### LOVD-version 3000-28d ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYO7A) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "MYO7A" "myosin VIIA" "11" "q13.5" "unknown" "NG_009086.1" "UD_132118456791" "" "https://www.LOVD.nl/MYO7A" "KMeyeDB \r\nUSMA (Usher Syndrome Missense Analysis \r\nDeafness Variation Database " "1" "7606" "4647" "276903" "1" "1" "1" "1" "The database is curated by the Montpellier Usher group.
You can directly access the MYO7A database using: www.LOVD.nl/MYO7A
If you wish to perform particular analyses, please do not hesitate to contact us. We hope that you will find these databases useful!
This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/MYO7A_codingDNA.html" "1" "" "
\r\nThis database is one of the ”Retinal and hearing impairment genetic variant databases”." "-1" "" "-1" "00000" "2010-02-17 00:00:00" "00110" "2018-07-20 14:45:02" "00006" "2023-01-25 13:41:15" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00001646" "MYO7A" "transcript variant 1" "001" "NM_000260.3" "" "NP_000251.3" "" "" "" "-272" "7193" "6648" "76839310" "76926286" "00000" "2012-09-13 13:44:14" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00350" "DFNA1" "deafness, autosomal dominant, type 1" "AD" "124900" "" "" "" "00081" "2014-03-13 13:45:31" "00006" "2021-12-10 21:51:32" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02115" "USH1" "Usher syndrome, type I (USH-1)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-11 13:56:28" "02116" "USH2A" "Usher syndrome,, type 2A (USH2A)" "AR" "276901" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02283" "DFNB2" "deafness, autosomal recessive, type 2 (DFNB-2)" "AR" "600060" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02352" "DFNA11" "deafness, autosomal dominant, type 11 (DFNA-11)" "AD" "601317" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04210" "LCA" "Leber congenital amaurosis (LCA)" "" "" "" "" "" "00006" "2015-02-27 18:57:11" "" "" "04211" "RPar" "retinitis pigmentosa, autosomal recessive (RPar)" "" "" "" "" "" "00006" "2015-02-27 18:58:57" "" "" "04214" "retinal disease" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00006" "2020-08-25 10:54:40" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "05414" "USH2" "Usher syndrome, type II (USH-2)" "" "" "" "" "" "00006" "2018-04-02 14:40:34" "00006" "2021-12-11 13:56:28" "05415" "USH" "Usher syndrome (USH)" "" "" "" "" "" "00006" "2018-04-02 16:40:44" "" "" "05458" "DFN" "deafness, nonsyndromic (DFN)" "" "" "" "" "" "00006" "2018-07-12 10:48:26" "" "" "05459" "USH3" "Usher syndrome, type III (USH-3)" "" "" "" "" "" "00006" "2018-07-12 10:56:37" "00006" "2021-12-11 13:56:28" "05460" "USH1B" "Usher syndrome, type Ib (USH-1B)" "AR" "276900" "" "autosomal recessive" "" "00006" "2018-07-17 16:02:34" "00006" "2021-12-10 21:51:32" "05981" "USH1" "Usher syndrome, type I" "" "276903" "" "" "" "00110" "2021-10-25 15:10:06" "00006" "2021-12-11 13:56:28" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{geneid}}" "{{diseaseid}}" "MYO7A" "00350" "MYO7A" "02115" "MYO7A" "02283" "MYO7A" "02352" "MYO7A" "05400" "MYO7A" "05415" "MYO7A" "05458" "MYO7A" "05460" ## Individuals ## Do not remove or alter this header ## ## Count = 1385 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00003005" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "" "" "" "" "" "00034514" "" "" "" "4" "" "01263" "{PMID:Wang 2011:21901789}, {DOI:Wang 2011:10.1002/humu.21587}" "5-generation consanguineous family, 4 affecteds (F, 3M), unaffected heterozygous carrier parents/sibs" "" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00059026" "" "" "" "3" "" "01542" "Karen Avraham laboratory, Tel Aviv university, Israel, unpublished" "" "" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00059158" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059166" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059167" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059168" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059169" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059170" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059171" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059172" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059173" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059174" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00060231" "" "" "" "1" "" "01542" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Israel" "" "0" "" "" "Uzbekistan;Jewish" "" "00060232" "" "" "" "1" "" "01542" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Israel" "" "0" "" "" "Turkey;Jewish" "" "00060237" "" "" "" "1" "" "01542" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "digenic inheritance DFNB2/DFNB23" "" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00060238" "" "" "" "1" "" "01542" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "" "" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00060289" "" "" "" "1" "" "00006" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "?" "Israel" "" "0" "" "" "Arab, Palestinian" "" "00060290" "" "" "" "3" "" "00006" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "2-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents" "F;M" "yes" "Israel" "" "0" "" "" "Arab, Palestinian" "" "00060291" "" "" "" "2" "" "00006" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents" "F;M" "yes" "Israel" "" "0" "" "" "Arab, Palestinian" "" "00060293" "" "" "" "2" "" "00006" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "310 controls" "-" "" "Israel" "" "0" "" "" "" "" "00080002" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "0" "" "" "" "" "00080006" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080011" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080029" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080044" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080054" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080138" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080830" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00080904" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00155497" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "yes" "Israel" "" "0" "" "" "Morocco;Jewish" "" "00155498" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Morocco;Jewish" "" "00155499" "" "" "" "3" "" "01243" "Sharon, submitted" "" "F" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "" "00155500" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "" "00155501" "" "" "" "2" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Arab-Muslim" "" "00155502" "" "" "" "3" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "" "00155503" "" "" "" "3" "" "01243" "Sharon, submitted" "" "F" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "" "00155504" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "yes" "Israel" "" "0" "" "" "Samaritans" "" "00155505" "" "" "" "2" "" "01243" "Sharon, submitted" "" "F" "yes" "Israel" "" "0" "" "" "African-N;Jewish" "" "00165703" "" "" "" "1" "" "02417" "{PMID:Aparisi 2014:25404053}" "Proband" "M" "" "Spain" "" "0" "" "" "" "" "00166516" "" "" "" "1" "" "02419" "{PMID:Saihan 2011:21487335}" "Proband" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166518" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166519" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166520" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166591" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166595" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166596" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166597" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166598" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166599" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166600" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166601" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166602" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166606" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166607" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166608" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166609" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166611" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166612" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166614" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166616" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166617" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166619" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166620" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166621" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166624" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166625" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166626" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166627" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166628" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166629" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166631" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166632" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166633" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166634" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166636" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166638" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166640" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166641" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166647" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166648" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166650" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166652" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166653" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166654" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166657" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166658" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166659" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166662" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166663" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166666" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166667" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166668" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166669" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166670" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166672" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166674" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166675" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166676" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166677" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166680" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166684" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166688" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166689" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166691" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166693" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166694" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166695" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166696" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166697" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166698" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166699" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166702" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166705" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166706" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166708" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166709" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166712" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166714" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166716" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166717" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166718" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166719" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166720" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166722" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166723" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166725" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166729" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166732" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166733" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166734" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166735" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166737" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166742" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166744" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166745" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166747" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166748" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166750" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166751" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166752" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166753" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166757" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166758" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167055" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "M" "" "" "" "0" "" "" "" "" "00167123" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "M" "" "" "" "0" "" "" "" "" "00167130" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167137" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "M" "" "France" "" "0" "" "" "" "" "00167149" "" "" "" "1" "" "02416" "{PMID:Glöcke 2013:23591405}" "Proband" "" "" "" "" "0" "" "" "" "" "00167296" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167297" "" "" "" "1" "" "02416" "{PMID:Yoshimura 2014:24618850}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167306" "" "" "" "1" "" "02416" "{PMID:Yoshimura 2014:24618850}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167441" "" "" "" "1" "" "02416" "{PMID:Rong 2014:24831256}" "Proband - variants found in samples of two affected brothers. They carry the same causative mutations in MYO7A, but other variants cannot be discriminated from the publication." "M" "" "China" "" "0" "" "" "" "" "00167442" "" "" "" "1" "" "02416" "{PMID:Rong 2014:24831256}" "Proband" "F" "" "China" "" "0" "" "" "" "" "00167443" "" "" "" "1" "" "02416" "{PMID:Rong 2014:24831256}" "Proband" "M" "" "China" "" "0" "" "" "" "" "00167662" "" "" "" "1" "" "02416" "{PMID:Licastro 2012:22952768}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00167663" "" "" "" "1" "" "02416" "{PMID:Licastro 2012:22952768}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00167671" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "M" "" "India" "" "0" "" "" "" "" "00167681" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167683" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167684" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167691" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167774" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00168035" "" "" "" "1" "" "02430" "{PMID:Ivanova 2018:30358468}" "Proband" "F" "" "Russian Federation" "" "0" "" "" "Slavonian" "Pat26" "00168118" "" "" "" "1" "" "02418" "{PMID:Weston 1996:8900236}" "Proband" "" "" "Algeria" "" "0" "" "" "" "?" "00168119" "" "" "" "1" "" "02418" "{PMID:Weston 1996:8900236}" "Proband" "" "" "Belgium" "" "0" "" "" "" "?" "00168120" "" "" "" "1" "" "02418" "{PMID:Weston 1996:8900236}" "Proband" "" "" "Belgium" "" "0" "" "" "" "?" "00168121" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Proband" "M" "" "Bulgaria" "" "0" "" "" "" "?" "00168122" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "M" "" "Bulgaria" "" "0" "" "" "" "?" "00168123" "" "" "" "1" "" "02416" "{PMID:Mao-Chang Su 2009:19299023}" "Proband" "M" "" "China" "" "0" "" "" "" "?" "00168124" "" "" "" "1" "" "02416" "{PMID:Mao-Chang Su 2009:19299023}" "Relative" "M" "" "China" "" "0" "" "" "" "?" "00168125" "" "" "" "1" "" "02416" "{PMID:Mao-Chang Su 2009:19299023}" "Proband" "M" "" "China" "" "0" "" "" "" "?" "00168126" "" "" "" "1" "" "02416" "{PMID:Mao-Chang Su 2009:19299023}" "Proband" "M" "" "China" "" "0" "" "" "" "?" "00168127" "" "" "" "1" "" "02416" "{PMID:Mao-Chang Su 2009:19299023}" "Proband" "M" "" "China" "" "0" "" "" "" "?" "00168128" "" "" "" "1" "" "02416" "{PMID:Mao-Chang Su 2009:19299023}" "Proband" "M" "" "China" "" "0" "" "" "" "?" "00168129" "" "" "" "1" "" "02416" "{PMID:Bolz 2004:15300860}" "Proband" "F" "" "Germany" "" "0" "" "" "" "?" "00168130" "" "" "" "1" "" "02416" "{PMID:Bolz 2004:15300860}" "Relative" "F" "" "Germany" "" "0" "" "" "" "?" "00168131" "" "" "" "1" "" "02416" "{PMID:Bolz 2004:15300860}" "Relative" "F" "" "Germany" "" "0" "" "" "" "?" "00168132" "" "" "" "1" "" "02416" "{PMID:Bolz 2004:15300860}" "Relative" "M" "" "Germany" "" "0" "" "" "" "?" "00168133" "" "" "" "1" "" "02416" "{PMID:Bolz 2004:15300860}" "Relative" "F" "" "Germany" "" "0" "" "" "" "?" "00168134" "" "" "" "1" "" "02416" "{PMID:Ebermann 2007:17407589}" "Proband" "" "" "Canada" "" "0" "" "" "" "?" "00168135" "" "" "" "1" "" "02416" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503} " "Proband" "" "" "Denmark" "" "0" "" "" "" "?" "00168136" "" "" "" "1" "" "02416" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503} " "Proband" "" "" "Denmark" "" "0" "" "" "" "?" "00168137" "" "" "" "1" "" "02416" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503} " "Proband" "" "" "Denmark" "" "0" "" "" "" "?" "00168138" "" "" "" "1" "" "02416" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503} " "Proband" "" "" "Denmark" "" "0" "" "" "" "?" "00168139" "" "" "" "1" "" "02416" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503} " "Proband" "" "" "Denmark" "" "0" "" "" "" "?" "00168140" "" "" "" "1" "" "02416" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503}" "proband" "M" "" "Denmark" "" "0" "" "" "" "?;USH1-7" "00168141" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Proband" "" "" "Algeria" "" "0" "" "" "" "?" "00168142" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Proband" "" "" "Algeria" "" "0" "" "" "" "?" "00168143" "" "" "" "1" "" "02416" "{PMID:Vastinsalo 2006:17093394}" "Proband" "F" "" "Finland" "" "0" "" "" "" "?" "00168144" "" "" "" "1" "" "02416" "{PMID:Vastinsalo 2006:17093394}" "Proband" "F" "" "Finland" "" "0" "" "" "" "?" "00168145" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168146" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168147" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168148" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168149" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168150" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168151" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168152" "" "" "" "1" "" "02416" "{PMID:Blanchet 2007:18323324}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168153" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "M" "" "Morocco" "" "0" "" "" "" "?" "00168154" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "M" "" "Algeria" "" "0" "" "" "" "?" "00168155" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168156" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168157" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168158" "" "" "" "1" "" "02416" "{PMID:Blanchet 2007:18323324}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168159" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168160" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "M" "" "Algeria" "" "0" "" "" "" "?" "00168161" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168162" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168163" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "M" "" "Turkey" "" "0" "" "" "" "?" "00168164" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "M" "" "Senegal" "" "0" "" "" "" "?" "00168165" "" "" "" "1" "" "02416" "" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168166" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168167" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168168" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "" "" "0" "" "" "north Africa" "?" "00168169" "" "" "" "1" "" "02416" "" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168170" "" "" "" "1" "" "02416" "{PMID:Le Guédard-Méreuze 2010:20052763}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168171" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168172" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168173" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "Morocco" "" "0" "" "" "" "?" "00168174" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168175" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168176" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168177" "" "" "" "1" "" "02416" "" "Proband" "M" "" "" "" "0" "" "" "" "?" "00168178" "" "" "" "1" "" "02416" "" "Proband" "M" "" "" "" "0" "" "" "" "?" "00168179" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "?" "00168180" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "" "" "0" "" "" "" "?" "00168181" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "" "" "0" "" "" "" "?" "00168182" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168183" "" "" "" "1" "" "02416" "{PMID:Levy 1997:9002678}" "Proband" "" "" "" "" "0" "" "" "" "?" "00168184" "" "" "" "1" "" "02416" "{PMID:Levy 1997:9002678}" "Proband" "" "" "" "" "0" "" "" "" "?" "00168185" "" "" "" "1" "" "02416" "{PMID:Levy 1997:9002678}" "Proband" "" "" "" "" "0" "" "" "" "?" "00168186" "" "" "" "1" "" "02416" "{PMID:Levy 1997:9002678}" "Proband" "" "" "" "" "0" "" "" "" "?" "00168187" "" "" "" "1" "" "02416" "{PMID:Levy 1997:9002678}" "Proband" "" "" "" "" "0" "" "" "" "?" "00168188" "" "" "" "1" "" "02416" "{PMID:Levy 1997:9002678}" "Relative" "" "" "" "" "0" "" "" "" "?" "00168189" "" "" "" "1" "" "02416" "{PMID:Levy 1997:9002678}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168190" "" "" "" "1" "" "02416" "{PMID:Maubaret 2005:15823922}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168191" "" "" "" "1" "" "02416" "{PMID:Maubaret 2005:15823922}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168192" "" "" "" "1" "" "02416" "{PMID:Gerber 2006:16400615}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168193" "" "" "" "1" "" "02416" "{PMID:Gerber 2006:16400615}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168194" "" "" "" "1" "" "02416" "{PMID:Gerber 2006:16400615}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168195" "" "" "" "1" "" "02416" "{PMID:Gerber 2006:16400615}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168196" "" "" "" "1" "" "02416" "{PMID:Gerber 2006:16400615}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168197" "" "" "" "1" "" "02416" "{PMID:Gerber 2006:16400615}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168198" "" "" "" "1" "" "02416" "{PMID:Gerber 2006:16400615}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168199" "" "" "" "1" "" "02416" "{PMID:Gerber 2006:16400615}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168200" "" "" "" "1" "" "02416" "{PMID:Gerber 2006:16400615}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168201" "" "" "" "1" "" "02416" "{PMID:Gerber 2006:16400615}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168202" "" "" "" "1" "" "02416" "{PMID:Kumar 2004:15592175}" "Proband" "M" "" "India" "" "0" "" "" "" "?" "00168203" "" "" "" "1" "" "02416" "{PMID:Kumar 2004:15592175}" "Relative" "F" "" "India" "" "0" "" "" "" "?" "00168204" "" "" "" "1" "" "02416" "{PMID:Kumar 2004:15592175}" "Relative" "F" "" "India" "" "0" "" "" "" "?" "00168205" "" "" "" "1" "" "02416" "{PMID:Kumar 2004:15592175}" "Relative" "M" "" "India" "" "0" "" "" "" "?" "00168206" "" "" "" "1" "" "02416" "{PMID:Kumar 2004:15592175}" "Relative" "F" "" "India" "" "0" "" "" "" "?" "00168207" "" "" "" "1" "" "02416" "Kahrizi et al., P49, 6th Molecular Biology of Hearing and Deafness Conference, 2007." "Proband" "" "" "Iran" "" "0" "" "" "" "?" "00168208" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Proband" "" "" "Iran" "" "0" "" "" "" "?" "00168209" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Iran" "" "0" "" "" "" "?" "00168210" "" "" "" "1" "" "02416" "{PMID:Di Leva 2006:16449806}" "Proband" "F" "" "Italy" "" "0" "" "" "" "?" "00168211" "" "" "" "1" "" "02416" "{PMID:Di Leva 2006:16449806}" "Relative" "M" "" "Italy" "" "0" "" "" "" "?" "00168212" "" "" "" "1" "" "02416" "{PMID:Di Leva 2006:16449806}" "Relative" "M" "" "Italy" "" "0" "" "" "" "?" "00168213" "" "" "" "1" "" "02416" "{PMID:Di Leva 2006:16449806}" "Relative" "M" "" "Italy" "" "0" "" "" "" "?" "00168214" "" "" "" "1" "" "02416" "{PMID:Di Leva 2006:16449806}" "Relative" "M" "" "Italy" "" "0" "" "" "" "?" "00168215" "" "" "" "1" "" "02416" "{PMID:Di Leva 2006:16449806}" "Relative" "" "" "Italy" "" "0" "" "" "" "?" "00168216" "" "" "" "1" "" "02416" "{PMID:Di Leva 2006:16449806}" "Relative" "M" "" "Italy" "" "0" "" "" "" "?" "00168217" "" "" "" "1" "" "02416" "{PMID:Di Leva 2006:16449806}" "Relative" "M" "" "Italy" "" "0" "" "" "" "?" "00168218" "" "" "" "1" "" "02416" "{PMID:Di Leva 2006:16449806}" "Relative" "F" "" "Italy" "" "0" "" "" "" "?" "00168219" "" "" "" "1" "" "02416" "{PMID:Di Leva 2006:16449806}" "Relative" "M" "" "Italy" "" "0" "" "" "" "?" "00168220" "" "" "" "1" "" "02416" "{PMID:Di Leva 2006:16449806}" "Relative" "F" "" "Italy" "" "0" "" "" "" "?" "00168221" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Proband" "" "" "Jordan" "" "0" "" "" "" "?" "00168222" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Jordan" "" "0" "" "" "" "?" "00168223" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Jordan" "" "0" "" "" "" "?" "00168224" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Jordan" "" "0" "" "" "" "?" "00168225" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Jordan" "" "0" "" "" "" "?" "00168226" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Jordan" "" "0" "" "" "" "?" "00168227" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Jordan" "" "0" "" "" "" "?" "00168228" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Jordan" "" "0" "" "" "" "?" "00168229" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Jordan" "" "0" "" "" "" "?" "00168230" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Jordan" "" "0" "" "" "" "?" "00168231" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Jordan" "" "0" "" "" "" "?" "00168232" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Jordan" "" "0" "" "" "" "?" "00168233" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Jordan" "" "0" "" "" "" "?" "00168234" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Jordan" "" "0" "" "" "" "?" "00168235" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Jordan" "" "0" "" "" "" "?" "00168236" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Jordan" "" "0" "" "" "" "?" "00168237" "" "" "" "1" "" "02416" "{PMID:Liu 1997(3):9354784}" "Proband" "" "" "Japan" "" "0" "" "" "" "?" "00168238" "" "" "" "1" "" "02416" "{PMID:Liu 1997(3):9354784}" "Relative" "" "" "Japan" "" "0" "" "" "" "?" "00168239" "" "" "" "1" "" "02416" "{PMID:Liu 1997(3):9354784}" "Relative" "" "" "Japan" "" "0" "" "" "" "?" "00168240" "" "" "" "1" "" "02416" "{PMID:Liu 1997(3):9354784}" "Relative" "" "" "Japan" "" "0" "" "" "" "?" "00168241" "" "" "" "1" "" "02416" "{PMID:Liu 1997(3):9354784}" "Relative" "" "" "Japan" "" "0" "" "" "" "?" "00168242" "" "" "" "1" "" "02416" "{PMID:Liu 1997(3):9354784}" "Relative" "" "" "Japan" "" "0" "" "" "" "?" "00168243" "" "" "" "1" "" "02416" "{PMID:Liu 1997(3):9354784}" "Relative" "" "" "Japan" "" "0" "" "" "" "?" "00168244" "" "" "" "1" "" "02416" "{PMID:Liu 1997(3):9354784}" "Relative" "" "" "Japan" "" "0" "" "" "" "?" "00168245" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Proband" "" "" "Morocco" "" "0" "" "" "" "?" "00168246" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Morocco" "" "0" "" "" "" "?" "00168247" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Morocco" "" "0" "" "" "" "?" "00168248" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Morocco" "" "0" "" "" "" "?" "00168249" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Proband" "" "" "Morocco" "" "0" "" "" "" "?" "00168250" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Morocco" "" "0" "" "" "" "?" "00168251" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Proband" "" "" "Morocco" "" "0" "" "" "" "?" "00168252" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Morocco" "" "0" "" "" "" "?" "00168253" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Proband" "" "" "Morocco" "" "0" "" "" "" "?" "00168254" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Morocco" "" "0" "" "" "" "?" "00168255" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Proband" "" "" "Morocco" "" "0" "" "" "" "?" "00168256" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Proband" "" "" "Morocco" "" "0" "" "" "" "?" "00168257" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Proband" "" "" "Morocco" "" "0" "" "" "" "?" "00168258" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Morocco" "" "0" "" "" "" "?" "00168259" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Proband" "" "" "Morocco" "" "0" "" "" "" "?" "00168260" "" "" "" "1" "" "02416" "{PMID:Boulouiz 2007:17960123}" "Proband" "F" "" "Morocco" "" "0" "" "" "" "?" "00168261" "" "" "" "1" "" "02416" "{PMID:Boulouiz 2007:17960123}" "Relative" "F" "" "Morocco" "" "0" "" "" "" "?" "00168262" "" "" "" "1" "" "02418" "{PMID:Weston 1996:8900236}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "?" "00168263" "" "" "" "1" "" "02418" "{PMID:Weston 1996:8900236}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "?" "00168264" "" "" "" "1" "" "02418" "{PMID:Weston 1996:8900236}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "?" "00168265" "" "" "" "1" "" "02418" "{PMID:Weston 1996:8900236}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "?" "00168266" "" "" "" "1" "" "02418" "{PMID:Weston 1996:8900236}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "?" "00168267" "" "" "" "1" "" "02416" "{PMID:Pennings 2006:16652077}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "?" "00168268" "" "" "" "1" "" "02416" "{PMID:Pennings 2006:16652077}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "?" "00168269" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15043528}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "?" "00168270" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15043528}" "Relative" "" "" "Netherlands" "" "0" "" "" "" "?" "00168271" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15043528}" "Relative" "" "" "Netherlands" "" "0" "" "" "" "?" "00168272" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15043528}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "?" "00168273" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15043528}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "?" "00168274" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15043528}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "?" "00168275" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15043528}" "Relative" "" "" "Netherlands" "" "0" "" "" "" "?" "00168276" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15043528}" "Proband" "" "" "Belgium" "" "0" "" "" "" "?" "00168277" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15043528}" "Proband" "" "" "Belgium" "" "0" "" "" "" "?" "00168278" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15043528}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "?" "00168279" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15043528}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "?" "00168280" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15043528}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "?" "00168281" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15043528}" "Relative" "" "" "Netherlands" "" "0" "" "" "" "?" "00168282" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15043528}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "?" "00168283" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15043528}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "?" "00168284" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15043528}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "?" "00168285" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15043528}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "?" "00168286" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15043528}" "Relative" "" "" "Netherlands" "" "0" "" "" "" "?" "00168287" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15043528}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "?" "00168288" "" "" "" "1" "" "02416" "{PMID:Luijendijk 2004:15221449}" "Proband" "F" "" "Netherlands" "" "0" "" "" "" "?" "00168289" "" "" "" "1" "" "02416" "{PMID:Luijendijk 2004:15221449}" "Relative" "M" "" "Netherlands" "" "0" "" "" "" "?" "00168290" "" "" "" "1" "" "02416" "{PMID:Luijendijk 2004:15221449}" "Relative" "M" "" "Netherlands" "" "0" "" "" "" "?" "00168291" "" "" "" "1" "" "02416" "{PMID:Luijendijk 2004:15221449}" "Relative" "M" "" "Netherlands" "" "0" "" "" "" "?" "00168292" "" "" "" "1" "" "02416" "{PMID:Luijendijk 2004:15221449}" "Relative" "M" "" "Netherlands" "" "0" "" "" "" "?" "00168293" "" "" "" "1" "" "02416" "{PMID:Luijendijk 2004:15221449}" "Relative" "F" "" "Netherlands" "" "0" "" "" "" "?" "00168294" "" "" "" "1" "" "02416" "{PMID:Luijendijk 2004:15221449}" "Relative" "F" "" "Netherlands" "" "0" "" "" "" "?" "00168295" "" "" "" "1" "" "02416" "{PMID:Luijendijk 2004:15221449}" "Relative" "M" "" "Netherlands" "" "0" "" "" "" "?" "00168296" "" "" "" "1" "" "02416" "{PMID:Luijendijk 2004:15221449}" "Relative" "F" "" "Netherlands" "" "0" "" "" "" "?" "00168297" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Proband" "" "" "Poland" "" "0" "" "" "" "?" "00168298" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Poland" "" "0" "" "" "" "?" "00168299" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Poland" "" "0" "" "" "" "?" "00168300" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Poland" "" "0" "" "" "" "?" "00168301" "" "" "" "1" "" "02416" "Mena et al., poster:2263 from the 2000 ASHG Annual Meeting" "Proband" "" "" "Portugal" "" "0" "" "" "" "?" "00168302" "" "" "" "1" "" "02418" "{PMID:Weston 1996:8900236}" "Proband" "" "" "Sweden" "" "0" "" "" "" "?" "00168303" "" "" "" "1" "" "02418" "{PMID:Weston 1996:8900236}" "Proband" "" "" "Sweden" "" "0" "" "" "" "?" "00168304" "" "" "" "1" "" "02417" "{PMID:Cuevas 1999:10425080}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168305" "" "" "" "1" "" "02417" "{PMID:Cuevas 1999:10425080}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168306" "" "" "" "1" "" "02417" "{PMID:Cuevas 1999:10425080}" "Relative" "M" "" "Spain" "" "0" "" "" "" "?" "00168307" "" "" "" "1" "" "02417" "{PMID:Najera 2002:12112664}" "Proband" "" "" "Spain" "" "0" "" "" "" "?" "00168308" "" "" "" "1" "" "02417" "{PMID:Najera 2002:12112664}" "Proband" "" "" "Spain" "" "0" "" "" "" "?" "00168309" "" "" "" "1" "" "02417" "{PMID:Jaijo 2006:16470552}" "Proband" "" "" "Spain" "" "0" "" "" "" "?" "00168310" "" "" "" "1" "" "02417" "{PMID:Najera 2002:12112664}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168311" "" "" "" "1" "" "02417" "{PMID:Jaijo 2006:16470552}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168312" "" "" "" "1" "" "02417" "{PMID:Cuevas 1999:10425080}" "Relative" "F" "" "Spain" "" "0" "" "" "" "?" "00168313" "" "" "" "1" "" "02417" "{PMID:Cuevas 1999:10425080}" "Proband - Minigene and Nasal cell studies in Aparisi et al., 2013" "M" "" "Spain" "" "0" "" "" "" "?" "00168314" "" "" "" "1" "" "02417" "{PMID:Cuevas 1999:10425080}" "Relative" "F" "" "Spain" "" "0" "" "" "" "?" "00168315" "" "" "" "1" "" "02417" "{PMID:Jaijo 2006:16470552}" "Proband" "F" "" "Spain" "" "0" "" "" "" "?" "00168316" "" "" "" "1" "" "02417" "{PMID:Jaijo 2006:16470552}" "Proband - Minigene and Nasal cell studies in Aparisi et al., 2013" "M" "" "Spain" "" "0" "" "" "" "?" "00168317" "" "" "" "1" "" "02417" "{PMID:Jaijo 2007:17361009}" "Proband" "F" "" "Spain" "" "0" "" "" "" "?" "00168318" "" "" "" "1" "" "02417" "{PMID:Jaijo 2007:17361009}" "Proband" "F" "" "Italy" "" "0" "" "" "" "?" "00168319" "" "" "" "1" "" "02417" "{PMID:Jaijo 2007:17361009}" "Proband - Minigene studies in Aparisi et al., 2013" "M" "" "Italy" "" "0" "" "" "" "?" "00168320" "" "" "" "1" "" "02417" "{PMID:Jaijo 2007:17361009}" "Proband" "F" "" "Italy" "" "0" "" "" "" "?" "00168321" "" "" "" "1" "" "02417" "{PMID:Jaijo 2007:17361009}" "Proband" "F" "" "Italy" "" "0" "" "" "" "?" "00168322" "" "" "" "1" "" "02417" "{PMID:Jaijo 2007:17361009}" "Proband - Minigene studies in Aparisi et al., 2013" "" "" "Italy" "" "0" "" "" "" "?" "00168323" "" "" "" "1" "" "02417" "{PMID:Jaijo 2007:17361009}" "Proband" "F" "" "Spain" "" "0" "" "" "" "?" "00168324" "" "" "" "1" "" "02417" "{PMID:Jaijo 2007:17361009}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168325" "" "" "" "1" "" "02417" "{PMID:Jaijo 2007:17361009}" "Proband" "M" "" "Morocco" "" "0" "" "" "" "?" "00168326" "" "" "" "1" "" "02417" "{PMID:Jaijo 2007:17361009}" "Proband" "M" "" "Morocco" "" "0" "" "" "" "?" "00168327" "" "" "" "1" "" "02417" "{PMID:Jaijo 2007:17361009}" "Proband" "F" "" "Italy" "" "0" "" "" "" "?" "00168328" "" "" "" "1" "" "02417" "{PMID:Jaijo 2007:17361009}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168329" "" "" "" "1" "" "02417" "{PMID:Jaijo 2007:17361009}" "Proband" "M" "" "Italy" "" "0" "" "" "" "?" "00168330" "" "" "" "1" "" "02417" "{PMID:Jaijo 2010:19683999}" "Proband - Minigene and Nasal cell studies in Aparisi et al., 2013" "" "" "Spain" "" "0" "" "" "" "?" "00168331" "" "" "" "1" "" "02417" "{PMID:Jaijo 2010:19683999}" "Proband" "" "" "Spain" "" "0" "" "" "" "?" "00168332" "" "" "" "1" "" "02417" "{PMID:Jaijo 2010:19683999}" "Proband" "" "" "Spain" "" "0" "" "" "" "?" "00168333" "" "" "" "1" "" "02417" "{PMID:Jaijo 2010:19683999}" "Proband" "" "" "Spain" "" "0" "" "" "" "?" "00168334" "" "" "" "1" "" "02417" "{PMID:Jaijo 2010:19683999}" "Proband" "" "" "Spain" "" "0" "" "" "" "?" "00168335" "" "" "" "1" "" "02417" "{PMID:Najera 2002:12112664}" "Proband" "F" "" "Spain" "" "0" "" "" "" "?" "00168336" "" "" "" "1" "" "02417" "{PMID:Jaijo 2010:19683999}" "Proband" "" "" "Spain" "" "0" "" "" "" "?" "00168337" "" "" "" "1" "" "02417" "{PMID:Najera 2002:12112664}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168338" "" "" "" "1" "" "02417" "{PMID:Espinos 1998:9703432}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168339" "" "" "" "1" "" "02417" "{PMID:Jaijo 2006:16470552}" "Relative" "F" "" "Spain" "" "0" "" "" "" "?" "00168340" "" "" "" "1" "" "02417" "{PMID:Cuevas 1998:9843659}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168341" "" "" "" "1" "" "02417" "{PMID:Cuevas 1998:9843659}" "Relative" "M" "" "Spain" "" "0" "" "" "" "?" "00168342" "" "" "" "1" "" "02417" "{PMID:Cuevas 1998:9843659}" "Relative" "M" "" "Spain" "" "0" "" "" "" "?" "00168343" "" "" "" "1" "" "02417" "{PMID:Najera 2002:12112664}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168344" "" "" "" "1" "" "02417" "{PMID:Jaijo 2006:16470552}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168345" "" "" "" "1" "" "02417" "{PMID:Najera 2002:12112664}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168346" "" "" "" "1" "" "02417" "{PMID:Jaijo 2006:16470552}" "Proband" "F" "" "Spain" "" "0" "" "" "" "?" "00168347" "" "" "" "1" "" "02417" "{PMID:Najera 2002:12112664}" "Proband" "F" "" "Spain" "" "0" "" "" "" "?" "00168348" "" "" "" "1" "" "02417" "{PMID:Najera 2002:12112664}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168349" "" "" "" "1" "" "02417" "{PMID:Jaijo 2006:16470552}" "Proband - Minigene studies in Aparisi et al., 2013" "M" "" "Spain" "" "0" "" "" "" "?" "00168350" "" "" "" "1" "" "02417" "{PMID:Jaijo 2006:16470552}" "Proband - Minigene studies in Aparisi et al., 2013" "M" "" "Spain" "" "0" "" "" "" "?" "00168351" "" "" "" "1" "" "02417" "{PMID:Jaijo 2006:16470552}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168352" "" "" "" "1" "" "02416" "{PMID:Weil 1997:9171833}" "Proband" "" "" "Tunisia" "" "0" "" "" "" "?" "00168353" "" "" "" "1" "" "02416" "{PMID:Weil 1997:9171833}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168354" "" "" "" "1" "" "02416" "{PMID:Weil 1997:9171833}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168355" "" "" "" "1" "" "02416" "{PMID:Weil 1997:9171833}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168356" "" "" "" "1" "" "02416" "{PMID:Weil 1997:9171833}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168357" "" "" "" "1" "" "02416" "{PMID:Weil 1997:9171833}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168358" "" "" "" "1" "" "02416" "{PMID:Weil 1997:9171833}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168359" "" "" "" "1" "" "02416" "{PMID:Weil 1997:9171833}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168360" "" "" "" "1" "" "02416" "{PMID:Weil 1997:9171833}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168361" "" "" "" "1" "" "02416" "{PMID:Weil 1997:9171833}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168362" "" "" "" "1" "" "02416" "{PMID:Weil 1997:9171833}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168363" "" "" "" "1" "" "02416" "{PMID:Weil 1997:9171833}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168364" "" "" "" "1" "" "02416" "{PMID:Weil 1997:9171833}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168365" "" "" "" "1" "" "02416" "{PMID:Weil 1997:9171833}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168366" "" "" "" "1" "" "02416" "{PMID:Weil 1997:9171833}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168367" "" "" "" "1" "" "02416" "{PMID:Weil 1997:9171833}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168368" "" "" "" "1" "" "02416" "{PMID:Weil 1997:9171833}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168369" "" "" "" "1" "" "02416" "{PMID:Weil 1997:9171833}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168370" "" "" "" "1" "" "02416" "{PMID:Weil 1997:9171833}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168371" "" "" "" "1" "" "02416" "{PMID:Weil 1997:9171833}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168372" "" "" "" "1" "" "02416" "{PMID:Weil 1997:9171833}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168373" "" "" "" "1" "" "02416" "{PMID:Weil 1997:9171833}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168374" "" "" "" "1" "" "02416" "{PMID:Zina 2001:11391666}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168375" "" "" "" "1" "" "02416" "{PMID:Zina 2001:11391666}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168376" "" "" "" "1" "" "02416" "{PMID:Zina 2001:11391666}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168377" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Proband" "" "" "Tunisia" "" "0" "" "" "" "?" "00168378" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168379" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Proband" "" "" "Tunisia" "" "0" "" "" "" "?" "00168380" "" "" "" "1" "" "02416" "{PMID:Adato 1997:9382091}" "Relative" "" "" "Tunisia" "" "0" "" "" "" "?" "00168381" "" "" "" "1" "" "02416" "{PMID:Liu 1998:9718356}" "Proband" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168382" "" "" "" "1" "" "02416" "{PMID:Liu 1998:9718356}" "Relative" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168383" "" "" "" "1" "" "02416" "{PMID:Liu 1997(2):9259201}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168384" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168385" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168386" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168387" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168388" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168389" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168390" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168391" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168392" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168393" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168394" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168395" "" "" "" "1" "" "02416" "{PMID:Liu 1997:9171832}" "Proband" "M" "" "China" "" "0" "" "" "" "?" "00168396" "" "" "" "1" "" "02416" "{PMID:Liu 1997:9171832}" "Relative" "F" "" "China" "" "0" "" "" "" "?" "00168397" "" "" "" "1" "" "02416" "{PMID:Liu 1997:9171832}" "Relative" "M" "" "China" "" "0" "" "" "" "?" "00168398" "" "" "" "1" "" "02416" "{PMID:Liu 1997:9171832}" "Proband" "M" "" "China" "" "0" "" "" "" "?" "00168399" "" "" "" "1" "" "02416" "{PMID:Liu 1997:9171832}" "Relative" "F" "" "China" "" "0" "" "" "" "?" "00168400" "" "" "" "1" "" "02418" "{PMID:Weston 1996:8900236}" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168401" "" "" "" "1" "" "02418" "{PMID:Weston 1996:8900236}" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168402" "" "" "" "1" "" "02418" "Weston 1998, Assoc Res Otolaryngol Abs, p. 46, 1998" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168403" "" "" "" "1" "" "02418" "{PMID:Weston 1996:8900236}" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168404" "" "" "" "1" "" "02418" "Weston 1998, Assoc Res Otolaryngol Abs, p. 46, 1998" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168405" "" "" "" "1" "" "02418" "Weston 1998, Assoc Res Otolaryngol Abs, p. 46, 1998" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168406" "" "" "" "1" "" "02418" "{PMID:Jacobson 2009:19074810}" "Proband" "M" "" "" "" "0" "" "" "" "?" "00168407" "" "" "" "1" "" "02418" "{PMID:Jacobson 2009:19074810}" "Proband" "M" "" "" "" "0" "" "" "" "?" "00168408" "" "" "" "1" "" "02418" "{PMID:Weston 1996:8900236}" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168409" "" "" "" "1" "" "02418" "{PMID:Weston 1996:8900236}" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168410" "" "" "" "1" "" "02418" "{PMID:Weston 1996:8900236}" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168411" "" "" "" "1" "" "02418" "Weston 1998, Assoc Res Otolaryngol Abs, p. 46, 1998" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168412" "" "" "" "1" "" "02418" "Weston 1998, Assoc Res Otolaryngol Abs, p. 46, 1998" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168413" "" "" "" "1" "" "02418" "{PMID:Weston 1996:8900236}" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168414" "" "" "" "1" "" "02418" "{PMID:Weston 1996:8900236}" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168415" "" "" "" "1" "" "02418" "{PMID:Hildebrand 2010:20132242}" "Relative" "M" "" "Iran" "" "0" "" "" "" "?" "00168416" "" "" "" "1" "" "02418" "{PMID:Hildebrand 2010:20132242}" "Relative" "M" "" "Iran" "" "0" "" "" "" "?" "00168417" "" "" "" "1" "" "02418" "{PMID:Hildebrand 2010:20132242}" "Proband" "F" "" "Iran" "" "0" "" "" "" "?" "00168418" "" "" "" "1" "" "02418" "Weston 1998" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168419" "" "" "" "1" "" "02418" "{PMID:Weston 1996:8900236}" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168420" "" "" "" "1" "" "02418" "Weston 1998, Assoc Res Otolaryngol Abs, p. 46, 1998" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168421" "" "" "" "1" "" "02418" "{PMID:Jacobson 2009:19074810}" "Proband" "F" "" "" "" "0" "" "" "" "?" "00168422" "" "" "" "1" "" "02418" "{PMID:Jacobson 2009:19074810}" "Relative" "F" "" "" "" "0" "" "" "" "?" "00168423" "" "" "" "1" "" "02418" "{PMID:Jacobson 2009:19074810}" "Proband" "F" "" "" "" "0" "" "" "" "?" "00168424" "" "" "" "1" "" "02418" "{PMID:Jacobson 2009:19074810}" "Proband" "M" "" "" "" "0" "" "" "" "?" "00168425" "" "" "" "1" "" "02418" "{PMID:Jacobson 2009:19074810}" "Proband" "F" "" "" "" "0" "" "" "" "?" "00168426" "" "" "" "1" "" "02418" "{PMID:Weston 1996:8900236}" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168427" "" "" "" "1" "" "02416" "{PMID:Bharadwaj 2000:10930322}" "Proband" "" "" "Italy" "" "0" "" "" "" "?" "00168428" "" "" "" "1" "" "02416" "{PMID:Bharadwaj 2000:10930322}" "Proband" "" "" "Ireland" "" "0" "" "" "" "?" "00168429" "" "" "" "1" "" "02416" "{PMID:Bharadwaj 2000:10930322}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168430" "" "" "" "1" "" "02416" "{PMID:Bharadwaj 2000:10930322}" "Proband" "" "" "" "" "0" "" "" "" "?" "00168431" "" "" "" "1" "" "02416" "{PMID:Bharadwaj 2000:10930322}" "Proband" "" "" "Ireland" "" "0" "" "" "" "?" "00168432" "" "" "" "1" "" "02416" "{PMID:Bharadwaj 2000:10930322}" "Proband" "" "" "Ireland" "" "0" "" "" "" "?" "00168433" "" "" "" "1" "" "02416" "{PMID:Bharadwaj 2000:10930322}" "Proband" "" "" "Ireland" "" "0" "" "" "" "?" "00168434" "" "" "" "1" "" "02416" "{PMID:Bharadwaj 2000:10930322}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168435" "" "" "" "1" "" "02416" "{PMID:Bharadwaj 2000:10930322}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168436" "" "" "" "1" "" "02416" "{PMID:Bharadwaj 2000:10930322}" "Proband" "" "" "Canada" "" "0" "" "" "" "?" "00168437" "" "" "" "1" "" "02416" "{PMID:Bharadwaj 2000:10930322}" "Proband" "" "" "Germany" "" "0" "" "" "" "?" "00168438" "" "" "" "1" "" "02416" "{PMID:Bharadwaj 2000:10930322}" "Proband" "" "" "Italy" "" "0" "" "" "" "?" "00168439" "" "" "" "1" "" "02416" "{PMID:Bharadwaj 2000:10930322}" "Proband" "" "" "Ireland" "" "0" "" "" "" "?" "00168440" "" "" "" "1" "" "02416" "{PMID:Bharadwaj 2000:10930322}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168441" "" "" "" "1" "" "02416" "{PMID:Bharadwaj 2000:10930322}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168442" "" "" "" "1" "" "02416" "{PMID:Bharadwaj 2000:10930322}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168443" "" "" "" "1" "" "02416" "{PMID:Bharadwaj 2000:10930322}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168444" "" "" "" "1" "" "02416" "{PMID:Street 2004:15121790}" "Proband" "M" "" "United States" "" "0" "" "" "" "?" "00168445" "" "" "" "1" "" "02416" "{PMID:Street 2004:15121790}" "Relative" "F" "" "United States" "" "0" "" "" "" "?" "00168446" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168447" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168448" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168449" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168450" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168451" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168452" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168453" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "?" "00168454" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "?" "00168455" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "?" "00168456" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "?" "00168457" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "?" "00168458" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "?" "00168459" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168460" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168461" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168462" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168463" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168464" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168465" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168466" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168467" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168468" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168469" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168470" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168471" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168472" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168473" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168474" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168475" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168476" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168477" "" "" "" "1" "" "02416" "{PMID:Riazuddin 2008:18181211}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "?" "00168478" "" "" "" "1" "" "02416" "{PMID:Jacobson 2008:18463160}" "Proband" "M" "" "" "" "0" "" "" "" "?" "00168479" "" "" "" "1" "" "02416" "{PMID:Jacobson 2008:18463160}" "Relative" "M" "" "" "" "0" "" "" "" "?" "00168480" "" "" "" "1" "" "02416" "{PMID:Jacobson 2008:18463160}" "Proband" "M" "" "" "" "0" "" "" "" "?" "00168481" "" "" "" "1" "" "02416" "{PMID:Jacobson 2008:18463160}" "Proband" "F" "" "" "" "0" "" "" "" "?" "00168482" "" "" "" "1" "" "02416" "{PMID:Jacobson 2008:18463160}" "Proband" "M" "" "" "" "0" "" "" "" "?" "00168483" "" "" "" "1" "" "02416" "{PMID:Jacobson 2008:18463160}" "Proband" "F" "" "" "" "0" "" "" "" "?" "00168484" "" "" "" "1" "" "02416" "{PMID:Jacobson 2008:18463160}" "Proband" "F" "" "" "" "0" "" "" "" "?" "00168485" "" "" "" "1" "" "02416" "{PMID:Jacobson 2008:18463160}" "Relative" "F" "" "" "" "0" "" "" "" "?" "00168486" "" "" "" "1" "" "02416" "{PMID:Jacobson 2008:18463160}" "Proband" "M" "" "" "" "0" "" "" "" "?" "00168487" "" "" "" "1" "" "02416" "{PMID:Jacobson 2008:18463160}" "Proband" "F" "" "" "" "0" "" "" "" "?" "00168488" "" "" "" "1" "" "02416" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503} " "Proband" "" "" "" "" "0" "" "" "" "?" "00168490" "" "" "" "1" "" "02416" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503} " "Proband" "" "" "" "" "0" "" "" "" "?" "00168491" "" "" "" "1" "" "02416" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503} " "Proband" "" "" "" "" "0" "" "" "" "?" "00168492" "" "" "" "1" "" "02416" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503} " "Proband" "" "" "" "" "0" "" "" "" "?" "00168493" "" "" "" "1" "" "02416" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503} " "Proband" "" "" "" "" "0" "" "" "" "?" "00168494" "" "" "" "1" "" "02416" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503} " "Proband" "" "" "" "" "0" "" "" "" "?" "00168495" "" "" "" "1" "" "02416" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503} " "Proband" "" "" "" "" "0" "" "" "" "?" "00168496" "" "" "" "1" "" "02416" "{PMID:Adato 1999:10364543}" "Proband" "M" "" "Yemen" "" "0" "" "" "" "?" "00168497" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168498" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168499" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "Italy" "" "0" "" "" "" "?" "00168500" "" "" "" "1" "" "02416" "{PMID:Le Guédard-Méreuze 2010:20052763}" "Proband" "F" "" "Algeria" "" "0" "" "" "" "?" "00168501" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "Tunisia" "" "0" "" "" "" "?" "00168502" "" "" "" "1" "" "02416" "{PMID:Ammar-Khodja 2009:19375528}" "Proband" "M" "" "Algeria" "" "0" "" "" "" "?" "00168503" "" "" "" "1" "" "02416" "{PMID:Ammar-Khodja 2009:19375528}" "Proband" "M" "" "Algeria" "" "0" "" "" "" "?" "00168506" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168507" "" "" "" "1" "" "02416" "{PMID:Le Guédard-Méreuze 2010:20052763}" "Relative" "M" "" "France" "" "0" "" "" "" "?" "00168508" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168509" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168510" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "Portugal" "" "0" "" "" "" "?" "00168511" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "Morocco" "" "0" "" "" "" "?" "00168515" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168516" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168517" "" "" "" "1" "" "02417" "" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168640" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "" "" "0" "" "" "" "?" "00168641" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168642" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "" "" "0" "" "" "" "?" "00168646" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168647" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168648" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168649" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168650" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168651" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "Algeria" "" "0" "" "" "" "?" "00168652" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168653" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "" "" "0" "" "" "" "?" "00168654" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "?" "00168655" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "" "" "0" "" "" "" "?" "00168656" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168658" "" "" "" "1" "" "02416" "{PMID:Kimberling 2010:20613545}" "Proband - No ophtalmologic examination" "" "" "United States" "" "0" "" "" "" "?" "00168659" "" "" "" "1" "" "02416" "{PMID:Kimberling 2010:20613545}" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168660" "" "" "" "1" "" "02416" "{PMID:Kimberling 2010:20613545}" "Proband - No ophtalmologic examination" "" "" "United States" "" "0" "" "" "" "?" "00168661" "" "" "" "1" "" "02416" "{PMID:Kimberling 2010:20613545}" "Proband - No ophtalmologic examination" "" "" "United States" "" "0" "" "" "" "?" "00168662" "" "" "" "1" "" "02416" "{PMID:Nakanishi 2010:20844544}" "Proband" "F" "" "Japan" "" "0" "" "" "" "?" "00168663" "" "" "" "1" "" "02416" "{PMID:Nakanishi 2010:20844544}" "Proband" "M" "" "Japan" "" "0" "" "" "" "?" "00168665" "" "" "" "1" "" "02416" "{PMID:Ben Rebeh 2010:21031134}" "Proband" "F" "" "Tunisia" "" "0" "" "" "" "?" "00168667" "" "" "" "1" "" "02416" "{PMID:Malm 2010:21174530}" "Proband" "" "" "Sweden" "" "0" "" "" "" "?" "00168668" "" "" "" "1" "" "02416" "{PMID:Sun 2011:21150918}" "Proband" "" "" "China" "" "0" "" "" "" "?" "00168669" "" "" "" "1" "" "02416" "{PMID:Sun 2011:21150918}" "Relative" "" "" "China" "" "0" "" "" "" "?" "00168670" "" "" "" "1" "" "02416" "{PMID:Sun 2011:21150918}" "Proband" "" "" "China" "" "0" "" "" "" "?" "00168671" "" "" "" "1" "" "02416" "{PMID:Sun 2011:21150918}" "Relative" "" "" "China" "" "0" "" "" "" "?" "00168672" "" "" "" "1" "" "02416" "{PMID:Street 2004:15121790}" "Relative" "F" "" "United States" "" "0" "" "" "" "?" "00168673" "" "" "" "1" "" "02416" "{PMID:Duman 2011:21117948}" "Proband" "" "" "Turkey" "" "0" "" "" "" "?" "00168674" "" "" "" "1" "" "02416" "{PMID:Duman 2011:21117948}" "Relative" "" "" "Turkey" "" "0" "" "" "" "?" "00168675" "" "" "" "1" "" "02416" "{PMID:Duman 2011:21117948}" "Relative" "" "" "Turkey" "" "0" "" "" "" "?" "00168676" "" "" "" "1" "" "02416" "{PMID:Duman 2011:21117948}" "Proband" "" "" "Turkey" "" "0" "" "" "" "?" "00168677" "" "" "" "1" "" "02416" "{PMID:Duman 2011:21117948}" "Relative" "" "" "Turkey" "" "0" "" "" "" "?" "00168678" "" "" "" "1" "" "02416" "{PMID:Duman 2011:21117948}" "Relative" "" "" "Turkey" "" "0" "" "" "" "?" "00168681" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "?" "00168682" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "?" "00168683" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "?" "00168684" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "?" "00168685" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "?" "00168686" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "?" "00168687" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "?" "00168688" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "?" "00168689" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "?" "00168690" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "?" "00168691" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "?" "00168692" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "F" "" "" "" "0" "" "" "" "?" "00168693" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Relative" "F" "" "" "" "0" "" "" "" "?" "00168694" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "?" "00168696" "" "" "" "1" "" "02416" "{PMID:Vozzi 2011:21738395}" "Proband" "" "" "Italy" "" "0" "" "" "" "?" "00168697" "" "" "" "1" "" "02416" "{PMID:Vozzi 2011:21738395}" "Proband" "" "" "Italy" "" "0" "" "" "" "?" "00168698" "" "" "" "1" "" "02416" "{PMID:Vozzi 2011:21738395}" "Proband" "" "" "Italy" "" "0" "" "" "" "?" "00168699" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168700" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168701" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168702" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168703" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168704" "" "" "" "1" "" "02419" "{PMID:Saihan 2011:21487335}" "Relative" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168705" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168706" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00168710" "" "" "" "1" "" "02416" "{PMID:Rizel 2012:22219650}" "Proband" "M" "" "Israel" "" "0" "" "" "" "?" "00168711" "" "" "" "1" "" "02416" "{PMID:Rizel 2012:22219650}" "Proband" "M" "" "Israel" "" "0" "" "" "" "?" "00168712" "" "" "" "1" "" "02416" "{PMID:Rizel 2012:22219650}" "Relative" "M" "" "Israel" "" "0" "" "" "" "?" "00168713" "" "" "" "1" "" "02416" "{PMID:Neveling 2012:22334370}" "Proband" "M" "" "" "" "0" "" "" "" "?" "00168714" "" "" "" "1" "" "02416" "{PMID:Neveling 2012:22334370}" "Proband" "M" "" "" "" "0" "" "" "" "?" "00168715" "" "" "" "1" "" "02416" "{PMID:Vastinsalo 2012:22681893}" "Proband" "M" "" "Finland" "" "0" "" "" "" "?" "00168716" "" "" "" "1" "" "02416" "{PMID:Vastinsalo 2012:22681893}" "Proband" "F" "" "Finland" "" "0" "" "" "" "?" "00168717" "" "" "" "1" "" "02416" "{PMID:Vastinsalo 2012:22681893}" "Proband" "" "" "Finland" "" "0" "" "" "" "?" "00168718" "" "" "" "1" "" "02416" "{PMID:Vastinsalo 2012:22681893}" "Proband" "" "" "Finland" "" "0" "" "" "" "?" "00168719" "" "" "" "1" "" "02416" "{PMID:Vastinsalo 2012:22681893}" "Proband" "" "" "Finland" "" "0" "" "" "" "?" "00168720" "" "" "" "1" "" "02416" "{PMID:Zhou 2012:22690115}" "Proband" "M" "" "Canada" "" "0" "" "" "" "?" "00168721" "" "" "" "1" "" "02416" "{PMID:Zhou 2012:22690115}" "Proband" "M" "" "Canada" "" "0" "" "" "" "?" "00168722" "" "" "" "1" "" "02416" "{PMID:Zhou 2012:22690115}" "Proband" "F" "" "Canada" "" "0" "" "" "" "?" "00168723" "" "" "" "1" "" "02416" "{PMID:Zhou 2012:22690115}" "Relative" "F" "" "Canada" "" "0" "" "" "" "?" "00168724" "" "" "" "1" "" "02416" "{PMID:Wei 2012:22898263}" "Proband" "M" "" "China" "" "0" "" "" "" "?" "00168725" "" "" "" "1" "" "02416" "{PMID:Yoshimura 2012:23237960}" "Proband" "M" "" "Japan" "" "0" "" "" "" "?" "00168726" "" "" "" "1" "" "02416" "{PMID:Yoshimura 2012:23237960}" "Proband - 2 yrs old, too young to assess visual impairment" "" "" "Japan" "" "0" "" "" "" "?" "00168728" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "" "" "Spain" "" "0" "" "" "" "?" "00168729" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "M" "" "Morocco" "" "0" "" "" "" "?" "00168730" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "F" "" "" "" "0" "" "" "" "?" "00168731" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "M" "" "" "" "0" "" "" "" "?" "00168732" "" "" "" "1" "" "02416" "{PMID:Liu 2013:23559863}" "Proband" "M" "" "China" "" "0" "" "" "" "?" "00168733" "" "" "" "1" "" "02416" "{PMID:Glöcke 2013:23591405}" "Proband" "" "" "" "" "0" "" "" "" "?" "00168734" "" "" "" "1" "" "02416" "{PMID:Glöcke 2013:23591405}" "Proband" "" "" "" "" "0" "" "" "" "?" "00168735" "" "" "" "1" "" "02416" "{PMID:Yang 2013:23767834}" "Proband" "" "" "China" "" "0" "" "" "" "?" "00168740" "" "" "" "1" "" "02416" "{PMID:Goldenberg-Cohen 2013:23882135}" "Proband" "F" "" "Israel" "" "0" "" "" "" "?" "00168741" "" "" "" "1" "" "02416" "{PMID:Goldenberg-Cohen 2013:23882135}" "Proband" "M" "" "Israel" "" "0" "" "" "" "?" "00168742" "" "" "" "1" "" "00143" "{PMID:Krawitz 2014:25333064}" "Proband" "F" "" "Germany" "" "0" "" "" "" "?" "00168743" "" "" "" "1" "" "00143" "{PMID:Krawitz 2014:25333064}" "Proband" "F" "" "Germany" "" "0" "" "" "" "?" "00168744" "" "" "" "1" "" "00143" "{PMID:Krawitz 2014:25333064}" "Proband" "F" "" "Germany" "" "0" "" "" "" "?" "00168745" "" "" "" "1" "" "02416" "{PMID:Mutai 2013:24164807}" "Proband" "F" "" "Japan" "" "0" "" "" "" "?" "00168746" "" "" "" "1" "" "02416" "{PMID:Mutai 2013:24164807}" "Relative" "F" "" "Japan" "" "0" "" "" "" "?" "00168747" "" "" "" "1" "" "02416" "{PMID:Ben-Salem 2014:24194196}" "Proband - DFNB2?" "M" "" "Iraq" "" "0" "" "" "" "?" "00168748" "" "" "" "1" "" "02416" "{PMID:Ben-Salem 2014:24194196}" "Proband" "M" "" "United Arab Emirates" "" "0" "" "" "" "?" "00168749" "" "" "" "1" "" "02416" "{PMID:Yoshimura 2014:24618850}" "Proband" "" "" "Japan" "" "0" "" "" "" "?" "00168750" "" "" "" "1" "" "02416" "{PMID:Yoshimura 2014:24618850}" "Proband" "" "" "Japan" "" "0" "" "" "" "?" "00168751" "" "" "" "1" "" "02416" "{PMID:Yoshimura 2014:24618850}" "Proband" "" "" "Japan" "" "0" "" "" "" "?" "00168752" "" "" "" "1" "" "02416" "{PMID:Yoshimura 2014:24618850}" "Proband" "" "" "Japan" "" "0" "" "" "" "?" "00168753" "" "" "" "1" "" "02416" "{PMID:Yoshimura 2014:24618850}" "Proband" "" "" "Japan" "" "0" "" "" "" "?" "00168754" "" "" "" "1" "" "02416" "{PMID:Gao 2014:25080338}" "Proband" "M" "" "China" "" "0" "" "" "" "?" "00168755" "" "" "" "1" "" "02416" "{PMID:Gao 2014:25080338}" "Relative" "F" "" "China" "" "0" "" "" "" "?" "00168756" "" "" "" "1" "" "02416" "{PMID:Gao 2014:25080338}" "Relative" "M" "" "China" "" "0" "" "" "" "?" "00168757" "" "" "" "1" "" "02416" "{PMID:Vona 2014:24875298}" "Proband" "M" "" "Germany" "" "0" "" "" "" "?" "00168758" "" "" "" "1" "" "00764" "{PMID:Reddy 2014:25211151}" "Proband" "M" "" "Egypt" "" "0" "" "" "" "?" "00168759" "" "" "" "1" "" "00764" "{PMID:Reddy 2014:25211151}" "Proband" "F" "" "Lebanon" "" "0" "" "" "" "?" "00168760" "" "" "" "1" "" "00764" "{PMID:Reddy 2014:25211151}" "Proband" "F" "" "Jordan" "" "0" "" "" "" "?" "00168761" "" "" "" "1" "" "02423" "{PMID:Guzman 2016:26864046}" "Proband" "F" "" "Venezuela" "" "0" "" "" "" "?" "00168762" "" "" "" "1" "" "00764" "{PMID:Reddy 2014:25211151}" "Relative" "M" "" "Egypt" "" "0" "" "" "" "?" "00168763" "" "" "" "1" "" "00764" "{PMID:Reddy 2014:25211151}" "Relative" "F" "" "Jordan" "" "0" "" "" "" "?" "00168764" "" "" "" "1" "" "00764" "{PMID:Reddy 2014:25211151}" "Relative" "F" "" "Jordan" "" "0" "" "" "" "?" "00168765" "" "" "" "1" "" "02416" "{PMID:Shahin 2014:19888295}" "Proband" "M" "" "Palestine" "" "0" "" "" "" "?" "00168766" "" "" "" "1" "" "02416" "{PMID:Shahin 2014:19888295}" "Relative" "F" "" "Palestine" "" "0" "" "" "" "?" "00168767" "" "" "" "1" "" "02416" "{PMID:Shahin 2014:19888295}" "Relative" "M" "" "Palestine" "" "0" "" "" "" "?" "00168768" "" "" "" "1" "" "02416" "{PMID:Aparisi 2014:25404053}" "Proband" "" "" "Spain" "" "0" "" "" "" "?" "00168769" "" "" "" "1" "" "02416" "{PMID:Aparisi 2014:25404053}" "Proband" "" "" "Spain" "" "0" "" "" "" "?" "00168770" "" "" "" "1" "" "02416" "{PMID:Aparisi 2014:25404053}" "Proband" "" "" "Spain" "" "0" "" "" "" "?" "00168771" "" "" "" "1" "" "02416" "{PMID:Aparisi 2014:25404053}" "Proband" "" "" "Spain" "" "0" "" "" "" "?" "00168772" "" "" "" "1" "" "02416" "{PMID:Aparisi 2014:25404053}" "Proband" "" "" "Spain" "" "0" "" "" "" "?" "00168773" "" "" "" "1" "" "02416" "{PMID:Aparisi 2014:25404053}" "Proband" "" "" "Spain" "" "0" "" "" "" "?" "00168774" "" "" "" "1" "" "02416" "{PMID:Aparisi 2014:25404053}" "Proband" "" "" "Spain" "" "0" "" "" "" "?" "00168775" "" "" "" "1" "" "02416" "{PMID:Sodi 2014:25558175}" "Proband" "" "" "Italy" "" "0" "" "" "" "?" "00168776" "" "" "" "1" "" "02416" "{PMID:Sodi 2014:25558175}" "Proband" "" "" "Italy" "" "0" "" "" "" "?" "00168777" "" "" "" "1" "" "02416" "{PMID:Sodi 2014:25558175}" "Proband" "" "" "Italy" "" "0" "" "" "" "?" "00168778" "" "" "" "1" "" "02416" "{PMID:Sodi 2014:25558175}" "Proband" "" "" "Italy" "" "0" "" "" "" "?" "00168779" "" "" "" "1" "" "02416" "{PMID:Sodi 2014:25558175}" "Proband" "" "" "Italy" "" "0" "" "" "" "?" "00168780" "" "" "" "1" "" "02416" "{PMID:Sodi 2014:25558175}" "Proband" "" "" "Italy" "" "0" "" "" "" "?" "00168781" "" "" "" "1" "" "02416" "{PMID:Sodi 2014:25558175}" "Proabnd" "" "" "Italy" "" "0" "" "" "" "?" "00168782" "" "" "" "1" "" "02416" "{PMID:Licastro 2012:22952768}" "Proband" "" "" "Italy" "" "0" "" "" "" "?" "00168783" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "M" "" "United States" "" "0" "" "" "" "?" "00168784" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Relative" "M" "" "United States" "" "0" "" "" "" "?" "00168785" "" "" "" "1" "" "02416" "{PMID:Bharadwaj 2000:10930322}" "Proband" "" "" "Ireland" "" "0" "" "" "" "?" "00168786" "" "" "" "1" "" "00110" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168787" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168788" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168789" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "?" "00168790" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Relative" "" "" "United States" "" "0" "" "" "" "?" "00168791" "" "" "" "1" "" "02416" "{PMID:Lenarduzzi 2015:25575603}" "Proband" "" "" "Italy" "" "0" "" "" "" "?" "00168792" "" "" "" "1" "" "02416" "{PMID:Lenarduzzi 2015:25575603}" "Proband" "" "" "Italy" "" "0" "" "" "" "?" "00168793" "" "" "" "1" "" "02416" "{PMID:Qu 2014:25252889}" "Proband" "F" "" "China" "" "0" "" "" "" "?" "00168794" "" "" "" "1" "" "02416" "{PMID:Qu 2014:25252889}" "Relative" "M" "" "China" "" "0" "" "" "" "?" "00168795" "" "" "" "1" "" "02416" "{PMID:Zhai 2015:26309859}" "Proband" "M" "" "China" "" "0" "" "" "" "?" "00168796" "" "" "" "1" "" "02416" "{PMID:Jiang 2015:26338283}" "Proband" "M" "" "China" "" "0" "" "" "" "?" "00168797" "" "" "" "1" "" "02416" "{PMID:Jiang 2015:26338283}" "Proband" "M" "" "China" "" "0" "" "" "" "?" "00168798" "" "" "" "1" "" "02416" "{PMID:Jiang 2015:26338283}" "Proband" "M" "" "China" "" "0" "" "" "" "?" "00168799" "" "" "" "1" "" "02416" "{PMID:Jiang 2015:26338283}" "Proband" "F" "" "China" "" "0" "" "" "" "?" "00168800" "" "" "" "1" "" "02416" "{PMID:Jiang 2015:26338283}" "Proband" "F" "" "China" "" "0" "" "" "" "?" "00168801" "" "" "" "1" "" "02416" "{PMID:Jiang 2015:26338283}" "Proband" "F" "" "China" "" "0" "" "" "" "?" "00168802" "" "" "" "1" "" "02416" "{PMID:Jiang 2015:26338283}" "Proband" "M" "" "China" "" "0" "" "" "" "?" "00168803" "" "" "" "1" "" "02416" "{PMID:Jiang 2015:26338283}" "Proband" "M" "" "China" "" "0" "" "" "" "?" "00168804" "" "" "" "1" "" "02416" "{PMID:Jiang 2015:26338283}" "Proband" "F" "" "China" "" "0" "" "" "" "?" "00168805" "" "" "" "1" "" "02416" "{PMID:Roberts 2015:26469752}" "Proband" "M" "" "South Africa" "" "0" "" "" "" "?" "00168806" "" "" "" "1" "" "02416" "{PMID:Roberts 2015:26469752}" "Proband" "F" "" "South Africa" "" "0" "" "" "" "?" "00168807" "" "" "" "1" "" "02416" "{PMID:Roberts 2015:26469752}" "Relative" "F" "" "South Africa" "" "0" "" "" "" "?" "00168808" "" "" "" "1" "" "02416" "{PMID:Roberts 2015:26469752}" "Relative" "F" "" "South Africa" "" "0" "" "" "" "?" "00168809" "" "" "" "1" "" "02416" "{PMID:Roberts 2015:26469752}" "Relative" "M" "" "South Africa" "" "0" "" "" "" "?" "00168810" "" "" "" "1" "" "02416" "{PMID:Roberts 2015:26469752}" "Proband" "F" "" "South Africa" "" "0" "" "" "" "?" "00168811" "" "" "" "1" "" "02416" "{PMID:Roberts 2015:26469752}" "Proband" "F" "" "South Africa" "" "0" "" "" "" "?" "00168812" "" "" "" "1" "" "02416" "{PMID:Roberts 2015:26469752}" "Proband" "M" "" "South Africa" "" "0" "" "" "" "?" "00168813" "" "" "" "1" "" "02416" "{PMID:Roberts 2015:26469752}" "Relative" "F" "" "South Africa" "" "0" "" "" "" "?" "00168814" "" "" "" "1" "" "02416" "{PMID:Roberts 2015:26469752}" "Proband" "M" "" "South Africa" "" "0" "" "" "" "?" "00168815" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Germany" "" "0" "" "" "" "?" "00168816" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Germany" "" "0" "" "" "" "?" "00168817" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Germany" "" "0" "" "" "" "?" "00168818" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168819" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Italy" "" "0" "" "" "" "?" "00168820" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Germany" "" "0" "" "" "" "?" "00168821" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Germany" "" "0" "" "" "" "?" "00168822" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Germany" "" "0" "" "" "" "?" "00168823" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Germany" "" "0" "" "" "" "?" "00168824" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Germany" "" "0" "" "" "" "?" "00168825" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Germany" "" "0" "" "" "" "?" "00168826" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Germany" "" "0" "" "" "" "?" "00168827" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Germany" "" "0" "" "" "" "?" "00168828" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168829" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168830" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168831" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168832" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168833" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168834" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168835" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168836" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168837" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168838" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168839" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168840" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168841" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168842" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168843" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168844" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168845" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168846" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168847" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168848" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168849" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168850" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168851" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168852" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168853" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168854" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168855" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168856" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168857" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168858" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168859" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168860" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168861" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168862" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168863" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168864" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168865" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168866" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168867" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168868" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168869" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168870" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168871" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168872" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168873" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168874" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168875" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Italy" "" "0" "" "" "" "?" "00168876" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168877" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Italy" "" "0" "" "" "" "?" "00168878" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Italy" "" "0" "" "" "" "?" "00168879" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Italy" "" "0" "" "" "" "?" "00168880" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Italy" "" "0" "" "" "" "?" "00168881" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Italy" "" "0" "" "" "" "?" "00168882" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Italy" "" "0" "" "" "" "?" "00168883" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Italy" "" "0" "" "" "" "?" "00168884" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Italy" "" "0" "" "" "" "?" "00168885" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Italy" "" "0" "" "" "" "?" "00168886" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Italy" "" "0" "" "" "" "?" "00168887" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Italy" "" "0" "" "" "" "?" "00168888" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Italy" "" "0" "" "" "" "?" "00168889" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Italy" "" "0" "" "" "" "?" "00168890" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Italy" "" "0" "" "" "" "?" "00168891" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Italy" "" "0" "" "" "" "?" "00168892" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Slovenia" "" "0" "" "" "" "?" "00168893" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Slovenia" "" "0" "" "" "" "?" "00168894" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Slovenia" "" "0" "" "" "" "?" "00168895" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Slovenia" "" "0" "" "" "" "?" "00168896" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Slovenia" "" "0" "" "" "" "?" "00168897" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Slovenia" "" "0" "" "" "" "?" "00168898" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Slovenia" "" "0" "" "" "" "?" "00168899" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Slovenia" "" "0" "" "" "" "?" "00168900" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Slovenia" "" "0" "" "" "" "?" "00168901" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Slovenia" "" "0" "" "" "" "?" "00168902" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Slovenia" "" "0" "" "" "" "?" "00168903" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Slovenia" "" "0" "" "" "" "?" "00168904" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168905" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Spain" "" "0" "" "" "" "?" "00168906" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "?" "00168907" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168908" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "?" "00168909" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Spain" "" "0" "" "" "" "?" "00168910" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168911" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168912" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Spain" "" "0" "" "" "" "?" "00168913" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Spain" "" "0" "" "" "" "?" "00168914" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168915" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168916" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168917" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Spain" "" "0" "" "" "" "?" "00168918" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168919" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Spain" "" "0" "" "" "" "?" "00168920" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "?" "00168921" "" "" "" "1" "" "02428" "{PMID:Abdi 2016:27583663}" "Proband" "F" "" "Algeria" "" "0" "" "" "" "?" "00168922" "" "" "" "1" "" "02428" "{PMID:Abdi 2016:27583663}" "Proband" "M" "" "Algeria" "" "0" "" "" "" "?" "00168923" "" "" "" "1" "" "02428" "{PMID:Abdi 2016:27583663}" "Proband" "F" "" "Algeria" "" "0" "" "" "" "?" "00168924" "" "" "" "1" "" "02428" "{PMID:Abdi 2016:27583663}" "Proband" "F" "" "Algeria" "" "0" "" "" "" "?" "00168925" "" "" "" "1" "" "02428" "{PMID:Abdi 2016:27583663}" "Proband" "M" "" "Algeria" "" "0" "" "" "" "?" "00168926" "" "" "" "1" "" "02428" "{PMID:Abdi 2016:27583663}" "Proband" "F" "" "Algeria" "" "0" "" "" "" "?" "00168927" "" "" "" "1" "" "02416" "{PMID:Khateb 2016:27208209}" "Proband" "" "" "Israel" "" "0" "" "" "" "?" "00168928" "" "" "" "1" "" "02416" "{PMID:Khateb 2016:27208209}" "Proband" "" "" "Israel" "" "0" "" "" "" "?" "00168929" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "Proband" "M" "" "France" "" "0" "" "" "" "S1741" "00168930" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "Proband" "F" "" "France" "" "0" "" "" "" "S1692" "00168931" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "Proband" "F" "" "France" "" "0" "" "" "" "S1779" "00168932" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "Proband" "F" "" "France" "" "0" "" "" "" "S1763" "00168933" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "Proband" "M" "" "France" "" "0" "" "" "" "S1799" "00168934" "" "" "" "1" "" "02430" "{PMID:Ivanova 2018:30358468}" "" "M" "" "Ukraine" "" "0" "" "" "" "Pat2" "00168935" "" "" "" "1" "" "02430" "{PMID:Ivanova 2018:30358468}" "" "M" "" "Russian Federation" "" "0" "" "" "Slavonian" "Pat6" "00168936" "" "" "" "1" "" "02430" "{PMID:Ivanova 2018:30358468}" "Proband" "F" "" "Russian Federation" "" "0" "" "" "Slavonian" "Pat7" "00168937" "" "" "" "1" "" "02430" "{PMID:Ivanova 2018:30358468}" "Proband" "F" "" "Russian Federation" "" "0" "" "" "Slavonian" "Pat15" "00168938" "" "" "" "1" "" "02430" "{PMID:Ivanova 2018:30358468}" "Proband" "M" "" "Russian Federation" "" "0" "" "" "Slavonian" "Pat23" "00168939" "" "" "" "1" "" "02430" "{PMID:Ivanova 2018:30358468}" "Proband" "F" "" "Russian Federation" "" "0" "" "" "Slavonian" "Pat22" "00168940" "" "" "" "1" "" "02430" "{PMID:Ivanova 2018:30358468}" "Proband" "M" "" "Russian Federation" "" "0" "" "" "Slavonian" "Pat21" "00240449" "" "" "" "1" "" "03335" "" "" "F" "" "Mexico" "" "0" "" "" "" "" "00263969" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00275693" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00276088" "" "" "" "4" "" "00006" "{PMID:Kastner 2015:26720455}" "4-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives" "F;M" "" "Turkey" "" "0" "" "" "" "FamD" "00290535" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290536" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290537" "" "" "" "60" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290538" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290539" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290540" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290541" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290542" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290543" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290544" "" "" "" "36" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290545" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290547" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295132" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295255" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299640" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "3-generation family, 1 affeted, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "FamGC18203Pat1" "00304321" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304322" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306911" "" "" "" "1" "" "03388" "{PMID:Razmara 2018:29511501}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "Iran" "" "0" "" "" "" "AT1220" "00307310" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00308522" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308523" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308616" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 homozygous patient" "" "" "Norway" "" "0" "" "" "" "" "00309225" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309226" "" "" "" "7" "" "00004" "{PMID:Sharon 2019:31456290}" "7 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309227" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309228" "" "" "" "5" "" "00004" "{PMID:Sharon 2019:31456290}" "5 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309229" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309230" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309231" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309232" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309233" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309234" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309235" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309236" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309237" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309238" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309239" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309556" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP689" "00309569" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP1567" "00309570" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP1580" "00309575" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP1757t" "00309576" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP1768t" "00309584" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP1900" "00309586" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP1944" "00309587" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP1967" "00309588" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP1969" "00309604" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP2069" "00309611" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP2020" "00309863" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "HL004" "00314769" "" "" "" "2" "" "00006" "{DOI:Kannan-Sundhari 2020:32991204}" "4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Iran" "" "0" "" "" "" "KF-2" "00314770" "" "" "" "4" "" "00006" "{DOI:Kannan-Sundhari 2020:32991204}" "3-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Iran" "" "0" "" "" "" "KF-5" "00314771" "" "" "" "2" "" "00006" "{DOI:Kannan-Sundhari 2020:32991204}" "4-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Iran" "" "0" "" "" "" "KF-22" "00324398" "" "" "" "1" "" "00006" "{PMID:Derar 2019:29892088}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Saudi Arabia" "" "0" "" "" "" "Pat2" "00325480" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "3531" "00327384" "" "" "" "1" "" "03611" "" "" "" "" "" "" "" "" "" "" "" "00327990" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G001025" "00327992" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G001027" "00327993" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G001028" "00327995" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G001030" "00327996" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G001031" "00328076" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G004992" "00328121" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G005247" "00328164" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G006299" "00328508" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "no family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16004167" "00331306" "" "" "" "1" "" "00000" "{PMID:Chen 2018:29692870}" "" "" "" "China" "" "0" "" "" "Uyghur" "FamJ03" "00331605" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19101" "00331606" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "family" "" "no" "China" "" "0" "" "" "" "19147" "00331607" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19289" "00331608" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19303" "00331609" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19594" "00331610" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19810" "00331611" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19838" "00331612" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19856" "00331613" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19942" "00331614" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19966" "00331622" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19745" "00331623" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19785" "00331624" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19762" "00331629" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19050" "00331630" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19704" "00331631" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "yes" "China" "" "0" "" "" "" "73013" "00331700" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19524" "00331707" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "" "" "" "China" "" "0" "" "" "" "19716" "00332433" "" "" "" "1" "" "00000" "{PMID:Eandi 2017:29142287}" "" "M" "" "Italy" "" "0" "" "" "" "Fam5PatTO6" "00332434" "" "" "" "1" "" "00000" "{PMID:Eandi 2017:29142287}" "" "F" "" "Italy" "" "0" "" "" "" "Fam6PatTO7" "00332438" "" "" "" "1" "" "00000" "{PMID:Eandi 2017:29142287}" "" "M" "" "Italy" "" "0" "" "" "" "Fam9PatTO11" "00332443" "" "" "" "2" "" "00000" "{PMID:Eandi 2017:29142287}" "2-generation family, 2 affected" "M" "" "Italy" "" "0" "" "" "" "Fam13PatTO16" "00332444" "" "" "00332443" "1" "" "00000" "{PMID:Eandi 2017:29142287}" "brother" "M" "" "Italy" "" "0" "" "" "" "Fam13PatTO17" "00332499" "" "" "" "1" "" "00000" "{PMID:Avela 2018:29068140}" "" "" "" "Finland" "" "0" "" "" "" "Pat24" "00333428" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD6–06" "00333647" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "530" "00333849" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "47" "00334007" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "524" "00334008" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "525" "00334009" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "526" "00334010" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "527" "00334011" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "528" "00334012" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "529" "00335249" "" "" "" "2" "" "00000" "{PMID:Riera 2017:28181551}" "family, several affected" "" "" "Spain" "" "0" "" "" "" "Fi15/35" "00335277" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "family" "" "" "Spain" "" "0" "" "" "" "Pat60" "00335841" "" "" "" "1" "" "00000" "{PMID:Dad 2016:27957503}" "" "F" "no" "Denmark" "" "0" "" "" "" "USH1-1" "00335842" "" "" "" "1" "" "00000" "{PMID:Dad 2016:27957503}" "" "F" "no" "Denmark" "" "0" "" "" "" "USH1-2" "00335843" "" "" "" "1" "" "00000" "{PMID:Dad 2016:27957503}" "" "F" "no" "Denmark" "" "0" "" "" "" "USH1-3" "00335844" "" "" "" "1" "" "00000" "Tranebjaerg 2011, {PMID:Dad 2016:27957503}" "" "F" "no" "Denmark" "" "0" "" "" "" "USH1-4" "00335845" "" "" "" "2" "" "00000" "Tranebjaerg 2011, {PMID:Dad 2016:27957503}" "family, 2 affeted" "F" "no" "Denmark" "" "0" "" "" "" "USH1-5" "00335846" "" "" "00335845" "1" "" "00000" "Tranebjaerg 2011, {PMID:Dad 2016:27957503}" "" "F" "no" "Denmark" "" "0" "" "" "" "USH1-5A" "00335850" "" "" "" "1" "" "00000" "{PMID:Cremers 2007:16963483}" "" "M" "no" "Denmark" "" "0" "" "" "" "USH1-10" "00335851" "" "" "" "1" "" "00000" "Tranebjaerg 2011, {PMID:Dad 2016:27957503}" "" "F" "no" "Denmark" "" "0" "" "" "" "USH1-11" "00335853" "" "" "" "1" "" "00000" "Tranebjaerg 2011, {PMID:Dad 2016:27957503}" "" "F" "no" "Turkey" "" "0" "" "" "" "USH1-14" "00335855" "" "" "" "1" "" "00000" "{PMID:Cremers 2007:16963483}" "" "M" "no" "Denmark" "" "0" "" "" "" "USH1-18" "00335860" "" "" "" "1" "" "00000" "{PMID:Cremers 2007:16963483}" "" "F" "no" "Denmark" "" "0" "" "" "" "USH1-23" "00335861" "" "" "" "1" "" "00000" "{PMID:Cremers 2007:16963483}" "" "F" "no" "Denmark" "" "0" "" "" "" "USH1-25" "00335862" "" "" "" "1" "" "00000" "{PMID:Cremers 2007:16963483}" "" "M" "no" "Denmark" "" "0" "" "" "" "USH1-27" "00335863" "" "" "" "1" "" "00000" "{PMID:Cremers 2007:16963483}" "" "F" "no" "Denmark" "" "0" "" "" "" "USH1-28" "00335864" "" "" "" "2" "" "00000" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503}" "family, 2 affeted" "F" "no" "Denmark" "" "0" "" "" "" "USH1-29" "00335865" "" "" "00335864" "1" "" "00000" "{PMID:Dad 2016:27957503}" "" "M" "no" "Denmark" "" "0" "" "" "" "USH1-29A" "00335866" "" "" "" "1" "" "00000" "{PMID:Dad 2016:27957503}" "" "F" "no" "Sri Lanka" "" "0" "" "" "" "USH1-30" "00335867" "" "" "" "1" "" "00000" "{PMID:Dad 2016:27957503}" "" "F" "no" "Denmark" "" "0" "" "" "" "USH1-31" "00335980" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 486 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00358826" "" "" "" "4" "" "00000" "{PMID:Ben-Rebeh 2016:27440999}" "4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "" "yes" "Tunisia" "" "0" "" "" "" "USHTF1" "00358827" "" "" "" "4" "" "00000" "{PMID:Ben-Rebeh 2016:27440999}" "3-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives" "" "yes" "Tunisia" "" "0" "" "" "" "USHTF2" "00359079" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13005796" "00359244" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "12015998" "00359248" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "12000202" "00359252" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "12006582" "00359258" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "10002008" "00361770" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "yes" "Iran" "" "0" "" "" "" "Pat1" "00361775" "" "" "" "2" "" "02404" "{PMID:Bahena 2021:34148116}" "" "M" "yes" "Iran" "" "0" "" "" "" "Pat2" "00361778" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "no" "Iran" "" "0" "" "" "" "Pat3" "00361779" "" "" "" "3" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "yes" "Iran" "" "0" "" "" "" "Pat4" "00361780" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "M" "" "Iran" "" "0" "" "" "" "Pat5" "00361781" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "no" "Iran" "" "0" "" "" "" "Pat6" "00361782" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "no" "Iran" "" "0" "" "" "" "Pat7" "00361783" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "yes" "Iran" "" "0" "" "" "" "Pat8" "00361784" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "M" "?" "Iran" "" "0" "" "" "" "Pat9" "00361785" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "M" "no" "Iran" "" "0" "" "" "" "Pat10" "00361786" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "M" "no" "Iran" "" "0" "" "" "" "Pat12" "00361787" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "yes" "Iran" "" "0" "" "" "" "Pat15" "00361788" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "M" "yes" "Iran" "" "0" "" "" "" "Pat16" "00363194" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "no" "Saudi Arabia" "" "0" "" "" "" "Pat101" "00363195" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PatDEM289" "00363196" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PatDEM318" "00363197" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Pat94" "00363198" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Pat102" "00363199" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Pat110" "00363200" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "no" "Italy" "" "0" "" "" "" "Pat87" "00363201" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PatDEM279" "00363202" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "no" "Turkey" "" "0" "" "" "" "Pat1" "00363203" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "no" "Germany" "" "0" "" "" "" "Pat63" "00363204" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Pat88" "00363205" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "no" "Germany" "" "0" "" "" "" "Pat53" "00363206" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "no" "Germany;Iraq" "" "0" "" "" "Persia" "Pat109" "00363207" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "yes" "Syria" "" "0" "" "" "" "Pat130" "00363208" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "no" "Germany" "" "0" "" "" "" "Pat104" "00363209" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "no" "Germany" "" "0" "" "" "" "Pat5" "00363210" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "no" "Germany" "" "0" "" "" "" "Pat50" "00363211" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "no" "Turkey" "" "0" "" "" "" "Pat2" "00363212" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "no" "Germany" "" "0" "" "" "" "Pat99" "00363213" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Pat90" "00363214" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "yes" "Egypt" "" "0" "" "" "" "Pat9237" "00363215" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Pat117" "00363233" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "no" "Germany" "" "0" "" "" "" "Pat9" "00363234" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "no" "Germany" "" "0" "" "" "" "Pat11" "00363235" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "no" "Germany" "" "0" "" "" "" "Pat13" "00363236" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "no" "Germany" "" "0" "" "" "" "Pat14" "00363237" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "no" "Germany" "" "0" "" "" "" "Pat10" "00363681" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG0327" "00372515" "" "" "" "1" "" "00006" "{PMID:Chen 2015:26011067}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "China" "" "0" "" "" "Uyghur" "KLX13" "00372519" "" "" "" "1" "" "00006" "{PMID:Xu 2015:25999675}" "2-generation family, 1 affected, unaffected carrier parents" "M" "" "China" "" "0" "" "" "" "RP240" "00372681" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP292" "00373401" "" "" "" "4" "" "00000" "{PMID:Riahi 2015:25798947}" "6-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Tunisia" "" "0" "" "" "" "FamDF11" "00373404" "" "" "" "2" "" "00000" "{PMID:Riahi 2015:25798947}" "3-generation family, affected (F), unaffected parents" "F;M" "yes" "Tunisia" "" "0" "" "" "" "FamDF103" "00373818" "" "" "" "1" "" "00000" "{PMID:Méndez-Vidal 2014:25494902}" "" "" "" "Spain" "" "0" "" "" "" "Pat15" "00373844" "" "" "" "1" "" "00000" "{PMID:Zhao 2015:25472526}" "simplex case" "" "" "Northern Ireland" "" "0" "" "" "" "Rp41" "00374000" "" "" "" "5" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "no" "Mexico" "" "0" "" "" "" "Pat11" "00374001" "" "" "" "2" "" "02404" "{PMID:Bahena 2021:34148116}" "" "M" "no" "Mexico" "" "0" "" "" "" "Pat13" "00374002" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "M" "no" "Mexico" "" "0" "" "" "" "Pat14" "00375266" "" "" "" "2" "" "02404" "{PMID:Bahena 2021:34148116}" "" "M" "?" "Iran" "" "0" "" "" "" "Pat59" "00375351" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "family" "" "" "Japan" "" "0" "" "" "" "K6483" "00375433" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#028" "00379779" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0139" "00379846" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016112104" "00379847" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "F" "?" "China" "" "0" "" "" "Han Chinese" "2017010401" "00380145" "" "" "" "1" "" "00000" "{PMID:Patel 2018:30054919}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "15DG0530" "00380207" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP59" "?" "?" "Spain" "" "0" "" "" "" "?" "00380212" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP88, II:3" "?" "no" "Spain" "" "0" "" "" "" "II:3" "00380213" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP88, II:5" "?" "no" "Spain" "" "0" "" "" "" "II:5" "00380833" "" "" "" "1" "" "00000" "{PMID:Ivanova 2018:30358468}" "" "F" "" "Russian Federation" "" "0" "" "" "Slavonian" "Pat13" "00382565" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "427" "00382566" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "428" "00382567" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "429" "00382568" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "430" "00382569" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "431" "00383592" "" "" "" "1" "" "00000" "{PMID:Hagag 2020:31266775}" "" "?" "" "" "" "0" "" "" "" "Subject 030" "00383594" "" "" "" "1" "" "00000" "{PMID:Hagag 2020:31266775}" "" "?" "" "" "" "0" "" "" "" "Subject 034" "00383596" "" "" "" "1" "" "00000" "{PMID:Hagag 2020:31266775}" "" "?" "" "" "" "0" "" "" "" "Subject 038" "00383600" "" "" "" "1" "" "00000" "{PMID:Hagag 2020:31266775}" "" "?" "" "" "" "0" "" "" "" "Subject 042" "00383609" "" "" "" "1" "" "00000" "{PMID:Hagag 2020:31266775}" "" "?" "" "" "" "0" "" "" "" "Subject 054t" "00383611" "" "" "" "1" "" "00000" "{PMID:Hagag 2020:31266775}" "" "?" "" "" "" "0" "" "" "" "Subject 046" "00384227" "" "" "" "1" "" "00000" "{PMID:Li 2019:31035849}" "" "M" "no" "" "" "0" "" "" "" "Case 1" "00384228" "" "" "" "1" "" "00000" "{PMID:Li 2019:31035849}" "" "F" "no" "" "" "0" "" "" "" "Case 2" "00384635" "" "" "" "1" "" "00000" "{PMID:Ehrenberg 2019:31814694}" "" "F" "yes" "Israel" "" "0" "" "" "" "Family 13 patient 1" "00385149" "" "" "" "1" "" "00000" "{PMID:Jiman 2020:31836858}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "27" "00386878" "" "" "" "1" "" "00000" "{PMID:Zampaglione-2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-142" "00386883" "" "" "" "1" "" "00000" "{PMID:Zampaglione-2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-814" "00386890" "" "" "" "1" "" "00000" "{PMID:Zampaglione-2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2846_004431" "00386958" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00386961" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00386963" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00386964" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "?" "" "" "" "0" "" "" "" "" "00386966" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00386967" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00386971" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00386972" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387111" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "Hispanic" "137" "00387112" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "Hispanic" "138" "00387113" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "F" "" "(United States)" "" "0" "" "" "Hispanic" "139" "00387114" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "F" "" "(United States)" "" "0" "" "" "Other" "140" "00387115" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "F" "" "(United States)" "" "0" "" "" "Hispanic" "141" "00387144" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387148" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387165" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387168" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387178" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387180" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387188" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387191" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387193" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387198" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387201" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387202" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387210" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387213" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387219" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387220" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387225" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387226" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387230" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387232" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387235" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387237" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387239" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387240" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387241" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387242" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387243" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387248" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387251" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387254" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387258" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387267" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387269" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387270" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387277" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387278" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387281" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387283" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387291" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387293" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387294" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387299" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387302" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387304" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387305" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387307" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387316" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387325" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387330" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387334" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387339" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "?" "" "" "" "0" "" "" "" "" "00387340" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387341" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387343" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387344" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387345" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387347" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387348" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387349" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387350" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387351" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387353" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387354" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387355" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387356" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387357" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00388556" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.017" "00388557" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.018" "00388791" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 38, Usher syndrome type I, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "75" "00388802" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 43, Usher syndrome type I, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "86" "00388839" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 55, Usher syndrome type I, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "123" "00388842" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 56, Usher syndrome type I, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "126" "00388861" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 61, Usher syndrome type I, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "145" "00388875" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 65, Usher syndrome type I, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "159" "00388882" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 66, Usher syndrome type I, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "166" "00388891" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 68, Usher syndrome type I, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "175" "00389272" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 199, Usher syndrome type 2, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "556" "00389313" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 215, Usher syndrome type 2, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "597" "00389406" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 249, Usher syndrome type 2, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "690" "00390311" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001025" "00390312" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001027" "00390313" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001028" "00390314" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001030" "00390315" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001031" "00390316" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G004992" "00390317" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G005247" "00390318" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G006299" "00390809" "" "" "" "1" "" "00000" "{PMID:Khateb-2016:27208209}" "" "" "" "" "" "0" "" "" "North African/ Jewish" "" "00390810" "" "" "" "1" "" "00000" "{PMID:Khateb-2016:27208209}" "" "" "" "" "" "0" "" "" "North African/ Jewish" "" "00391370" "" "" "" "1" "" "00000" "{PMID:Méjécase 2020:3278337" "" "?" "" "United Arab Emirates" "" "0" "" "" "" "38" "00391579" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "?" "" "New Zealand" "" "0" "" "" "white" "76" "00392596" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "54" "00392638" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "119" "00392654" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "140" "00392664" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "156" "00392679" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "174" "00393625" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393921" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Moroccan Jew" "" "00393922" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "North African Jew" "" "00393923" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Arab Muslim" "" "00393924" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Arab Muslim" "" "00393925" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Arab Muslim" "" "00393926" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Arab Muslim" "" "00393927" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Arab Muslim" "" "00393928" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Arab Muslim" "" "00393929" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Arab Muslim" "" "00393930" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Arab Muslim" "" "00393931" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "North African Jew" "" "00393932" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "North African Jew" "" "00393933" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Arab Muslim" "" "00393934" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Arab Muslim" "" "00393935" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Arab Muslim" "" "00393936" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Arab Muslim" "" "00393937" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Samarian Jew" "" "00393938" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Samarian Jew" "" "00393939" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00394699" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394700" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394701" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394702" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394703" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394704" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394705" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394706" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394707" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394708" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394709" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394710" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394711" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00395782" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F278" "00395792" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F034" "00395961" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:32795431}" "pedigree ID: 20699, genetic ID: 31899" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "P7" "00395962" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:32795431}" "pedigree ID: 19131, genetic ID: 29686" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "P8" "00396209" "" "" "" "1" "" "00000" "{PMID:SkorczykWerner 2020:33308271}" "" "F" "" "" "" "0" "" "" "Polish" "" "00396211" "" "" "" "1" "" "00000" "{PMID:SkorczykWerner 2020:33308271}" "" "F" "" "" "" "0" "" "" "Polish" "" "00396219" "" "" "" "1" "" "00000" "{PMID:SkorczykWerner 2020:33308271}" "" "M" "" "" "" "0" "" "" "Polish" "" "00396228" "" "" "" "1" "" "00000" "{PMID:SkorczykWerner 2020:33308271}" "" "F" "" "" "" "0" "" "" "Polish" "" "00396229" "" "" "" "1" "" "00000" "{PMID:SkorczykWerner 2020:33308271}" "" "F" "" "" "" "0" "" "" "Polish" "" "00396232" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396233" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396234" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396235" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "1999(F-LMG353)" "00396236" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "2000(F-LMG353)" "00396237" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "2001(F-LMG353)" "00396238" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "2002(F-LMG353)" "00396261" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396262" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396263" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396264" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "1999(F-LMG353)" "00396265" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "2000(F-LMG353)" "00396266" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "2001(F-LMG353)" "00396267" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "2002(F-LMG353)" "00396288" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396289" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396290" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396291" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396419" "" "" "" "1" "" "00006" "{PMID:Ellingford 2016:26872967}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "10002008" "00396473" "" "" "" "1" "" "00000" "{PMID:Dockery 2017:29099798}" "no patient numbers in the paper, consecutive numbers given" "?" "" "Ireland" "" "0" "" "" "" "6" "00396479" "" "" "" "1" "" "00000" "{PMID:Dockery 2017:29099798}" "no patient numbers in the paper, consecutive numbers given" "?" "" "Ireland" "" "0" "" "" "" "12" "00399728" "" "" "" "1" "" "00000" "{PMID:Zong 2016:27729122}" "Healthy carrier (father)" "M" "no" "China" "" "0" "" "" "chinese" "II-1" "00399729" "" "" "" "1" "" "00000" "{PMID:Zong 2016:27729122}" "Healthy carrier (mother)" "F" "no" "China" "" "0" "" "" "chinese" "II-2" "00399730" "" "" "" "1" "" "00000" "{PMID:Zong 2016:27729122}" "" "M" "no" "China" "" "0" "" "" "chinese" "III-1" "00399731" "" "" "" "1" "" "00000" "{PMID:Zong 2016:27729122}" "Healthy carrier" "F" "no" "China" "" "0" "" "" "chinese" "III-2" "00399732" "" "" "" "1" "" "00000" "{PMID:Zong 2016:27729122}" "Healthy carrier" "F" "no" "China" "" "0" "" "" "chinese" "III-3" "00399733" "" "" "" "1" "" "00000" "{PMID:Zong 2016:27729122}" "" "M" "no" "China" "" "0" "" "" "chinese" "III-4" "00399734" "" "" "" "1" "" "00000" "{PMID:Zong 2016:27729122}" "" "M" "no" "China" "" "0" "" "" "chinese" "III-5" "00399737" "" "" "" "1" "" "00000" "{PMID:Ma 2016:26968074}" "sister of II:2" "F" "" "China" "" "0" "" "" "chinese" "II:1" "00399738" "" "" "" "1" "" "00000" "{PMID:Ma 2016:26968074}" "brother of II:1" "M" "" "China" "" "0" "" "" "chinese" "II:2" "00399739" "" "" "" "1" "" "00000" "{PMID:Bakhchane 2017:28472130}" "" "F" "" "" "" "0" "" "" "Moroccan" "SF01.02" "00399740" "" "" "" "2" "" "00000" "{PMID:Bakhchane 2017:28472130}" "" "M" "" "" "" "0" "" "" "Moroccan" "SF01:01,03" "00399741" "" "" "" "1" "" "00000" "{PMID:Bakhchane 2017:28472130}" "" "F" "" "" "" "0" "" "" "Moroccan" "SF42.03" "00399742" "" "" "" "1" "" "00000" "{PMID:Bakhchane 2017:28472130}" "" "M" "" "" "" "0" "" "" "Moroccan" "SF42.14" "00399743" "" "" "" "2" "" "00000" "{PMID:Bakhchane 2017:28472130}" "" "M;F" "" "" "" "0" "" "" "Moroccan" "SF42:04,06" "00399744" "" "" "" "4" "" "00000" "{PMID:Bakhchane 2017:28472130}" "" "M;F" "" "" "" "0" "" "" "Moroccan" "SF42:12,13,14,15" "00399745" "" "" "" "1" "" "00000" "{PMID:He 2017:28688563}" "" "F" "" "China" "" "0" "" "" "chinese" "II:2" "00399746" "" "" "" "1" "" "00000" "{PMID:Xia 2017:28731162}" "" "M" "yes" "China" "" "0" "" "" "chinese" "IV:4" "00399747" "" "" "" "1" "" "00000" "{PMID:Xia 2017:28731162}" "brother of IV:4" "M" "yes" "China" "" "0" "" "" "chinese" "IV:3" "00399748" "" "" "" "3" "" "00000" "{PMID:Xia 2017:28731162}" "Healthy carriers father and siblings of IV:3 and IV:4" "M" "yes" "China" "" "0" "" "" "chinese" "III:1, IV:1, IV:2" "00399749" "" "" "" "1" "" "00000" "{PMID:Kooshavar 2018:29287847}" "" "M" "yes" "Iran" "" "0" "" "" "iranian" "V:3" "00399750" "" "" "" "1" "" "00000" "{PMID:Kooshavar 2018:29287847}" "cousin of V:3" "M" "yes" "Iran" "" "0" "" "" "iranian" "V:8" "00399751" "" "" "" "1" "" "00000" "{PMID:Jia 2018:29287864}" "" "M" "" "China" "" "0" "" "" "chinese" "II:1" "00399752" "" "" "" "1" "" "00000" "{PMID:Jia 2018:29287864}" "" "M" "" "China" "" "0" "" "" "chinese" "II:1" "00399753" "" "" "" "1" "" "00000" "{PMID:Jia 2018:29287864}" "" "F" "" "China" "" "0" "" "" "chinese" "II:2" "00399754" "" "" "" "1" "" "00000" "{PMID:Jia 2018:29287864}" "" "F" "" "China" "" "0" "" "" "chinese" "II:2" "00399755" "" "" "" "1" "" "00000" "{PMID:LI 2018:29400105}" "" "F" "" "China" "" "0" "" "" "chinese" "III11" "00399756" "" "" "" "1" "" "00000" "{PMID:LI 2018:29400105}" "" "M" "" "China" "" "0" "" "" "chinese" "IV2" "00399757" "" "" "" "1" "" "00000" "{PMID:LI 2018:29400105}" "" "F" "" "China" "" "0" "" "" "chinese" "IV4" "00399758" "" "" "" "1" "" "00000" "{PMID:LI 2018:29400105}" "" "M" "" "China" "" "0" "" "" "chinese" "IV18" "00399759" "" "" "" "1" "" "00000" "{PMID:LI 2018:29400105}" "" "F" "" "China" "" "0" "" "" "chinese" "IV12" "00399760" "" "" "" "1" "" "00000" "{PMID:LI 2018:29400105}" "" "M" "" "China" "" "0" "" "" "chinese" "IV13" "00399761" "" "" "" "1" "" "00000" "{PMID:LI 2018:29400105}" "" "F" "" "China" "" "0" "" "" "chinese" "IV16" "00399762" "" "" "" "1" "" "00000" "{PMID:LI 2018:29400105}" "" "F" "" "China" "" "0" "" "" "chinese" "IV20" "00399763" "" "" "" "1" "" "00000" "{PMID:LI 2018:29400105}" "" "F" "" "China" "" "0" "" "" "chinese" "IV21" "00399764" "" "" "" "1" "" "00000" "{PMID:LI 2018:29400105}" "" "M" "" "China" "" "0" "" "" "chinese" "IV22" "00399765" "" "" "" "1" "" "00000" "{PMID:LI 2018:29400105}" "" "M" "" "China" "" "0" "" "" "chinese" "IV29" "00399766" "" "" "" "1" "" "00000" "{PMID:LI 2018:29400105}" "" "M" "" "China" "" "0" "" "" "chinese" "IV30" "00399767" "" "" "" "1" "" "00000" "{PMID:LI 2018:29400105}" "" "M" "" "China" "" "0" "" "" "chinese" "V1" "00399768" "" "" "" "1" "" "00000" "{PMID:LI 2018:29400105}" "" "F" "" "China" "" "0" "" "" "chinese" "V2" "00399769" "" "" "" "1" "" "00000" "{PMID:LI 2018:29400105}" "" "M" "" "China" "" "0" "" "" "chinese" "V9" "00399770" "" "" "" "1" "" "00000" "{PMID:LI 2018:29400105}" "" "M" "" "China" "" "0" "" "" "chinese" "V13" "00399771" "" "" "" "1" "" "00000" "{PMID:LI 2018:29400105}" "" "M" "" "China" "" "0" "" "" "chinese" "VI1" "00399772" "" "" "" "1" "" "00000" "{PMID:LI 2018:29400105}" "" "F" "" "China" "" "0" "" "" "chinese" "III4" "00401574" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "One affected sister" "M" "" "" "" "0" "" "" "" "1744338" "00401575" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "One affected brother" "F" "" "" "" "0" "" "" "" "1744335" "00401576" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "Two affected brothers" "M" "" "" "" "0" "" "" "" "CIC00417" "00401577" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "Two affected brothers" "M" "" "" "" "0" "" "" "" "CIC00418" "00401578" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "simplex case" "F" "" "" "" "0" "" "" "French" "CIC03222" "00401579" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "simplex case" "F" "" "" "" "0" "" "" "French" "1366491" "00401580" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "affected brother" "F" "yes" "" "" "0" "" "" "Tunisian" "CIC06518" "00401581" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "multiple affected subjects" "F" "" "" "" "0" "" "" "French" "CIC7493" "00401582" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "multiple affected subjects" "M" "" "" "" "0" "" "" "French" "CIC08086" "00401583" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "multiple affected subjects" "F" "" "" "" "0" "" "" "French" "CIC08100" "00401584" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "multiple affected subjects" "F" "" "" "" "0" "" "" "French" "CIC07979" "00401585" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "One affected brother and one affected daughter" "M" "" "" "" "0" "" "" "Father- French/ Mother-Sweden" "CIC04452" "00401586" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "simplex case" "M" "" "" "" "0" "" "" "French" "CIC02640" "00401587" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "" "F" "" "" "" "0" "" "" "" "1571135" "00401588" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "Two affected sisters" "F" "" "" "" "0" "" "" "" "CIC02732" "00401589" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "Two affected sisters" "F" "" "" "" "0" "" "" "" "CIC02730" "00401590" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "Two affected sisters" "F" "" "" "" "0" "" "" "Sephardic Jewish" "CIC02729" "00401591" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "" "F" "yes" "" "" "0" "" "" "Moroccan" "CIC08192" "00401592" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "Simplex case" "M" "yes" "" "" "0" "" "" "" "CIC04179" "00401593" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "One affected sister" "M" "" "" "" "0" "" "" "" "CIC04838" "00401594" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "One affected brother" "F" "" "" "" "0" "" "" "" "CIC04837" "00401595" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "one affected sister" "M" "" "" "" "0" "" "" "North African" "CIC3672" "00401596" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "Simplex case" "M" "" "" "" "0" "" "" "" "CIC00309" "00401597" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "one affected sister" "M" "" "" "" "0" "" "" "French" "CIC08846" "00401598" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "one affected brother" "F" "" "" "" "0" "" "" "French" "CIC06731" "00401599" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "one affected brother" "F" "" "" "" "0" "" "" "French" "CIC00072" "00401600" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "one affected sister" "M" "" "" "" "0" "" "" "French" "CIC00071" "00401601" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "Simplex case" "M" "" "" "" "0" "" "" "" "1746244" "00401602" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "simplex case" "F" "" "" "" "0" "" "" "French" "1027955" "00401603" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "" "M" "" "" "" "0" "" "" "" "1373446" "00401604" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "Simplex case" "F" "" "" "" "0" "" "" "Austrian" "1597918" "00401605" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "one affected brother" "F" "" "" "" "0" "" "" "French" "CIC06471" "00401606" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "simplex case" "F" "" "" "" "0" "" "" "French" "CIC06286" "00401607" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "one affected sister" "M" "" "" "" "0" "" "" "Burkinabé" "CIC06529" "00401608" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "simplex case" "F" "" "" "" "0" "" "" "French" "1617688" "00401609" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "Simplex case" "F" "yes" "" "" "0" "" "" "" "CIC08982" "00401610" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "Simplex case" "M" "yes" "" "" "0" "" "" "" "CIC07578" "00401611" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "Two affected sisters" "M" "" "" "" "0" "" "" "Malian" "CIC07986" "00401612" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "adopted" "M" "" "" "" "0" "" "" "Latin American" "CIC07648" "00401613" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "Simplex case" "F" "" "" "" "0" "" "" "" "CIC08509" "00401614" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "simplex case" "M" "" "" "" "0" "" "" "Father French and mother Algerian" "CIC06833" "00401615" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "simplex case" "M" "" "" "" "0" "" "" "Portuguese" "CIC05644" "00401616" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "Two affected brothers" "M" "" "" "" "0" "" "" "" "CIC01199" "00401617" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "one affected brother" "F" "" "" "" "0" "" "" "Algerian" "CIC08844" "00401618" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "simplex case" "F" "yes" "" "" "0" "" "" "German" "CIC08356" "00401619" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "one affected brother" "M" "yes" "" "" "0" "" "" "Algerian" "CIC08294" "00401620" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "one affected brother" "F" "" "" "" "0" "" "" "Father French and Mother Sweden" "CIC04290" "00401621" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "one affected daughter" "M" "yes" "" "" "0" "" "" "Father Moroccan and mother French" "CIC07289" "00401622" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "simplex case" "M" "" "" "" "0" "" "" "French" "CIC04820" "00401623" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "simplex case" "F" "" "" "" "0" "" "" "Portuguese" "CIC03079" "00401624" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "simplex case" "M" "" "" "" "0" "" "" "French" "CIC05503" "00401625" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "one affected brother" "F" "yes" "" "" "0" "" "" "Moroccan" "1711460" "00401626" "" "" "" "1" "" "00000" "{PMID:Khateb 2020:31479088}" "one affected sister" "M" "yes" "" "" "0" "" "" "Moroccan" "1711458" "00401627" "" "" "" "1" "" "00000" "{PMID:Li 2019:30826590}" "heterozygous healthy parents" "F" "no" "China" "" "0" "" "" "Chinese" "G1-II1" "00401628" "" "" "" "1" "" "00000" "{PMID:Li 2019:30826590}" "heterozygous healthy parents" "F" "no" "China" "" "0" "" "" "Chinese" "G2-II1" "00401629" "" "" "" "1" "" "00000" "{PMID:Ramzan 2018:29605349}" "" "M" "?" "" "" "0" "" "" "Saudí" "F-HD258,P-II:1" "00401630" "" "" "" "1" "" "00000" "{PMID:Ramzan 2018:29605349}" "patient\'s cousin II:1" "F" "?" "" "" "0" "" "" "Saudí" "F-HD258-II:3" "00401631" "" "" "" "1" "" "00000" "{PMID:Cheng 2017:29416772}" "Proband" "M" "?" "China" "" "0" "" "" "Chinese" "III:3" "00401632" "" "" "" "1" "" "00000" "{PMID:Cheng 2017:29416772}" "older brother of III:3" "M" "?" "China" "" "0" "" "" "Chinese" "III:4" "00401634" "" "" "" "2" "" "00000" "{PMID:Mei 2021:33976695}" "4-generation family, affected sister/brother (F, M), unaffected heterozygous carrier parents" "F" "yes" "Pakistan" "" "0" "" "" "Rajanpur" "PK-DD-RP-01PatIV4" "00402011" "" "" "" "1" "" "02551" "" "" "F" "" "" "" "0" "" "" "" "" "00403189" "" "" "" "12" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403190" "" "" "" "8" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403191" "" "" "" "12" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403192" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403193" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403194" "" "" "" "8" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403195" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403196" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403197" "" "" "" "8" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403198" "" "" "" "8" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403199" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403200" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403201" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403202" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403203" "" "" "" "8" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403204" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403205" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403206" "" "" "" "8" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403207" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403208" "" "" "" "8" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403209" "" "" "" "12" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403210" "" "" "" "8" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403211" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403212" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403213" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403214" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403215" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403216" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403217" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403218" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403219" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403220" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403221" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403222" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403223" "" "" "" "8" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403224" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403225" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403226" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403227" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403228" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403229" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403230" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403231" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403232" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403233" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403234" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403235" "" "" "" "4" "" "00000" "{PMID:Galbis-Martinez-2021:33576163}" "" "" "" "" "" "0" "" "" "" "" "00403236" "" "" "" "1" "" "00000" "{PMID:Maia-2020:33363762}" "" "M" "yes" "" "" "0" "" "" "" "" "00403284" "" "" "" "1" "" "00000" "{PMID:Frustaci-2021:33835720}" "" "M" "" "(Italy)" "" "0" "" "" "" "" "00415268" "" "" "" "1" "" "00000" "{PMID:Alfares 2018:30202406}" "" "F" "" "" "" "0" "" "" "" "23" "00420415" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F034" "00420567" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F278" "00426944" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 48, individual 57" "F" "" "" "" "0" "" "" "" "48_57" "00427685" "" "" "" "2" "" "00006" "{PMID:Lin 2022:36484953}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "F;M" "yes" "China" "" "0" "" "" "" "FamPatII12/3" "00430927" "" "" "" "1" "" "04091" "{PMID:Velde 2022:35226187}, {DOI:Velde 2022: 10.1007/s00439-022-02441-0}" "" "M" "" "Ireland" "" "0" "" "" "white" "PatD" "00430931" "" "" "" "1" "" "04091" "{DOI:Reurink 2023:10.1016/j.xhgg.2023.100181}" "" "" "" "" "" "0" "" "" "" "USH25" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1385 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00003005" "00198" "00034514" "04210" "00059026" "02352" "00059158" "00531" "00059166" "00531" "00059167" "00531" "00059168" "00531" "00059169" "00531" "00059170" "00531" "00059171" "00531" "00059172" "00531" "00059173" "00531" "00059174" "00531" "00060231" "02283" "00060232" "02283" "00060237" "02283" "00060238" "02283" "00060289" "02283" "00060290" "02283" "00060291" "02283" "00060293" "00000" "00080002" "05103" "00080006" "05103" "00080011" "05103" "00080029" "05103" "00080044" "05103" "00080054" "05103" "00080138" "05103" "00080830" "02115" "00080904" "02115" "00155497" "02115" "00155498" "02115" "00155499" "02115" "00155500" "02115" "00155501" "02115" "00155502" "02115" "00155503" "02115" "00155504" "02115" "00155505" "02115" "00165703" "02115" "00166516" "04214" "00166518" "02115" "00166519" "02115" "00166520" "02115" "00166591" "05414" "00166595" "05414" "00166596" "05414" "00166597" "02115" "00166598" "05414" "00166599" "05414" "00166600" "02115" "00166601" "05414" "00166602" "05459" "00166606" "05414" "00166607" "05414" "00166608" "02115" "00166609" "02115" "00166611" "02115" "00166612" "05459" "00166614" "02115" "00166616" "02115" "00166617" "02115" "00166619" "05414" "00166620" "02115" "00166621" "05414" "00166624" "05415" "00166625" "02115" "00166626" "02115" "00166627" "02115" "00166628" "02115" "00166629" "05414" "00166631" "05415" "00166632" "05414" "00166633" "05414" "00166634" "02115" "00166636" "02115" "00166638" "05414" "00166640" "02115" "00166641" "05414" "00166647" "02115" "00166648" "05414" "00166650" "05414" "00166652" "05414" "00166653" "05414" "00166654" "05414" "00166657" "05414" "00166658" "05415" "00166659" "05414" "00166662" "02115" "00166663" "02115" "00166666" "05414" "00166667" "02115" "00166668" "02115" "00166669" "05414" "00166670" "05414" "00166672" "05414" "00166674" "05414" "00166675" "05414" "00166676" "05414" "00166677" "05414" "00166680" "05414" "00166684" "05414" "00166688" "05414" "00166689" "05414" "00166691" "05414" "00166693" "05414" "00166694" "02115" "00166695" "05414" "00166696" "02115" "00166697" "05414" "00166698" "05414" "00166699" "05414" "00166702" "05414" "00166705" "05414" "00166706" "02115" "00166708" "02115" "00166709" "05414" "00166712" "05414" "00166714" "05414" "00166716" "05414" "00166717" "02115" "00166718" "05414" "00166719" "02115" "00166720" "05415" "00166722" "05414" "00166723" "04211" "00166725" "05414" "00166729" "02115" "00166732" "02115" "00166733" "05414" "00166734" "05414" "00166735" "05415" "00166737" "05414" "00166742" "05414" "00166744" "05414" "00166745" "02115" "00166747" "05414" "00166748" "02115" "00166750" "05414" "00166751" "02115" "00166752" "02115" "00166753" "02115" "00166757" "02115" "00166758" "02115" "00167055" "02115" "00167123" "02115" "00167130" "02115" "00167137" "05414" "00167149" "02115" "00167296" "02115" "00167297" "02115" "00167306" "02115" "00167441" "05414" "00167442" "02115" "00167443" "02115" "00167662" "02115" "00167663" "05414" "00167671" "02115" "00167681" "02115" "00167683" "02115" "00167684" "02115" "00167691" "02115" "00167774" "02115" "00168035" "02115" "00168118" "05460" "00168119" "05460" "00168120" "05460" "00168121" "05460" "00168122" "05460" "00168123" "00350" "00168124" "00350" "00168125" "00350" "00168126" "00350" "00168127" "00350" "00168128" "00350" "00168129" "00350" "00168130" "00350" "00168131" "00350" "00168132" "00350" "00168133" "00350" "00168134" "05460" "00168135" "05460" "00168136" "05460" "00168137" "05460" "00168138" "05460" "00168139" "05460" "00168140" "05415" "00168141" "05460" "00168142" "05460" "00168143" "05460" "00168144" "05460" "00168145" "05460" "00168146" "05460" "00168147" "05460" "00168148" "05460" "00168149" "05460" "00168150" "05460" "00168151" "05460" "00168152" "05460" "00168153" "05460" "00168154" "05460" "00168155" "05460" "00168156" "05460" "00168157" "05460" "00168158" "05460" "00168159" "05460" "00168160" "05460" "00168161" "05460" "00168162" "05460" "00168163" "05460" "00168164" "05460" "00168165" "05460" "00168166" "05460" "00168167" "05460" "00168168" "05460" "00168169" "05460" "00168170" "05460" "00168171" "05460" "00168172" "05460" "00168173" "05460" "00168174" "05460" "00168175" "05460" "00168176" "05460" "00168177" "05460" "00168178" "05460" "00168179" "05460" "00168180" "05460" "00168181" "05460" "00168182" "05460" "00168183" "05460" "00168184" "05460" "00168185" "05460" "00168186" "05460" "00168187" "05460" "00168188" "05460" "00168189" "05460" "00168190" "05460" "00168191" "05460" "00168192" "05460" "00168193" "05460" "00168194" "05460" "00168195" "05460" "00168196" "05460" "00168197" "05460" "00168198" "05460" "00168199" "05460" "00168200" "05460" "00168201" "05460" "00168202" "05460" "00168203" "05460" "00168204" "05460" "00168205" "05460" "00168206" "05460" "00168207" "05460" "00168208" "05460" "00168209" "05460" "00168210" "00350" "00168211" "00350" "00168212" "00350" "00168213" "00350" "00168214" "00350" "00168215" "00350" "00168216" "00350" "00168217" "00350" "00168218" "00350" "00168219" "00350" "00168220" "00350" "00168221" "05460" "00168222" "05460" "00168223" "05460" "00168224" "05460" "00168225" "05460" "00168226" "05460" "00168227" "05460" "00168228" "05460" "00168229" "05460" "00168230" "05460" "00168231" "05460" "00168232" "05460" "00168233" "05460" "00168234" "05460" "00168235" "05460" "00168236" "05460" "00168237" "00350" "00168238" "00350" "00168239" "00350" "00168240" "00350" "00168241" "00350" "00168242" "00350" "00168243" "00350" "00168244" "00350" "00168245" "05460" "00168246" "05460" "00168247" "05460" "00168248" "05460" "00168249" "05460" "00168250" "05460" "00168251" "05460" "00168252" "05460" "00168253" "05460" "00168254" "05460" "00168255" "05460" "00168256" "05460" "00168257" "05460" "00168258" "05460" "00168259" "05460" "00168260" "05460" "00168261" "05460" "00168262" "05460" "00168263" "05460" "00168264" "05460" "00168265" "05460" "00168266" "05460" "00168267" "05460" "00168268" "05460" "00168269" "05460" "00168270" "05460" "00168271" "05460" "00168272" "05460" "00168273" "05460" "00168274" "05460" "00168275" "05460" "00168276" "05460" "00168277" "05460" "00168278" "05460" "00168279" "05460" "00168280" "05460" "00168281" "05460" "00168282" "05460" "00168283" "05460" "00168284" "05460" "00168285" "05460" "00168286" "05460" "00168287" "05460" "00168288" "00350" "00168289" "00350" "00168290" "00350" "00168291" "00350" "00168292" "00350" "00168293" "00350" "00168294" "00350" "00168295" "00350" "00168296" "00350" "00168297" "05460" "00168298" "05460" "00168299" "05460" "00168300" "05460" "00168301" "05400" "00168302" "05460" "00168303" "05460" "00168304" "05460" "00168305" "05460" "00168306" "05460" "00168307" "05460" "00168308" "05460" "00168309" "05460" "00168310" "05460" "00168311" "05460" "00168312" "05460" "00168313" "05460" "00168314" "05460" "00168315" "05460" "00168316" "05460" "00168317" "05460" "00168318" "05460" "00168319" "05460" "00168320" "05460" "00168321" "05460" "00168322" "05460" "00168323" "05460" "00168324" "05460" "00168325" "05460" "00168326" "05460" "00168327" "05460" "00168328" "05460" "00168329" "05460" "00168330" "05460" "00168331" "05460" "00168332" "05460" "00168333" "05414" "00168334" "05460" "00168335" "05460" "00168336" "05460" "00168337" "05460" "00168338" "05460" "00168339" "05460" "00168340" "05460" "00168341" "05460" "00168342" "05460" "00168343" "05460" "00168344" "05460" "00168345" "05460" "00168346" "05460" "00168347" "05460" "00168348" "05460" "00168349" "05460" "00168350" "05460" "00168351" "05460" "00168352" "00198" "00168353" "00198" "00168354" "00198" "00168355" "00198" "00168356" "00198" "00168357" "00198" "00168358" "00198" "00168359" "00198" "00168360" "00198" "00168361" "00198" "00168362" "00198" "00168363" "00198" "00168364" "00198" "00168365" "00198" "00168366" "00198" "00168367" "00198" "00168368" "00198" "00168369" "00198" "00168370" "00198" "00168371" "00198" "00168372" "00198" "00168373" "00198" "00168374" "00198" "00168375" "00198" "00168376" "00198" "00168377" "05460" "00168378" "05460" "00168379" "05460" "00168380" "05460" "00168381" "00198" "00168382" "00198" "00168383" "05460" "00168384" "05460" "00168385" "05460" "00168386" "05460" "00168387" "05460" "00168388" "05460" "00168389" "05460" "00168390" "05460" "00168391" "05460" "00168392" "05460" "00168393" "05460" "00168394" "05460" "00168395" "05400" "00168396" "05400" "00168397" "05400" "00168398" "05400" "00168399" "05400" "00168400" "05460" "00168401" "05460" "00168402" "05460" "00168403" "05460" "00168404" "05460" "00168405" "05460" "00168406" "05460" "00168407" "05460" "00168408" "05460" "00168409" "05460" "00168410" "05460" "00168411" "05460" "00168412" "05460" "00168413" "05460" "00168414" "05460" "00168415" "05400" "00168416" "05400" "00168417" "05400" "00168418" "05460" "00168419" "05460" "00168420" "05460" "00168421" "05460" "00168422" "05460" "00168423" "05460" "00168424" "05460" "00168425" "05460" "00168426" "05460" "00168427" "05460" "00168428" "05460" "00168429" "05460" "00168430" "05460" "00168431" "05460" "00168432" "05460" "00168433" "05460" "00168434" "05460" "00168435" "05460" "00168436" "05460" "00168437" "05460" "00168438" "05460" "00168439" "05460" "00168440" "05460" "00168441" "05460" "00168442" "05460" "00168443" "05460" "00168444" "00350" "00168445" "00350" "00168446" "05460" "00168447" "05460" "00168448" "05460" "00168449" "05460" "00168450" "05460" "00168451" "05460" "00168452" "05460" "00168453" "05400" "00168454" "05400" "00168455" "05400" "00168456" "05400" "00168457" "05400" "00168458" "05400" "00168459" "05460" "00168460" "05460" "00168461" "05460" "00168462" "05460" "00168463" "05460" "00168464" "05460" "00168465" "05460" "00168466" "05460" "00168467" "05460" "00168468" "05460" "00168469" "05460" "00168470" "05460" "00168471" "05460" "00168472" "05460" "00168473" "05460" "00168474" "05460" "00168475" "05460" "00168476" "05460" "00168477" "05460" "00168478" "05460" "00168479" "05460" "00168480" "05460" "00168481" "05460" "00168482" "05460" "00168483" "05460" "00168484" "05460" "00168485" "05460" "00168486" "05460" "00168487" "05460" "00168488" "05460" "00168490" "05460" "00168491" "05460" "00168492" "05460" "00168493" "05460" "00168494" "05460" "00168495" "05460" "00168496" "05460" "00168497" "05400" "00168498" "05460" "00168499" "05460" "00168500" "05460" "00168501" "05460" "00168502" "05460" "00168503" "05460" "00168506" "05460" "00168507" "05460" "00168508" "05460" "00168509" "05460" "00168510" "05460" "00168511" "05460" "00168515" "05460" "00168516" "05460" "00168517" "00000" "00168640" "05460" "00168641" "05460" "00168642" "00198" "00168646" "05460" "00168647" "05460" "00168648" "05460" "00168649" "05460" "00168650" "05460" "00168651" "05460" "00168652" "05460" "00168653" "05460" "00168654" "05460" "00168655" "05460" "00168656" "05460" "00168658" "05400" "00168659" "05460" "00168660" "05400" "00168661" "05400" "00168662" "05460" "00168663" "05460" "00168665" "05460" "00168667" "05460" "00168668" "00350" "00168669" "00350" "00168670" "00350" "00168671" "00350" "00168672" "00350" "00168673" "05400" "00168674" "05400" "00168675" "05400" "00168676" "05400" "00168677" "05400" "00168678" "05400" "00168681" "05460" "00168682" "05460" "00168683" "05460" "00168684" "05460" "00168685" "05460" "00168686" "05460" "00168687" "05460" "00168688" "05460" "00168689" "05460" "00168690" "05460" "00168691" "05414" "00168692" "05414" "00168693" "05414" "00168694" "05414" "00168696" "05414" "00168697" "05414" "00168698" "05460" "00168699" "05460" "00168700" "05414" "00168701" "05414" "00168702" "05414" "00168703" "05414" "00168704" "05103" "00168705" "05414" "00168706" "05414" "00168710" "05460" "00168711" "05460" "00168712" "05460" "00168713" "04211" "00168714" "04211" "00168715" "05414" "00168716" "05414" "00168717" "05414" "00168718" "05414" "00168719" "05460" "00168720" "05460" "00168721" "05460" "00168722" "05460" "00168723" "05460" "00168724" "05460" "00168725" "05460" "00168726" "05400" "00168728" "05460" "00168729" "00198" "00168730" "05458" "00168731" "05458" "00168732" "05460" "00168733" "05460" "00168734" "05460" "00168735" "05400" "00168740" "05460" "00168741" "05460" "00168742" "05460" "00168743" "05460" "00168744" "05460" "00168745" "05400" "00168746" "05400" "00168747" "05400" "00168748" "05400" "00168749" "05460" "00168750" "05460" "00168751" "05460" "00168752" "05460" "00168753" "05460" "00168754" "05460" "00168755" "05460" "00168756" "05460" "00168757" "05400" "00168758" "05460" "00168759" "05460" "00168760" "05460" "00168761" "05460" "00168762" "05460" "00168763" "05460" "00168764" "05460" "00168765" "05400" "00168766" "05400" "00168767" "05400" "00168768" "05414" "00168769" "05460" "00168770" "05460" "00168771" "05460" "00168772" "05414" "00168773" "05460" "00168774" "05460" "00168775" "05460" "00168776" "05460" "00168777" "05460" "00168778" "05414" "00168779" "05414" "00168780" "05414" "00168781" "05414" "00168782" "05460" "00168783" "05460" "00168784" "05460" "00168785" "05460" "00168786" "05460" "00168787" "05460" "00168788" "05460" "00168789" "05460" "00168790" "05460" "00168791" "05460" "00168792" "05460" "00168793" "05460" "00168794" "05460" "00168795" "05414" "00168796" "05460" "00168797" "05460" "00168798" "05460" "00168799" "05460" "00168800" "05460" "00168801" "05460" "00168802" "05460" "00168803" "05460" "00168804" "05414" "00168805" "05414" "00168806" "05414" "00168807" "05414" "00168808" "05414" "00168809" "05414" "00168810" "05414" "00168811" "05414" "00168812" "05460" "00168813" "05460" "00168814" "05460" "00168815" "05460" "00168816" "05460" "00168817" "05460" "00168818" "05460" "00168819" "05460" "00168820" "05460" "00168821" "05460" "00168822" "05460" "00168823" "05460" "00168824" "05460" "00168825" "05460" "00168826" "05460" "00168827" "05460" "00168828" "05460" "00168829" "05460" "00168830" "05460" "00168831" "05460" "00168832" "05460" "00168833" "05460" "00168834" "05460" "00168835" "05460" "00168836" "05460" "00168837" "05460" "00168838" "05460" "00168839" "05460" "00168840" "05460" "00168841" "05460" "00168842" "05460" "00168843" "05460" "00168844" "05460" "00168845" "05460" "00168846" "05460" "00168847" "05460" "00168848" "05460" "00168849" "05460" "00168850" "05460" "00168851" "05460" "00168852" "05460" "00168853" "05460" "00168854" "05460" "00168855" "05460" "00168856" "05460" "00168857" "05460" "00168858" "05460" "00168859" "05460" "00168860" "05460" "00168861" "05460" "00168862" "05460" "00168863" "05460" "00168864" "05460" "00168865" "05460" "00168866" "05460" "00168867" "05460" "00168868" "05460" "00168869" "05460" "00168870" "05460" "00168871" "05460" "00168872" "05460" "00168873" "05460" "00168874" "05460" "00168875" "05460" "00168876" "05460" "00168877" "05460" "00168878" "05460" "00168879" "05460" "00168880" "05460" "00168881" "05460" "00168882" "05460" "00168883" "05460" "00168884" "05460" "00168885" "05460" "00168886" "05460" "00168887" "05460" "00168888" "05460" "00168889" "05460" "00168890" "05460" "00168891" "05460" "00168892" "05460" "00168893" "05460" "00168894" "05460" "00168895" "05460" "00168896" "05460" "00168897" "05460" "00168898" "05460" "00168899" "05460" "00168900" "05460" "00168901" "05460" "00168902" "05460" "00168903" "05460" "00168904" "05460" "00168905" "05460" "00168906" "05460" "00168907" "05460" "00168908" "05460" "00168909" "05460" "00168910" "05460" "00168911" "05460" "00168912" "05460" "00168913" "05460" "00168914" "05460" "00168915" "05460" "00168916" "05460" "00168917" "05460" "00168918" "05460" "00168919" "05460" "00168920" "05460" "00168921" "05460" "00168922" "05460" "00168923" "05460" "00168924" "05460" "00168925" "05460" "00168926" "05460" "00168927" "05460" "00168928" "05460" "00168929" "05400" "00168930" "05400" "00168931" "05400" "00168932" "05400" "00168933" "05400" "00168934" "05460" "00168935" "05460" "00168936" "05460" "00168937" "05460" "00168938" "05460" "00168939" "05460" "00168940" "05460" "00240449" "00381" "00263969" "00198" "00275693" "05460" "00276088" "04214" "00290535" "00198" "00290536" "00198" "00290537" "00198" "00290538" "00198" "00290539" "00198" "00290540" "00198" "00290541" "00198" "00290542" "00198" "00290543" "00198" "00290544" "00198" "00290545" "00198" "00290547" "00198" "00295132" "00198" "00295255" "00198" "00299640" "04214" "00304321" "00198" "00304322" "00198" "00306911" "05086" "00307310" "00198" "00308522" "04214" "00308523" "04214" "00308616" "04214" "00309225" "04214" "00309226" "04214" "00309227" "04214" "00309228" "04214" "00309229" "04214" "00309230" "04214" "00309231" "04214" "00309232" "04214" "00309233" "04214" "00309234" "04214" "00309235" "04214" "00309236" "04214" "00309237" "04214" "00309238" "04214" "00309239" "04214" "00309556" "04214" "00309569" "04214" "00309570" "04214" "00309575" "04214" "00309576" "04214" "00309584" "04214" "00309586" "04214" "00309587" "04214" "00309588" "04214" "00309604" "04214" "00309611" "04214" "00309863" "05086" "00314769" "05086" "00314770" "05086" "00314771" "05086" "00324398" "00198" "00325480" "04214" "00327384" "00350" "00327990" "04214" "00327992" "04214" "00327993" "04214" "00327995" "04214" "00327996" "04214" "00328076" "04214" "00328121" "04214" "00328164" "04214" "00328508" "04214" "00331306" "05086" "00331605" "05086" "00331606" "05086" "00331607" "05086" "00331608" "05086" "00331609" "05086" "00331610" "05086" "00331611" "05086" "00331612" "05086" "00331613" "05086" "00331614" "05086" "00331622" "05086" "00331623" "05086" "00331624" "05086" "00331629" "05086" "00331630" "05086" "00331631" "05086" "00331700" "05086" "00331707" "05086" "00332433" "04214" "00332434" "04214" "00332438" "04214" "00332443" "04214" "00332444" "04214" "00332499" "04214" "00333428" "04214" "00333647" "04214" "00333849" "04214" "00334007" "04214" "00334008" "04214" "00334009" "04214" "00334010" "04214" "00334011" "04214" "00334012" "04214" "00335249" "04214" "00335277" "04214" "00335841" "04214" "00335842" "04214" "00335843" "04214" "00335844" "04214" "00335845" "04214" "00335846" "04214" "00335850" "04214" "00335851" "04214" "00335853" "04214" "00335855" "04214" "00335860" "04214" "00335861" "04214" "00335862" "04214" "00335863" "04214" "00335864" "04214" "00335865" "04214" "00335866" "04214" "00335867" "04214" "00335980" "04214" "00358826" "04214" "00358827" "04214" "00359079" "04214" "00359244" "04214" "00359248" "04214" "00359252" "04214" "00359258" "04214" "00361770" "05460" "00361775" "05460" "00361778" "05460" "00361779" "05460" "00361780" "05460" "00361781" "05460" "00361782" "02115" "00361783" "05460" "00361784" "05460" "00361785" "05460" "00361786" "05460" "00361787" "05460" "00361788" "05460" "00363194" "05415" "00363195" "05415" "00363196" "05415" "00363197" "05415" "00363198" "05415" "00363199" "05415" "00363200" "05415" "00363201" "05415" "00363202" "05415" "00363203" "05415" "00363204" "05415" "00363205" "05415" "00363206" "05415" "00363207" "05415" "00363208" "05415" "00363209" "05415" "00363210" "05415" "00363211" "05415" "00363212" "05415" "00363213" "05415" "00363214" "05415" "00363215" "05415" "00363233" "05415" "00363234" "05415" "00363235" "05415" "00363236" "05415" "00363237" "05415" "00363681" "04214" "00372515" "05086" "00372519" "04214" "00372681" "04214" "00373401" "05103" "00373404" "05103" "00373818" "04214" "00373844" "04214" "00374000" "05415" "00374001" "05415" "00374002" "05415" "00375266" "05415" "00375351" "04214" "00375433" "04214" "00379779" "05415" "00379846" "04214" "00379847" "04214" "00380145" "04214" "00380207" "04214" "00380212" "04214" "00380213" "04214" "00380833" "05415" "00382565" "04214" "00382566" "04214" "00382567" "04214" "00382568" "04214" "00382569" "04214" "00383592" "04214" "00383594" "04214" "00383596" "04214" "00383600" "04214" "00383609" "04214" "00383611" "04214" "00384227" "04214" "00384228" "04214" "00384635" "00198" "00385149" "04214" "00386878" "04214" "00386883" "04214" "00386890" "04214" "00386958" "05981" "00386961" "05981" "00386963" "05981" "00386964" "05981" "00386966" "05981" "00386967" "05981" "00386971" "05981" "00386972" "05981" "00387111" "04214" "00387112" "04214" "00387113" "04214" "00387114" "04214" "00387115" "04214" "00387144" "05981" "00387148" "05981" "00387165" "05981" "00387168" "05981" "00387178" "05981" "00387180" "05981" "00387188" "05981" "00387191" "05981" "00387193" "05981" "00387198" "05981" "00387201" "05981" "00387202" "05981" "00387210" "05981" "00387213" "05981" "00387219" "05981" "00387220" "05981" "00387225" "05981" "00387226" "05981" "00387230" "05981" "00387232" "05981" "00387235" "02116" "00387237" "05981" "00387239" "05981" "00387240" "05981" "00387241" "05981" "00387242" "05981" "00387243" "05981" "00387248" "05981" "00387251" "05981" "00387254" "05981" "00387258" "05981" "00387267" "05981" "00387269" "05981" "00387270" "05981" "00387277" "05981" "00387278" "05981" "00387281" "05981" "00387283" "05981" "00387291" "05981" "00387293" "05981" "00387294" "05981" "00387299" "05981" "00387302" "05981" "00387304" "05981" "00387305" "05981" "00387307" "05981" "00387316" "05981" "00387325" "05981" "00387330" "05981" "00387334" "05981" "00387339" "05981" "00387340" "05981" "00387341" "05981" "00387343" "05981" "00387344" "05981" "00387345" "05981" "00387347" "05981" "00387348" "05981" "00387349" "05981" "00387350" "05981" "00387351" "05981" "00387353" "05981" "00387354" "05981" "00387355" "05981" "00387356" "05981" "00387357" "05981" "00388556" "04214" "00388557" "04214" "00388791" "04214" "00388802" "04214" "00388839" "04214" "00388842" "04214" "00388861" "04214" "00388875" "04214" "00388882" "04214" "00388891" "04214" "00389272" "04214" "00389313" "04214" "00389406" "04214" "00390311" "04214" "00390312" "04214" "00390313" "04214" "00390314" "04214" "00390315" "04214" "00390316" "04214" "00390317" "04214" "00390318" "04214" "00390809" "04214" "00390810" "04214" "00391370" "04214" "00391579" "04214" "00392596" "04214" "00392638" "04214" "00392654" "04214" "00392664" "04214" "00392679" "04214" "00393625" "04214" "00393921" "04214" "00393922" "04214" "00393923" "04214" "00393924" "04214" "00393925" "04214" "00393926" "04214" "00393927" "04214" "00393928" "04214" "00393929" "04214" "00393930" "04214" "00393931" "04214" "00393932" "04214" "00393933" "04214" "00393934" "04214" "00393935" "04214" "00393936" "04214" "00393937" "04214" "00393938" "04214" "00393939" "04214" "00394699" "04214" "00394700" "04214" "00394701" "04214" "00394702" "04214" "00394703" "04214" "00394704" "04214" "00394705" "04214" "00394706" "04214" "00394707" "04214" "00394708" "04214" "00394709" "04214" "00394710" "04214" "00394711" "04214" "00395782" "04214" "00395792" "04214" "00395961" "04214" "00395962" "04214" "00396209" "04214" "00396211" "04214" "00396219" "04214" "00396228" "04214" "00396229" "04214" "00396232" "04214" "00396233" "04214" "00396234" "04214" "00396235" "04214" "00396236" "04214" "00396237" "04214" "00396238" "04214" "00396261" "04214" "00396262" "04214" "00396263" "04214" "00396264" "04214" "00396265" "04214" "00396266" "04214" "00396267" "04214" "00396288" "04214" "00396289" "04214" "00396290" "04214" "00396291" "04214" "00396419" "04214" "00396473" "04214" "00396479" "04214" "00399728" "00000" "00399729" "00000" "00399730" "04214" "00399731" "00000" "00399732" "00000" "00399733" "04214" "00399734" "04214" "00399737" "04214" "00399738" "04214" "00399739" "04214" "00399740" "04214" "00399741" "04214" "00399742" "04214" "00399743" "04214" "00399744" "04214" "00399745" "04214" "00399746" "04214" "00399747" "04214" "00399748" "00000" "00399749" "04214" "00399750" "04214" "00399751" "04214" "00399752" "04214" "00399753" "04214" "00399754" "04214" "00399755" "04214" "00399756" "04214" "00399757" "04214" "00399758" "04214" "00399759" "04214" "00399760" "04214" "00399761" "04214" "00399762" "04214" "00399763" "04214" "00399764" "04214" "00399765" "04214" "00399766" "04214" "00399767" "04214" "00399768" "04214" "00399769" "04214" "00399770" "04214" "00399771" "04214" "00399772" "04214" "00401574" "04214" "00401575" "04214" "00401576" "04214" "00401577" "04214" "00401578" "04214" "00401579" "04214" "00401580" "04214" "00401581" "04214" "00401582" "04214" "00401583" "04214" "00401584" "04214" "00401585" "04214" "00401586" "04214" "00401587" "04214" "00401588" "04214" "00401589" "04214" "00401590" "04214" "00401591" "04214" "00401592" "04214" "00401593" "04214" "00401594" "04214" "00401595" "04214" "00401596" "04214" "00401597" "04214" "00401598" "04214" "00401599" "04214" "00401600" "04214" "00401601" "04214" "00401602" "04214" "00401603" "04214" "00401604" "04214" "00401605" "04214" "00401606" "04214" "00401607" "04214" "00401608" "04214" "00401609" "04214" "00401610" "04214" "00401611" "04214" "00401612" "04214" "00401613" "04214" "00401614" "04214" "00401615" "04214" "00401616" "04214" "00401617" "04214" "00401618" "04214" "00401619" "04214" "00401620" "04214" "00401621" "04214" "00401622" "04214" "00401623" "04214" "00401624" "04214" "00401625" "04214" "00401626" "04214" "00401627" "04214" "00401628" "04214" "00401629" "04214" "00401630" "04214" "00401631" "04214" "00401632" "04214" "00401634" "05103" "00402011" "00198" "00403189" "04214" "00403190" "04214" "00403191" "04214" "00403192" "04214" "00403193" "04214" "00403194" "04214" "00403195" "04214" "00403196" "04214" "00403197" "04214" "00403198" "04214" "00403199" "04214" "00403200" "04214" "00403201" "04214" "00403202" "04214" "00403203" "04214" "00403204" "04214" "00403205" "04214" "00403206" "04214" "00403207" "04214" "00403208" "04214" "00403209" "04214" "00403210" "04214" "00403211" "04214" "00403212" "04214" "00403213" "04214" "00403214" "04214" "00403215" "04214" "00403216" "04214" "00403217" "04214" "00403218" "04214" "00403219" "04214" "00403220" "04214" "00403221" "04214" "00403222" "04214" "00403223" "04214" "00403224" "04214" "00403225" "04214" "00403226" "04214" "00403227" "04214" "00403228" "04214" "00403229" "04214" "00403230" "04214" "00403231" "04214" "00403232" "04214" "00403233" "04214" "00403234" "04214" "00403235" "04214" "00403236" "04214" "00403284" "04214" "00415268" "04214" "00420415" "04214" "00420567" "04214" "00426944" "04214" "00427685" "05415" "00430927" "04214" "00430931" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00350, 00381, 00531, 01157, 02115, 02116, 02283, 02352, 04210, 04211, 04214, 05086, 05103, 05400, 05414, 05415, 05458, 05459, 05460, 05981 ## Count = 1269 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000001856" "00198" "00003005" "00130" "Familial, autosomal dominant" "" "progressive, postlingual hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000027918" "04210" "00034514" "01263" "Familial, autosomal recessive" "" "LCA, poor vision since birth, nystagmus, neuroepithelial atrophy, nonrecordable ERGs; no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000045615" "02352" "00059026" "01542" "Familial, autosomal dominant" "" "postlingual onset, ~5y, profound by age 12; also myopia" "05y?" "" "" "" "" "" "" "" "" "" "" "0000046719" "02283" "00060231" "01542" "Familial, autosomal recessive" "" "Congenital, severe HL" "" "" "" "" "" "" "" "" "" "" "" "0000046720" "02283" "00060232" "01542" "Familial, autosomal recessive" "" "Congenital, moderate HL" "" "" "" "" "" "" "" "" "" "" "" "0000046724" "02283" "00060237" "01542" "Complex" "" "di-genic inheritance; congenital, profound" "" "" "" "" "" "" "" "" "" "" "" "0000046725" "02283" "00060238" "01542" "Familial, autosomal recessive" "" "Congenital profound HL" "" "" "" "" "" "" "" "" "" "" "" "0000046787" "02283" "00060289" "00006" "Familial, autosomal recessive" "" "congenital, NSHL" "" "" "" "" "" "" "" "" "" "" "" "0000046788" "02283" "00060290" "00006" "Familial, autosomal recessive" "" "congenital, NSHL" "" "" "" "" "" "" "" "" "" "" "" "0000046789" "02283" "00060291" "00006" "Familial, autosomal recessive" "" "congenital, NSHL" "" "" "" "" "" "" "" "" "" "" "" "0000060399" "02115" "00080830" "01758" "Familial, autosomal recessive" "" "Usher syndrome, type 1B (OMIM:276900)" "" "" "" "" "" "" "" "" "" "" "" "0000060473" "02115" "00080904" "01758" "Familial, autosomal recessive" "" "Usher syndrome, type 1B (OMIM:276900)" "" "" "" "" "" "" "" "" "" "" "" "0000127997" "02115" "00155497" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000127998" "02115" "00155498" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000127999" "02115" "00155499" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000128000" "02115" "00155500" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000128001" "02115" "00155501" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000128002" "02115" "00155502" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000128003" "02115" "00155503" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000128004" "02115" "00155504" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000128005" "02115" "00155505" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130567" "02115" "00165703" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131380" "04214" "00166516" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "sector retinitis pigmentosa, hearing loss" "" "0000131382" "02115" "00166518" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131383" "02115" "00166519" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131384" "02115" "00166520" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131455" "05414" "00166591" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131459" "05414" "00166595" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131460" "05414" "00166596" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131461" "02115" "00166597" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131462" "05414" "00166598" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131463" "05414" "00166599" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131464" "02115" "00166600" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131465" "05414" "00166601" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131466" "05459" "00166602" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131470" "05414" "00166606" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131471" "05414" "00166607" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131472" "02115" "00166608" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131473" "02115" "00166609" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131475" "02115" "00166611" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131476" "05459" "00166612" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131478" "02115" "00166614" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131480" "02115" "00166616" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131481" "02115" "00166617" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131483" "05414" "00166619" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131484" "02115" "00166620" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131485" "05414" "00166621" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131488" "05415" "00166624" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000131489" "02115" "00166625" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131490" "02115" "00166626" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131491" "02115" "00166627" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131492" "02115" "00166628" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131493" "05414" "00166629" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131495" "05415" "00166631" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000131496" "05414" "00166632" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131497" "05414" "00166633" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131498" "02115" "00166634" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131500" "02115" "00166636" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131502" "05414" "00166638" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131504" "02115" "00166640" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131505" "05414" "00166641" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131511" "02115" "00166647" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131512" "05414" "00166648" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131514" "05414" "00166650" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131516" "05414" "00166652" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131517" "05414" "00166653" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131518" "05414" "00166654" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131521" "05414" "00166657" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131522" "05415" "00166658" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000131523" "05414" "00166659" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131526" "02115" "00166662" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131527" "02115" "00166663" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131530" "05414" "00166666" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131531" "02115" "00166667" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131532" "02115" "00166668" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131533" "05414" "00166669" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131534" "05414" "00166670" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131536" "05414" "00166672" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131538" "05414" "00166674" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131539" "05414" "00166675" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131540" "05414" "00166676" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131541" "05414" "00166677" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131544" "05414" "00166680" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131548" "05414" "00166684" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131552" "05414" "00166688" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131553" "05414" "00166689" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131555" "05414" "00166691" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131557" "05414" "00166693" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131558" "02115" "00166694" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131559" "05414" "00166695" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131560" "02115" "00166696" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131561" "05414" "00166697" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131562" "05414" "00166698" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131563" "05414" "00166699" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131566" "05414" "00166702" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131569" "05414" "00166705" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131570" "02115" "00166706" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131572" "02115" "00166708" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131573" "05414" "00166709" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131576" "05414" "00166712" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131578" "05414" "00166714" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131580" "05414" "00166716" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131581" "02115" "00166717" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131582" "05414" "00166718" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131583" "02115" "00166719" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131584" "05415" "00166720" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000131586" "05414" "00166722" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131587" "04211" "00166723" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131589" "05414" "00166725" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131593" "02115" "00166729" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131596" "02115" "00166732" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131597" "05414" "00166733" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131598" "05414" "00166734" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131599" "05415" "00166735" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000131601" "05414" "00166737" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131606" "05414" "00166742" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131608" "05414" "00166744" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131609" "02115" "00166745" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131611" "05414" "00166747" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131612" "02115" "00166748" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131614" "05414" "00166750" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131615" "02115" "00166751" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131616" "02115" "00166752" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131617" "02115" "00166753" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131621" "02115" "00166757" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131622" "02115" "00166758" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131919" "02115" "00167055" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131987" "02115" "00167123" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131994" "02115" "00167130" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132001" "05414" "00167137" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132013" "02115" "00167149" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132160" "02115" "00167296" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132161" "02115" "00167297" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132170" "02115" "00167306" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132305" "05414" "00167441" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132306" "02115" "00167442" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132307" "02115" "00167443" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132526" "02115" "00167662" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132527" "05414" "00167663" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132535" "02115" "00167671" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132545" "02115" "00167681" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132547" "02115" "00167683" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132548" "02115" "00167684" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132555" "02115" "00167691" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132638" "02115" "00167774" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132899" "02115" "00168035" "02430" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132978" "05460" "00168118" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000132979" "05460" "00168119" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000132980" "05460" "00168120" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000132981" "05460" "00168121" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000132982" "05460" "00168122" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000132983" "00350" "00168123" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000132984" "00350" "00168124" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000132985" "00350" "00168125" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000132986" "00350" "00168126" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000132987" "00350" "00168127" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000132988" "00350" "00168128" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000132989" "00350" "00168129" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000132990" "00350" "00168130" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000132991" "00350" "00168131" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000132992" "00350" "00168132" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000132993" "00350" "00168133" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000132994" "05460" "00168134" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000132995" "05460" "00168135" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000132996" "05460" "00168136" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000132997" "05460" "00168137" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000132998" "05460" "00168138" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000132999" "05460" "00168139" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133001" "05460" "00168141" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133002" "05460" "00168142" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133003" "05460" "00168143" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133004" "05460" "00168144" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133005" "05460" "00168145" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133006" "05460" "00168146" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133007" "05460" "00168147" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133008" "05460" "00168148" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133009" "05460" "00168149" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133010" "05460" "00168150" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133011" "05460" "00168151" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133012" "05460" "00168152" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133013" "05460" "00168153" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133014" "05460" "00168154" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133015" "05460" "00168155" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133016" "05460" "00168156" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133017" "05460" "00168157" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133018" "05460" "00168158" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133019" "05460" "00168159" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133020" "05460" "00168160" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133021" "05460" "00168161" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133022" "05460" "00168162" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133023" "05460" "00168163" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133024" "05460" "00168164" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133025" "05460" "00168165" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133026" "05460" "00168166" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133027" "05460" "00168167" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133028" "05460" "00168168" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133029" "05460" "00168169" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133030" "05460" "00168170" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133031" "05460" "00168171" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133032" "05460" "00168172" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133033" "05460" "00168173" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133034" "05460" "00168174" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133035" "05460" "00168175" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133036" "05460" "00168176" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133037" "05460" "00168177" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133038" "05460" "00168178" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133039" "05460" "00168179" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133040" "05460" "00168180" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133041" "05460" "00168181" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133042" "05460" "00168182" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133043" "05460" "00168183" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133044" "05460" "00168184" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133045" "05460" "00168185" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133046" "05460" "00168186" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133047" "05460" "00168187" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133048" "05460" "00168188" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133049" "05460" "00168189" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133050" "05460" "00168190" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133051" "05460" "00168191" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133052" "05460" "00168192" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133053" "05460" "00168193" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133054" "05460" "00168194" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133055" "05460" "00168195" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133056" "05460" "00168196" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133057" "05460" "00168197" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133058" "05460" "00168198" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133059" "05460" "00168199" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133060" "05460" "00168200" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133061" "05460" "00168201" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133062" "05460" "00168202" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133063" "05460" "00168203" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133064" "05460" "00168204" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133065" "05460" "00168205" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133066" "05460" "00168206" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133067" "05460" "00168207" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133068" "05460" "00168208" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133069" "05460" "00168209" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133070" "00350" "00168210" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133071" "00350" "00168211" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133072" "00350" "00168212" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133073" "00350" "00168213" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133074" "00350" "00168214" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133075" "00350" "00168215" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133076" "00350" "00168216" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133077" "00350" "00168217" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133078" "00350" "00168218" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133079" "00350" "00168219" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133080" "00350" "00168220" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133081" "05460" "00168221" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133082" "05460" "00168222" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133083" "05460" "00168223" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133084" "05460" "00168224" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133085" "05460" "00168225" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133086" "05460" "00168226" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133087" "05460" "00168227" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133088" "05460" "00168228" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133089" "05460" "00168229" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133090" "05460" "00168230" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133091" "05460" "00168231" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133092" "05460" "00168232" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133093" "05460" "00168233" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133094" "05460" "00168234" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133095" "05460" "00168235" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133096" "05460" "00168236" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133097" "00350" "00168237" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133098" "00350" "00168238" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133099" "00350" "00168239" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133100" "00350" "00168240" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133101" "00350" "00168241" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133102" "00350" "00168242" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133103" "00350" "00168243" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133104" "00350" "00168244" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133105" "05460" "00168245" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133106" "05460" "00168246" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133107" "05460" "00168247" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133108" "05460" "00168248" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133109" "05460" "00168249" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133110" "05460" "00168250" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133111" "05460" "00168251" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133112" "05460" "00168252" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133113" "05460" "00168253" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133114" "05460" "00168254" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133115" "05460" "00168255" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133116" "05460" "00168256" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133117" "05460" "00168257" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133118" "05460" "00168258" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133119" "05460" "00168259" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133120" "05460" "00168260" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133121" "05460" "00168261" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133122" "05460" "00168262" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133123" "05460" "00168263" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133124" "05460" "00168264" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133125" "05460" "00168265" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133126" "05460" "00168266" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133127" "05460" "00168267" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133128" "05460" "00168268" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133129" "05460" "00168269" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133130" "05460" "00168270" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133131" "05460" "00168271" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133132" "05460" "00168272" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133133" "05460" "00168273" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133134" "05460" "00168274" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133135" "05460" "00168275" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133136" "05460" "00168276" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133137" "05460" "00168277" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133138" "05460" "00168278" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133139" "05460" "00168279" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133140" "05460" "00168280" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133141" "05460" "00168281" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133142" "05460" "00168282" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133143" "05460" "00168283" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133144" "05460" "00168284" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133145" "05460" "00168285" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133146" "05460" "00168286" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133147" "05460" "00168287" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133148" "00350" "00168288" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133149" "00350" "00168289" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133150" "00350" "00168290" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133151" "00350" "00168291" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133152" "00350" "00168292" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133153" "00350" "00168293" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133154" "00350" "00168294" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133155" "00350" "00168295" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133156" "00350" "00168296" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133157" "05460" "00168297" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133158" "05460" "00168298" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133159" "05460" "00168299" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133160" "05460" "00168300" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133161" "05400" "00168301" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133162" "05460" "00168302" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133163" "05460" "00168303" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133164" "05460" "00168304" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133165" "05460" "00168305" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133166" "05460" "00168306" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133167" "05460" "00168307" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133168" "05460" "00168308" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133169" "05460" "00168309" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133170" "05460" "00168310" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133171" "05460" "00168311" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133172" "05460" "00168312" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133173" "05460" "00168313" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133174" "05460" "00168314" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133175" "05460" "00168315" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133176" "05460" "00168316" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133177" "05460" "00168317" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133178" "05460" "00168318" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133179" "05460" "00168319" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133180" "05460" "00168320" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133181" "05460" "00168321" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133182" "05460" "00168322" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133183" "05460" "00168323" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133184" "05460" "00168324" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133185" "05460" "00168325" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133186" "05460" "00168326" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133187" "05460" "00168327" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133188" "05460" "00168328" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133189" "05460" "00168329" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133190" "05460" "00168330" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133191" "05460" "00168331" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133192" "05460" "00168332" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133193" "05414" "00168333" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133194" "05460" "00168334" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133195" "05460" "00168335" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133196" "05460" "00168336" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133197" "05460" "00168337" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133198" "05460" "00168338" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133199" "05460" "00168339" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133200" "05460" "00168340" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133201" "05460" "00168341" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133202" "05460" "00168342" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133203" "05460" "00168343" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133204" "05460" "00168344" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133205" "05460" "00168345" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133206" "05460" "00168346" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133207" "05460" "00168347" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133208" "05460" "00168348" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133209" "05460" "00168349" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133210" "05460" "00168350" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133211" "05460" "00168351" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133212" "00198" "00168352" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133213" "00198" "00168353" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133214" "00198" "00168354" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133215" "00198" "00168355" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133216" "00198" "00168356" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133217" "00198" "00168357" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133218" "00198" "00168358" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133219" "00198" "00168359" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133220" "00198" "00168360" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133221" "00198" "00168361" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133222" "00198" "00168362" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133223" "00198" "00168363" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133224" "00198" "00168364" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133225" "00198" "00168365" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133226" "00198" "00168366" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133227" "00198" "00168367" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133228" "00198" "00168368" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133229" "00198" "00168369" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133230" "00198" "00168370" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133231" "00198" "00168371" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133232" "00198" "00168372" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133233" "00198" "00168373" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133234" "00198" "00168374" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133235" "00198" "00168375" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133236" "00198" "00168376" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133237" "05460" "00168377" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133238" "05460" "00168378" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133239" "05460" "00168379" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133240" "05460" "00168380" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133241" "00198" "00168381" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133242" "00198" "00168382" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133243" "05460" "00168383" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133244" "05460" "00168384" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133245" "05460" "00168385" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133246" "05460" "00168386" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133247" "05460" "00168387" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133248" "05460" "00168388" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133249" "05460" "00168389" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133250" "05460" "00168390" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133251" "05460" "00168391" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133252" "05460" "00168392" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133253" "05460" "00168393" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133254" "05460" "00168394" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133255" "05400" "00168395" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133256" "05400" "00168396" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133257" "05400" "00168397" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133258" "05400" "00168398" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133259" "05400" "00168399" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133260" "05460" "00168400" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133261" "05460" "00168401" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133262" "05460" "00168402" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133263" "05460" "00168403" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133264" "05460" "00168404" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133265" "05460" "00168405" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133266" "05460" "00168406" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133267" "05460" "00168407" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133268" "05460" "00168408" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133269" "05460" "00168409" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133270" "05460" "00168410" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133271" "05460" "00168411" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133272" "05460" "00168412" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133273" "05460" "00168413" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133274" "05460" "00168414" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133275" "05400" "00168415" "02418" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133276" "05400" "00168416" "02418" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133277" "05400" "00168417" "02418" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133278" "05460" "00168418" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133279" "05460" "00168419" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133280" "05460" "00168420" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133281" "05460" "00168421" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133282" "05460" "00168422" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133283" "05460" "00168423" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133284" "05460" "00168424" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133285" "05460" "00168425" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133286" "05460" "00168426" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133287" "05460" "00168427" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133288" "05460" "00168428" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133289" "05460" "00168429" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133290" "05460" "00168430" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133291" "05460" "00168431" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133292" "05460" "00168432" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133293" "05460" "00168433" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133294" "05460" "00168434" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133295" "05460" "00168435" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133296" "05460" "00168436" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133297" "05460" "00168437" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133298" "05460" "00168438" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133299" "05460" "00168439" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133300" "05460" "00168440" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133301" "05460" "00168441" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133302" "05460" "00168442" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133303" "05460" "00168443" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133304" "00350" "00168444" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133305" "00350" "00168445" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133306" "05460" "00168446" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133307" "05460" "00168447" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133308" "05460" "00168448" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133309" "05460" "00168449" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133310" "05460" "00168450" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133311" "05460" "00168451" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133312" "05460" "00168452" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133313" "05400" "00168453" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133314" "05400" "00168454" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133315" "05400" "00168455" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133316" "05400" "00168456" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133317" "05400" "00168457" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133318" "05400" "00168458" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133319" "05460" "00168459" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133320" "05460" "00168460" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133321" "05460" "00168461" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133322" "05460" "00168462" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133323" "05460" "00168463" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133324" "05460" "00168464" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133325" "05460" "00168465" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133326" "05460" "00168466" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133327" "05460" "00168467" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133328" "05460" "00168468" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133329" "05460" "00168469" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133330" "05460" "00168470" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133331" "05460" "00168471" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133332" "05460" "00168472" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133333" "05460" "00168473" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133334" "05460" "00168474" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133335" "05460" "00168475" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133336" "05460" "00168476" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133337" "05460" "00168477" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133338" "05460" "00168478" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133339" "05460" "00168479" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133340" "05460" "00168480" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133341" "05460" "00168481" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133342" "05460" "00168482" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133343" "05460" "00168483" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133344" "05460" "00168484" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133345" "05460" "00168485" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133346" "05460" "00168486" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133347" "05460" "00168487" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133348" "05460" "00168488" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133350" "05460" "00168490" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133351" "05460" "00168491" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133352" "05460" "00168492" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133353" "05460" "00168493" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133354" "05460" "00168494" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133355" "05460" "00168495" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133356" "05460" "00168496" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133357" "05400" "00168497" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133358" "05460" "00168498" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133359" "05460" "00168499" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133360" "05460" "00168500" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133361" "05460" "00168501" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133362" "05460" "00168502" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133363" "05460" "00168503" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133366" "05460" "00168506" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133367" "05460" "00168507" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133368" "05460" "00168508" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133369" "05460" "00168509" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133370" "05460" "00168510" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133371" "05460" "00168511" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133375" "05460" "00168515" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133376" "05460" "00168516" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133377" "00000" "00168517" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000133500" "05460" "00168640" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133501" "05460" "00168641" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133502" "00198" "00168642" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133506" "05460" "00168646" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133507" "05460" "00168647" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133508" "05460" "00168648" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133509" "05460" "00168649" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133510" "05460" "00168650" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133511" "05460" "00168651" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133512" "05460" "00168652" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133513" "05460" "00168653" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133514" "05460" "00168654" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133515" "05460" "00168655" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133516" "05460" "00168656" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133518" "05400" "00168658" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133519" "05460" "00168659" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133520" "05400" "00168660" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133521" "05400" "00168661" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133522" "05460" "00168662" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133523" "05460" "00168663" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133525" "05460" "00168665" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133527" "05460" "00168667" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133528" "00350" "00168668" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133529" "00350" "00168669" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133530" "00350" "00168670" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133531" "00350" "00168671" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133532" "00350" "00168672" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-11" "autosomal dominant deafness" "" "0000133533" "05400" "00168673" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133534" "05400" "00168674" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133535" "05400" "00168675" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133536" "05400" "00168676" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133537" "05400" "00168677" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133538" "05400" "00168678" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133541" "05460" "00168681" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133542" "05460" "00168682" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133543" "05460" "00168683" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133544" "05460" "00168684" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133545" "05460" "00168685" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133546" "05460" "00168686" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133547" "05460" "00168687" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133548" "05460" "00168688" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133549" "05460" "00168689" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133550" "05460" "00168690" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133551" "05414" "00168691" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133552" "05414" "00168692" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133553" "05414" "00168693" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133554" "05414" "00168694" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133556" "05414" "00168696" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133557" "05414" "00168697" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133558" "05460" "00168698" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133559" "05460" "00168699" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133560" "05414" "00168700" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133561" "05414" "00168701" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133562" "05414" "00168702" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133563" "05414" "00168703" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133564" "05103" "00168704" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "sector retinitis pigmentosa, hearing loss" "" "0000133565" "05414" "00168705" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133566" "05414" "00168706" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133570" "05460" "00168710" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133571" "05460" "00168711" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133572" "05460" "00168712" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133573" "04211" "00168713" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa (ARRP)" "" "0000133574" "04211" "00168714" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa (ARRP)" "" "0000133575" "05414" "00168715" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133576" "05414" "00168716" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133577" "05414" "00168717" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133578" "05414" "00168718" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133579" "05460" "00168719" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133580" "05460" "00168720" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133581" "05460" "00168721" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133582" "05460" "00168722" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133583" "05460" "00168723" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133584" "05460" "00168724" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133585" "05460" "00168725" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133586" "05400" "00168726" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133588" "05460" "00168728" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133589" "00198" "00168729" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000133590" "05458" "00168730" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness (DFN)" "" "0000133591" "05458" "00168731" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness (DFN)" "" "0000133592" "05460" "00168732" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133593" "05460" "00168733" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133594" "05460" "00168734" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133595" "05400" "00168735" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133600" "05460" "00168740" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133601" "05460" "00168741" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133602" "05460" "00168742" "00143" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133603" "05460" "00168743" "00143" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133604" "05460" "00168744" "00143" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133605" "05400" "00168745" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133606" "05400" "00168746" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133607" "05400" "00168747" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133608" "05400" "00168748" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133609" "05460" "00168749" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133610" "05460" "00168750" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133611" "05460" "00168751" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133612" "05460" "00168752" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133613" "05460" "00168753" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133614" "05460" "00168754" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133615" "05460" "00168755" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133616" "05460" "00168756" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133617" "05400" "00168757" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133618" "05460" "00168758" "00764" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133619" "05460" "00168759" "00764" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133620" "05460" "00168760" "00764" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133621" "05460" "00168761" "02423" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133622" "05460" "00168762" "00764" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133623" "05460" "00168763" "00764" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133624" "05460" "00168764" "00764" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133625" "05400" "00168765" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133626" "05400" "00168766" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133627" "05400" "00168767" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133628" "05414" "00168768" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133629" "05460" "00168769" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133630" "05460" "00168770" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133631" "05460" "00168771" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133632" "05414" "00168772" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133633" "05460" "00168773" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133634" "05460" "00168774" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133635" "05460" "00168775" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133636" "05460" "00168776" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133637" "05460" "00168777" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133638" "05414" "00168778" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133639" "05414" "00168779" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133640" "05414" "00168780" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133641" "05414" "00168781" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133642" "05460" "00168782" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133643" "05460" "00168783" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133644" "05460" "00168784" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133645" "05460" "00168785" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133646" "05460" "00168786" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133647" "05460" "00168787" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133648" "05460" "00168788" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133649" "05460" "00168789" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133650" "05460" "00168790" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133651" "05460" "00168791" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133652" "05460" "00168792" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133653" "05460" "00168793" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133654" "05460" "00168794" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133655" "05414" "00168795" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133656" "05460" "00168796" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133657" "05460" "00168797" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133658" "05460" "00168798" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133659" "05460" "00168799" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133660" "05460" "00168800" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133661" "05460" "00168801" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133662" "05460" "00168802" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133663" "05460" "00168803" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133664" "05414" "00168804" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133665" "05414" "00168805" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133666" "05414" "00168806" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133667" "05414" "00168807" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133668" "05414" "00168808" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133669" "05414" "00168809" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133670" "05414" "00168810" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133671" "05414" "00168811" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher type II" "" "0000133672" "05460" "00168812" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133673" "05460" "00168813" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133674" "05460" "00168814" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133675" "05460" "00168815" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133676" "05460" "00168816" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133677" "05460" "00168817" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133678" "05460" "00168818" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133679" "05460" "00168819" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133680" "05460" "00168820" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133681" "05460" "00168821" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133682" "05460" "00168822" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133683" "05460" "00168823" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133684" "05460" "00168824" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133685" "05460" "00168825" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133686" "05460" "00168826" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133687" "05460" "00168827" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133688" "05460" "00168828" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133689" "05460" "00168829" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133690" "05460" "00168830" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133691" "05460" "00168831" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133692" "05460" "00168832" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133693" "05460" "00168833" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133694" "05460" "00168834" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133695" "05460" "00168835" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133696" "05460" "00168836" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133697" "05460" "00168837" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133698" "05460" "00168838" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133699" "05460" "00168839" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133700" "05460" "00168840" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133701" "05460" "00168841" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133702" "05460" "00168842" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133703" "05460" "00168843" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133704" "05460" "00168844" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133705" "05460" "00168845" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133706" "05460" "00168846" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133707" "05460" "00168847" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133708" "05460" "00168848" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133709" "05460" "00168849" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133710" "05460" "00168850" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133711" "05460" "00168851" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133712" "05460" "00168852" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133713" "05460" "00168853" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133714" "05460" "00168854" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133715" "05460" "00168855" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133716" "05460" "00168856" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133717" "05460" "00168857" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133718" "05460" "00168858" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133719" "05460" "00168859" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133720" "05460" "00168860" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133721" "05460" "00168861" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133722" "05460" "00168862" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133723" "05460" "00168863" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133724" "05460" "00168864" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133725" "05460" "00168865" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133726" "05460" "00168866" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133727" "05460" "00168867" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133728" "05460" "00168868" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133729" "05460" "00168869" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133730" "05460" "00168870" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133731" "05460" "00168871" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133732" "05460" "00168872" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133733" "05460" "00168873" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133734" "05460" "00168874" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133735" "05460" "00168875" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133736" "05460" "00168876" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133737" "05460" "00168877" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133738" "05460" "00168878" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133739" "05460" "00168879" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133740" "05460" "00168880" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133741" "05460" "00168881" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133742" "05460" "00168882" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133743" "05460" "00168883" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133744" "05460" "00168884" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133745" "05460" "00168885" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133746" "05460" "00168886" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133747" "05460" "00168887" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133748" "05460" "00168888" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133749" "05460" "00168889" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133750" "05460" "00168890" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133751" "05460" "00168891" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133752" "05460" "00168892" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133753" "05460" "00168893" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133754" "05460" "00168894" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133755" "05460" "00168895" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133756" "05460" "00168896" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133757" "05460" "00168897" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133758" "05460" "00168898" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133759" "05460" "00168899" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133760" "05460" "00168900" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133761" "05460" "00168901" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133762" "05460" "00168902" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133763" "05460" "00168903" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133764" "05460" "00168904" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133765" "05460" "00168905" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133766" "05460" "00168906" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133767" "05460" "00168907" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133768" "05460" "00168908" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133769" "05460" "00168909" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133770" "05460" "00168910" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133771" "05460" "00168911" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133772" "05460" "00168912" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133773" "05460" "00168913" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133774" "05460" "00168914" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133775" "05460" "00168915" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133776" "05460" "00168916" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133777" "05460" "00168917" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133778" "05460" "00168918" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133779" "05460" "00168919" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133780" "05460" "00168920" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133781" "05460" "00168921" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133782" "05460" "00168922" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133783" "05460" "00168923" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133784" "05460" "00168924" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133785" "05460" "00168925" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133786" "05460" "00168926" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133787" "05460" "00168927" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133788" "05460" "00168928" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1B" "Usher type I" "" "0000133789" "05400" "00168929" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133790" "05400" "00168930" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133791" "05400" "00168931" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133792" "05400" "00168932" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133793" "05400" "00168933" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "autosomal recessive deafness" "" "0000133794" "05460" "00168934" "02430" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "USH1B" "Usher type I" "" "0000133795" "05460" "00168935" "02430" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "USH1B" "Usher type I" "" "0000133796" "05460" "00168936" "02430" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "USH1B" "Usher type I" "" "0000133797" "05460" "00168937" "02430" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "USH1B" "Usher type I" "" "0000133798" "05460" "00168938" "02430" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "USH1B" "Usher type I" "" "0000133799" "05460" "00168939" "02430" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "USH1B" "Usher type I" "" "0000133800" "05460" "00168940" "02430" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "USH1B" "Usher type I" "" "0000201828" "00198" "00263969" "01807" "Unknown" "" "Rod-cone dystrophy (HP:0000510); Hearing impairment (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "0000210683" "04214" "00276088" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000226950" "04214" "00299640" "00006" "Familial, autosomal recessive" "37y" "see paper; ..., 20y-reduced acuity (HP:0007663), mild nyctalopia (HP:0000662), blind spots (HP:0000575); irregular peripheral pigment (HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), vitreous opacities (HP:0007648), attenuated sheathed vessels (HP:0007843), peripheral retinal exudate (HP:0001147); 30y-subnormal PERG, rod specific ERG markedly subnormal, bright flash subnormal with unusual bifid b waves, cone specific delayed and subnormal, profound rod>cone dysfunction; 29y-colour vision Ishihara R 17/17 L 13/17; 36y-octopus visual fields central 20-30 degrees retained on R, 30-50 degrees on L;37y 24-2 central scotomas, fields constricted to 15 degrees each eye; presenting VA logMAR (Snellen) R 0.3 (20/40), L 0.18 (20/30); latest VA logMAR R 0.6 (20/80), L 0.6 (20/80); latest refractive error, dioptres R 0/-0.50x100, L +1.00/-0.75x110" "20y" "" "" "" "" "" "" "" "RP78" "retinitis pigmentosa" "" "0000232734" "05086" "00306911" "03388" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000233110" "00198" "00307310" "01164" "Unknown" "" "Hearing impairment (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "0000233950" "04214" "00308522" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000233951" "04214" "00308523" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234044" "04214" "00308616" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234545" "04214" "00309225" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234546" "04214" "00309226" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234547" "04214" "00309227" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234548" "04214" "00309228" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234549" "04214" "00309229" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234550" "04214" "00309230" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234551" "04214" "00309231" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234552" "04214" "00309232" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234553" "04214" "00309233" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234554" "04214" "00309234" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234555" "04214" "00309235" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234556" "04214" "00309236" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234557" "04214" "00309237" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234558" "04214" "00309238" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234559" "04214" "00309239" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234876" "04214" "00309556" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234889" "04214" "00309569" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000234890" "04214" "00309570" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234895" "04214" "00309575" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, atypical" "" "0000234896" "04214" "00309576" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234904" "04214" "00309584" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000234906" "04214" "00309586" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234907" "04214" "00309587" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234908" "04214" "00309588" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234924" "04214" "00309604" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000234931" "04214" "00309611" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000235178" "05086" "00309863" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000238565" "05086" "00314769" "00006" "Familial, autosomal recessive" "" "see paper; hearing loss , ..." "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000238566" "05086" "00314770" "00006" "Familial, autosomal recessive" "" "see paper; hearing loss , ..." "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000238567" "05086" "00314771" "00006" "Familial, autosomal recessive" "" "see paper; hearing loss , ..." "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000242940" "00198" "00324398" "00006" "Isolated (sporadic)" "00y34m" "typical facial features, microcephaly, no prominent glabella, short philtrum, micrognathia, no high forehead, abnormal ears, no hypertelorism, no epicanthal folds, no exophthalmos, no ptosis, no high-arched eyebrows, wide nasal bridge, no beaked nose, no cleft lip, no cleft palate, downturned corners mouth, abnormal teeth, no webbed neck ; intrauterine/postnatal growth retardation; intellectual disability/developmental delay; hypotonia; no decreased muscle bulk; no seizures and/or distinctive EEG abnormalities; feeding difficulties; no skin changes; no skeletal anomalies; craniofacial asymmetry; hearing loss; no heart defects; no eye/optic nerve anomalies; no genitourinary tract anomalies; no structural brain anomalies; no stereotypies; no liver anomalies; no gallbladder anomalies; no gut anomalies; no diaphragm anomalies; no esophagus anomalies; no lung anomalies; no aorta anomalies" "" "" "" "" "" "" "" "" "WHSC1" "developmental delay" "" "0000243967" "04214" "00325480" "00006" "Familial, autosomal recessive" "" "syndromic retinal systrophy" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000246217" "04214" "00327990" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000246219" "04214" "00327992" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000246220" "04214" "00327993" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000246222" "04214" "00327995" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000246223" "04214" "00327996" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000246303" "04214" "00328076" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000246348" "04214" "00328121" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000246391" "04214" "00328164" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000246734" "04214" "00328508" "00000" "Familial, autosomal recessive" "14y" "retinal dystrophy (HP:0000556), sensorineural hearing impairment (HP:0000407)" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000249500" "05086" "00331306" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000249797" "05086" "00331605" "00000" "Familial, autosomal recessive" "6y" "profound hearing loss (acouophone or cochlear implant); history ototoxic drug usage" "<1y" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000249798" "05086" "00331606" "00000" "Familial, autosomal recessive" "10y" "profound hearing loss (acouophone or cochlear implant)" "<1y" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000249799" "05086" "00331607" "00000" "Familial, autosomal recessive" "42y" "profound hearing loss" "1y" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000249800" "05086" "00331608" "00000" "Familial, autosomal recessive" "3y" "profound hearing loss (acouophone or cochlear implant)" "<1y" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000249801" "05086" "00331609" "00000" "Familial, autosomal recessive" "18y" "profound hearing loss (acouophone or cochlear implant)" "<1y" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000249802" "05086" "00331610" "00000" "Familial, autosomal recessive" "3y" "profound hearing loss" "<1y" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000249803" "05086" "00331611" "00000" "Familial, autosomal recessive" "5y" "profound hearing loss (acouophone or cochlear implant)" "3y" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000249804" "05086" "00331612" "00000" "Familial, autosomal recessive" "13y" "profound hearing loss (acouophone or cochlear implant)" "<1y" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000249805" "05086" "00331613" "00000" "Familial, autosomal recessive" "15y" "profound hearing loss (acouophone or cochlear implant)" "<1y" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000249806" "05086" "00331614" "00000" "Familial, autosomal recessive" "28y" "profound hearing loss" "<1y" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000249814" "05086" "00331622" "00000" "Familial, autosomal recessive" "28y" "profound hearing loss" "<1y" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000249815" "05086" "00331623" "00000" "Familial, autosomal recessive" "14y" "profound hearing loss (acouophone or cochlear implant)" "<1y" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000249816" "05086" "00331624" "00000" "Familial, autosomal recessive" "7y" "profound hearing loss (acouophone or cochlear implant)" "1y" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000249821" "05086" "00331629" "00000" "Familial, autosomal recessive" "20y" "childhood onset" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000249822" "05086" "00331630" "00000" "Familial, autosomal recessive" "13y" "profound hearing loss" "1y" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000249823" "05086" "00331631" "00000" "Familial, autosomal recessive" "17y" "" "7y" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000249892" "05086" "00331700" "00000" "Familial, autosomal recessive" "46y" "" "7y" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000249899" "05086" "00331707" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000250617" "04214" "00332433" "00000" "Familial, autosomal recessive" "32y" "see paper; ..., 6y-onset visual impairment" "1d" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000250618" "04214" "00332434" "00000" "Familial, autosomal recessive" "21y" "see paper; ..., 10y-onset visual impairment" "2y" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000250622" "04214" "00332438" "00000" "Familial, autosomal recessive" "31y" "see paper; ..., 19y-onset visual impairment" "3m" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000250627" "04214" "00332443" "00000" "Familial, autosomal recessive" "12y" "see paper; ..., 1y-onset visual impairment" "1d" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000250628" "04214" "00332444" "00000" "Familial, autosomal recessive" "23y" "see paper; ..., 4y-onset visual impairment" "18m" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000250683" "04214" "00332499" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (AD)" "" "0000251615" "04214" "00333428" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP" "" "0000251831" "04214" "00333647" "00000" "Familial, autosomal recessive" "31y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252034" "04214" "00333849" "00000" "Familial, autosomal recessive" "57y" "clinical category IA1a" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252192" "04214" "00334007" "00000" "Familial, autosomal recessive" "5y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252193" "04214" "00334008" "00000" "Familial, autosomal recessive" "9y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252194" "04214" "00334009" "00000" "Familial, autosomal recessive" "8y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252195" "04214" "00334010" "00000" "Familial, autosomal recessive" "20y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252196" "04214" "00334011" "00000" "Familial, autosomal recessive" "32y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252197" "04214" "00334012" "00000" "Familial, autosomal recessive" "32y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252964" "04214" "00335249" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252992" "04214" "00335277" "02485" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253741" "05415" "00168140" "00000" "Familial, autosomal recessive" "" "congenital night blindness; no cataract; congenital severe to profound hearing impairment; vestibular dysfunction" "" "" "" "" "" "" "" "" "USH1B" "Usher syndrome type I" "" "0000253742" "04214" "00335841" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253743" "04214" "00335842" "00000" "Familial, autosomal recessive" "" "10y-onset night blindness; no cataract; vestibular dysfunction" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253744" "04214" "00335843" "00000" "Familial, autosomal recessive" "" "39y-onset night blindness; cataract" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253745" "04214" "00335844" "00000" "Familial, autosomal recessive" "" "37y-onset night blindness" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253746" "04214" "00335845" "00000" "Familial, autosomal recessive" "" "12y-onset night blindness; cataract" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253747" "04214" "00335846" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253751" "04214" "00335850" "00000" "Unknown" "" "cataract; congenital severe to profound hearing impairment" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253752" "04214" "00335851" "00000" "Familial, autosomal recessive" "" "11y-onset night blindness; cataract; congenital severe to profound hearing impairment" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253754" "04214" "00335853" "00000" "Familial, autosomal recessive" "" "5y-onset night blindness; vestibular dysfunction" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253756" "04214" "00335855" "00000" "Familial, autosomal recessive" "" "10y-onset night blindness; ; no cataract; congenital severe to profound hearing impairment" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253761" "04214" "00335860" "00000" "Familial, autosomal recessive" "" "17y-onset night blindness; macula edema; no cataract; congenital severe to profound hearing impairment" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253762" "04214" "00335861" "00000" "Unknown" "" "21y-onset night blindness; macula edema; cataract; congenital severe to profound hearing impairment" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253763" "04214" "00335862" "00000" "Unknown" "" "43y-onset night blindness; cataract; congenital severe to profound hearing impairment" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253764" "04214" "00335863" "00000" "Familial, autosomal recessive" "" "8y-onset night blindness; cataract; congenital severe to profound hearing impairment" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253765" "04214" "00335864" "00000" "Familial, autosomal recessive" "" "macula edema; no cataract; congenital severe to profound hearing impairment; vestibular dysfunction" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253766" "04214" "00335865" "00000" "Familial, autosomal recessive" "" "4y-onset night blindness; macula edema; no cataract; congenital severe to profound hearing impairment; vestibular dysfunction" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253767" "04214" "00335866" "00000" "Familial, autosomal recessive" "" "congenital severe to profound hearing impairment" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253768" "04214" "00335867" "00000" "Familial, autosomal recessive" "" "cataract" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253895" "04214" "00335980" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000254041" "04214" "00358826" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Usher syndrome type 1" "" "0000254042" "04214" "00358827" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Usher syndrome type 1" "" "0000254376" "04214" "00359079" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis or early onset rod-cone dystrophy" "" "0000254541" "04214" "00359244" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000254545" "04214" "00359248" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000254549" "04214" "00359252" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000254555" "04214" "00359258" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000257164" "05460" "00361770" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000257169" "05460" "00361775" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000257172" "05460" "00361778" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000257173" "05460" "00361779" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000257174" "05460" "00361780" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000257175" "05460" "00361781" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000257176" "02115" "00361782" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000257177" "05460" "00361783" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000257178" "05460" "00361784" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000257180" "05460" "00361785" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000257181" "05460" "00361786" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000257182" "05460" "00361787" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000257183" "05460" "00361788" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000258559" "05415" "00363194" "00000" "Familial, autosomal recessive" "36y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258560" "05415" "00363195" "00000" "Familial, autosomal recessive" "29y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258561" "05415" "00363196" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258562" "05415" "00363197" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258563" "05415" "00363198" "00000" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258564" "05415" "00363199" "00000" "Familial, autosomal recessive" "5y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258565" "05415" "00363200" "00000" "Familial, autosomal recessive" "35y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258566" "05415" "00363201" "00000" "Familial, autosomal recessive" "16y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258567" "05415" "00363202" "00000" "Familial, autosomal recessive" "30y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258568" "05415" "00363203" "00000" "Familial, autosomal recessive" "29y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258569" "05415" "00363204" "00000" "Familial, autosomal recessive" "11y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258570" "05415" "00363205" "00000" "Familial, autosomal recessive" "2y" "no retinal dystrophy at time the genetic diagnosis" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258571" "05415" "00363206" "00000" "Familial, autosomal recessive" "29y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258572" "05415" "00363207" "00000" "Familial, autosomal recessive" "28y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258573" "05415" "00363208" "00000" "Familial, autosomal recessive" "58y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258574" "05415" "00363209" "00000" "Familial, autosomal recessive" "9y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258575" "05415" "00363210" "00000" "Familial, autosomal recessive" "4y" "no retinal dystrophy at time the genetic diagnosis" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258576" "05415" "00363211" "00000" "Familial, autosomal recessive" "47y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258577" "05415" "00363212" "00000" "Familial, autosomal recessive" "34y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258578" "05415" "00363213" "00000" "Familial, autosomal recessive" "37y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258579" "05415" "00363214" "00000" "Familial, autosomal recessive" "9y" "no retinal dystrophy at time the genetic diagnosis" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258580" "05415" "00363215" "00000" "Familial, autosomal recessive" "13y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258598" "05415" "00363233" "00000" "Familial, autosomal recessive" "27y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, atypical" "" "0000258599" "05415" "00363234" "00000" "Familial, autosomal recessive" "26y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, atypical" "" "0000258600" "05415" "00363235" "00000" "Familial, autosomal recessive" "48y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, atypical" "" "0000258601" "05415" "00363236" "00000" "Familial, autosomal recessive" "44y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, atypical" "" "0000258602" "05415" "00363237" "00000" "Familial, autosomal recessive" "25y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, atypical" "" "0000259031" "04214" "00363681" "00000" "Isolated (sporadic)" "" "syndromic" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000267830" "05086" "00372515" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000267834" "04214" "00372519" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000267960" "04214" "00372681" "00000" "Familial, X-linked" "26y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268677" "05103" "00373401" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "deafness" "" "0000268680" "05103" "00373404" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "deafness" "" "0000269027" "04214" "00373818" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269053" "04214" "00373844" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269209" "05415" "00374000" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000269210" "05415" "00374001" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000269211" "05415" "00374002" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000270477" "05415" "00375266" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000270565" "04214" "00375351" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000270647" "04214" "00375433" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000273634" "05415" "00379779" "03508" "Familial, autosomal recessive" "" "HP:0032037,\tHP:0000662,\tHP:0000613,\tHP:0001133,\tHP:0000365,\tHP:0000510" "" "" "" "" "" "" "" "" "" "Usher syndrome (USH)" "" "0000273700" "04214" "00379846" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000273701" "04214" "00379847" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa?" "" "0000274000" "04214" "00380145" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000274062" "04214" "00380207" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000274067" "04214" "00380212" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000274068" "04214" "00380213" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000274686" "05415" "00380833" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "" "0000276414" "04214" "00382565" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276415" "04214" "00382566" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Unspecified syndrome" "" "0000276416" "04214" "00382567" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276417" "04214" "00382568" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276418" "04214" "00382569" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277377" "04214" "00383592" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000277379" "04214" "00383594" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000277381" "04214" "00383596" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000277385" "04214" "00383600" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000277394" "04214" "00383609" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000277396" "04214" "00383611" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000278012" "04214" "00384227" "00000" "Familial, autosomal recessive" "11y" "" "0m" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000278013" "04214" "00384228" "00000" "Familial, autosomal recessive" "10y" "" "0m" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000278425" "00198" "00384635" "00000" "Familial, autosomal recessive" "" "Usher syndrome and addtional retinitis pigmentosa" "" "" "" "" "" "" "" "" "Mixed" "Usher syndrome" "" "0000278945" "04214" "00385149" "00000" "Familial, autosomal recessive" "44y7m" "HP:0008615 Adult onset sensorineural hearing impairment; HP:0000510 Rod cone dystrophy; HP:0000662 Nyctalopia; HP:0001123 Visual field defect" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000280678" "04214" "00386878" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280683" "04214" "00386883" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280690" "04214" "00386890" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280889" "04214" "00387111" "00000" "Familial, autosomal recessive" "12y" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "" "0000280890" "04214" "00387112" "00000" "Familial, autosomal recessive" "7y" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "" "0000280891" "04214" "00387113" "00000" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "" "0000280892" "04214" "00387114" "00000" "Familial, autosomal recessive" "12y" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "" "0000280893" "04214" "00387115" "00000" "Familial, autosomal recessive" "16y" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "" "0000282096" "04214" "00388556" "00000" "Familial, autosomal recessive" "" "Pretest syndrome" "" "10y" "" "" "" "" "" "" "Usher syndrome, type 1B" "Usher syndrome" "" "0000282097" "04214" "00388557" "00000" "Isolated (sporadic)" "" "Pretest syndrome" "" "31y" "" "" "" "" "" "" "Usher syndrome, type 1B" "Usher syndrome" "" "0000282332" "04214" "00388791" "00000" "Familial, autosomal recessive" "27y" "age at genetic diagnosis mentioned" "" "19y" "" "" "" "" "" "" "Usher syndrome type I" "" "" "0000282343" "04214" "00388802" "00000" "Familial, autosomal recessive" "47y" "age at genetic diagnosis mentioned" "" "43y" "" "" "" "" "" "" "Usher syndrome type I" "" "" "0000282380" "04214" "00388839" "00000" "Familial, autosomal recessive" "20y" "age at genetic diagnosis mentioned" "" "12y" "" "" "" "" "" "" "Usher syndrome type I" "" "" "0000282383" "04214" "00388842" "00000" "Familial, autosomal recessive" "30y" "age at genetic diagnosis mentioned" "" "28y" "" "" "" "" "" "" "Usher syndrome type I" "" "" "0000282402" "04214" "00388861" "00000" "Familial, autosomal recessive" "26y" "age at genetic diagnosis mentioned" "" "21y" "" "" "" "" "" "" "Usher syndrome type I" "" "" "0000282416" "04214" "00388875" "00000" "Familial, autosomal recessive" "42y" "age at genetic diagnosis mentioned" "" "39y" "" "" "" "" "" "" "Usher syndrome type I" "" "" "0000282423" "04214" "00388882" "00000" "Familial, autosomal recessive" "18y" "age at genetic diagnosis mentioned" "" "15y" "" "" "" "" "" "" "Usher syndrome type I" "" "" "0000282432" "04214" "00388891" "00000" "Familial, autosomal recessive" "15y" "age at genetic diagnosis mentioned" "" "13y" "" "" "" "" "" "" "Usher syndrome type I" "" "" "0000282813" "04214" "00389272" "00000" "Familial, autosomal recessive" "19y" "age at genetic diagnosis mentioned" "" "12y" "" "" "" "" "" "" "Usher syndrome type 2" "" "" "0000282854" "04214" "00389313" "00000" "Familial, autosomal recessive" "30y" "age at genetic diagnosis mentioned" "" "24y" "" "" "" "" "" "" "Usher syndrome type 2" "" "" "0000282947" "04214" "00389406" "00000" "Familial, autosomal recessive" "61y" "age at genetic diagnosis mentioned" "" "57y" "" "" "" "" "" "" "Usher syndrome type 2" "" "" "0000283849" "04214" "00390311" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283850" "04214" "00390312" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283851" "04214" "00390313" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283852" "04214" "00390314" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283853" "04214" "00390315" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283854" "04214" "00390316" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283855" "04214" "00390317" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "0000283856" "04214" "00390318" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284297" "04214" "00390809" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome type 1" "" "0000284298" "04214" "00390810" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome type 1" "" "0000284810" "04214" "00391370" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 1B (276900)" "Usher syndrome, type 1B (276900)" "" "0000284915" "04214" "00391579" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000285843" "04214" "00392596" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000285885" "04214" "00392638" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000285901" "04214" "00392654" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000285911" "04214" "00392664" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000285926" "04214" "00392679" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286831" "04214" "00393625" "00000" "Isolated (sporadic)" "10y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287127" "04214" "00393921" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287128" "04214" "00393922" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287129" "04214" "00393923" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287130" "04214" "00393924" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287131" "04214" "00393925" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287132" "04214" "00393926" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287133" "04214" "00393927" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287134" "04214" "00393928" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287135" "04214" "00393929" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287136" "04214" "00393930" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287137" "04214" "00393931" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287138" "04214" "00393932" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287139" "04214" "00393933" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287140" "04214" "00393934" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287141" "04214" "00393935" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287142" "04214" "00393936" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287143" "04214" "00393937" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287144" "04214" "00393938" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287145" "04214" "00393939" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287902" "04214" "00394699" "00000" "Familial, autosomal recessive" "62y" "" "6y" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000287903" "04214" "00394700" "00000" "Familial, autosomal recessive" "31y" "" "22y" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000287904" "04214" "00394701" "00000" "Familial, autosomal recessive" "23y" "" "8y" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000287905" "04214" "00394702" "00000" "Familial, autosomal recessive" "35y" "" "1y" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000287906" "04214" "00394703" "00000" "Familial, autosomal recessive" "30y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000287907" "04214" "00394704" "00000" "Familial, autosomal recessive" "30y" "" "10y" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000287908" "04214" "00394705" "00000" "Familial, autosomal recessive" "28y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000287909" "04214" "00394706" "00000" "Familial, autosomal recessive" "72y" "" "14y" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000287910" "04214" "00394707" "00000" "Familial, autosomal recessive" "50y" "" "36y" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000287911" "04214" "00394708" "00000" "Familial, autosomal recessive" "47y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000287912" "04214" "00394709" "00000" "Familial, autosomal recessive" "17y" "" "14y" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000287913" "04214" "00394710" "00000" "Familial, autosomal recessive" "55y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000287914" "04214" "00394711" "00000" "Familial, autosomal recessive" "41y" "" "5y" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000288944" "04214" "00395782" "00000" "Unknown" "50y11m" "" "48y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000288954" "04214" "00395792" "00000" "Unknown" "44y4m" "" "43y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289123" "04214" "00395961" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "sector retinitis pigmentosa" "" "" "0000289124" "04214" "00395962" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "sector retinitis pigmentosa" "" "" "0000289371" "04214" "00396209" "00000" "Familial, autosomal recessive" "3y" "1 month: nystagmus the oculo-digital sign" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000289373" "04214" "00396211" "00000" "Familial, autosomal recessive" "31y" "6 months: nystagmus, no fixation, no pacing" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000289381" "04214" "00396219" "00000" "Familial, autosomal recessive" "7y" "2 months: nystagmus, profound oculo-digital sign, no fixation, no pacing, no eye contact" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000289390" "04214" "00396228" "00000" "Familial, autosomal recessive" "1y6m" "1 month: no fixation, no pacing, no eye contact, 2 months: nystagmus, 5 months: oculo-digital sign, sluggish pupillary responses" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000289391" "04214" "00396229" "00000" "Familial, autosomal recessive" "40y" "1 months: nystagmus and photophobia, sluggish pupillary responses" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000289394" "04214" "00396232" "00000" "Familial, autosomal recessive" "68y6m" "atypical vestibular findings, Profound hearing loss, Low sinusoidal harmonic accelerationAbsent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289395" "04214" "00396233" "00000" "Familial, autosomal recessive" "21y6m" "atypical vestibular findings, Profound hearing loss," "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289396" "04214" "00396234" "00000" "Familial, autosomal recessive" "26y8m" "atypical vestibular findings, Profound hearing loss, Present cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289397" "04214" "00396235" "00000" "Familial, autosomal recessive" "47y5m" "atypical vestibular findings, Profound hearing loss, Low sinusoidal harmonic accelerationAbsent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289398" "04214" "00396236" "00000" "Familial, autosomal recessive" "48y11m" "atypical vestibular findings, Profound hearing loss, Low sinusoidal harmonic accelerationAbsent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289399" "04214" "00396237" "00000" "Familial, autosomal recessive" "22y2m" "atypical vestibular findings, Profound hearing loss, Low sinusoidal harmonic accelerationAbsent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289400" "04214" "00396238" "00000" "Familial, autosomal recessive" "16y1m" "atypical vestibular findings, Profound hearing loss, Low sinusoidal harmonic accelerationAbsent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289423" "04214" "00396261" "00000" "Familial, autosomal recessive" "68y6m" "atypical vestibular findings, Profound hearing loss, Low sinusoidal harmonic accelerationAbsent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289424" "04214" "00396262" "00000" "Familial, autosomal recessive" "21y6m" "atypical vestibular findings, Profound hearing loss," "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289425" "04214" "00396263" "00000" "Familial, autosomal recessive" "26y8m" "atypical vestibular findings, Profound hearing loss, Present cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289426" "04214" "00396264" "00000" "Familial, autosomal recessive" "47y5m" "atypical vestibular findings, Profound hearing loss, Low sinusoidal harmonic accelerationAbsent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289427" "04214" "00396265" "00000" "Familial, autosomal recessive" "48y11m" "atypical vestibular findings, Profound hearing loss, Low sinusoidal harmonic accelerationAbsent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289428" "04214" "00396266" "00000" "Familial, autosomal recessive" "22y2m" "atypical vestibular findings, Profound hearing loss, Low sinusoidal harmonic accelerationAbsent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289429" "04214" "00396267" "00000" "Familial, autosomal recessive" "16y1m" "atypical vestibular findings, Profound hearing loss, Low sinusoidal harmonic accelerationAbsent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289450" "04214" "00396288" "00000" "Familial, autosomal recessive" "10y11m" "typical vestibular findings, Profound hearing loss, Absent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289451" "04214" "00396289" "00000" "Familial, autosomal recessive" "38y6m" "typical vestibular findings, Profound hearing loss, Absent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289452" "04214" "00396290" "00000" "Familial, autosomal recessive" "19y8m" "typical vestibular findings, Profound hearing loss, Absent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289453" "04214" "00396291" "00000" "Familial, autosomal recessive" "27y10m" "typical vestibular findings, Profound hearing loss, Absent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289581" "04214" "00396419" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000289634" "04214" "00396473" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome Type I" "" "" "0000289640" "04214" "00396479" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome Type I" "" "" "0000292834" "04214" "00399730" "00000" "Familial, autosomal recessive" "28y" "" "<10y" "" "deafness, vision loss" "" "" "" "" "" "" "Usher syndrome type 2 (USH2)" "" "0000292835" "04214" "00399733" "00000" "Familial, autosomal recessive" "15y" "" "<10y" "" "deafness, vision loss" "" "" "" "" "" "" "Usher syndrome type 2 (USH2)" "" "0000292836" "04214" "00399734" "00000" "Familial, autosomal recessive" "12y" "" "<10y" "" "deafness, vision loss" "" "" "" "" "" "" "Usher syndrome type 2 (USH2)" "" "0000292838" "04214" "00399737" "00000" "Familial, autosomal recessive" "7y" "normal intelligence at the age of 7 years" "2y" "" "hearing aid" "" "" "" "" "" "" "autosomal recessive sensorineural hearing loss" "" "0000292839" "04214" "00399738" "00000" "Familial, autosomal recessive" "12y" "cannot speak anything, living all time without hearing aid" "" "" "" "" "" "" "" "" "" "autosomal recessive sensorineural hearing loss" "" "0000292840" "04214" "00399739" "00000" "Familial, autosomal recessive" "36y" "Hearing threshold (dB): 70; Normal retina, blood vessels and optic disc" "<0y" "" "" "" "" "" "" "" "" "autosomal recessive, non-syndromic hearing loss (ARNSHL)" "" "0000292841" "04214" "00399740" "00000" "Familial, autosomal recessive" "" "" "<0y" "" "severe to profound congenital bilateral hearing loss" "" "" "" "" "" "" "autosomal recessive, non-syndromic hearing loss (ARNSHL)" "" "0000292842" "04214" "00399741" "00000" "Familial, autosomal recessive" "33y" "Hearing threshold (dB): 60" "<0y" "" "mild progressive hearing loss" "" "" "" "" "" "" "autosomal recessive, non-syndromic hearing loss (ARNSHL)" "" "0000292843" "04214" "00399742" "00000" "Familial, autosomal recessive" "30y" "Hearing threshold (dB): 90" "<0y" "" "severe congenital deafness" "" "" "" "" "" "" "autosomal recessive, non-syndromic hearing loss (ARNSHL)" "" "0000292844" "04214" "00399743" "00000" "Familial, autosomal recessive" "" "" "" "" "mild progressive hearing loss" "" "" "" "" "" "" "autosomal recessive, non-syndromic hearing loss (ARNSHL)" "" "0000292845" "04214" "00399744" "00000" "Familial, autosomal recessive" "" "" "" "" "severe congenital deafness" "" "" "" "" "" "" "autosomal recessive, non-syndromic hearing loss (ARNSHL)" "" "0000292846" "04214" "00399745" "00000" "Familial, autosomal recessive" "9y" "" "<0y" "" "congenital deafness and retinitis pigmentosa" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000292847" "04214" "00399746" "00000" "Familial, autosomal recessive" "" "severe vision loss (complete blindness) and vestibular dysfunction" "" "" "severe early onset retinitis pigmentosa" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000292848" "04214" "00399747" "00000" "Familial, autosomal recessive" "" "bilateral hearing loss, visual impairment and vestibular dysfunction, bilateral naked visual acuity was measured" "" "" "moderate early onset progressive retinitis pigmentosa" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000292849" "04214" "00399749" "00000" "Familial, autosomal recessive" "16y" "vestibular dysfunction at 2y, night blindness and amblyopia at the age of 3-4 years, at the age of 14y reported bilateral rod-cone degeneration." "1y" "" "profound hearing loss" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000292850" "04214" "00399750" "00000" "Familial, autosomal recessive" "1y" "" "" "" "profound hearing loss" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000292851" "04214" "00399751" "00000" "Familial, autosomal recessive" "12y" "binaural sensorineural deafness, uncorrected visual acuity (UCVA, 0.2/0.08) and best-corrected visual acuity (BCVA, 0.2/0.15)" "" "" "speechless and had congenital hearing loss" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000292852" "04214" "00399752" "00000" "Familial, autosomal recessive" "12y" "binaural sensorineural deafness, uncorrected visual acuity (UCVA, 0.2/0.08) and best-corrected visual acuity (BCVA, 0.2/0.15)" "" "" "speechless and had congenital hearing loss" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000292853" "04214" "00399753" "00000" "Familial, autosomal recessive" "16y" "UCVA (0.15/0.1) and BCVA (0.15/0.1), blurred fundus macular due to eye fibrillation" "" "" "speechless and had congenital hearing loss" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000292854" "04214" "00399754" "00000" "Familial, autosomal recessive" "16y" "UCVA (0.15/0.1) and BCVA (0.15/0.1), blurred fundus macular due to eye fibrillation" "" "" "speechless and had congenital hearing loss" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000292855" "04214" "00399755" "00000" "Familial, autosomal dominant" "72y" "Audiogram shape: Flat" "40y" "" "Severe hearing loss" "" "" "" "" "" "" "autosomal dominant late-onset progressive non-syndromic sensorineural hearing loss (SNHL)" "" "0000292856" "04214" "00399756" "00000" "Familial, autosomal dominant" "48y" "Audiogram shape: Flat" "20y" "" "Severe hearing loss" "" "" "" "" "" "" "autosomal dominant late-onset progressive non-syndromic sensorineural hearing loss (SNHL)" "" "0000292857" "04214" "00399757" "00000" "Familial, autosomal dominant" "41y" "Audiogram shape: Flat" "15y" "" "Profound hearing loss" "" "" "" "" "" "" "autosomal dominant late-onset progressive non-syndromic sensorineural hearing loss (SNHL)" "" "0000292858" "04214" "00399758" "00000" "Familial, autosomal dominant" "47y" "Audiogram shape: Flat" "14y" "" "Profound hearing loss" "" "" "" "" "" "" "autosomal dominant late-onset progressive non-syndromic sensorineural hearing loss (SNHL)" "" "0000292859" "04214" "00399759" "00000" "Familial, autosomal dominant" "40y" "Audiogram shape: Flat" "33y" "" "Severe hearing loss" "" "" "" "" "" "" "autosomal dominant late-onset progressive non-syndromic sensorineural hearing loss (SNHL)" "" "0000292860" "04214" "00399760" "00000" "Familial, autosomal dominant" "38y" "Audiogram shape: Sloping" "38y" "" "Severe hearing loss" "" "" "" "" "" "" "autosomal dominant late-onset progressive non-syndromic sensorineural hearing loss (SNHL)" "" "0000292861" "04214" "00399761" "00000" "Familial, autosomal dominant" "48y" "Audiogram shape: Flat" "13y" "" "Profound hearing loss" "" "" "" "" "" "" "autosomal dominant late-onset progressive non-syndromic sensorineural hearing loss (SNHL)" "" "0000292862" "04214" "00399762" "00000" "Familial, autosomal dominant" "44y" "Audiogram shape: Flat" "14y" "" "Severe hearing loss" "" "" "" "" "" "" "autosomal dominant late-onset progressive non-syndromic sensorineural hearing loss (SNHL)" "" "0000292863" "04214" "00399763" "00000" "Familial, autosomal dominant" "38y" "Audiogram shape: Sloping" "27y" "" "Moderate hearing loss" "" "" "" "" "" "" "autosomal dominant late-onset progressive non-syndromic sensorineural hearing loss (SNHL)" "" "0000292864" "04214" "00399764" "00000" "Familial, autosomal dominant" "34y" "Audiogram shape: Flat" "33y" "" "Moderate hearing loss" "" "" "" "" "" "" "autosomal dominant late-onset progressive non-syndromic sensorineural hearing loss (SNHL)" "" "0000292865" "04214" "00399765" "00000" "Familial, autosomal dominant" "42y" "Audiogram shape: Flat" "20y" "" "Severe hearing loss" "" "" "" "" "" "" "autosomal dominant late-onset progressive non-syndromic sensorineural hearing loss (SNHL)" "" "0000292866" "04214" "00399766" "00000" "Familial, autosomal dominant" "38y" "Audiogram shape: Flat" "27y" "" "Moderate-Severe hearing loss" "" "" "" "" "" "" "autosomal dominant late-onset progressive non-syndromic sensorineural hearing loss (SNHL)" "" "0000292867" "04214" "00399767" "00000" "Familial, autosomal dominant" "25y" "Audiogram shape: Flat" "25y" "" "Moderate-Severe hearing loss" "" "" "" "" "" "" "autosomal dominant late-onset progressive non-syndromic sensorineural hearing loss (SNHL)" "" "0000292868" "04214" "00399768" "00000" "Familial, autosomal dominant" "38y" "-" "" "" "Normal hearing loss" "" "" "" "" "" "" "" "" "0000292869" "04214" "00399769" "00000" "Familial, autosomal dominant" "26y" "Audiogram shape: Sloping" "13y" "" "Moderate hearing loss" "" "" "" "" "" "" "autosomal dominant late-onset progressive non-syndromic sensorineural hearing loss (SNHL)" "" "0000292870" "04214" "00399770" "00000" "Familial, autosomal dominant" "13y" "-" "" "" "Normal hearing loss" "" "" "" "" "" "" "" "" "0000292871" "04214" "00399771" "00000" "Familial, autosomal dominant" "6y" "-" "" "" "Normal hearing loss" "" "" "" "" "" "" "" "" "0000292872" "04214" "00399772" "00000" "Familial, autosomal dominant" "74y" "Audiogram shape: Flat" "20y" "" "Profound hearing loss" "" "" "" "" "" "" "autosomal dominant late-onset progressive non-syndromic sensorineural hearing loss (SNHL)" "" "0000294357" "04214" "00401574" "00000" "Familial, autosomal recessive" "6y" "Areflexia at age 22 months, CI Right Ear - 13 Left ear -24 months, Waxy optic discSlightly narrow retinal vessels, atrophy encroaching the macula" "3y" "" "Night blindness followed by peripheral VF constriction" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294358" "04214" "00401575" "00000" "Familial, autosomal recessive" "2y" "Areflexia-18 months, Both ears cochlear implant - 10 months, Normal optic disc, normal vessels, atrophy outside the arcades" "1y" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294359" "04214" "00401576" "00000" "Familial, autosomal recessive" "16y" "Both ears cochlear implant - 5 years, Temporal pallor of optic disc, PPA, narrow retinal vessels, peripheral retinal atrophy, normal macular reflex, minimal pigmentary changes" "2y" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294360" "04214" "00401577" "00000" "Familial, autosomal recessive" "15y" "cochlear implant - 3 years, Normal optic disc, narrow retinal vessels, retinal atrophy encroaching the fovea, ERM" "1y" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294361" "04214" "00401578" "00000" "Isolated (sporadic)" "13y" "cochlear implant - Unknown age, Normal optic disc, PPA, mild atrophic changes outside the arcades, no pigmentary changes" "7y" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294362" "04214" "00401579" "00000" "Isolated (sporadic)" "54y" "Both ears cochlear implant - 44 years, BE cataract extraction 38 YO, Normal optic disc, narrow retinal vessels, diffuse retinal atrophy encroaching the fovea, ring shaped RPE atrophic changes around the fovea. RE inferior chorioretinal atrophic patch, LE pigmented patch superior to fovea" "15y" "" "Night blindness" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294363" "04214" "00401580" "00000" "Familial, autosomal recessive" "33y" "no cochlear implant, Slightly waxy optic nerve, narrow retinal vessels, retinal atrophy encroaching the fovea" "32y" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294364" "04214" "00401581" "00000" "Familial, autosomal recessive" "13y" "cochlear implant - 5 years, Slightly waxy optic disc, normal vessels, normal macular reflex, no BSPs" "1y" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294365" "04214" "00401582" "00000" "Familial, autosomal recessive" "16y" "no cochlear implant, Slightly waxy optic disc, narrow retinal vessels, diminished macular reflex, ERM" "" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294366" "04214" "00401583" "00000" "Familial, autosomal recessive" "49y" "no cochlear implant, Waxy optic disc, narrow retinal vessels, retinal atrophy encroaching the fovea, few pigmentary dots and BSPs outside the arcades" "" "" "Night blindness" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294367" "04214" "00401584" "00000" "Familial, autosomal recessive" "55y" "no cochlear implant, Waxy optic nerve, narrow retinal vessels, diffuse retinal atrophy involving the macula" "20y" "" "Night blindness, Photophobia" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294368" "04214" "00401585" "00000" "Familial, autosomal recessive" "50y" "no cochlear implant, Waxy optic disc. narrow retinal vessels, diffuse chorioretinal atrophy with few BSPs in the far periphery" "12y" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294369" "04214" "00401586" "00000" "Isolated (sporadic)" "10y" "CI Left ear - 3 years, Right ear - 11 years, Normal optic disc, slightly narrow retinal vessels, peripheral retinal atrophy outside the arcades" "1y" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294370" "04214" "00401587" "00000" "Unknown" "51y" "no cochlear implant," "" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294371" "04214" "00401588" "00000" "Familial, autosomal recessive" "22y" "Normal optic nerve, PPA, narrow retinal vessels, peripheral retinal atrophy, few BSPs peripherally" "" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294372" "04214" "00401589" "00000" "Familial, autosomal recessive" "25y" "Normal optic nerve, PPA, narrow retinal vessels, peripheral retinal atrophy encroaching the macula" "" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294373" "04214" "00401590" "00000" "Familial, autosomal recessive" "28y" "Normal optic disc, narrow retinal vessels, retinal atrophy encroaching the macula" "" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294374" "04214" "00401591" "00000" "Unknown" "20y" "cochlear implant - 10 years, Normal optic nerve, normal retinal vessels, normal macular reflex" "19y" "" "Night blindness" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294375" "04214" "00401592" "00000" "Isolated (sporadic)" "52y" "Normal optic nerve, extremely narrow vessels, retinal atrophy involving the fovea, BSP clumps surrounding the macula" "" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294376" "04214" "00401593" "00000" "Familial, autosomal recessive" "40y" "Slightly waxy optic nerve in the LE, narrow retinal vessels, retinal atrophy involving the fovea, few small pigmentary dots" "15y" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294377" "04214" "00401594" "00000" "Familial, autosomal recessive" "54y" "no cochlear implant, Well colored optic disc, narrow retinal vessels, pigmentary clumps outside the arcades, atrophy inside the arcades" "" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294378" "04214" "00401595" "00000" "Familial, autosomal recessive" "40y" "cochlear implant - 2 years, RE- Normal optic disc" "20y" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294379" "04214" "00401596" "00000" "Isolated (sporadic)" "43y" "Normal optic disc, slightly narrow retinal vessels, retinal atrophy encroaching the fovea, BSP clumps outside the arcades" "" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294380" "04214" "00401597" "00000" "Familial, autosomal recessive" "28y" "no cochlear implant, Normal optic disc, normal retinal vessels, retinal atrophy outside the arcades" "27y" "" "Night blindness" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294381" "04214" "00401598" "00000" "Familial, autosomal recessive" "44y" "no cochlear implant, Normal optic disc, normal retinal vessels, retinal atrophy outside the arcades" "" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294382" "04214" "00401599" "00000" "Familial, autosomal recessive" "14y" "Normal optic disc, PPANormal retinal vessels, retinal atrophy outside the arcades" "4y" "" "Night blindness" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294383" "04214" "00401600" "00000" "Familial, autosomal recessive" "19y" "Normal optic disc, PPANormal retinal vessels, retinal atrophy outside the arcades, few BSPs outside the arcades" "1y" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294384" "04214" "00401601" "00000" "Isolated (sporadic)" "67y" "cochlear implant - 67 years, RE Glaucoma and corneal edema, Diffuse chorioretinal atrophy" "" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294385" "04214" "00401602" "00000" "Isolated (sporadic)" "5y" "cochlear implant - 2 years, Normal optic disc, normal retinal vessels, atrophy along the arcades" "2y" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294386" "04214" "00401603" "00000" "Unknown" "12y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294387" "04214" "00401604" "00000" "Isolated (sporadic)" "18y" "Strabismus Sx at 7 years, Waxy optic disc, PPA, narrow retinal vessels, retinal atrophy involving the fovea, small yellowish dots in the macula" "9y" "" "Night blindness" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294388" "04214" "00401605" "00000" "Familial, autosomal recessive" "25y" "Slightly waxy optic nerve, narrow retinal vessels, retinal atrophy engirdling the macula" "24y" "" "Night blindness" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294389" "04214" "00401606" "00000" "Isolated (sporadic)" "9y" "cochlear implant - 2 years, Waxy optic disc, narrow vessels, atrophic retina encroaching the fovea" "9y" "" "Visual field constriction" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294390" "04214" "00401607" "00000" "Familial, autosomal recessive" "29y" "no cochlear implant, Waxy optic disc, very narrow retinal vessels, retinal atrophy involving the macula" "14y" "" "Photophobia" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294391" "04214" "00401608" "00000" "Isolated (sporadic)" "17y" "cochlear implant - 3 years, Slightly waxy optic disc, narrow vessels, retinal atrophy encroaching the arcades" "" "" "Night blindness" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294392" "04214" "00401609" "00000" "Isolated (sporadic)" "36y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294393" "04214" "00401610" "00000" "Isolated (sporadic)" "13y" "cochlear implant - 3.5 years, Slightly waxy optic nerve, narrow retinal vessels, retinal atrophy engirdling the macula" "" "" "Night blindness" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294394" "04214" "00401611" "00000" "Familial, autosomal recessive" "28y" "Keratoconus, Slightly waxy optic disc, narrow retinal vessels, retinal atrophy encroaching the fovea" "15y" "" "Night blindness" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294395" "04214" "00401612" "00000" "Unknown" "21y" "Normal optic nerveNormal retinal vessels, retinal atrophy outside the arcades, attenuated macular reflex" "12y" "" "Night blindness and decreased visual field" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294396" "04214" "00401613" "00000" "Isolated (sporadic)" "32y" "Both ears cochlear implant - 17 years, Slightly waxy optic disc, RE optic nerve drusen, mild narrow vessels, diffuse retinal atrophy involving the macula" "14y" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294397" "04214" "00401614" "00000" "Isolated (sporadic)" "15y" "cochlear implant - 3.5 years, Normal optic disc, normal retinal vessels, atrophic retina outside the arcades" "3y" "" "Asymptomatic" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294398" "04214" "00401615" "00000" "Isolated (sporadic)" "37y" "Normal optic disc, narrow retinal vessels, retinal atrophy encroaching the fovea" "17y" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294399" "04214" "00401616" "00000" "Familial, autosomal recessive" "9y" "cochlear implant - Right ear 7 years, Left ear - 17 years, Normal optic disc, slightly narrowed vessels, RPE changes outside the arcades" "1y" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294400" "04214" "00401617" "00000" "Familial, autosomal recessive" "55y" "Areflexia, no cochlear implantSlightly waxy optic nerve, narrow retinal vessels, retinal atrophy encroaching the fovea in RE and involving the fovea in LE, Bronze-beaten appearance, few BSPs" "" "" "Night blindness" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294401" "04214" "00401618" "00000" "Isolated (sporadic)" "62y" "no cochlear implant, Waxy optic disc, narrow retinal vessels, atrophy encroaching the macula, BSPs" "" "" "Night blindness" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294402" "04214" "00401619" "00000" "Familial, autosomal recessive" "48y" "no cochlear implant, Slightly waxy optic disc, narrow retinal vessels, retinal atrophy encroaching the arcades, BSPs outside the arcades" "48y" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294403" "04214" "00401620" "00000" "Familial, autosomal recessive" "54y" "no cochlear implant, Waxy optic disc, narrow retinal vessels, diffuse retinal atrophy including pigmentary changes in the macula" "" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294404" "04214" "00401621" "00000" "Familial, autosomal recessive" "12y" "Both ears cochlear implant - 2.5 and 7.5 years, Normal optic disc, normal retinal vessels, retinal atrophy encroaching the arcades" "" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294405" "04214" "00401622" "00000" "Isolated (sporadic)" "31y" "Normal optic discNormal retinal vessels, retinal atrophy encroaching the macula" "" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294406" "04214" "00401623" "00000" "Isolated (sporadic)" "37y" "Normal optic disc, narrow blood vessels, atrophy involving the macula" "17y" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294407" "04214" "00401624" "00000" "Isolated (sporadic)" "39y" "Waxy optic disc, narrow retinal vessels, peripheral atrophy involving the macula" "39y" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294408" "04214" "00401625" "00000" "Familial, autosomal recessive" "3y" "Both ears cochlear implant - 8 months," "8m" "" "Photophobia" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294409" "04214" "00401626" "00000" "Familial, autosomal recessive" "12y" "Both ears cochlear implant - 1.5 and 10 years, Normal optic disc, normal retinal vessels, retinal atrophy outside the arcades" "1y6m" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000294410" "04214" "00401627" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa, patient had both vision abnormality and hearing loss" "" "" "" "" "" "" "" "" "" "Usher syndrome 1B" "" "0000294411" "04214" "00401628" "00000" "Familial, autosomal recessive" "" "only exhibited nonsyndromic hearing loss" "" "" "" "" "" "" "" "" "" "nonsyndromic hearing loss" "" "0000294412" "04214" "00401629" "00000" "Familial, autosomal recessive" "2y" "congenital nonsyndromic hearing loss" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000294413" "04214" "00401630" "00000" "Familial, autosomal recessive" "4y7m" "" "3y" "" "bilateral profound sensorineural hearing loss." "" "" "" "" "" "" "Usher syndrome" "" "0000294414" "04214" "00401631" "00000" "Familial, autosomal recessive" "" "deafness, vestibular dysfunction and retinitis pigmentosa" "" "" "The optical coherence tomography (OCT) presentations individuals exhibited cystoid macular edema, macular retinoschisis and retinal thinning" "" "" "" "" "" "" "Usher syndrome" "" "0000294415" "04214" "00401632" "00000" "Familial, autosomal recessive" "" "deafness, vestibular dysfunction and retinitis pigmentosa" "" "" "The optical coherence tomography (OCT) presentations individuals exhibited cystoid macular edema, macular retinoschisis and retinal thinning" "" "" "" "" "" "" "Usher syndrome" "" "0000294774" "00198" "00402011" "02551" "Unknown" "" "Hearing impairment (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "0000295932" "04214" "00403189" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295933" "04214" "00403190" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295934" "04214" "00403191" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295935" "04214" "00403192" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher II" "" "0000295936" "04214" "00403193" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295937" "04214" "00403194" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295938" "04214" "00403195" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295939" "04214" "00403196" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295940" "04214" "00403197" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295941" "04214" "00403198" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295942" "04214" "00403199" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295943" "04214" "00403200" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295944" "04214" "00403201" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295945" "04214" "00403202" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295946" "04214" "00403203" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295947" "04214" "00403204" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295948" "04214" "00403205" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295949" "04214" "00403206" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295950" "04214" "00403207" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295951" "04214" "00403208" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295952" "04214" "00403209" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295953" "04214" "00403210" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295954" "04214" "00403211" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295955" "04214" "00403212" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295956" "04214" "00403213" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295957" "04214" "00403214" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295958" "04214" "00403215" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295959" "04214" "00403216" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295960" "04214" "00403217" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295961" "04214" "00403218" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295962" "04214" "00403219" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295963" "04214" "00403220" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295964" "04214" "00403221" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Atypical Usher" "" "0000295965" "04214" "00403222" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295966" "04214" "00403223" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295967" "04214" "00403224" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295968" "04214" "00403225" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295969" "04214" "00403226" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295970" "04214" "00403227" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295971" "04214" "00403228" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295972" "04214" "00403229" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295973" "04214" "00403230" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295974" "04214" "00403231" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295975" "04214" "00403232" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295976" "04214" "00403233" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295977" "04214" "00403234" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher II/RP+hearing loss" "" "0000295978" "04214" "00403235" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000295979" "04214" "00403236" "00000" "Isolated (sporadic)" "16y" "sensorineural hearing loss (HP:0000407), retinitis pigmentosa (HP:0000510), vestibular impairment, musculoskeletal complaints, see paper…" "" "" "" "" "" "" "" "" "" "Usher I" "" "0000296025" "04214" "00403284" "00000" "Unknown" "37y" "dilated cardiomyopathy" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000307066" "04214" "00415268" "00000" "Familial, autosomal recessive" "" "OMIM: 276900; developmental delay and deafness" "" "" "" "" "" "" "" "" "Usher syndrome type 1B" "" "" "0000311663" "04214" "00420415" "00000" "Familial, autosomal recessive" "44y4m" "" "43y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000311815" "04214" "00420567" "00000" "Familial, autosomal recessive" "50y11m" "" "48y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000318082" "04214" "00426944" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000318699" "05415" "00427685" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "USH1B" "Usher syndrome" "" "0000319229" "05103" "00401634" "00006" "Familial, autosomal recessive" "" "bilateral profound hearing loss" "" "" "" "" "" "" "" "" "DFNB2" "hearing loss" "" "0000321536" "04214" "00430927" "04091" "Familial, autosomal recessive" "87y" "see paper" "" "" "" "" "" "" "" "" "USH4" "Usher syndrome" "" "0000321540" "04214" "00430931" "04091" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1385 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000002911" "00003005" "1" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" "" "0000034585" "00034514" "1" "01263" "00006" "2015-03-22 12:54:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000058989" "00059026" "1" "01542" "01542" "2016-02-15 21:33:20" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000059134" "00059158" "1" "01551" "01551" "2016-02-29 11:33:41" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059144" "00059166" "1" "01551" "01551" "2016-02-29 12:42:35" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059148" "00059167" "1" "01551" "01551" "2016-02-29 12:54:03" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059150" "00059168" "1" "01551" "01551" "2016-02-29 12:57:12" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059151" "00059169" "1" "01551" "01551" "2016-02-29 13:00:53" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059152" "00059170" "1" "01551" "01551" "2016-02-29 13:02:25" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059153" "00059171" "1" "01551" "01551" "2016-02-29 13:03:41" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059154" "00059172" "1" "01551" "01551" "2016-02-29 13:05:06" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059156" "00059173" "1" "01551" "01551" "2016-02-29 13:06:36" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059157" "00059174" "1" "01551" "01551" "2016-02-29 13:08:21" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000060218" "00060231" "1" "01542" "01542" "2016-03-14 13:37:10" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000060219" "00060232" "1" "01542" "01542" "2016-03-15 09:46:20" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000060223" "00060237" "1" "01542" "01542" "2016-03-15 13:28:22" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000060224" "00060238" "1" "01542" "01542" "2016-03-15 13:51:41" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000060278" "00060289" "1" "00006" "00006" "2016-03-27 21:01:21" "" "" "SEQ" "DNA" "" "" "0000060279" "00060290" "1" "00006" "00006" "2016-03-27 21:05:20" "" "" "SBE" "DNA" "" "" "0000060280" "00060291" "1" "00006" "00006" "2016-03-27 21:10:54" "" "" "SEQ" "DNA" "" "" "0000060282" "00060293" "1" "00006" "00006" "2016-03-28 09:08:57" "" "" "SEQ" "DNA" "" "" "0000080080" "00080002" "1" "01740" "01740" "2016-09-01 11:37:11" "" "" "SEQ-NG" "DNA" "" "" "0000080084" "00080006" "1" "01740" "01740" "2016-09-01 11:43:44" "" "" "SEQ-NG" "DNA" "" "" "0000080089" "00080011" "1" "01740" "01740" "2016-09-01 11:53:27" "" "" "SEQ-NG" "DNA" "" "" "0000080108" "00080029" "1" "01740" "01740" "2016-09-01 12:50:40" "" "" "SEQ-NG" "DNA" "" "" "0000080123" "00080044" "1" "01740" "01740" "2016-09-01 13:48:01" "" "" "SEQ-NG" "DNA" "" "" "0000080133" "00080054" "1" "01740" "01740" "2016-09-01 14:07:22" "" "" "SEQ-NG" "DNA" "" "" "0000080232" "00080138" "1" "01740" "01740" "2016-09-02 08:50:59" "" "" "SEQ-NG" "DNA" "" "" "0000080942" "00080830" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081016" "00080904" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000156362" "00155497" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156363" "00155498" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156364" "00155499" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156365" "00155500" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156366" "00155501" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156367" "00155502" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156368" "00155503" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156369" "00155504" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156370" "00155505" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000166582" "00165703" "1" "02417" "02417" "2014-12-11 15:15:46" "00110" "2014-12-11 15:17:11" "SEQ" "DNA" "" "" "0000167395" "00166516" "1" "02419" "02419" "2011-05-17 09:29:42" "00110" "2013-02-08 16:59:37" "SEQ" "DNA" "" "" "0000167397" "00166518" "1" "02416" "02416" "2011-05-25 13:48:57" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167398" "00166519" "1" "02416" "02416" "2011-05-25 14:15:24" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000167399" "00166520" "1" "02416" "02416" "2011-05-25 14:30:52" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000167470" "00166591" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167474" "00166595" "1" "02419" "02419" "2011-09-12 16:35:05" "00110" "2012-07-11 09:30:41" "SEQ" "DNA" "" "" "0000167475" "00166596" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167476" "00166597" "1" "02419" "02419" "2011-09-12 16:35:05" "00110" "2012-07-11 09:30:41" "SEQ" "DNA" "" "" "0000167477" "00166598" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167478" "00166599" "1" "02419" "02419" "2011-09-12 16:33:22" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167479" "00166600" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167480" "00166601" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167481" "00166602" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167485" "00166606" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000167486" "00166607" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167487" "00166608" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167488" "00166609" "1" "02419" "02419" "2011-09-12 16:33:22" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167490" "00166611" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167491" "00166612" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167493" "00166614" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167495" "00166616" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167496" "00166617" "1" "02419" "02419" "2011-09-12 16:35:05" "00110" "2012-07-11 09:30:41" "SEQ" "DNA" "" "" "0000167498" "00166619" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167499" "00166620" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167500" "00166621" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167503" "00166624" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2013-02-14 17:14:24" "SEQ" "DNA" "" "" "0000167504" "00166625" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000167505" "00166626" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167506" "00166627" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167507" "00166628" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167508" "00166629" "1" "02419" "02419" "2011-09-12 16:35:05" "00110" "2012-07-11 09:30:41" "SEQ" "DNA" "" "" "0000167510" "00166631" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2013-02-14 17:45:36" "SEQ" "DNA" "" "" "0000167511" "00166632" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167512" "00166633" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167513" "00166634" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167515" "00166636" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167517" "00166638" "1" "02419" "02419" "2011-09-12 16:35:05" "00110" "2012-07-11 09:30:41" "SEQ" "DNA" "" "" "0000167519" "00166640" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167520" "00166641" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167526" "00166647" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167527" "00166648" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167529" "00166650" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2013-02-14 17:38:04" "SEQ" "DNA" "" "" "0000167531" "00166652" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167532" "00166653" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167533" "00166654" "1" "02419" "02419" "2011-09-12 16:35:05" "00110" "2012-07-11 09:30:41" "SEQ" "DNA" "" "" "0000167536" "00166657" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167537" "00166658" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167538" "00166659" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2013-02-14 17:45:36" "SEQ" "DNA" "" "" "0000167541" "00166662" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167542" "00166663" "1" "02419" "02419" "2011-09-12 16:35:05" "00110" "2012-07-11 09:30:41" "SEQ" "DNA" "" "" "0000167545" "00166666" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167546" "00166667" "1" "02419" "02419" "2011-09-12 16:35:05" "00110" "2012-07-11 09:30:41" "SEQ" "DNA" "" "" "0000167547" "00166668" "1" "02419" "02419" "2011-09-12 16:35:05" "00110" "2012-07-11 09:30:41" "SEQ" "DNA" "" "" "0000167548" "00166669" "1" "02419" "02419" "2011-09-12 16:36:04" "00110" "2012-07-11 09:30:41" "SEQ" "DNA" "" "" "0000167549" "00166670" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167551" "00166672" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167553" "00166674" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167554" "00166675" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167555" "00166676" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167556" "00166677" "1" "02419" "02419" "2011-09-12 16:35:05" "00110" "2012-07-11 09:30:41" "SEQ" "DNA" "" "" "0000167559" "00166680" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167563" "00166684" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167567" "00166688" "1" "02419" "02419" "2011-09-12 16:36:04" "00110" "2012-07-11 09:30:41" "SEQ" "DNA" "" "" "0000167568" "00166689" "1" "02419" "02419" "2011-09-12 16:33:22" "00110" "2013-02-14 17:25:29" "SEQ" "DNA" "" "" "0000167570" "00166691" "1" "02419" "02419" "2011-09-12 16:35:05" "00110" "2012-07-11 09:30:41" "SEQ" "DNA" "" "" "0000167572" "00166693" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167573" "00166694" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167574" "00166695" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167575" "00166696" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167576" "00166697" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167577" "00166698" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167578" "00166699" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167581" "00166702" "1" "02419" "02419" "2011-09-12 16:33:22" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167584" "00166705" "1" "02419" "02419" "2011-09-12 16:33:22" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167585" "00166706" "1" "02419" "02419" "2011-09-12 16:36:04" "00110" "2012-07-11 09:30:41" "SEQ" "DNA" "" "" "0000167587" "00166708" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000167588" "00166709" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167591" "00166712" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167593" "00166714" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167595" "00166716" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167596" "00166717" "1" "02419" "02419" "2011-09-12 16:36:04" "00110" "2012-07-11 09:30:41" "SEQ" "DNA" "" "" "0000167597" "00166718" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167598" "00166719" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2013-02-14 17:23:14" "SEQ" "DNA" "" "" "0000167599" "00166720" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167601" "00166722" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2013-02-14 17:12:45" "SEQ" "DNA" "" "" "0000167602" "00166723" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167604" "00166725" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167608" "00166729" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167611" "00166732" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167612" "00166733" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167613" "00166734" "1" "02419" "02419" "2011-09-12 16:35:05" "00110" "2012-07-11 09:30:41" "SEQ" "DNA" "" "" "0000167614" "00166735" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167616" "00166737" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167621" "00166742" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167623" "00166744" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167624" "00166745" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167626" "00166747" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167627" "00166748" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167629" "00166750" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167630" "00166751" "1" "02419" "02419" "2011-09-12 16:36:04" "00110" "2013-02-14 16:45:25" "SEQ" "DNA" "" "" "0000167631" "00166752" "1" "02419" "02419" "2011-09-12 16:35:05" "00110" "2012-07-11 09:30:41" "SEQ" "DNA" "" "" "0000167632" "00166753" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167636" "00166757" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167637" "00166758" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167934" "00167055" "1" "02416" "02416" "2013-02-08 17:45:56" "00110" "2014-02-06 10:22:10" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168002" "00167123" "1" "02416" "02416" "2013-02-07 14:57:16" "00110" "2014-02-06 10:22:10" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168009" "00167130" "1" "02416" "02416" "2013-02-08 14:30:48" "00110" "2014-02-06 10:22:10" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168016" "00167137" "1" "02416" "02416" "2013-02-11 10:31:33" "00110" "2014-02-06 10:22:10" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168028" "00167149" "1" "02416" "02416" "2013-06-05 17:44:53" "00110" "2016-06-06 09:35:48" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168175" "00167296" "1" "02416" "02416" "2014-03-25 15:12:31" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168176" "00167297" "1" "02416" "02416" "2014-03-25 15:21:50" "" "" "SEQ" "DNA" "" "" "0000168185" "00167306" "1" "02416" "02416" "2014-03-25 15:37:07" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168320" "00167441" "1" "02416" "02416" "2014-08-04 11:55:33" "00110" "2014-08-04 11:57:51" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168321" "00167442" "1" "02416" "02416" "2014-08-04 14:53:08" "00110" "2014-08-04 14:54:07" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168322" "00167443" "1" "02416" "02416" "2014-08-04 15:55:38" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168541" "00167662" "1" "02416" "02416" "2015-02-09 14:42:26" "00110" "2015-02-09 15:05:57" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168542" "00167663" "1" "02416" "02416" "2015-02-09 14:48:09" "00110" "2015-02-09 15:05:57" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168550" "00167671" "1" "02416" "02416" "2015-02-09 16:33:35" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168560" "00167681" "1" "02416" "02416" "2015-02-10 17:02:05" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168562" "00167683" "1" "02416" "02416" "2015-02-11 15:52:38" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168563" "00167684" "1" "02416" "02416" "2015-02-11 16:04:17" "00110" "2016-05-30 18:09:35" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168570" "00167691" "1" "02416" "02416" "2015-02-10 17:53:38" "00110" "2015-02-10 17:54:18" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168653" "00167774" "1" "02428" "02428" "2016-06-06 10:40:39" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168914" "00168035" "1" "02430" "02430" "2018-02-25 20:00:17" "" "" "SEQ-NG-S" "DNA" "" "" "0000168990" "00168118" "1" "02418" "02418" "2010-03-01 11:27:50" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000168991" "00168119" "1" "02418" "02418" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000168992" "00168120" "1" "02418" "02418" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000168993" "00168121" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000168994" "00168122" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000168995" "00168123" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000168996" "00168124" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000168997" "00168125" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000168998" "00168126" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000168999" "00168127" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169000" "00168128" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169001" "00168129" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169002" "00168130" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169003" "00168131" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169004" "00168132" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169005" "00168133" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169006" "00168134" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169007" "00168135" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2011-08-22 10:58:09" "SEQ" "DNA" "" "" "0000169008" "00168136" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2011-08-22 10:58:09" "SEQ" "DNA" "" "" "0000169009" "00168137" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2011-08-22 10:58:09" "SEQ" "DNA" "" "" "0000169010" "00168138" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2011-08-22 10:58:09" "SEQ" "DNA" "" "" "0000169011" "00168139" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2011-08-22 10:58:09" "SEQ" "DNA" "" "" "0000169012" "00168140" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2011-08-22 10:58:09" "SEQ" "DNA" "" "" "0000169013" "00168141" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169014" "00168142" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169015" "00168143" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2012-04-06 16:32:21" "SEQ" "DNA" "" "" "0000169016" "00168144" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169017" "00168145" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169018" "00168146" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169019" "00168147" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169020" "00168148" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169021" "00168149" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2014-02-06 14:26:50" "SEQ" "DNA" "" "" "0000169022" "00168150" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-06-06 09:34:21" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000169023" "00168151" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169024" "00168152" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169025" "00168153" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169026" "00168154" "1" "02416" "02416" "2010-03-01 11:27:50" "00110" "2016-05-30 18:09:33" "minigene;SEQ" "DNA" "" "" "0000169027" "00168155" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169028" "00168156" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169029" "00168157" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169030" "00168158" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169031" "00168159" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169032" "00168160" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169033" "00168161" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169034" "00168162" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169035" "00168163" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169036" "00168164" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169037" "00168165" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169038" "00168166" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169039" "00168167" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "minigene;SEQ" "DNA" "" "" "0000169040" "00168168" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169041" "00168169" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169042" "00168170" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "minigene;SEQ" "DNA" "" "" "0000169043" "00168171" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169044" "00168172" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "minigene;SEQ" "DNA" "" "" "0000169045" "00168173" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2010-10-12 15:03:00" "SEQ" "DNA" "" "" "0000169046" "00168174" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169047" "00168175" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169048" "00168176" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169049" "00168177" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2017-08-14 17:00:59" "SEQ" "DNA" "" "" "0000169050" "00168178" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2017-08-14 17:00:59" "SEQ" "DNA" "" "" "0000169051" "00168179" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169052" "00168180" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169053" "00168181" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169054" "00168182" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169055" "00168183" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169056" "00168184" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2010-07-07 17:46:01" "SEQ" "DNA" "" "" "0000169057" "00168185" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169058" "00168186" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169059" "00168187" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169060" "00168188" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169061" "00168189" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169062" "00168190" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2010-12-30 15:45:06" "SEQ" "DNA" "" "" "0000169063" "00168191" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:30:44" "SEQ" "DNA" "" "" "0000169064" "00168192" "1" "02416" "02416" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169065" "00168193" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:29:12" "SEQ" "DNA" "" "" "0000169066" "00168194" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:29:12" "SEQ" "DNA" "" "" "0000169067" "00168195" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169068" "00168196" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169069" "00168197" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:30:44" "SEQ" "DNA" "" "" "0000169070" "00168198" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169071" "00168199" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169072" "00168200" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169073" "00168201" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:30:44" "SEQ" "DNA" "" "" "0000169074" "00168202" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:32:21" "SEQ" "DNA" "" "" "0000169075" "00168203" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:32:21" "SEQ" "DNA" "" "" "0000169076" "00168204" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:32:21" "SEQ" "DNA" "" "" "0000169077" "00168205" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:32:21" "SEQ" "DNA" "" "" "0000169078" "00168206" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:32:21" "SEQ" "DNA" "" "" "0000169079" "00168207" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169080" "00168208" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169081" "00168209" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169082" "00168210" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169083" "00168211" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169084" "00168212" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169085" "00168213" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169086" "00168214" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169087" "00168215" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169088" "00168216" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169089" "00168217" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169090" "00168218" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169091" "00168219" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169092" "00168220" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169093" "00168221" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2017-08-14 16:44:24" "SEQ" "DNA" "" "" "0000169094" "00168222" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2017-08-14 16:44:24" "SEQ" "DNA" "" "" "0000169095" "00168223" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2017-08-14 16:44:24" "SEQ" "DNA" "" "" "0000169096" "00168224" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2017-08-14 16:44:24" "SEQ" "DNA" "" "" "0000169097" "00168225" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2017-08-14 16:44:24" "SEQ" "DNA" "" "" "0000169098" "00168226" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2017-08-14 16:44:24" "SEQ" "DNA" "" "" "0000169099" "00168227" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2017-08-14 16:44:24" "SEQ" "DNA" "" "" "0000169100" "00168228" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2017-08-14 16:44:24" "SEQ" "DNA" "" "" "0000169101" "00168229" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2017-08-14 16:44:24" "SEQ" "DNA" "" "" "0000169102" "00168230" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2017-08-14 16:44:24" "SEQ" "DNA" "" "" "0000169103" "00168231" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2017-08-14 16:44:24" "SEQ" "DNA" "" "" "0000169104" "00168232" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2017-08-14 16:44:24" "SEQ" "DNA" "" "" "0000169105" "00168233" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2017-08-14 16:44:24" "SEQ" "DNA" "" "" "0000169106" "00168234" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2017-08-14 16:44:24" "SEQ" "DNA" "" "" "0000169107" "00168235" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2017-08-14 16:44:24" "SEQ" "DNA" "" "" "0000169108" "00168236" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2017-08-14 16:44:24" "SEQ" "DNA" "" "" "0000169109" "00168237" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:32:21" "SEQ" "DNA" "" "" "0000169110" "00168238" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:32:21" "SEQ" "DNA" "" "" "0000169111" "00168239" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:32:21" "SEQ" "DNA" "" "" "0000169112" "00168240" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:32:21" "SEQ" "DNA" "" "" "0000169113" "00168241" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:32:21" "SEQ" "DNA" "" "" "0000169114" "00168242" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:32:21" "SEQ" "DNA" "" "" "0000169115" "00168243" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:32:21" "SEQ" "DNA" "" "" "0000169116" "00168244" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:32:21" "SEQ" "DNA" "" "" "0000169117" "00168245" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169118" "00168246" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169119" "00168247" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169120" "00168248" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169121" "00168249" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169122" "00168250" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169123" "00168251" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169124" "00168252" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169125" "00168253" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169126" "00168254" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169127" "00168255" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169128" "00168256" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169129" "00168257" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:30:44" "SEQ" "DNA" "" "" "0000169130" "00168258" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:30:44" "SEQ" "DNA" "" "" "0000169131" "00168259" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:30:44" "SEQ" "DNA" "" "" "0000169132" "00168260" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169133" "00168261" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169134" "00168262" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2011-08-22 10:58:09" "SEQ" "DNA" "" "" "0000169135" "00168263" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169136" "00168264" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169137" "00168265" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169138" "00168266" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169139" "00168267" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169140" "00168268" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169141" "00168269" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169142" "00168270" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169143" "00168271" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169144" "00168272" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169145" "00168273" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169146" "00168274" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2017-08-04 16:21:01" "SEQ" "DNA" "" "" "0000169147" "00168275" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2017-08-04 16:21:01" "SEQ" "DNA" "" "" "0000169148" "00168276" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169149" "00168277" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169150" "00168278" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169151" "00168279" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169152" "00168280" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169153" "00168281" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169154" "00168282" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169155" "00168283" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:30:20" "SEQ" "DNA" "" "" "0000169156" "00168284" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169157" "00168285" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:30:20" "SEQ" "DNA" "" "" "0000169158" "00168286" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:30:20" "SEQ" "DNA" "" "" "0000169159" "00168287" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169160" "00168288" "1" "02416" "02416" "2013-03-14 10:22:17" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000169161" "00168289" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169162" "00168290" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169163" "00168291" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169164" "00168292" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169165" "00168293" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169166" "00168294" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169167" "00168295" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169168" "00168296" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169169" "00168297" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2010-07-07 17:46:01" "SEQ" "DNA" "" "" "0000169170" "00168298" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2010-07-07 17:46:01" "SEQ" "DNA" "" "" "0000169171" "00168299" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2010-07-07 17:46:01" "SEQ" "DNA" "" "" "0000169172" "00168300" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2010-07-07 17:46:01" "SEQ" "DNA" "" "" "0000169173" "00168301" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169174" "00168302" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2010-07-07 17:46:01" "SEQ" "DNA" "" "" "0000169175" "00168303" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169176" "00168304" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169177" "00168305" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169178" "00168306" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169179" "00168307" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169180" "00168308" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2012-04-06 16:30:44" "SEQ" "DNA" "" "" "0000169181" "00168309" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169182" "00168310" "1" "02417" "02417" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169183" "00168311" "1" "02417" "02417" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169184" "00168312" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2010-12-30 14:50:16" "SEQ" "DNA" "" "" "0000169185" "00168313" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "minigene;RT-PCR;SEQ" "DNA" "" "" "0000169186" "00168314" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169187" "00168315" "1" "02417" "02417" "2010-03-01 11:27:52" "00110" "2013-03-13 16:41:34" "SEQ" "DNA" "" "" "0000169188" "00168316" "1" "02417" "02417" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "minigene;RT-PCR;SEQ" "DNA" "" "" "0000169189" "00168317" "1" "02417" "02417" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169190" "00168318" "1" "02417" "02417" "2010-03-01 11:27:52" "00110" "2013-03-13 16:26:14" "SEQ" "DNA" "" "" "0000169191" "00168319" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "minigene;SEQ" "DNA" "" "" "0000169192" "00168320" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169193" "00168321" "1" "02417" "02417" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169194" "00168322" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "minigene;SEQ" "DNA" "" "" "0000169195" "00168323" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169196" "00168324" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169197" "00168325" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2014-03-13 16:11:20" "minigene;SEQ" "DNA" "" "" "0000169198" "00168326" "1" "02417" "02417" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169199" "00168327" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169200" "00168328" "1" "02417" "02417" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169201" "00168329" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169202" "00168330" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2017-08-14 16:44:24" "minigene;RT-PCR;SEQ" "DNA" "" "" "0000169203" "00168331" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169204" "00168332" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169205" "00168333" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169206" "00168334" "1" "02417" "02417" "2014-12-10 16:43:27" "" "" "SEQ" "DNA" "" "" "0000169207" "00168335" "1" "02417" "02417" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169208" "00168336" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169209" "00168337" "1" "02417" "02417" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169210" "00168338" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169211" "00168339" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "minigene;SEQ" "DNA" "" "" "0000169212" "00168340" "1" "02417" "02417" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169213" "00168341" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2012-04-06 16:27:47" "SEQ" "DNA" "" "" "0000169214" "00168342" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2012-04-06 16:27:47" "SEQ" "DNA" "" "" "0000169215" "00168343" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169216" "00168344" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169217" "00168345" "1" "02417" "02417" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169218" "00168346" "1" "02417" "02417" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169219" "00168347" "1" "02417" "02417" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169220" "00168348" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169221" "00168349" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "minigene;SEQ" "DNA" "" "" "0000169222" "00168350" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "minigene;SEQ" "DNA" "" "" "0000169223" "00168351" "1" "02417" "02417" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "minigene;SEQ" "DNA" "" "" "0000169224" "00168352" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169225" "00168353" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169226" "00168354" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169227" "00168355" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169228" "00168356" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169229" "00168357" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169230" "00168358" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169231" "00168359" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169232" "00168360" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169233" "00168361" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169234" "00168362" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169235" "00168363" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169236" "00168364" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169237" "00168365" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169238" "00168366" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169239" "00168367" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169240" "00168368" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169241" "00168369" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169242" "00168370" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169243" "00168371" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169244" "00168372" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169245" "00168373" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169246" "00168374" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169247" "00168375" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169248" "00168376" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169249" "00168377" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:30:44" "SEQ" "DNA" "" "" "0000169250" "00168378" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:30:44" "SEQ" "DNA" "" "" "0000169251" "00168379" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-08-05 16:01:49" "SEQ" "DNA" "" "" "0000169252" "00168380" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-08-05 16:01:49" "SEQ" "DNA" "" "" "0000169253" "00168381" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169254" "00168382" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169255" "00168383" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169256" "00168384" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169257" "00168385" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169258" "00168386" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169259" "00168387" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169260" "00168388" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169261" "00168389" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169262" "00168390" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169263" "00168391" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169264" "00168392" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2011-08-19 15:17:33" "SEQ" "DNA" "" "" "0000169265" "00168393" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2011-08-19 15:17:33" "SEQ" "DNA" "" "" "0000169266" "00168394" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2010-07-07 17:46:01" "SEQ" "DNA" "" "" "0000169267" "00168395" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169268" "00168396" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169269" "00168397" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169270" "00168398" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:29:29" "SEQ" "DNA" "" "" "0000169271" "00168399" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:29:29" "SEQ" "DNA" "" "" "0000169272" "00168400" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169273" "00168401" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169274" "00168402" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169275" "00168403" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169276" "00168404" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2014-11-04 17:28:30" "SEQ" "DNA" "" "" "0000169277" "00168405" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169278" "00168406" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169279" "00168407" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169280" "00168408" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169281" "00168409" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169282" "00168410" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169283" "00168411" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2014-11-04 17:28:30" "SEQ" "DNA" "" "" "0000169284" "00168412" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2014-11-04 17:28:30" "SEQ" "DNA" "" "" "0000169285" "00168413" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169286" "00168414" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169287" "00168415" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169288" "00168416" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169289" "00168417" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169290" "00168418" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169291" "00168419" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169292" "00168420" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2017-08-04 16:21:01" "SEQ" "DNA" "" "" "0000169293" "00168421" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169294" "00168422" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169295" "00168423" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169296" "00168424" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169297" "00168425" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2012-04-06 16:29:46" "SEQ" "DNA" "" "" "0000169298" "00168426" "1" "02418" "02418" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169299" "00168427" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169300" "00168428" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169301" "00168429" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169302" "00168430" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169303" "00168431" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169304" "00168432" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169305" "00168433" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169306" "00168434" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169307" "00168435" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169308" "00168436" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169309" "00168437" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:30:20" "SEQ" "DNA" "" "" "0000169310" "00168438" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169311" "00168439" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169312" "00168440" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169313" "00168441" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:29:46" "SEQ" "DNA" "" "" "0000169314" "00168442" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:30:44" "SEQ" "DNA" "" "" "0000169315" "00168443" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2010-07-07 17:46:01" "SEQ" "DNA" "" "" "0000169316" "00168444" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169317" "00168445" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169318" "00168446" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169319" "00168447" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169320" "00168448" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:28:56" "SEQ" "DNA" "" "" "0000169321" "00168449" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:25:14" "SEQ" "DNA" "" "" "0000169322" "00168450" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169323" "00168451" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:30:03" "SEQ" "DNA" "" "" "0000169324" "00168452" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169325" "00168453" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2010-07-07 17:46:01" "SEQ" "DNA" "" "" "0000169326" "00168454" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2010-07-07 17:46:01" "SEQ" "DNA" "" "" "0000169327" "00168455" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2010-07-07 17:46:01" "SEQ" "DNA" "" "" "0000169328" "00168456" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2010-07-07 17:46:01" "SEQ" "DNA" "" "" "0000169329" "00168457" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2010-07-07 17:46:01" "SEQ" "DNA" "" "" "0000169330" "00168458" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2010-07-07 17:46:01" "SEQ" "DNA" "" "" "0000169331" "00168459" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169332" "00168460" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:04:48" "SEQ" "DNA" "" "" "0000169333" "00168461" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:25:14" "SEQ" "DNA" "" "" "0000169334" "00168462" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169335" "00168463" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169336" "00168464" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169337" "00168465" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169338" "00168466" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2010-07-07 17:46:01" "SEQ" "DNA" "" "" "0000169339" "00168467" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169340" "00168468" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2011-05-25 11:49:54" "SEQ" "DNA" "" "" "0000169341" "00168469" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:25:14" "SEQ" "DNA" "" "" "0000169342" "00168470" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169343" "00168471" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:29:29" "SEQ" "DNA" "" "" "0000169344" "00168472" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2010-12-30 14:26:23" "SEQ" "DNA" "" "" "0000169345" "00168473" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2010-12-30 14:26:07" "SEQ" "DNA" "" "" "0000169346" "00168474" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169347" "00168475" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2010-07-07 17:46:01" "SEQ" "DNA" "" "" "0000169348" "00168476" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169349" "00168477" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:04:48" "SEQ" "DNA" "" "" "0000169350" "00168478" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169351" "00168479" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169352" "00168480" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2011-08-22 10:58:09" "SEQ" "DNA" "" "" "0000169353" "00168481" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169354" "00168482" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169355" "00168483" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169356" "00168484" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169357" "00168485" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169358" "00168486" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169359" "00168487" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2012-04-06 16:30:20" "SEQ" "DNA" "" "" "0000169360" "00168488" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169362" "00168490" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169363" "00168491" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169364" "00168492" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169365" "00168493" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169366" "00168494" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2010-07-07 17:46:01" "SEQ" "DNA" "" "" "0000169367" "00168495" "1" "02416" "02416" "2010-03-01 11:27:51" "00110" "2010-07-07 17:46:01" "SEQ" "DNA" "" "" "0000169368" "00168496" "1" "02416" "02416" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169369" "00168497" "1" "02416" "02416" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169370" "00168498" "1" "02416" "02416" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169371" "00168499" "1" "02416" "02416" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169372" "00168500" "1" "02416" "02416" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "minigene;SEQ" "DNA" "" "" "0000169373" "00168501" "1" "02416" "02416" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169374" "00168502" "1" "02416" "02416" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169375" "00168503" "1" "02416" "02416" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169378" "00168506" "1" "02416" "02416" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "minigene;SEQ" "DNA" "" "" "0000169379" "00168507" "1" "02416" "02416" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "minigene;SEQ" "DNA" "" "" "0000169380" "00168508" "1" "02416" "02416" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169381" "00168509" "1" "02416" "02416" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169382" "00168510" "1" "02416" "02416" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169383" "00168511" "1" "02416" "02416" "2010-03-01 11:27:52" "00110" "2010-10-14 14:54:27" "SEQ" "DNA" "" "" "0000169387" "00168515" "1" "02416" "02416" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169388" "00168516" "1" "02416" "02416" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169389" "00168517" "1" "02417" "02417" "2010-03-01 11:27:52" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169512" "00168640" "1" "02416" "02416" "2010-03-19 10:47:50" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169513" "00168641" "1" "02416" "02416" "2010-03-19 17:48:03" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169514" "00168642" "1" "02416" "02416" "2010-03-22 12:17:53" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169518" "00168646" "1" "02416" "02416" "2010-09-28 11:48:44" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169519" "00168647" "1" "02416" "02416" "2010-10-12 15:07:26" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169520" "00168648" "1" "02416" "02416" "2010-10-12 16:25:46" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169521" "00168649" "1" "02416" "02416" "2010-10-13 11:11:07" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169522" "00168650" "1" "02416" "02416" "2010-10-14 11:58:13" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169523" "00168651" "1" "02416" "02416" "2010-10-14 15:14:38" "00110" "2014-02-06 14:26:50" "SEQ" "DNA" "" "" "0000169524" "00168652" "1" "02416" "02416" "2010-10-14 16:45:39" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169525" "00168653" "1" "02416" "02416" "2010-10-14 16:49:15" "00110" "2014-02-06 14:26:50" "SEQ" "DNA" "" "" "0000169526" "00168654" "1" "02416" "02416" "2010-10-14 16:51:01" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169527" "00168655" "1" "02416" "02416" "2010-10-14 17:40:05" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169528" "00168656" "1" "02416" "02416" "2010-10-15 15:24:15" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000169530" "00168658" "1" "02416" "02416" "2010-10-28 15:03:30" "00110" "2017-08-04 16:21:01" "SEQ" "DNA" "" "" "0000169531" "00168659" "1" "02416" "02416" "2010-10-28 15:46:23" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169532" "00168660" "1" "02416" "02416" "2010-10-28 15:51:05" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169533" "00168661" "1" "02416" "02416" "2010-10-28 16:43:21" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169534" "00168662" "1" "02416" "02416" "2010-11-02 14:10:24" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169535" "00168663" "1" "02416" "02416" "2010-11-02 14:26:45" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169537" "00168665" "1" "02416" "02416" "2010-12-28 15:09:38" "00110" "2016-05-30 18:09:34" "minigene;RT-PCR;SEQ" "DNA" "" "" "0000169539" "00168667" "1" "02416" "02416" "2011-02-08 16:56:15" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX" "0000169540" "00168668" "1" "02416" "02416" "2011-03-24 11:12:03" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169541" "00168669" "1" "02416" "02416" "2011-03-24 11:17:05" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169542" "00168670" "1" "02416" "02416" "2011-03-24 11:21:20" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169543" "00168671" "1" "02416" "02416" "2011-03-24 11:22:17" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169544" "00168672" "1" "02416" "02416" "2011-03-29 09:48:40" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169545" "00168673" "1" "02416" "02416" "2011-03-29 15:23:24" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169546" "00168674" "1" "02416" "02416" "2011-03-29 15:25:16" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169547" "00168675" "1" "02416" "02416" "2011-03-29 15:27:01" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169548" "00168676" "1" "02416" "02416" "2011-03-29 15:43:15" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169549" "00168677" "1" "02416" "02416" "2011-03-29 15:44:49" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169550" "00168678" "1" "02416" "02416" "2011-03-29 15:48:14" "00110" "2016-05-30 18:09:34" "SEQ" "DNA" "" "" "0000169553" "00168681" "1" "02416" "02416" "2011-05-25 11:40:45" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169554" "00168682" "1" "02416" "02416" "2011-05-25 11:44:04" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000169555" "00168683" "1" "02416" "02416" "2011-05-25 11:47:17" "00110" "2012-04-06 16:30:20" "SEQ" "DNA" "" "" "0000169556" "00168684" "1" "02416" "02416" "2011-05-25 11:50:12" "" "" "SEQ" "DNA" "" "" "0000169557" "00168685" "1" "02416" "02416" "2011-05-25 11:55:56" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169558" "00168686" "1" "02416" "02416" "2011-05-25 12:10:29" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000169559" "00168687" "1" "02416" "02416" "2011-05-25 12:19:30" "00110" "2012-04-06 16:30:20" "SEQ" "DNA" "" "" "0000169560" "00168688" "1" "02416" "02416" "2011-05-25 13:54:36" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169561" "00168689" "1" "02416" "02416" "2011-05-25 14:45:10" "00110" "2012-04-06 16:30:45" "SEQ" "DNA" "" "" "0000169562" "00168690" "1" "02416" "02416" "2011-05-25 14:52:23" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000169563" "00168691" "1" "02416" "02416" "2011-05-25 17:58:39" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000169564" "00168692" "1" "02416" "02416" "2011-05-25 18:13:09" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000169565" "00168693" "1" "02416" "02416" "2011-05-25 18:18:33" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000169566" "00168694" "1" "02416" "02416" "2011-05-25 19:06:16" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000169568" "00168696" "1" "02416" "02416" "2011-07-20 09:16:49" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX" "0000169569" "00168697" "1" "02416" "02416" "2011-07-20 14:18:06" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX" "0000169570" "00168698" "1" "02416" "02416" "2011-07-20 14:19:41" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX" "0000169571" "00168699" "1" "02419" "02419" "2011-09-12 16:34:31" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000169572" "00168700" "1" "02419" "02419" "2011-09-12 16:34:31" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000169573" "00168701" "1" "02419" "02419" "2011-09-12 16:34:31" "00110" "2012-07-11 09:30:41" "SEQ" "DNA" "" "" "0000169574" "00168702" "1" "02419" "02419" "2011-09-12 16:34:31" "00110" "2013-02-14 17:04:03" "SEQ" "DNA" "" "" "0000169575" "00168703" "1" "02419" "02419" "2011-09-12 16:34:31" "00110" "2012-07-11 09:30:41" "SEQ" "DNA" "" "" "0000169576" "00168704" "1" "02419" "02419" "2011-09-12 16:34:31" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000169577" "00168705" "1" "02419" "02419" "2011-09-12 16:34:31" "00110" "2013-02-14 17:51:07" "SEQ" "DNA" "" "" "0000169578" "00168706" "1" "02419" "02419" "2011-09-12 16:34:31" "00110" "2013-02-14 16:59:10" "SEQ" "DNA" "" "" "0000169582" "00168710" "1" "02416" "02416" "2012-02-08 17:15:18" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169583" "00168711" "1" "02416" "02416" "2012-02-08 17:21:22" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169584" "00168712" "1" "02416" "02416" "2012-02-08 17:22:40" "00110" "2012-04-06 16:26:16" "SEQ" "DNA" "" "" "0000169585" "00168713" "1" "02416" "02416" "2012-03-16 10:33:56" "00110" "2016-05-30 18:09:35" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169586" "00168714" "1" "02416" "02416" "2012-03-16 16:17:15" "00110" "2016-05-30 18:09:35" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169587" "00168715" "1" "02416" "02416" "2012-07-23 10:27:04" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX" "0000169588" "00168716" "1" "02416" "02416" "2012-07-23 15:42:40" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX" "0000169589" "00168717" "1" "02416" "02416" "2012-07-23 15:57:59" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX" "0000169590" "00168718" "1" "02416" "02416" "2012-07-23 16:02:10" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX" "0000169591" "00168719" "1" "02416" "02416" "2012-07-23 16:06:18" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX" "0000169592" "00168720" "1" "02416" "02416" "2012-07-23 16:23:31" "" "" "SEQ" "DNA" "" "" "0000169593" "00168721" "1" "02416" "02416" "2012-07-23 16:24:46" "" "" "SEQ" "DNA" "" "" "0000169594" "00168722" "1" "02416" "02416" "2012-07-23 16:25:38" "" "" "SEQ" "DNA" "" "" "0000169595" "00168723" "1" "02416" "02416" "2012-07-23 16:26:31" "" "" "SEQ" "DNA" "" "" "0000169596" "00168724" "1" "02416" "02416" "2012-08-31 15:58:35" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169597" "00168725" "1" "02416" "02416" "2013-01-09 17:30:41" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000169598" "00168726" "1" "02416" "02416" "2013-01-09 17:36:52" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000169600" "00168728" "1" "02416" "02416" "2013-02-07 14:23:37" "00110" "2014-02-06 10:22:10" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169601" "00168729" "1" "02416" "02416" "2013-02-07 14:50:15" "00110" "2014-03-13 16:12:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169602" "00168730" "1" "02416" "02416" "2013-02-11 11:59:57" "00110" "2014-02-06 10:22:10" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169603" "00168731" "1" "02416" "02416" "2013-02-11 12:36:58" "00110" "2014-02-06 10:22:10" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169604" "00168732" "1" "02416" "02416" "2013-04-08 15:55:00" "" "" "SEQ" "DNA" "" "" "0000169605" "00168733" "1" "02416" "02416" "2013-06-05 16:30:02" "00110" "2016-06-06 09:35:48" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169606" "00168734" "1" "02416" "02416" "2013-06-05 16:36:47" "00110" "2016-06-06 09:35:48" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169607" "00168735" "1" "02416" "02416" "2013-06-26 17:57:59" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169612" "00168740" "1" "02416" "02416" "2013-08-20 13:49:54" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169613" "00168741" "1" "02416" "02416" "2013-08-20 13:51:08" "00110" "2013-08-20 13:51:51" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169614" "00168742" "1" "00143" "00143" "2014-01-30 15:05:24" "00110" "2014-10-28 12:37:07" "SEQ-NG-S" "DNA" "" "" "0000169615" "00168743" "1" "00143" "00143" "2014-01-30 15:08:09" "00110" "2016-05-30 18:09:35" "SEQ-NG-S" "DNA" "" "" "0000169616" "00168744" "1" "00143" "00143" "2014-01-30 15:13:43" "00110" "2016-05-30 18:09:35" "SEQ-NG-S" "DNA" "" "" "0000169617" "00168745" "1" "02416" "02416" "2014-02-07 16:26:27" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169618" "00168746" "1" "02416" "02416" "2014-02-07 16:29:20" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169619" "00168747" "1" "02416" "02416" "2014-02-25 10:19:27" "" "" "SEQ" "DNA" "" "" "0000169620" "00168748" "1" "02416" "02416" "2014-02-25 10:22:59" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000169621" "00168749" "1" "02416" "02416" "2014-03-20 14:57:06" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169622" "00168750" "1" "02416" "02416" "2014-03-20 15:03:20" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169623" "00168751" "1" "02416" "02416" "2014-03-20 15:11:38" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169624" "00168752" "1" "02416" "02416" "2014-03-21 09:31:05" "00110" "2016-05-30 18:09:35" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169625" "00168753" "1" "02416" "02416" "2014-03-21 09:32:28" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169626" "00168754" "1" "02416" "02416" "2014-08-01 11:40:10" "00110" "2016-05-30 18:09:35" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169627" "00168755" "1" "02416" "02416" "2014-08-01 11:41:58" "00110" "2016-05-30 18:09:35" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169628" "00168756" "1" "02416" "02416" "2014-08-01 11:44:19" "00110" "2016-05-30 18:09:35" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169629" "00168757" "1" "02416" "02416" "2014-08-05 10:01:10" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169630" "00168758" "1" "00764" "00764" "2014-08-08 16:18:00" "00110" "2014-10-30 11:31:07" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169631" "00168759" "1" "00764" "00764" "2014-08-08 16:24:21" "00110" "2014-10-30 11:32:18" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169632" "00168760" "1" "00764" "00764" "2014-08-08 16:29:12" "00110" "2014-10-30 11:40:47" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169633" "00168761" "1" "02423" "02423" "2014-10-07 16:24:12" "00110" "2016-05-09 09:07:48" "SEQ" "DNA" "" "" "0000169634" "00168762" "1" "00764" "00764" "2014-10-30 11:34:21" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000169635" "00168763" "1" "00764" "00764" "2014-10-30 11:42:44" "" "" "SEQ" "DNA" "" "" "0000169636" "00168764" "1" "00764" "00764" "2014-10-30 11:43:48" "" "" "SEQ" "DNA" "" "" "0000169637" "00168765" "1" "02416" "02416" "2014-11-26 16:10:17" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000169638" "00168766" "1" "02416" "02416" "2014-11-26 16:11:40" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000169639" "00168767" "1" "02416" "02416" "2014-11-26 16:12:50" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000169640" "00168768" "1" "02416" "02416" "2014-12-10 15:24:27" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169641" "00168769" "1" "02416" "02416" "2014-12-10 16:08:58" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169642" "00168770" "1" "02416" "02416" "2014-12-10 16:21:44" "00110" "2016-05-30 18:04:48" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169643" "00168771" "1" "02416" "02416" "2014-12-10 17:14:27" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169644" "00168772" "1" "02416" "02416" "2014-12-10 17:21:15" "00110" "2016-05-30 18:09:35" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169645" "00168773" "1" "02416" "02416" "2014-12-11 09:08:59" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169646" "00168774" "1" "02416" "02416" "2014-12-11 09:26:11" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169647" "00168775" "1" "02416" "02416" "2015-02-09 09:56:59" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000169648" "00168776" "1" "02416" "02416" "2015-02-09 10:04:39" "" "" "SEQ" "DNA" "" "" "0000169649" "00168777" "1" "02416" "02416" "2015-02-09 10:45:16" "" "" "SEQ" "DNA" "" "" "0000169650" "00168778" "1" "02416" "02416" "2015-02-09 10:53:21" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169651" "00168779" "1" "02416" "02416" "2015-02-09 10:58:33" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000169652" "00168780" "1" "02416" "02416" "2015-02-09 11:07:48" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000169653" "00168781" "1" "02416" "02416" "2015-02-09 11:14:14" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000169654" "00168782" "1" "02416" "02416" "2015-02-09 15:28:18" "00110" "2016-05-30 18:09:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169655" "00168783" "1" "02416" "02416" "2015-02-10 15:34:44" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169656" "00168784" "1" "02416" "02416" "2015-02-10 15:41:58" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169657" "00168785" "1" "02416" "02416" "2015-02-10 17:07:29" "00110" "2016-05-30 18:09:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169658" "00168786" "1" "00110" "00110" "2015-02-10 17:17:21" "00110" "2016-05-30 18:09:35" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169659" "00168787" "1" "02416" "02416" "2015-02-10 17:21:01" "00110" "2016-05-30 18:09:35" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169660" "00168788" "1" "02416" "02416" "2015-02-10 17:26:40" "00110" "2016-05-30 18:09:35" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169661" "00168789" "1" "02416" "02416" "2015-02-10 17:37:31" "00110" "2016-05-30 18:09:35" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169662" "00168790" "1" "02416" "02416" "2015-02-10 17:38:46" "00110" "2016-05-30 18:09:35" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169663" "00168791" "1" "02416" "02416" "2015-02-12 14:33:30" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169664" "00168792" "1" "02416" "02416" "2015-02-12 14:36:29" "00110" "2016-05-30 18:09:35" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169665" "00168793" "1" "02416" "02416" "2015-02-20 15:48:32" "" "" "PCRq;SEQ;SEQ-NG-S" "DNA" "" "" "0000169666" "00168794" "1" "02416" "02416" "2015-02-20 15:52:04" "" "" "SEQ" "DNA" "" "" "0000169667" "00168795" "1" "02416" "02416" "2015-09-21 17:52:32" "00110" "2016-05-30 18:09:35" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169668" "00168796" "1" "02416" "02416" "2015-09-22 09:19:55" "00110" "2015-09-22 09:20:47" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169669" "00168797" "1" "02416" "02416" "2015-09-22 09:23:34" "00110" "2016-05-30 18:09:35" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169670" "00168798" "1" "02416" "02416" "2015-09-22 09:29:45" "00110" "2015-09-22 09:55:23" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169671" "00168799" "1" "02416" "02416" "2015-09-22 09:42:34" "00110" "2017-08-14 16:44:25" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169672" "00168800" "1" "02416" "02416" "2015-09-22 09:57:26" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169673" "00168801" "1" "02416" "02416" "2015-09-22 10:02:14" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169674" "00168802" "1" "02416" "02416" "2015-09-25 16:56:50" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169675" "00168803" "1" "02416" "02416" "2015-09-25 17:08:06" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169676" "00168804" "1" "02416" "02416" "2015-10-06 11:05:14" "00110" "2015-10-06 11:06:01" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169677" "00168805" "1" "02416" "02416" "2016-01-20 17:46:51" "00006" "2019-02-14 13:10:47" "PE;PCRdig;SEQ" "DNA" "" "APEX" "0000169678" "00168806" "1" "02416" "02416" "2016-01-20 17:48:45" "00006" "2019-02-14 13:10:47" "PE;PCRdig;SEQ" "DNA" "" "APEX" "0000169679" "00168807" "1" "02416" "02416" "2016-01-20 17:49:57" "00006" "2019-02-14 13:10:47" "PE;PCRdig;SEQ" "DNA" "" "APEX" "0000169680" "00168808" "1" "02416" "02416" "2016-01-20 17:50:56" "00006" "2019-02-14 13:10:47" "PE;PCRdig;SEQ" "DNA" "" "APEX" "0000169681" "00168809" "1" "02416" "02416" "2016-01-20 17:51:56" "00006" "2019-02-14 13:10:47" "PE;PCRdig;SEQ" "DNA" "" "APEX" "0000169682" "00168810" "1" "02416" "02416" "2016-01-20 17:53:13" "00006" "2019-02-14 13:10:47" "PE;PCRdig;SEQ" "DNA" "" "APEX" "0000169683" "00168811" "1" "02416" "02416" "2016-01-20 17:54:31" "00006" "2019-02-14 13:10:47" "PE;PCRdig;SEQ" "DNA" "" "APEX" "0000169684" "00168812" "1" "02416" "02416" "2016-01-20 17:55:49" "00006" "2019-02-14 13:10:47" "PE;PCRdig;SEQ" "DNA" "" "APEX" "0000169685" "00168813" "1" "02416" "02416" "2016-01-20 17:57:14" "00006" "2019-02-14 13:10:47" "PE;PCRdig;SEQ" "DNA" "" "APEX" "0000169686" "00168814" "1" "02416" "02416" "2016-01-20 17:59:06" "00006" "2019-02-14 13:10:47" "PE;PCRdig;SEQ" "DNA" "" "APEX" "0000169687" "00168815" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169688" "00168816" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169689" "00168817" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169690" "00168818" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169691" "00168819" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169692" "00168820" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169693" "00168821" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169694" "00168822" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169695" "00168823" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169696" "00168824" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2017-08-14 17:00:59" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169697" "00168825" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169698" "00168826" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169699" "00168827" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169700" "00168828" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169701" "00168829" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169702" "00168830" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169703" "00168831" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169704" "00168832" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169705" "00168833" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169706" "00168834" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169707" "00168835" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169708" "00168836" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169709" "00168837" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169710" "00168838" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169711" "00168839" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169712" "00168840" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169713" "00168841" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169714" "00168842" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169715" "00168843" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169716" "00168844" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169717" "00168845" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169718" "00168846" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169719" "00168847" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169720" "00168848" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169721" "00168849" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169722" "00168850" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S;PCRq" "DNA" "" "" "0000169723" "00168851" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S;PCRq" "DNA" "" "" "0000169724" "00168852" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169725" "00168853" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169726" "00168854" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169727" "00168855" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169728" "00168856" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169729" "00168857" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169730" "00168858" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169731" "00168859" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169732" "00168860" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169733" "00168861" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169734" "00168862" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169735" "00168863" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2017-08-14 17:00:59" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169736" "00168864" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169737" "00168865" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169738" "00168866" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169739" "00168867" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169740" "00168868" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169741" "00168869" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169742" "00168870" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169743" "00168871" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169744" "00168872" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169745" "00168873" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169746" "00168874" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169747" "00168875" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169748" "00168876" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S;PCRq" "DNA" "" "" "0000169749" "00168877" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169750" "00168878" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2017-08-14 17:00:59" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169751" "00168879" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169752" "00168880" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169753" "00168881" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169754" "00168882" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169755" "00168883" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169756" "00168884" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169757" "00168885" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2017-08-14 16:44:25" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169758" "00168886" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169759" "00168887" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169760" "00168888" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169761" "00168889" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169762" "00168890" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169763" "00168891" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169764" "00168892" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169765" "00168893" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169766" "00168894" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169767" "00168895" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169768" "00168896" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169769" "00168897" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169770" "00168898" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169771" "00168899" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169772" "00168900" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169773" "00168901" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169774" "00168902" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169775" "00168903" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169776" "00168904" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169777" "00168905" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169778" "00168906" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S;PCRq" "DNA" "" "" "0000169779" "00168907" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169780" "00168908" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169781" "00168909" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169782" "00168910" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169783" "00168911" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169784" "00168912" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169785" "00168913" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169786" "00168914" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169787" "00168915" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169788" "00168916" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169789" "00168917" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169790" "00168918" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169791" "00168919" "1" "02428" "02428" "2016-05-26 15:53:44" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169792" "00168920" "1" "02428" "02428" "2016-05-25 14:28:14" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169793" "00168921" "1" "02428" "02428" "2016-08-08 17:03:46" "" "" "SEQ" "DNA" "" "" "0000169794" "00168922" "1" "02428" "02428" "2016-08-08 17:05:43" "" "" "SEQ" "DNA" "" "" "0000169795" "00168923" "1" "02428" "02428" "2016-08-08 17:06:55" "" "" "SEQ" "DNA" "" "" "0000169796" "00168924" "1" "02428" "02428" "2016-08-08 17:08:06" "" "" "SEQ" "DNA" "" "" "0000169797" "00168925" "1" "02428" "02428" "2016-08-08 17:09:04" "" "" "SEQ" "DNA" "" "" "0000169798" "00168926" "1" "02428" "02428" "2016-08-08 17:11:25" "" "" "SEQ" "DNA" "" "" "0000169799" "00168927" "1" "02416" "02416" "2016-10-10 10:07:13" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169800" "00168928" "1" "02416" "02416" "2016-10-10 10:08:38" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169801" "00168929" "1" "02416" "02416" "2017-08-14 16:43:33" "00110" "2017-12-06 10:05:13" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169802" "00168930" "1" "02416" "02416" "2017-08-14 16:47:01" "00110" "2017-12-06 10:05:13" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169803" "00168931" "1" "02416" "02416" "2017-08-14 16:54:50" "00110" "2017-12-06 10:05:13" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169804" "00168932" "1" "02416" "02416" "2017-08-14 16:59:55" "00110" "2017-12-06 10:05:13" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169805" "00168933" "1" "02416" "02416" "2017-08-14 17:09:31" "00110" "2017-12-06 10:05:13" "SEQ;SEQ-NG-S" "DNA" "" "" "0000169806" "00168934" "1" "02430" "02430" "2018-02-22 21:45:31" "" "" "SEQ-NG-S" "DNA" "" "" "0000169807" "00168935" "1" "02430" "02430" "2018-02-23 19:24:34" "" "" "SEQ-NG-S" "DNA" "" "" "0000169808" "00168936" "1" "02430" "02430" "2018-02-23 19:31:41" "" "" "SEQ-NG-S" "DNA" "" "" "0000169809" "00168937" "1" "02430" "02430" "2018-02-24 18:58:06" "" "" "SEQ-NG-S" "DNA" "" "" "0000169810" "00168938" "1" "02430" "02430" "2018-02-25 20:34:13" "" "" "SEQ-NG-S" "DNA" "" "" "0000169811" "00168939" "1" "02430" "02430" "2018-02-25 20:41:14" "" "" "SEQ-NG-S" "DNA" "" "" "0000169812" "00168940" "1" "02430" "02430" "2018-02-25 20:45:17" "" "" "SEQ-NG-S" "DNA" "" "" "0000241559" "00240449" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000265082" "00263969" "1" "01807" "01807" "2019-09-02 18:38:16" "" "" "SEQ" "DNA" "" "" "0000276847" "00275693" "1" "01741" "01741" "2020-01-17 12:14:46" "00110" "2020-01-17 17:28:07" "SEQ" "DNA" "" "" "0000277232" "00276088" "1" "00006" "00006" "2020-01-26 21:36:22" "" "" "SEQ" "DNA" "" "" "0000291703" "00290535" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291704" "00290536" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291705" "00290537" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291706" "00290538" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291707" "00290539" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291708" "00290540" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291709" "00290541" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291710" "00290542" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291711" "00290543" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291712" "00290544" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291713" "00290545" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291715" "00290547" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296300" "00295132" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296423" "00295255" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000300750" "00299640" "1" "00006" "00006" "2020-04-18 08:53:03" "00006" "2020-04-18 08:55:30" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000305450" "00304321" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305451" "00304322" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308048" "00306911" "1" "03388" "00006" "2020-07-23 09:08:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308452" "00307310" "1" "01164" "01164" "2020-08-10 12:21:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000309667" "00308522" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309668" "00308523" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309761" "00308616" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000310370" "00309225" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310371" "00309226" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310372" "00309227" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310373" "00309228" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310374" "00309229" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310375" "00309230" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310376" "00309231" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310377" "00309232" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310378" "00309233" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310379" "00309234" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310380" "00309235" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310381" "00309236" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310382" "00309237" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310383" "00309238" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310384" "00309239" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310701" "00309556" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000310714" "00309569" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000310715" "00309570" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000310720" "00309575" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000310721" "00309576" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000310729" "00309584" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000310731" "00309586" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000310732" "00309587" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000310733" "00309588" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000310749" "00309604" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000310756" "00309611" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000311007" "00309863" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315943" "00314769" "1" "00006" "00006" "2020-10-18 12:29:15" "" "" "SEQ;SEQ-NG" "DNA" "" "180-gene panel" "0000315944" "00314770" "1" "00006" "00006" "2020-10-18 12:29:15" "" "" "SEQ;SEQ-NG" "DNA" "" "180-gene panel" "0000315945" "00314771" "1" "00006" "00006" "2020-10-18 12:29:15" "" "" "SEQ;SEQ-NG" "DNA" "" "180-gene panel" "0000325588" "00324398" "1" "00006" "00006" "2020-12-11 13:44:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000326691" "00325480" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000328596" "00327384" "1" "03611" "03611" "2021-01-20 09:14:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000329205" "00327990" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329207" "00327992" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329208" "00327993" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329210" "00327995" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329211" "00327996" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329291" "00328076" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329336" "00328121" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329379" "00328164" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329723" "00328508" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000332525" "00331306" "1" "00000" "00006" "2021-02-11 11:56:16" "" "" "SEQ" "DNA" "" "" "0000332824" "00331605" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332825" "00331606" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332826" "00331607" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000332827" "00331608" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332828" "00331609" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000332829" "00331610" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000332830" "00331611" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000332831" "00331612" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332832" "00331613" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000332833" "00331614" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332841" "00331622" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332842" "00331623" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332843" "00331624" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332848" "00331629" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000332849" "00331630" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000332850" "00331631" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000332919" "00331700" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000332926" "00331707" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000333657" "00332433" "1" "00000" "00006" "2021-02-19 11:58:15" "" "" "SEQ-NG" "DNA" "" "11-gene panel" "0000333658" "00332434" "1" "00000" "00006" "2021-02-19 11:58:15" "" "" "SEQ-NG" "DNA" "" "11-gene panel" "0000333662" "00332438" "1" "00000" "00006" "2021-02-19 11:58:15" "" "" "SEQ-NG" "DNA" "" "11-gene panel" "0000333667" "00332443" "1" "00000" "00006" "2021-02-19 11:58:15" "" "" "SEQ-NG" "DNA" "" "11-gene panel" "0000333668" "00332444" "1" "00000" "00006" "2021-02-19 11:58:15" "" "" "SEQ-NG" "DNA" "" "11-gene panel" "0000333723" "00332499" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" "" "0000334653" "00333428" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel" "0000334873" "00333647" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000335075" "00333849" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335233" "00334007" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335234" "00334008" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335235" "00334009" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335236" "00334010" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335237" "00334011" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335238" "00334012" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000336478" "00335249" "1" "00000" "00006" "2021-03-04 14:06:09" "" "" "SEQ-NG" "DNA" "" "212-gene panel" "0000336506" "00335277" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000337071" "00335841" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "SEQ-NG" "DNA" "" "gene panel USH" "0000337072" "00335842" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "SEQ-NG" "DNA" "" "gene panel USH" "0000337073" "00335843" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "SEQ-NG" "DNA" "" "gene panel USH" "0000337074" "00335844" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "PE" "DNA" "" "" "0000337075" "00335845" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "PE" "DNA" "" "" "0000337076" "00335846" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "PE" "DNA" "" "" "0000337080" "00335850" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "SEQ" "DNA" "" "" "0000337081" "00335851" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "PE" "DNA" "" "" "0000337083" "00335853" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "SEQ" "DNA" "" "" "0000337085" "00335855" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "PE" "DNA" "" "" "0000337090" "00335860" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "PE" "DNA" "" "" "0000337091" "00335861" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "PE" "DNA" "" "" "0000337092" "00335862" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "PE" "DNA" "" "" "0000337093" "00335863" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "PE" "DNA" "" "" "0000337094" "00335864" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "PE" "DNA" "" "" "0000337095" "00335865" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "PE" "DNA" "" "" "0000337096" "00335866" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "SEQ-NG" "DNA" "" "gene panel USH" "0000337097" "00335867" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "SEQ-NG" "DNA" "" "gene panel USH" "0000337210" "00335980" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360056" "00358826" "1" "00000" "00006" "2021-03-14 09:54:57" "" "" "SEQ" "DNA" "" "" "0000360057" "00358827" "1" "00000" "00006" "2021-03-14 09:54:57" "" "" "SEQ" "DNA" "" "" "0000360317" "00359079" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360482" "00359244" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360486" "00359248" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360490" "00359252" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360496" "00359258" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000362998" "00361770" "1" "02404" "02404" "2021-04-10 10:32:35" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000363003" "00361775" "1" "02404" "02404" "2021-04-10 10:46:54" "" "" "SEQ-NG-IT" "DNA" "" "Exome sequencing" "0000363006" "00361778" "1" "02404" "02404" "2021-04-10 10:54:48" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000363007" "00361779" "1" "02404" "02404" "2021-04-10 11:07:48" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000363008" "00361780" "1" "02404" "02404" "2021-04-10 11:16:32" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000363009" "00361781" "1" "02404" "02404" "2021-04-10 11:24:25" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000363010" "00361782" "1" "02404" "02404" "2021-04-10 11:36:26" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000363011" "00361783" "1" "02404" "02404" "2021-04-10 11:46:09" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000363012" "00361784" "1" "02404" "02404" "2021-04-10 11:58:29" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000363013" "00361785" "1" "02404" "02404" "2021-04-10 12:08:47" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000363014" "00361786" "1" "02404" "02404" "2021-04-10 12:23:50" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000363015" "00361787" "1" "02404" "02404" "2021-04-10 12:37:19" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000363016" "00361788" "1" "02404" "02404" "2021-04-10 12:45:16" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000364422" "00363194" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364423" "00363195" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364424" "00363196" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364425" "00363197" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364426" "00363198" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364427" "00363199" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364428" "00363200" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ" "DNA" "" "" "0000364429" "00363201" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364430" "00363202" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ" "DNA" "" "" "0000364431" "00363203" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364432" "00363204" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364433" "00363205" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364434" "00363206" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ" "DNA" "" "" "0000364435" "00363207" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364436" "00363208" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364437" "00363209" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364438" "00363210" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364439" "00363211" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ" "DNA" "" "" "0000364440" "00363212" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364441" "00363213" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364442" "00363214" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364443" "00363215" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364461" "00363233" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364462" "00363234" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364463" "00363235" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364464" "00363236" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364465" "00363237" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ" "DNA" "" "" "0000364909" "00363681" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373748" "00372515" "1" "00006" "00006" "2021-05-08 11:01:57" "" "" "SEQ" "DNA" "" "" "0000373752" "00372519" "1" "00006" "00006" "2021-05-08 11:34:03" "" "" "SEQ-NG" "DNA" "" "" "0000373913" "00372681" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000374636" "00373401" "1" "00000" "00006" "2021-05-14 15:17:31" "" "" "SEQ-NG" "DNA" "" "WES" "0000374639" "00373404" "1" "00000" "00006" "2021-05-14 15:17:31" "" "" "SEQ-NG" "DNA" "" "WES" "0000375050" "00373818" "1" "00000" "00006" "2021-05-21 12:20:36" "" "" "arraySEQ" "DNA" "" "Asper" "0000375076" "00373844" "1" "00000" "00006" "2021-05-21 13:56:05" "" "" "SEQ-NG" "DNA" "" "86-gene panel" "0000375232" "00374000" "1" "02404" "02404" "2021-05-21 19:29:08" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000375233" "00374001" "1" "02404" "02404" "2021-05-21 19:39:38" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000375234" "00374002" "1" "02404" "02404" "2021-05-21 19:48:06" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000376461" "00375266" "1" "02404" "02404" "2021-06-02 12:50:54" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000376548" "00375351" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel" "0000376630" "00375433" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000380982" "00379779" "1" "03508" "03508" "2021-08-09 10:13:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000381048" "00379846" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "panel of 441 hereditary eye disease genes including 291 genes related to IRD" "0000381049" "00379847" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "panel of 441 hereditary eye disease genes including 291 genes related to IRD" "0000381347" "00380145" "1" "00000" "03840" "2021-08-10 09:47:12" "" "" "SEQ-NG" "DNA" "" "322 eye disease gene panel" "0000381409" "00380207" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000381414" "00380212" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000381415" "00380213" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000382047" "00380833" "1" "00000" "03840" "2021-08-23 12:17:56" "" "" "SEQ-NG-I" "DNA" "blood" "AmpliSeqTM Inherited Disease Panel covering 325 genes" "0000383779" "00382565" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383780" "00382566" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383781" "00382567" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383782" "00382568" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383783" "00382569" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000384817" "00383592" "1" "00000" "03840" "2021-09-29 12:08:45" "" "" "?" "DNA" "" "" "0000384819" "00383594" "1" "00000" "03840" "2021-09-29 12:08:45" "" "" "?" "DNA" "" "" "0000384821" "00383596" "1" "00000" "03840" "2021-09-29 12:08:45" "" "" "?" "DNA" "" "" "0000384825" "00383600" "1" "00000" "03840" "2021-09-29 12:08:45" "" "" "?" "DNA" "" "" "0000384834" "00383609" "1" "00000" "03840" "2021-09-29 12:08:45" "" "" "?" "DNA" "" "" "0000384836" "00383611" "1" "00000" "03840" "2021-09-29 12:08:45" "" "" "?" "DNA" "" "" "0000385452" "00384227" "1" "00000" "03840" "2021-09-29 13:17:59" "" "" "SEQ-NG;SEQ" "DNA" "blood" "panel containing 168 deafness genes" "0000385453" "00384228" "1" "00000" "03840" "2021-09-29 13:17:59" "" "" "SEQ-NG;SEQ" "DNA" "blood" "panel containing 168 deafness genes" "0000385863" "00384635" "1" "00000" "03840" "2021-10-04 12:47:36" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000386378" "00385149" "1" "00000" "03840" "2021-10-08 17:29:22" "" "" "SEQ-NG-I" "DNA" "" "176 genes panel" "0000388106" "00386878" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388111" "00386883" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388118" "00386890" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388184" "00386958" "1" "02416" "02416" "2021-10-28 13:55:02" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388187" "00386961" "1" "02416" "02416" "2021-10-28 13:58:01" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388189" "00386963" "1" "02416" "02416" "2021-10-28 13:58:59" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388190" "00386964" "1" "02416" "02416" "2021-10-28 13:59:01" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388192" "00386966" "1" "02416" "02416" "2021-10-28 13:59:06" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388193" "00386967" "1" "02416" "02416" "2021-10-28 13:59:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388197" "00386971" "1" "02416" "02416" "2021-10-28 13:59:18" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388198" "00386972" "1" "02416" "02416" "2021-10-28 13:59:20" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388337" "00387111" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388338" "00387112" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388339" "00387113" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388340" "00387114" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388341" "00387115" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388370" "00387144" "1" "02416" "02416" "2021-10-28 14:00:16" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388374" "00387148" "1" "02416" "02416" "2021-10-28 14:00:26" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388391" "00387165" "1" "02416" "02416" "2021-10-28 14:01:42" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388394" "00387168" "1" "02416" "02416" "2021-10-28 14:01:49" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388404" "00387178" "1" "02416" "02416" "2021-10-28 14:02:14" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388406" "00387180" "1" "02416" "02416" "2021-10-28 14:02:19" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388414" "00387188" "1" "02416" "02416" "2021-10-28 14:02:38" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388417" "00387191" "1" "02416" "02416" "2021-10-28 14:02:46" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388419" "00387193" "1" "02416" "02416" "2021-10-28 14:02:52" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388424" "00387198" "1" "02416" "02416" "2021-10-28 14:03:43" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388427" "00387201" "1" "02416" "02416" "2021-10-28 14:04:17" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388428" "00387202" "1" "02416" "02416" "2021-10-28 14:04:23" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388436" "00387210" "1" "02416" "02416" "2021-10-28 14:04:49" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388439" "00387213" "1" "02416" "02416" "2021-10-28 14:04:57" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388445" "00387219" "1" "02416" "02416" "2021-10-28 14:05:13" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388446" "00387220" "1" "02416" "02416" "2021-10-28 14:05:16" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388451" "00387225" "1" "02416" "02416" "2021-10-28 14:05:28" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388452" "00387226" "1" "02416" "02416" "2021-10-28 14:05:30" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388456" "00387230" "1" "02416" "02416" "2021-10-28 14:05:42" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388458" "00387232" "1" "02416" "02416" "2021-10-28 14:05:47" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388461" "00387235" "1" "02416" "02416" "2021-10-28 14:05:53" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388463" "00387237" "1" "02416" "02416" "2021-10-28 14:06:01" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388465" "00387239" "1" "02416" "02416" "2021-10-28 14:06:06" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388466" "00387240" "1" "02416" "02416" "2021-10-28 14:06:09" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388467" "00387241" "1" "02416" "02416" "2021-10-28 14:06:16" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388468" "00387242" "1" "02416" "02416" "2021-10-28 14:06:22" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388469" "00387243" "1" "02416" "02416" "2021-10-28 14:06:26" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388474" "00387248" "1" "02416" "02416" "2021-10-28 14:06:57" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388477" "00387251" "1" "02416" "02416" "2021-10-28 14:07:06" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388480" "00387254" "1" "02416" "02416" "2021-10-28 14:07:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388484" "00387258" "1" "02416" "02416" "2021-10-28 14:07:49" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388493" "00387267" "1" "02416" "02416" "2021-10-28 14:08:15" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388495" "00387269" "1" "02416" "02416" "2021-10-28 14:08:19" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388496" "00387270" "1" "02416" "02416" "2021-10-28 14:08:21" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388503" "00387277" "1" "02416" "02416" "2021-10-28 14:08:38" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388504" "00387278" "1" "02416" "02416" "2021-10-28 14:08:40" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388507" "00387281" "1" "02416" "02416" "2021-10-28 14:08:47" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388509" "00387283" "1" "02416" "02416" "2021-10-28 14:08:51" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388517" "00387291" "1" "02416" "02416" "2021-10-28 14:09:10" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388519" "00387293" "1" "02416" "02416" "2021-10-28 14:09:17" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388520" "00387294" "1" "02416" "02416" "2021-10-28 14:09:19" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388525" "00387299" "1" "02416" "02416" "2021-10-28 14:09:32" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388528" "00387302" "1" "02416" "02416" "2021-10-28 14:09:39" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388530" "00387304" "1" "02416" "02416" "2021-10-28 14:09:44" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388531" "00387305" "1" "02416" "02416" "2021-10-28 14:09:46" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388533" "00387307" "1" "02416" "02416" "2021-10-28 14:09:50" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388541" "00387316" "1" "02416" "02416" "2021-10-28 14:10:18" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388550" "00387325" "1" "02416" "02416" "2021-10-28 14:10:37" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388555" "00387330" "1" "02416" "02416" "2021-10-28 14:10:53" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388559" "00387334" "1" "02416" "02416" "2021-10-28 14:11:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388564" "00387339" "1" "02416" "02416" "2021-10-28 14:16:01" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388565" "00387340" "1" "02416" "02416" "2021-10-28 14:17:02" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388566" "00387341" "1" "02416" "02416" "2021-10-28 14:18:01" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388568" "00387343" "1" "02416" "02416" "2021-10-28 14:20:01" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388569" "00387344" "1" "02416" "02416" "2021-10-28 14:21:01" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388570" "00387345" "1" "02416" "02416" "2021-10-28 14:22:01" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388572" "00387347" "1" "02416" "02416" "2021-10-28 14:22:09" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388573" "00387348" "1" "02416" "02416" "2021-10-28 14:22:12" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388574" "00387349" "1" "02416" "02416" "2021-10-28 14:22:14" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388575" "00387350" "1" "02416" "02416" "2021-10-28 14:22:17" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388576" "00387351" "1" "02416" "02416" "2021-10-28 14:22:19" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388578" "00387353" "1" "02416" "02416" "2021-10-28 14:22:25" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388579" "00387354" "1" "02416" "02416" "2021-10-28 14:22:27" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388580" "00387355" "1" "02416" "02416" "2021-10-28 14:22:30" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388581" "00387356" "1" "02416" "02416" "2021-10-28 14:22:32" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388582" "00387357" "1" "02416" "02416" "2021-10-28 14:22:35" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000389798" "00388556" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000389799" "00388557" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000390034" "00388791" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET1 targeted sequencing panel - see paper" "0000390045" "00388802" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000390082" "00388839" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390085" "00388842" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390104" "00388861" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000390118" "00388875" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390125" "00388882" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390134" "00388891" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390515" "00389272" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390556" "00389313" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390649" "00389406" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000391552" "00390311" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391553" "00390312" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391554" "00390313" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391555" "00390314" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391556" "00390315" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391557" "00390316" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391558" "00390317" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391559" "00390318" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000392050" "00390809" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "PCR;SEQ-NG;SEQ" "DNA" "blood" "WES" "0000392051" "00390810" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "PCR;SEQ-NG;SEQ" "DNA" "blood" "WES" "0000392612" "00391370" "1" "00000" "03840" "2021-11-15 18:02:17" "" "" "SEQ-NG" "DNA" "" "retrospective case note review, targeted gene panel testing" "0000392821" "00391579" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000393843" "00392596" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000393885" "00392638" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000393901" "00392654" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000393911" "00392664" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000393926" "00392679" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000394873" "00393625" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395169" "00393921" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" "" "0000395170" "00393922" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" "" "0000395171" "00393923" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" "" "0000395172" "00393924" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" "" "0000395173" "00393925" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" "" "0000395174" "00393926" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" "" "0000395175" "00393927" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "arraySNP;SEQ-NG" "DNA" "blood" "WES" "0000395176" "00393928" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" "" "0000395177" "00393929" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" "" "0000395178" "00393930" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "arraySNP;SEQ-NG" "DNA" "blood" "WES" "0000395179" "00393931" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "arraySNP" "DNA" "blood" "SNP-mutation screen" "0000395180" "00393932" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" "" "0000395181" "00393933" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000395182" "00393934" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "arraySNP;SEQ-NG" "DNA" "blood" "WES" "0000395183" "00393935" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "arraySNP;SEQ-NG" "DNA" "blood" "WES" "0000395184" "00393936" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" "" "0000395185" "00393937" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" "" "0000395186" "00393938" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" "" "0000395187" "00393939" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000395946" "00394699" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395947" "00394700" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395948" "00394701" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395949" "00394702" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395950" "00394703" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395951" "00394704" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395952" "00394705" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395953" "00394706" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395954" "00394707" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395955" "00394708" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395956" "00394709" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395957" "00394710" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395958" "00394711" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000397021" "00395782" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397031" "00395792" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397200" "00395961" "1" "00000" "03840" "2021-12-09 15:06:13" "" "" "SEQ-NG" "DNA" "blood" "retrospective study" "0000397201" "00395962" "1" "00000" "03840" "2021-12-09 15:06:13" "" "" "SEQ-NG" "DNA" "blood" "retrospective study" "0000397450" "00396209" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG" "DNA" "" "" "0000397452" "00396211" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG" "DNA" "" "" "0000397460" "00396219" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "arraySNP" "DNA" "" "" "0000397469" "00396228" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG" "DNA" "" "" "0000397470" "00396229" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "arraySNP;SEQ-NG" "DNA" "" "" "0000397473" "00396232" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397474" "00396233" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397475" "00396234" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397476" "00396235" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397477" "00396236" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397478" "00396237" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397479" "00396238" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397502" "00396261" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397503" "00396262" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397504" "00396263" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397505" "00396264" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397506" "00396265" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397507" "00396266" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397508" "00396267" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397529" "00396288" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397530" "00396289" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397531" "00396290" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397532" "00396291" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397660" "00396419" "1" "00006" "00006" "2021-12-15 14:29:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000397716" "00396473" "1" "00000" "03840" "2021-12-16 12:35:05" "" "" "SEQ-NG-I" "DNA" "blood" "panel of 254 genes implicated in retinopathies" "0000397722" "00396479" "1" "00000" "03840" "2021-12-16 12:35:05" "" "" "SEQ-NG-I" "DNA" "blood" "panel of 254 genes implicated in retinopathies" "0000400971" "00399728" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000400972" "00399729" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000400973" "00399730" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000400974" "00399731" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000400975" "00399732" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000400976" "00399733" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000400977" "00399734" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000400980" "00399737" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000400981" "00399738" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000400982" "00399739" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000400983" "00399740" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ" "DNA" "blood" "" "0000400984" "00399741" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000400985" "00399742" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000400986" "00399743" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ" "DNA" "blood" "" "0000400987" "00399744" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ" "DNA" "blood" "" "0000400988" "00399745" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000400989" "00399746" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000400990" "00399747" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000400991" "00399748" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000400992" "00399749" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000400993" "00399750" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ" "DNA" "blood" "" "0000400994" "00399751" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "WES" "0000400995" "00399752" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "WES" "0000400996" "00399753" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ" "DNA" "blood" "WES" "0000400997" "00399754" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ" "DNA" "blood" "WES" "0000400998" "00399755" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ" "DNA" "blood" "" "0000400999" "00399756" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ" "DNA" "blood" "" "0000401000" "00399757" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ" "DNA" "blood" "" "0000401001" "00399758" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ" "DNA" "blood" "" "0000401002" "00399759" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ" "DNA" "blood" "" "0000401003" "00399760" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ" "DNA" "blood" "" "0000401004" "00399761" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ" "DNA" "blood" "" "0000401005" "00399762" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ" "DNA" "blood" "" "0000401006" "00399763" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ" "DNA" "blood" "" "0000401007" "00399764" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ" "DNA" "blood" "" "0000401008" "00399765" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ" "DNA" "blood" "" "0000401009" "00399766" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ" "DNA" "blood" "" "0000401010" "00399767" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ" "DNA" "blood" "" "0000401011" "00399768" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ" "DNA" "blood" "" "0000401012" "00399769" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ" "DNA" "blood" "" "0000401013" "00399770" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ" "DNA" "blood" "" "0000401014" "00399771" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000401015" "00399772" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000402817" "00401574" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402818" "00401575" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402819" "00401576" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402820" "00401577" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402821" "00401578" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402822" "00401579" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402823" "00401580" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402824" "00401581" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402825" "00401582" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402826" "00401583" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402827" "00401584" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402828" "00401585" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402829" "00401586" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402830" "00401587" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402831" "00401588" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402832" "00401589" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402833" "00401590" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402834" "00401591" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402835" "00401592" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402836" "00401593" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402837" "00401594" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402838" "00401595" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402839" "00401596" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402840" "00401597" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402841" "00401598" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402842" "00401599" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402843" "00401600" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402844" "00401601" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402845" "00401602" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402846" "00401603" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402847" "00401604" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402848" "00401605" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402849" "00401606" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402850" "00401607" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402851" "00401608" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402852" "00401609" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402853" "00401610" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402854" "00401611" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402855" "00401612" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402856" "00401613" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402857" "00401614" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402858" "00401615" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402859" "00401616" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402860" "00401617" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402861" "00401618" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402862" "00401619" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402863" "00401620" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402864" "00401621" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402865" "00401622" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402866" "00401623" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402867" "00401624" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402868" "00401625" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402869" "00401626" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "?" "DNA" "" "" "0000402870" "00401627" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "SEQ;PCR;SEQ-NG" "DNA" "blood" "" "0000402871" "00401628" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "SEQ;PCR;SEQ-NG" "DNA" "blood" "" "0000402872" "00401629" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "SEQ;PCR;SEQ-NG" "DNA" "blood" "" "0000402873" "00401630" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "SEQ;PCR;SEQ-NG" "DNA;RNA" "blood" "" "0000402874" "00401631" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "SEQ;PCR;SEQ-NG" "DNA;RNA" "blood" "" "0000402875" "00401632" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "SEQ;PCR;SEQ-NG" "DNA;RNA" "blood" "" "0000402877" "00401634" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "SEQ;PCR;SEQ-NG" "DNA" "blood" "" "0000403252" "00402011" "1" "02551" "02551" "2022-02-04 09:51:01" "" "" "SEQ" "DNA" "" "" "0000404430" "00403189" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404431" "00403190" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404432" "00403191" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404433" "00403192" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404434" "00403193" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404435" "00403194" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404436" "00403195" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404437" "00403196" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404438" "00403197" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404439" "00403198" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404440" "00403199" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404441" "00403200" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404442" "00403201" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404443" "00403202" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404444" "00403203" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404445" "00403204" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404446" "00403205" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404447" "00403206" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404448" "00403207" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404449" "00403208" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404450" "00403209" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404451" "00403210" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404452" "00403211" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404453" "00403212" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404454" "00403213" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404455" "00403214" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404456" "00403215" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404457" "00403216" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404458" "00403217" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404459" "00403218" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404460" "00403219" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404461" "00403220" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404462" "00403221" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404463" "00403222" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404464" "00403223" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404465" "00403224" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404466" "00403225" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404467" "00403226" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404468" "00403227" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404469" "00403228" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404470" "00403229" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404471" "00403230" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404472" "00403231" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404473" "00403232" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404474" "00403233" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404475" "00403234" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404476" "00403235" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "?" "DNA" "" "" "0000404477" "00403236" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000404525" "00403284" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ-NG" "DNA" "" "" "0000416550" "00415268" "1" "00000" "03840" "2022-08-10 20:39:58" "" "" "SEQ-NG" "DNA" "" "exome sequencing done at a commercial CAPaccredited laboratory" "0000421724" "00420415" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421876" "00420567" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000428264" "00426944" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000429008" "00427685" "1" "00006" "00006" "2022-12-12 11:11:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432338" "00430927" "1" "04091" "00006" "2023-01-25 13:11:03" "" "" "SEQ-NG" "DNA" "" "WGS" "0000432342" "00430931" "1" "04091" "00006" "2023-01-25 13:11:03" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 439 "{{screeningid}}" "{{geneid}}" "0000002911" "MYO7A" "0000034585" "MYO7A" "0000059134" "MYO7A" "0000059144" "MYO7A" "0000059148" "MYO7A" "0000059150" "MYO7A" "0000059151" "MYO7A" "0000059152" "MYO7A" "0000059153" "MYO7A" "0000059154" "MYO7A" "0000059156" "MYO7A" "0000059157" "MYO7A" "0000060278" "MYO7A" "0000060279" "MYO7A" "0000060280" "MYO7A" "0000060282" "MYO7A" "0000080942" "MYO7A" "0000081016" "MYO7A" "0000156362" "MYO7A" "0000156363" "MYO7A" "0000156364" "MYO7A" "0000156365" "MYO7A" "0000156366" "MYO7A" "0000156367" "MYO7A" "0000156368" "MYO7A" "0000156369" "MYO7A" "0000156370" "MYO7A" "0000241559" "MYO7A" "0000276847" "MYO7A" "0000277232" "MYO7A" "0000300750" "ARHGEF18" "0000308048" "MYO7A" "0000309667" "MYO7A" "0000309668" "MYO7A" "0000309761" "MYO7A" "0000310370" "MYO7A" "0000310371" "MYO7A" "0000310372" "MYO7A" "0000310373" "MYO7A" "0000310374" "MYO7A" "0000310375" "MYO7A" "0000310376" "MYO7A" "0000310377" "MYO7A" "0000310378" "MYO7A" "0000310379" "MYO7A" "0000310380" "MYO7A" "0000310381" "MYO7A" "0000310382" "MYO7A" "0000310383" "MYO7A" "0000310384" "MYO7A" "0000310701" "MYO7A" "0000310714" "MYO7A" "0000310715" "MYO7A" "0000310720" "MYO7A" "0000310721" "MYO7A" "0000310729" "MYO7A" "0000310731" "MYO7A" "0000310732" "MYO7A" "0000310733" "MYO7A" "0000310749" "MYO7A" "0000310756" "MYO7A" "0000315943" "MYO7A" "0000315944" "MYO7A" "0000315945" "MYO7A" "0000325588" "WHSC1" "0000326691" "MYO7A" "0000329205" "MYO7A" "0000329207" "MYO7A" "0000329208" "MYO7A" "0000329210" "MYO7A" "0000329211" "MYO7A" "0000329291" "MYO7A" "0000329336" "MYO7A" "0000329379" "MYO7A" "0000329723" "MYO7A" "0000332525" "MYO7A" "0000332824" "MYO7A" "0000332825" "MYO7A" "0000332826" "MYO7A" "0000332827" "MYO7A" "0000332828" "MYO7A" "0000332829" "MYO7A" "0000332830" "MYO7A" "0000332831" "MYO7A" "0000332832" "MYO7A" "0000332833" "MYO7A" "0000332841" "MYO7A" "0000332842" "MYO7A" "0000332843" "MYO7A" "0000332848" "MYO7A" "0000332849" "MYO7A" "0000332850" "MYO7A" "0000332919" "CHM" "0000332919" "MYO7A" "0000332926" "MYO7A" "0000333657" "MYO7A" "0000333658" "USH2A" "0000333662" "MYO7A" "0000333667" "MYO7A" "0000333668" "MYO7A" "0000333723" "MYO7A" "0000333723" "RHO" "0000334873" "MYO7A" "0000335075" "MYO7A" "0000335233" "MYO7A" "0000335234" "MYO7A" "0000335235" "MYO7A" "0000335236" "MYO7A" "0000335237" "MYO7A" "0000335238" "MYO7A" "0000336478" "MYO7A" "0000336506" "MYO7A" "0000337071" "MYO7A" "0000337072" "MYO7A" "0000337073" "MYO7A" "0000337074" "MYO7A" "0000337075" "MYO7A" "0000337076" "MYO7A" "0000337080" "MYO7A" "0000337081" "MYO7A" "0000337083" "MYO7A" "0000337085" "MYO7A" "0000337090" "MYO7A" "0000337091" "MYO7A" "0000337092" "MYO7A" "0000337093" "MYO7A" "0000337094" "MYO7A" "0000337095" "MYO7A" "0000337096" "MYO7A" "0000337097" "MYO7A" "0000337210" "MYO7A" "0000360056" "MYO7A" "0000360057" "MYO7A" "0000364422" "MYO7A" "0000364423" "MYO7A" "0000364424" "MYO7A" "0000364425" "MYO7A" "0000364426" "MYO7A" "0000364427" "MYO7A" "0000364428" "MYO7A" "0000364429" "MYO7A" "0000364430" "MYO7A" "0000364431" "MYO7A" "0000364432" "MYO7A" "0000364433" "MYO7A" "0000364434" "MYO7A" "0000364435" "MYO7A" "0000364436" "MYO7A" "0000364437" "MYO7A" "0000364438" "MYO7A" "0000364439" "MYO7A" "0000364440" "MYO7A" "0000364441" "MYO7A" "0000364442" "MYO7A" "0000364443" "MYO7A" "0000364461" "MYO7A" "0000364462" "MYO7A" "0000364463" "MYO7A" "0000364464" "MYO7A" "0000364465" "MYO7A" "0000364909" "MYO7A" "0000373748" "MYO7A" "0000373752" "BBS2" "0000374636" "MYO7A" "0000374639" "MYO7A" "0000375050" "MYO7A" "0000375076" "MYO7A" "0000376548" "MYO7A" "0000381048" "MYO7A" "0000381049" "MYO7A" "0000381409" "MYO7A" "0000381414" "MYO7A" "0000381415" "MYO7A" "0000382047" "MYO7A" "0000383779" "MYO7A" "0000383780" "MYO7A" "0000383781" "MYO7A" "0000383782" "MYO7A" "0000383783" "MYO7A" "0000385863" "MYO7A" "0000386378" "MYO7A" "0000388106" "CACNA2D4" "0000388111" "BBS4" "0000388118" "MYO7A" "0000388337" "MYO7A" "0000388338" "MYO7A" "0000388339" "MYO7A" "0000388340" "MYO7A" "0000388341" "MYO7A" "0000389798" "MYO7A" "0000389799" "MYO7A" "0000390034" "MYO7A" "0000390045" "MYO7A" "0000390082" "MYO7A" "0000390085" "MYO7A" "0000390104" "MYO7A" "0000390118" "MYO7A" "0000390125" "MYO7A" "0000390134" "MYO7A" "0000390515" "MYO7A" "0000390556" "MYO7A" "0000390649" "MYO7A" "0000391552" "MYO7A" "0000391553" "MYO7A" "0000391554" "MYO7A" "0000391555" "MYO7A" "0000391556" "MYO7A" "0000391557" "MYO7A" "0000391558" "MYO7A" "0000391559" "MYO7A" "0000392050" "MYO7A" "0000392051" "MYO7A" "0000392612" "MYO7A" "0000392821" "MYO7A" "0000393843" "MYO7A" "0000393885" "MYO7A" "0000393901" "MYO7A" "0000393911" "MYO7A" "0000393926" "MYO7A" "0000394873" "MYO7A" "0000395169" "MYO7A" "0000395170" "MYO7A" "0000395171" "MYO7A" "0000395172" "MYO7A" "0000395173" "MYO7A" "0000395174" "MYO7A" "0000395175" "MYO7A" "0000395176" "MYO7A" "0000395177" "MYO7A" "0000395178" "MYO7A" "0000395179" "MYO7A" "0000395180" "MYO7A" "0000395181" "MYO7A" "0000395182" "MYO7A" "0000395183" "MYO7A" "0000395184" "MYO7A" "0000395185" "MYO7A" "0000395186" "MYO7A" "0000395187" "MYO7A" "0000395946" "MYO7A" "0000395947" "MYO7A" "0000395948" "MYO7A" "0000395949" "MYO7A" "0000395950" "MYO7A" "0000395951" "MYO7A" "0000395952" "MYO7A" "0000395953" "MYO7A" "0000395954" "MYO7A" "0000395955" "MYO7A" "0000395956" "MYO7A" "0000395957" "MYO7A" "0000395958" "MYO7A" "0000397021" "MYO7A" "0000397031" "MYO7A" "0000397200" "MYO7A" "0000397201" "MYO7A" "0000397450" "CEP290" "0000397452" "CEP290" "0000397460" "GUCY2D" "0000397469" "CEP290" "0000397470" "RPGRIP1" "0000397473" "MYO7A" "0000397474" "MYO7A" "0000397475" "MYO7A" "0000397476" "MYO7A" "0000397477" "MYO7A" "0000397478" "MYO7A" "0000397479" "MYO7A" "0000397502" "MYO7A" "0000397503" "MYO7A" "0000397504" "MYO7A" "0000397505" "MYO7A" "0000397506" "MYO7A" "0000397507" "MYO7A" "0000397508" "MYO7A" "0000397529" "MYO7A" "0000397530" "MYO7A" "0000397531" "MYO7A" "0000397532" "MYO7A" "0000397716" "MYO7A" "0000397722" "MYO7A" "0000400971" "MYO7A" "0000400972" "MYO7A" "0000400973" "MYO7A" "0000400974" "MYO7A" "0000400975" "MYO7A" "0000400976" "MYO7A" "0000400977" "MYO7A" "0000400980" "MYO7A" "0000400981" "MYO7A" "0000400982" "MYO7A" "0000400983" "MYO7A" "0000400984" "MYO7A" "0000400985" "MYO7A" "0000400986" "MYO7A" "0000400987" "MYO7A" "0000400988" "MYO7A" "0000400989" "MYO7A" "0000400990" "MYO7A" "0000400991" "MYO7A" "0000400992" "MYO7A" "0000400993" "MYO7A" "0000400994" "MYO7A" "0000400995" "MYO7A" "0000400996" "MYO7A" "0000400997" "MYO7A" "0000400998" "MYO7A" "0000400999" "MYO7A" "0000401000" "MYO7A" "0000401001" "MYO7A" "0000401002" "MYO7A" "0000401003" "MYO7A" "0000401004" "MYO7A" "0000401005" "MYO7A" "0000401006" "MYO7A" "0000401007" "MYO7A" "0000401008" "MYO7A" "0000401009" "MYO7A" "0000401010" "MYO7A" "0000401011" "MYO7A" "0000401012" "MYO7A" "0000401013" "MYO7A" "0000401014" "MYO7A" "0000401015" "MYO7A" "0000402817" "MYO7A" "0000402818" "MYO7A" "0000402819" "MYO7A" "0000402820" "MYO7A" "0000402821" "MYO7A" "0000402822" "MYO7A" "0000402823" "MYO7A" "0000402824" "MYO7A" "0000402825" "MYO7A" "0000402826" "MYO7A" "0000402827" "MYO7A" "0000402828" "MYO7A" "0000402829" "MYO7A" "0000402830" "MYO7A" "0000402831" "MYO7A" "0000402832" "MYO7A" "0000402833" "MYO7A" "0000402834" "MYO7A" "0000402835" "MYO7A" "0000402836" "MYO7A" "0000402837" "MYO7A" "0000402838" "MYO7A" "0000402839" "MYO7A" "0000402840" "MYO7A" "0000402841" "MYO7A" "0000402842" "MYO7A" "0000402843" "MYO7A" "0000402844" "MYO7A" "0000402845" "MYO7A" "0000402846" "MYO7A" "0000402847" "MYO7A" "0000402848" "MYO7A" "0000402849" "MYO7A" "0000402850" "MYO7A" "0000402851" "MYO7A" "0000402852" "MYO7A" "0000402853" "MYO7A" "0000402854" "MYO7A" "0000402855" "MYO7A" "0000402856" "MYO7A" "0000402857" "MYO7A" "0000402858" "MYO7A" "0000402859" "MYO7A" "0000402860" "MYO7A" "0000402861" "MYO7A" "0000402862" "MYO7A" "0000402863" "MYO7A" "0000402864" "MYO7A" "0000402865" "MYO7A" "0000402866" "MYO7A" "0000402867" "MYO7A" "0000402868" "MYO7A" "0000402869" "MYO7A" "0000402870" "MYO7A" "0000402871" "MYO7A" "0000402872" "MYO7A" "0000402873" "MYO7A" "0000402874" "MYO7A" "0000402875" "MYO7A" "0000402877" "HGF" "0000402877" "MYO7A" "0000402877" "TECTA" "0000404430" "MYO7A" "0000404431" "MYO7A" "0000404432" "MYO7A" "0000404433" "MYO7A" "0000404434" "MYO7A" "0000404435" "MYO7A" "0000404436" "MYO7A" "0000404437" "MYO7A" "0000404438" "MYO7A" "0000404439" "MYO7A" "0000404440" "MYO7A" "0000404441" "MYO7A" "0000404442" "MYO7A" "0000404443" "MYO7A" "0000404444" "MYO7A" "0000404445" "MYO7A" "0000404446" "MYO7A" "0000404447" "MYO7A" "0000404448" "MYO7A" "0000404449" "MYO7A" "0000404450" "MYO7A" "0000404451" "MYO7A" "0000404452" "MYO7A" "0000404453" "MYO7A" "0000404454" "MYO7A" "0000404455" "MYO7A" "0000404456" "MYO7A" "0000404457" "MYO7A" "0000404458" "MYO7A" "0000404459" "MYO7A" "0000404460" "MYO7A" "0000404461" "MYO7A" "0000404462" "MYO7A" "0000404463" "MYO7A" "0000404464" "MYO7A" "0000404465" "MYO7A" "0000404466" "MYO7A" "0000404467" "MYO7A" "0000404468" "MYO7A" "0000404469" "MYO7A" "0000404470" "MYO7A" "0000404471" "MYO7A" "0000404472" "MYO7A" "0000404473" "MYO7A" "0000404474" "MYO7A" "0000404475" "MYO7A" "0000404476" "MYO7A" "0000404477" "PHF8" "0000404525" "MYO7A" "0000416550" "MYO7A" "0000421724" "MYO7A" "0000421876" "MYO7A" "0000428264" "MYO7A" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 4686 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000005034" "3" "30" "11" "76910319" "76910319" "subst" "0" "00037" "MYO7A_000442" "g.76910319C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77199274C>T" "" "likely benign" "" "0000005035" "3" "30" "11" "76914696" "76914696" "subst" "0" "00037" "MYO7A_000441" "g.76914696G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77203651G>C" "" "likely benign" "" "0000021284" "1" "70" "11" "76913433" "76913433" "subst" "0" "00130" "MYO7A_000531" "g.76913433C>A" "" "{PMID:Neveling 2013:24123792}" "" "" "segregation needed to confirm" "Unknown" "?" "" "0" "" "" "g.77202388C>A" "" "likely pathogenic" "" "0000061689" "3" "90" "11" "76867813" "76867813" "subst" "0" "01263" "MYO7A_000432" "g.76867813C>T" "" "{PMID:Wang 2011:21901789}, {DOI:Wang 2011:10.1002/humu.21587}" "" "" "not in 400 control chromosomes" "Germline" "yes" "" "0" "" "" "g.77156767C>T" "" "pathogenic" "" "0000089790" "21" "90" "11" "76868004" "76868004" "subst" "0" "01542" "MYO7A_000143" "g.76868004C>T" "2/148 patients" "" "" "" "0/105 controls" "Germline" "yes" "" "0" "" "" "g.77156958C>T" "" "pathogenic" "" "0000089938" "0" "50" "11" "76890090" "76890090" "subst" "0" "01551" "MYO7A_000086" "g.76890090G>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.77179044G>T" "" "VUS" "" "0000089953" "0" "90" "11" "76841700" "76841700" "subst" "0.00000409443" "01551" "MYO7A_000605" "g.76841700T>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.77130654T>A" "" "pathogenic" "" "0000089954" "0" "90" "11" "76900449" "76900455" "del" "0" "01551" "MYO7A_000606" "g.76900449_76900455del" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "3564_3570delTGCCCGG" "" "Germline" "" "" "0" "" "" "g.77189404_77189410del" "" "pathogenic" "" "0000089960" "0" "50" "11" "76867059" "76867059" "subst" "0" "01551" "MYO7A_000607" "g.76867059C>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.77156013C>T" "" "VUS" "" "0000089963" "0" "50" "11" "76871300" "76871300" "subst" "0" "01551" "MYO7A_000754" "g.76871300C>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.77160254C>T" "" "VUS" "" "0000089964" "0" "50" "11" "76916530" "76916530" "subst" "0" "01551" "MYO7A_000752" "g.76916530G>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.77205485G>A" "" "VUS" "" "0000089965" "0" "50" "11" "76872115" "76872115" "subst" "0.00000406167" "01551" "MYO7A_000608" "g.76872115A>G" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.77161069A>G" "" "VUS" "" "0000089966" "0" "70" "11" "76873225" "76873225" "subst" "0.000145819" "01551" "MYO7A_000609" "g.76873225A>G" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.77162179A>G" "" "likely pathogenic" "" "0000089967" "0" "50" "11" "76883842" "76883842" "subst" "0.000125313" "01551" "MYO7A_000753" "g.76883842C>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.77172796C>T" "" "VUS" "" "0000089968" "0" "50" "11" "76892486" "76892486" "subst" "0.0000222197" "01551" "MYO7A_000611" "g.76892486G>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.77181440G>A" "" "VUS" "" "0000089969" "0" "50" "11" "76868367" "76868367" "subst" "0" "01551" "MYO7A_000755" "g.76868367G>C" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.77157321G>C" "" "VUS" "" "0000089970" "0" "50" "11" "76901123" "76901123" "subst" "0" "01551" "MYO7A_000613" "g.76901123G>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.77190078G>A" "" "VUS" "" "0000089971" "0" "50" "11" "76901153" "76901153" "subst" "0.0000764877" "01551" "MYO7A_000033" "g.76901153G>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.77190108G>A" "" "VUS" "" "0000089972" "0" "50" "11" "76910657" "76910758" "ins" "0" "01551" "MYO7A_000751" "g.76910657_76910758insGAA" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "Variant Error [ESYNTAX]: This genomic variant has an error (insertion length must be 1). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.77199612_77199713insGAA" "" "VUS" "" "0000091197" "3" "90" "11" "76867935" "76867935" "subst" "0" "01542" "MYO7A_000497" "g.76867935A>G" "" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "" "" "not in 266 controls, 3/171 heterozygous unrelated deaf" "Germline" "yes" "" "0" "" "" "g.77156889A>G" "" "pathogenic" "" "0000091198" "21" "90" "11" "76853765" "76853765" "subst" "0.000012491" "01542" "MYO7A_000498" "g.76853765T>C" "1/201 cases" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "" "" "not in 221 hearing controls" "Germline" "yes" "" "0" "" "" "g.77142719T>C" "" "pathogenic" "" "0000091199" "11" "90" "11" "76885835" "76885835" "subst" "0" "01542" "MYO7A_000410" "g.76885835C>T" "2/170 cases" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "" "" "2/133 hearing Turkish Jews, 0/177 Jewish controls of other origins" "Germline" "yes" "" "0" "" "" "g.77174789C>T" "" "pathogenic" "" "0000091207" "0" "90" "11" "76867935" "76867935" "subst" "0" "01542" "MYO7A_000497" "g.76867935A>G" "3/171 cases (heter)" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "" "" "not in 0/266 controls" "Germline" "yes" "" "0" "" "" "g.77156889A>G" "" "pathogenic" "" "0000091210" "0" "90" "11" "76867935" "76867935" "subst" "0" "01542" "MYO7A_000497" "g.76867935A>G" "3/171 cases (het)" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "" "" "not in 266 controls" "Germline" "yes" "" "0" "" "" "g.77156889A>G" "" "pathogenic" "" "0000091211" "0" "90" "11" "76885835" "76885835" "subst" "0" "01542" "MYO7A_000410" "g.76885835C>T" "2/170 cases" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "" "" "2/310 controls (heterozygous)" "Germline" "yes" "" "0" "" "" "g.77174789C>T" "" "pathogenic" "" "0000091298" "3" "90" "11" "76922356" "76922356" "subst" "0" "00006" "MYO7A_000500" "g.76922356C>T" "" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "" "" "" "Germline" "" "" "0" "" "" "g.77211311C>T" "" "pathogenic" "" "0000091299" "3" "90" "11" "76905397" "76905397" "subst" "0" "00006" "MYO7A_000499" "g.76905397A>G" "" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "" "" "" "Germline" "yes" "" "0" "" "" "g.77194352A>G" "" "pathogenic" "" "0000091300" "3" "90" "11" "76905397" "76905397" "subst" "0" "00006" "MYO7A_000499" "g.76905397A>G" "" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "" "" "" "Germline" "yes" "" "0" "" "" "g.77194352A>G" "" "pathogenic" "" "0000091302" "0" "90" "11" "76885835" "76885835" "subst" "0" "00006" "MYO7A_000410" "g.76885835C>T" "2/310 controls (het)" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "" "" "" "Germline" "" "" "0" "" "" "g.77174789C>T" "" "pathogenic" "" "0000128959" "1" "70" "11" "76873195" "76873195" "subst" "0" "01740" "MYO7A_000155" "g.76873195A>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.77162149A>T" "" "likely pathogenic" "" "0000128963" "1" "70" "11" "76867967" "76867967" "subst" "0.0000446769" "01740" "MYO7A_000355" "g.76867967G>A" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.77156921G>A" "" "likely pathogenic" "" "0000128968" "1" "70" "11" "76891450" "76891450" "subst" "0.00102625" "01740" "MYO7A_000426" "g.76891450C>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.77180404C>T" "" "likely pathogenic" "" "0000128990" "1" "70" "11" "76894116" "76894116" "subst" "0" "01740" "MYO7A_000756" "g.76894116C>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.77183071C>T" "" "likely pathogenic" "" "0000128991" "2" "70" "11" "76901853" "76901853" "subst" "0.0000287194" "01740" "MYO7A_000225" "g.76901853G>C" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.77190808G>C" "" "likely pathogenic" "" "0000128992" "2" "70" "11" "76914163" "76914163" "subst" "0.0018532" "01740" "MYO7A_000150" "g.76914163C>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.77203118C>T" "" "likely pathogenic" "" "0000129018" "1" "70" "11" "76895733" "76895733" "subst" "0.000230631" "01740" "MYO7A_000263" "g.76895733G>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.77184688G>T" "" "likely pathogenic" "" "0000129019" "2" "70" "11" "76916586" "76916586" "subst" "0" "01740" "MYO7A_000477" "g.76916586G>A" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.77205541G>A" "" "likely pathogenic" "" "0000129039" "1" "70" "11" "76916644" "76916644" "subst" "0.000024499" "01740" "MYO7A_000598" "g.76916644G>A" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.77205599G>A" "" "likely pathogenic" "" "0000129040" "2" "70" "11" "76919825" "76919825" "subst" "0" "01740" "MYO7A_000216" "g.76919825G>A" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.77208780G>A" "" "likely pathogenic" "" "0000129183" "0" "50" "11" "76922267" "76922267" "subst" "0" "01740" "MYO7A_000604" "g.76922267T>A" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.77211222T>A" "" "VUS" "" "0000130028" "3" "90" "11" "76919504" "76919506" "del" "0" "01758" "MYO7A_000022" "g.76919504_76919506del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.77208459_77208461del" "" "pathogenic" "ACMG" "0000130102" "3" "90" "11" "76916643" "76916643" "subst" "0.0000122487" "01758" "MYO7A_000032" "g.76916643C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.77205598C>T" "" "pathogenic" "ACMG" "0000248651" "0" "10" "11" "76917220" "76917220" "subst" "0.516665" "02325" "MYO7A_000038" "g.76917220A>G" "" "" "" "MYO7A(NM_000260.4):c.5715A>G (p.K1905=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77206175A>G" "" "benign" "" "0000255366" "0" "70" "11" "76873195" "76873195" "subst" "0" "01943" "MYO7A_000155" "g.76873195A>T" "" "" "" "MYO7A(NM_000260.3):c.1373A>T (p.N458I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77162149A>T" "" "likely pathogenic" "" "0000255984" "0" "50" "11" "76873225" "76873225" "subst" "0.000145819" "01943" "MYO7A_000609" "g.76873225A>G" "" "" "" "MYO7A(NM_000260.3):c.1403A>G (p.H468R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77162179A>G" "" "VUS" "" "0000256157" "0" "50" "11" "76868392" "76868392" "subst" "0.0009594" "01943" "MYO7A_000297" "g.76868392A>G" "" "" "" "MYO7A(NM_000260.3):c.803A>G (p.K268R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77157346A>G" "" "VUS" "" "0000256427" "0" "50" "11" "76918377" "76918377" "subst" "0" "01943" "MYO7A_000673" "g.76918377A>G" "" "" "" "MYO7A(NM_000260.3):c.5786A>G (p.Q1929R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77207332A>G" "" "VUS" "" "0000256649" "0" "50" "11" "76910750" "76910750" "subst" "0.000162904" "01943" "MYO7A_000654" "g.76910750A>G" "" "" "" "MYO7A(NM_000260.3):c.4739A>G (p.Y1580C), MYO7A(NM_000260.4):c.4739A>G (p.Y1580C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77199705A>G" "" "VUS" "" "0000264277" "0" "10" "11" "76834887" "76834887" "subst" "0.00397781" "02330" "CAPN5_000015" "g.76834887C>A" "" "" "" "CAPN5(NM_004055.4):c.1894C>A (p.L632I), CAPN5(NM_004055.5):c.1894C>A (p.L632I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77123841C>A" "" "benign" "" "0000272603" "0" "30" "11" "76834880" "76834880" "subst" "0" "01943" "CAPN5_000014" "g.76834880G>A" "" "" "" "CAPN5(NM_004055.4):c.1887G>A (p.V629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77123834G>A" "" "likely benign" "" "0000272604" "0" "30" "11" "76834887" "76834887" "subst" "0.00397781" "01943" "CAPN5_000015" "g.76834887C>A" "" "" "" "CAPN5(NM_004055.4):c.1894C>A (p.L632I), CAPN5(NM_004055.5):c.1894C>A (p.L632I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77123841C>A" "" "likely benign" "" "0000292836" "0" "30" "11" "76870496" "76870496" "subst" "0.00114075" "02330" "MYO7A_000186" "g.76870496G>A" "" "" "" "MYO7A(NM_000260.3):c.1007G>A (p.R336H), MYO7A(NM_000260.4):c.1007G>A (p.R336H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77159450G>A" "" "likely benign" "" "0000292837" "0" "10" "11" "76872132" "76872132" "subst" "0.0000162456" "02330" "MYO7A_000610" "g.76872132C>T" "" "" "" "MYO7A(NM_000260.4):c.1314C>T (p.I438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77161086C>T" "" "benign" "" "0000292838" "0" "10" "11" "76858837" "76858837" "subst" "0.00483018" "02330" "MYO7A_000368" "g.76858837C>T" "" "" "" "MYO7A(NM_000260.3):c.133-7C>T, MYO7A(NM_000260.4):c.133-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77147791C>T" "" "benign" "" "0000292840" "0" "10" "11" "76883850" "76883850" "subst" "0.00216162" "02330" "MYO7A_000616" "g.76883850G>A" "" "" "" "MYO7A(NM_000260.3):c.1854G>A (p.L618=), MYO7A(NM_000260.4):c.1854G>A (p.L618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77172804G>A" "" "benign" "" "0000292841" "0" "10" "11" "76885900" "76885900" "subst" "0.0000122184" "02330" "MYO7A_000617" "g.76885900C>T" "" "" "" "MYO7A(NM_000260.4):c.2034C>T (p.F678=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77174854C>T" "" "benign" "" "0000292842" "0" "10" "11" "76886504" "76886504" "subst" "0.000333336" "02330" "MYO7A_000618" "g.76886504T>C" "" "" "" "MYO7A(NM_000260.4):c.2181T>C (p.F727=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77175458T>C" "" "benign" "" "0000292843" "0" "50" "11" "76890919" "76890919" "subst" "0.0005782" "02330" "MYO7A_000621" "g.76890919C>T" "" "" "" "MYO7A(NM_000260.3):c.2506C>T (p.R836C, p.(Arg836Cys)), MYO7A(NM_000260.4):c.2506C>T (p.R836C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77179873C>T" "" "VUS" "" "0000292844" "0" "50" "11" "76890955" "76890955" "subst" "0.0000227957" "02330" "MYO7A_000623" "g.76890955C>T" "" "" "" "MYO7A(NM_000260.4):c.2542C>T (p.R848W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77179909C>T" "" "VUS" "" "0000292845" "0" "30" "11" "76892529" "76892529" "subst" "0.000237213" "02330" "MYO7A_000625" "g.76892529G>A" "" "" "" "MYO7A(NM_000260.3):c.2798G>A (p.R933H), MYO7A(NM_000260.4):c.2798G>A (p.R933H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77181483G>A" "" "likely benign" "" "0000292847" "0" "10" "11" "76893606" "76893606" "subst" "0.00175376" "02330" "MYO7A_000629" "g.76893606G>A" "" "" "" "MYO7A(NM_000260.4):c.3246G>A (p.T1082=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77182561G>A" "" "benign" "" "0000292848" "0" "10" "11" "76900392" "76900392" "subst" "0.0000203449" "02330" "MYO7A_000631" "g.76900392C>T" "" "" "" "MYO7A(NM_000260.4):c.3507C>T (p.D1169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77189347C>T" "" "benign" "" "0000292849" "0" "70" "11" "76900431" "76900431" "subst" "0" "02330" "MYO7A_000581" "g.76900431C>A" "" "" "" "MYO7A(NM_000260.3):c.3546C>A (p.N1182K), MYO7A(NM_000260.4):c.3546C>A (p.N1182K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77189386C>A" "" "likely pathogenic" "" "0000292850" "0" "90" "11" "76901153" "76901153" "subst" "0.0000764877" "02330" "MYO7A_000033" "g.76901153G>A" "" "" "" "MYO7A(NM_000260.3):c.3719G>A (p.R1240Q), MYO7A(NM_000260.4):c.3719G>A (p.R1240Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77190108G>A" "" "pathogenic" "" "0000292851" "0" "10" "11" "76901193" "76901193" "subst" "0.00187955" "02330" "MYO7A_000319" "g.76901193G>A" "" "" "" "MYO7A(NM_000260.3):c.3750+9G>A, MYO7A(NM_000260.4):c.3750+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77190148G>A" "" "benign" "" "0000292852" "0" "10" "11" "76901828" "76901828" "subst" "0.0000370196" "02330" "MYO7A_000636" "g.76901828G>A" "" "" "" "MYO7A(NM_000260.4):c.3837G>A (p.T1279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77190783G>A" "" "benign" "" "0000292854" "0" "10" "11" "76903245" "76903245" "subst" "0.00000406128" "02330" "MYO7A_000642" "g.76903245C>A" "" "" "" "MYO7A(NM_000260.3):c.4074C>A (p.S1358=), MYO7A(NM_000260.4):c.4074C>A (p.S1358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77192200C>A" "" "benign" "" "0000292855" "0" "10" "11" "76903245" "76903245" "subst" "0.00435775" "02330" "MYO7A_000643" "g.76903245C>T" "" "" "" "MYO7A(NM_000260.4):c.4074C>T (p.S1358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77192200C>T" "" "benign" "" "0000292856" "0" "30" "11" "76905391" "76905391" "subst" "0.000422584" "02330" "MYO7A_000644" "g.76905391C>T" "" "" "" "MYO7A(NM_000260.3):c.4153-8C>T, MYO7A(NM_000260.4):c.4153-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77194346C>T" "" "likely benign" "" "0000292857" "0" "10" "11" "76905581" "76905581" "subst" "0.000499178" "02330" "MYO7A_000646" "g.76905581G>A" "" "" "" "MYO7A(NM_000260.4):c.4323+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77194536G>A" "" "benign" "" "0000292858" "0" "50" "11" "76908527" "76908527" "subst" "0" "02330" "MYO7A_000647" "g.76908527G>A" "" "" "" "MYO7A(NM_000260.4):c.4325G>A (p.G1442E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77197482G>A" "" "VUS" "" "0000292859" "0" "10" "11" "76908662" "76908662" "subst" "0" "02330" "MYO7A_000649" "g.76908662T>C" "" "" "" "MYO7A(NM_000260.4):c.4441+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77197617T>C" "" "benign" "" "0000292860" "0" "10" "11" "76908663" "76908663" "subst" "0" "02330" "MYO7A_000650" "g.76908663G>T" "" "" "" "MYO7A(NM_000260.4):c.4441+20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77197618G>T" "" "benign" "" "0000292861" "0" "50" "11" "76908643" "76908643" "subst" "0" "02330" "MYO7A_000648" "g.76908643G>T" "" "" "" "MYO7A(NM_000260.4):c.4441G>T (p.G1481C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77197598G>T" "" "VUS" "" "0000292862" "0" "10" "11" "76909559" "76909559" "subst" "0.00398264" "02330" "MYO7A_000307" "g.76909559C>T" "" "" "" "MYO7A(NM_000260.3):c.4461C>T (p.N1487=), MYO7A(NM_000260.4):c.4461C>T (p.N1487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77198514C>T" "" "benign" "" "0000292863" "0" "10" "11" "76909562" "76909562" "subst" "0.00000812744" "02330" "MYO7A_000652" "g.76909562C>T" "" "" "" "MYO7A(NM_000260.3):c.4464C>T (p.D1488=), MYO7A(NM_000260.4):c.4464C>T (p.D1488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77198517C>T" "" "benign" "" "0000292864" "0" "10" "11" "76909678" "76909678" "subst" "0.0108829" "02330" "MYO7A_000448" "g.76909678C>G" "" "" "" "MYO7A(NM_000260.4):c.4568+12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77198633C>G" "" "benign" "" "0000292866" "0" "10" "11" "76867745" "76867745" "subst" "0.00263566" "02330" "MYO7A_000077" "g.76867745G>A" "" "" "" "MYO7A(NM_000260.3):c.510G>A (p.L170=), MYO7A(NM_000260.4):c.510G>A (p.L170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77156699G>A" "" "benign" "" "0000292867" "0" "10" "11" "76914151" "76914151" "subst" "0.00133245" "02330" "MYO7A_000338" "g.76914151C>A" "" "" "" "MYO7A(NM_000260.4):c.5215C>A (p.R1739=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77203106C>A" "" "benign" "" "0000292868" "0" "10" "11" "76915168" "76915168" "subst" "0.000323875" "02330" "MYO7A_000660" "g.76915168G>A" "" "" "" "MYO7A(NM_000260.3):c.5374G>A (p.V1792I), MYO7A(NM_000260.4):c.5374G>A (p.V1792I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77204123G>A" "" "benign" "" "0000292869" "0" "10" "11" "76915219" "76915219" "subst" "0" "02330" "MYO7A_000662" "g.76915219C>T" "" "" "" "MYO7A(NM_000260.4):c.5425C>T (p.L1809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77204174C>T" "" "benign" "" "0000292870" "0" "10" "11" "76916493" "76916493" "subst" "0.000865488" "02330" "MYO7A_000663" "g.76916493G>A" "" "" "" "MYO7A(NM_000260.4):c.5481-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77205448G>A" "" "benign" "" "0000292871" "0" "90" "11" "76916607" "76916607" "subst" "0.00000821301" "02330" "MYO7A_000144" "g.76916607C>T" "" "" "" "MYO7A(NM_000260.4):c.5581C>T (p.R1861*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000292872" "0" "10" "11" "76916624" "76916624" "subst" "0.00215877" "02330" "MYO7A_000440" "g.76916624C>A" "" "" "" "MYO7A(NM_000260.3):c.5598C>A (p.L1866=), MYO7A(NM_000260.4):c.5598C>A (p.L1866=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77205579C>A" "" "benign" "" "0000292873" "0" "10" "11" "76916670" "76916670" "subst" "0" "02330" "MYO7A_000669" "g.76916670G>T" "" "" "" "MYO7A(NM_000260.4):c.5636+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77205625G>T" "" "benign" "" "0000292874" "0" "50" "11" "76918340" "76918340" "subst" "0.0000542222" "02330" "MYO7A_000671" "g.76918340G>A" "" "" "" "MYO7A(NM_000260.3):c.5749G>A (p.E1917K), MYO7A(NM_000260.4):c.5749G>A (p.E1917K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77207295G>A" "" "VUS" "" "0000292875" "0" "10" "11" "76918426" "76918426" "subst" "0.000798353" "02330" "MYO7A_000675" "g.76918426C>T" "" "" "" "MYO7A(NM_000260.4):c.5835C>T (p.L1945=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77207381C>T" "" "benign" "" "0000292876" "0" "10" "11" "76919484" "76919484" "subst" "0.00396369" "02330" "MYO7A_000376" "g.76919484G>A" "" "" "" "MYO7A(NM_000260.3):c.5866G>A (p.V1956I, p.(Val1956Ile)), MYO7A(NM_000260.4):c.5866G>A (p.V1956I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77208439G>A" "" "benign" "" "0000292877" "0" "10" "11" "76867891" "76867891" "subst" "0.000219373" "02330" "MYO7A_000776" "g.76867891C>T" "" "" "" "MYO7A(NM_000260.4):c.593-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77156845C>T" "" "benign" "" "0000292878" "0" "10" "11" "76919573" "76919573" "subst" "0.0000500409" "02330" "MYO7A_000679" "g.76919573C>T" "" "" "" "MYO7A(NM_000260.4):c.5944+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77208528C>T" "" "benign" "" "0000292879" "0" "10" "11" "76922359" "76922359" "subst" "0.000318305" "02330" "MYO7A_000680" "g.76922359G>A" "" "" "" "MYO7A(NM_000260.4):c.6214G>A (p.V2072I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77211314G>A" "" "benign" "" "0000292880" "0" "50" "11" "76867991" "76867991" "subst" "0.000219373" "02330" "MYO7A_000157" "g.76867991G>A" "" "" "" "MYO7A(NM_000260.3):c.676G>A (p.A226T), MYO7A(NM_000260.4):c.676G>A (p.A226T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77156945G>A" "" "VUS" "" "0000292881" "0" "90" "11" "76868020" "76868020" "subst" "0" "02330" "MYO7A_000781" "g.76868020C>A" "" "" "" "MYO7A(NM_000260.4):c.705C>A (p.Y235*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77156974C>A" "" "pathogenic" "" "0000292882" "0" "50" "11" "76869378" "76869378" "subst" "0.00261705" "02330" "MYO7A_000003" "g.76869378G>A" "" "" "" "MYO7A(NM_000260.3):c.905G>A (p.R302H), MYO7A(NM_000260.4):c.905G>A (p.R302H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77158332G>A" "" "VUS" "" "0000296247" "0" "10" "11" "76853783" "76853783" "subst" "0.392567" "02325" "MYO7A_000031" "g.76853783T>C" "" "" "" "MYO7A(NM_000260.4):c.47T>C (p.L16S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77142737T>C" "" "benign" "" "0000302722" "0" "30" "11" "76858837" "76858837" "subst" "0.00483018" "01943" "MYO7A_000368" "g.76858837C>T" "" "" "" "MYO7A(NM_000260.3):c.133-7C>T, MYO7A(NM_000260.4):c.133-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77147791C>T" "" "likely benign" "" "0000302723" "0" "30" "11" "76873384" "76873384" "subst" "0.00256038" "01943" "MYO7A_000457" "g.76873384G>A" "" "" "" "MYO7A(NM_000260.3):c.1554+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77162338G>A" "" "likely benign" "" "0000302724" "0" "30" "11" "76873922" "76873922" "subst" "0" "01943" "MYO7A_000612" "g.76873922C>T" "" "" "" "MYO7A(NM_000260.3):c.1578C>T (p.H526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77162876C>T" "" "likely benign" "" "0000302725" "0" "30" "11" "76873949" "76873949" "subst" "0.00307822" "01943" "MYO7A_000262" "g.76873949C>T" "" "" "" "MYO7A(NM_000260.3):c.1605C>T (p.N535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77162903C>T" "" "likely benign" "" "0000302726" "0" "50" "11" "76873966" "76873966" "subst" "0.000012183" "01943" "MYO7A_000614" "g.76873966C>T" "" "" "" "MYO7A(NM_000260.3):c.1622C>T (p.P541L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77162920C>T" "" "VUS" "" "0000302727" "0" "50" "11" "76883842" "76883842" "subst" "0.000125313" "01943" "MYO7A_000753" "g.76883842C>T" "" "" "" "MYO7A(NM_000260.3):c.1846C>T (p.R616W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77172796C>T" "" "VUS" "" "0000302728" "0" "30" "11" "76883850" "76883850" "subst" "0.00216162" "01943" "MYO7A_000616" "g.76883850G>A" "" "" "" "MYO7A(NM_000260.3):c.1854G>A (p.L618=), MYO7A(NM_000260.4):c.1854G>A (p.L618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77172804G>A" "" "likely benign" "" "0000302729" "0" "50" "11" "76888655" "76888655" "subst" "0" "01943" "MYO7A_000619" "g.76888655C>T" "" "" "" "MYO7A(NM_000260.3):c.2248C>T (p.L750F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77177609C>T" "" "VUS" "" "0000302730" "0" "30" "11" "76890834" "76890834" "subst" "0.0000138798" "01943" "MYO7A_000620" "g.76890834C>T" "" "" "" "MYO7A(NM_000260.3):c.2421C>T (p.H807=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77179788C>T" "" "likely benign" "" "0000302731" "0" "50" "11" "76890940" "76890940" "subst" "0.000451828" "01943" "MYO7A_000622" "g.76890940G>A" "" "" "" "MYO7A(NM_000260.3):c.2527G>A (p.V843M), MYO7A(NM_000260.4):c.2527G>A (p.V843M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77179894G>A" "" "VUS" "" "0000302732" "0" "50" "11" "76890971" "76890971" "subst" "0" "01943" "MYO7A_000624" "g.76890971G>T" "" "" "" "MYO7A(NM_000260.3):c.2558G>T (p.R853L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77179925G>T" "" "VUS" "" "0000302733" "0" "30" "11" "76893185" "76893185" "subst" "0.0000122448" "01943" "MYO7A_000626" "g.76893185C>T" "" "" "" "MYO7A(NM_000260.3):c.3093C>T (p.D1031=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77182139C>T" "" "likely benign" "" "0000302734" "0" "50" "11" "76893499" "76893499" "subst" "0" "01943" "MYO7A_000628" "g.76893499C>A" "" "" "" "MYO7A(NM_000260.3):c.3139C>A (p.R1047S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77182454C>A" "" "VUS" "" "0000302735" "0" "30" "11" "76893643" "76893643" "subst" "0.000395744" "01943" "MYO7A_000630" "g.76893643G>A" "" "" "" "MYO7A(NM_000260.3):c.3283G>A (p.E1095K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77182598G>A" "" "likely benign" "" "0000302736" "0" "90" "11" "76894116" "76894116" "subst" "0" "01943" "MYO7A_000756" "g.76894116C>T" "" "" "" "MYO7A(NM_000260.3):c.3289C>T (p.Q1097*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77183071C>T" "" "pathogenic" "" "0000302737" "0" "30" "11" "76901163" "76901163" "subst" "0" "01943" "MYO7A_000633" "g.76901163G>A" "" "" "" "MYO7A(NM_000260.3):c.3729G>A (p.P1243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77190118G>A" "" "likely benign" "" "0000302738" "0" "50" "11" "76901189" "76901189" "subst" "0.000731032" "01943" "MYO7A_000634" "g.76901189G>A" "" "" "" "MYO7A(NM_000260.3):c.3750+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77190144G>A" "" "VUS" "" "0000302739" "0" "50" "11" "76853773" "76853773" "subst" "0.00000415096" "01943" "MYO7A_000771" "g.76853773G>C" "" "" "" "MYO7A(NM_000260.3):c.37G>C (p.D13H, p.(Asp13His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77142727G>C" "" "VUS" "" "0000302740" "0" "30" "11" "76901855" "76901855" "subst" "0.00041285" "01943" "MYO7A_000637" "g.76901855C>T" "" "" "" "MYO7A(NM_000260.3):c.3864C>T (p.A1288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77190810C>T" "" "likely benign" "" "0000302741" "0" "30" "11" "76901946" "76901961" "del" "0" "01943" "MYO7A_000639" "g.76901946_76901961del" "" "" "" "MYO7A(NM_000260.3):c.3924+31_3924+46delAAGCACCTCCTCCCGG, MYO7A(NM_000260.4):c.3924+10_3924+25delCCCGGAAGCACCTCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77190901_77190916del" "" "likely benign" "" "0000302742" "0" "50" "11" "76903114" "76903114" "subst" "0.0000286815" "01943" "MYO7A_000640" "g.76903114G>A" "" "" "" "MYO7A(NM_000260.3):c.3943G>A (p.G1315S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77192069G>A" "" "VUS" "" "0000302743" "0" "50" "11" "76903183" "76903183" "subst" "0.00000813425" "01943" "MYO7A_000641" "g.76903183C>T" "" "" "" "MYO7A(NM_000260.3):c.4012C>T (p.R1338C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77192138C>T" "" "VUS" "" "0000302744" "0" "30" "11" "76903245" "76903245" "subst" "0.00000406128" "01943" "MYO7A_000642" "g.76903245C>A" "" "" "" "MYO7A(NM_000260.3):c.4074C>A (p.S1358=), MYO7A(NM_000260.4):c.4074C>A (p.S1358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77192200C>A" "" "likely benign" "" "0000302745" "0" "50" "11" "76905526" "76905526" "subst" "0.0000340617" "01943" "MYO7A_000645" "g.76905526C>T" "" "" "" "MYO7A(NM_000260.3):c.4280C>T (p.T1427M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77194481C>T" "" "VUS" "" "0000302746" "0" "30" "11" "76909559" "76909559" "subst" "0.00398264" "01943" "MYO7A_000307" "g.76909559C>T" "" "" "" "MYO7A(NM_000260.3):c.4461C>T (p.N1487=), MYO7A(NM_000260.4):c.4461C>T (p.N1487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77198514C>T" "" "likely benign" "" "0000302747" "0" "30" "11" "76867115" "76867115" "subst" "0.000459417" "01943" "MYO7A_000774" "g.76867115C>A" "" "" "" "MYO7A(NM_000260.3):c.448C>A (p.R150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77156069C>A" "" "likely benign" "" "0000302748" "0" "30" "11" "76910856" "76910856" "subst" "0.00129104" "01943" "MYO7A_000390" "g.76910856C>A" "" "" "" "MYO7A(NM_000260.3):c.4845C>A (p.P1615=), MYO7A(NM_000260.4):c.4845C>A (p.P1615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77199811C>A" "" "likely benign" "" "0000302749" "0" "50" "11" "76912619" "76912619" "subst" "0" "01943" "MYO7A_000657" "g.76912619G>A" "" "" "" "MYO7A(NM_000260.3):c.4979G>A (p.G1660E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77201574G>A" "" "VUS" "" "0000302750" "0" "30" "11" "76867745" "76867745" "subst" "0.00263566" "01943" "MYO7A_000077" "g.76867745G>A" "" "" "" "MYO7A(NM_000260.3):c.510G>A (p.L170=), MYO7A(NM_000260.4):c.510G>A (p.L170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77156699G>A" "" "likely benign" "" "0000302751" "0" "50" "11" "76913414" "76913414" "subst" "0" "01943" "MYO7A_000658" "g.76913414C>A" "" "" "" "MYO7A(NM_000260.3):c.5113C>A (p.P1705T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77202369C>A" "" "VUS" "" "0000302752" "0" "50" "11" "76914163" "76914163" "subst" "0.0018532" "01943" "MYO7A_000150" "g.76914163C>T" "" "" "" "MYO7A(NM_000260.3):c.5227C>T (p.R1743W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77203118C>T" "" "VUS" "" "0000302753" "0" "50" "11" "76915168" "76915168" "subst" "0" "01943" "MYO7A_000661" "g.76915168G>C" "" "" "" "MYO7A(NM_000260.3):c.5374G>C (p.V1792L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77204123G>C" "" "VUS" "" "0000302754" "0" "70" "11" "76916506" "76916506" "subst" "0" "01943" "MYO7A_000664" "g.76916506G>C" "" "" "" "MYO7A(NM_000260.3):c.5481-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77205461G>C" "" "likely pathogenic" "" "0000302755" "0" "30" "11" "76916520" "76916520" "subst" "0.000173162" "01943" "MYO7A_000665" "g.76916520C>A" "" "" "" "MYO7A(NM_000260.3):c.5494C>A (p.R1832=), MYO7A(NM_000260.4):c.5494C>A (p.R1832=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77205475C>A" "" "likely benign" "" "0000302756" "0" "70" "11" "76916599" "76916599" "subst" "0.0000247349" "01943" "MYO7A_000080" "g.76916599T>C" "" "" "" "MYO7A(NM_000260.3):c.5573T>C (p.L1858P), MYO7A(NM_000260.4):c.5573T>C (p.L1858P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77205554T>C" "" "likely pathogenic" "" "0000302757" "0" "30" "11" "76916624" "76916624" "subst" "0.00215877" "01943" "MYO7A_000440" "g.76916624C>A" "" "" "" "MYO7A(NM_000260.3):c.5598C>A (p.L1866=), MYO7A(NM_000260.4):c.5598C>A (p.L1866=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77205579C>A" "" "likely benign" "" "0000302758" "0" "70" "11" "76916644" "76916644" "subst" "0.000024499" "01943" "MYO7A_000598" "g.76916644G>A" "" "" "" "MYO7A(NM_000260.3):c.5618G>A (p.R1873Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77205599G>A" "" "likely pathogenic" "" "0000302759" "0" "50" "11" "76918340" "76918340" "subst" "0.0000542222" "01943" "MYO7A_000671" "g.76918340G>A" "" "" "" "MYO7A(NM_000260.3):c.5749G>A (p.E1917K), MYO7A(NM_000260.4):c.5749G>A (p.E1917K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77207295G>A" "" "VUS" "" "0000302760" "0" "50" "11" "76918373" "76918373" "subst" "0.00000820123" "01943" "MYO7A_000672" "g.76918373T>C" "" "" "" "MYO7A(NM_000260.3):c.5782T>C (p.C1928R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77207328T>C" "" "VUS" "" "0000302761" "0" "30" "11" "76918384" "76918384" "subst" "0.0000368843" "01943" "MYO7A_000674" "g.76918384C>T" "" "" "" "MYO7A(NM_000260.3):c.5793C>T (p.I1931=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77207339C>T" "" "likely benign" "" "0000302762" "0" "30" "11" "76919484" "76919484" "subst" "0.00396369" "01943" "MYO7A_000376" "g.76919484G>A" "" "" "" "MYO7A(NM_000260.3):c.5866G>A (p.V1956I, p.(Val1956Ile)), MYO7A(NM_000260.4):c.5866G>A (p.V1956I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77208439G>A" "" "likely benign" "" "0000302763" "0" "30" "11" "76919522" "76919522" "subst" "0.00111834" "01943" "MYO7A_000677" "g.76919522C>T" "" "" "" "MYO7A(NM_000260.3):c.5904C>T (p.H1968=), MYO7A(NM_000260.4):c.5904C>T (p.H1968=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77208477C>T" "" "likely benign" "" "0000302764" "0" "50" "11" "76919529" "76919529" "subst" "0.00000813643" "01943" "MYO7A_000678" "g.76919529G>C" "" "" "" "MYO7A(NM_000260.3):c.5911G>C (p.D1971H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77208484G>C" "" "VUS" "" "0000302766" "0" "50" "11" "76867991" "76867991" "subst" "0.000219373" "01943" "MYO7A_000157" "g.76867991G>A" "" "" "" "MYO7A(NM_000260.3):c.676G>A (p.A226T), MYO7A(NM_000260.4):c.676G>A (p.A226T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77156945G>A" "" "VUS" "" "0000302767" "0" "50" "11" "76868002" "76868002" "subst" "0.000349409" "01943" "MYO7A_000490" "g.76868002C>T" "" "" "" "MYO7A(NM_000260.3):c.687C>T (p.G229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77156956C>T" "" "VUS" "" "0000302768" "0" "30" "11" "76869378" "76869378" "subst" "0.00261705" "01943" "MYO7A_000003" "g.76869378G>A" "" "" "" "MYO7A(NM_000260.3):c.905G>A (p.R302H), MYO7A(NM_000260.4):c.905G>A (p.R302H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77158332G>A" "" "likely benign" "" "0000322420" "0" "50" "11" "76890919" "76890919" "subst" "0.0005782" "01804" "MYO7A_000621" "g.76890919C>T" "" "" "" "MYO7A(NM_000260.3):c.2506C>T (p.R836C, p.(Arg836Cys)), MYO7A(NM_000260.4):c.2506C>T (p.R836C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77179873C>T" "" "VUS" "" "0000338741" "0" "90" "11" "76853754" "76853754" "subst" "0" "02327" "MYO7A_000535" "g.76853754G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77142708G>A" "" "pathogenic" "" "0000338742" "0" "90" "11" "76867138" "76867138" "subst" "0" "02327" "MYO7A_000192" "g.76867138G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77156092G>A" "" "pathogenic" "" "0000338743" "0" "90" "11" "76867907" "76867907" "subst" "0" "02327" "MYO7A_000693" "g.76867907G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77156861G>A" "" "pathogenic" "" "0000338744" "0" "90" "11" "76873891" "76873891" "subst" "0" "02327" "MYO7A_000105" "g.76873891C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77162845C>G" "" "pathogenic" "" "0000338745" "0" "90" "11" "76893467" "76893467" "subst" "0.00000413791" "02327" "MYO7A_000728" "g.76893467A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77182422A>G" "" "pathogenic" "" "0000338746" "0" "10" "11" "76901927" "76901927" "subst" "0.517928" "02327" "MYO7A_000042" "g.76901927C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77190882C>T" "" "benign" "" "0000338747" "0" "10" "11" "76917220" "76917220" "subst" "0.516665" "02327" "MYO7A_000038" "g.76917220A>G" "" "" "" "MYO7A(NM_000260.4):c.5715A>G (p.K1905=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77206175A>G" "" "benign" "" "0000338748" "0" "10" "11" "76918322" "76918322" "subst" "0.589554" "02327" "MYO7A_000027" "g.76918322T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77207277T>C" "" "benign" "" "0000338749" "0" "10" "11" "76919468" "76919468" "subst" "0.562382" "02327" "MYO7A_000052" "g.76919468A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77208423A>T" "" "benign" "" "0000338750" "0" "10" "11" "76919865" "76919865" "subst" "0.566049" "02327" "MYO7A_000025" "g.76919865T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77208820T>A" "" "benign" "" "0000338751" "0" "10" "11" "76925040" "76925040" "subst" "0.201995" "02327" "MYO7A_000021" "g.76925040G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77213995G>A" "" "benign" "" "0000338752" "0" "10" "11" "76925641" "76925641" "subst" "0.0181384" "02327" "MYO7A_000106" "g.76925641C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77214596C>T" "" "benign" "" "0000340446" "0" "10" "11" "76866955" "76866955" "subst" "0.0156793" "02327" "MYO7A_000393" "g.76866955G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77155909G>A" "" "benign" "" "0000340447" "0" "10" "11" "76868372" "76868372" "subst" "0.388729" "02327" "MYO7A_000047" "g.76868372T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77157326T>C" "" "benign" "" "0000340448" "0" "30" "11" "76873949" "76873949" "subst" "0.00307822" "02327" "MYO7A_000262" "g.76873949C>T" "" "" "" "MYO7A(NM_000260.3):c.1605C>T (p.N535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77162903C>T" "" "likely benign" "" "0000340449" "0" "10" "11" "76901819" "76901819" "subst" "0.00498058" "02327" "MYO7A_000070" "g.76901819G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77190774G>A" "" "benign" "" "0000340450" "0" "10" "11" "76910766" "76910766" "subst" "0.51417" "02327" "MYO7A_000039" "g.76910766C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77199721C>T" "" "benign" "" "0000340451" "0" "10" "11" "76916645" "76916645" "subst" "0.0155035" "02327" "MYO7A_000392" "g.76916645G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77205600G>A" "" "benign" "" "0000340452" "0" "10" "11" "76922868" "76922868" "subst" "0.0258668" "02327" "MYO7A_000036" "g.76922868C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77211823C>T" "" "benign" "" "0000340453" "0" "10" "11" "76922946" "76922946" "subst" "0.17794" "02327" "MYO7A_000035" "g.76922946G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77211901G>A" "" "benign" "" "0000340454" "0" "10" "11" "76924985" "76924985" "subst" "0.0111808" "02327" "MYO7A_000116" "g.76924985C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77213940C>T" "" "benign" "" "0000341082" "0" "10" "11" "76872169" "76872169" "subst" "0.0961573" "02327" "MYO7A_000093" "g.76872169G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77161123G>A" "" "benign" "" "0000341097" "0" "50" "11" "76893479" "76893479" "subst" "0.0000205222" "02327" "MYO7A_000729" "g.76893479C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77182434C>T" "" "VUS" "" "0000341603" "0" "50" "11" "76890889" "76890889" "subst" "0.00123187" "02327" "MYO7A_000013" "g.76890889G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "" "0000341607" "0" "50" "11" "76890967" "76890967" "subst" "0.000038303" "02327" "MYO7A_000724" "g.76890967G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77179921G>A" "" "VUS" "" "0000341754" "0" "30" "11" "76895693" "76895693" "subst" "0" "02327" "MYO7A_000731" "g.76895693C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77184648C>T" "" "likely benign" "" "0000341809" "0" "90" "11" "76901153" "76901153" "subst" "0.0000764877" "02327" "MYO7A_000033" "g.76901153G>A" "" "" "" "MYO7A(NM_000260.3):c.3719G>A (p.R1240Q), MYO7A(NM_000260.4):c.3719G>A (p.R1240Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77190108G>A" "" "pathogenic" "" "0000341810" "0" "70" "11" "76901152" "76901152" "subst" "0" "02327" "MYO7A_000152" "g.76901152C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77190107C>T" "" "likely pathogenic" "" "0000342011" "0" "10" "11" "76910816" "76910816" "subst" "0.00356672" "02327" "MYO7A_000149" "g.76910816G>A" "" "" "" "MYO7A(NM_000260.3):c.4805G>A (p.(Arg1602Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77199771G>A" "" "benign" "" "0000342132" "0" "90" "11" "76916607" "76916607" "subst" "0.00000821301" "02327" "MYO7A_000144" "g.76916607C>T" "" "" "" "MYO7A(NM_000260.4):c.5581C>T (p.R1861*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000342137" "0" "70" "11" "76916644" "76916644" "subst" "0.000024499" "02327" "MYO7A_000598" "g.76916644G>A" "" "" "" "MYO7A(NM_000260.3):c.5618G>A (p.R1873Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77205599G>A" "" "likely pathogenic" "" "0000342177" "0" "90" "11" "76919517" "76919517" "subst" "0" "02327" "MYO7A_000534" "g.76919517C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77208472C>T" "" "pathogenic" "" "0000342246" "0" "90" "11" "76867950" "76867950" "subst" "0.0000121841" "02327" "MYO7A_000004" "g.76867950G>A" "" "" "" "MYO7A(NM_000260.3):c.635G>A (p.R212H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77156904G>A" "" "pathogenic" "" "0000342393" "0" "50" "11" "76868046" "76868046" "subst" "0.000249122" "02327" "MYO7A_000696" "g.76868046G>A" "" "" "" "MYO7A(NM_000260.3):c.731G>A (p.R244H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77157000G>A" "" "VUS" "" "0000342837" "0" "50" "11" "76872031" "76872031" "subst" "0.0000260001" "02327" "MYO7A_000699" "g.76872031C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77160985C>T" "" "VUS" "" "0000343174" "0" "50" "11" "76883842" "76883842" "subst" "0.000125313" "02327" "MYO7A_000753" "g.76883842C>T" "" "" "" "MYO7A(NM_000260.3):c.1846C>T (p.R616W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77172796C>T" "" "VUS" "" "0000343217" "0" "50" "11" "76885836" "76885836" "subst" "0.0000337749" "02327" "MYO7A_000713" "g.76885836G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77174790G>A" "" "VUS" "" "0000343232" "0" "70" "11" "76885869" "76885869" "subst" "0" "02327" "MYO7A_000714" "g.76885869G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77174823G>A" "" "likely pathogenic" "" "0000343234" "0" "90" "11" "76885871" "76885871" "subst" "0.0000204165" "02327" "MYO7A_000209" "g.76885871C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77174825C>T" "" "pathogenic" "" "0000343247" "0" "50" "11" "76885889" "76885889" "subst" "0.0000203751" "02327" "MYO7A_000716" "g.76885889C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77174843C>T" "" "VUS" "" "0000343260" "0" "50" "11" "76885916" "76885916" "subst" "0.0000366533" "02327" "MYO7A_000718" "g.76885916C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77174870C>T" "" "VUS" "" "0000343376" "0" "50" "11" "76890800" "76890800" "subst" "0" "02327" "MYO7A_000722" "g.76890800G>A" "" "" "" "MYO7A(NM_000260.3):c.2387G>A (p.R796Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77179754G>A" "" "VUS" "" "0000343495" "0" "50" "11" "76892529" "76892529" "subst" "0.000237213" "02327" "MYO7A_000625" "g.76892529G>A" "" "" "" "MYO7A(NM_000260.3):c.2798G>A (p.R933H), MYO7A(NM_000260.4):c.2798G>A (p.R933H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77181483G>A" "" "VUS" "" "0000343754" "0" "50" "11" "76872062" "76872062" "subst" "0.0000040864" "02327" "MYO7A_000700" "g.76872062A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77161016A>G" "" "VUS" "" "0000343763" "0" "70" "11" "76873195" "76873195" "subst" "0" "02327" "MYO7A_000155" "g.76873195A>T" "" "" "" "MYO7A(NM_000260.3):c.1373A>T (p.N458I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77162149A>T" "" "likely pathogenic" "" "0000343764" "0" "50" "11" "76873195" "76873195" "subst" "0.0000130243" "02327" "MYO7A_000702" "g.76873195A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77162149A>G" "" "VUS" "" "0000343908" "0" "50" "11" "76905441" "76905441" "subst" "0.0000491707" "02327" "MYO7A_000739" "g.76905441G>C" "" "" "" "MYO7A(NM_000260.3):c.4195G>C (p.D1399H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77194396G>C" "" "VUS" "" "0000343948" "0" "50" "11" "76912633" "76912633" "subst" "0.0000243762" "02327" "MYO7A_000745" "g.76912633G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77201588G>A" "" "VUS" "" "0000343994" "0" "70" "11" "76867967" "76867967" "subst" "0.0000446769" "02327" "MYO7A_000355" "g.76867967G>A" "" "" "" "MYO7A(NM_000260.3):c.652G>A (p.D218N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77156921G>A" "" "likely pathogenic" "" "0000344349" "0" "90" "11" "76853829" "76853829" "subst" "0.0000375447" "02327" "MYO7A_000012" "g.76853829C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77142783C>A" "" "pathogenic" "" "0000344500" "0" "90" "11" "76894116" "76894116" "subst" "0" "02327" "MYO7A_000756" "g.76894116C>T" "" "" "" "MYO7A(NM_000260.3):c.3289C>T (p.Q1097*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77183071C>T" "" "pathogenic" "" "0000344596" "0" "90" "11" "76913375" "76913375" "subst" "0" "02327" "MYO7A_000748" "g.76913375C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77202330C>T" "" "pathogenic" "" "0000344669" "0" "70" "11" "76925691" "76925691" "subst" "0" "02327" "MYO7A_000769" "g.76925691C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77214646C>T" "" "likely pathogenic" "" "0000344942" "0" "90" "11" "76886439" "76886439" "subst" "0" "02327" "MYO7A_000316" "g.76886439C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77175393C>T" "" "pathogenic" "" "0000345056" "0" "30" "11" "76893643" "76893643" "subst" "0.000395744" "02327" "MYO7A_000630" "g.76893643G>A" "" "" "" "MYO7A(NM_000260.3):c.3283G>A (p.E1095K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77182598G>A" "" "likely benign" "" "0000345074" "0" "70" "11" "76900393" "76900393" "subst" "0.0000162752" "02327" "MYO7A_000023" "g.76900393G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77189348G>A" "" "likely pathogenic" "" "0000345194" "0" "50" "11" "76915174" "76915174" "subst" "0.0000862915" "02327" "MYO7A_000749" "g.76915174G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77204129G>A" "" "VUS" "" "0000345810" "0" "50" "11" "76916523" "76916523" "subst" "0" "02327" "MYO7A_000750" "g.76916523G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77205478G>C" "" "VUS" "" "0000345823" "0" "90" "11" "76918415" "76918415" "subst" "0.0000124305" "02327" "MYO7A_000370" "g.76918415G>T" "" "" "" "MYO7A(NM_000260.4):c.5824G>T (p.G1942*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77207370G>T" "" "pathogenic" "" "0000345831" "0" "90" "11" "76919562" "76919562" "subst" "0.00000822713" "02327" "MYO7A_000239" "g.76919562G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77208517G>A" "" "pathogenic" "" "0000346170" "0" "50" "11" "76877135" "76877135" "subst" "0.0000040626" "02327" "MYO7A_000709" "g.76877135G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77166089G>A" "" "VUS" "" "0000346483" "0" "50" "11" "76873225" "76873225" "subst" "0.000145819" "02327" "MYO7A_000609" "g.76873225A>G" "" "" "" "MYO7A(NM_000260.3):c.1403A>G (p.H468R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77162179A>G" "" "VUS" "" "0000346940" "0" "10" "11" "76853783" "76853783" "subst" "0.392567" "02327" "MYO7A_000031" "g.76853783T>C" "" "" "" "MYO7A(NM_000260.4):c.47T>C (p.L16S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77142737T>C" "" "benign" "" "0000346970" "0" "10" "11" "76919478" "76919478" "subst" "0.474337" "02327" "MYO7A_000053" "g.76919478C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77208433C>A" "" "benign" "" "0000347097" "0" "50" "11" "76853824" "76853824" "subst" "0" "02327" "MYO7A_000685" "g.76853824C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77142778C>A" "" "VUS" "" "0000347610" "0" "30" "11" "76883840" "76883840" "subst" "0" "02327" "MYO7A_000710" "g.76883840A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77172794A>G" "" "likely benign" "" "0000347776" "0" "50" "11" "76925663" "76925663" "subst" "0.0000352159" "02327" "MYO7A_000767" "g.76925663G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77214618G>A" "" "VUS" "" "0000347979" "0" "50" "11" "76919771" "76919771" "subst" "0.00000974279" "02327" "MYO7A_000758" "g.76919771T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77208726T>A" "" "VUS" "" "0000348123" "0" "50" "11" "76893517" "76893517" "subst" "0.0000814445" "02327" "MYO7A_000730" "g.76893517C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77182472C>T" "" "VUS" "" "0000348237" "0" "50" "11" "76913433" "76913433" "subst" "0" "02327" "MYO7A_000531" "g.76913433C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77202388C>A" "" "VUS" "" "0000348408" "0" "50" "11" "76871215" "76871215" "subst" "0.0000124558" "02327" "MYO7A_000698" "g.76871215C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77160169C>T" "" "VUS" "" "0000348555" "0" "50" "11" "76885947" "76885947" "subst" "0.0000407388" "02327" "MYO7A_000720" "g.76885947C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77174901C>T" "" "VUS" "" "0000348738" "0" "10" "11" "76910600" "76910600" "subst" "0.0056044" "02327" "MYO7A_000069" "g.76910600C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77199555C>T" "" "benign" "" "0000348767" "0" "10" "11" "76912636" "76912636" "subst" "0.550278" "02327" "MYO7A_000054" "g.76912636A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77201591A>T" "" "benign" "" "0000349064" "0" "70" "11" "76873344" "76873344" "subst" "0" "02327" "MYO7A_000336" "g.76873344T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77162298T>C" "" "likely pathogenic" "" "0000349124" "0" "50" "11" "76883845" "76883845" "subst" "0" "02327" "MYO7A_000711" "g.76883845T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77172799T>C" "" "VUS" "" "0000349561" "0" "50" "11" "76858871" "76858871" "subst" "0" "02327" "MYO7A_000687" "g.76858871A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77147825A>G" "" "VUS" "" "0000349711" "0" "90" "11" "76912584" "76912584" "subst" "0" "02327" "MYO7A_000744" "g.76912584G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77201539G>A" "" "pathogenic" "" "0000349935" "0" "50" "11" "76910750" "76910750" "subst" "0.000162904" "02327" "MYO7A_000654" "g.76910750A>G" "" "" "" "MYO7A(NM_000260.3):c.4739A>G (p.Y1580C), MYO7A(NM_000260.4):c.4739A>G (p.Y1580C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77199705A>G" "" "VUS" "" "0000349985" "0" "70" "11" "76925684" "76925684" "subst" "0" "02327" "MYO7A_000768" "g.76925684C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77214639C>G" "" "likely pathogenic" "" "0000350131" "0" "50" "11" "76873957" "76873957" "subst" "0" "02327" "MYO7A_000708" "g.76873957A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77162911A>C" "" "VUS" "" "0000350328" "0" "50" "11" "76910834" "76910834" "subst" "0.00000412123" "02327" "MYO7A_000742" "g.76910834T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77199789T>C" "" "VUS" "" "0000350375" "0" "10" "11" "76919484" "76919484" "subst" "0.00396369" "02327" "MYO7A_000376" "g.76919484G>A" "" "" "" "MYO7A(NM_000260.3):c.5866G>A (p.V1956I, p.(Val1956Ile)), MYO7A(NM_000260.4):c.5866G>A (p.V1956I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77208439G>A" "" "benign" "" "0000350559" "0" "50" "11" "76873227" "76873227" "subst" "0" "02327" "MYO7A_000704" "g.76873227G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77162181G>A" "" "VUS" "" "0000350618" "0" "50" "11" "76883893" "76883893" "subst" "0" "02327" "MYO7A_000712" "g.76883893G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77172847G>A" "" "VUS" "" "0000350631" "0" "10" "11" "76885901" "76885901" "subst" "0.00419911" "02327" "MYO7A_000066" "g.76885901G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77174855G>A" "" "benign" "" "0000350717" "0" "30" "11" "76867933" "76867933" "subst" "0.0000203082" "02327" "MYO7A_000694" "g.76867933C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77156887C>T" "" "likely benign" "" "0000350770" "0" "50" "11" "76912560" "76912560" "subst" "0.0000365565" "02327" "MYO7A_000743" "g.76912560C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77201515C>T" "" "VUS" "" "0000351369" "0" "50" "11" "76853797" "76853797" "subst" "0.0000371348" "02327" "MYO7A_000684" "g.76853797G>A" "" "" "" "MYO7A(NM_000260.3):c.61G>A (p.(Asp21Asn)), MYO7A(NM_000260.4):c.61G>A (p.D21N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77142751G>A" "" "VUS" "" "0000351370" "0" "70" "11" "76867062" "76867062" "subst" "0" "02327" "MYO7A_000172" "g.76867062C>T" "" "" "" "(p.Pro132Leu)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77156016C>T" "" "likely pathogenic" "" "0000351371" "0" "90" "11" "76873898" "76873898" "subst" "0" "02327" "MYO7A_000231" "g.76873898G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77162852G>C" "" "pathogenic" "" "0000351372" "0" "90" "11" "76895761" "76895761" "subst" "0" "02327" "MYO7A_000732" "g.76895761G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77184716G>T" "" "pathogenic" "" "0000358284" "3" "90" "11" "76858998" "76858998" "subst" "0" "01243" "MYO7A_000773" "g.76858998T>G" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.77147952T>G" "" "pathogenic" "" "0000358285" "0" "70" "11" "76867955" "76867955" "subst" "0.00000406134" "01243" "MYO7A_000118" "g.76867955G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.77156909G>A" "" "likely pathogenic" "" "0000358286" "3" "90" "11" "76868015" "76868015" "subst" "0.0000365785" "01243" "MYO7A_000131" "g.76868015C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.77156969C>T" "" "pathogenic" "" "0000358287" "3" "90" "11" "76886511" "76886511" "subst" "0" "01243" "MYO7A_000782" "g.76886511G>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.77175465G>T" "" "pathogenic" "" "0000358288" "3" "90" "11" "76890115" "76890115" "del" "0" "01243" "MYO7A_000501" "g.76890115del" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.77179069del" "" "pathogenic" "" "0000358289" "3" "70" "11" "76901883" "76901883" "subst" "0" "01243" "MYO7A_000784" "g.76901883G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.77190838G>A" "" "likely pathogenic" "" "0000358290" "3" "90" "11" "76913370" "76913370" "ins" "0" "01243" "MYO7A_000785" "g.76913370insC" "" "Sharon, submitted" "" "" "Variant Error [ESYNTAX]: This genomic variant has an error (insertion length must be 1). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000358291" "3" "90" "11" "76916607" "76916607" "subst" "0.00000821301" "01243" "MYO7A_000144" "g.76916607C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000358292" "3" "90" "11" "76923981" "76925904" "del" "0" "01243" "MYO7A_000770" "g.76923981_76925904del" "" "Sharon, submitted" "" "6355-16_6811del" "" "Germline" "" "" "0" "" "" "g.77212936_77214859del" "" "pathogenic" "" "0000358445" "0" "90" "11" "76858998" "76858998" "subst" "0" "01243" "MYO7A_000773" "g.76858998T>G" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.77147952T>G" "" "pathogenic" "" "0000378741" "11" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02428" "MYO7A_000013" "g.76890889G>A" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "" "" "Homozygous; mutation" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000378742" "21" "79" "11" "76890889" "76890889" "subst" "0.00123187" "02428" "MYO7A_000013" "g.76890889G>A" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "" "" "Homozygous; mutation" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000378743" "0" "35" "11" "76869378" "76869378" "subst" "0.00261705" "02416" "MYO7A_000003" "g.76869378G>A" "" "{PMID:Bujakowska 2014:25468891}; USMA-{USMAMYO7A:R302H} USMA-{MSV3dQ13402:p.Arg302His}" "-BsrBI;-AciI;" "" "Heterozygous" "Germline" "" "rs41298135" "0" "" "" "g.77158332G>A" "" "likely benign" "ACMG" "0000378744" "0" "75" "11" "76925653" "76925653" "subst" "0" "02416" "MYO7A_000224" "g.76925653G>A" "" "{PMID:Bujakowska 2014:25468891}; USMA-{USMAMYO7A:G2187D} USMA-{MSV3dQ13402:p.Gly2187Asp}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77214608G>A" "" "VUS" "ACMG" "0000378745" "0" "75" "11" "76892635" "76892635" "subst" "0.0000122586" "02416" "MYO7A_000205" "g.76892635G>T" "" "{PMID:Bujakowska 2014:25468891}; USMA-{USMAMYO7A:E968D} USMA-{MSV3dQ13402:p.Glu968Asp}" "-MnlI;-KpnI;-NlaIV;-BanI;-Acc65I;" "" "Heterozygous" "Germline" "" "rs111033233" "0" "" "" "g.77181589G>T" "" "VUS" "ACMG" "0000378746" "0" "99" "11" "76885871" "76885871" "subst" "0.0000204165" "02416" "MYO7A_000209" "g.76885871C>T" "" "{PMID:Bujakowska 2014:25468891}" "+DdeI;+BspCNI;+MspA1I;+BlpI;-BglI;-EciI;" "" "Heterozygous" "Germline" "" "rs111033201" "0" "" "" "g.77174825C>T" "" "pathogenic" "" "0000378747" "0" "99" "11" "76867955" "76867955" "subst" "0.00000406134" "02416" "MYO7A_000118" "g.76867955G>A" "" "{PMID:Bujakowska 2014:25468891}; USMA-{USMAMYO7A:G214R} USMA-{MSV3dQ13402:p.Gly214Arg}" "none" "" "Heterozygous" "Germline" "" "rs111033283" "0" "" "" "g.77156909G>A" "" "pathogenic" "" "0000378748" "0" "35" "11" "76869378" "76869378" "subst" "0.00261705" "02416" "MYO7A_000003" "g.76869378G>A" "" "{PMID:Bujakowska 2014:25468891}; USMA-{USMAMYO7A:R302H} USMA-{MSV3dQ13402:p.Arg302His}" "-BsrBI;-AciI;" "" "Heterozygous" "Germline" "" "rs41298135" "0" "" "" "g.77158332G>A" "" "likely benign" "ACMG" "0000378749" "0" "75" "11" "76858910" "76858910" "subst" "0" "02416" "MYO7A_000220" "g.76858910G>A" "" "{PMID:Bharadwaj 2000:10930322}; USMA-{USMAMYO7A:V67M} USMA-{MSV3dQ13402:p.Val67Met}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77147864G>A" "" "VUS" "ACMG" "0000378750" "0" "11" "11" "76910708" "76910708" "subst" "0.00501209" "02416" "MYO7A_000082" "g.76910708C>T" "" "{PMID:Licastro 2012:22952768}; USMA-{USMAMYO7A:T1566M} USMA-{MSV3dQ13402:p.Thr1566Met}" "" "" "Heterozygous" "Germline" "" "rs41298747" "0" "" "" "g.77199663C>T" "" "benign" "" "0000378751" "0" "75" "11" "76908613" "76908613" "subst" "0" "02416" "MYO7A_000528" "g.76908613T>C" "" "{PMID:Licastro 2012:22952768}; USMA-{USMAMYO7A:S1471P} USMA-{MSV3dQ13402:p.Ser1471Pro}" "" "" "Heterozygous" "Germline" "" "rs397516310" "0" "" "" "g.77197568T>C" "" "VUS" "ACMG" "0000378752" "10" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Rong 2014:24831256}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous; non causative" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000378753" "20" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Rong 2014:24831256}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous; non causative" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000378754" "10" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous; non causative" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000378755" "20" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous; non causative" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000378756" "10" "11" "11" "76867729" "76867729" "subst" "0.0000284289" "02416" "MYO7A_000078" "g.76867729C>T" "0/200 controls" "{PMID:Rong 2014:24831256}; USMA-{USMAMYO7A:T165M} USMA-{MSV3dQ13402:p.Thr165Met}" "" "" "Heterozygous; causative" "Germline" "" "rs111033174" "0" "" "" "g.77156683C>T" "" "pathogenic" "" "0000378757" "20" "11" "11" "76867729" "76867729" "subst" "0.0000284289" "02416" "MYO7A_000078" "g.76867729C>T" "0/200 controls" "{PMID:Rong 2014:24831256}; USMA-{USMAMYO7A:T165M} USMA-{MSV3dQ13402:p.Thr165Met}" "" "" "Heterozygous; causative" "Germline" "" "rs111033174" "0" "" "" "g.77156683C>T" "" "pathogenic" "" "0000378758" "20" "11" "11" "76900487" "76900487" "subst" "0.000316841" "02416" "MYO7A_000482" "g.76900487G>C" "" "{PMID:Rong 2014:24831256}; USMA-{USMAMYO7A:C1201S} USMA-{MSV3dQ13402:p.Cys1201Ser}" "+BanII;+Bsp1286I;" "c.3602G>T-p.C1201S" "Homozygous; non causative" "Germline" "" "rs117966637" "0" "" "" "g.77189442G>C" "" "likely benign" "ACMG" "0000378759" "10" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Rong 2014:24831256}" "+BsmFI;-AhdI;" "chr11:76919468A>T-c.1951-7A>T" "Homozygous; non causative" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000378760" "20" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Rong 2014:24831256}" "+BsmFI;-AhdI;" "chr11:76919468A>T-c.1951-7A>T" "Homozygous; non causative" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000378761" "10" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous; non causative" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000378762" "20" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous; non causative" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000378763" "10" "11" "11" "76900487" "76900487" "subst" "0.000316841" "02416" "MYO7A_000482" "g.76900487G>C" "" "{PMID:Rong 2014:24831256}; USMA-{USMAMYO7A:C1201S} USMA-{MSV3dQ13402:p.Cys1201Ser}" "+BanII;+Bsp1286I;" "c.3602G>T-p.C1201S" "Homozygous; non causative" "Germline" "" "rs117966637" "0" "" "" "g.77189442G>C" "" "likely benign" "ACMG" "0000378764" "20" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Rong 2014:24831256}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous; non causative" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000378765" "10" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous; non causative" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000378766" "20" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous; non causative" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000378767" "10" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Rong 2014:24831256}" "+BsmFI;-AhdI;" "chr11:76919468A>T-c.1951-7A>T" "Homozygous; non causative" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000378768" "20" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Rong 2014:24831256}" "+BsmFI;-AhdI;" "chr11:76919468A>T-c.1951-7A>T" "Homozygous; non causative" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000378769" "10" "99" "11" "76867816" "76867817" "del" "0" "02416" "MYO7A_000516" "g.76867816_76867817del" "0/200 controls" "{PMID:Rong 2014:24831256}" "" "" "Homozygous; causative" "Germline" "" "" "0" "" "" "g.77156770_77156771del" "" "pathogenic" "" "0000378770" "20" "99" "11" "76867816" "76867817" "del" "0" "02416" "MYO7A_000516" "g.76867816_76867817del" "0/200 controls" "{PMID:Rong 2014:24831256}" "" "" "Homozygous; causative" "Germline" "" "" "0" "" "" "g.77156770_77156771del" "" "pathogenic" "" "0000378771" "10" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Rong 2014:24831256}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous; non causative" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000378772" "11" "99" "11" "76872162" "76872162" "subst" "0" "02416" "MYO7A_000514" "g.76872162G>A" "0/200 controls" "{PMID:Rong 2014:24831256}" "" "" "Heterozygous; causative" "Germline" "" "" "0" "" "" "g.77161116G>A" "" "pathogenic" "" "0000378773" "21" "75" "11" "76892568" "76892568" "subst" "0" "02416" "MYO7A_000515" "g.76892568T>G" "0/200 controls" "{PMID:Rong 2014:24831256}; USMA-{USMAMYO7A:M946R} USMA-{MSV3dQ13402:p.Met946Arg}" "" "" "Heterozygous; causative" "Germline" "" "" "0" "" "" "g.77181522T>G" "" "VUS" "ACMG" "0000378774" "0" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Heterozygous; non causative" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000378775" "0" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Rong 2014:24831256}" "+BsmFI;-AhdI;" "chr11:76919468A>T-c.1951-7A>T" "Heterozygous; non causative" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000378776" "0" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Heterozygous; non causative" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000378777" "0" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Rong 2014:24831256}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Heterozygous; non causative" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000378778" "21" "75" "11" "76890119" "76890119" "subst" "0" "02416" "MYO7A_000352" "g.76890119G>T" "" "{PMID:Yoshimura 2014:24618850}; USMA-{USMAMYO7A:A771S} USMA-{MSV3dQ13402:p.Ala771Ser}" "-Fnu4HI;-ApeKI;-BbvI;-TseI;" "" "Heterozygous; possible pathogenic" "Germline" "" "" "0" "" "" "g.77179073G>T" "" "VUS" "ACMG" "0000378779" "20" "99" "11" "76873967" "76873967" "dup" "0" "02416" "MYO7A_000227" "g.76873967dup" "" "{PMID:Yoshimura 2014:24618850}" "none" "" "Homozygous; possible pathogenic" "Germline" "" "" "0" "" "" "g.77162921dup" "" "pathogenic" "" "0000378780" "10" "99" "11" "76873967" "76873967" "dup" "0" "02416" "MYO7A_000227" "g.76873967dup" "" "{PMID:Yoshimura 2014:24618850}" "none" "" "Homozygous; possible pathogenic" "Germline" "" "" "0" "" "" "g.77162921dup" "" "pathogenic" "" "0000378781" "20" "35" "11" "76885940" "76885940" "subst" "0" "02416" "MYO7A_000509" "g.76885940G>A" "" "{PMID:Yoshimura 2014:24618850}; USMA-{USMAMYO7A:V692M} USMA-{MSV3dQ13402:p.Val692Met}" "" "" "Homozygous; possible pathogenic" "Germline" "" "" "0" "" "" "g.77174894G>A" "" "likely benign" "ACMG" "0000378782" "10" "35" "11" "76885940" "76885940" "subst" "0" "02416" "MYO7A_000509" "g.76885940G>A" "" "{PMID:Yoshimura 2014:24618850}; USMA-{USMAMYO7A:V692M} USMA-{MSV3dQ13402:p.Val692Met}" "" "" "Homozygous; possible pathogenic" "Germline" "" "" "0" "" "" "g.77174894G>A" "" "likely benign" "ACMG" "0000378783" "20" "75" "11" "76871317" "76871317" "subst" "0" "02416" "MYO7A_000326" "g.76871317G>A" "" "{PMID:Glöcke 2013:23591405}; USMA-{USMAMYO7A:A397T} USMA-{MSV3dQ13402:p.Ala397Thr}" "" "" "Homozygous; likely pathogenic" "Germline" "" "" "0" "" "" "g.77160271G>A" "" "VUS" "ACMG" "0000378784" "10" "75" "11" "76871317" "76871317" "subst" "0" "02416" "MYO7A_000326" "g.76871317G>A" "" "{PMID:Glöcke 2013:23591405}; USMA-{USMAMYO7A:A397T} USMA-{MSV3dQ13402:p.Ala397Thr}" "" "" "Homozygous; likely pathogenic" "Germline" "" "" "0" "" "" "g.77160271G>A" "" "VUS" "ACMG" "0000378785" "0" "35" "11" "76871262" "76871262" "subst" "0" "02416" "MYO7A_000488" "g.76871262C>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "-BstUI;-FauI;-MspA1I;-SacII;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77160216C>T" "" "likely benign" "ACMG" "0000378786" "0" "35" "11" "76922365" "76922365" "subst" "0.0000258639" "02416" "MYO7A_000487" "g.76922365C>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAMYO7A:P2074S} USMA-{MSV3dQ13402:p.Pro2074Ser}" "+Hpy188I;-HphI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77211320C>T" "" "likely benign" "ACMG" "0000378787" "0" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Heterozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000378788" "10" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000378789" "20" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000378790" "0" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+SpeI" "" "Heterozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000378791" "0" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "none" "" "Heterozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000378792" "0" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Heterozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000378793" "0" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "none" "" "Heterozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000378794" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000378795" "0" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "-BtsCI;-Hpy166II;-FokI;" "" "Heterozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000378796" "0" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Heterozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000378797" "0" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "" "Heterozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000378798" "0" "11" "11" "76892943" "76892943" "subst" "0" "02416" "MYO7A_000045" "g.76892943A>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+FauI;+AciI;" "" "Heterozygous" "Germline" "" "rs7117606" "0" "" "" "g.77181897A>G" "" "benign" "" "0000378799" "0" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "-SfaNI" "" "Heterozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000378800" "0" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+FatI;+NlaIII;+CviAII;" "" "Heterozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000378801" "0" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Heterozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000378802" "0" "11" "11" "76894235" "76894235" "subst" "0.544568" "02416" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Heterozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000378803" "0" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Heterozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000378804" "0" "11" "11" "76919619" "76919619" "subst" "0" "02416" "MYO7A_000051" "g.76919619G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI;" "" "Heterozygous" "Germline" "" "rs948961" "0" "" "" "g.77208574G>A" "" "benign" "" "0000378805" "0" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Heterozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000378806" "0" "11" "11" "76872169" "76872169" "subst" "0.0961573" "02416" "MYO7A_000093" "g.76872169G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+FatI;+NlaIII;+CviAII;-BstUI;" "" "Heterozygous" "Germline" "" "rs2276278" "0" "" "" "g.77161123G>A" "" "benign" "" "0000378807" "0" "11" "11" "76870458" "76870458" "subst" "0.0986801" "02416" "MYO7A_000094" "g.76870458C>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "Heterozygous" "Germline" "" "rs2071151" "0" "" "" "g.77159412C>G" "" "benign" "" "0000378808" "0" "11" "11" "76868278" "76868278" "subst" "0.0959973" "02416" "MYO7A_000095" "g.76868278C>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "-BseRI" "" "Heterozygous" "Germline" "" "rs3737454" "0" "" "" "g.77157232C>A" "" "benign" "" "0000378809" "0" "11" "11" "76908732" "76908732" "subst" "0" "02416" "MYO7A_000107" "g.76908732T>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77197687T>A" "" "benign" "" "0000378810" "0" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+BsmFI;-AhdI;" "" "Heterozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000378811" "0" "11" "11" "76870634" "76870634" "subst" "0" "02416" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+BsrI;+TspRI;+BmrI;" "" "Heterozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000378812" "0" "11" "11" "76919629" "76919629" "subst" "0" "02416" "MYO7A_000050" "g.76919629C>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "-BceAI" "" "Heterozygous" "Germline" "" "rs948960" "0" "" "" "g.77208584C>T" "" "benign" "" "0000378813" "0" "11" "11" "76920003" "76920003" "subst" "0" "02416" "MYO7A_000049" "g.76920003T>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+BsmFI;+BceAI;-BccI;-FokI;-PflMI;-BtsCI;" "" "Heterozygous" "Germline" "" "rs11237122" "0" "" "" "g.77208958T>C" "" "benign" "" "0000378814" "0" "11" "11" "76902024" "76902024" "subst" "0" "02416" "MYO7A_000058" "g.76902024G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+BspCNI;+DdeI;+BsaJI;" "" "Heterozygous" "Germline" "" "rs4944148" "0" "" "" "g.77190979G>A" "" "benign" "" "0000378815" "0" "11" "11" "76890242" "76890242" "subst" "0" "02416" "MYO7A_000059" "g.76890242T>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+MspA1I;+MwoI;+BbvI;-BtsI;-BstXI;-MslI;" "" "Heterozygous" "Germline" "" "rs10793239" "0" "" "" "g.77179196T>C" "" "benign" "" "0000378816" "0" "11" "11" "76874164" "76874165" "dup" "0" "02416" "MYO7A_000359" "g.76874164_76874165dup" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "none" "" "Heterozygous" "Germline" "" "rs55700684" "0" "" "" "g.77163118_77163119dup" "" "benign" "" "0000378817" "0" "75" "11" "76918394" "76918394" "subst" "0" "02416" "MYO7A_000485" "g.76918394C>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAMYO7A:L1935M} USMA-{MSV3dQ13402:p.Leu1935Met}" "+BtsCI;+FokI;+MslI;-ApeKI;-BbvI;-CviKI_1;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77207349C>A" "" "VUS" "ACMG" "0000378818" "0" "15" "11" "76919721" "76919721" "subst" "0" "02416" "MYO7A_000486" "g.76919721A>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+BslI;+CviKI_1;+EaeI;-BstEII;-HphI;-Tsp45I;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77208676A>G" "" "benign" "" "0000378819" "0" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Heterozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000378820" "0" "99" "11" "76916528" "76916528" "subst" "0" "02416" "MYO7A_000353" "g.76916528G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "none" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77205483G>A" "" "pathogenic" "" "0000378821" "10" "11" "11" "76874164" "76874165" "dup" "0" "02416" "MYO7A_000359" "g.76874164_76874165dup" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "none" "" "Homozygous" "Germline" "" "rs55700684" "0" "" "" "g.77163118_77163119dup" "" "benign" "" "0000378822" "20" "11" "11" "76874164" "76874165" "dup" "0" "02416" "MYO7A_000359" "g.76874164_76874165dup" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "none" "" "Homozygous" "Germline" "" "rs55700684" "0" "" "" "g.77163118_77163119dup" "" "benign" "" "0000378823" "0" "75" "11" "76867707" "76867707" "subst" "0" "02416" "MYO7A_000480" "g.76867707G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAMYO7A:G158R} USMA-{MSV3dQ13402:p.Gly158Arg}" "-BtsI;-TspRI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156661G>A" "" "VUS" "ACMG" "0000378824" "0" "99" "11" "76867828" "76867828" "subst" "0" "02419" "MYO7A_000252" "g.76867828G>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-HpyAV" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156782G>T" "" "pathogenic" "" "0000378825" "0" "99" "11" "76867005" "76867015" "dup" "0" "02419" "MYO7A_000470" "g.76867005_76867015dup" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+BccI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77155959_77155969dup" "" "pathogenic" "" "0000378826" "0" "99" "11" "76841633" "76841633" "subst" "0.000016735" "02419" "MYO7A_000468" "g.76841633A>G" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+AciI;-PstI;-HpyCH4V;-SfcI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77130587A>G" "" "pathogenic" "" "0000378827" "0" "99" "11" "76919822" "76919822" "del" "0" "02419" "MYO7A_000104" "g.76919822del" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77208777del" "" "pathogenic" "" "0000378828" "0" "15" "11" "76853790" "76853790" "subst" "0.0000247913" "02419" "MYO7A_000469" "g.76853790G>C" "1/852 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:Q18H} USMA-{MSV3dQ13402:p.Gln18His}" "+BssSI;+BaeGI;+Bsp1286I;" "" "Heterozygous; UV1" "Germline" "" "" "0" "" "" "g.77142744G>C" "" "likely benign" "ACMG" "0000378829" "20" "75" "11" "76919504" "76919506" "del" "0" "02419" "MYO7A_000022" "g.76919504_76919506del" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-MboII" "" "Homozygous; UV4" "Germline" "" "rs111033232" "0" "" "" "g.77208459_77208461del" "" "VUS" "ACMG" "0000378830" "10" "75" "11" "76919504" "76919506" "del" "0" "02419" "MYO7A_000022" "g.76919504_76919506del" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-MboII" "" "Homozygous; UV4" "Germline" "" "rs111033232" "0" "" "" "g.77208459_77208461del" "" "VUS" "ACMG" "0000378831" "0" "11" "11" "76877475" "76877475" "subst" "0" "02419" "MYO7A_000383" "g.76877475G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "rs2276280" "0" "" "" "g.77166429G>A" "" "benign" "" "0000378832" "0" "15" "11" "76894062" "76894062" "subst" "0" "02419" "MYO7A_000467" "g.76894062G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Hpy188III;-TaqI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77183017G>A" "" "likely benign" "ACMG" "0000378833" "0" "75" "11" "76883791" "76883791" "subst" "0" "02419" "MYO7A_000463" "g.76883791C>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MnlI;+BsoBI;+AvaI;" "" "Heterozygous; UV2" "Germline" "" "" "0" "" "" "g.77172745C>G" "" "VUS" "ACMG" "0000378834" "0" "11" "11" "76868278" "76868278" "subst" "0.0959973" "02419" "MYO7A_000095" "g.76868278C>A" "" "{PMID:Le Quesne Stabej 2012:22135276}" "-BseRI" "" "Heterozygous; Neutral" "Germline" "" "rs3737454" "0" "" "" "g.77157232C>A" "" "benign" "" "0000378835" "0" "11" "11" "76872169" "76872169" "subst" "0.0961573" "02419" "MYO7A_000093" "g.76872169G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+FatI;+NlaIII;+CviAII;-BstUI;" "" "Heterozygous; Neutral" "Germline" "" "rs2276278" "0" "" "" "g.77161123G>A" "" "benign" "" "0000378836" "0" "11" "11" "76877475" "76877475" "subst" "0" "02419" "MYO7A_000383" "g.76877475G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "rs2276280" "0" "" "" "g.77166429G>A" "" "benign" "" "0000378837" "0" "11" "11" "76892338" "76892338" "subst" "0" "02419" "MYO7A_000464" "g.76892338T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BglI;+AciI;-PstI;-HpyCH4V;-SfcI;" "" "Heterozygous" "Germline" "" "rs12285229" "0" "" "" "g.77181292T>C" "" "benign" "" "0000378838" "0" "11" "11" "76903194" "76903194" "subst" "0.00482118" "02419" "MYO7A_000465" "g.76903194C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+StyI;-BpmI;-BssKI;-StyD4I;-BstNI;-PspGI;" "" "Heterozygous; UV1" "Germline" "" "rs73495790" "0" "" "" "g.77192149C>T" "" "benign" "" "0000378839" "0" "15" "11" "76919864" "76919864" "subst" "0" "02419" "MYO7A_000466" "g.76919864C>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+PstI;+SfcI;-BsgI;" "" "Heterozygous; UV1" "Germline" "" "" "0" "" "" "g.77208819C>G" "" "likely benign" "ACMG" "0000378840" "0" "11" "11" "76913457" "76913457" "subst" "0.0161284" "02419" "MYO7A_000081" "g.76913457A>G" "9/864 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:Y1719C} USMA-{MSV3dQ13402:p.Tyr1719Cys}" "+Tsp45I" "" "Heterozygous; Neutral" "Germline" "" "rs77625410" "0" "" "" "g.77202412A>G" "" "benign" "" "0000378841" "0" "75" "11" "76883791" "76883791" "subst" "0" "02419" "MYO7A_000463" "g.76883791C>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MnlI;+BsoBI;+AvaI;" "" "Heterozygous; UV2" "Germline" "" "" "0" "" "" "g.77172745C>G" "" "VUS" "ACMG" "0000378842" "11" "99" "11" "76867950" "76867950" "subst" "0.0000121841" "02419" "MYO7A_000004" "g.76867950G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:R212H} USMA-{MSV3dQ13402:p.Arg212His}" "-BceAI" "" "Heterozygous" "Germline" "" "rs28934610" "0" "" "" "g.77156904G>A" "" "pathogenic" "" "0000378843" "0" "15" "11" "76913283" "76913283" "subst" "0" "02419" "MYO7A_000462" "g.76913283A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyCH4III;-XcmI;-FatI;-NlaIII;-CviAII;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77202238A>G" "" "likely benign" "ACMG" "0000378844" "21" "75" "11" "76868037" "76868037" "subst" "0" "02419" "MYO7A_000397" "g.76868037G>C" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:R241P} USMA-{MSV3dQ13402:p.Arg241Pro}" "+HphI;-HpyCH4IV;-PmlI;-AflIII;-BsaAI;" "" "Heterozygous; UV4" "Germline" "" "" "0" "" "" "g.77156991G>C" "" "VUS" "ACMG" "0000378845" "0" "15" "11" "76890362" "76890362" "subst" "0" "02419" "MYO7A_000395" "g.76890362A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+PvuII;+MspA1I;+AluI;+CviKI_1;-BsrI;-MmeI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77179316A>G" "" "likely benign" "ACMG" "0000378846" "0" "75" "11" "76871266" "76871266" "subst" "0" "02419" "MYO7A_000433" "g.76871266G>A" "0/93 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:E380K} USMA-{MSV3dQ13402:p.Glu380Lys}" "+BbsI;+MboII;-BsmBI;-BsmAI;-BsaXI;" "" "Heterozygous; UV2" "Germline" "" "" "0" "" "" "g.77160220G>A" "" "VUS" "ACMG" "0000378847" "0" "15" "11" "76905347" "76905347" "subst" "0" "02419" "MYO7A_000460" "g.76905347G>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BbsI;+MboII;-CviKI_1;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77194302G>T" "" "likely benign" "ACMG" "0000378848" "0" "35" "11" "76924975" "76924975" "subst" "0.000255846" "02419" "MYO7A_000461" "g.76924975C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:T2170I} USMA-{MSV3dQ13402:p.Thr2170Ile}" "-HphI" "" "Heterozygous; UV1" "Germline" "" "" "0" "" "" "g.77213930C>T" "" "likely benign" "ACMG" "0000378849" "0" "15" "11" "76869196" "76869196" "subst" "0" "02419" "MYO7A_000398" "g.76869196C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+TspRI;-MwoI;-HinP1I;-HaeII;-HhaI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77158150C>T" "" "likely benign" "ACMG" "0000378850" "0" "15" "11" "76886049" "76886049" "subst" "0" "02419" "MYO7A_000458" "g.76886049G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-FauI;-AciI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77175003G>A" "" "likely benign" "ACMG" "0000378851" "0" "15" "11" "76923545" "76923545" "subst" "0" "02419" "MYO7A_000396" "g.76923545G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+FatI;+NlaIII;+CviAII;-HpyCH4IV;-BmgBI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77212500G>A" "" "likely benign" "ACMG" "0000378852" "0" "15" "11" "76867730" "76867730" "subst" "0.0000243671" "02419" "MYO7A_000459" "g.76867730G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous; UV1" "Germline" "" "" "0" "" "" "g.77156684G>A" "" "likely benign" "ACMG" "0000378853" "0" "11" "11" "76918505" "76918505" "subst" "0" "02419" "MYO7A_000401" "g.76918505C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "rs76159522" "0" "" "" "g.77207460C>T" "" "benign" "" "0000378854" "0" "11" "11" "76885441" "76885441" "subst" "0" "02419" "MYO7A_000421" "g.76885441C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-HinP1I;-HhaI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77174395C>T" "" "benign" "" "0000378855" "0" "15" "11" "76858837" "76858837" "subst" "0.00483018" "02419" "MYO7A_000368" "g.76858837C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-FauI;-NlaIV;" "" "Heterozygous; UV1" "Germline" "" "rs111033221" "0" "" "" "g.77147791C>T" "" "likely benign" "ACMG" "0000378856" "0" "11" "11" "76877475" "76877475" "subst" "0" "02419" "MYO7A_000383" "g.76877475G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "rs2276280" "0" "" "" "g.77166429G>A" "" "benign" "" "0000378857" "0" "11" "11" "76926133" "76926133" "subst" "0" "02419" "MYO7A_000430" "g.76926133A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "rs144527614" "0" "" "" "g.77215088A>G" "" "benign" "" "0000378858" "0" "15" "11" "76873384" "76873384" "subst" "0.00256038" "02419" "MYO7A_000457" "g.76873384G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BsrI;-MspI;-HpaII;-Sau96I;-AvaII;-BsrFI;" "" "Heterozygous; UV1" "Germline" "" "rs111033227" "0" "" "" "g.77162338G>A" "" "likely benign" "ACMG" "0000378859" "0" "11" "11" "76893341" "76893341" "subst" "0" "02419" "MYO7A_000379" "g.76893341G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+PstI;-TspRI;-HpyCH4V;-NlaIV;-BanI;-AciI;" "" "Heterozygous" "Germline" "" "rs45595339" "0" "" "" "g.77182296G>A" "" "benign" "" "0000378860" "20" "11" "11" "76853783" "76853783" "subst" "0.392567" "02419" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous; Neutral" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000378861" "10" "11" "11" "76916645" "76916645" "subst" "0.0155035" "02419" "MYO7A_000392" "g.76916645G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MlyI;+PleI;+HinfI;-BceAI;-NlaIV;-CviKI_1;" "" "Homozygous; UV1" "Germline" "" "rs45450893" "0" "" "" "g.77205600G>A" "" "benign" "" "0000378862" "20" "11" "11" "76916645" "76916645" "subst" "0.0155035" "02419" "MYO7A_000392" "g.76916645G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MlyI;+PleI;+HinfI;-BceAI;-NlaIV;-CviKI_1;" "" "Homozygous; UV1" "Germline" "" "rs45450893" "0" "" "" "g.77205600G>A" "" "benign" "" "0000378863" "10" "11" "11" "76853783" "76853783" "subst" "0.392567" "02419" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous; Neutral" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000378864" "0" "99" "11" "76885871" "76885871" "subst" "0.0000204165" "02419" "MYO7A_000209" "g.76885871C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+DdeI;+BspCNI;+MspA1I;+BlpI;-BglI;-EciI;" "" "Heterozygous" "Germline" "" "rs111033201" "0" "" "" "g.77174825C>T" "" "pathogenic" "" "0000378865" "0" "99" "11" "76873967" "76873967" "dup" "0" "02419" "MYO7A_000227" "g.76873967dup" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77162921dup" "" "pathogenic" "" "0000378866" "0" "35" "11" "76885923" "76885923" "subst" "0.000313556" "02419" "MYO7A_000439" "g.76885923G>A" "1/876 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:R686H} USMA-{MSV3dQ13402:p.Arg686His}" "+FatI;+NlaIII;+CviAII;-HpyCH4III;" "" "Heterozygous; UV1" "Germline" "" "" "0" "" "" "g.77174877G>A" "" "likely benign" "ACMG" "0000378867" "0" "15" "11" "76914152" "76914152" "subst" "0" "02419" "MYO7A_000456" "g.76914152G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:R1739Q} USMA-{MSV3dQ13402:p.Arg1739Gln}" "+StyI;-MnlI;-BsoBI;-AvaI;" "" "Heterozygous; UV1" "Germline" "" "" "0" "" "" "g.77203107G>A" "" "likely benign" "ACMG" "0000378868" "0" "11" "11" "76924798" "76924798" "subst" "0" "02419" "MYO7A_000387" "g.76924798G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BpmI;-EaeI;-MspI;-HpaII;-PhoI;-HaeIII;" "" "Heterozygous" "Germline" "" "rs112547621" "0" "" "" "g.77213753G>A" "" "benign" "" "0000378869" "0" "11" "11" "76924985" "76924985" "subst" "0.0111808" "02419" "MYO7A_000116" "g.76924985C>T" "15/842 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Tsp509I;+ApoI;" "" "Heterozygous; Neutral" "Germline" "" "rs111033230" "0" "" "" "g.77213940C>T" "" "benign" "" "0000378870" "0" "11" "11" "76925049" "76925049" "subst" "0.0167731" "02419" "MYO7A_000115" "g.76925049A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+PspGI;+BssKI;+ScrFI;+StyD4I;+BstNI;-BfaI;" "" "Heterozygous; Neutral" "Germline" "" "" "0" "" "" "g.77214004A>G" "" "benign" "" "0000378871" "0" "11" "11" "76925609" "76925609" "subst" "0.016191" "02419" "MYO7A_000114" "g.76925609T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+NlaIV" "" "Heterozygous; Neutral" "Germline" "" "rs112028203" "0" "" "" "g.77214564T>C" "" "benign" "" "0000378872" "21" "15" "11" "76905407" "76905407" "subst" "0" "02419" "MYO7A_000453" "g.76905407C>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:D1387E} USMA-{MSV3dQ13402:p.Asp1387Glu}" "+BsrI;-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Heterozygous; UV1" "Germline" "" "" "0" "" "" "g.77194362C>A" "" "likely benign" "ACMG" "0000378873" "0" "75" "11" "76869450" "76869450" "subst" "0" "02419" "MYO7A_000248" "g.76869450T>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:L326Q} USMA-{MSV3dQ13402:p.Leu326Gln}" "+PflMI;+AlwNI;-BsgI;-HpyCH4V;" "" "Heterozygous; UV2" "Germline" "" "" "0" "" "" "g.77158404T>A" "" "VUS" "ACMG" "0000378874" "10" "99" "11" "76903302" "76903302" "dup" "0" "02419" "MYO7A_000452" "g.76903302dup" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77192257dup" "" "pathogenic" "" "0000378875" "0" "11" "11" "76909470" "76909470" "subst" "0" "02419" "MYO7A_000446" "g.76909470G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MscI;-BceAI;" "" "Heterozygous" "Germline" "" "rs12276114" "0" "" "" "g.77198425G>A" "" "benign" "" "0000378876" "0" "11" "11" "76913457" "76913457" "subst" "0.0161284" "02419" "MYO7A_000081" "g.76913457A>G" "9/864 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:Y1719C} USMA-{MSV3dQ13402:p.Tyr1719Cys}" "+Tsp45I" "" "Heterozygous; Neutral" "Germline" "" "rs77625410" "0" "" "" "g.77202412A>G" "" "benign" "" "0000378877" "0" "11" "11" "76916464" "76916464" "subst" "0.00535943" "02419" "MYO7A_000109" "g.76916464C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous; Neutral" "Germline" "" "rs113422380" "0" "" "" "g.77205419C>T" "" "benign" "" "0000378878" "0" "11" "11" "76919978" "76919978" "subst" "0" "02419" "MYO7A_000413" "g.76919978C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188III" "" "Heterozygous" "Germline" "" "rs111416657" "0" "" "" "g.77208933C>T" "" "benign" "" "0000378879" "21" "95" "11" "76892635" "76892635" "subst" "0.0000122586" "02419" "MYO7A_000205" "g.76892635G>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:E968D} USMA-{MSV3dQ13402:p.Glu968Asp}" "-MnlI;-KpnI;-NlaIV;-BanI;-Acc65I;" "" "Heterozygous; UV4" "Germline" "" "rs111033233" "0" "" "" "g.77181589G>T" "" "VUS" "ACMG" "0000378880" "0" "11" "11" "76919484" "76919484" "subst" "0.00396369" "02419" "MYO7A_000376" "g.76919484G>A" "2/846 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:V1956I} USMA-{MSV3dQ13402:p.Val1956Ile}" "+BsmI" "" "Heterozygous; UV1" "Germline" "" "rs142293185" "0" "" "" "g.77208439G>A" "" "benign" "" "0000378881" "21" "99" "11" "76905539" "76905539" "subst" "0.00000868229" "02419" "MYO7A_000321" "g.76905539G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-NlaIV;-ApaI;-BaeGI;-PspOMI;-HaeIII;-SfiI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77194494G>A" "" "pathogenic" "" "0000378882" "11" "95" "11" "76890889" "76890889" "subst" "0.00123187" "02419" "MYO7A_000013" "g.76890889G>A" "2/840 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Heterozygous; UV4" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000378883" "0" "35" "11" "76914181" "76914181" "subst" "0" "02419" "MYO7A_000450" "g.76914181C>T" "1/862 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:R1749W} USMA-{MSV3dQ13402:p.Arg1749Trp}" "+HpyCH4IV;+PmlI;+AflIII;-BstUI;-FauI;-MwoI;" "" "Heterozygous; UV1" "Germline" "" "" "0" "" "" "g.77203136C>T" "" "likely benign" "ACMG" "0000378884" "0" "11" "11" "76926133" "76926133" "subst" "0" "02419" "MYO7A_000430" "g.76926133A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "rs144527614" "0" "" "" "g.77215088A>G" "" "benign" "" "0000378885" "0" "11" "11" "76926133" "76926133" "subst" "0" "02419" "MYO7A_000430" "g.76926133A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "rs144527614" "0" "" "" "g.77215088A>G" "" "benign" "" "0000378886" "0" "15" "11" "76871199" "76871199" "subst" "0" "02419" "MYO7A_000449" "g.76871199C>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+CviKI_1;-EcoNI;-BslI;" "" "Heterozygous; UV1" "Germline" "" "" "0" "" "" "g.77160153C>G" "" "likely benign" "ACMG" "0000378887" "21" "99" "11" "76873967" "76873967" "dup" "0" "02419" "MYO7A_000227" "g.76873967dup" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77162921dup" "" "pathogenic" "" "0000378888" "0" "99" "11" "76901755" "76901755" "del" "0" "02419" "MYO7A_000165" "g.76901755del" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188III" "" "Heterozygous" "Germline" "" "rs111033347" "0" "" "" "g.77190710del" "" "pathogenic" "" "0000378889" "0" "11" "11" "76853783" "76853783" "subst" "0.392567" "02419" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Heterozygous; Neutral" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000378890" "0" "99" "11" "76858842" "76858842" "subst" "0" "02419" "MYO7A_000200" "g.76858842A>G" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BstUI;+SacII;+BsaJI;+MspA1I;+BtgI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77147796A>G" "" "pathogenic" "" "0000378891" "21" "99" "11" "76901153" "76901153" "subst" "0.0000764877" "02419" "MYO7A_000033" "g.76901153G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:R1240Q} USMA-{MSV3dQ13402:p.Arg1240Gln}" "none" "" "Heterozygous" "Germline" "" "rs111033178" "0" "" "" "g.77190108G>A" "" "pathogenic" "" "0000378892" "0" "15" "11" "76909678" "76909678" "subst" "0.0108829" "02419" "MYO7A_000448" "g.76909678C>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MspI;+HpaII;+NaeI;-FauI;-Sau96I;-AciI;" "" "Heterozygous; Neutral" "Germline" "" "rs72933642" "0" "" "" "g.77198633C>G" "" "likely benign" "ACMG" "0000378893" "0" "11" "11" "76909470" "76909470" "subst" "0" "02419" "MYO7A_000446" "g.76909470G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MscI;-BceAI;" "" "Heterozygous" "Germline" "" "rs12276114" "0" "" "" "g.77198425G>A" "" "benign" "" "0000378894" "0" "11" "11" "76912590" "76912590" "subst" "0.00452049" "02419" "MYO7A_000447" "g.76912590C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BceAI" "" "Heterozygous; UV1" "Germline" "" "rs80033599" "0" "" "" "g.77201545C>T" "" "benign" "" "0000378895" "0" "11" "11" "76918505" "76918505" "subst" "0" "02419" "MYO7A_000401" "g.76918505C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "rs76159522" "0" "" "" "g.77207460C>T" "" "benign" "" "0000378896" "0" "11" "11" "76916464" "76916464" "subst" "0.00535943" "02419" "MYO7A_000109" "g.76916464C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous; Neutral" "Germline" "" "rs113422380" "0" "" "" "g.77205419C>T" "" "benign" "" "0000378897" "0" "11" "11" "76877475" "76877475" "subst" "0" "02419" "MYO7A_000383" "g.76877475G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "rs2276280" "0" "" "" "g.77166429G>A" "" "benign" "" "0000378898" "21" "11" "11" "76866955" "76866955" "subst" "0.0156793" "02419" "MYO7A_000393" "g.76866955G>A" "14/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Hpy166II;-HpyCH4IV;-BstZ17I;-AccI;" "" "Heterozygous; Neutral" "Germline" "" "rs56023295" "0" "" "" "g.77155909G>A" "" "benign" "" "0000378899" "0" "11" "11" "76924985" "76924985" "subst" "0.0111808" "02419" "MYO7A_000116" "g.76924985C>T" "15/842 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Tsp509I;+ApoI;" "" "Heterozygous; Neutral" "Germline" "" "rs111033230" "0" "" "" "g.77213940C>T" "" "benign" "" "0000378900" "0" "35" "11" "76869378" "76869378" "subst" "0.00261705" "02419" "MYO7A_000003" "g.76869378G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:R302H} USMA-{MSV3dQ13402:p.Arg302His}" "-BsrBI;-AciI;" "" "Heterozygous; UV1" "Germline" "" "rs41298135" "0" "" "" "g.77158332G>A" "" "likely benign" "ACMG" "0000378901" "0" "15" "11" "76858837" "76858837" "subst" "0.00483018" "02419" "MYO7A_000368" "g.76858837C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-FauI;-NlaIV;" "" "Heterozygous; UV1" "Germline" "" "rs111033221" "0" "" "" "g.77147791C>T" "" "likely benign" "ACMG" "0000378902" "0" "15" "11" "76858837" "76858837" "subst" "0.00483018" "02419" "MYO7A_000368" "g.76858837C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-FauI;-NlaIV;" "" "Heterozygous; UV1" "Germline" "" "rs111033221" "0" "" "" "g.77147791C>T" "" "likely benign" "ACMG" "0000378903" "0" "15" "11" "76873229" "76873229" "subst" "0" "02419" "MYO7A_000443" "g.76873229G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-PmlI;-AflIII;" "" "Heterozygous; UV1" "Germline" "" "" "0" "" "" "g.77162183G>A" "" "likely benign" "ACMG" "0000378904" "0" "11" "11" "76885441" "76885441" "subst" "0" "02419" "MYO7A_000421" "g.76885441C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-HinP1I;-HhaI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77174395C>T" "" "benign" "" "0000378905" "0" "11" "11" "76916624" "76916624" "subst" "0.00215877" "02419" "MYO7A_000440" "g.76916624C>A" "2/864 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BfaI;+CviKI_1;" "" "Heterozygous; UV1" "Germline" "" "rs111033504" "0" "" "" "g.77205579C>A" "" "benign" "" "0000378906" "0" "11" "11" "76873949" "76873949" "subst" "0.00307822" "02419" "MYO7A_000262" "g.76873949C>T" "2/864 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous; Neutral" "Germline" "" "rs111033228" "0" "" "" "g.77162903C>T" "" "benign" "" "0000378907" "0" "15" "11" "76873857" "76873857" "subst" "0.00985892" "02419" "MYO7A_000391" "g.76873857T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-NcoI;-FatI;-NlaIII;-CviAII;-StyI;" "" "Heterozygous" "Germline" "" "rs41298141" "0" "" "" "g.77162811T>C" "" "likely benign" "ACMG" "0000378908" "0" "11" "11" "76919484" "76919484" "subst" "0.00396369" "02419" "MYO7A_000376" "g.76919484G>A" "2/846 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:V1956I} USMA-{MSV3dQ13402:p.Val1956Ile}" "+BsmI" "" "Heterozygous; UV1" "Germline" "" "rs142293185" "0" "" "" "g.77208439G>A" "" "benign" "" "0000378909" "0" "35" "11" "76885923" "76885923" "subst" "0.000313556" "02419" "MYO7A_000439" "g.76885923G>A" "1/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:R686H} USMA-{MSV3dQ13402:p.Arg686His}" "+FatI;+NlaIII;+CviAII;-HpyCH4III;" "" "Heterozygous; UV1" "Germline" "" "" "0" "" "" "g.77174877G>A" "" "likely benign" "ACMG" "0000378910" "0" "11" "11" "76918505" "76918505" "subst" "0" "02419" "MYO7A_000401" "g.76918505C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "rs76159522" "0" "" "" "g.77207460C>T" "" "benign" "" "0000378911" "0" "11" "11" "76924798" "76924798" "subst" "0" "02419" "MYO7A_000387" "g.76924798G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BpmI;-EaeI;-MspI;-HpaII;-PhoI;-HaeIII;" "" "Heterozygous" "Germline" "" "rs112547621" "0" "" "" "g.77213753G>A" "" "benign" "" "0000378912" "0" "11" "11" "76925609" "76925609" "subst" "0.016191" "02419" "MYO7A_000114" "g.76925609T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+NlaIV" "" "Heterozygous; Neutral" "Germline" "" "rs112028203" "0" "" "" "g.77214564T>C" "" "benign" "" "0000378913" "0" "11" "11" "76925971" "76925971" "subst" "0" "02419" "MYO7A_000384" "g.76925971A>G" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+BfaI" "" "Heterozygous" "Germline" "" "rs112830819" "0" "" "" "g.77214926A>G" "" "benign" "" "0000378914" "11" "11" "11" "76913457" "76913457" "subst" "0.0161284" "02419" "MYO7A_000081" "g.76913457A>G" "9/864 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:Y1719C} USMA-{MSV3dQ13402:p.Tyr1719Cys}" "+Tsp45I" "" "Heterozygous; Neutral" "Germline" "" "rs77625410" "0" "" "" "g.77202412A>G" "" "benign" "" "0000378915" "0" "11" "11" "76926245" "76926245" "subst" "0" "02419" "MYO7A_000372" "g.76926245C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188I" "" "Heterozygous" "Germline" "" "rs34765389" "0" "" "" "g.77215200C>T" "" "benign" "" "0000378916" "0" "11" "11" "76893341" "76893341" "subst" "0" "02419" "MYO7A_000379" "g.76893341G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+PstI;-TspRI;-HpyCH4V;-NlaIV;-BanI;-AciI;" "" "Heterozygous" "Germline" "" "rs45595339" "0" "" "" "g.77182296G>A" "" "benign" "" "0000378917" "0" "11" "11" "76926133" "76926133" "subst" "0" "02419" "MYO7A_000430" "g.76926133A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "rs144527614" "0" "" "" "g.77215088A>G" "" "benign" "" "0000378918" "0" "11" "11" "76903033" "76903033" "subst" "0" "02419" "MYO7A_000400" "g.76903033G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "rs73495787" "0" "" "" "g.77191988G>A" "" "benign" "" "0000378919" "0" "11" "11" "76918505" "76918505" "subst" "0" "02419" "MYO7A_000401" "g.76918505C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "rs76159522" "0" "" "" "g.77207460C>T" "" "benign" "" "0000378920" "0" "11" "11" "76924985" "76924985" "subst" "0.0111808" "02419" "MYO7A_000116" "g.76924985C>T" "15/842 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Tsp509I;+ApoI;" "" "Heterozygous; Neutral" "Germline" "" "rs111033230" "0" "" "" "g.77213940C>T" "" "benign" "" "0000378921" "0" "11" "11" "76925609" "76925609" "subst" "0.016191" "02419" "MYO7A_000114" "g.76925609T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+NlaIV" "" "Heterozygous; Neutral" "Germline" "" "rs112028203" "0" "" "" "g.77214564T>C" "" "benign" "" "0000378922" "0" "11" "11" "76925971" "76925971" "subst" "0" "02419" "MYO7A_000384" "g.76925971A>G" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+BfaI" "" "Heterozygous" "Germline" "" "rs112830819" "0" "" "" "g.77214926A>G" "" "benign" "" "0000378923" "0" "11" "11" "76913457" "76913457" "subst" "0.0161284" "02419" "MYO7A_000081" "g.76913457A>G" "9/864 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:Y1719C} USMA-{MSV3dQ13402:p.Tyr1719Cys}" "+Tsp45I" "" "Heterozygous; Neutral" "Germline" "" "rs77625410" "0" "" "" "g.77202412A>G" "" "benign" "" "0000378924" "0" "15" "11" "76925583" "76925583" "subst" "0" "02419" "MYO7A_000409" "g.76925583T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BceAI;+NlaIV;+BslI;-AluI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77214538T>C" "" "likely benign" "ACMG" "0000378925" "0" "11" "11" "76926245" "76926245" "subst" "0" "02419" "MYO7A_000372" "g.76926245C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188I" "" "Heterozygous" "Germline" "" "rs34765389" "0" "" "" "g.77215200C>T" "" "benign" "" "0000378926" "0" "11" "11" "76919978" "76919978" "subst" "0" "02419" "MYO7A_000413" "g.76919978C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188III" "" "Heterozygous" "Germline" "" "rs111416657" "0" "" "" "g.77208933C>T" "" "benign" "" "0000378927" "0" "11" "11" "76885441" "76885441" "subst" "0" "02419" "MYO7A_000421" "g.76885441C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-HinP1I;-HhaI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77174395C>T" "" "benign" "" "0000378928" "0" "11" "11" "76926245" "76926245" "subst" "0" "02419" "MYO7A_000372" "g.76926245C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188I" "" "Heterozygous" "Germline" "" "rs34765389" "0" "" "" "g.77215200C>T" "" "benign" "" "0000378929" "20" "11" "11" "76916645" "76916645" "subst" "0.0155035" "02419" "MYO7A_000392" "g.76916645G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MlyI;+PleI;+HinfI;-BceAI;-NlaIV;-CviKI_1;" "" "Homozygous; UV1" "Germline" "" "rs45450893" "0" "" "" "g.77205600G>A" "" "benign" "" "0000378930" "10" "11" "11" "76916645" "76916645" "subst" "0.0155035" "02419" "MYO7A_000392" "g.76916645G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MlyI;+PleI;+HinfI;-BceAI;-NlaIV;-CviKI_1;" "" "Homozygous; UV1" "Germline" "" "rs45450893" "0" "" "" "g.77205600G>A" "" "benign" "" "0000378931" "0" "99" "11" "76918415" "76918415" "subst" "0.0000124305" "02419" "MYO7A_000370" "g.76918415G>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-MnlI" "" "Heterozygous" "Germline" "" "rs111033192" "0" "" "" "g.77207370G>T" "" "pathogenic" "" "0000378932" "11" "99" "11" "76853809" "76853809" "subst" "0.00000825137" "02419" "MYO7A_000134" "g.76853809G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:G25R} USMA-{MSV3dQ13402:p.Gly25Arg}" "none" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77142763G>A" "" "pathogenic" "" "0000378933" "0" "11" "11" "76926245" "76926245" "subst" "0" "02419" "MYO7A_000372" "g.76926245C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188I" "" "Heterozygous" "Germline" "" "rs34765389" "0" "" "" "g.77215200C>T" "" "benign" "" "0000378934" "0" "15" "11" "76871091" "76871091" "subst" "0" "02419" "MYO7A_000436" "g.76871091C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BspMI;+BfuAI;-Cac8I;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77160045C>T" "" "likely benign" "ACMG" "0000378935" "0" "99" "11" "76872076" "76872076" "subst" "0.0000162858" "02419" "MYO7A_000329" "g.76872076A>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+BfaI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77161030A>T" "" "pathogenic" "" "0000378936" "0" "99" "11" "76910849" "76910849" "del" "0.00000838406" "02419" "MYO7A_000236" "g.76910849del" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+BstEII;+BspMI;+BfuAI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77199804del" "" "pathogenic" "" "0000378937" "0" "15" "11" "76926157" "76926157" "subst" "0" "02419" "MYO7A_000435" "g.76926157C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+AcuI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77215112C>T" "" "likely benign" "ACMG" "0000378938" "11" "35" "11" "76909603" "76909603" "subst" "0.00000812612" "02419" "MYO7A_000438" "g.76909603A>G" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:D1502G} USMA-{MSV3dQ13402:p.Asp1502Gly}" "+HphI;-BtsCI;-FokI;" "" "Heterozygous; UV1" "Germline" "" "" "0" "" "" "g.77198558A>G" "" "likely benign" "ACMG" "0000378939" "10" "99" "11" "76853829" "76853829" "subst" "0.0000375447" "02419" "MYO7A_000012" "g.76853829C>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188I;+BsmAI;+DdeI;+BspCNI;" "" "Heterozygous" "Germline" "" "rs35689081" "0" "" "" "g.77142783C>A" "" "pathogenic" "" "0000378940" "0" "15" "11" "76867180" "76867180" "subst" "0.00114945" "02419" "MYO7A_000389" "g.76867180T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+NlaIV;-BfaI;" "" "Heterozygous" "Germline" "" "rs61899977" "0" "" "" "g.77156134T>C" "" "likely benign" "ACMG" "0000378941" "0" "15" "11" "76910856" "76910856" "subst" "0.00129104" "02419" "MYO7A_000390" "g.76910856C>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous; UV1" "Germline" "" "rs61900036" "0" "" "" "g.77199811C>A" "" "likely benign" "ACMG" "0000378942" "0" "11" "11" "76925641" "76925641" "subst" "0.0181384" "02419" "MYO7A_000106" "g.76925641C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+MnlI" "" "Heterozygous; Neutral" "Germline" "" "rs34517202" "0" "" "" "g.77214596C>T" "" "benign" "" "0000378943" "0" "75" "11" "76917153" "76917153" "subst" "0.000032902" "02419" "MYO7A_000233" "g.76917153G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:R1883Q} USMA-{MSV3dQ13402:p.Arg1883Gln}" "-BssKI;-StyD4I;-MspI;-HpaII;-ScrFI;-NciI;" "" "Heterozygous; UV4" "Germline" "" "rs111033215" "0" "" "" "g.77206108G>A" "" "VUS" "ACMG" "0000378944" "0" "11" "11" "76925641" "76925641" "subst" "0.0181384" "02419" "MYO7A_000106" "g.76925641C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+MnlI" "" "Heterozygous; Neutral" "Germline" "" "rs34517202" "0" "" "" "g.77214596C>T" "" "benign" "" "0000378945" "0" "11" "11" "76877475" "76877475" "subst" "0" "02419" "MYO7A_000383" "g.76877475G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "rs2276280" "0" "" "" "g.77166429G>A" "" "benign" "" "0000378946" "0" "11" "11" "76926245" "76926245" "subst" "0" "02419" "MYO7A_000372" "g.76926245C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188I" "" "Heterozygous" "Germline" "" "rs34765389" "0" "" "" "g.77215200C>T" "" "benign" "" "0000378947" "0" "15" "11" "76886443" "76886443" "subst" "0.000073169" "02419" "MYO7A_000434" "g.76886443G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:R707H} USMA-{MSV3dQ13402:p.Arg707His}" "-HinP1I;-HhaI;" "" "Heterozygous; UV1" "Germline" "" "" "0" "" "" "g.77175397G>A" "" "likely benign" "ACMG" "0000378948" "0" "15" "11" "76873857" "76873857" "subst" "0.00985892" "02419" "MYO7A_000391" "g.76873857T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-NcoI;-FatI;-NlaIII;-CviAII;-StyI;" "" "Heterozygous" "Germline" "" "rs41298141" "0" "" "" "g.77162811T>C" "" "likely benign" "ACMG" "0000378949" "0" "11" "11" "76926245" "76926245" "subst" "0" "02419" "MYO7A_000372" "g.76926245C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188I" "" "Heterozygous" "Germline" "" "rs34765389" "0" "" "" "g.77215200C>T" "" "benign" "" "0000378950" "0" "11" "11" "76926245" "76926245" "subst" "0" "02419" "MYO7A_000372" "g.76926245C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188I" "" "Heterozygous" "Germline" "" "rs34765389" "0" "" "" "g.77215200C>T" "" "benign" "" "0000378951" "0" "11" "11" "76916645" "76916645" "subst" "0.0155035" "02419" "MYO7A_000392" "g.76916645G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MlyI;+PleI;+HinfI;-BceAI;-NlaIV;-CviKI_1;" "" "Heterozygous; UV1" "Germline" "" "rs45450893" "0" "" "" "g.77205600G>A" "" "benign" "" "0000378952" "0" "11" "11" "76926245" "76926245" "subst" "0" "02419" "MYO7A_000372" "g.76926245C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188I" "" "Heterozygous" "Germline" "" "rs34765389" "0" "" "" "g.77215200C>T" "" "benign" "" "0000378953" "0" "11" "11" "76926133" "76926133" "subst" "0" "02419" "MYO7A_000430" "g.76926133A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "rs144527614" "0" "" "" "g.77215088A>G" "" "benign" "" "0000378954" "20" "35" "11" "76919840" "76919840" "subst" "0" "02419" "MYO7A_000217" "g.76919840T>C" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:Y2015H} USMA-{MSV3dQ13402:p.Tyr2015His}" "+BslI" "" "Homozygous; UV2" "Germline" "" "" "0" "" "" "g.77208795T>C" "" "likely benign" "ACMG" "0000378955" "10" "35" "11" "76919840" "76919840" "subst" "0" "02419" "MYO7A_000217" "g.76919840T>C" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:Y2015H} USMA-{MSV3dQ13402:p.Tyr2015His}" "+BslI" "" "Homozygous; UV2" "Germline" "" "" "0" "" "" "g.77208795T>C" "" "likely benign" "ACMG" "0000378956" "0" "11" "11" "76926245" "76926245" "subst" "0" "02419" "MYO7A_000372" "g.76926245C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188I" "" "Heterozygous" "Germline" "" "rs34765389" "0" "" "" "g.77215200C>T" "" "benign" "" "0000378957" "0" "35" "11" "76867903" "76867903" "subst" "0.0146212" "02419" "MYO7A_000298" "g.76867903C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+PstI;+HpyCH4V;+SfcI;-AciI;" "" "Heterozygous; UV1" "Germline" "" "rs762666" "0" "" "" "g.77156857C>T" "" "likely benign" "ACMG" "0000378958" "0" "35" "11" "76891450" "76891450" "subst" "0.00102625" "02419" "MYO7A_000426" "g.76891450C>T" "1/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:R873W} USMA-{MSV3dQ13402:p.Arg873Trp}" "-Fnu4HI;-AciI;" "" "Heterozygous; UV1" "Germline" "" "" "0" "" "" "g.77180404C>T" "" "likely benign" "ACMG" "0000378959" "0" "15" "11" "76920074" "76920074" "subst" "0" "02419" "MYO7A_000427" "g.76920074T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MnlI;-AluI;" "" "Heterozygous" "Germline" "" "rs114305432" "0" "" "" "g.77209029T>C" "" "likely benign" "ACMG" "0000378960" "0" "99" "11" "76924019" "76924019" "del" "0" "02419" "MYO7A_000428" "g.76924019del" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188III" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77212974del" "" "pathogenic" "" "0000378961" "0" "35" "11" "76925719" "76925719" "subst" "0" "02419" "MYO7A_000429" "g.76925719G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:R2209Q} USMA-{MSV3dQ13402:p.Arg2209Gln}" "-FauI;-MspA1I;-AciI;" "" "Heterozygous; UV1" "Germline" "" "" "0" "" "" "g.77214674G>A" "" "likely benign" "ACMG" "0000378962" "0" "75" "11" "76901152" "76901152" "subst" "0" "02419" "MYO7A_000152" "g.76901152C>T" "0/192 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:R1240W} USMA-{MSV3dQ13402:p.Arg1240Trp}" "+FatI;+NlaIII;+CviAII;" "" "Heterozygous; UV3" "Germline" "" "" "0" "" "" "g.77190107C>T" "" "VUS" "ACMG" "0000378963" "0" "11" "11" "76916645" "76916645" "subst" "0.0155035" "02419" "MYO7A_000392" "g.76916645G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MlyI;+PleI;+HinfI;-BceAI;-NlaIV;-CviKI_1;" "" "Heterozygous; UV1" "Germline" "" "rs45450893" "0" "" "" "g.77205600G>A" "" "benign" "" "0000378964" "0" "15" "11" "76922459" "76922459" "subst" "0" "02419" "MYO7A_000425" "g.76922459C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-TspRI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77211414C>T" "" "likely benign" "ACMG" "0000378965" "0" "11" "11" "76926245" "76926245" "subst" "0" "02419" "MYO7A_000372" "g.76926245C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188I" "" "Heterozygous" "Germline" "" "rs34765389" "0" "" "" "g.77215200C>T" "" "benign" "" "0000378966" "11" "11" "11" "76866955" "76866955" "subst" "0.0156793" "02419" "MYO7A_000393" "g.76866955G>A" "14/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Hpy166II;-HpyCH4IV;-BstZ17I;-AccI;" "" "Heterozygous; Neutral" "Germline" "" "rs56023295" "0" "" "" "g.77155909G>A" "" "benign" "" "0000378967" "0" "11" "11" "76926245" "76926245" "subst" "0" "02419" "MYO7A_000372" "g.76926245C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188I" "" "Heterozygous" "Germline" "" "rs34765389" "0" "" "" "g.77215200C>T" "" "benign" "" "0000378968" "0" "15" "11" "76873857" "76873857" "subst" "0.00985892" "02419" "MYO7A_000391" "g.76873857T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-NcoI;-FatI;-NlaIII;-CviAII;-StyI;" "" "Heterozygous" "Germline" "" "rs41298141" "0" "" "" "g.77162811T>C" "" "likely benign" "ACMG" "0000378969" "0" "15" "11" "76903032" "76903032" "subst" "0" "02419" "MYO7A_000423" "g.76903032C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-NlaIV" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77191987C>T" "" "likely benign" "ACMG" "0000378970" "0" "11" "11" "76918505" "76918505" "subst" "0" "02419" "MYO7A_000401" "g.76918505C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "rs76159522" "0" "" "" "g.77207460C>T" "" "benign" "" "0000378971" "0" "11" "11" "76924985" "76924985" "subst" "0.0111808" "02419" "MYO7A_000116" "g.76924985C>T" "15/842 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Tsp509I;+ApoI;" "" "Heterozygous; Neutral" "Germline" "" "rs111033230" "0" "" "" "g.77213940C>T" "" "benign" "" "0000378972" "0" "11" "11" "76925049" "76925049" "subst" "0.0167731" "02419" "MYO7A_000115" "g.76925049A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+PspGI;+BssKI;+ScrFI;+StyD4I;+BstNI;-BfaI;" "" "Heterozygous; Neutral" "Germline" "" "" "0" "" "" "g.77214004A>G" "" "benign" "" "0000378973" "0" "11" "11" "76925609" "76925609" "subst" "0.016191" "02419" "MYO7A_000114" "g.76925609T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+NlaIV" "" "Heterozygous; Neutral" "Germline" "" "rs112028203" "0" "" "" "g.77214564T>C" "" "benign" "" "0000378974" "0" "11" "11" "76913457" "76913457" "subst" "0.0161284" "02419" "MYO7A_000081" "g.76913457A>G" "9/864 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:Y1719C} USMA-{MSV3dQ13402:p.Tyr1719Cys}" "+Tsp45I" "" "Heterozygous; Neutral" "Germline" "" "rs77625410" "0" "" "" "g.77202412A>G" "" "benign" "" "0000378975" "0" "15" "11" "76837324" "76837324" "subst" "0" "02419" "MYO7A_000422" "g.76837324C>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MnlI;+HphI;-DdeI;-BspCNI;-AluI;-CviKI_1;" "c.-272-1986C>G" "Heterozygous" "Germline" "" "" "0" "" "" "g.77126278C>G" "" "likely benign" "ACMG" "0000378976" "0" "11" "11" "76885441" "76885441" "subst" "0" "02419" "MYO7A_000421" "g.76885441C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-HinP1I;-HhaI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77174395C>T" "" "benign" "" "0000378977" "0" "99" "11" "76873907" "76873907" "del" "0" "02419" "MYO7A_000194" "g.76873907del" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-MslI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77162861del" "" "pathogenic" "" "0000378978" "0" "99" "11" "76901755" "76901755" "del" "0" "02419" "MYO7A_000165" "g.76901755del" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188III" "" "Heterozygous" "Germline" "" "rs111033347" "0" "" "" "g.77190710del" "" "pathogenic" "" "0000378979" "0" "11" "11" "76925641" "76925641" "subst" "0.0181384" "02419" "MYO7A_000106" "g.76925641C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+MnlI" "" "Heterozygous; Neutral" "Germline" "" "rs34517202" "0" "" "" "g.77214596C>T" "" "benign" "" "0000378980" "0" "11" "11" "76919478" "76919478" "subst" "0.474337" "02419" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Heterozygous; Neutral" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000378981" "21" "35" "11" "76883813" "76883813" "subst" "0.000087272" "02419" "MYO7A_000419" "g.76883813G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:R606H} USMA-{MSV3dQ13402:p.Arg606His}" "-AfeI;-HinP1I;-HaeII;-HhaI;-Cac8I;" "" "Heterozygous; UV1" "Germline" "" "" "0" "" "" "g.77172767G>A" "" "likely benign" "ACMG" "0000378982" "10" "11" "11" "76901927" "76901927" "subst" "0.517928" "02419" "MYO7A_000042" "g.76901927C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous; Neutral" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000378983" "20" "11" "11" "76901927" "76901927" "subst" "0.517928" "02419" "MYO7A_000042" "g.76901927C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous; Neutral" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000378984" "0" "35" "11" "76873365" "76873365" "subst" "0.00031837" "02419" "MYO7A_000418" "g.76873365A>C" "1/834 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:K515Q} USMA-{MSV3dQ13402:p.Lys515Gln}" "+BsrI;+CviKI_1;" "" "Heterozygous; UV1" "Germline" "" "" "0" "" "" "g.77162319A>C" "" "likely benign" "ACMG" "0000378985" "20" "99" "11" "76893006" "76893006" "subst" "0.00000410142" "02419" "MYO7A_000244" "g.76893006C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77181960C>T" "" "pathogenic" "" "0000378986" "10" "99" "11" "76893006" "76893006" "subst" "0.00000410142" "02419" "MYO7A_000244" "g.76893006C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77181960C>T" "" "pathogenic" "" "0000378987" "21" "75" "11" "76885835" "76885835" "subst" "0" "02419" "MYO7A_000410" "g.76885835C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:R657W} USMA-{MSV3dQ13402:p.Arg657Trp}" "-BbvI;-Fnu4HI;-MwoI;-ApeKI;-TseI;-AciI;" "" "Heterozygous; UV1" "Germline" "" "" "0" "" "" "g.77174789C>T" "" "VUS" "ACMG" "0000378988" "0" "15" "11" "76925583" "76925583" "subst" "0" "02419" "MYO7A_000409" "g.76925583T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BceAI;+NlaIV;+BslI;-AluI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77214538T>C" "" "likely benign" "ACMG" "0000378989" "0" "35" "11" "76892617" "76892617" "subst" "0.000676689" "02419" "MYO7A_000408" "g.76892617G>C" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:Q962H} USMA-{MSV3dQ13402:p.Gln962His}" "-BssKI;-NlaIV;-StyD4I;-BstNI;-PspGI;-ScrFI;" "" "Heterozygous; UV1" "Germline" "" "" "0" "" "" "g.77181571G>C" "" "likely benign" "ACMG" "0000378990" "0" "15" "11" "76886381" "76886381" "subst" "0" "02419" "MYO7A_000407" "g.76886381G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+BsmAI;+HpyCH4III;-MnlI;-CviKI_1;" "" "Heterozygous" "Germline" "" "rs114310148" "0" "" "" "g.77175335G>A" "" "likely benign" "ACMG" "0000378991" "21" "95" "11" "76919562" "76919562" "subst" "0.00000822713" "02419" "MYO7A_000239" "g.76919562G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77208517G>A" "" "likely pathogenic" "ACMG" "0000378992" "11" "99" "11" "76885871" "76885871" "subst" "0.0000204165" "02419" "MYO7A_000209" "g.76885871C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+DdeI;+BspCNI;+MspA1I;+BlpI;-BglI;-EciI;" "" "Heterozygous" "Germline" "" "rs111033201" "0" "" "" "g.77174825C>T" "" "pathogenic" "" "0000378993" "0" "15" "11" "76869284" "76869284" "subst" "0" "02419" "MYO7A_000406" "g.76869284A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HgaI;+BsrI;-AatII;-ZraI;-HpyCH4IV;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77158238A>G" "" "likely benign" "ACMG" "0000378994" "0" "99" "11" "76918415" "76918415" "subst" "0.0000124305" "02419" "MYO7A_000370" "g.76918415G>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-MnlI" "" "Heterozygous" "Germline" "" "rs111033192" "0" "" "" "g.77207370G>T" "" "pathogenic" "" "0000378995" "0" "15" "11" "76858837" "76858837" "subst" "0.00483018" "02419" "MYO7A_000368" "g.76858837C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-FauI;-NlaIV;" "" "Heterozygous; UV1" "Germline" "" "rs111033221" "0" "" "" "g.77147791C>T" "" "likely benign" "ACMG" "0000378996" "20" "75" "11" "76913423" "76913423" "subst" "0" "02419" "MYO7A_000405" "g.76913423C>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:R1708S} USMA-{MSV3dQ13402:p.Arg1708Ser}" "+HphI;-MwoI;-Cac8I;" "" "Homozygous; UV1" "Germline" "" "" "0" "" "" "g.77202378C>A" "" "VUS" "ACMG" "0000378997" "10" "75" "11" "76913423" "76913423" "subst" "0" "02419" "MYO7A_000405" "g.76913423C>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:R1708S} USMA-{MSV3dQ13402:p.Arg1708Ser}" "+HphI;-MwoI;-Cac8I;" "" "Homozygous; UV1" "Germline" "" "" "0" "" "" "g.77202378C>A" "" "VUS" "ACMG" "0000378998" "10" "99" "11" "76893201" "76893201" "subst" "0" "02419" "MYO7A_000402" "g.76893201G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77182155G>A" "" "pathogenic" "" "0000378999" "20" "99" "11" "76893201" "76893201" "subst" "0" "02419" "MYO7A_000402" "g.76893201G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77182155G>A" "" "pathogenic" "" "0000379000" "20" "15" "11" "76910630" "76910630" "subst" "0.000387469" "02419" "MYO7A_000404" "g.76910630C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:A1540V} USMA-{MSV3dQ13402:p.Ala1540Val}" "-BbvI;-Fnu4HI;-ApeKI;-HinP1I;-TseI;-HhaI;" "" "Homozygous; UV1" "Germline" "" "rs111033511" "0" "" "" "g.77199585C>T" "" "likely benign" "ACMG" "0000379001" "10" "15" "11" "76910630" "76910630" "subst" "0.000387469" "02419" "MYO7A_000404" "g.76910630C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:A1540V} USMA-{MSV3dQ13402:p.Ala1540Val}" "-BbvI;-Fnu4HI;-ApeKI;-HinP1I;-TseI;-HhaI;" "" "Homozygous; UV1" "Germline" "" "rs111033511" "0" "" "" "g.77199585C>T" "" "likely benign" "ACMG" "0000379002" "10" "99" "11" "76900388" "76900388" "subst" "0.00000406997" "02419" "MYO7A_000196" "g.76900388G>C" "1/876 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BtgI;-BssKI;-StyD4I;-BstNI;-PspGI;-ScrFI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77189343G>C" "" "pathogenic" "" "0000379003" "0" "11" "11" "76903033" "76903033" "subst" "0" "02419" "MYO7A_000400" "g.76903033G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "rs73495787" "0" "" "" "g.77191988G>A" "" "benign" "" "0000379004" "0" "11" "11" "76913457" "76913457" "subst" "0.0161284" "02419" "MYO7A_000081" "g.76913457A>G" "9/864 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:Y1719C} USMA-{MSV3dQ13402:p.Tyr1719Cys}" "+Tsp45I" "" "Heterozygous; Neutral" "Germline" "" "rs77625410" "0" "" "" "g.77202412A>G" "" "benign" "" "0000379005" "0" "11" "11" "76918505" "76918505" "subst" "0" "02419" "MYO7A_000401" "g.76918505C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "rs76159522" "0" "" "" "g.77207460C>T" "" "benign" "" "0000379006" "0" "11" "11" "76924798" "76924798" "subst" "0" "02419" "MYO7A_000387" "g.76924798G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BpmI;-EaeI;-MspI;-HpaII;-PhoI;-HaeIII;" "" "Heterozygous" "Germline" "" "rs112547621" "0" "" "" "g.77213753G>A" "" "benign" "" "0000379007" "0" "11" "11" "76924985" "76924985" "subst" "0.0111808" "02419" "MYO7A_000116" "g.76924985C>T" "15/842 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Tsp509I;+ApoI;" "" "Heterozygous; Neutral" "Germline" "" "rs111033230" "0" "" "" "g.77213940C>T" "" "benign" "" "0000379008" "0" "11" "11" "76925609" "76925609" "subst" "0.016191" "02419" "MYO7A_000114" "g.76925609T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+NlaIV" "" "Heterozygous; Neutral" "Germline" "" "rs112028203" "0" "" "" "g.77214564T>C" "" "benign" "" "0000379009" "0" "11" "11" "76925971" "76925971" "subst" "0" "02419" "MYO7A_000384" "g.76925971A>G" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+BfaI" "" "Heterozygous" "Germline" "" "rs112830819" "0" "" "" "g.77214926A>G" "" "benign" "" "0000379010" "0" "99" "11" "76916599" "76916599" "subst" "0.0000247349" "02419" "MYO7A_000080" "g.76916599T>C" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:L1858P} USMA-{MSV3dQ13402:p.Leu1858Pro}" "+FauI;+AciI;-PstI;-HpyCH4V;-SfcI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77205554T>C" "" "likely pathogenic" "ACMG" "0000379011" "0" "11" "11" "76926245" "76926245" "subst" "0" "02419" "MYO7A_000372" "g.76926245C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188I" "" "Heterozygous" "Germline" "" "rs34765389" "0" "" "" "g.77215200C>T" "" "benign" "" "0000379012" "10" "11" "11" "76868372" "76868372" "subst" "0.388729" "02419" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous; Neutral" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000379013" "20" "11" "11" "76868372" "76868372" "subst" "0.388729" "02419" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous; Neutral" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000379014" "20" "99" "11" "76901153" "76901153" "subst" "0.0000764877" "02419" "MYO7A_000033" "g.76901153G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:R1240Q} USMA-{MSV3dQ13402:p.Arg1240Gln}" "none" "" "Heterozygous" "Germline" "" "rs111033178" "0" "" "" "g.77190108G>A" "" "pathogenic" "" "0000379015" "10" "11" "11" "76910766" "76910766" "subst" "0.51417" "02419" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+BsrI;-BsrDI;" "" "Homozygous; Neutral" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379016" "20" "11" "11" "76910766" "76910766" "subst" "0.51417" "02419" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+BsrI;-BsrDI;" "" "Homozygous; Neutral" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379017" "10" "11" "11" "76912636" "76912636" "subst" "0.550278" "02419" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous; Neutral" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379018" "20" "11" "11" "76912636" "76912636" "subst" "0.550278" "02419" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous; Neutral" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379019" "0" "11" "11" "76917220" "76917220" "subst" "0.516665" "02419" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous; Neutral" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379020" "0" "11" "11" "76922868" "76922868" "subst" "0.0258668" "02419" "MYO7A_000036" "g.76922868C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "-BccI" "" "Heterozygous; Neutral" "Germline" "" "rs41298757" "0" "" "" "g.77211823C>T" "" "benign" "" "0000379021" "0" "75" "11" "76925670" "76925670" "subst" "0" "02419" "MYO7A_000399" "g.76925670C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:L2193F} USMA-{MSV3dQ13402:p.Leu2193Phe}" "-MnlI" "" "Heterozygous; UV4" "Germline" "" "" "0" "" "" "g.77214625C>T" "" "VUS" "ACMG" "0000379022" "0" "11" "11" "76919478" "76919478" "subst" "0.474337" "02419" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Heterozygous; Neutral" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379023" "0" "15" "11" "76869196" "76869196" "subst" "0" "02419" "MYO7A_000398" "g.76869196C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+TspRI;-MwoI;-HinP1I;-HaeII;-HhaI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77158150C>T" "" "likely benign" "ACMG" "0000379024" "0" "15" "11" "76890362" "76890362" "subst" "0" "02419" "MYO7A_000395" "g.76890362A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+PvuII;+MspA1I;+AluI;+CviKI_1;-BsrI;-MmeI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77179316A>G" "" "likely benign" "ACMG" "0000379025" "0" "95" "11" "76919562" "76919562" "subst" "0.00000822713" "02419" "MYO7A_000239" "g.76919562G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77208517G>A" "" "likely pathogenic" "ACMG" "0000379026" "0" "15" "11" "76923545" "76923545" "subst" "0" "02419" "MYO7A_000396" "g.76923545G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+FatI;+NlaIII;+CviAII;-HpyCH4IV;-BmgBI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77212500G>A" "" "likely benign" "ACMG" "0000379027" "0" "75" "11" "76868037" "76868037" "subst" "0" "02419" "MYO7A_000397" "g.76868037G>C" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:R241P} USMA-{MSV3dQ13402:p.Arg241Pro}" "+HphI;-HpyCH4IV;-PmlI;-AflIII;-BsaAI;" "" "Heterozygous; UV4" "Germline" "" "" "0" "" "" "g.77156991G>C" "" "VUS" "ACMG" "0000379028" "11" "99" "11" "76867950" "76867950" "subst" "0.0000121841" "02419" "MYO7A_000004" "g.76867950G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:R212H} USMA-{MSV3dQ13402:p.Arg212His}" "-BceAI" "" "Heterozygous" "Germline" "" "rs28934610" "0" "" "" "g.77156904G>A" "" "pathogenic" "" "0000379029" "21" "99" "11" "76867955" "76867955" "subst" "0.00000406134" "02419" "MYO7A_000118" "g.76867955G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:G214R} USMA-{MSV3dQ13402:p.Gly214Arg}" "none" "" "Heterozygous" "Germline" "" "rs111033283" "0" "" "" "g.77156909G>A" "" "pathogenic" "" "0000379030" "0" "11" "11" "76866955" "76866955" "subst" "0.0156793" "02419" "MYO7A_000393" "g.76866955G>A" "14/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Hpy166II;-HpyCH4IV;-BstZ17I;-AccI;" "" "Heterozygous; Neutral" "Germline" "" "rs56023295" "0" "" "" "g.77155909G>A" "" "benign" "" "0000379031" "0" "11" "11" "76916645" "76916645" "subst" "0.0155035" "02419" "MYO7A_000392" "g.76916645G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MlyI;+PleI;+HinfI;-BceAI;-NlaIV;-CviKI_1;" "" "Heterozygous; UV1" "Germline" "" "rs45450893" "0" "" "" "g.77205600G>A" "" "benign" "" "0000379032" "0" "15" "11" "76873857" "76873857" "subst" "0.00985892" "02419" "MYO7A_000391" "g.76873857T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-NcoI;-FatI;-NlaIII;-CviAII;-StyI;" "" "Heterozygous" "Germline" "" "rs41298141" "0" "" "" "g.77162811T>C" "" "likely benign" "ACMG" "0000379033" "0" "15" "11" "76867180" "76867180" "subst" "0.00114945" "02419" "MYO7A_000389" "g.76867180T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+NlaIV;-BfaI;" "" "Heterozygous" "Germline" "" "rs61899977" "0" "" "" "g.77156134T>C" "" "likely benign" "ACMG" "0000379034" "10" "15" "11" "76910856" "76910856" "subst" "0.00129104" "02419" "MYO7A_000390" "g.76910856C>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous; UV1" "Germline" "" "rs61900036" "0" "" "" "g.77199811C>A" "" "likely benign" "ACMG" "0000379035" "0" "11" "11" "76868278" "76868278" "subst" "0.0959973" "02419" "MYO7A_000095" "g.76868278C>A" "" "{PMID:Le Quesne Stabej 2012:22135276}" "-BseRI" "" "Heterozygous; Neutral" "Germline" "" "rs3737454" "0" "" "" "g.77157232C>A" "" "benign" "" "0000379036" "0" "11" "11" "76877475" "76877475" "subst" "0" "02419" "MYO7A_000383" "g.76877475G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "rs2276280" "0" "" "" "g.77166429G>A" "" "benign" "" "0000379037" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02419" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+BsrI;-BsrDI;" "" "Heterozygous; Neutral" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379038" "0" "11" "11" "76912636" "76912636" "subst" "0.550278" "02419" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Heterozygous; Neutral" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379039" "21" "99" "11" "76913402" "76913402" "subst" "0" "02419" "MYO7A_000139" "g.76913402C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy166II" "" "Heterozygous" "Germline" "" "rs111033182" "0" "" "" "g.77202357C>T" "" "pathogenic" "" "0000379040" "0" "11" "11" "76922868" "76922868" "subst" "0.0258668" "02419" "MYO7A_000036" "g.76922868C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "-BccI" "" "Heterozygous; Neutral" "Germline" "" "rs41298757" "0" "" "" "g.77211823C>T" "" "benign" "" "0000379041" "0" "11" "11" "76919478" "76919478" "subst" "0.474337" "02419" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Heterozygous; Neutral" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379042" "0" "15" "11" "76858837" "76858837" "subst" "0.00483018" "02419" "MYO7A_000368" "g.76858837C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-FauI;-NlaIV;" "" "Heterozygous; UV1" "Germline" "" "rs111033221" "0" "" "" "g.77147791C>T" "" "likely benign" "ACMG" "0000379043" "0" "15" "11" "76873770" "76873770" "subst" "0" "02419" "MYO7A_000380" "g.76873770C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HgaI;-EcoNI;-HinP1I;-BslI;-HaeII;-HhaI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77162724C>T" "" "likely benign" "ACMG" "0000379044" "0" "11" "11" "76893341" "76893341" "subst" "0" "02419" "MYO7A_000379" "g.76893341G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+PstI;-TspRI;-HpyCH4V;-NlaIV;-BanI;-AciI;" "" "Heterozygous" "Germline" "" "rs45595339" "0" "" "" "g.77182296G>A" "" "benign" "" "0000379045" "21" "99" "11" "76901755" "76901755" "del" "0" "02419" "MYO7A_000165" "g.76901755del" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188III" "" "Heterozygous" "Germline" "" "rs111033347" "0" "" "" "g.77190710del" "" "pathogenic" "" "0000379046" "0" "11" "11" "76926245" "76926245" "subst" "0" "02419" "MYO7A_000372" "g.76926245C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188I" "" "Heterozygous" "Germline" "" "rs34765389" "0" "" "" "g.77215200C>T" "" "benign" "" "0000379047" "11" "99" "11" "76853813" "76853813" "subst" "0.00000412776" "02419" "MYO7A_000168" "g.76853813C>A" "1/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:A26E} USMA-{MSV3dQ13402:p.Ala26Glu}" "+MnlI;-AciI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77142767C>A" "" "pathogenic" "" "0000379048" "0" "15" "11" "76920206" "76920206" "subst" "0" "02419" "MYO7A_000378" "g.76920206C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BseYI;+AluI;-BssKI;-StyD4I;-MspI;-HpaII;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77209161C>T" "" "likely benign" "ACMG" "0000379049" "0" "11" "11" "76919484" "76919484" "subst" "0.00396369" "02419" "MYO7A_000376" "g.76919484G>A" "2/844 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:V1956I} USMA-{MSV3dQ13402:p.Val1956Ile}" "+BsmI" "" "Heterozygous; UV1" "Germline" "" "rs142293185" "0" "" "" "g.77208439G>A" "" "benign" "" "0000379050" "0" "35" "11" "76869447" "76869447" "subst" "0" "02419" "MYO7A_000374" "g.76869447T>G" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:I325S} USMA-{MSV3dQ13402:p.Ile325Ser}" "+CviKI_1;+Cac8I;-BtsCI;-BccI;-FokI;" "" "Heterozygous; UV1" "Germline" "" "" "0" "" "" "g.77158401T>G" "" "likely benign" "ACMG" "0000379051" "0" "11" "11" "76926245" "76926245" "subst" "0" "02419" "MYO7A_000372" "g.76926245C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188I" "" "Heterozygous" "Germline" "" "rs34765389" "0" "" "" "g.77215200C>T" "" "benign" "" "0000379052" "0" "35" "11" "76869446" "76869446" "subst" "0" "02419" "MYO7A_000373" "g.76869446A>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAMYO7A:I325F} USMA-{MSV3dQ13402:p.Ile325Phe}" "+HpyAV;-BtsCI;-BccI;-XcmI;-FokI;" "" "Heterozygous; UV1" "Germline" "" "" "0" "" "" "g.77158400A>T" "" "likely benign" "ACMG" "0000379053" "21" "99" "11" "76890090" "76890090" "subst" "0" "02416" "MYO7A_000086" "g.76890090G>T" "" "{PMID:Bonnet 2011:21569298}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179044G>T" "" "pathogenic" "" "0000379054" "11" "99" "11" "76890090" "76890090" "subst" "0" "02416" "MYO7A_000086" "g.76890090G>T" "" "{PMID:Bonnet 2011:21569298}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179044G>T" "" "pathogenic" "" "0000379055" "21" "99" "11" "76901895" "76901895" "del" "0" "02416" "MYO7A_000365" "g.76901895del" "" "{PMID:Bonnet 2011:21569298}" "none" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77190850del" "" "pathogenic" "" "0000379056" "11" "99" "11" "76901895" "76901895" "del" "0" "02416" "MYO7A_000365" "g.76901895del" "" "{PMID:Bonnet 2011:21569298}" "none" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77190850del" "" "pathogenic" "" "0000379057" "11" "99" "11" "76922215" "76922215" "subst" "0" "02416" "MYO7A_000218" "g.76922215C>T" "" "{PMID:Bonnet 2011:21569298}" "+DdeI;+BspCNI;-BsaJI;" "" "Heterozygous" "Germline" "" "rs111033198" "0" "" "" "g.77211170C>T" "" "pathogenic" "" "0000379058" "21" "75" "11" "76873900" "76873900" "subst" "0.0000121999" "02416" "MYO7A_000017" "g.76873900G>A" "0/306 controls" "{PMID:Bonnet 2011:21569298}; USMA-{USMAMYO7A:G519D} USMA-{MSV3dQ13402:p.Gly519Asp}" "-BaeGI;-Bsp1286I;" "" "Heterozygous" "Germline" "" "rs111033206" "0" "" "" "g.77162854G>A" "" "VUS" "ACMG" "0000379059" "0" "15" "11" "76859053" "76859053" "subst" "0" "02419" "MYO7A_000451" "g.76859053C>T" "0/96 controls" "{PMID:Saihan 2011:21487335}" "+BccI;-MnlI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77148007C>T" "" "likely benign" "ACMG" "0000379060" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02417" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379061" "0" "11" "11" "76912636" "76912636" "subst" "0.550278" "02417" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Heterozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379062" "0" "11" "11" "76919480" "76919480" "subst" "0" "02417" "MYO7A_000294" "g.76919480C>A" "" "{PMID:Jaijo 2007:17361009}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77208435C>A" "" "benign" "" "0000379063" "0" "11" "11" "76922946" "76922946" "subst" "0.17794" "02417" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Heterozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000379064" "0" "11" "11" "76870634" "76870634" "subst" "0" "02417" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+TspRI;+BmrI;" "" "Heterozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000379065" "0" "11" "11" "76890242" "76890242" "subst" "0" "02417" "MYO7A_000059" "g.76890242T>C" "" "{PMID:Jaijo 2007:17361009}" "+MspA1I;+MwoI;+BbvI;-BtsI;-BstXI;-MslI;" "" "Heterozygous" "Germline" "" "rs10793239" "0" "" "" "g.77179196T>C" "" "benign" "" "0000379066" "0" "11" "11" "76894235" "76894235" "subst" "0.544568" "02417" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Jaijo 2007:17361009}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Heterozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000379067" "0" "11" "11" "76895772" "76895793" "del" "0" "02417" "MYO7A_000289" "g.76895772_76895793del" "" "{PMID:Jaijo 2007:17361009}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000379068" "0" "11" "11" "76919865" "76919865" "subst" "0.566049" "02417" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Jaijo 2007:17361009}" "+SpeI" "" "Heterozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379069" "0" "11" "11" "76923017" "76923017" "subst" "0.180455" "02417" "MYO7A_000034" "g.76923017G>A" "" "{PMID:Jaijo 2007:17361009}" "+BseRI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77211972G>A" "" "benign" "" "0000379070" "0" "11" "11" "76925040" "76925040" "subst" "0.201995" "02417" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Heterozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379071" "1" "75" "11" "76925703" "76925703" "subst" "0" "02417" "MYO7A_000177" "g.76925703G>C" "0/100 controls" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:A2204P} USMA-{MSV3dQ13402:p.Ala2204Pro}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77214658G>C" "" "VUS" "ACMG" "0000379128" "0" "99" "11" "76858934" "76858934" "del" "0" "02418" "MYO7A_000001" "g.76858934del" "" "{PMID:Weston 1996:8900236}" "" "223delG" "Heterozygous" "Germline" "" "" "0" "" "" "g.77147888del" "" "pathogenic" "" "0000379129" "0" "99" "11" "76867949" "76867949" "subst" "0" "02418" "MYO7A_000002" "g.76867949C>T" "0/192 controls" "{PMID:Weston 1996:8900236}; USMA-{USMAMYO7A:R212C} USMA-{MSV3dQ13402:p.Arg212Cys}" "" "" "Heterozygous" "Germline" "" "rs121965080" "0" "" "" "g.77156903C>T" "" "pathogenic" "" "0000379130" "10" "99" "11" "76867950" "76867950" "subst" "0.0000121841" "02418" "MYO7A_000004" "g.76867950G>A" "0/192 controls" "{PMID:Weston 1996:8900236}; USMA-{USMAMYO7A:R212H} USMA-{MSV3dQ13402:p.Arg212His}" "-BceAI" "" "Homozygous" "Germline" "" "rs28934610" "0" "" "" "g.77156904G>A" "" "pathogenic" "" "0000379131" "10" "35" "11" "76869378" "76869378" "subst" "0.00261705" "02418" "MYO7A_000003" "g.76869378G>A" "0/192 controls" "{PMID:Weston 1996:8900236}; USMA-{USMAMYO7A:R302H} USMA-{MSV3dQ13402:p.Arg302His}" "-BsrBI;-AciI;" "" "Homozygous" "Germline" "" "rs41298135" "0" "" "" "g.77158332G>A" "" "likely benign" "ACMG" "0000379132" "20" "99" "11" "76869378" "76869378" "subst" "0.00261705" "02418" "MYO7A_000003" "g.76869378G>A" "0/192 controls" "{PMID:Weston 1996:8900236}; USMA-{USMAMYO7A:R302H} USMA-{MSV3dQ13402:p.Arg302His}" "-BsrBI;-AciI;" "" "Homozygous" "Germline" "" "rs41298135" "0" "" "" "g.77158332G>A" "" "likely benign" "ACMG" "0000379133" "20" "99" "11" "76867950" "76867950" "subst" "0.0000121841" "02418" "MYO7A_000004" "g.76867950G>A" "0/192 controls" "{PMID:Weston 1996:8900236}; USMA-{USMAMYO7A:R212H} USMA-{MSV3dQ13402:p.Arg212His}" "-BceAI" "" "Homozygous" "Germline" "" "rs28934610" "0" "" "" "g.77156904G>A" "" "pathogenic" "" "0000379134" "0" "75" "11" "76871318" "76871318" "subst" "0" "02416" "MYO7A_000005" "g.76871318C>A" "1/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A397D} USMA-{MSV3dQ13402:p.Ala397Asp}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77160272C>A" "" "VUS" "ACMG" "0000379135" "0" "75" "11" "76871318" "76871318" "subst" "0" "02416" "MYO7A_000005" "g.76871318C>A" "1/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A397D} USMA-{MSV3dQ13402:p.Ala397Asp}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77160272C>A" "" "VUS" "ACMG" "0000379136" "0" "75" "11" "76867931" "76867931" "subst" "0.0000243688" "02416" "MYO7A_000006" "g.76867931C>T" "0/200 controls" "{PMID:Mao-Chang Su 2009:19299023}; USMA-{USMAMYO7A:R206C} USMA-{MSV3dQ13402:p.Arg206Cys}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156885C>T" "" "VUS" "ACMG" "0000379137" "0" "75" "11" "76867931" "76867931" "subst" "0.0000243688" "02416" "MYO7A_000006" "g.76867931C>T" "0/200 controls" "{PMID:Mao-Chang Su 2009:19299023}; USMA-{USMAMYO7A:R206C} USMA-{MSV3dQ13402:p.Arg206Cys}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156885C>T" "" "VUS" "ACMG" "0000379138" "0" "75" "11" "76867932" "76867932" "subst" "0.000142159" "02416" "MYO7A_000007" "g.76867932G>A" "0/200 controls" "{PMID:Mao-Chang Su 2009:19299023}; USMA-{USMAMYO7A:R206H} USMA-{MSV3dQ13402:p.Arg206His}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156886G>A" "" "VUS" "ACMG" "0000379139" "0" "75" "11" "76871270" "76871270" "subst" "0" "02416" "MYO7A_000008" "g.76871270C>T" "0/200 controls" "{PMID:Mao-Chang Su 2009:19299023}; USMA-{USMAMYO7A:T381M} USMA-{MSV3dQ13402:p.Thr381Met}" "" "" "Heterozygous" "De novo" "" "" "0" "" "" "g.77160224C>T" "" "VUS" "ACMG" "0000379140" "0" "75" "11" "76871270" "76871270" "subst" "0" "02416" "MYO7A_000008" "g.76871270C>T" "0/200 controls" "{PMID:Mao-Chang Su 2009:19299023}; USMA-{USMAMYO7A:T381M} USMA-{MSV3dQ13402:p.Thr381Met}" "" "" "Heterozygous" "De novo" "" "" "0" "" "" "g.77160224C>T" "" "VUS" "ACMG" "0000379141" "0" "71" "11" "76871270" "76871270" "subst" "0" "02416" "MYO7A_000008" "g.76871270C>T" "0/200 controls" "{PMID:Mao-Chang Su 2009:19299023}; USMA-{USMAMYO7A:T381M} USMA-{MSV3dQ13402:p.Thr381Met}" "" "" "Heterozygous" "De novo" "" "" "0" "" "" "g.77160224C>T" "" "VUS" "ACMG" "0000379142" "0" "99" "11" "76890970" "76890970" "subst" "0" "02416" "MYO7A_000009" "g.76890970C>T" "0/200 controls" "{PMID:Bolz 2004:15300860}; USMA-{USMAMYO7A:R853C} USMA-{MSV3dQ13402:p.Arg853Cys}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77179924C>T" "" "pathogenic" "" "0000379143" "2" "99" "11" "76890970" "76890970" "subst" "0" "02416" "MYO7A_000009" "g.76890970C>T" "0/200 controls" "{PMID:Bolz 2004:15300860}; USMA-{USMAMYO7A:R853C} USMA-{MSV3dQ13402:p.Arg853Cys}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77179924C>T" "" "pathogenic" "" "0000379144" "2" "99" "11" "76890970" "76890970" "subst" "0" "02416" "MYO7A_000009" "g.76890970C>T" "0/200 controls" "{PMID:Bolz 2004:15300860}; USMA-{USMAMYO7A:R853C} USMA-{MSV3dQ13402:p.Arg853Cys}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77179924C>T" "" "pathogenic" "" "0000379145" "2" "99" "11" "76890970" "76890970" "subst" "0" "02416" "MYO7A_000009" "g.76890970C>T" "0/200 controls" "{PMID:Bolz 2004:15300860}; USMA-{USMAMYO7A:R853C} USMA-{MSV3dQ13402:p.Arg853Cys}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77179924C>T" "" "pathogenic" "" "0000379146" "2" "99" "11" "76890970" "76890970" "subst" "0" "02416" "MYO7A_000009" "g.76890970C>T" "0/200 controls" "{PMID:Bolz 2004:15300860}; USMA-{USMAMYO7A:R853C} USMA-{MSV3dQ13402:p.Arg853Cys}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77179924C>T" "" "pathogenic" "" "0000379147" "1" "75" "11" "76873192" "76873192" "subst" "0" "02416" "MYO7A_000011" "g.76873192C>T" "" "{PMID:Ebermann 2007:17407589}; USMA-{USMAMYO7A:A457V} USMA-{MSV3dQ13402:p.Ala457Val}" "none" "" "Heterozygous" "Germline" "" "rs111033286" "0" "" "" "g.77162146C>T" "" "VUS" "ACMG" "0000379148" "2" "99" "11" "76890856" "76890856" "subst" "0" "02416" "MYO7A_000010" "g.76890856C>T" "" "{PMID:Ebermann 2007:17407589}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77179810C>T" "" "pathogenic" "" "0000379149" "10" "99" "11" "76853829" "76853829" "subst" "0.0000375447" "02416" "MYO7A_000012" "g.76853829C>A" "" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503}" "+Hpy188I;+BsmAI;+DdeI;+BspCNI;" "" "Homozygous" "Germline" "" "rs35689081" "0" "" "" "g.77142783C>A" "" "pathogenic" "" "0000379150" "20" "99" "11" "76853829" "76853829" "subst" "0.0000375447" "02416" "MYO7A_000012" "g.76853829C>A" "" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503}" "+Hpy188I;+BsmAI;+DdeI;+BspCNI;" "" "Homozygous" "Germline" "" "rs35689081" "0" "" "" "g.77142783C>A" "" "pathogenic" "" "0000379151" "10" "99" "11" "76853829" "76853829" "subst" "0.0000375447" "02416" "MYO7A_000012" "g.76853829C>A" "" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503}" "+Hpy188I;+BsmAI;+DdeI;+BspCNI;" "" "Homozygous" "Germline" "" "rs35689081" "0" "" "" "g.77142783C>A" "" "pathogenic" "" "0000379152" "20" "99" "11" "76853829" "76853829" "subst" "0.0000375447" "02416" "MYO7A_000012" "g.76853829C>A" "" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503}" "+Hpy188I;+BsmAI;+DdeI;+BspCNI;" "" "Homozygous" "Germline" "" "rs35689081" "0" "" "" "g.77142783C>A" "" "pathogenic" "" "0000379153" "10" "99" "11" "76853829" "76853829" "subst" "0.0000375447" "02416" "MYO7A_000012" "g.76853829C>A" "" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503}" "+Hpy188I;+BsmAI;+DdeI;+BspCNI;" "" "Homozygous" "Germline" "" "rs35689081" "0" "" "" "g.77142783C>A" "" "pathogenic" "" "0000379154" "20" "99" "11" "76853829" "76853829" "subst" "0.0000375447" "02416" "MYO7A_000012" "g.76853829C>A" "" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503}" "+Hpy188I;+BsmAI;+DdeI;+BspCNI;" "" "Homozygous" "Germline" "" "rs35689081" "0" "" "" "g.77142783C>A" "" "pathogenic" "" "0000379155" "0" "99" "11" "76853829" "76853829" "subst" "0.0000375447" "02416" "MYO7A_000012" "g.76853829C>A" "" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503}" "+Hpy188I;+BsmAI;+DdeI;+BspCNI;" "" "Heterozygous" "Germline" "" "rs35689081" "0" "" "" "g.77142783C>A" "" "pathogenic" "" "0000379156" "0" "99" "11" "76853829" "76853829" "subst" "0.0000375447" "02416" "MYO7A_000012" "g.76853829C>A" "" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503}" "+Hpy188I;+BsmAI;+DdeI;+BspCNI;" "" "Heterozygous" "Germline" "" "rs35689081" "0" "" "" "g.77142783C>A" "" "pathogenic" "" "0000379157" "1" "99" "11" "76853829" "76853829" "subst" "0.0000375447" "02416" "MYO7A_000012" "g.76853829C>A" "" "{PMID:Janecke 1999:10094549}, {PMID:Dad 2016:27957503}, {PMID:Dad 2016:27957503}" "+Hpy188I;+BsmAI;+DdeI;+BspCNI;" "" "" "Germline" "" "rs35689081" "0" "" "" "g.77142783C>A" "" "pathogenic" "" "0000379158" "10" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000379159" "20" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000379160" "0" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000379161" "2" "99" "11" "76892497" "76892510" "del" "0.000122835" "02416" "MYO7A_000015" "g.76892497_76892510del" "1/200 controls" "{PMID:Vastinsalo 2006:17093394}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77181451_77181464del" "" "pathogenic" "" "0000379162" "1" "99" "11" "76917191" "76917191" "subst" "0" "02416" "MYO7A_000014" "g.76917191C>T" "0/200 controls" "{PMID:Vastinsalo 2006:17093394}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77206146C>T" "" "pathogenic" "" "0000379163" "1" "99" "11" "76903216" "76903216" "subst" "0" "02416" "MYO7A_000016" "g.76903216G>A" "0/200 controls" "{PMID:Vastinsalo 2006:17093394}; USMA-{USMAMYO7A:E1349K} USMA-{MSV3dQ13402:p.Glu1349Lys}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77192171G>A" "" "pathogenic" "" "0000379164" "2" "99" "11" "76892497" "76892510" "del" "0.000122835" "02416" "MYO7A_000015" "g.76892497_76892510del" "1/200 controls" "{PMID:Vastinsalo 2006:17093394}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77181451_77181464del" "" "pathogenic" "" "0000379165" "1" "75" "11" "76873900" "76873900" "subst" "0.0000121999" "02416" "MYO7A_000017" "g.76873900G>A" "0/352 controls" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:G519D} USMA-{MSV3dQ13402:p.Gly519Asp}" "-BaeGI;-Bsp1286I;" "" "Heterozygous" "Germline" "" "rs111033206" "0" "" "" "g.77162854G>A" "" "VUS" "ACMG" "0000379166" "2" "75" "11" "76867064" "76867064" "subst" "0" "02416" "MYO7A_000018" "g.76867064C>G" "0/352 controls" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:H133D} USMA-{MSV3dQ13402:p.His133Asp}" "+BcgI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156018C>G" "" "VUS" "ACMG" "0000379167" "0" "11" "11" "76924884" "76924884" "subst" "0.00000406355" "02416" "MYO7A_000019" "g.76924884A>C" "" "{PMID:Roux 2006:16679490}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77213839A>C" "" "benign" "" "0000379168" "0" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2006:16679490}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Heterozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379169" "0" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Roux 2006:16679490}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Heterozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379170" "2" "99" "11" "76900393" "76900393" "subst" "0.0000162752" "02416" "MYO7A_000023" "g.76900393G>A" "0/352 controls" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:E1170K} USMA-{MSV3dQ13402:p.Glu1170Lys}" "none" "" "Heterozygous" "Germline" "" "rs111033214" "0" "" "" "g.77189348G>A" "" "pathogenic" "" "0000379171" "1" "75" "11" "76919504" "76919506" "del" "0" "02416" "MYO7A_000022" "g.76919504_76919506del" "" "{PMID:Roux 2006:16679490}" "-MboII" "5886_5888delCTT" "Heterozygous" "Germline" "" "rs111033232" "0" "" "" "g.77208459_77208461del" "" "VUS" "ACMG" "0000379172" "10" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2006:16679490}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379173" "20" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2006:16679490}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379174" "10" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Roux 2006:16679490}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Homozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379175" "20" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Roux 2006:16679490}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Homozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379176" "10" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2006:16679490}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379177" "20" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2006:16679490}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379178" "2" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2006:16679490}" "+SpeI" "" "Heterozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379179" "0" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Heterozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379180" "0" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2006:16679490}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Heterozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379181" "10" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379182" "2" "99" "11" "76915186" "76915186" "subst" "0.0000318599" "02416" "MYO7A_000028" "g.76915186C>T" "" "{PMID:Roux 2006:16679490}" "+BfaI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77204141C>T" "" "pathogenic" "" "0000379183" "1" "99" "11" "76905543" "76905543" "del" "0" "02416" "MYO7A_000029" "g.76905543del" "" "{PMID:Roux 2006:16679490}" "" "4297delC" "Heterozygous" "Germline" "" "" "0" "" "" "g.77194498del" "" "pathogenic" "" "0000379184" "0" "11" "11" "76883922" "76883922" "subst" "0" "02416" "MYO7A_000030" "g.76883922G>A" "" "{PMID:Roux 2006:16679490}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77172876G>A" "" "benign" "" "0000379185" "20" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379186" "0" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Heterozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379187" "1" "75" "11" "76916643" "76916643" "subst" "0.0000122487" "02416" "MYO7A_000032" "g.76916643C>T" "0/1176 controls" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:R1873W} USMA-{MSV3dQ13402:p.Arg1873Trp}" "+BsrDI;-BceAI;" "" "Heterozygous" "Germline" "" "rs397516321" "0" "" "" "g.77205598C>T" "" "VUS" "ACMG" "0000379188" "2" "99" "11" "76901153" "76901153" "subst" "0.0000764877" "02416" "MYO7A_000033" "g.76901153G>A" "0/1414 controls" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:R1240Q} USMA-{MSV3dQ13402:p.Arg1240Gln}" "none" "" "Heterozygous" "Germline" "" "rs111033178" "0" "" "" "g.77190108G>A" "" "pathogenic" "" "0000379189" "0" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Roux 2006:16679490}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Heterozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379190" "0" "11" "11" "76923017" "76923017" "subst" "0.180455" "02416" "MYO7A_000034" "g.76923017G>A" "" "{PMID:Roux 2006:16679490}" "+BseRI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77211972G>A" "" "benign" "" "0000379191" "0" "11" "11" "76922946" "76922946" "subst" "0.17794" "02416" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Heterozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000379192" "0" "11" "11" "76922868" "76922868" "subst" "0.0258668" "02416" "MYO7A_000036" "g.76922868C>T" "" "{PMID:Roux 2006:16679490}" "-BccI" "" "Heterozygous" "Germline" "" "rs41298757" "0" "" "" "g.77211823C>T" "" "benign" "" "0000379193" "0" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2006:16679490}" "+SpeI" "" "Heterozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379194" "0" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Heterozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379195" "0" "11" "11" "76918327" "76918327" "subst" "0" "02416" "MYO7A_000037" "g.76918327T>C" "" "{PMID:Roux 2006:16679490}" "" "" "Heterozygous\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000379196" "0" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2006:16679490}" "none" "" "Heterozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379197" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Roux 2006:16679490}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379198" "0" "11" "11" "76908732" "76908732" "subst" "0" "02416" "MYO7A_000040" "g.76908732T>C" "" "{PMID:Roux 2006:16679490}" "-BsrDI" "" "Heterozygous" "Germline" "" "rs11237115" "0" "" "" "g.77197687T>C" "" "benign" "" "0000379199" "0" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2006:16679490}" "-BtsCI;-Hpy166II;-FokI;" "" "Heterozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379200" "0" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2006:16679490}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Heterozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379201" "0" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "{PMID:Roux 2006:16679490}" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Heterozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000379202" "0" "11" "11" "76894238" "76894238" "subst" "0" "02416" "MYO7A_000044" "g.76894238G>C" "" "{PMID:Roux 2006:16679490}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77183193G>C" "" "benign" "" "0000379203" "0" "11" "11" "76892943" "76892943" "subst" "0" "02416" "MYO7A_000045" "g.76892943A>G" "" "{PMID:Roux 2006:16679490}" "+FauI;+AciI;" "" "Heterozygous" "Germline" "" "rs7117606" "0" "" "" "g.77181897A>G" "" "benign" "" "0000379204" "0" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "Heterozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379205" "0" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Roux 2006:16679490}" "+FatI;+NlaIII;+CviAII;" "" "Heterozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000379206" "0" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2006:16679490}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Heterozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379207" "2" "75" "11" "76903150" "76903150" "subst" "0.0000122224" "02416" "MYO7A_000057" "g.76903150G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:E1327K} USMA-{MSV3dQ13402:p.Glu1327Lys}" "+HpyCH4V" "" "Heterozygous; No effect on splicing" "Germline" "" "" "0" "" "" "g.77192105G>A" "" "VUS" "ACMG" "0000379208" "10" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Roux 2011:21436283}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Homozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379209" "20" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Roux 2011:21436283}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Homozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379210" "10" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379211" "20" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379212" "10" "11" "11" "76923017" "76923017" "subst" "0.180455" "02416" "MYO7A_000034" "g.76923017G>A" "" "{PMID:Roux 2011:21436283}" "+BseRI" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77211972G>A" "" "benign" "" "0000379213" "20" "11" "11" "76923017" "76923017" "subst" "0.180455" "02416" "MYO7A_000034" "g.76923017G>A" "" "{PMID:Roux 2011:21436283}" "+BseRI" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77211972G>A" "" "benign" "" "0000379214" "10" "11" "11" "76922946" "76922946" "subst" "0.17794" "02416" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "Homozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000379215" "20" "11" "11" "76922946" "76922946" "subst" "0.17794" "02416" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "Homozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000379216" "10" "11" "11" "76922868" "76922868" "subst" "0.0258668" "02416" "MYO7A_000036" "g.76922868C>T" "" "{PMID:Roux 2011:21436283}" "-BccI" "" "Homozygous" "Germline" "" "rs41298757" "0" "" "" "g.77211823C>T" "" "benign" "" "0000379217" "20" "11" "11" "76922868" "76922868" "subst" "0.0258668" "02416" "MYO7A_000036" "g.76922868C>T" "" "{PMID:Roux 2011:21436283}" "-BccI" "" "Homozygous" "Germline" "" "rs41298757" "0" "" "" "g.77211823C>T" "" "benign" "" "0000379218" "10" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2011:21436283}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379219" "20" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2011:21436283}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379220" "10" "11" "11" "76920003" "76920003" "subst" "0" "02416" "MYO7A_000049" "g.76920003T>C" "" "{PMID:Roux 2011:21436283}" "+BsmFI;+BceAI;-BccI;-FokI;-PflMI;-BtsCI;" "" "Homozygous" "Germline" "" "rs11237122" "0" "" "" "g.77208958T>C" "" "benign" "" "0000379221" "20" "11" "11" "76920003" "76920003" "subst" "0" "02416" "MYO7A_000049" "g.76920003T>C" "" "{PMID:Roux 2011:21436283}" "+BsmFI;+BceAI;-BccI;-FokI;-PflMI;-BtsCI;" "" "Homozygous" "Germline" "" "rs11237122" "0" "" "" "g.77208958T>C" "" "benign" "" "0000379222" "10" "11" "11" "76919629" "76919629" "subst" "0" "02416" "MYO7A_000050" "g.76919629C>T" "" "{PMID:Roux 2011:21436283}" "-BceAI" "" "Homozygous" "Germline" "" "rs948960" "0" "" "" "g.77208584C>T" "" "benign" "" "0000379223" "20" "11" "11" "76919629" "76919629" "subst" "0" "02416" "MYO7A_000050" "g.76919629C>T" "" "{PMID:Roux 2011:21436283}" "-BceAI" "" "Homozygous" "Germline" "" "rs948960" "0" "" "" "g.77208584C>T" "" "benign" "" "0000379224" "10" "11" "11" "76919619" "76919619" "subst" "0" "02416" "MYO7A_000051" "g.76919619G>A" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI;" "" "Homozygous" "Germline" "" "rs948961" "0" "" "" "g.77208574G>A" "" "benign" "" "0000379225" "20" "11" "11" "76919619" "76919619" "subst" "0" "02416" "MYO7A_000051" "g.76919619G>A" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI;" "" "Homozygous" "Germline" "" "rs948961" "0" "" "" "g.77208574G>A" "" "benign" "" "0000379226" "10" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Roux 2011:21436283}" "+BsmFI;-AhdI;" "" "Homozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000379227" "20" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Roux 2011:21436283}" "+BsmFI;-AhdI;" "" "Homozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000379228" "10" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379229" "20" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379230" "10" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379231" "20" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379232" "10" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379233" "20" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379234" "10" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379235" "20" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379236" "10" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379237" "20" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379238" "10" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Roux 2011:21436283}" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379239" "20" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Roux 2011:21436283}" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379240" "10" "11" "11" "76908802" "76908802" "subst" "0" "02416" "MYO7A_000055" "g.76908802T>C" "" "{PMID:Roux 2011:21436283}" "-BsrDI" "" "Homozygous" "Germline" "" "rs11237116" "0" "" "" "g.77197757T>C" "" "benign" "" "0000379241" "20" "11" "11" "76908802" "76908802" "subst" "0" "02416" "MYO7A_000055" "g.76908802T>C" "" "{PMID:Roux 2011:21436283}" "-BsrDI" "" "Homozygous" "Germline" "" "rs11237116" "0" "" "" "g.77197757T>C" "" "benign" "" "0000379242" "10" "11" "11" "76908791" "76908791" "subst" "0" "02416" "MYO7A_000056" "g.76908791A>G" "" "{PMID:Roux 2011:21436283}" "+BbvI;+Fnu4HI;+FauI;+ApeKI;+TseI;+AciI;" "" "Homozygous" "Germline" "" "rs4944149" "0" "" "" "g.77197746A>G" "" "benign" "" "0000379243" "20" "11" "11" "76908791" "76908791" "subst" "0" "02416" "MYO7A_000056" "g.76908791A>G" "" "{PMID:Roux 2011:21436283}" "+BbvI;+Fnu4HI;+FauI;+ApeKI;+TseI;+AciI;" "" "Homozygous" "Germline" "" "rs4944149" "0" "" "" "g.77197746A>G" "" "benign" "" "0000379244" "10" "11" "11" "76908732" "76908732" "subst" "0" "02416" "MYO7A_000040" "g.76908732T>C" "" "{PMID:Roux 2011:21436283}" "-BsrDI" "" "Homozygous" "Germline" "" "rs11237115" "0" "" "" "g.77197687T>C" "" "benign" "" "0000379245" "20" "11" "11" "76908732" "76908732" "subst" "0" "02416" "MYO7A_000040" "g.76908732T>C" "" "{PMID:Roux 2011:21436283}" "-BsrDI" "" "Homozygous" "Germline" "" "rs11237115" "0" "" "" "g.77197687T>C" "" "benign" "" "0000379246" "10" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2011:21436283}" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379247" "20" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2011:21436283}" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379248" "10" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2011:21436283}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379249" "20" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2011:21436283}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379250" "10" "11" "11" "76902024" "76902024" "subst" "0" "02416" "MYO7A_000058" "g.76902024G>A" "" "{PMID:Roux 2011:21436283}" "+BspCNI;+DdeI;+BsaJI;" "" "Homozygous" "Germline" "" "rs4944148" "0" "" "" "g.77190979G>A" "" "benign" "" "0000379251" "20" "11" "11" "76902024" "76902024" "subst" "0" "02416" "MYO7A_000058" "g.76902024G>A" "" "{PMID:Roux 2011:21436283}" "+BspCNI;+DdeI;+BsaJI;" "" "Homozygous" "Germline" "" "rs4944148" "0" "" "" "g.77190979G>A" "" "benign" "" "0000379252" "1" "99" "11" "76901153" "76901153" "subst" "0.0000764877" "02416" "MYO7A_000033" "g.76901153G>A" "0/1414 controls" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:R1240Q} USMA-{MSV3dQ13402:p.Arg1240Gln}" "none" "" "Heterozygous; No effect on splicing" "Germline" "" "rs111033178" "0" "" "" "g.77190108G>A" "" "pathogenic" "" "0000379253" "10" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "{PMID:Roux 2011:21436283}" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Homozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000379254" "20" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "{PMID:Roux 2011:21436283}" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Homozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000379255" "10" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2011:21436283}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Homozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379256" "20" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2011:21436283}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Homozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379257" "10" "11" "11" "76890242" "76890242" "subst" "0" "02416" "MYO7A_000059" "g.76890242T>C" "" "{PMID:Roux 2011:21436283}" "+MspA1I;+MwoI;+BbvI;-BtsI;-BstXI;-MslI;" "" "Homozygous" "Germline" "" "rs10793239" "0" "" "" "g.77179196T>C" "" "benign" "" "0000379258" "20" "11" "11" "76890242" "76890242" "subst" "0" "02416" "MYO7A_000059" "g.76890242T>C" "" "{PMID:Roux 2011:21436283}" "+MspA1I;+MwoI;+BbvI;-BtsI;-BstXI;-MslI;" "" "Homozygous" "Germline" "" "rs10793239" "0" "" "" "g.77179196T>C" "" "benign" "" "0000379259" "10" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2011:21436283}" "-SfaNI" "" "Homozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379260" "20" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2011:21436283}" "-SfaNI" "" "Homozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379261" "10" "11" "11" "76870634" "76870634" "subst" "0" "02416" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Roux 2011:21436283}" "+BsrI;+TspRI;+BmrI;" "" "Homozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000379262" "20" "11" "11" "76870634" "76870634" "subst" "0" "02416" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Roux 2011:21436283}" "+BsrI;+TspRI;+BmrI;" "" "Homozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000379263" "10" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Roux 2011:21436283}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000379264" "20" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Roux 2011:21436283}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000379265" "10" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379266" "0" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Heterozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379267" "0" "11" "11" "76924884" "76924884" "subst" "0.00000406355" "02416" "MYO7A_000019" "g.76924884A>C" "" "{PMID:Roux 2011:21436283}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77213839A>C" "" "benign" "" "0000379268" "0" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2011:21436283}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Heterozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379269" "1" "99" "11" "76916658" "76916658" "del" "0" "02416" "MYO7A_000061" "g.76916658del" "" "{PMID:Roux 2011:21436283}" "" "5632delC" "Heterozygous" "Germline" "" "" "0" "" "" "g.77205613del" "" "pathogenic" "" "0000379270" "2" "99" "11" "76890926" "76890926" "subst" "0.0000150022" "02416" "MYO7A_000062" "g.76890926G>A" "" "{PMID:Roux 2011:21436283}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77179880G>A" "" "pathogenic" "" "0000379271" "20" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379272" "10" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Blanchet 2007:18323324}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379273" "10" "99" "11" "76892605" "76892609" "del" "0" "02416" "MYO7A_000063" "g.76892605_76892609del" "" "{PMID:Blanchet 2007:18323324}" "" "2874_2878delCCAGG" "Homozygous" "Germline" "" "" "0" "" "" "g.77181559_77181563del" "" "pathogenic" "" "0000379274" "20" "99" "11" "76892605" "76892609" "del" "0" "02416" "MYO7A_000063" "g.76892605_76892609del" "" "{PMID:Blanchet 2007:18323324}" "" "2874_2878delCCAGG" "Homozygous" "Germline" "" "" "0" "" "" "g.77181559_77181563del" "" "pathogenic" "" "0000379275" "10" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Blanchet 2007:18323324}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379276" "20" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Blanchet 2007:18323324}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379277" "10" "11" "11" "76923017" "76923017" "subst" "0.180455" "02416" "MYO7A_000034" "g.76923017G>A" "" "{PMID:Blanchet 2007:18323324}" "+BseRI" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77211972G>A" "" "benign" "" "0000379278" "20" "11" "11" "76923017" "76923017" "subst" "0.180455" "02416" "MYO7A_000034" "g.76923017G>A" "" "{PMID:Blanchet 2007:18323324}" "+BseRI" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77211972G>A" "" "benign" "" "0000379279" "10" "11" "11" "76922946" "76922946" "subst" "0.17794" "02416" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Blanchet 2007:18323324}" "none" "" "Homozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000379280" "20" "11" "11" "76922946" "76922946" "subst" "0.17794" "02416" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Blanchet 2007:18323324}" "none" "" "Homozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000379281" "10" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Blanchet 2007:18323324}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379282" "20" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Blanchet 2007:18323324}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379283" "10" "11" "11" "76919619" "76919619" "subst" "0" "02416" "MYO7A_000051" "g.76919619G>A" "" "{PMID:Blanchet 2007:18323324}" "+DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI;" "" "Homozygous" "Germline" "" "rs948961" "0" "" "" "g.77208574G>A" "" "benign" "" "0000379284" "20" "11" "11" "76919619" "76919619" "subst" "0" "02416" "MYO7A_000051" "g.76919619G>A" "" "{PMID:Blanchet 2007:18323324}" "+DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI;" "" "Homozygous" "Germline" "" "rs948961" "0" "" "" "g.77208574G>A" "" "benign" "" "0000379285" "10" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Blanchet 2007:18323324}" "+BsmFI;-AhdI;" "" "Homozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000379286" "20" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Blanchet 2007:18323324}" "+BsmFI;-AhdI;" "" "Homozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000379287" "20" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Blanchet 2007:18323324}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379288" "10" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Blanchet 2007:18323324}" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379289" "20" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Blanchet 2007:18323324}" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379290" "10" "35" "11" "76892600" "76892600" "subst" "0" "02416" "MYO7A_000064" "g.76892600C>G" "" "{PMID:Blanchet 2007:18323324}; USMA-{USMAMYO7A:P957A} USMA-{MSV3dQ13402:p.Pro957Ala}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77181554C>G" "" "likely benign" "ACMG" "0000379291" "20" "35" "11" "76892600" "76892600" "subst" "0" "02416" "MYO7A_000064" "g.76892600C>G" "" "{PMID:Blanchet 2007:18323324}; USMA-{USMAMYO7A:P957A} USMA-{MSV3dQ13402:p.Pro957Ala}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77181554C>G" "" "likely benign" "ACMG" "0000379292" "10" "11" "11" "76859087" "76859087" "subst" "0" "02416" "MYO7A_000065" "g.76859087C>A" "" "{PMID:Blanchet 2007:18323324}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77148041C>A" "" "benign" "" "0000379293" "20" "11" "11" "76859087" "76859087" "subst" "0" "02416" "MYO7A_000065" "g.76859087C>A" "" "{PMID:Blanchet 2007:18323324}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77148041C>A" "" "benign" "" "0000379294" "10" "75" "11" "76867726" "76867726" "subst" "0" "02416" "MYO7A_000067" "g.76867726A>G" "0/664 controls" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:K164R} USMA-{MSV3dQ13402:p.Lys164Arg}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77156680A>G" "" "VUS" "ACMG" "0000379295" "10" "11" "11" "76885901" "76885901" "subst" "0.00419911" "02416" "MYO7A_000066" "g.76885901G>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:V679I} USMA-{MSV3dQ13402:p.Val679Ile}" "" "" "Homozygous" "Germline" "" "rs35641839" "0" "" "" "g.77174855G>A" "" "benign" "" "0000379296" "20" "11" "11" "76885901" "76885901" "subst" "0.00419911" "02416" "MYO7A_000066" "g.76885901G>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:V679I} USMA-{MSV3dQ13402:p.Val679Ile}" "" "" "Homozygous" "Germline" "" "rs35641839" "0" "" "" "g.77174855G>A" "" "benign" "" "0000379297" "20" "75" "11" "76867726" "76867726" "subst" "0" "02416" "MYO7A_000067" "g.76867726A>G" "0/664 controls" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:K164R} USMA-{MSV3dQ13402:p.Lys164Arg}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77156680A>G" "" "VUS" "ACMG" "0000379298" "10" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379299" "20" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379300" "10" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2006:16679490}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379301" "20" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2006:16679490}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379302" "10" "11" "11" "76919619" "76919619" "subst" "0" "02416" "MYO7A_000051" "g.76919619G>A" "" "{PMID:Roux 2006:16679490}" "+DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI;" "" "Homozygous" "Germline" "" "rs948961" "0" "" "" "g.77208574G>A" "" "benign" "" "0000379303" "20" "11" "11" "76919619" "76919619" "subst" "0" "02416" "MYO7A_000051" "g.76919619G>A" "" "{PMID:Roux 2006:16679490}" "+DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI;" "" "Homozygous" "Germline" "" "rs948961" "0" "" "" "g.77208574G>A" "" "benign" "" "0000379304" "10" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Roux 2006:16679490}" "+BsmFI;-AhdI;" "" "Homozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000379305" "20" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Roux 2006:16679490}" "+BsmFI;-AhdI;" "" "Homozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000379306" "10" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379307" "20" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379308" "10" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2006:16679490}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379309" "20" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2006:16679490}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379310" "10" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2006:16679490}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379311" "20" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2006:16679490}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379312" "10" "11" "11" "76914275" "76914275" "subst" "0.00498703" "02416" "MYO7A_000068" "g.76914275C>T" "" "{PMID:Roux 2006:16679490}" "" "" "Homozygous" "Germline" "" "rs114157944" "0" "" "" "g.77203230C>T" "" "benign" "" "0000379313" "20" "11" "11" "76914275" "76914275" "subst" "0.00498703" "02416" "MYO7A_000068" "g.76914275C>T" "" "{PMID:Roux 2006:16679490}" "" "" "Homozygous" "Germline" "" "rs114157944" "0" "" "" "g.77203230C>T" "" "benign" "" "0000379314" "10" "11" "11" "76910600" "76910600" "subst" "0.0056044" "02416" "MYO7A_000069" "g.76910600C>T" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:S1530L} USMA-{MSV3dQ13402:p.Ser1530Leu}" "-TspRI" "" "Homozygous" "Germline" "" "rs111033183" "0" "" "" "g.77199555C>T" "" "benign" "" "0000379315" "20" "11" "11" "76910600" "76910600" "subst" "0.0056044" "02416" "MYO7A_000069" "g.76910600C>T" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:S1530L} USMA-{MSV3dQ13402:p.Ser1530Leu}" "-TspRI" "" "Homozygous" "Germline" "" "rs111033183" "0" "" "" "g.77199555C>T" "" "benign" "" "0000379316" "10" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2006:16679490}" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379317" "20" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2006:16679490}" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379318" "10" "11" "11" "76901819" "76901819" "subst" "0.00498058" "02416" "MYO7A_000070" "g.76901819G>A" "" "{PMID:Roux 2006:16679490}" "" "" "Homozygous" "Germline" "" "rs78871677" "0" "" "" "g.77190774G>A" "" "benign" "" "0000379319" "20" "11" "11" "76901819" "76901819" "subst" "0.00498058" "02416" "MYO7A_000070" "g.76901819G>A" "" "{PMID:Roux 2006:16679490}" "" "" "Homozygous" "Germline" "" "rs78871677" "0" "" "" "g.77190774G>A" "" "benign" "" "0000379320" "10" "11" "11" "76894235" "76894235" "subst" "0.544568" "02416" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Roux 2006:16679490}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Homozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000379321" "20" "11" "11" "76894235" "76894235" "subst" "0.544568" "02416" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Roux 2006:16679490}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Homozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000379322" "10" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2006:16679490}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Homozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379323" "20" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2006:16679490}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Homozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379324" "10" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "Homozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379325" "20" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "Homozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379326" "10" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Roux 2006:16679490}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000379327" "20" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Roux 2006:16679490}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000379328" "10" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379329" "20" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379330" "1" "95" "11" "76867722" "76867722" "subst" "0" "02416" "MYO7A_000073" "g.76867722G>C" "0/664 controls" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:G163R} USMA-{MSV3dQ13402:p.Gly163Arg}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156676G>C" "" "likely pathogenic" "ACMG" "0000379331" "2" "95" "11" "76867827" "76867827" "subst" "0" "02416" "MYO7A_000072" "g.76867827G>A" "0/664 controls" "{PMID:Roux 2006:16679490}" "-HpyAV" "" "Heterozygous; E6 skipping (Le Guédard-Méreuze , 2010)" "Germline" "" "" "0" "" "" "g.77156781G>A" "" "likely pathogenic" "ACMG" "0000379332" "0" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2006:16679490}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Heterozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379333" "0" "11" "11" "76922186" "76922186" "subst" "0.00416584" "02416" "MYO7A_000074" "g.76922186G>C" "" "{PMID:Roux 2006:16679490}" "" "" "Heterozygous" "Germline" "" "rs112564978" "0" "" "" "g.77211141G>C" "" "benign" "" "0000379334" "0" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2006:16679490}" "+SpeI" "" "Heterozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379335" "0" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Heterozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379336" "0" "11" "11" "76918327" "76918327" "subst" "0" "02416" "MYO7A_000037" "g.76918327T>C" "" "{PMID:Roux 2006:16679490}" "" "" "Heterozygous\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000379337" "0" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2006:16679490}" "none" "" "Heterozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379338" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Roux 2006:16679490}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379339" "0" "11" "11" "76908732" "76908732" "subst" "0" "02416" "MYO7A_000040" "g.76908732T>C" "" "{PMID:Roux 2006:16679490}" "-BsrDI" "" "Heterozygous" "Germline" "" "rs11237115" "0" "" "" "g.77197687T>C" "" "benign" "" "0000379340" "0" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2006:16679490}" "-BtsCI;-Hpy166II;-FokI;" "" "Heterozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379341" "0" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2006:16679490}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Heterozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379342" "0" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "{PMID:Roux 2006:16679490}" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Heterozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000379343" "0" "11" "11" "76894235" "76894235" "subst" "0.544568" "02416" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Roux 2006:16679490}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Heterozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000379344" "0" "11" "11" "76892943" "76892943" "subst" "0" "02416" "MYO7A_000045" "g.76892943A>G" "" "{PMID:Roux 2006:16679490}" "+FauI;+AciI;" "" "Heterozygous" "Germline" "" "rs7117606" "0" "" "" "g.77181897A>G" "" "benign" "" "0000379345" "0" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2006:16679490}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Heterozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379346" "0" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "Heterozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379347" "1" "11" "11" "76873138" "76873138" "subst" "0.00482021" "02416" "MYO7A_000075" "g.76873138C>A" "" "{PMID:Roux 2006:16679490}" "" "" "Heterozygous" "Germline" "" "rs112338889" "0" "" "" "g.77162092C>A" "" "benign" "" "0000379348" "1" "11" "11" "0" "0" "" "0" "02416" "MYO7A_000076" "g.?" "" "{PMID:Roux 2006:16679490}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000379349" "1" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Roux 2006:16679490}" "+FatI;+NlaIII;+CviAII;" "" "Heterozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000379350" "2" "11" "11" "76867745" "76867745" "subst" "0.00263566" "02416" "MYO7A_000077" "g.76867745G>A" "" "{PMID:Roux 2006:16679490}" "" "" "Heterozygous" "Germline" "" "rs34477144" "0" "" "" "g.77156699G>A" "" "benign" "" "0000379351" "0" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Heterozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379352" "0" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Heterozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379353" "2" "99" "11" "76867729" "76867729" "subst" "0.0000284289" "02416" "MYO7A_000078" "g.76867729C>T" "0/664 controls" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:T165M} USMA-{MSV3dQ13402:p.Thr165Met}" "" "" "Heterozygous" "Germline" "" "rs111033174" "0" "" "" "g.77156683C>T" "" "pathogenic" "" "0000379354" "1" "99" "11" "76858934" "76858934" "del" "0" "02416" "MYO7A_000001" "g.76858934del" "" "{PMID:Roux 2006:16679490}" "" "223delG" "Heterozygous" "Germline" "" "" "0" "" "" "g.77147888del" "" "pathogenic" "" "0000379355" "0" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2006:16679490}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Heterozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379356" "0" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Roux 2006:16679490}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Heterozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379357" "0" "11" "11" "76923017" "76923017" "subst" "0.180455" "02416" "MYO7A_000034" "g.76923017G>A" "" "{PMID:Roux 2006:16679490}" "+BseRI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77211972G>A" "" "benign" "" "0000379358" "0" "11" "11" "76922946" "76922946" "subst" "0.17794" "02416" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Heterozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000379359" "0" "11" "11" "76922868" "76922868" "subst" "0.0258668" "02416" "MYO7A_000036" "g.76922868C>T" "" "{PMID:Roux 2006:16679490}" "-BccI" "" "Heterozygous" "Germline" "" "rs41298757" "0" "" "" "g.77211823C>T" "" "benign" "" "0000379360" "0" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2006:16679490}" "+SpeI" "" "Heterozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379361" "0" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Heterozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379362" "0" "11" "11" "76918327" "76918327" "subst" "0" "02416" "MYO7A_000037" "g.76918327T>C" "" "{PMID:Roux 2006:16679490}" "" "" "Heterozygous\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000379363" "0" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2006:16679490}" "none" "" "Heterozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379364" "0" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Heterozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379365" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Roux 2006:16679490}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379366" "0" "11" "11" "76908732" "76908732" "subst" "0" "02416" "MYO7A_000040" "g.76908732T>C" "" "{PMID:Roux 2006:16679490}" "-BsrDI" "" "Heterozygous" "Germline" "" "rs11237115" "0" "" "" "g.77197687T>C" "" "benign" "" "0000379367" "0" "11" "11" "76908684" "76908684" "subst" "0" "02416" "MYO7A_000079" "g.76908684G>A" "" "{PMID:Roux 2006:16679490}" "" "" "Heterozygous\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000379368" "0" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2006:16679490}" "-BtsCI;-Hpy166II;-FokI;" "" "Heterozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379369" "10" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2006:16679490}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379370" "20" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2006:16679490}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379371" "0" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "{PMID:Roux 2006:16679490}" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Heterozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000379372" "0" "11" "11" "76894238" "76894238" "subst" "0" "02416" "MYO7A_000044" "g.76894238G>C" "" "{PMID:Roux 2006:16679490}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77183193G>C" "" "benign" "" "0000379373" "0" "11" "11" "76892943" "76892943" "subst" "0" "02416" "MYO7A_000045" "g.76892943A>G" "" "{PMID:Roux 2006:16679490}" "+FauI;+AciI;" "" "Heterozygous" "Germline" "" "rs7117606" "0" "" "" "g.77181897A>G" "" "benign" "" "0000379374" "0" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2006:16679490}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Heterozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379375" "0" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "Heterozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379376" "2" "99" "11" "76901153" "76901153" "subst" "0.0000764877" "02416" "MYO7A_000033" "g.76901153G>A" "0/1414 controls" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:R1240Q} USMA-{MSV3dQ13402:p.Arg1240Gln}" "none" "" "Heterozygous" "Germline" "" "rs111033178" "0" "" "" "g.77190108G>A" "" "pathogenic" "" "0000379377" "1" "99" "11" "76858934" "76858934" "del" "0" "02416" "MYO7A_000001" "g.76858934del" "" "{PMID:Roux 2006:16679490}" "" "223delG" "Heterozygous" "Germline" "" "" "0" "" "" "g.77147888del" "" "pathogenic" "" "0000379378" "0" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Roux 2006:16679490}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Heterozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379379" "0" "11" "11" "76923017" "76923017" "subst" "0.180455" "02416" "MYO7A_000034" "g.76923017G>A" "" "{PMID:Roux 2006:16679490}" "+BseRI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77211972G>A" "" "benign" "" "0000379380" "0" "11" "11" "76922946" "76922946" "subst" "0.17794" "02416" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Heterozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000379381" "0" "11" "11" "76922868" "76922868" "subst" "0.0258668" "02416" "MYO7A_000036" "g.76922868C>T" "" "{PMID:Roux 2006:16679490}" "-BccI" "" "Heterozygous" "Germline" "" "rs41298757" "0" "" "" "g.77211823C>T" "" "benign" "" "0000379382" "0" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Heterozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379383" "0" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2006:16679490}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Heterozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379384" "0" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2006:16679490}" "none" "" "Heterozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379385" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Roux 2006:16679490}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379386" "0" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2006:16679490}" "-BtsCI;-Hpy166II;-FokI;" "" "Heterozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379387" "0" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "{PMID:Roux 2006:16679490}" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Heterozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000379388" "0" "11" "11" "76894235" "76894235" "subst" "0.544568" "02416" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Roux 2006:16679490}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Heterozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000379389" "0" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2006:16679490}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Heterozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379390" "0" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "Heterozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379391" "10" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Roux 2006:16679490}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000379392" "20" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Roux 2006:16679490}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000379393" "1" "99" "11" "76900393" "76900393" "subst" "0.0000162752" "02416" "MYO7A_000023" "g.76900393G>A" "0/352 controls" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:E1170K} USMA-{MSV3dQ13402:p.Glu1170Lys}" "none" "" "Heterozygous" "Germline" "" "rs111033214" "0" "" "" "g.77189348G>A" "" "pathogenic" "" "0000379394" "2" "95" "11" "76916599" "76916599" "subst" "0.0000247349" "02416" "MYO7A_000080" "g.76916599T>C" "0/1176 controls" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L1858P} USMA-{MSV3dQ13402:p.Leu1858Pro}" "+FauI;+AciI;-PstI;-HpyCH4V;-SfcI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77205554T>C" "" "likely pathogenic" "ACMG" "0000379395" "2" "11" "11" "76913457" "76913457" "subst" "0.0161284" "02416" "MYO7A_000081" "g.76913457A>G" "8/1104 controls" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:Y1719C} USMA-{MSV3dQ13402:p.Tyr1719Cys}" "+Tsp45I" "" "Heterozygous" "Germline" "" "rs77625410" "0" "" "" "g.77202412A>G" "" "benign" "" "0000379396" "0" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Roux 2006:16679490}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Heterozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379397" "10" "11" "11" "76923017" "76923017" "subst" "0.180455" "02416" "MYO7A_000034" "g.76923017G>A" "" "{PMID:Roux 2006:16679490}" "+BseRI" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77211972G>A" "" "benign" "" "0000379398" "20" "11" "11" "76923017" "76923017" "subst" "0.180455" "02416" "MYO7A_000034" "g.76923017G>A" "" "{PMID:Roux 2006:16679490}" "+BseRI" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77211972G>A" "" "benign" "" "0000379399" "10" "11" "11" "76922946" "76922946" "subst" "0.17794" "02416" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Homozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000379400" "20" "11" "11" "76922946" "76922946" "subst" "0.17794" "02416" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Homozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000379401" "0" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Heterozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379402" "0" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2006:16679490}" "none" "" "Heterozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379403" "1" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Roux 2006:16679490}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379404" "1" "11" "11" "76910708" "76910708" "subst" "0.00501209" "02416" "MYO7A_000082" "g.76910708C>T" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:T1566M} USMA-{MSV3dQ13402:p.Thr1566Met}" "" "" "Heterozygous" "Germline" "" "rs41298747" "0" "" "" "g.77199663C>T" "" "benign" "" "0000379405" "10" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2006:16679490}" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379406" "20" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2006:16679490}" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379407" "0" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "{PMID:Roux 2006:16679490}" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Heterozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000379408" "10" "11" "11" "76894235" "76894235" "subst" "0.544568" "02416" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Roux 2006:16679490}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Homozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000379409" "20" "11" "11" "76894235" "76894235" "subst" "0.544568" "02416" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Roux 2006:16679490}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Homozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000379410" "10" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2006:16679490}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Homozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379411" "20" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2006:16679490}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Homozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379412" "10" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "Homozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379413" "20" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "Homozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379414" "0" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Roux 2006:16679490}" "+FatI;+NlaIII;+CviAII;" "" "Heterozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000379415" "0" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Heterozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379416" "0" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Blanchet 2007:18323324}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Heterozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379417" "1" "95" "11" "76916599" "76916599" "subst" "0.0000247349" "02416" "MYO7A_000080" "g.76916599T>C" "" "{PMID:Blanchet 2007:18323324}; USMA-{USMAMYO7A:L1858P} USMA-{MSV3dQ13402:p.Leu1858Pro}" "+FauI;+AciI;-PstI;-HpyCH4V;-SfcI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77205554T>C" "" "likely pathogenic" "ACMG" "0000379418" "2" "99" "11" "76871285" "76871286" "del" "0" "02416" "MYO7A_000083" "g.76871285_76871286del" "" "{PMID:Blanchet 2007:18323324}" "" "1157_1158delTG" "Heterozygous" "Germline" "" "" "0" "" "" "g.77160239_77160240del" "" "pathogenic" "" "0000379419" "10" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Blanchet 2007:18323324}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379420" "20" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Blanchet 2007:18323324}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379421" "0" "11" "11" "76923017" "76923017" "subst" "0.180455" "02416" "MYO7A_000034" "g.76923017G>A" "" "{PMID:Blanchet 2007:18323324}" "+BseRI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77211972G>A" "" "benign" "" "0000379422" "0" "11" "11" "76922946" "76922946" "subst" "0.17794" "02416" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Blanchet 2007:18323324}" "none" "" "Heterozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000379423" "0" "11" "11" "76919619" "76919619" "subst" "0" "02416" "MYO7A_000051" "g.76919619G>A" "" "{PMID:Blanchet 2007:18323324}" "+DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI;" "" "Heterozygous" "Germline" "" "rs948961" "0" "" "" "g.77208574G>A" "" "benign" "" "0000379424" "0" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Blanchet 2007:18323324}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Heterozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379425" "0" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Blanchet 2007:18323324}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Heterozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379426" "10" "11" "11" "76916424" "76916424" "subst" "0" "02416" "MYO7A_000084" "g.76916424A>G" "" "{PMID:Blanchet 2007:18323324}" "+HpyCH4IV;+BsaAI;-FatI;-NlaIII;-CviAII;" "" "Homozygous" "Germline" "" "rs11237121" "0" "" "" "g.77205379A>G" "" "benign" "" "0000379427" "20" "11" "11" "76916424" "76916424" "subst" "0" "02416" "MYO7A_000084" "g.76916424A>G" "" "{PMID:Blanchet 2007:18323324}" "+HpyCH4IV;+BsaAI;-FatI;-NlaIII;-CviAII;" "" "Homozygous" "Germline" "" "rs11237121" "0" "" "" "g.77205379A>G" "" "benign" "" "0000379428" "0" "11" "11" "76913457" "76913457" "subst" "0.0161284" "02416" "MYO7A_000081" "g.76913457A>G" "" "{PMID:Blanchet 2007:18323324}; USMA-{USMAMYO7A:Y1719C} USMA-{MSV3dQ13402:p.Tyr1719Cys}" "+Tsp45I" "" "Heterozygous" "Germline" "" "rs77625410" "0" "" "" "g.77202412A>G" "" "benign" "" "0000379429" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Blanchet 2007:18323324}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379430" "10" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Blanchet 2007:18323324}" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379431" "20" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Blanchet 2007:18323324}" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379432" "10" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Blanchet 2007:18323324}" "-SfaNI" "" "Homozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379433" "20" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Blanchet 2007:18323324}" "-SfaNI" "" "Homozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379434" "0" "11" "11" "76868096" "76868096" "subst" "0.00198103" "02416" "MYO7A_000085" "g.76868096C>T" "" "{PMID:Blanchet 2007:18323324}" "+BsmAI;+BsaI;-MnlI;-PhoI;-HaeIII;-Bsu36I;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77157050C>T" "" "benign" "" "0000379435" "10" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379436" "10" "99" "11" "76901153" "76901153" "subst" "0.0000764877" "02416" "MYO7A_000033" "g.76901153G>A" "0/1414 controls" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:R1240Q} USMA-{MSV3dQ13402:p.Arg1240Gln}" "none" "" "Homozygous" "Germline" "" "rs111033178" "0" "" "" "g.77190108G>A" "" "pathogenic" "" "0000379437" "20" "99" "11" "76901153" "76901153" "subst" "0.0000764877" "02416" "MYO7A_000033" "g.76901153G>A" "0/1414 controls" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:R1240Q} USMA-{MSV3dQ13402:p.Arg1240Gln}" "none" "" "Homozygous" "Germline" "" "rs111033178" "0" "" "" "g.77190108G>A" "" "pathogenic" "" "0000379438" "10" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2006:16679490}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379439" "20" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2006:16679490}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379440" "10" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Roux 2006:16679490}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Homozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379441" "20" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Roux 2006:16679490}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Homozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379442" "10" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2006:16679490}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379443" "20" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2006:16679490}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379444" "10" "11" "11" "76922946" "76922946" "subst" "0.17794" "02416" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Homozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000379445" "20" "11" "11" "76922946" "76922946" "subst" "0.17794" "02416" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Homozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000379446" "10" "11" "11" "76922868" "76922868" "subst" "0.0258668" "02416" "MYO7A_000036" "g.76922868C>T" "" "{PMID:Roux 2006:16679490}" "-BccI" "" "Homozygous" "Germline" "" "rs41298757" "0" "" "" "g.77211823C>T" "" "benign" "" "0000379447" "20" "11" "11" "76922868" "76922868" "subst" "0.0258668" "02416" "MYO7A_000036" "g.76922868C>T" "" "{PMID:Roux 2006:16679490}" "-BccI" "" "Homozygous" "Germline" "" "rs41298757" "0" "" "" "g.77211823C>T" "" "benign" "" "0000379448" "10" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2006:16679490}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379449" "20" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2006:16679490}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379450" "20" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379451" "10" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379452" "20" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379453" "10" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2006:16679490}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379454" "20" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2006:16679490}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379455" "10" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2006:16679490}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379456" "20" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2006:16679490}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379457" "10" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379458" "20" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379459" "10" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Roux 2006:16679490}" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379460" "20" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Roux 2006:16679490}" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379461" "10" "11" "11" "76908732" "76908732" "subst" "0" "02416" "MYO7A_000040" "g.76908732T>C" "" "{PMID:Roux 2006:16679490}" "-BsrDI" "" "Homozygous" "Germline" "" "rs11237115" "0" "" "" "g.77197687T>C" "" "benign" "" "0000379462" "20" "11" "11" "76908732" "76908732" "subst" "0" "02416" "MYO7A_000040" "g.76908732T>C" "" "{PMID:Roux 2006:16679490}" "-BsrDI" "" "Homozygous" "Germline" "" "rs11237115" "0" "" "" "g.77197687T>C" "" "benign" "" "0000379463" "10" "11" "11" "76908684" "76908684" "subst" "0" "02416" "MYO7A_000079" "g.76908684G>A" "" "{PMID:Roux 2006:16679490}" "" "" "Homozygous\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000379464" "20" "11" "11" "76908684" "76908684" "subst" "0" "02416" "MYO7A_000079" "g.76908684G>A" "" "{PMID:Roux 2006:16679490}" "" "" "Homozygous\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000379465" "10" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2006:16679490}" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379466" "20" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2006:16679490}" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379467" "10" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2006:16679490}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379468" "20" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2006:16679490}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379469" "10" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2006:16679490}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Homozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379470" "20" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2006:16679490}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Homozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379471" "10" "11" "11" "76894235" "76894235" "subst" "0.544568" "02416" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Roux 2006:16679490}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Homozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000379472" "20" "11" "11" "76894235" "76894235" "subst" "0.544568" "02416" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Roux 2006:16679490}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Homozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000379473" "10" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "Homozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379474" "20" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "Homozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379475" "10" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Roux 2006:16679490}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000379476" "20" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Roux 2006:16679490}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000379477" "0" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Heterozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379478" "1" "99" "11" "76890090" "76890090" "subst" "0" "02416" "MYO7A_000086" "g.76890090G>T" "" "{PMID:Roux 2006:16679490}" "+FatI;+NlaIII;+CviAII;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77179044G>T" "" "pathogenic" "" "0000379479" "2" "95" "11" "76867925" "76867925" "subst" "0" "02416" "MYO7A_000087" "g.76867925A>G" "0/352 controls" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:T204A} USMA-{MSV3dQ13402:p.Thr204Ala}" "+PhoI;+HaeIII;+BsaJI;+StyI;+CviKI_1;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156879A>G" "" "likely pathogenic" "ACMG" "0000379480" "10" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000088" "g.76925075G>A" "" "{PMID:Roux 2006:16679490}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77214030G>A" "" "benign" "" "0000379481" "20" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000088" "g.76925075G>A" "" "{PMID:Roux 2006:16679490}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77214030G>A" "" "benign" "" "0000379482" "0" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Roux 2006:16679490}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Heterozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379483" "10" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2006:16679490}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379484" "20" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2006:16679490}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379485" "0" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2006:16679490}" "+SpeI" "" "Heterozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379486" "0" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Heterozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379487" "0" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2006:16679490}" "none" "" "Heterozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379488" "0" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Heterozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379489" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Roux 2006:16679490}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379490" "0" "11" "11" "76908732" "76908732" "subst" "0" "02416" "MYO7A_000040" "g.76908732T>C" "" "{PMID:Roux 2006:16679490}" "-BsrDI" "" "Heterozygous" "Germline" "" "rs11237115" "0" "" "" "g.77197687T>C" "" "benign" "" "0000379491" "0" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2006:16679490}" "-BtsCI;-Hpy166II;-FokI;" "" "Heterozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379492" "0" "11" "11" "76894235" "76894235" "subst" "0.544568" "02416" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Roux 2006:16679490}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Heterozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000379493" "0" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2006:16679490}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Heterozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379494" "0" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "Heterozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379495" "0" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Heterozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379496" "1" "99" "11" "76919504" "76919507" "del" "0" "02416" "MYO7A_000089" "g.76919504_76919507del" "" "{PMID:Roux 2011:21436283}" "" "5886_5889delCTTT" "Heterozygous" "Germline" "" "" "0" "" "" "g.77208459_77208462del" "" "pathogenic" "" "0000379497" "10" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379498" "20" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379499" "1" "11" "11" "76924874" "76924874" "subst" "0.382356" "02416" "MYO7A_000090" "g.76924874G>A" "" "{PMID:Roux 2011:21436283}" "+FatI;+NlaIII;+CviAII;-BceAI;" "" "Heterozygous" "Germline" "" "rs883223" "0" "" "" "g.77213829G>A" "" "benign" "" "0000379500" "0" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2011:21436283}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Heterozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379501" "0" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2011:21436283}" "+SpeI" "" "Heterozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379502" "1" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "Heterozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379503" "2" "99" "11" "76918448" "76918448" "subst" "0" "02416" "MYO7A_000091" "g.76918448G>A" "" "{PMID:Roux 2011:21436283}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77207403G>A" "" "pathogenic" "" "0000379504" "1" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Heterozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379505" "10" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379506" "20" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379507" "0" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Heterozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379508" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Roux 2011:21436283}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379509" "0" "11" "11" "76908732" "76908732" "subst" "0" "02416" "MYO7A_000040" "g.76908732T>C" "" "{PMID:Roux 2011:21436283}" "-BsrDI" "" "Heterozygous" "Germline" "" "rs11237115" "0" "" "" "g.77197687T>C" "" "benign" "" "0000379510" "0" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2011:21436283}" "-BtsCI;-Hpy166II;-FokI;" "" "Heterozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379511" "10" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2011:21436283}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379512" "20" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2011:21436283}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379513" "0" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "{PMID:Roux 2011:21436283}" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Heterozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000379514" "0" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2011:21436283}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Heterozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379515" "2" "11" "11" "76891042" "76891042" "subst" "0" "02416" "MYO7A_000092" "g.76891042G>A" "" "{PMID:Roux 2011:21436283}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77179996G>A" "" "benign" "" "0000379516" "0" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2011:21436283}" "-SfaNI" "" "Heterozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379517" "0" "11" "11" "76872169" "76872169" "subst" "0.0961573" "02416" "MYO7A_000093" "g.76872169G>A" "" "{PMID:Roux 2011:21436283}" "+FatI;+NlaIII;+CviAII;-BstUI;" "" "Heterozygous" "Germline" "" "rs2276278" "0" "" "" "g.77161123G>A" "" "benign" "" "0000379518" "0" "11" "11" "76870458" "76870458" "subst" "0.0986801" "02416" "MYO7A_000094" "g.76870458C>G" "" "{PMID:Roux 2011:21436283}" "" "" "Heterozygous" "Germline" "" "rs2071151" "0" "" "" "g.77159412C>G" "" "benign" "" "0000379519" "2" "11" "11" "76868278" "76868278" "subst" "0.0959973" "02416" "MYO7A_000095" "g.76868278C>A" "" "{PMID:Roux 2011:21436283}" "-BseRI" "" "Heterozygous" "Germline" "" "rs3737454" "0" "" "" "g.77157232C>A" "" "benign" "" "0000379520" "0" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Roux 2011:21436283}" "+FatI;+NlaIII;+CviAII;" "" "Heterozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000379521" "10" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379522" "2" "99" "11" "76922952" "76922967" "del" "0" "02416" "MYO7A_000096" "g.76922952_76922967del" "" "{PMID:Roux 2006:16679490}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77211907_77211922del" "" "pathogenic" "" "0000379523" "1" "99" "11" "76916658" "76916658" "del" "0" "02416" "MYO7A_000061" "g.76916658del" "" "{PMID:Roux 2006:16679490}" "" "5632delC" "Heterozygous" "Germline" "" "" "0" "" "" "g.77205613del" "" "pathogenic" "" "0000379524" "10" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2006:16679490}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379525" "20" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2006:16679490}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379526" "0" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2006:16679490}" "+SpeI" "" "Heterozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379527" "0" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Heterozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379528" "0" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2006:16679490}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Heterozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379529" "0" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2006:16679490}" "none" "" "Heterozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379530" "0" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Heterozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379531" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Roux 2006:16679490}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379532" "0" "11" "11" "76908732" "76908732" "subst" "0" "02416" "MYO7A_000040" "g.76908732T>C" "" "{PMID:Roux 2006:16679490}" "-BsrDI" "" "Heterozygous" "Germline" "" "rs11237115" "0" "" "" "g.77197687T>C" "" "benign" "" "0000379533" "10" "11" "11" "76908486" "76908486" "subst" "0.0000268179" "02416" "MYO7A_000097" "g.76908486G>T" "" "{PMID:Roux 2006:16679490}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77197441G>T" "" "benign" "" "0000379534" "20" "11" "11" "76908486" "76908486" "subst" "0.0000268179" "02416" "MYO7A_000097" "g.76908486G>T" "" "{PMID:Roux 2006:16679490}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77197441G>T" "" "benign" "" "0000379535" "0" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2006:16679490}" "-BtsCI;-Hpy166II;-FokI;" "" "Heterozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379536" "10" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2006:16679490}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379537" "20" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2006:16679490}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379538" "0" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "{PMID:Roux 2006:16679490}" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Heterozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000379539" "10" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2006:16679490}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Homozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379540" "20" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2006:16679490}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Homozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379541" "0" "11" "11" "76870461" "76870461" "subst" "0" "02416" "MYO7A_000098" "g.76870461T>G" "" "{PMID:Roux 2006:16679490}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77159415T>G" "" "benign" "" "0000379542" "0" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Roux 2006:16679490}" "+FatI;+NlaIII;+CviAII;" "" "Heterozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000379543" "20" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379544" "10" "95" "11" "76867722" "76867722" "subst" "0.00000406157" "02416" "MYO7A_000099" "g.76867722G>A" "0/664 controls" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:G163R} USMA-{MSV3dQ13402:p.Gly163Arg}" "+BstNI;+PspGI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77156676G>A" "" "likely pathogenic" "ACMG" "0000379545" "20" "95" "11" "76867722" "76867722" "subst" "0.00000406157" "02416" "MYO7A_000099" "g.76867722G>A" "0/664 controls" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:G163R} USMA-{MSV3dQ13402:p.Gly163Arg}" "+BstNI;+PspGI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77156676G>A" "" "likely pathogenic" "ACMG" "0000379546" "10" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2006:16679490}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379547" "20" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2006:16679490}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379548" "10" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2006:16679490}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379549" "20" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2006:16679490}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379550" "10" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2006:16679490}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379551" "20" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2006:16679490}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379552" "10" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379553" "20" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379554" "10" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Roux 2006:16679490}" "+BsmFI;-AhdI;" "" "Homozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000379555" "20" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Roux 2006:16679490}" "+BsmFI;-AhdI;" "" "Homozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000379556" "10" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379557" "20" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379558" "10" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2006:16679490}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379559" "20" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2006:16679490}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379560" "10" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2006:16679490}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379561" "20" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2006:16679490}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379562" "10" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379563" "20" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379564" "10" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Roux 2006:16679490}" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379565" "20" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Roux 2006:16679490}" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379566" "10" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2006:16679490}" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379567" "20" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2006:16679490}" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379568" "10" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2006:16679490}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379569" "20" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2006:16679490}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379570" "10" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "{PMID:Roux 2006:16679490}" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Homozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000379571" "20" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "{PMID:Roux 2006:16679490}" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Homozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000379572" "10" "11" "11" "76894235" "76894235" "subst" "0.544568" "02416" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Roux 2006:16679490}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Homozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000379573" "20" "11" "11" "76894235" "76894235" "subst" "0.544568" "02416" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Roux 2006:16679490}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Homozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000379574" "10" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2006:16679490}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Homozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379575" "20" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2006:16679490}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Homozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379576" "10" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "Homozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379577" "20" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "Homozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379578" "10" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379579" "10" "11" "11" "76885901" "76885901" "subst" "0.00419911" "02416" "MYO7A_000066" "g.76885901G>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:V679I} USMA-{MSV3dQ13402:p.Val679Ile}" "" "" "Homozygous" "Germline" "" "rs35641839" "0" "" "" "g.77174855G>A" "" "benign" "" "0000379580" "20" "11" "11" "76885901" "76885901" "subst" "0.00419911" "02416" "MYO7A_000066" "g.76885901G>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:V679I} USMA-{MSV3dQ13402:p.Val679Ile}" "" "" "Homozygous" "Germline" "" "rs35641839" "0" "" "" "g.77174855G>A" "" "benign" "" "0000379581" "10" "99" "11" "76870494" "76870501" "del" "0" "02416" "MYO7A_000100" "g.76870494_76870501del" "" "{PMID:Roux 2006:16679490}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77159448_77159455del" "" "pathogenic" "" "0000379582" "20" "99" "11" "76870494" "76870501" "del" "0" "02416" "MYO7A_000100" "g.76870494_76870501del" "" "{PMID:Roux 2006:16679490}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77159448_77159455del" "" "pathogenic" "" "0000379583" "10" "11" "11" "76923017" "76923017" "subst" "0.180455" "02416" "MYO7A_000034" "g.76923017G>A" "" "{PMID:Roux 2006:16679490}" "+BseRI" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77211972G>A" "" "benign" "" "0000379584" "20" "11" "11" "76923017" "76923017" "subst" "0.180455" "02416" "MYO7A_000034" "g.76923017G>A" "" "{PMID:Roux 2006:16679490}" "+BseRI" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77211972G>A" "" "benign" "" "0000379585" "10" "11" "11" "76922946" "76922946" "subst" "0.17794" "02416" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Homozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000379586" "20" "11" "11" "76922946" "76922946" "subst" "0.17794" "02416" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Homozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000379587" "10" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2006:16679490}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379588" "20" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2006:16679490}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379589" "10" "11" "11" "76919619" "76919619" "subst" "0" "02416" "MYO7A_000051" "g.76919619G>A" "" "{PMID:Roux 2006:16679490}" "+DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI;" "" "Homozygous" "Germline" "" "rs948961" "0" "" "" "g.77208574G>A" "" "benign" "" "0000379590" "20" "11" "11" "76919619" "76919619" "subst" "0" "02416" "MYO7A_000051" "g.76919619G>A" "" "{PMID:Roux 2006:16679490}" "+DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI;" "" "Homozygous" "Germline" "" "rs948961" "0" "" "" "g.77208574G>A" "" "benign" "" "0000379591" "10" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379592" "20" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379593" "10" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Roux 2006:16679490}" "+BsmFI;-AhdI;" "" "Homozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000379594" "20" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Roux 2006:16679490}" "+BsmFI;-AhdI;" "" "Homozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000379595" "10" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2006:16679490}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379596" "20" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2006:16679490}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379597" "10" "11" "11" "76914275" "76914275" "subst" "0.00498703" "02416" "MYO7A_000068" "g.76914275C>T" "" "{PMID:Roux 2006:16679490}" "" "" "Homozygous" "Germline" "" "rs114157944" "0" "" "" "g.77203230C>T" "" "benign" "" "0000379598" "20" "11" "11" "76914275" "76914275" "subst" "0.00498703" "02416" "MYO7A_000068" "g.76914275C>T" "" "{PMID:Roux 2006:16679490}" "" "" "Homozygous" "Germline" "" "rs114157944" "0" "" "" "g.77203230C>T" "" "benign" "" "0000379599" "10" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379600" "20" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379601" "10" "11" "11" "76910600" "76910600" "subst" "0.0056044" "02416" "MYO7A_000069" "g.76910600C>T" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:S1530L} USMA-{MSV3dQ13402:p.Ser1530Leu}" "-TspRI" "" "Homozygous" "Germline" "" "rs111033183" "0" "" "" "g.77199555C>T" "" "benign" "" "0000379602" "20" "11" "11" "76910600" "76910600" "subst" "0.0056044" "02416" "MYO7A_000069" "g.76910600C>T" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:S1530L} USMA-{MSV3dQ13402:p.Ser1530Leu}" "-TspRI" "" "Homozygous" "Germline" "" "rs111033183" "0" "" "" "g.77199555C>T" "" "benign" "" "0000379603" "10" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2006:16679490}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379604" "20" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2006:16679490}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379605" "10" "11" "11" "76901819" "76901819" "subst" "0.00498058" "02416" "MYO7A_000070" "g.76901819G>A" "" "{PMID:Roux 2006:16679490}" "" "" "Homozygous" "Germline" "" "rs78871677" "0" "" "" "g.77190774G>A" "" "benign" "" "0000379606" "20" "11" "11" "76901819" "76901819" "subst" "0.00498058" "02416" "MYO7A_000070" "g.76901819G>A" "" "{PMID:Roux 2006:16679490}" "" "" "Homozygous" "Germline" "" "rs78871677" "0" "" "" "g.77190774G>A" "" "benign" "" "0000379607" "10" "11" "11" "76894235" "76894235" "subst" "0" "02416" "MYO7A_000101" "g.76894235G>A" "" "{PMID:Roux 2006:16679490}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77183190G>A" "" "benign" "" "0000379608" "20" "11" "11" "76894235" "76894235" "subst" "0" "02416" "MYO7A_000101" "g.76894235G>A" "" "{PMID:Roux 2006:16679490}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77183190G>A" "" "benign" "" "0000379609" "10" "11" "11" "76872169" "76872169" "subst" "0.0961573" "02416" "MYO7A_000093" "g.76872169G>A" "" "{PMID:Roux 2006:16679490}" "+FatI;+NlaIII;+CviAII;-BstUI;" "" "Homozygous" "Germline" "" "rs2276278" "0" "" "" "g.77161123G>A" "" "benign" "" "0000379610" "20" "11" "11" "76872169" "76872169" "subst" "0.0961573" "02416" "MYO7A_000093" "g.76872169G>A" "" "{PMID:Roux 2006:16679490}" "+FatI;+NlaIII;+CviAII;-BstUI;" "" "Homozygous" "Germline" "" "rs2276278" "0" "" "" "g.77161123G>A" "" "benign" "" "0000379611" "10" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Roux 2006:16679490}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000379612" "20" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Roux 2006:16679490}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000379613" "10" "11" "11" "76867233" "76867233" "subst" "0" "02416" "MYO7A_000102" "g.76867233C>T" "" "{PMID:Roux 2006:16679490}" "" "" "Homozygous" "Germline" "" "rs55880704" "0" "" "" "g.77156187C>T" "" "benign" "" "0000379614" "20" "11" "11" "76867233" "76867233" "subst" "0" "02416" "MYO7A_000102" "g.76867233C>T" "" "{PMID:Roux 2006:16679490}" "" "" "Homozygous" "Germline" "" "rs55880704" "0" "" "" "g.77156187C>T" "" "benign" "" "0000379615" "20" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379616" "10" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379617" "10" "11" "11" "76922946" "76922946" "subst" "0.17794" "02416" "MYO7A_000035" "g.76922946G>A" "" "" "none" "" "Homozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000379618" "20" "11" "11" "76922946" "76922946" "subst" "0.17794" "02416" "MYO7A_000035" "g.76922946G>A" "" "" "none" "" "Homozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000379619" "10" "11" "11" "76922868" "76922868" "subst" "0.0258668" "02416" "MYO7A_000036" "g.76922868C>T" "" "" "-BccI" "" "Homozygous" "Germline" "" "rs41298757" "0" "" "" "g.77211823C>T" "" "benign" "" "0000379620" "20" "11" "11" "76922868" "76922868" "subst" "0.0258668" "02416" "MYO7A_000036" "g.76922868C>T" "" "" "-BccI" "" "Homozygous" "Germline" "" "rs41298757" "0" "" "" "g.77211823C>T" "" "benign" "" "0000379621" "10" "11" "11" "76923017" "76923017" "subst" "0.180455" "02416" "MYO7A_000034" "g.76923017G>A" "" "" "+BseRI" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77211972G>A" "" "benign" "" "0000379622" "20" "11" "11" "76923017" "76923017" "subst" "0.180455" "02416" "MYO7A_000034" "g.76923017G>A" "" "" "+BseRI" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77211972G>A" "" "benign" "" "0000379623" "10" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379624" "20" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379625" "10" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Homozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379626" "20" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Homozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379627" "10" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379628" "20" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379629" "20" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379630" "10" "99" "11" "76867729" "76867729" "subst" "0.0000284289" "02416" "MYO7A_000078" "g.76867729C>T" "0/352 controls" "USMA-{USMAMYO7A:T165M} USMA-{MSV3dQ13402:p.Thr165Met}" "" "" "Homozygous" "Germline" "" "rs111033174" "0" "" "" "g.77156683C>T" "" "pathogenic" "" "0000379631" "20" "99" "11" "76867729" "76867729" "subst" "0.0000284289" "02416" "MYO7A_000078" "g.76867729C>T" "0/352 controls" "USMA-{USMAMYO7A:T165M} USMA-{MSV3dQ13402:p.Thr165Met}" "" "" "Homozygous" "Germline" "" "rs111033174" "0" "" "" "g.77156683C>T" "" "pathogenic" "" "0000379632" "10" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Homozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379633" "20" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Homozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379634" "10" "11" "11" "76894235" "76894235" "subst" "0.544568" "02416" "MYO7A_000071" "g.76894235G>C" "" "" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Homozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000379635" "20" "11" "11" "76894235" "76894235" "subst" "0.544568" "02416" "MYO7A_000071" "g.76894235G>C" "" "" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Homozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000379636" "10" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Homozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000379637" "20" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Homozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000379638" "10" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379639" "20" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379640" "10" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379641" "20" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379642" "10" "11" "11" "76908732" "76908732" "subst" "0" "02416" "MYO7A_000040" "g.76908732T>C" "" "" "-BsrDI" "" "Homozygous" "Germline" "" "rs11237115" "0" "" "" "g.77197687T>C" "" "benign" "" "0000379643" "20" "11" "11" "76908732" "76908732" "subst" "0" "02416" "MYO7A_000040" "g.76908732T>C" "" "" "-BsrDI" "" "Homozygous" "Germline" "" "rs11237115" "0" "" "" "g.77197687T>C" "" "benign" "" "0000379644" "10" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379645" "20" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379646" "10" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379647" "20" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379648" "10" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379649" "20" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379650" "10" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379651" "20" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379652" "10" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379653" "20" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379654" "10" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "" "+BsmFI;-AhdI;" "" "Homozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000379655" "20" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "" "+BsmFI;-AhdI;" "" "Homozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000379656" "10" "11" "11" "76919619" "76919619" "subst" "0" "02416" "MYO7A_000051" "g.76919619G>A" "" "" "+DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI;" "" "Homozygous" "Germline" "" "rs948961" "0" "" "" "g.77208574G>A" "" "benign" "" "0000379657" "20" "11" "11" "76919619" "76919619" "subst" "0" "02416" "MYO7A_000051" "g.76919619G>A" "" "" "+DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI;" "" "Homozygous" "Germline" "" "rs948961" "0" "" "" "g.77208574G>A" "" "benign" "" "0000379658" "10" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379659" "20" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379660" "10" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379661" "20" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379662" "1" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Heterozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379663" "2" "75" "11" "76867728" "76867728" "subst" "0" "02416" "MYO7A_000103" "g.76867728A>G" "0/664 controls" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:T165A} USMA-{MSV3dQ13402:p.Thr165Ala}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156682A>G" "" "VUS" "ACMG" "0000379664" "1" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2011:21436283}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Heterozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379665" "0" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Heterozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379666" "1" "99" "11" "76915186" "76915186" "subst" "0.0000318599" "02416" "MYO7A_000028" "g.76915186C>T" "" "{PMID:Roux 2011:21436283}" "+BfaI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77204141C>T" "" "pathogenic" "" "0000379667" "10" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379668" "1" "99" "11" "76919822" "76919822" "del" "0" "02416" "MYO7A_000104" "g.76919822del" "" "{PMID:Roux 2006:16679490}" "-EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI;" "6025delG" "Heterozygous" "Germline" "" "" "0" "" "" "g.77208777del" "" "pathogenic" "" "0000379669" "2" "95" "11" "76873891" "76873891" "subst" "0" "02416" "MYO7A_000105" "g.76873891C>G" "0/100 controls" "{PMID:Roux 2006:16679490}" "+BpmI;+BsrI;+BsmFI;" "" "Heterozygous; ins last 7 nt IVS13 + skipping E14 (Le Guédard-Méreuze , 2010)" "Germline" "" "" "0" "" "" "g.77162845C>G" "" "likely pathogenic" "ACMG" "0000379670" "0" "11" "11" "76925641" "76925641" "subst" "0.0181384" "02416" "MYO7A_000106" "g.76925641C>T" "" "{PMID:Roux 2006:16679490}" "+MnlI" "" "Heterozygous" "Germline" "" "rs34517202" "0" "" "" "g.77214596C>T" "" "benign" "" "0000379671" "10" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2006:16679490}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379672" "20" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2006:16679490}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379673" "0" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Roux 2006:16679490}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Heterozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379674" "10" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2006:16679490}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379675" "20" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2006:16679490}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379676" "0" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "Heterozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379677" "0" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2006:16679490}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Heterozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379678" "0" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2006:16679490}" "none" "" "Heterozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379679" "0" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Heterozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379680" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Roux 2006:16679490}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379681" "0" "11" "11" "76908732" "76908732" "subst" "0" "02416" "MYO7A_000107" "g.76908732T>A" "" "{PMID:Roux 2006:16679490}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77197687T>A" "" "benign" "" "0000379682" "0" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2006:16679490}" "-BtsCI;-Hpy166II;-FokI;" "" "Heterozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379683" "0" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2006:16679490}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Heterozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379684" "0" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "{PMID:Roux 2006:16679490}" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Heterozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000379685" "0" "11" "11" "76894235" "76894235" "subst" "0.544568" "02416" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Roux 2006:16679490}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Heterozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000379686" "0" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2006:16679490}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Heterozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379687" "20" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2006:16679490}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379688" "10" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379689" "10" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379690" "20" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379691" "10" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2011:21436283}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379692" "20" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2011:21436283}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379693" "0" "11" "11" "76923017" "76923017" "subst" "0.180455" "02416" "MYO7A_000034" "g.76923017G>A" "" "{PMID:Roux 2011:21436283}" "+BseRI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77211972G>A" "" "benign" "" "0000379694" "0" "11" "11" "76922946" "76922946" "subst" "0.17794" "02416" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "Heterozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000379695" "0" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2011:21436283}" "+SpeI" "" "Heterozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379696" "0" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "Heterozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379697" "0" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Heterozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379698" "0" "11" "11" "76917106" "76917106" "subst" "0.00377677" "02416" "MYO7A_000108" "g.76917106C>T" "" "{PMID:Roux 2011:21436283}" "" "" "Heterozygous" "Germline" "" "rs114799198" "0" "" "" "g.77206061C>T" "" "benign" "" "0000379699" "0" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "Heterozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379700" "0" "11" "11" "76916464" "76916464" "subst" "0.00535943" "02416" "MYO7A_000109" "g.76916464C>T" "" "{PMID:Roux 2011:21436283}" "none" "" "Heterozygous" "Germline" "" "rs113422380" "0" "" "" "g.77205419C>T" "" "benign" "" "0000379701" "0" "11" "11" "76913457" "76913457" "subst" "0.0161284" "02416" "MYO7A_000081" "g.76913457A>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:Y1719C} USMA-{MSV3dQ13402:p.Tyr1719Cys}" "+Tsp45I" "" "Heterozygous" "Germline" "" "rs77625410" "0" "" "" "g.77202412A>G" "" "benign" "" "0000379702" "0" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Heterozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379703" "0" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "{PMID:Roux 2011:21436283}" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Heterozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000379704" "0" "11" "11" "76894235" "76894235" "subst" "0.544568" "02416" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Roux 2011:21436283}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Heterozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000379705" "10" "11" "11" "76893724" "76893724" "subst" "0" "02416" "MYO7A_000110" "g.76893724C>T" "" "{PMID:Roux 2011:21436283}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77182679C>T" "" "benign" "" "0000379706" "20" "11" "11" "76893724" "76893724" "subst" "0" "02416" "MYO7A_000110" "g.76893724C>T" "" "{PMID:Roux 2011:21436283}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77182679C>T" "" "benign" "" "0000379707" "20" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379708" "0" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Roux 2011:21436283}" "+FatI;+NlaIII;+CviAII;" "" "Heterozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000379709" "0" "99" "11" "76872121" "76872121" "del" "0" "02416" "MYO7A_000111" "g.76872121del" "" "{PMID:Roux 2011:21436283}" "" "1303delC" "Heterozygous" "Germline" "" "" "0" "" "" "g.77161075del" "" "pathogenic" "" "0000379710" "0" "99" "11" "76892528" "76892528" "del" "0" "02416" "MYO7A_000112" "g.76892528del" "" "{PMID:Roux 2011:21436283}" "" "2797delC" "Heterozygous" "Germline" "" "" "0" "" "" "g.77181482del" "" "pathogenic" "" "0000379711" "10" "99" "11" "76900393" "76900393" "subst" "0.0000162752" "02416" "MYO7A_000023" "g.76900393G>A" "" "USMA-{USMAMYO7A:E1170K} USMA-{MSV3dQ13402:p.Glu1170Lys}" "none" "" "Homozygous" "Germline" "" "rs111033214" "0" "" "" "g.77189348G>A" "" "pathogenic" "" "0000379712" "10" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379713" "20" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379714" "10" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Homozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379715" "20" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Homozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379716" "10" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379717" "20" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379718" "20" "99" "11" "76900393" "76900393" "subst" "0.0000162752" "02416" "MYO7A_000023" "g.76900393G>A" "" "USMA-{USMAMYO7A:E1170K} USMA-{MSV3dQ13402:p.Glu1170Lys}" "none" "" "Homozygous" "Germline" "" "rs111033214" "0" "" "" "g.77189348G>A" "" "pathogenic" "" "0000379719" "0" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Le Guédard-Méreuze 2010:20052763}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Heterozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379720" "10" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379721" "20" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379722" "0" "11" "11" "76925641" "76925641" "subst" "0.0181384" "02416" "MYO7A_000106" "g.76925641C>T" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "+MnlI" "" "Heterozygous" "Germline" "" "rs34517202" "0" "" "" "g.77214596C>T" "" "benign" "" "0000379723" "10" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379724" "20" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379725" "10" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379726" "20" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379727" "1" "99" "11" "76919504" "76919507" "del" "0" "02416" "MYO7A_000089" "g.76919504_76919507del" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "" "5886_5889delCTTT" "Heterozygous" "Germline" "" "" "0" "" "" "g.77208459_77208462del" "" "pathogenic" "" "0000379728" "10" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379729" "20" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379730" "10" "11" "11" "76912755" "76912755" "subst" "0" "02416" "MYO7A_000113" "g.76912755T>A" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "" "" "Homozygous" "Germline" "" "rs75260574" "0" "" "" "g.77201710T>A" "" "benign" "" "0000379731" "20" "11" "11" "76912755" "76912755" "subst" "0" "02416" "MYO7A_000113" "g.76912755T>A" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "" "" "Homozygous" "Germline" "" "rs75260574" "0" "" "" "g.77201710T>A" "" "benign" "" "0000379732" "10" "11" "11" "76908732" "76908732" "subst" "0" "02416" "MYO7A_000040" "g.76908732T>C" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "-BsrDI" "" "Homozygous" "Germline" "" "rs11237115" "0" "" "" "g.77197687T>C" "" "benign" "" "0000379733" "20" "11" "11" "76908732" "76908732" "subst" "0" "02416" "MYO7A_000040" "g.76908732T>C" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "-BsrDI" "" "Homozygous" "Germline" "" "rs11237115" "0" "" "" "g.77197687T>C" "" "benign" "" "0000379734" "10" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379735" "20" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379736" "10" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379737" "20" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379738" "10" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Homozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000379739" "20" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Homozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000379740" "10" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Homozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379741" "20" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Homozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379742" "10" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "-SfaNI" "" "Homozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379743" "20" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "-SfaNI" "" "Homozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379744" "2" "95" "11" "76873891" "76873891" "subst" "0" "02416" "MYO7A_000105" "g.76873891C>G" "0/200 controls" "{PMID:Le Guédard-Méreuze 2010:20052763}" "+BpmI;+BsrI;+BsmFI;" "" "Heterozygous; ins last 7 nt IVS13 + skipping E14" "Germline" "" "" "0" "" "" "g.77162845C>G" "" "likely pathogenic" "ACMG" "0000379745" "0" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Le Guédard-Méreuze 2010:20052763}" "+FatI;+NlaIII;+CviAII;" "" "Heterozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000379746" "1" "99" "11" "76867955" "76867955" "subst" "0.00000406134" "02416" "MYO7A_000118" "g.76867955G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:G214R} USMA-{MSV3dQ13402:p.Gly214Arg}" "none" "" "Heterozygous" "Germline" "" "rs111033283" "0" "" "" "g.77156909G>A" "" "pathogenic" "" "0000379747" "0" "11" "11" "76925609" "76925609" "subst" "0.016191" "02416" "MYO7A_000114" "g.76925609T>C" "" "{PMID:Roux 2011:21436283}" "+NlaIV" "" "Heterozygous" "Germline" "" "rs112028203" "0" "" "" "g.77214564T>C" "" "benign" "" "0000379748" "10" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379749" "20" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379750" "0" "11" "11" "76925049" "76925049" "subst" "0.0167731" "02416" "MYO7A_000115" "g.76925049A>G" "" "{PMID:Roux 2011:21436283}" "+PspGI;+BssKI;+ScrFI;+StyD4I;+BstNI;-BfaI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77214004A>G" "" "benign" "" "0000379751" "0" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Roux 2011:21436283}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Heterozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379752" "0" "11" "11" "76924985" "76924985" "subst" "0.0111808" "02416" "MYO7A_000116" "g.76924985C>T" "" "{PMID:Roux 2011:21436283}" "+Tsp509I;+ApoI;" "" "Heterozygous" "Germline" "" "rs111033230" "0" "" "" "g.77213940C>T" "" "benign" "" "0000379753" "10" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2011:21436283}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379754" "20" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2011:21436283}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379755" "10" "11" "11" "76923017" "76923017" "subst" "0.180455" "02416" "MYO7A_000034" "g.76923017G>A" "" "{PMID:Roux 2011:21436283}" "+BseRI" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77211972G>A" "" "benign" "" "0000379756" "20" "11" "11" "76923017" "76923017" "subst" "0.180455" "02416" "MYO7A_000034" "g.76923017G>A" "" "{PMID:Roux 2011:21436283}" "+BseRI" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77211972G>A" "" "benign" "" "0000379757" "10" "11" "11" "76922946" "76922946" "subst" "0.17794" "02416" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "Homozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000379758" "20" "11" "11" "76922946" "76922946" "subst" "0.17794" "02416" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "Homozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000379759" "0" "11" "11" "76922868" "76922868" "subst" "0.0258668" "02416" "MYO7A_000036" "g.76922868C>T" "" "{PMID:Roux 2011:21436283}" "-BccI" "" "Heterozygous" "Germline" "" "rs41298757" "0" "" "" "g.77211823C>T" "" "benign" "" "0000379760" "0" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2011:21436283}" "+SpeI" "" "Heterozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379761" "10" "11" "11" "76919629" "76919629" "subst" "0" "02416" "MYO7A_000050" "g.76919629C>T" "" "{PMID:Roux 2011:21436283}" "-BceAI" "" "Homozygous" "Germline" "" "rs948960" "0" "" "" "g.77208584C>T" "" "benign" "" "0000379762" "20" "11" "11" "76919629" "76919629" "subst" "0" "02416" "MYO7A_000050" "g.76919629C>T" "" "{PMID:Roux 2011:21436283}" "-BceAI" "" "Homozygous" "Germline" "" "rs948960" "0" "" "" "g.77208584C>T" "" "benign" "" "0000379763" "10" "11" "11" "76919619" "76919619" "subst" "0" "02416" "MYO7A_000051" "g.76919619G>A" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI;" "" "Homozygous" "Germline" "" "rs948961" "0" "" "" "g.77208574G>A" "" "benign" "" "0000379764" "20" "11" "11" "76919619" "76919619" "subst" "0" "02416" "MYO7A_000051" "g.76919619G>A" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI;" "" "Homozygous" "Germline" "" "rs948961" "0" "" "" "g.77208574G>A" "" "benign" "" "0000379765" "0" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Roux 2011:21436283}" "+BsmFI;-AhdI;" "" "Heterozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000379766" "10" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379767" "20" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379768" "0" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "Heterozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379769" "10" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379770" "20" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379771" "10" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379772" "20" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379773" "10" "11" "11" "76916424" "76916424" "subst" "0" "02416" "MYO7A_000084" "g.76916424A>G" "" "{PMID:Roux 2011:21436283}" "+HpyCH4IV;+BsaAI;-FatI;-NlaIII;-CviAII;" "" "Homozygous" "Germline" "" "rs11237121" "0" "" "" "g.77205379A>G" "" "benign" "" "0000379774" "20" "11" "11" "76916424" "76916424" "subst" "0" "02416" "MYO7A_000084" "g.76916424A>G" "" "{PMID:Roux 2011:21436283}" "+HpyCH4IV;+BsaAI;-FatI;-NlaIII;-CviAII;" "" "Homozygous" "Germline" "" "rs11237121" "0" "" "" "g.77205379A>G" "" "benign" "" "0000379775" "0" "11" "11" "76913457" "76913457" "subst" "0.0161284" "02416" "MYO7A_000081" "g.76913457A>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:Y1719C} USMA-{MSV3dQ13402:p.Tyr1719Cys}" "+Tsp45I" "" "Heterozygous" "Germline" "" "rs77625410" "0" "" "" "g.77202412A>G" "" "benign" "" "0000379776" "10" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379777" "20" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379778" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Roux 2011:21436283}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379779" "10" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2011:21436283}" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379780" "20" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2011:21436283}" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379781" "0" "11" "11" "76901999" "76901999" "subst" "0" "02416" "MYO7A_000117" "g.76901999G>A" "" "{PMID:Roux 2011:21436283}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77190954G>A" "" "benign" "" "0000379782" "0" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2011:21436283}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Heterozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379783" "0" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "{PMID:Roux 2011:21436283}" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Heterozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000379784" "0" "11" "11" "76894235" "76894235" "subst" "0.544568" "02416" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Roux 2011:21436283}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Heterozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000379785" "10" "11" "11" "76893724" "76893724" "subst" "0" "02416" "MYO7A_000110" "g.76893724C>T" "" "{PMID:Roux 2011:21436283}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77182679C>T" "" "benign" "" "0000379786" "20" "11" "11" "76893724" "76893724" "subst" "0" "02416" "MYO7A_000110" "g.76893724C>T" "" "{PMID:Roux 2011:21436283}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77182679C>T" "" "benign" "" "0000379787" "0" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2011:21436283}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Heterozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379788" "0" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2011:21436283}" "-SfaNI" "" "Heterozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379789" "0" "11" "11" "76870634" "76870634" "subst" "0" "02416" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Roux 2011:21436283}" "+BsrI;+TspRI;+BmrI;" "" "Heterozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000379790" "0" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Heterozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379791" "2" "95" "11" "76916599" "76916599" "subst" "0.0000247349" "02416" "MYO7A_000080" "g.76916599T>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L1858P} USMA-{MSV3dQ13402:p.Leu1858Pro}" "+FauI;+AciI;-PstI;-HpyCH4V;-SfcI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77205554T>C" "" "likely pathogenic" "ACMG" "0000379792" "0" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Heterozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379793" "0" "11" "11" "76923017" "76923017" "subst" "0.180455" "02416" "MYO7A_000034" "g.76923017G>A" "" "{PMID:Roux 2011:21436283}" "+BseRI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77211972G>A" "" "benign" "" "0000379794" "0" "11" "11" "76922946" "76922946" "subst" "0.17794" "02416" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "Heterozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000379795" "10" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Roux 2011:21436283}" "+BsmFI;-AhdI;" "" "Homozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000379796" "20" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Roux 2011:21436283}" "+BsmFI;-AhdI;" "" "Homozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000379797" "10" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379798" "20" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379799" "10" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379800" "20" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379801" "10" "11" "11" "76916424" "76916424" "subst" "0" "02416" "MYO7A_000084" "g.76916424A>G" "" "{PMID:Roux 2011:21436283}" "+HpyCH4IV;+BsaAI;-FatI;-NlaIII;-CviAII;" "" "Homozygous" "Germline" "" "rs11237121" "0" "" "" "g.77205379A>G" "" "benign" "" "0000379802" "20" "11" "11" "76916424" "76916424" "subst" "0" "02416" "MYO7A_000084" "g.76916424A>G" "" "{PMID:Roux 2011:21436283}" "+HpyCH4IV;+BsaAI;-FatI;-NlaIII;-CviAII;" "" "Homozygous" "Germline" "" "rs11237121" "0" "" "" "g.77205379A>G" "" "benign" "" "0000379803" "10" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Roux 2011:21436283}" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379804" "20" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Roux 2011:21436283}" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379805" "10" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2011:21436283}" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379806" "20" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2011:21436283}" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379807" "10" "11" "11" "76892368" "76892368" "subst" "0" "02416" "MYO7A_000119" "g.76892368C>G" "" "{PMID:Roux 2011:21436283}" "-DdeI;-BspCNI;-Bsu36I;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77181322C>G" "" "benign" "" "0000379808" "20" "11" "11" "76892368" "76892368" "subst" "0" "02416" "MYO7A_000119" "g.76892368C>G" "" "{PMID:Roux 2011:21436283}" "-DdeI;-BspCNI;-Bsu36I;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77181322C>G" "" "benign" "" "0000379809" "10" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2011:21436283}" "-SfaNI" "" "Homozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379810" "20" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2011:21436283}" "-SfaNI" "" "Homozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379811" "1" "95" "11" "76873891" "76873891" "subst" "0" "02416" "MYO7A_000105" "g.76873891C>G" "0/200 controls" "{PMID:Roux 2011:21436283}" "+BpmI;+BsrI;+BsmFI;" "" "Heterozygous; ins last 7 nt IVS13 + skipping E14" "Germline" "" "" "0" "" "" "g.77162845C>G" "" "likely pathogenic" "ACMG" "0000379812" "2" "99" "11" "76901153" "76901153" "subst" "0.0000764877" "02416" "MYO7A_000033" "g.76901153G>A" "0/1414 controls" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:R1240Q} USMA-{MSV3dQ13402:p.Arg1240Gln}" "none" "" "Heterozygous" "Germline" "" "rs111033178" "0" "" "" "g.77190108G>A" "" "pathogenic" "" "0000379813" "10" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Roux 2011:21436283}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Homozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379814" "10" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379815" "20" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379816" "20" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Roux 2011:21436283}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Homozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379817" "10" "99" "11" "76890090" "76890090" "subst" "0" "02416" "MYO7A_000086" "g.76890090G>T" "" "{PMID:Roux 2011:21436283}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179044G>T" "" "pathogenic" "" "0000379818" "20" "99" "11" "76890090" "76890090" "subst" "0" "02416" "MYO7A_000086" "g.76890090G>T" "" "{PMID:Roux 2011:21436283}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179044G>T" "" "pathogenic" "" "0000379819" "10" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379820" "10" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379821" "20" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379822" "10" "11" "11" "76924874" "76924874" "subst" "0.382356" "02416" "MYO7A_000090" "g.76924874G>A" "" "{PMID:Roux 2011:21436283}" "+FatI;+NlaIII;+CviAII;-BceAI;" "" "Homozygous" "Germline" "" "rs883223" "0" "" "" "g.77213829G>A" "" "benign" "" "0000379823" "20" "11" "11" "76924874" "76924874" "subst" "0.382356" "02416" "MYO7A_000090" "g.76924874G>A" "" "{PMID:Roux 2011:21436283}" "+FatI;+NlaIII;+CviAII;-BceAI;" "" "Homozygous" "Germline" "" "rs883223" "0" "" "" "g.77213829G>A" "" "benign" "" "0000379824" "10" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2011:21436283}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379825" "20" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2011:21436283}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379826" "10" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2011:21436283}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379827" "20" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2011:21436283}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379828" "10" "11" "11" "76919629" "76919629" "subst" "0" "02416" "MYO7A_000050" "g.76919629C>T" "" "{PMID:Roux 2011:21436283}" "-BceAI" "" "Homozygous" "Germline" "" "rs948960" "0" "" "" "g.77208584C>T" "" "benign" "" "0000379829" "20" "11" "11" "76919629" "76919629" "subst" "0" "02416" "MYO7A_000050" "g.76919629C>T" "" "{PMID:Roux 2011:21436283}" "-BceAI" "" "Homozygous" "Germline" "" "rs948960" "0" "" "" "g.77208584C>T" "" "benign" "" "0000379830" "10" "11" "11" "76919619" "76919619" "subst" "0" "02416" "MYO7A_000051" "g.76919619G>A" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI;" "" "Homozygous" "Germline" "" "rs948961" "0" "" "" "g.77208574G>A" "" "benign" "" "0000379831" "20" "11" "11" "76919619" "76919619" "subst" "0" "02416" "MYO7A_000051" "g.76919619G>A" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI;" "" "Homozygous" "Germline" "" "rs948961" "0" "" "" "g.77208574G>A" "" "benign" "" "0000379832" "10" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Roux 2011:21436283}" "+BsmFI;-AhdI;" "" "Homozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000379833" "20" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Roux 2011:21436283}" "+BsmFI;-AhdI;" "" "Homozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000379834" "20" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379835" "10" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379836" "20" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379837" "10" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379838" "20" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379839" "10" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379840" "20" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379841" "10" "99" "11" "76910659" "76911531" "del" "0" "02416" "MYO7A_000120" "g.76910659_76911531del" "" "{PMID:Roux 2011:21436283}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77199614_77200486del" "" "pathogenic" "" "0000379842" "20" "99" "11" "76910659" "76911531" "del" "0" "02416" "MYO7A_000120" "g.76910659_76911531del" "" "{PMID:Roux 2011:21436283}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77199614_77200486del" "" "pathogenic" "" "0000379843" "10" "11" "11" "76908732" "76908732" "subst" "0" "02416" "MYO7A_000040" "g.76908732T>C" "" "{PMID:Roux 2011:21436283}" "-BsrDI" "" "Homozygous" "Germline" "" "rs11237115" "0" "" "" "g.77197687T>C" "" "benign" "" "0000379844" "20" "11" "11" "76908732" "76908732" "subst" "0" "02416" "MYO7A_000040" "g.76908732T>C" "" "{PMID:Roux 2011:21436283}" "-BsrDI" "" "Homozygous" "Germline" "" "rs11237115" "0" "" "" "g.77197687T>C" "" "benign" "" "0000379845" "10" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2011:21436283}" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379846" "20" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2011:21436283}" "-BtsCI;-Hpy166II;-FokI;" "" "Homozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379847" "10" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2011:21436283}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379848" "20" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2011:21436283}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379849" "10" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "{PMID:Roux 2011:21436283}" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Homozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000379850" "20" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "{PMID:Roux 2011:21436283}" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Homozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000379851" "10" "11" "11" "76894235" "76894235" "subst" "0.544568" "02416" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Roux 2011:21436283}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Homozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000379852" "20" "11" "11" "76894235" "76894235" "subst" "0.544568" "02416" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Roux 2011:21436283}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Homozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000379853" "10" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2011:21436283}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Homozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379854" "20" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2011:21436283}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Homozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379855" "10" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2011:21436283}" "-SfaNI" "" "Homozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379856" "20" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2011:21436283}" "-SfaNI" "" "Homozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379857" "10" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Roux 2011:21436283}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000379858" "20" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Roux 2011:21436283}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000379859" "0" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Heterozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379860" "10" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379861" "20" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379862" "10" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Roux 2011:21436283}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Homozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379863" "20" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Roux 2011:21436283}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Homozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379864" "0" "11" "11" "76923017" "76923017" "subst" "0.180455" "02416" "MYO7A_000034" "g.76923017G>A" "" "{PMID:Roux 2011:21436283}" "+BseRI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77211972G>A" "" "benign" "" "0000379865" "0" "11" "11" "76922946" "76922946" "subst" "0.17794" "02416" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "Heterozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000379866" "0" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2011:21436283}" "+SpeI" "" "Heterozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379867" "0" "11" "11" "76919629" "76919629" "subst" "0" "02416" "MYO7A_000050" "g.76919629C>T" "" "{PMID:Roux 2011:21436283}" "-BceAI" "" "Heterozygous" "Germline" "" "rs948960" "0" "" "" "g.77208584C>T" "" "benign" "" "0000379868" "0" "11" "11" "76919619" "76919619" "subst" "0" "02416" "MYO7A_000051" "g.76919619G>A" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI;" "" "Heterozygous" "Germline" "" "rs948961" "0" "" "" "g.77208574G>A" "" "benign" "" "0000379869" "0" "75" "11" "76919504" "76919506" "del" "0" "02416" "MYO7A_000022" "g.76919504_76919506del" "" "{PMID:Roux 2011:21436283}" "-MboII" "5886_5888delCTT" "Heterozygous" "Germline" "" "rs111033232" "0" "" "" "g.77208459_77208461del" "" "VUS" "ACMG" "0000379870" "0" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Roux 2011:21436283}" "+BsmFI;-AhdI;" "" "Heterozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000379871" "0" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Heterozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379872" "10" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379873" "20" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379874" "0" "11" "11" "76916424" "76916424" "subst" "0" "02416" "MYO7A_000084" "g.76916424A>G" "" "{PMID:Roux 2011:21436283}" "+HpyCH4IV;+BsaAI;-FatI;-NlaIII;-CviAII;" "" "Heterozygous" "Germline" "" "rs11237121" "0" "" "" "g.77205379A>G" "" "benign" "" "0000379875" "0" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Heterozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379876" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Roux 2011:21436283}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379877" "0" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2011:21436283}" "-BtsCI;-Hpy166II;-FokI;" "" "Heterozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379878" "0" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2011:21436283}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Heterozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379879" "0" "11" "11" "76894235" "76894235" "subst" "0.544568" "02416" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Roux 2011:21436283}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Heterozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000379880" "0" "11" "11" "76892943" "76892943" "subst" "0" "02416" "MYO7A_000121" "g.76892943A>T" "" "{PMID:Roux 2011:21436283}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77181897A>T" "" "benign" "" "0000379881" "0" "11" "11" "76892368" "76892368" "subst" "0" "02416" "MYO7A_000119" "g.76892368C>G" "" "{PMID:Roux 2011:21436283}" "-DdeI;-BspCNI;-Bsu36I;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77181322C>G" "" "benign" "" "0000379882" "0" "99" "11" "76890090" "76890090" "subst" "0" "02416" "MYO7A_000086" "g.76890090G>T" "" "{PMID:Roux 2011:21436283}" "+FatI;+NlaIII;+CviAII;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77179044G>T" "" "pathogenic" "" "0000379883" "0" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2011:21436283}" "-SfaNI" "" "Heterozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379884" "0" "11" "11" "76872193" "76872193" "subst" "0.0107523" "02416" "MYO7A_000122" "g.76872193C>T" "" "{PMID:Roux 2011:21436283}" "" "" "Heterozygous" "Germline" "" "rs41298139" "0" "" "" "g.77161147C>T" "" "benign" "" "0000379885" "0" "11" "11" "76872169" "76872169" "subst" "0.0961573" "02416" "MYO7A_000093" "g.76872169G>A" "" "{PMID:Roux 2011:21436283}" "+FatI;+NlaIII;+CviAII;-BstUI;" "" "Heterozygous" "Germline" "" "rs2276278" "0" "" "" "g.77161123G>A" "" "benign" "" "0000379886" "0" "11" "11" "76870458" "76870458" "subst" "0.0986801" "02416" "MYO7A_000094" "g.76870458C>G" "" "{PMID:Roux 2011:21436283}" "" "" "Heterozygous" "Germline" "" "rs2071151" "0" "" "" "g.77159412C>G" "" "benign" "" "0000379887" "0" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Roux 2011:21436283}" "+FatI;+NlaIII;+CviAII;" "" "Heterozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000379888" "0" "11" "11" "76868278" "76868278" "subst" "0.0959973" "02416" "MYO7A_000095" "g.76868278C>A" "" "{PMID:Roux 2011:21436283}" "-BseRI" "" "Heterozygous" "Germline" "" "rs3737454" "0" "" "" "g.77157232C>A" "" "benign" "" "0000379889" "0" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Heterozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379890" "10" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379891" "20" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379892" "10" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Roux 2011:21436283}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Homozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379893" "20" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Roux 2011:21436283}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Homozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379894" "10" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2011:21436283}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379895" "20" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2011:21436283}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379896" "2" "99" "11" "76912644" "76912644" "subst" "0" "02416" "MYO7A_000123" "g.76912644C>G" "" "{PMID:Roux 2011:21436283}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77201599C>G" "" "pathogenic" "" "0000379897" "1" "99" "11" "76919822" "76919822" "del" "0" "02416" "MYO7A_000104" "g.76919822del" "" "{PMID:Roux 2011:21436283}" "-EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI;" "6025delG" "Heterozygous" "Germline" "" "" "0" "" "" "g.77208777del" "" "pathogenic" "" "0000379898" "10" "75" "11" "76916643" "76916643" "subst" "0.0000122487" "02416" "MYO7A_000032" "g.76916643C>T" "" "USMA-{USMAMYO7A:R1873W} USMA-{MSV3dQ13402:p.Arg1873Trp}" "+BsrDI;-BceAI;" "" "Homozygous" "Germline" "" "rs397516321" "0" "" "" "g.77205598C>T" "" "VUS" "ACMG" "0000379899" "20" "75" "11" "76916643" "76916643" "subst" "0.0000122487" "02416" "MYO7A_000032" "g.76916643C>T" "" "USMA-{USMAMYO7A:R1873W} USMA-{MSV3dQ13402:p.Arg1873Trp}" "+BsrDI;-BceAI;" "" "Homozygous" "Germline" "" "rs397516321" "0" "" "" "g.77205598C>T" "" "VUS" "ACMG" "0000379900" "10" "75" "11" "76916643" "76916643" "subst" "0.0000122487" "02416" "MYO7A_000032" "g.76916643C>T" "" "USMA-{USMAMYO7A:R1873W} USMA-{MSV3dQ13402:p.Arg1873Trp}" "+BsrDI;-BceAI;" "" "Homozygous" "Germline" "" "rs397516321" "0" "" "" "g.77205598C>T" "" "VUS" "ACMG" "0000379901" "20" "75" "11" "76916643" "76916643" "subst" "0.0000122487" "02416" "MYO7A_000032" "g.76916643C>T" "" "USMA-{USMAMYO7A:R1873W} USMA-{MSV3dQ13402:p.Arg1873Trp}" "+BsrDI;-BceAI;" "" "Homozygous" "Germline" "" "rs397516321" "0" "" "" "g.77205598C>T" "" "VUS" "ACMG" "0000379902" "10" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379903" "10" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000088" "g.76925075G>A" "" "{PMID:Roux 2011:21436283}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77214030G>A" "" "benign" "" "0000379904" "20" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000088" "g.76925075G>A" "" "{PMID:Roux 2011:21436283}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77214030G>A" "" "benign" "" "0000379905" "10" "11" "11" "76924874" "76924874" "subst" "0.382356" "02416" "MYO7A_000090" "g.76924874G>A" "" "{PMID:Roux 2011:21436283}" "+FatI;+NlaIII;+CviAII;-BceAI;" "" "Homozygous" "Germline" "" "rs883223" "0" "" "" "g.77213829G>A" "" "benign" "" "0000379906" "20" "11" "11" "76924874" "76924874" "subst" "0.382356" "02416" "MYO7A_000090" "g.76924874G>A" "" "{PMID:Roux 2011:21436283}" "+FatI;+NlaIII;+CviAII;-BceAI;" "" "Homozygous" "Germline" "" "rs883223" "0" "" "" "g.77213829G>A" "" "benign" "" "0000379907" "10" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2011:21436283}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379908" "20" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2011:21436283}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379909" "10" "75" "11" "76919504" "76919506" "del" "0" "02416" "MYO7A_000022" "g.76919504_76919506del" "" "{PMID:Roux 2011:21436283}" "-MboII" "5886_5888delCTT" "Homozygous" "Germline" "" "rs111033232" "0" "" "" "g.77208459_77208461del" "" "VUS" "ACMG" "0000379910" "20" "99" "11" "76919504" "76919506" "del" "0" "02416" "MYO7A_000022" "g.76919504_76919506del" "" "{PMID:Roux 2011:21436283}" "-MboII" "5886_5888delCTT" "Homozygous" "Germline" "" "rs111033232" "0" "" "" "g.77208459_77208461del" "" "VUS" "ACMG" "0000379911" "20" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379912" "0" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Heterozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379913" "10" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379914" "20" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379915" "0" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Roux 2011:21436283}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Heterozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379916" "0" "11" "11" "76924874" "76924874" "subst" "0.382356" "02416" "MYO7A_000090" "g.76924874G>A" "" "{PMID:Roux 2011:21436283}" "+FatI;+NlaIII;+CviAII;-BceAI;" "" "Heterozygous" "Germline" "" "rs883223" "0" "" "" "g.77213829G>A" "" "benign" "" "0000379917" "10" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2011:21436283}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379918" "20" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2011:21436283}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379919" "0" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2011:21436283}" "+SpeI" "" "Heterozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379920" "0" "11" "11" "76919629" "76919629" "subst" "0" "02416" "MYO7A_000050" "g.76919629C>T" "" "{PMID:Roux 2011:21436283}" "-BceAI" "" "Heterozygous" "Germline" "" "rs948960" "0" "" "" "g.77208584C>T" "" "benign" "" "0000379921" "0" "11" "11" "76919619" "76919619" "subst" "0" "02416" "MYO7A_000051" "g.76919619G>A" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI;" "" "Heterozygous" "Germline" "" "rs948961" "0" "" "" "g.77208574G>A" "" "benign" "" "0000379922" "0" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Roux 2011:21436283}" "+BsmFI;-AhdI;" "" "Heterozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000379923" "0" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "Heterozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379924" "0" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Heterozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379925" "0" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "Heterozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379926" "0" "75" "11" "76916643" "76916643" "subst" "0.0000122487" "02416" "MYO7A_000032" "g.76916643C>T" "0/352 controls" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:R1873W} USMA-{MSV3dQ13402:p.Arg1873Trp}" "+BsrDI;-BceAI;" "" "Heterozygous" "Germline" "" "rs397516321" "0" "" "" "g.77205598C>T" "" "VUS" "ACMG" "0000379927" "0" "11" "11" "76916424" "76916424" "subst" "0" "02416" "MYO7A_000084" "g.76916424A>G" "" "{PMID:Roux 2011:21436283}" "+HpyCH4IV;+BsaAI;-FatI;-NlaIII;-CviAII;" "" "Heterozygous" "Germline" "" "rs11237121" "0" "" "" "g.77205379A>G" "" "benign" "" "0000379928" "10" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379929" "20" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379930" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Roux 2011:21436283}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379931" "0" "11" "11" "76908732" "76908732" "subst" "0" "02416" "MYO7A_000040" "g.76908732T>C" "" "{PMID:Roux 2011:21436283}" "-BsrDI" "" "Heterozygous" "Germline" "" "rs11237115" "0" "" "" "g.77197687T>C" "" "benign" "" "0000379932" "0" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2011:21436283}" "-BtsCI;-Hpy166II;-FokI;" "" "Heterozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379933" "0" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2011:21436283}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Heterozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379934" "0" "99" "11" "76901136" "76901136" "del" "0" "02416" "MYO7A_000124" "g.76901136del" "" "{PMID:Roux 2011:21436283}" "" "3702delC" "Heterozygous" "Germline" "" "" "0" "" "" "g.77190091del" "" "pathogenic" "" "0000379935" "0" "11" "11" "76894235" "76894235" "subst" "0.544568" "02416" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Roux 2011:21436283}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Heterozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000379936" "0" "11" "11" "76892943" "76892943" "subst" "0" "02416" "MYO7A_000045" "g.76892943A>G" "" "{PMID:Roux 2011:21436283}" "+FauI;+AciI;" "" "Heterozygous" "Germline" "" "rs7117606" "0" "" "" "g.77181897A>G" "" "benign" "" "0000379937" "0" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2011:21436283}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Heterozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379938" "0" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2011:21436283}" "-SfaNI" "" "Heterozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379939" "0" "11" "11" "76870634" "76870634" "subst" "0" "02416" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Roux 2011:21436283}" "+BsrI;+TspRI;+BmrI;" "" "Heterozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000379940" "0" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Heterozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000379941" "2" "99" "11" "76839310" "76913682" "del" "0" "02416" "MYO7A_000125" "g.76839310_76913682del" "" "{PMID:Roux 2011:21436283}" "" "-272-?_5168+213del" "Heterozygous\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000379942" "10" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379943" "20" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379944" "10" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2011:21436283}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379945" "20" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2011:21436283}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Homozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379946" "0" "11" "11" "76920003" "76920003" "subst" "0" "02416" "MYO7A_000049" "g.76920003T>C" "" "{PMID:Roux 2011:21436283}" "+BsmFI;+BceAI;-BccI;-FokI;-PflMI;-BtsCI;" "" "Heterozygous" "Germline" "" "rs11237122" "0" "" "" "g.77208958T>C" "" "benign" "" "0000379947" "0" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2011:21436283}" "+SpeI" "" "Heterozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379948" "0" "11" "11" "76919629" "76919629" "subst" "0" "02416" "MYO7A_000050" "g.76919629C>T" "" "{PMID:Roux 2011:21436283}" "-BceAI" "" "Heterozygous" "Germline" "" "rs948960" "0" "" "" "g.77208584C>T" "" "benign" "" "0000379949" "0" "11" "11" "76919619" "76919619" "subst" "0" "02416" "MYO7A_000051" "g.76919619G>A" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI;" "" "Heterozygous" "Germline" "" "rs948961" "0" "" "" "g.77208574G>A" "" "benign" "" "0000379950" "0" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Roux 2011:21436283}" "+BsmFI;-AhdI;" "" "Heterozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000379951" "0" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "Heterozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379952" "0" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Heterozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379953" "1" "99" "11" "76869472" "76869472" "subst" "0" "02416" "MYO7A_000126" "g.76869472T>G" "" "{PMID:Roux 2011:21436283}" "" "" "Hemizygous" "Germline" "" "rs111033285" "0" "" "" "g.77158426T>G" "" "pathogenic" "" "0000379954" "0" "75" "11" "76871328" "76871328" "subst" "0" "02416" "MYO7A_000127" "g.76871328G>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:K400N} USMA-{MSV3dQ13402:p.Lys400Asn}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77160282G>T" "" "VUS" "ACMG" "0000379955" "0" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Heterozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379956" "0" "11" "11" "76925040" "76925040" "subst" "0.201995" "02416" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Roux 2011:21436283}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Heterozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000379957" "0" "11" "11" "76924130" "76924130" "subst" "0.913536" "02416" "MYO7A_000024" "g.76924130A>T" "" "{PMID:Roux 2011:21436283}" "+BspCNI;+MnlI;+Hpy188I;+DdeI;" "" "Heterozygous" "Germline" "" "rs2276289" "0" "" "" "g.77213085A>T" "" "benign" "" "0000379958" "0" "11" "11" "76919865" "76919865" "subst" "0.566049" "02416" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Roux 2011:21436283}" "+SpeI" "" "Heterozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000379959" "0" "99" "11" "76919822" "76919822" "del" "0" "02416" "MYO7A_000104" "g.76919822del" "" "{PMID:Roux 2011:21436283}" "-EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI;" "6025delG" "Heterozygous" "Germline" "" "" "0" "" "" "g.77208777del" "" "pathogenic" "" "0000379960" "0" "11" "11" "76919629" "76919629" "subst" "0" "02416" "MYO7A_000050" "g.76919629C>T" "" "{PMID:Roux 2011:21436283}" "-BceAI" "" "Heterozygous" "Germline" "" "rs948960" "0" "" "" "g.77208584C>T" "" "benign" "" "0000379961" "0" "11" "11" "76919619" "76919619" "subst" "0" "02416" "MYO7A_000051" "g.76919619G>A" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BspCNI;+Bpu10I;-BsoBI;-AvaI;" "" "Heterozygous" "Germline" "" "rs948961" "0" "" "" "g.77208574G>A" "" "benign" "" "0000379962" "0" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Roux 2011:21436283}" "+BsmFI;-AhdI;" "" "Heterozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000379963" "0" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "Heterozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000379964" "0" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Heterozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000379965" "0" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "Heterozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000379966" "0" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Heterozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000379967" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Roux 2011:21436283}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000379968" "0" "11" "11" "76908802" "76908802" "subst" "0" "02416" "MYO7A_000055" "g.76908802T>C" "" "{PMID:Roux 2011:21436283}" "-BsrDI" "" "Heterozygous" "Germline" "" "rs11237116" "0" "" "" "g.77197757T>C" "" "benign" "" "0000379969" "0" "11" "11" "76908791" "76908791" "subst" "0" "02416" "MYO7A_000056" "g.76908791A>G" "" "{PMID:Roux 2011:21436283}" "+BbvI;+Fnu4HI;+FauI;+ApeKI;+TseI;+AciI;" "" "Heterozygous" "Germline" "" "rs4944149" "0" "" "" "g.77197746A>G" "" "benign" "" "0000379970" "0" "11" "11" "76908732" "76908732" "subst" "0" "02416" "MYO7A_000040" "g.76908732T>C" "" "{PMID:Roux 2011:21436283}" "-BsrDI" "" "Heterozygous" "Germline" "" "rs11237115" "0" "" "" "g.77197687T>C" "" "benign" "" "0000379971" "0" "11" "11" "76905604" "76905604" "subst" "0.549551" "02416" "MYO7A_000041" "g.76905604G>T" "" "{PMID:Roux 2011:21436283}" "-BtsCI;-Hpy166II;-FokI;" "" "Heterozygous" "Germline" "" "rs1109977" "0" "" "" "g.77194559G>T" "" "benign" "" "0000379972" "0" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Roux 2011:21436283}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Heterozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000379973" "0" "11" "11" "76902024" "76902024" "subst" "0" "02416" "MYO7A_000058" "g.76902024G>A" "" "{PMID:Roux 2011:21436283}" "+BspCNI;+DdeI;+BsaJI;" "" "Heterozygous" "Germline" "" "rs4944148" "0" "" "" "g.77190979G>A" "" "benign" "" "0000379974" "0" "11" "11" "76894235" "76894235" "subst" "0.544568" "02416" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Roux 2011:21436283}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Heterozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000379975" "0" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Roux 2011:21436283}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Heterozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000379976" "0" "11" "11" "76890242" "76890242" "subst" "0" "02416" "MYO7A_000059" "g.76890242T>C" "" "{PMID:Roux 2011:21436283}" "+MspA1I;+MwoI;+BbvI;-BtsI;-BstXI;-MslI;" "" "Heterozygous" "Germline" "" "rs10793239" "0" "" "" "g.77179196T>C" "" "benign" "" "0000379977" "0" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Roux 2011:21436283}" "-SfaNI" "" "Heterozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000379978" "0" "11" "11" "76870634" "76870634" "subst" "0" "02416" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Roux 2011:21436283}" "+BsrI;+TspRI;+BmrI;" "" "Heterozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000379979" "0" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Heterozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379980" "1" "99" "11" "76867115" "76867115" "subst" "0" "02416" "MYO7A_000129" "g.76867115C>T" "" "{PMID:Levy 1997:9002678}" "+PvuII;+DdeI;+BspCNI;+AluI;+MspA1I;-BcgI;" "" "Heterozygous" "Germline" "" "rs121965079" "0" "" "" "g.77156069C>T" "" "pathogenic" "" "0000379981" "2" "99" "11" "76867967" "76867972" "del" "0" "02416" "MYO7A_000128" "g.76867967_76867972del" "" "{PMID:Levy 1997:9002678}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156921_77156926del" "" "pathogenic" "" "0000379982" "1" "99" "11" "76901186" "76901186" "subst" "0" "02416" "MYO7A_000130" "g.76901186T>A" "" "{PMID:Levy 1997:9002678}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77190141T>A" "" "pathogenic" "" "0000379983" "2" "99" "11" "76868015" "76868015" "subst" "0.0000365785" "02416" "MYO7A_000131" "g.76868015C>T" "" "{PMID:Levy 1997:9002678}" "-MwoI;-AlwNI;-BstAPI;" "" "Heterozygous" "Germline" "" "rs41298133" "0" "" "" "g.77156969C>T" "" "pathogenic" "" "0000379984" "0" "99" "11" "76867967" "76867972" "del" "0" "02416" "MYO7A_000128" "g.76867967_76867972del" "" "{PMID:Levy 1997:9002678}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156921_77156926del" "" "pathogenic" "" "0000379985" "10" "75" "11" "76924052" "76924052" "subst" "0" "02416" "MYO7A_000132" "g.76924052G>A" "0/100 controls" "{PMID:Levy 1997:9002678}; USMA-{USMAMYO7A:G2137E} USMA-{MSV3dQ13402:p.Gly2137Glu}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77213007G>A" "" "VUS" "ACMG" "0000379986" "20" "75" "11" "76924052" "76924052" "subst" "0" "02416" "MYO7A_000132" "g.76924052G>A" "0/100 controls" "{PMID:Levy 1997:9002678}; USMA-{USMAMYO7A:G2137E} USMA-{MSV3dQ13402:p.Gly2137Glu}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77213007G>A" "" "VUS" "ACMG" "0000379987" "2" "75" "11" "76892594" "76892594" "subst" "0.0000162916" "02416" "MYO7A_000133" "g.76892594G>A" "0/100 controls" "{PMID:Levy 1997:9002678}; USMA-{USMAMYO7A:G955S} USMA-{MSV3dQ13402:p.Gly955Ser}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77181548G>A" "" "VUS" "ACMG" "0000379988" "2" "75" "11" "76892594" "76892594" "subst" "0.0000162916" "02416" "MYO7A_000133" "g.76892594G>A" "0/100 controls" "{PMID:Levy 1997:9002678}; USMA-{USMAMYO7A:G955S} USMA-{MSV3dQ13402:p.Gly955Ser}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77181548G>A" "" "VUS" "ACMG" "0000379989" "2" "99" "11" "76853809" "76853809" "subst" "0.00000825137" "02416" "MYO7A_000134" "g.76853809G>A" "0/100 controls" "{PMID:Levy 1997:9002678}; USMA-{USMAMYO7A:G25R} USMA-{MSV3dQ13402:p.Gly25Arg}" "none" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77142763G>A" "" "pathogenic" "" "0000379990" "1" "99" "11" "76890838" "76890838" "del" "0" "02416" "MYO7A_000135" "g.76890838del" "" "{PMID:Levy 1997:9002678}" "" "2425delC" "Heterozygous" "Germline" "" "" "0" "" "" "g.77179792del" "" "pathogenic" "" "0000379991" "2" "99" "11" "76873164" "76873164" "subst" "0" "02416" "MYO7A_000136" "g.76873164A>G" "0/100 controls" "{PMID:Maubaret 2005:15823922}" "" "" "Heterozygous" "Germline" "" "rs111033415" "0" "" "" "g.77162118A>G" "" "pathogenic" "" "0000379992" "1" "99" "11" "76858934" "76858934" "del" "0" "02416" "MYO7A_000001" "g.76858934del" "0/100 controls" "{PMID:Maubaret 2005:15823922}" "" "223delG" "Heterozygous" "Germline" "" "" "0" "" "" "g.77147888del" "" "pathogenic" "" "0000379993" "0" "99" "11" "76919822" "76919822" "del" "0" "02416" "MYO7A_000104" "g.76919822del" "0/100 controls" "{PMID:Maubaret 2005:15823922}" "-EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI;" "6025delG" "Heterozygous" "Germline" "" "" "0" "" "" "g.77208777del" "" "pathogenic" "" "0000379994" "10" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Gerber 2006:16400615}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000379995" "2" "99" "11" "76919504" "76919507" "del" "0" "02416" "MYO7A_000089" "g.76919504_76919507del" "" "{PMID:Gerber 2006:16400615}" "" "5886_5889delCTTT" "" "Germline" "" "" "0" "" "" "g.77208459_77208462del" "" "pathogenic" "" "0000379996" "1" "75" "11" "76925023" "76925023" "subst" "0" "02416" "MYO7A_000137" "g.76925023T>C" "0/200 controls" "{PMID:Gerber 2006:16400615}; USMA-{USMAMYO7A:L2186P} USMA-{MSV3dQ13402:p.Leu2186Pro}" "+SgrAI;+MspI;+HpaII;+BsaWI;-BsrI;-TspRI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77213978T>C" "" "VUS" "ACMG" "0000379997" "10" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Gerber 2006:16400615}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379998" "20" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Gerber 2006:16400615}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000379999" "0" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Gerber 2006:16400615}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Heterozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000380000" "2" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Gerber 2006:16400615}" "+BsmFI;-AhdI;" "" "Heterozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000380001" "2" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Gerber 2006:16400615}" "none" "" "Heterozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000380002" "2" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Gerber 2006:16400615}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Heterozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000380003" "2" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Gerber 2006:16400615}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Heterozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000380004" "2" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Gerber 2006:16400615}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000380005" "20" "11" "11" "76853783" "76853783" "subst" "0.392567" "02416" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Gerber 2006:16400615}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000380006" "0" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Gerber 2006:16400615}" "+FatI;+NlaIII;+CviAII;" "" "Heterozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000380007" "2" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Gerber 2006:16400615}" "-SfaNI" "" "Heterozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000380008" "2" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Gerber 2006:16400615}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Heterozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000380009" "0" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "{PMID:Gerber 2006:16400615}" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Heterozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000380010" "2" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Gerber 2006:16400615}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Heterozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000380011" "1" "99" "11" "76890926" "76890926" "subst" "0.0000150022" "02416" "MYO7A_000062" "g.76890926G>A" "" "{PMID:Gerber 2006:16400615}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77179880G>A" "" "pathogenic" "" "0000380012" "2" "99" "11" "76869472" "76869472" "subst" "0" "02416" "MYO7A_000126" "g.76869472T>G" "" "{PMID:Gerber 2006:16400615}" "" "" "Heterozygous" "Germline" "" "rs111033285" "0" "" "" "g.77158426T>G" "" "pathogenic" "" "0000380013" "1" "99" "11" "76890926" "76890926" "subst" "0.0000150022" "02416" "MYO7A_000062" "g.76890926G>A" "" "{PMID:Gerber 2006:16400615}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77179880G>A" "" "pathogenic" "" "0000380014" "2" "99" "11" "76869412" "76869412" "del" "0" "02416" "MYO7A_000138" "g.76869412del" "" "{PMID:Gerber 2006:16400615}" "" "938delC" "Heterozygous" "Germline" "" "" "0" "" "" "g.77158366del" "" "pathogenic" "" "0000380015" "2" "99" "11" "76901153" "76901153" "subst" "0.0000764877" "02416" "MYO7A_000033" "g.76901153G>A" "" "{PMID:Gerber 2006:16400615}; USMA-{USMAMYO7A:R1240Q} USMA-{MSV3dQ13402:p.Arg1240Gln}" "none" "" "Heterozygous" "Germline" "" "rs111033178" "0" "" "" "g.77190108G>A" "" "pathogenic" "" "0000380016" "1" "99" "11" "76869472" "76869472" "subst" "0" "02416" "MYO7A_000126" "g.76869472T>G" "" "{PMID:Gerber 2006:16400615}" "" "" "Heterozygous" "Germline" "" "rs111033285" "0" "" "" "g.77158426T>G" "" "pathogenic" "" "0000380017" "2" "99" "11" "76901153" "76901153" "subst" "0.0000764877" "02416" "MYO7A_000033" "g.76901153G>A" "" "{PMID:Gerber 2006:16400615}; USMA-{USMAMYO7A:R1240Q} USMA-{MSV3dQ13402:p.Arg1240Gln}" "none" "" "Heterozygous" "Germline" "" "rs111033178" "0" "" "" "g.77190108G>A" "" "pathogenic" "" "0000380018" "1" "99" "11" "76869472" "76869472" "subst" "0" "02416" "MYO7A_000126" "g.76869472T>G" "" "{PMID:Gerber 2006:16400615}" "" "" "Heterozygous" "Germline" "" "rs111033285" "0" "" "" "g.77158426T>G" "" "pathogenic" "" "0000380019" "10" "99" "11" "76919822" "76919822" "del" "0" "02416" "MYO7A_000104" "g.76919822del" "" "{PMID:Gerber 2006:16400615}" "-EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI;" "6025delG" "Homozygous" "Germline" "" "" "0" "" "" "g.77208777del" "" "pathogenic" "" "0000380020" "20" "99" "11" "76919822" "76919822" "del" "0" "02416" "MYO7A_000104" "g.76919822del" "" "{PMID:Gerber 2006:16400615}" "-EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI;" "6025delG" "Homozygous" "Germline" "" "" "0" "" "" "g.77208777del" "" "pathogenic" "" "0000380021" "1" "99" "11" "76868344" "76868344" "subst" "0" "02416" "MYO7A_000140" "g.76868344A>G" "0/200 controls" "{PMID:Gerber 2006:16400615}; USMA-{USMAMYO7A:Y252C} USMA-{MSV3dQ13402:p.Tyr252Cys}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77157298A>G" "" "pathogenic" "" "0000380022" "2" "99" "11" "76913402" "76913402" "subst" "0" "02416" "MYO7A_000139" "g.76913402C>T" "" "{PMID:Gerber 2006:16400615}" "+Hpy166II" "" "Heterozygous" "Germline" "" "rs111033182" "0" "" "" "g.77202357C>T" "" "pathogenic" "" "0000380023" "10" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Gerber 2006:16400615}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000380024" "2" "99" "11" "76919504" "76919507" "del" "0" "02416" "MYO7A_000089" "g.76919504_76919507del" "" "{PMID:Gerber 2006:16400615}" "" "5886_5889delCTTT" "Heterozygous" "Germline" "" "" "0" "" "" "g.77208459_77208462del" "" "pathogenic" "" "0000380025" "1" "99" "11" "76903183" "76903183" "del" "0" "02416" "MYO7A_000141" "g.76903183del" "" "{PMID:Gerber 2006:16400615}" "" "4012delC" "Heterozygous" "Germline" "" "" "0" "" "" "g.77192138del" "" "pathogenic" "" "0000380026" "10" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Gerber 2006:16400615}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000380027" "20" "11" "11" "76925075" "76925075" "subst" "0" "02416" "MYO7A_000020" "g.76925075G>T" "" "{PMID:Gerber 2006:16400615}" "+DdeI;+BlpI;+AluI;+CviKI_1;" "" "Homozygous" "Germline" "" "rs948959" "0" "" "" "g.77214030G>T" "" "benign" "" "0000380028" "20" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Gerber 2006:16400615}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Homozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000380029" "10" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Gerber 2006:16400615}" "+BsmFI;-AhdI;" "" "Homozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000380030" "20" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Gerber 2006:16400615}" "+BsmFI;-AhdI;" "" "Homozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000380031" "10" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Gerber 2006:16400615}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000380032" "20" "11" "11" "76918497" "76918497" "subst" "0.560737" "02416" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Gerber 2006:16400615}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000380033" "10" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Gerber 2006:16400615}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000380034" "20" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Gerber 2006:16400615}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000380035" "10" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Gerber 2006:16400615}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000380036" "20" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Gerber 2006:16400615}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000380037" "10" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Gerber 2006:16400615}" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000380038" "20" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Gerber 2006:16400615}" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000380039" "10" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Gerber 2006:16400615}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000380040" "20" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Gerber 2006:16400615}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000380041" "10" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "{PMID:Gerber 2006:16400615}" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Homozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000380042" "20" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000043" "g.76895772_76895793del" "" "{PMID:Gerber 2006:16400615}" "-Sau96I;-NciI;-BstNI;-MnlI;-BsmFI;-CviKI_1;" "3503+12_3503+33del22" "Homozygous" "Germline" "" "rs111033223" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000380043" "10" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Gerber 2006:16400615}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Homozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000380044" "20" "11" "11" "76891585" "76891585" "subst" "0" "02416" "MYO7A_000048" "g.76891585G>A" "" "{PMID:Gerber 2006:16400615}" "+StyI;-AvaI;-BsoBI;-MnlI;" "" "Homozygous" "Germline" "" "rs1109163" "0" "" "" "g.77180539G>A" "" "benign" "" "0000380045" "10" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Gerber 2006:16400615}" "-SfaNI" "" "Homozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000380046" "20" "11" "11" "76885779" "76885779" "subst" "0.52779" "02416" "MYO7A_000046" "g.76885779G>A" "" "{PMID:Gerber 2006:16400615}" "-SfaNI" "" "Homozygous" "Germline" "" "rs2276283" "0" "" "" "g.77174733G>A" "" "benign" "" "0000380047" "0" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Gerber 2006:16400615}" "+FatI;+NlaIII;+CviAII;" "" "Heterozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000380048" "10" "99" "11" "76867729" "76867729" "subst" "0.0000284289" "02416" "MYO7A_000078" "g.76867729C>T" "" "{PMID:Gerber 2006:16400615}; USMA-{USMAMYO7A:T165M} USMA-{MSV3dQ13402:p.Thr165Met}" "" "" "Homozygous" "Germline" "" "rs111033174" "0" "" "" "g.77156683C>T" "" "pathogenic" "" "0000380049" "20" "99" "11" "76867729" "76867729" "subst" "0.0000284289" "02416" "MYO7A_000078" "g.76867729C>T" "" "{PMID:Gerber 2006:16400615}; USMA-{USMAMYO7A:T165M} USMA-{MSV3dQ13402:p.Thr165Met}" "" "" "Homozygous" "Germline" "" "rs111033174" "0" "" "" "g.77156683C>T" "" "pathogenic" "" "0000380050" "1" "99" "11" "76919822" "76919822" "del" "0" "02416" "MYO7A_000104" "g.76919822del" "" "{PMID:Gerber 2006:16400615}" "-EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI;" "6025delG" "Heterozygous" "Germline" "" "" "0" "" "" "g.77208777del" "" "pathogenic" "" "0000380051" "2" "99" "11" "76869472" "76869472" "subst" "0" "02416" "MYO7A_000126" "g.76869472T>G" "" "{PMID:Gerber 2006:16400615}" "" "" "Heterozygous" "Germline" "" "rs111033285" "0" "" "" "g.77158426T>G" "" "pathogenic" "" "0000380052" "10" "99" "11" "76891496" "76891496" "dup" "0" "02416" "MYO7A_000142" "g.76891496dup" "0/100 controls" "{PMID:Kumar 2004:15592175}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77180450dup" "" "pathogenic" "" "0000380053" "20" "99" "11" "76891496" "76891496" "dup" "0" "02416" "MYO7A_000142" "g.76891496dup" "0/100 controls" "{PMID:Kumar 2004:15592175}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77180450dup" "" "pathogenic" "" "0000380054" "10" "99" "11" "76891496" "76891496" "dup" "0" "02416" "MYO7A_000142" "g.76891496dup" "0/100 controls" "{PMID:Kumar 2004:15592175}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77180450dup" "" "pathogenic" "" "0000380055" "20" "99" "11" "76891496" "76891496" "dup" "0" "02416" "MYO7A_000142" "g.76891496dup" "0/100 controls" "{PMID:Kumar 2004:15592175}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77180450dup" "" "pathogenic" "" "0000380056" "10" "99" "11" "76891496" "76891496" "dup" "0" "02416" "MYO7A_000142" "g.76891496dup" "0/100 controls" "{PMID:Kumar 2004:15592175}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77180450dup" "" "pathogenic" "" "0000380057" "20" "99" "11" "76891496" "76891496" "dup" "0" "02416" "MYO7A_000142" "g.76891496dup" "0/100 controls" "{PMID:Kumar 2004:15592175}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77180450dup" "" "pathogenic" "" "0000380058" "10" "99" "11" "76891496" "76891496" "dup" "0" "02416" "MYO7A_000142" "g.76891496dup" "0/100 controls" "{PMID:Kumar 2004:15592175}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77180450dup" "" "pathogenic" "" "0000380059" "20" "99" "11" "76891496" "76891496" "dup" "0" "02416" "MYO7A_000142" "g.76891496dup" "0/100 controls" "{PMID:Kumar 2004:15592175}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77180450dup" "" "pathogenic" "" "0000380060" "10" "99" "11" "76891496" "76891496" "dup" "0" "02416" "MYO7A_000142" "g.76891496dup" "0/100 controls" "{PMID:Kumar 2004:15592175}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77180450dup" "" "pathogenic" "" "0000380061" "20" "99" "11" "76891496" "76891496" "dup" "0" "02416" "MYO7A_000142" "g.76891496dup" "0/100 controls" "{PMID:Kumar 2004:15592175}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77180450dup" "" "pathogenic" "" "0000380062" "10" "99" "11" "76867115" "76867115" "subst" "0" "02416" "MYO7A_000129" "g.76867115C>T" "" "Kahrizi et al., P49, 6th Molecular Biology of Hearing and Deafness Conference, 2007." "+PvuII;+DdeI;+BspCNI;+AluI;+MspA1I;-BcgI;" "" "Homozygous" "Germline" "" "rs121965079" "0" "" "" "g.77156069C>T" "" "pathogenic" "" "0000380063" "20" "99" "11" "76867115" "76867115" "subst" "0" "02416" "MYO7A_000129" "g.76867115C>T" "" "Kahrizi et al., P49, 6th Molecular Biology of Hearing and Deafness Conference, 2007." "+PvuII;+DdeI;+BspCNI;+AluI;+MspA1I;-BcgI;" "" "Homozygous" "Germline" "" "rs121965079" "0" "" "" "g.77156069C>T" "" "pathogenic" "" "0000380064" "10" "75" "11" "76871318" "76871318" "subst" "0" "02416" "MYO7A_000005" "g.76871318C>A" "1/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A397D} USMA-{MSV3dQ13402:p.Ala397Asp}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77160272C>A" "" "VUS" "ACMG" "0000380065" "20" "75" "11" "76871318" "76871318" "subst" "0" "02416" "MYO7A_000005" "g.76871318C>A" "1/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A397D} USMA-{MSV3dQ13402:p.Ala397Asp}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77160272C>A" "" "VUS" "ACMG" "0000380066" "10" "75" "11" "76871318" "76871318" "subst" "0" "02416" "MYO7A_000005" "g.76871318C>A" "1/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A397D} USMA-{MSV3dQ13402:p.Ala397Asp}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77160272C>A" "" "VUS" "ACMG" "0000380067" "20" "71" "11" "76871318" "76871318" "subst" "0" "02416" "MYO7A_000005" "g.76871318C>A" "1/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A397D} USMA-{MSV3dQ13402:p.Ala397Asp}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77160272C>A" "" "VUS" "ACMG" "0000380068" "0" "99" "11" "76868004" "76868004" "subst" "0" "02416" "MYO7A_000143" "g.76868004C>T" "0/200 controls" "{PMID:Di Leva 2006:16449806}; USMA-{USMAMYO7A:A230V} USMA-{MSV3dQ13402:p.Ala230Val}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156958C>T" "" "pathogenic" "" "0000380069" "2" "99" "11" "76868004" "76868004" "subst" "0" "02416" "MYO7A_000143" "g.76868004C>T" "0/200 controls" "{PMID:Di Leva 2006:16449806}; USMA-{USMAMYO7A:A230V} USMA-{MSV3dQ13402:p.Ala230Val}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156958C>T" "" "pathogenic" "" "0000380070" "2" "99" "11" "76868004" "76868004" "subst" "0" "02416" "MYO7A_000143" "g.76868004C>T" "0/200 controls" "{PMID:Di Leva 2006:16449806}; USMA-{USMAMYO7A:A230V} USMA-{MSV3dQ13402:p.Ala230Val}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156958C>T" "" "pathogenic" "" "0000380071" "1" "99" "11" "76868004" "76868004" "subst" "0" "02416" "MYO7A_000143" "g.76868004C>T" "0/200 controls" "{PMID:Di Leva 2006:16449806}; USMA-{USMAMYO7A:A230V} USMA-{MSV3dQ13402:p.Ala230Val}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156958C>T" "" "pathogenic" "" "0000380072" "1" "99" "11" "76868004" "76868004" "subst" "0" "02416" "MYO7A_000143" "g.76868004C>T" "0/200 controls" "{PMID:Di Leva 2006:16449806}; USMA-{USMAMYO7A:A230V} USMA-{MSV3dQ13402:p.Ala230Val}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156958C>T" "" "pathogenic" "" "0000380073" "1" "99" "11" "76868004" "76868004" "subst" "0" "02416" "MYO7A_000143" "g.76868004C>T" "0/200 controls" "{PMID:Di Leva 2006:16449806}; USMA-{USMAMYO7A:A230V} USMA-{MSV3dQ13402:p.Ala230Val}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156958C>T" "" "pathogenic" "" "0000380074" "1" "99" "11" "76868004" "76868004" "subst" "0" "02416" "MYO7A_000143" "g.76868004C>T" "0/200 controls" "{PMID:Di Leva 2006:16449806}; USMA-{USMAMYO7A:A230V} USMA-{MSV3dQ13402:p.Ala230Val}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156958C>T" "" "pathogenic" "" "0000380075" "1" "99" "11" "76868004" "76868004" "subst" "0" "02416" "MYO7A_000143" "g.76868004C>T" "0/200 controls" "{PMID:Di Leva 2006:16449806}; USMA-{USMAMYO7A:A230V} USMA-{MSV3dQ13402:p.Ala230Val}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156958C>T" "" "pathogenic" "" "0000380076" "1" "99" "11" "76868004" "76868004" "subst" "0" "02416" "MYO7A_000143" "g.76868004C>T" "0/200 controls" "{PMID:Di Leva 2006:16449806}; USMA-{USMAMYO7A:A230V} USMA-{MSV3dQ13402:p.Ala230Val}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156958C>T" "" "pathogenic" "" "0000380077" "1" "99" "11" "76868004" "76868004" "subst" "0" "02416" "MYO7A_000143" "g.76868004C>T" "0/200 controls" "{PMID:Di Leva 2006:16449806}; USMA-{USMAMYO7A:A230V} USMA-{MSV3dQ13402:p.Ala230Val}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156958C>T" "" "pathogenic" "" "0000380078" "1" "99" "11" "76868004" "76868004" "subst" "0" "02416" "MYO7A_000143" "g.76868004C>T" "0/200 controls" "{PMID:Di Leva 2006:16449806}; USMA-{USMAMYO7A:A230V} USMA-{MSV3dQ13402:p.Ala230Val}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156958C>T" "" "pathogenic" "" "0000380079" "10" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380080" "20" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380081" "10" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380082" "20" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380083" "10" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380084" "20" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380085" "10" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380086" "20" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380087" "10" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380088" "20" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380089" "10" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380090" "20" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380091" "10" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380092" "20" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380093" "10" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380094" "20" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380095" "10" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380096" "20" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380097" "10" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380098" "20" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380099" "10" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380100" "20" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380101" "10" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380102" "20" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380103" "10" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380104" "20" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380105" "10" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380106" "20" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380107" "10" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380108" "20" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380109" "10" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380110" "20" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380111" "10" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380112" "20" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02416" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Adato 1997:9382091}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380113" "0" "99" "11" "76891495" "76891503" "del" "0" "02416" "MYO7A_000145" "g.76891495_76891503del" "0/120 controls" "{PMID:Liu 1997(3):9354784}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77180449_77180457del" "" "pathogenic" "" "0000380114" "0" "99" "11" "76891495" "76891503" "del" "0" "02416" "MYO7A_000145" "g.76891495_76891503del" "0/120 controls" "{PMID:Liu 1997(3):9354784}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77180449_77180457del" "" "pathogenic" "" "0000380115" "0" "99" "11" "76891495" "76891503" "del" "0" "02416" "MYO7A_000145" "g.76891495_76891503del" "0/120 controls" "{PMID:Liu 1997(3):9354784}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77180449_77180457del" "" "pathogenic" "" "0000380116" "0" "99" "11" "76891495" "76891503" "del" "0" "02416" "MYO7A_000145" "g.76891495_76891503del" "0/120 controls" "{PMID:Liu 1997(3):9354784}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77180449_77180457del" "" "pathogenic" "" "0000380117" "0" "99" "11" "76891495" "76891503" "del" "0" "02416" "MYO7A_000145" "g.76891495_76891503del" "0/120 controls" "{PMID:Liu 1997(3):9354784}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77180449_77180457del" "" "pathogenic" "" "0000380118" "0" "99" "11" "76891495" "76891503" "del" "0" "02416" "MYO7A_000145" "g.76891495_76891503del" "0/120 controls" "{PMID:Liu 1997(3):9354784}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77180449_77180457del" "" "pathogenic" "" "0000380119" "0" "99" "11" "76891495" "76891503" "del" "0" "02416" "MYO7A_000145" "g.76891495_76891503del" "0/120 controls" "{PMID:Liu 1997(3):9354784}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77180449_77180457del" "" "pathogenic" "" "0000380120" "0" "99" "11" "76891495" "76891503" "del" "0" "02416" "MYO7A_000145" "g.76891495_76891503del" "0/120 controls" "{PMID:Liu 1997(3):9354784}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77180449_77180457del" "" "pathogenic" "" "0000380121" "10" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000380122" "20" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000380123" "10" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000380124" "20" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000380125" "10" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000380126" "20" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000380127" "10" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000380128" "20" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000380129" "10" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000380130" "20" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000380131" "10" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000380132" "20" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000380133" "10" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000380134" "20" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000380135" "10" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000380136" "20" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000380137" "10" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000380138" "20" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000380139" "10" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000380140" "20" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000380141" "10" "99" "11" "76867955" "76867955" "subst" "0.00000406134" "02416" "MYO7A_000118" "g.76867955G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:G214R} USMA-{MSV3dQ13402:p.Gly214Arg}" "none" "" "Homozygous" "Germline" "" "rs111033283" "0" "" "" "g.77156909G>A" "" "pathogenic" "" "0000380142" "20" "99" "11" "76867955" "76867955" "subst" "0.00000406134" "02416" "MYO7A_000118" "g.76867955G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:G214R} USMA-{MSV3dQ13402:p.Gly214Arg}" "none" "" "Homozygous" "Germline" "" "rs111033283" "0" "" "" "g.77156909G>A" "" "pathogenic" "" "0000380143" "2" "75" "11" "76890889" "76890889" "subst" "0.00123187" "02416" "MYO7A_000013" "g.76890889G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:A826T} USMA-{MSV3dQ13402:p.Ala826Thr}" "-BstUI;-HinP1I;-HhaI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77179843G>A" "" "VUS" "ACMG" "0000380144" "1" "75" "11" "76867955" "76867955" "subst" "0.00000406134" "02416" "MYO7A_000118" "g.76867955G>A" "0/200 controls" "{PMID:Adato 1997:9382091}; USMA-{USMAMYO7A:G214R} USMA-{MSV3dQ13402:p.Gly214Arg}" "none" "" "Heterozygous" "Germline" "" "rs111033283" "0" "" "" "g.77156909G>A" "" "pathogenic" "" "0000380145" "10" "99" "11" "76922341" "76922341" "del" "0" "02416" "MYO7A_000146" "g.76922341del" "" "{PMID:Adato 1997:9382091}" "" "6193delC" "Homozygous" "Germline" "" "" "0" "" "" "g.77211296del" "" "pathogenic" "" "0000380146" "20" "99" "11" "76922341" "76922341" "del" "0" "02416" "MYO7A_000146" "g.76922341del" "" "{PMID:Adato 1997:9382091}" "" "6193delC" "Homozygous" "Germline" "" "" "0" "" "" "g.77211296del" "" "pathogenic" "" "0000380147" "10" "99" "11" "76922341" "76922341" "del" "0" "02416" "MYO7A_000146" "g.76922341del" "" "{PMID:Adato 1997:9382091}" "" "6193delC" "Homozygous" "Germline" "" "" "0" "" "" "g.77211296del" "" "pathogenic" "" "0000380148" "20" "99" "11" "76922341" "76922341" "del" "0" "02416" "MYO7A_000146" "g.76922341del" "" "{PMID:Adato 1997:9382091}" "" "6193delC" "Homozygous" "Germline" "" "" "0" "" "" "g.77211296del" "" "pathogenic" "" "0000380149" "10" "99" "11" "76922341" "76922341" "del" "0" "02416" "MYO7A_000146" "g.76922341del" "" "{PMID:Adato 1997:9382091}" "" "6193delC" "Homozygous" "Germline" "" "" "0" "" "" "g.77211296del" "" "pathogenic" "" "0000380150" "20" "99" "11" "76922341" "76922341" "del" "0" "02416" "MYO7A_000146" "g.76922341del" "" "{PMID:Adato 1997:9382091}" "" "6193delC" "Homozygous" "Germline" "" "" "0" "" "" "g.77211296del" "" "pathogenic" "" "0000380151" "10" "95" "11" "76874034" "76874034" "subst" "0" "02416" "MYO7A_000147" "g.76874034G>A" "0/226 controls" "{PMID:Boulouiz 2007:17960123}; USMA-{USMAMYO7A:G564S} USMA-{MSV3dQ13402:p.Gly564Ser}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77162988G>A" "" "likely pathogenic" "ACMG" "0000380152" "10" "11" "11" "76913457" "76913457" "subst" "0.0161284" "02416" "MYO7A_000081" "g.76913457A>G" "15/226 controls" "{PMID:Boulouiz 2007:17960123}; USMA-{USMAMYO7A:Y1719C} USMA-{MSV3dQ13402:p.Tyr1719Cys}" "+Tsp45I" "" "Homozygous" "Germline" "" "rs77625410" "0" "" "" "g.77202412A>G" "" "benign" "" "0000380153" "20" "11" "11" "76913457" "76913457" "subst" "0.0161284" "02416" "MYO7A_000081" "g.76913457A>G" "15/226 controls" "{PMID:Boulouiz 2007:17960123}; USMA-{USMAMYO7A:Y1719C} USMA-{MSV3dQ13402:p.Tyr1719Cys}" "+Tsp45I" "" "Homozygous" "Germline" "" "rs77625410" "0" "" "" "g.77202412A>G" "" "benign" "" "0000380154" "20" "95" "11" "76874034" "76874034" "subst" "0" "02416" "MYO7A_000147" "g.76874034G>A" "0/226 controls" "{PMID:Boulouiz 2007:17960123}; USMA-{USMAMYO7A:G564S} USMA-{MSV3dQ13402:p.Gly564Ser}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77162988G>A" "" "likely pathogenic" "ACMG" "0000380155" "10" "95" "11" "76874034" "76874034" "subst" "0" "02416" "MYO7A_000147" "g.76874034G>A" "0/226 controls" "{PMID:Boulouiz 2007:17960123}; USMA-{USMAMYO7A:G564S} USMA-{MSV3dQ13402:p.Gly564Ser}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77162988G>A" "" "likely pathogenic" "ACMG" "0000380156" "10" "11" "11" "76913457" "76913457" "subst" "0.0161284" "02416" "MYO7A_000081" "g.76913457A>G" "15/226 controls" "{PMID:Boulouiz 2007:17960123}; USMA-{USMAMYO7A:Y1719C} USMA-{MSV3dQ13402:p.Tyr1719Cys}" "+Tsp45I" "" "Homozygous" "Germline" "" "rs77625410" "0" "" "" "g.77202412A>G" "" "benign" "" "0000380157" "20" "11" "11" "76913457" "76913457" "subst" "0.0161284" "02416" "MYO7A_000081" "g.76913457A>G" "15/226 controls" "{PMID:Boulouiz 2007:17960123}; USMA-{USMAMYO7A:Y1719C} USMA-{MSV3dQ13402:p.Tyr1719Cys}" "+Tsp45I" "" "Homozygous" "Germline" "" "rs77625410" "0" "" "" "g.77202412A>G" "" "benign" "" "0000380158" "20" "95" "11" "76874034" "76874034" "subst" "0" "02416" "MYO7A_000147" "g.76874034G>A" "0/226 controls" "{PMID:Boulouiz 2007:17960123}; USMA-{USMAMYO7A:G564S} USMA-{MSV3dQ13402:p.Gly564Ser}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77162988G>A" "" "likely pathogenic" "ACMG" "0000380159" "0" "99" "11" "76853829" "76853829" "subst" "0.0000375447" "02418" "MYO7A_000012" "g.76853829C>A" "" "{PMID:Weston 1996:8900236}" "+Hpy188I;+BsmAI;+DdeI;+BspCNI;" "" "Heterozygous" "Germline" "" "rs35689081" "0" "" "" "g.77142783C>A" "" "pathogenic" "" "0000380160" "0" "99" "11" "76867028" "76867028" "del" "0" "02418" "MYO7A_000148" "g.76867028del" "" "{PMID:Weston 1996:8900236}" "" "360delC" "Heterozygous" "Germline" "" "" "0" "" "" "g.77155982del" "" "pathogenic" "" "0000380161" "0" "99" "11" "76867949" "76867949" "subst" "0" "02418" "MYO7A_000002" "g.76867949C>T" "0/192 controls" "{PMID:Weston 1996:8900236}; USMA-{USMAMYO7A:R212C} USMA-{MSV3dQ13402:p.Arg212Cys}" "" "" "Heterozygous" "Germline" "" "rs121965080" "0" "" "" "g.77156903C>T" "" "pathogenic" "" "0000380162" "0" "35" "11" "76869378" "76869378" "subst" "0.00261705" "02418" "MYO7A_000003" "g.76869378G>A" "0/192 controls" "{PMID:Weston 1996:8900236}; USMA-{USMAMYO7A:R302H} USMA-{MSV3dQ13402:p.Arg302His}" "-BsrBI;-AciI;" "" "Heterozygous" "Germline" "" "rs41298135" "0" "" "" "g.77158332G>A" "" "likely benign" "ACMG" "0000380163" "1" "99" "11" "76867949" "76867949" "subst" "0" "02418" "MYO7A_000002" "g.76867949C>T" "0/192 controls" "{PMID:Weston 1996:8900236}; USMA-{USMAMYO7A:R212C} USMA-{MSV3dQ13402:p.Arg212Cys}" "" "" "Heterozygous" "Germline" "" "rs121965080" "0" "" "" "g.77156903C>T" "" "pathogenic" "" "0000380164" "1" "35" "11" "76869378" "76869378" "subst" "0.00261705" "02418" "MYO7A_000003" "g.76869378G>A" "0/192 controls" "{PMID:Weston 1996:8900236}; USMA-{USMAMYO7A:R302H} USMA-{MSV3dQ13402:p.Arg302His}" "-BsrBI;-AciI;" "" "Heterozygous" "Germline" "" "rs41298135" "0" "" "" "g.77158332G>A" "" "likely benign" "ACMG" "0000380165" "1" "99" "11" "76900393" "76900393" "subst" "0.0000162752" "02416" "MYO7A_000023" "g.76900393G>A" "" "{PMID:Pennings 2006:16652077}; USMA-{USMAMYO7A:E1170K} USMA-{MSV3dQ13402:p.Glu1170Lys}" "none" "" "Heterozygous" "Germline" "" "rs111033214" "0" "" "" "g.77189348G>A" "" "pathogenic" "" "0000380166" "2" "99" "11" "76901153" "76901153" "subst" "0.0000764877" "02416" "MYO7A_000033" "g.76901153G>A" "" "{PMID:Pennings 2006:16652077}; USMA-{USMAMYO7A:R1240Q} USMA-{MSV3dQ13402:p.Arg1240Gln}" "none" "" "Heterozygous" "Germline" "" "rs111033178" "0" "" "" "g.77190108G>A" "" "pathogenic" "" "0000380167" "1" "15" "11" "76910816" "76910816" "subst" "0.00356672" "02416" "MYO7A_000149" "g.76910816G>A" "" "{PMID:Pennings 2006:16652077}; USMA-{USMAMYO7A:R1602Q} USMA-{MSV3dQ13402:p.Arg1602Gln}" "" "" "Heterozygous" "Germline" "" "rs139889944" "0" "" "" "g.77199771G>A" "" "likely benign" "ACMG" "0000380168" "1" "99" "11" "76900393" "76900393" "subst" "0.0000162752" "02416" "MYO7A_000023" "g.76900393G>A" "" "{PMID:Pennings 2006:16652077}; USMA-{USMAMYO7A:E1170K} USMA-{MSV3dQ13402:p.Glu1170Lys}" "none" "" "Heterozygous" "Germline" "" "rs111033214" "0" "" "" "g.77189348G>A" "" "pathogenic" "" "0000380169" "2" "99" "11" "76901153" "76901153" "subst" "0.0000764877" "02416" "MYO7A_000033" "g.76901153G>A" "" "{PMID:Pennings 2006:16652077}; USMA-{USMAMYO7A:R1240Q} USMA-{MSV3dQ13402:p.Arg1240Gln}" "none" "" "Heterozygous" "Germline" "" "rs111033178" "0" "" "" "g.77190108G>A" "" "pathogenic" "" "0000380170" "1" "15" "11" "76910816" "76910816" "subst" "0.00356672" "02416" "MYO7A_000149" "g.76910816G>A" "" "{PMID:Pennings 2006:16652077}; USMA-{USMAMYO7A:R1602Q} USMA-{MSV3dQ13402:p.Arg1602Gln}" "" "" "Heterozygous" "Germline" "" "rs139889944" "0" "" "" "g.77199771G>A" "" "likely benign" "ACMG" "0000380171" "1" "99" "11" "76901153" "76901153" "subst" "0.0000764877" "02416" "MYO7A_000033" "g.76901153G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R1240Q} USMA-{MSV3dQ13402:p.Arg1240Gln}" "none" "" "Heterozygous" "Germline" "" "rs111033178" "0" "" "" "g.77190108G>A" "" "pathogenic" "" "0000380172" "2" "99" "11" "76867949" "76867949" "subst" "0" "02416" "MYO7A_000002" "g.76867949C>T" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R212C} USMA-{MSV3dQ13402:p.Arg212Cys}" "" "" "Heterozygous" "Germline" "" "rs121965080" "0" "" "" "g.77156903C>T" "" "pathogenic" "" "0000380173" "1" "99" "11" "76901153" "76901153" "subst" "0.0000764877" "02416" "MYO7A_000033" "g.76901153G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R1240Q} USMA-{MSV3dQ13402:p.Arg1240Gln}" "none" "" "Heterozygous" "Germline" "" "rs111033178" "0" "" "" "g.77190108G>A" "" "pathogenic" "" "0000380174" "2" "99" "11" "76867949" "76867949" "subst" "0" "02416" "MYO7A_000002" "g.76867949C>T" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R212C} USMA-{MSV3dQ13402:p.Arg212Cys}" "" "" "Heterozygous" "Germline" "" "rs121965080" "0" "" "" "g.77156903C>T" "" "pathogenic" "" "0000380175" "1" "99" "11" "76901153" "76901153" "subst" "0.0000764877" "02416" "MYO7A_000033" "g.76901153G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R1240Q} USMA-{MSV3dQ13402:p.Arg1240Gln}" "none" "" "Heterozygous" "Germline" "" "rs111033178" "0" "" "" "g.77190108G>A" "" "pathogenic" "" "0000380176" "2" "99" "11" "76867949" "76867949" "subst" "0" "02416" "MYO7A_000002" "g.76867949C>T" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R212C} USMA-{MSV3dQ13402:p.Arg212Cys}" "" "" "Heterozygous" "Germline" "" "rs121965080" "0" "" "" "g.77156903C>T" "" "pathogenic" "" "0000380177" "0" "99" "11" "76900393" "76900393" "subst" "0.0000162752" "02416" "MYO7A_000023" "g.76900393G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:E1170K} USMA-{MSV3dQ13402:p.Glu1170Lys}" "none" "" "Heterozygous" "Germline" "" "rs111033214" "0" "" "" "g.77189348G>A" "" "pathogenic" "" "0000380178" "10" "99" "11" "76901153" "76901153" "subst" "0.0000764877" "02416" "MYO7A_000033" "g.76901153G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R1240Q} USMA-{MSV3dQ13402:p.Arg1240Gln}" "none" "" "Homozygous" "Germline" "" "rs111033178" "0" "" "" "g.77190108G>A" "" "pathogenic" "" "0000380179" "20" "99" "11" "76901153" "76901153" "subst" "0.0000764877" "02416" "MYO7A_000033" "g.76901153G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R1240Q} USMA-{MSV3dQ13402:p.Arg1240Gln}" "none" "" "Homozygous" "Germline" "" "rs111033178" "0" "" "" "g.77190108G>A" "" "pathogenic" "" "0000380180" "10" "99" "11" "76914163" "76914163" "subst" "0.0018532" "02416" "MYO7A_000150" "g.76914163C>T" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R1743W} USMA-{MSV3dQ13402:p.Arg1743Trp}" "+BsrI;-MspI;-HpaII;-Sau96I;-AvaII;-BsrFI;" "" "Homozygous" "Germline" "" "rs111033287" "0" "" "" "g.77203118C>T" "" "likely benign" "ACMG" "0000380181" "20" "99" "11" "76914163" "76914163" "subst" "0.0018532" "02416" "MYO7A_000150" "g.76914163C>T" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R1743W} USMA-{MSV3dQ13402:p.Arg1743Trp}" "+BsrI;-MspI;-HpaII;-Sau96I;-AvaII;-BsrFI;" "" "Homozygous" "Germline" "" "rs111033287" "0" "" "" "g.77203118C>T" "" "likely benign" "ACMG" "0000380182" "10" "99" "11" "76914163" "76914163" "subst" "0.0018532" "02416" "MYO7A_000150" "g.76914163C>T" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R1743W} USMA-{MSV3dQ13402:p.Arg1743Trp}" "+BsrI;-MspI;-HpaII;-Sau96I;-AvaII;-BsrFI;" "" "Homozygous" "Germline" "" "rs111033287" "0" "" "" "g.77203118C>T" "" "likely benign" "ACMG" "0000380183" "20" "99" "11" "76914163" "76914163" "subst" "0.0018532" "02416" "MYO7A_000150" "g.76914163C>T" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R1743W} USMA-{MSV3dQ13402:p.Arg1743Trp}" "+BsrI;-MspI;-HpaII;-Sau96I;-AvaII;-BsrFI;" "" "Homozygous" "Germline" "" "rs111033287" "0" "" "" "g.77203118C>T" "" "likely benign" "ACMG" "0000380184" "10" "99" "11" "76867950" "76867950" "subst" "0.0000121841" "02416" "MYO7A_000004" "g.76867950G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R212H} USMA-{MSV3dQ13402:p.Arg212His}" "-BceAI" "" "Homozygous" "Germline" "" "rs28934610" "0" "" "" "g.77156904G>A" "" "pathogenic" "" "0000380185" "20" "99" "11" "76867950" "76867950" "subst" "0.0000121841" "02416" "MYO7A_000004" "g.76867950G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R212H} USMA-{MSV3dQ13402:p.Arg212His}" "-BceAI" "" "Homozygous" "Germline" "" "rs28934610" "0" "" "" "g.77156904G>A" "" "pathogenic" "" "0000380186" "10" "99" "11" "76867950" "76867950" "subst" "0.0000121841" "02416" "MYO7A_000004" "g.76867950G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R212H} USMA-{MSV3dQ13402:p.Arg212His}" "-BceAI" "" "Homozygous" "Germline" "" "rs28934610" "0" "" "" "g.77156904G>A" "" "pathogenic" "" "0000380187" "20" "99" "11" "76867950" "76867950" "subst" "0.0000121841" "02416" "MYO7A_000004" "g.76867950G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R212H} USMA-{MSV3dQ13402:p.Arg212His}" "-BceAI" "" "Homozygous" "Germline" "" "rs28934610" "0" "" "" "g.77156904G>A" "" "pathogenic" "" "0000380188" "1" "99" "11" "76900393" "76900393" "subst" "0.0000162752" "02416" "MYO7A_000023" "g.76900393G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:E1170K} USMA-{MSV3dQ13402:p.Glu1170Lys}" "none" "" "Heterozygous" "Germline" "" "rs111033214" "0" "" "" "g.77189348G>A" "" "pathogenic" "" "0000380189" "2" "99" "11" "76901153" "76901153" "subst" "0.0000764877" "02416" "MYO7A_000033" "g.76901153G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R1240Q} USMA-{MSV3dQ13402:p.Arg1240Gln}" "none" "" "Heterozygous" "Germline" "" "rs111033178" "0" "" "" "g.77190108G>A" "" "pathogenic" "" "0000380190" "1" "15" "11" "76910816" "76910816" "subst" "0.00356672" "02416" "MYO7A_000149" "g.76910816G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R1602Q} USMA-{MSV3dQ13402:p.Arg1602Gln}" "" "" "Heterozygous" "Germline" "" "rs139889944" "0" "" "" "g.77199771G>A" "" "likely benign" "ACMG" "0000380191" "10" "99" "11" "76900393" "76900393" "subst" "0.0000162752" "02416" "MYO7A_000023" "g.76900393G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:E1170K} USMA-{MSV3dQ13402:p.Glu1170Lys}" "none" "" "Homozygous" "Germline" "" "rs111033214" "0" "" "" "g.77189348G>A" "" "pathogenic" "" "0000380192" "20" "99" "11" "76900393" "76900393" "subst" "0.0000162752" "02416" "MYO7A_000023" "g.76900393G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:E1170K} USMA-{MSV3dQ13402:p.Glu1170Lys}" "none" "" "Homozygous" "Germline" "" "rs111033214" "0" "" "" "g.77189348G>A" "" "pathogenic" "" "0000380193" "1" "99" "11" "76900393" "76900393" "subst" "0.0000162752" "02416" "MYO7A_000023" "g.76900393G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:E1170K} USMA-{MSV3dQ13402:p.Glu1170Lys}" "none" "" "Heterozygous" "Germline" "" "rs111033214" "0" "" "" "g.77189348G>A" "" "pathogenic" "" "0000380194" "2" "99" "11" "76867950" "76867950" "subst" "0.0000121841" "02416" "MYO7A_000004" "g.76867950G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R212H} USMA-{MSV3dQ13402:p.Arg212His}" "-BceAI" "" "Heterozygous" "Germline" "" "rs28934610" "0" "" "" "g.77156904G>A" "" "pathogenic" "" "0000380195" "1" "15" "11" "76910816" "76910816" "subst" "0.00356672" "02416" "MYO7A_000149" "g.76910816G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R1602Q} USMA-{MSV3dQ13402:p.Arg1602Gln}" "" "" "Heterozygous" "Germline" "" "rs139889944" "0" "" "" "g.77199771G>A" "" "likely benign" "ACMG" "0000380196" "1" "99" "11" "76900393" "76900393" "subst" "0.0000162752" "02416" "MYO7A_000023" "g.76900393G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:E1170K} USMA-{MSV3dQ13402:p.Glu1170Lys}" "none" "" "Heterozygous" "Germline" "" "rs111033214" "0" "" "" "g.77189348G>A" "" "pathogenic" "" "0000380197" "2" "99" "11" "76867950" "76867950" "subst" "0.0000121841" "02416" "MYO7A_000004" "g.76867950G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R212H} USMA-{MSV3dQ13402:p.Arg212His}" "-BceAI" "" "Heterozygous" "Germline" "" "rs28934610" "0" "" "" "g.77156904G>A" "" "pathogenic" "" "0000380198" "1" "15" "11" "76910816" "76910816" "subst" "0.00356672" "02416" "MYO7A_000149" "g.76910816G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R1602Q} USMA-{MSV3dQ13402:p.Arg1602Gln}" "" "" "Heterozygous" "Germline" "" "rs139889944" "0" "" "" "g.77199771G>A" "" "likely benign" "ACMG" "0000380199" "0" "99" "11" "76901153" "76901153" "subst" "0.0000764877" "02416" "MYO7A_000033" "g.76901153G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R1240Q} USMA-{MSV3dQ13402:p.Arg1240Gln}" "none" "" "Heterozygous" "Germline" "" "rs111033178" "0" "" "" "g.77190108G>A" "" "pathogenic" "" "0000380200" "2" "99" "11" "76915186" "76915186" "subst" "0.0000318599" "02416" "MYO7A_000028" "g.76915186C>T" "" "{PMID:Pennings 2004:15043528}" "+BfaI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77204141C>T" "" "pathogenic" "" "0000380201" "1" "99" "11" "76915205" "76915205" "del" "0" "02416" "MYO7A_000151" "g.76915205del" "" "{PMID:Pennings 2004:15043528}" "" "5411delT" "Heterozygous" "Germline" "" "" "0" "" "" "g.77204160del" "" "pathogenic" "" "0000380202" "0" "75" "11" "76901152" "76901152" "subst" "0" "02416" "MYO7A_000152" "g.76901152C>T" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R1240W} USMA-{MSV3dQ13402:p.Arg1240Trp}" "+FatI;+NlaIII;+CviAII;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77190107C>T" "" "VUS" "ACMG" "0000380203" "1" "99" "11" "76915186" "76915186" "subst" "0.0000318599" "02416" "MYO7A_000028" "g.76915186C>T" "" "{PMID:Pennings 2004:15043528}" "+BfaI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77204141C>T" "" "pathogenic" "" "0000380204" "2" "99" "11" "76867025" "76867025" "del" "0" "02416" "MYO7A_000153" "g.76867025del" "" "{PMID:Pennings 2004:15043528}" "" "358delC" "Heterozygous" "Germline" "" "" "0" "" "" "g.77155979del" "" "pathogenic" "" "0000380205" "1" "99" "11" "76915186" "76915186" "subst" "0.0000318599" "02416" "MYO7A_000028" "g.76915186C>T" "" "{PMID:Pennings 2004:15043528}" "+BfaI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77204141C>T" "" "pathogenic" "" "0000380206" "2" "99" "11" "76867025" "76867025" "del" "0" "02416" "MYO7A_000153" "g.76867025del" "" "{PMID:Pennings 2004:15043528}" "" "358delC" "Heterozygous" "Germline" "" "" "0" "" "" "g.77155979del" "" "pathogenic" "" "0000380207" "2" "35" "11" "76869378" "76869378" "subst" "0.00261705" "02416" "MYO7A_000003" "g.76869378G>A" "" "{PMID:Pennings 2004:15043528}; USMA-{USMAMYO7A:R302H} USMA-{MSV3dQ13402:p.Arg302His}" "-BsrBI;-AciI;" "" "Heterozygous" "Germline" "" "rs41298135" "0" "" "" "g.77158332G>A" "" "likely benign" "ACMG" "0000380208" "1" "99" "11" "76885862" "76885862" "subst" "0.0000164008" "02416" "MYO7A_000154" "g.76885862C>T" "" "{PMID:Pennings 2004:15043528}" "-BtsCI;-FokI;" "" "Heterozygous" "Germline" "" "rs121965085" "0" "" "" "g.77174816C>T" "" "pathogenic" "" "0000380209" "0" "11" "11" "76919478" "76919478" "subst" "0.474337" "02416" "MYO7A_000053" "g.76919478C>A" "" "{PMID:Luijendijk 2004:15221449}; USMA-{USMAMYO7A:L1954I} USMA-{MSV3dQ13402:p.Leu1954Ile}" "-Bpu10I;-MnlI;-BspCNI;-AvaII;-EcoO109I;-PpuMI;" "" "Heterozygous" "Germline" "" "rs948962" "0" "" "" "g.77208433C>A" "" "benign" "" "0000380210" "0" "95" "11" "76873195" "76873195" "subst" "0" "02416" "MYO7A_000155" "g.76873195A>T" "0/600 controls" "{PMID:Luijendijk 2004:15221449}; USMA-{USMAMYO7A:N458I} USMA-{MSV3dQ13402:p.Asn458Ile}" "" "" "Heterozygous; mutation" "Germline" "" "rs121965084" "0" "" "" "g.77162149A>T" "" "likely pathogenic" "ACMG" "0000380211" "0" "11" "11" "76868372" "76868372" "subst" "0.388729" "02416" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Luijendijk 2004:15221449}" "+FatI;+NlaIII;+CviAII;" "" "Heterozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000380212" "0" "15" "11" "76870496" "76870496" "subst" "0.00114075" "02416" "MYO7A_000186" "g.76870496G>A" "" "{PMID:Luijendijk 2004:15221449}; USMA-{USMAMYO7A:R336H} USMA-{MSV3dQ13402:p.Arg336His}" "" "" "Heterozygous; polymorphism" "Germline" "" "rs45629132" "0" "" "" "g.77159450G>A" "" "likely benign" "ACMG" "0000380213" "0" "11" "11" "76895772" "76895793" "del" "0" "02416" "MYO7A_000289" "g.76895772_76895793del" "" "{PMID:Luijendijk 2004:15221449}" "" "3503+11_3503+32del22" "Heterozygous" "Germline" "" "" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000380214" "0" "11" "11" "76901927" "76901927" "subst" "0.517928" "02416" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Luijendijk 2004:15221449}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Heterozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000380215" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02416" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Luijendijk 2004:15221449}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000380216" "0" "11" "11" "76912636" "76912636" "subst" "0.550278" "02416" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Luijendijk 2004:15221449}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Heterozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000380217" "0" "11" "11" "76917220" "76917220" "subst" "0.516665" "02416" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Luijendijk 2004:15221449}" "none" "" "Heterozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000380218" "10" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Luijendijk 2004:15221449}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000380219" "20" "11" "11" "76918322" "76918322" "subst" "0.589554" "02416" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Luijendijk 2004:15221449}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000380220" "0" "11" "11" "76919468" "76919468" "subst" "0.562382" "02416" "MYO7A_000052" "g.76919468A>T" "" "{PMID:Luijendijk 2004:15221449}" "+BsmFI;-AhdI;" "" "Heterozygous" "Germline" "" "rs1320703" "0" "" "" "g.77208423A>T" "" "benign" "" "0000380221" "0" "95" "11" "76873195" "76873195" "subst" "0" "02416" "MYO7A_000155" "g.76873195A>T" "0/600 controls" "{PMID:Luijendijk 2004:15221449}; USMA-{USMAMYO7A:N458I} USMA-{MSV3dQ13402:p.Asn458Ile}" "" "" "Heterozygous" "Germline" "" "rs121965084" "0" "" "" "g.77162149A>T" "" "likely pathogenic" "ACMG" "0000380222" "2" "95" "11" "76873195" "76873195" "subst" "0" "02416" "MYO7A_000155" "g.76873195A>T" "0/600 controls" "{PMID:Luijendijk 2004:15221449}; USMA-{USMAMYO7A:N458I} USMA-{MSV3dQ13402:p.Asn458Ile}" "" "" "Heterozygous" "Germline" "" "rs121965084" "0" "" "" "g.77162149A>T" "" "likely pathogenic" "ACMG" "0000380223" "2" "95" "11" "76873195" "76873195" "subst" "0" "02416" "MYO7A_000155" "g.76873195A>T" "0/600 controls" "{PMID:Luijendijk 2004:15221449}; USMA-{USMAMYO7A:N458I} USMA-{MSV3dQ13402:p.Asn458Ile}" "" "" "Heterozygous" "Germline" "" "rs121965084" "0" "" "" "g.77162149A>T" "" "likely pathogenic" "ACMG" "0000380224" "2" "95" "11" "76873195" "76873195" "subst" "0" "02416" "MYO7A_000155" "g.76873195A>T" "0/600 controls" "{PMID:Luijendijk 2004:15221449}; USMA-{USMAMYO7A:N458I} USMA-{MSV3dQ13402:p.Asn458Ile}" "" "" "Heterozygous" "Germline" "" "rs121965084" "0" "" "" "g.77162149A>T" "" "likely pathogenic" "ACMG" "0000380225" "1" "95" "11" "76873195" "76873195" "subst" "0" "02416" "MYO7A_000155" "g.76873195A>T" "0/600 controls" "{PMID:Luijendijk 2004:15221449}; USMA-{USMAMYO7A:N458I} USMA-{MSV3dQ13402:p.Asn458Ile}" "" "" "Heterozygous" "Germline" "" "rs121965084" "0" "" "" "g.77162149A>T" "" "likely pathogenic" "ACMG" "0000380226" "1" "95" "11" "76873195" "76873195" "subst" "0" "02416" "MYO7A_000155" "g.76873195A>T" "0/600 controls" "{PMID:Luijendijk 2004:15221449}; USMA-{USMAMYO7A:N458I} USMA-{MSV3dQ13402:p.Asn458Ile}" "" "" "Heterozygous" "Germline" "" "rs121965084" "0" "" "" "g.77162149A>T" "" "likely pathogenic" "ACMG" "0000380227" "1" "95" "11" "76873195" "76873195" "subst" "0" "02416" "MYO7A_000155" "g.76873195A>T" "0/600 controls" "{PMID:Luijendijk 2004:15221449}; USMA-{USMAMYO7A:N458I} USMA-{MSV3dQ13402:p.Asn458Ile}" "" "" "Heterozygous" "Germline" "" "rs121965084" "0" "" "" "g.77162149A>T" "" "likely pathogenic" "ACMG" "0000380228" "1" "99" "11" "76873195" "76873195" "subst" "0" "02416" "MYO7A_000155" "g.76873195A>T" "0/600 controls" "{PMID:Luijendijk 2004:15221449}; USMA-{USMAMYO7A:N458I} USMA-{MSV3dQ13402:p.Asn458Ile}" "" "" "Heterozygous" "Germline" "" "rs121965084" "0" "" "" "g.77162149A>T" "" "likely pathogenic" "ACMG" "0000380229" "0" "99" "11" "76886511" "76886511" "subst" "0.0000162674" "02416" "MYO7A_000156" "g.76886511G>A" "" "{PMID:Adato 1997:9382091}" "" "" "Heterozygous" "Germline" "" "rs111033290" "0" "" "" "g.77175465G>A" "" "pathogenic" "" "0000380230" "0" "99" "11" "76886511" "76886511" "subst" "0.0000162674" "02416" "MYO7A_000156" "g.76886511G>A" "" "{PMID:Adato 1997:9382091}" "" "" "Heterozygous" "Germline" "" "rs111033290" "0" "" "" "g.77175465G>A" "" "pathogenic" "" "0000380231" "0" "99" "11" "76886511" "76886511" "subst" "0.0000162674" "02416" "MYO7A_000156" "g.76886511G>A" "" "{PMID:Adato 1997:9382091}" "" "" "Heterozygous" "Germline" "" "rs111033290" "0" "" "" "g.77175465G>A" "" "pathogenic" "" "0000380232" "0" "99" "11" "76886511" "76886511" "subst" "0.0000162674" "02416" "MYO7A_000156" "g.76886511G>A" "" "{PMID:Adato 1997:9382091}" "" "" "Heterozygous" "Germline" "" "rs111033290" "0" "" "" "g.77175465G>A" "" "pathogenic" "" "0000380233" "0" "75" "11" "76867991" "76867991" "subst" "0.000219373" "02416" "MYO7A_000157" "g.76867991G>A" "" "Mena et al., poster:2263 from the 2000 ASHG Annual Meeting; USMA-{USMAMYO7A:A226T} USMA-{MSV3dQ13402:p.Ala226Thr}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156945G>A" "" "VUS" "ACMG" "0000380234" "0" "99" "11" "76853769" "76853769" "subst" "0" "02418" "MYO7A_000158" "g.76853769G>A" "" "{PMID:Weston 1996:8900236}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77142723G>A" "" "pathogenic" "" "0000380235" "0" "35" "11" "76869378" "76869378" "subst" "0.00261705" "02418" "MYO7A_000003" "g.76869378G>A" "0/192 controls" "{PMID:Weston 1996:8900236}; USMA-{USMAMYO7A:R302H} USMA-{MSV3dQ13402:p.Arg302His}" "-BsrBI;-AciI;" "" "Heterozygous" "Germline" "" "rs41298135" "0" "" "" "g.77158332G>A" "" "likely benign" "ACMG" "0000380236" "2" "11" "11" "76913457" "76913457" "subst" "0.0161284" "02417" "MYO7A_000081" "g.76913457A>G" "0/68 controls" "{PMID:Cuevas 1999:10425080}; USMA-{USMAMYO7A:Y1719C} USMA-{MSV3dQ13402:p.Tyr1719Cys}" "+Tsp45I" "" "Heterozygous" "Germline" "" "rs77625410" "0" "" "" "g.77202412A>G" "" "benign" "" "0000380237" "1" "11" "11" "76913457" "76913457" "subst" "0.0161284" "02417" "MYO7A_000081" "g.76913457A>G" "0/68 controls" "{PMID:Cuevas 1999:10425080}; USMA-{USMAMYO7A:Y1719C} USMA-{MSV3dQ13402:p.Tyr1719Cys}" "+Tsp45I" "" "Heterozygous" "Germline" "" "rs77625410" "0" "" "" "g.77202412A>G" "" "benign" "" "0000380238" "1" "11" "11" "76913457" "76913457" "subst" "0.0161284" "02417" "MYO7A_000081" "g.76913457A>G" "0/68 controls" "{PMID:Cuevas 1999:10425080}; USMA-{USMAMYO7A:Y1719C} USMA-{MSV3dQ13402:p.Tyr1719Cys}" "+Tsp45I" "" "Heterozygous" "Germline" "" "rs77625410" "0" "" "" "g.77202412A>G" "" "benign" "" "0000380239" "0" "11" "11" "76910708" "76910708" "subst" "0.00501209" "02417" "MYO7A_000082" "g.76910708C>T" "0/200 controls" "{PMID:Najera 2002:12112664}; USMA-{USMAMYO7A:T1566M} USMA-{MSV3dQ13402:p.Thr1566Met}" "" "" "Heterozygous" "Germline" "" "rs41298747" "0" "" "" "g.77199663C>T" "" "benign" "" "0000380240" "0" "99" "11" "76919822" "76919822" "del" "0" "02417" "MYO7A_000104" "g.76919822del" "" "{PMID:Najera 2002:12112664}" "-EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI;" "6025delG" "Heterozygous" "Germline" "" "" "0" "" "" "g.77208777del" "" "pathogenic" "" "0000380241" "2" "11" "11" "76913457" "76913457" "subst" "0.0161284" "02417" "MYO7A_000081" "g.76913457A>G" "" "{PMID:Jaijo 2006:16470552}; USMA-{USMAMYO7A:Y1719C} USMA-{MSV3dQ13402:p.Tyr1719Cys}" "+Tsp45I" "" "Heterozygous" "Germline" "" "rs77625410" "0" "" "" "g.77202412A>G" "" "benign" "" "0000380242" "10" "11" "11" "76853783" "76853783" "subst" "0.392567" "02417" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Najera 2002:12112664}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000380243" "10" "99" "11" "76890874" "76890874" "subst" "0" "02417" "MYO7A_000159" "g.76890874C>T" "" "{PMID:Najera 2002:12112664}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179828C>T" "" "pathogenic" "" "0000380244" "20" "99" "11" "76890874" "76890874" "subst" "0" "02417" "MYO7A_000159" "g.76890874C>T" "" "{PMID:Najera 2002:12112664}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77179828C>T" "" "pathogenic" "" "0000380245" "10" "11" "11" "76910766" "76910766" "subst" "0.51417" "02417" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Najera 2002:12112664}" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000380246" "20" "11" "11" "76910766" "76910766" "subst" "0.51417" "02417" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Najera 2002:12112664}" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000380247" "20" "11" "11" "76853783" "76853783" "subst" "0.392567" "02417" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Najera 2002:12112664}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000380248" "0" "11" "11" "76870634" "76870634" "subst" "0" "02417" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Najera 2002:12112664}" "+BsrI;+TspRI;+BmrI;" "" "Heterozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000380249" "10" "11" "11" "76871131" "76871131" "subst" "0" "02417" "MYO7A_000287" "g.76871131G>C" "" "{PMID:Najera 2002:12112664}" "" "" "Homozygous" "Germline" "" "rs114524372" "0" "" "" "g.77160085G>C" "" "benign" "" "0000380250" "20" "11" "11" "76871131" "76871131" "subst" "0" "02417" "MYO7A_000287" "g.76871131G>C" "" "{PMID:Najera 2002:12112664}" "" "" "Homozygous" "Germline" "" "rs114524372" "0" "" "" "g.77160085G>C" "" "benign" "" "0000380251" "10" "11" "11" "76886396" "76886396" "subst" "0" "02417" "MYO7A_000288" "g.76886396G>A" "" "{PMID:Najera 2002:12112664}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77175350G>A" "" "benign" "" "0000380252" "20" "11" "11" "76886396" "76886396" "subst" "0" "02417" "MYO7A_000288" "g.76886396G>A" "" "{PMID:Najera 2002:12112664}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77175350G>A" "" "benign" "" "0000380253" "0" "11" "11" "76853783" "76853783" "subst" "0.392567" "02417" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Jaijo 2006:16470552}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Heterozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000380254" "2" "95" "11" "76895760" "76895760" "subst" "0" "02417" "MYO7A_000160" "g.76895760G>C" "0/200 controls" "{PMID:Jaijo 2006:16470552}" "-BsaWI;-MspI;-HpaII;" "" "Heterozygous; E27 skipping (Le Guédard-Méreuze , 2010)" "Germline" "" "" "0" "" "" "g.77184715G>C" "" "likely pathogenic" "ACMG" "0000380255" "1" "99" "11" "76867115" "76867115" "subst" "0" "02417" "MYO7A_000129" "g.76867115C>T" "" "{PMID:Jaijo 2006:16470552}" "+PvuII;+DdeI;+BspCNI;+AluI;+MspA1I;-BcgI;" "" "Heterozygous" "Germline" "" "rs121965079" "0" "" "" "g.77156069C>T" "" "pathogenic" "" "0000380256" "0" "11" "11" "76917220" "76917220" "subst" "0.516665" "02417" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Jaijo 2006:16470552}" "none" "" "Heterozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000380257" "0" "11" "11" "76870634" "76870634" "subst" "0" "02417" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Jaijo 2006:16470552}" "+BsrI;+TspRI;+BmrI;" "" "Heterozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000380258" "10" "11" "11" "76895772" "76895793" "del" "0" "02417" "MYO7A_000289" "g.76895772_76895793del" "" "{PMID:Jaijo 2006:16470552}" "" "3503+11_3503+32del22" "Homozygous" "Germline" "" "" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000380259" "20" "11" "11" "76895772" "76895793" "del" "0" "02417" "MYO7A_000289" "g.76895772_76895793del" "" "{PMID:Jaijo 2006:16470552}" "" "3503+11_3503+32del22" "Homozygous" "Germline" "" "" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000380260" "10" "11" "11" "76901927" "76901927" "subst" "0.517928" "02417" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Jaijo 2006:16470552}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000380261" "20" "11" "11" "76901927" "76901927" "subst" "0.517928" "02417" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Jaijo 2006:16470552}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000380262" "0" "11" "11" "76859069" "76859069" "subst" "0" "02417" "MYO7A_000290" "g.76859069C>T" "" "{PMID:Jaijo 2006:16470552}" "" "" "Heterozygous" "Germline" "" "rs4074664" "0" "" "" "g.77148023C>T" "" "benign" "" "0000380263" "1" "99" "11" "76893598" "76893598" "subst" "0" "02417" "MYO7A_000161" "g.76893598A>T" "0/68 controls" "{PMID:Cuevas 1999:10425080}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77182553A>T" "" "pathogenic" "" "0000380264" "2" "99" "11" "76900393" "76900393" "subst" "0.0000162752" "02417" "MYO7A_000023" "g.76900393G>A" "0/68 controls" "{PMID:Cuevas 1999:10425080}; USMA-{USMAMYO7A:E1170K} USMA-{MSV3dQ13402:p.Glu1170Lys}" "none" "" "Heterozygous" "Germline" "" "rs111033214" "0" "" "" "g.77189348G>A" "" "pathogenic" "" "0000380265" "1" "99" "11" "76893598" "76893598" "subst" "0" "02417" "MYO7A_000161" "g.76893598A>T" "0/68 controls" "{PMID:Cuevas 1999:10425080}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77182553A>T" "" "pathogenic" "" "0000380266" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02417" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Cuevas 1999:10425080}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000380267" "10" "11" "11" "76853783" "76853783" "subst" "0.392567" "02417" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Cuevas 1999:10425080}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000380268" "20" "11" "11" "76853783" "76853783" "subst" "0.392567" "02417" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Cuevas 1999:10425080}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000380269" "10" "11" "11" "76917220" "76917220" "subst" "0.516665" "02417" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Cuevas 1999:10425080}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000380270" "20" "11" "11" "76917220" "76917220" "subst" "0.516665" "02417" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Cuevas 1999:10425080}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000380271" "0" "11" "11" "76868372" "76868372" "subst" "0.388729" "02417" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Cuevas 1999:10425080}" "+FatI;+NlaIII;+CviAII;" "" "Heterozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000380272" "0" "11" "11" "76870634" "76870634" "subst" "0" "02417" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Cuevas 1999:10425080}" "+BsrI;+TspRI;+BmrI;" "" "Heterozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000380273" "0" "11" "11" "76886396" "76886396" "subst" "0" "02417" "MYO7A_000288" "g.76886396G>A" "" "{PMID:Cuevas 1999:10425080}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77175350G>A" "" "benign" "" "0000380274" "0" "11" "11" "76890242" "76890242" "subst" "0" "02417" "MYO7A_000059" "g.76890242T>C" "" "{PMID:Cuevas 1999:10425080}" "+MspA1I;+MwoI;+BbvI;-BtsI;-BstXI;-MslI;" "" "Heterozygous" "Germline" "" "rs10793239" "0" "" "" "g.77179196T>C" "" "benign" "" "0000380275" "0" "11" "11" "76894235" "76894235" "subst" "0.544568" "02417" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Cuevas 1999:10425080}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Heterozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000380276" "0" "11" "11" "76895772" "76895793" "del" "0" "02417" "MYO7A_000289" "g.76895772_76895793del" "" "{PMID:Cuevas 1999:10425080}" "" "3503+11_3503+32del22" "Heterozygous" "Germline" "" "" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000380277" "0" "11" "11" "76901927" "76901927" "subst" "0.517928" "02417" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Cuevas 1999:10425080}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Heterozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000380278" "2" "99" "11" "76900393" "76900393" "subst" "0.0000162752" "02417" "MYO7A_000023" "g.76900393G>A" "0/68 controls" "{PMID:Cuevas 1999:10425080}; USMA-{USMAMYO7A:E1170K} USMA-{MSV3dQ13402:p.Glu1170Lys}" "none" "" "Heterozygous" "Germline" "" "rs111033214" "0" "" "" "g.77189348G>A" "" "pathogenic" "" "0000380279" "0" "11" "11" "76870634" "76870634" "subst" "0" "02417" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Jaijo 2006:16470552}" "+BsrI;+TspRI;+BmrI;" "" "Heterozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000380280" "10" "99" "11" "76867944" "76867944" "subst" "0.0000040659" "02417" "MYO7A_000162" "g.76867944C>G" "" "{PMID:Jaijo 2006:16470552}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77156898C>G" "" "pathogenic" "" "0000380281" "20" "99" "11" "76867944" "76867944" "subst" "0.0000040659" "02417" "MYO7A_000162" "g.76867944C>G" "" "{PMID:Jaijo 2006:16470552}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77156898C>G" "" "pathogenic" "" "0000380282" "10" "11" "11" "76910766" "76910766" "subst" "0.51417" "02417" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Jaijo 2006:16470552}" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000380283" "20" "11" "11" "76910766" "76910766" "subst" "0.51417" "02417" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Jaijo 2006:16470552}" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000380284" "0" "11" "11" "76917220" "76917220" "subst" "0.516665" "02417" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Jaijo 2006:16470552}" "none" "" "Heterozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000380285" "10" "11" "11" "76925040" "76925040" "subst" "0.201995" "02417" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Jaijo 2006:16470552}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Homozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000380286" "20" "11" "11" "76925040" "76925040" "subst" "0.201995" "02417" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Jaijo 2006:16470552}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Homozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000380287" "0" "11" "11" "76853783" "76853783" "subst" "0.392567" "02417" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Jaijo 2006:16470552}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Heterozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000380288" "0" "99" "11" "76901165" "76901165" "subst" "0" "02417" "MYO7A_000163" "g.76901165C>G" "" "{PMID:Jaijo 2006:16470552}; USMA-{USMAMYO7A:P1244R} USMA-{MSV3dQ13402:p.Pro1244Arg}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77190120C>G" "" "pathogenic" "" "0000380289" "0" "99" "11" "76841686" "76841689" "dup" "0" "02417" "MYO7A_000164" "g.76841686_76841689dup" "" "{PMID:Jaijo 2006:16470552}" "none" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77130640_77130643dup" "" "pathogenic" "" "0000380290" "0" "11" "11" "76912636" "76912636" "subst" "0.550278" "02417" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Jaijo 2006:16470552}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Heterozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000380291" "10" "11" "11" "76917220" "76917220" "subst" "0.516665" "02417" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Jaijo 2006:16470552}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000380292" "20" "11" "11" "76917220" "76917220" "subst" "0.516665" "02417" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Jaijo 2006:16470552}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000380293" "0" "11" "11" "76868372" "76868372" "subst" "0.388729" "02417" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Jaijo 2006:16470552}" "+FatI;+NlaIII;+CviAII;" "" "Heterozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000380294" "0" "11" "11" "76870634" "76870634" "subst" "0" "02417" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Jaijo 2006:16470552}" "+BsrI;+TspRI;+BmrI;" "" "Heterozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000380295" "0" "11" "11" "76886396" "76886396" "subst" "0" "02417" "MYO7A_000288" "g.76886396G>A" "" "{PMID:Jaijo 2006:16470552}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77175350G>A" "" "benign" "" "0000380296" "0" "11" "11" "76890242" "76890242" "subst" "0" "02417" "MYO7A_000059" "g.76890242T>C" "" "{PMID:Jaijo 2006:16470552}" "+MspA1I;+MwoI;+BbvI;-BtsI;-BstXI;-MslI;" "" "Heterozygous" "Germline" "" "rs10793239" "0" "" "" "g.77179196T>C" "" "benign" "" "0000380297" "0" "11" "11" "76894235" "76894235" "subst" "0.544568" "02417" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Jaijo 2006:16470552}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Heterozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000380298" "0" "11" "11" "76901927" "76901927" "subst" "0.517928" "02417" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Jaijo 2006:16470552}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Heterozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000380299" "10" "11" "11" "76918322" "76918322" "subst" "0.589554" "02417" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Jaijo 2006:16470552}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000380300" "20" "11" "11" "76918322" "76918322" "subst" "0.589554" "02417" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Jaijo 2006:16470552}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000380301" "10" "11" "11" "76918497" "76918497" "subst" "0.560737" "02417" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Jaijo 2006:16470552}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000380302" "20" "11" "11" "76918497" "76918497" "subst" "0.560737" "02417" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Jaijo 2006:16470552}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000380303" "10" "11" "11" "76919865" "76919865" "subst" "0.566049" "02417" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Jaijo 2006:16470552}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000380304" "20" "11" "11" "76919865" "76919865" "subst" "0.566049" "02417" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Jaijo 2006:16470552}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000380305" "10" "11" "11" "76853783" "76853783" "subst" "0.392567" "02417" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000380306" "2" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02417" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Jaijo 2007:17361009}" "" "" "Heterozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380307" "1" "99" "11" "76901755" "76901755" "del" "0" "02417" "MYO7A_000165" "g.76901755del" "" "{PMID:Jaijo 2007:17361009}" "+Hpy188III" "3764delA" "Heterozygous" "Germline" "" "rs111033347" "0" "" "" "g.77190710del" "" "pathogenic" "" "0000380308" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02417" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000380309" "20" "11" "11" "76853783" "76853783" "subst" "0.392567" "02417" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000380310" "0" "11" "11" "76912636" "76912636" "subst" "0.550278" "02417" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Heterozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000380311" "0" "11" "11" "76917220" "76917220" "subst" "0.516665" "02417" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Heterozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000380312" "0" "11" "11" "76922946" "76922946" "subst" "0.17794" "02417" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Heterozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000380313" "0" "11" "11" "76868372" "76868372" "subst" "0.388729" "02417" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Jaijo 2007:17361009}" "+FatI;+NlaIII;+CviAII;" "" "Heterozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000380314" "0" "11" "11" "76870634" "76870634" "subst" "0" "02417" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+TspRI;+BmrI;" "" "Heterozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000380315" "0" "11" "11" "76877031" "76877031" "subst" "0" "02417" "MYO7A_000291" "g.76877031G>A" "" "{PMID:Jaijo 2007:17361009}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77165985G>A" "" "benign" "" "0000380316" "0" "11" "11" "76886396" "76886396" "subst" "0" "02417" "MYO7A_000288" "g.76886396G>A" "" "{PMID:Jaijo 2007:17361009}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77175350G>A" "" "benign" "" "0000380317" "0" "11" "11" "76890242" "76890242" "subst" "0" "02417" "MYO7A_000059" "g.76890242T>C" "" "{PMID:Jaijo 2007:17361009}" "+MspA1I;+MwoI;+BbvI;-BtsI;-BstXI;-MslI;" "" "Heterozygous" "Germline" "" "rs10793239" "0" "" "" "g.77179196T>C" "" "benign" "" "0000380318" "0" "11" "11" "76894235" "76894235" "subst" "0.544568" "02417" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Jaijo 2007:17361009}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Heterozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000380319" "0" "11" "11" "76895772" "76895793" "del" "0" "02417" "MYO7A_000289" "g.76895772_76895793del" "" "{PMID:Jaijo 2007:17361009}" "" "3503+11_3503+32del22" "Heterozygous" "Germline" "" "" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000380320" "0" "11" "11" "76901927" "76901927" "subst" "0.517928" "02417" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Jaijo 2007:17361009}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Heterozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000380321" "0" "11" "11" "76859069" "76859069" "subst" "0" "02417" "MYO7A_000290" "g.76859069C>T" "" "{PMID:Jaijo 2007:17361009}" "" "" "Heterozygous" "Germline" "" "rs4074664" "0" "" "" "g.77148023C>T" "" "benign" "" "0000380322" "0" "11" "11" "76918322" "76918322" "subst" "0.589554" "02417" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Jaijo 2007:17361009}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Heterozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000380323" "0" "11" "11" "76918307" "76918307" "subst" "0" "02417" "MYO7A_000292" "g.76918307G>C" "" "{PMID:Jaijo 2007:17361009}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77207262G>C" "" "benign" "" "0000380324" "0" "11" "11" "76918497" "76918497" "subst" "0.560737" "02417" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Heterozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000380325" "0" "11" "11" "76919865" "76919865" "subst" "0.566049" "02417" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Jaijo 2007:17361009}" "+SpeI" "" "Heterozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000380326" "0" "11" "11" "76923017" "76923017" "subst" "0.180455" "02417" "MYO7A_000034" "g.76923017G>A" "" "{PMID:Jaijo 2007:17361009}" "+BseRI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77211972G>A" "" "benign" "" "0000380327" "0" "11" "11" "76925040" "76925040" "subst" "0.201995" "02417" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Heterozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000380328" "0" "11" "11" "76870634" "76870634" "subst" "0" "02417" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+TspRI;+BmrI;" "" "Heterozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000380329" "10" "99" "11" "76918426" "76918429" "del" "0" "02417" "MYO7A_000166" "g.76918426_76918429del" "" "{PMID:Jaijo 2007:17361009}" "" "5835_5838delCTTT" "Homozygous" "Germline" "" "" "0" "" "" "g.77207381_77207384del" "" "pathogenic" "" "0000380330" "20" "99" "11" "76918426" "76918429" "del" "0" "02417" "MYO7A_000166" "g.76918426_76918429del" "" "{PMID:Jaijo 2007:17361009}" "" "5835_5838delCTTT" "Homozygous" "Germline" "" "" "0" "" "" "g.77207381_77207384del" "" "pathogenic" "" "0000380331" "10" "11" "11" "76868372" "76868372" "subst" "0.388729" "02417" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Jaijo 2007:17361009}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000380332" "20" "11" "11" "76868372" "76868372" "subst" "0.388729" "02417" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Jaijo 2007:17361009}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000380333" "10" "11" "11" "76890242" "76890242" "subst" "0" "02417" "MYO7A_000059" "g.76890242T>C" "" "{PMID:Jaijo 2007:17361009}" "+MspA1I;+MwoI;+BbvI;-BtsI;-BstXI;-MslI;" "" "Homozygous" "Germline" "" "rs10793239" "0" "" "" "g.77179196T>C" "" "benign" "" "0000380334" "20" "11" "11" "76890242" "76890242" "subst" "0" "02417" "MYO7A_000059" "g.76890242T>C" "" "{PMID:Jaijo 2007:17361009}" "+MspA1I;+MwoI;+BbvI;-BtsI;-BstXI;-MslI;" "" "Homozygous" "Germline" "" "rs10793239" "0" "" "" "g.77179196T>C" "" "benign" "" "0000380335" "10" "11" "11" "76894235" "76894235" "subst" "0.544568" "02417" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Jaijo 2007:17361009}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Homozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000380336" "20" "11" "11" "76894235" "76894235" "subst" "0.544568" "02417" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Jaijo 2007:17361009}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Homozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000380337" "10" "11" "11" "76895772" "76895793" "del" "0" "02417" "MYO7A_000289" "g.76895772_76895793del" "" "{PMID:Jaijo 2007:17361009}" "" "3503+11_3503+32del22" "Homozygous" "Germline" "" "" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000380338" "20" "11" "11" "76895772" "76895793" "del" "0" "02417" "MYO7A_000289" "g.76895772_76895793del" "" "{PMID:Jaijo 2007:17361009}" "" "3503+11_3503+32del22" "Homozygous" "Germline" "" "" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000380339" "10" "11" "11" "76901927" "76901927" "subst" "0.517928" "02417" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Jaijo 2007:17361009}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000380340" "20" "11" "11" "76901927" "76901927" "subst" "0.517928" "02417" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Jaijo 2007:17361009}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000380341" "10" "11" "11" "76919865" "76919865" "subst" "0.566049" "02417" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Jaijo 2007:17361009}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000380342" "20" "11" "11" "76919865" "76919865" "subst" "0.566049" "02417" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Jaijo 2007:17361009}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000380343" "1" "99" "11" "76853813" "76853813" "subst" "0.00000412776" "02417" "MYO7A_000168" "g.76853813C>A" "" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:A26E} USMA-{MSV3dQ13402:p.Ala26Glu}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77142767C>A" "" "pathogenic" "" "0000380344" "2" "75" "11" "76871225" "76871225" "subst" "0" "02417" "MYO7A_000167" "g.76871225T>C" "0/100 controls" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:L366P} USMA-{MSV3dQ13402:p.Leu366Pro}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77160179T>C" "" "VUS" "ACMG" "0000380345" "0" "11" "11" "76922946" "76922946" "subst" "0.17794" "02417" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Heterozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000380346" "0" "11" "11" "76870634" "76870634" "subst" "0" "02417" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+TspRI;+BmrI;" "" "Heterozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000380347" "10" "11" "11" "76890242" "76890242" "subst" "0" "02417" "MYO7A_000059" "g.76890242T>C" "" "{PMID:Jaijo 2007:17361009}" "+MspA1I;+MwoI;+BbvI;-BtsI;-BstXI;-MslI;" "" "Homozygous" "Germline" "" "rs10793239" "0" "" "" "g.77179196T>C" "" "benign" "" "0000380348" "20" "11" "11" "76890242" "76890242" "subst" "0" "02417" "MYO7A_000059" "g.76890242T>C" "" "{PMID:Jaijo 2007:17361009}" "+MspA1I;+MwoI;+BbvI;-BtsI;-BstXI;-MslI;" "" "Homozygous" "Germline" "" "rs10793239" "0" "" "" "g.77179196T>C" "" "benign" "" "0000380349" "10" "11" "11" "76894235" "76894235" "subst" "0.544568" "02417" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Jaijo 2007:17361009}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Homozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000380350" "20" "11" "11" "76894235" "76894235" "subst" "0.544568" "02417" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Jaijo 2007:17361009}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Homozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000380351" "10" "11" "11" "76895772" "76895793" "del" "0" "02417" "MYO7A_000289" "g.76895772_76895793del" "" "{PMID:Jaijo 2007:17361009}" "" "3503+11_3503+32del22" "Homozygous" "Germline" "" "" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000380352" "20" "11" "11" "76895772" "76895793" "del" "0" "02417" "MYO7A_000289" "g.76895772_76895793del" "" "{PMID:Jaijo 2007:17361009}" "" "3503+11_3503+32del22" "Homozygous" "Germline" "" "" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000380353" "10" "11" "11" "76901927" "76901927" "subst" "0.517928" "02417" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Jaijo 2007:17361009}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000380354" "20" "11" "11" "76901927" "76901927" "subst" "0.517928" "02417" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Jaijo 2007:17361009}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Homozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000380355" "0" "11" "11" "76918322" "76918322" "subst" "0.589554" "02417" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Jaijo 2007:17361009}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Heterozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000380356" "0" "11" "11" "76918497" "76918497" "subst" "0.560737" "02417" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Heterozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000380357" "0" "11" "11" "76919865" "76919865" "subst" "0.566049" "02417" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Jaijo 2007:17361009}" "+SpeI" "" "Heterozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000380358" "0" "11" "11" "76923017" "76923017" "subst" "0.180455" "02417" "MYO7A_000034" "g.76923017G>A" "" "{PMID:Jaijo 2007:17361009}" "+BseRI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77211972G>A" "" "benign" "" "0000380359" "0" "11" "11" "76925040" "76925040" "subst" "0.201995" "02417" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Heterozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000380360" "2" "99" "11" "76901153" "76901153" "subst" "0.0000764877" "02417" "MYO7A_000033" "g.76901153G>A" "" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:R1240Q} USMA-{MSV3dQ13402:p.Arg1240Gln}" "none" "" "Heterozygous" "Germline" "" "rs111033178" "0" "" "" "g.77190108G>A" "" "pathogenic" "" "0000380361" "1" "99" "11" "76869459" "76869459" "dup" "0" "02417" "MYO7A_000169" "g.76869459dup" "" "{PMID:Jaijo 2007:17361009}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77158413dup" "" "pathogenic" "" "0000380362" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02417" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000380363" "0" "11" "11" "76912636" "76912636" "subst" "0.550278" "02417" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Heterozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000380364" "0" "11" "11" "76917220" "76917220" "subst" "0.516665" "02417" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Heterozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000380365" "0" "11" "11" "76922868" "76922868" "subst" "0.0258668" "02417" "MYO7A_000036" "g.76922868C>T" "" "{PMID:Jaijo 2007:17361009}" "-BccI" "" "Heterozygous" "Germline" "" "rs41298757" "0" "" "" "g.77211823C>T" "" "benign" "" "0000380366" "10" "11" "11" "76922946" "76922946" "subst" "0.17794" "02417" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Homozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000380367" "20" "11" "11" "76922946" "76922946" "subst" "0.17794" "02417" "MYO7A_000035" "g.76922946G>A" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Homozygous" "Germline" "" "rs11237123" "0" "" "" "g.77211901G>A" "" "benign" "" "0000380368" "0" "11" "11" "76868372" "76868372" "subst" "0.388729" "02417" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Jaijo 2007:17361009}" "+FatI;+NlaIII;+CviAII;" "" "Heterozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000380369" "0" "11" "11" "76870634" "76870634" "subst" "0" "02417" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+TspRI;+BmrI;" "" "Heterozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000380370" "0" "11" "11" "76894235" "76894235" "subst" "0.544568" "02417" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Jaijo 2007:17361009}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Heterozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000380371" "0" "11" "11" "76895772" "76895793" "del" "0" "02417" "MYO7A_000289" "g.76895772_76895793del" "" "{PMID:Jaijo 2007:17361009}" "" "3503+11_3503+32del22" "Heterozygous" "Germline" "" "" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000380372" "0" "11" "11" "76901927" "76901927" "subst" "0.517928" "02417" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Jaijo 2007:17361009}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Heterozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000380373" "10" "11" "11" "76918322" "76918322" "subst" "0.589554" "02417" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Jaijo 2007:17361009}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000380374" "20" "11" "11" "76918322" "76918322" "subst" "0.589554" "02417" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Jaijo 2007:17361009}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000380375" "10" "11" "11" "76918497" "76918497" "subst" "0.560737" "02417" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000380376" "20" "11" "11" "76918497" "76918497" "subst" "0.560737" "02417" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000380377" "10" "11" "11" "76919865" "76919865" "subst" "0.566049" "02417" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Jaijo 2007:17361009}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000380378" "20" "11" "11" "76919865" "76919865" "subst" "0.566049" "02417" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Jaijo 2007:17361009}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000380379" "10" "11" "11" "76925040" "76925040" "subst" "0.201995" "02417" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Homozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000380380" "20" "11" "11" "76925040" "76925040" "subst" "0.201995" "02417" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Homozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000380381" "0" "11" "11" "76853783" "76853783" "subst" "0.392567" "02417" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Heterozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000380382" "2" "99" "11" "76919822" "76919822" "del" "0" "02417" "MYO7A_000104" "g.76919822del" "" "{PMID:Jaijo 2007:17361009}" "-EaeI;-CviKI_1;-HaeIII;-NcoI;-StyI;-PhoI;" "6025delG" "Heterozygous" "Germline" "" "" "0" "" "" "g.77208777del" "" "pathogenic" "" "0000380383" "1" "99" "11" "76868036" "76868036" "subst" "0.00000407213" "02417" "MYO7A_000170" "g.76868036C>G" "0/100 controls" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:R241G} USMA-{MSV3dQ13402:p.Arg241Gly}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156990C>G" "" "pathogenic" "" "0000380384" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02417" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000380385" "0" "11" "11" "76912636" "76912636" "subst" "0.550278" "02417" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Heterozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000380386" "0" "11" "11" "76917220" "76917220" "subst" "0.516665" "02417" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Heterozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000380387" "0" "11" "11" "76868372" "76868372" "subst" "0.388729" "02417" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Jaijo 2007:17361009}" "+FatI;+NlaIII;+CviAII;" "" "Heterozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000380388" "0" "11" "11" "76870634" "76870634" "subst" "0" "02417" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+TspRI;+BmrI;" "" "Heterozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000380389" "0" "11" "11" "76886396" "76886396" "subst" "0" "02417" "MYO7A_000288" "g.76886396G>A" "" "{PMID:Jaijo 2007:17361009}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77175350G>A" "" "benign" "" "0000380390" "0" "11" "11" "76890242" "76890242" "subst" "0" "02417" "MYO7A_000059" "g.76890242T>C" "" "{PMID:Jaijo 2007:17361009}" "+MspA1I;+MwoI;+BbvI;-BtsI;-BstXI;-MslI;" "" "Heterozygous" "Germline" "" "rs10793239" "0" "" "" "g.77179196T>C" "" "benign" "" "0000380391" "0" "11" "11" "76894235" "76894235" "subst" "0.544568" "02417" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Jaijo 2007:17361009}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Heterozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000380392" "0" "11" "11" "76895772" "76895793" "del" "0" "02417" "MYO7A_000289" "g.76895772_76895793del" "" "{PMID:Jaijo 2007:17361009}" "" "3503+11_3503+32del22" "Heterozygous" "Germline" "" "" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000380393" "0" "11" "11" "76901927" "76901927" "subst" "0.517928" "02417" "MYO7A_000042" "g.76901927C>T" "" "{PMID:Jaijo 2007:17361009}" "+PspGI;+BstNI;-HpaII;-NciI;-MspI;" "" "Heterozygous" "Germline" "" "rs2276285" "0" "" "" "g.77190882C>T" "" "benign" "" "0000380394" "0" "11" "11" "76918322" "76918322" "subst" "0.589554" "02417" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Jaijo 2007:17361009}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Heterozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000380395" "0" "11" "11" "76918497" "76918497" "subst" "0.560737" "02417" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Heterozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000380396" "0" "11" "11" "76925040" "76925040" "subst" "0.201995" "02417" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Heterozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000380397" "2" "95" "11" "76901086" "76901086" "subst" "0" "02417" "MYO7A_000171" "g.76901086G>A" "0/100 controls" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:G1218R} USMA-{MSV3dQ13402:p.Gly1218Arg}" "" "" "Heterozygous; shown in Aparisi , 2013 to affect splicing (p.(Asn443_Glu450del))" "Germline" "" "rs111033195" "0" "" "" "g.77190041G>A" "" "likely pathogenic" "ACMG" "0000380398" "1" "99" "11" "76868036" "76868036" "subst" "0.00000407213" "02417" "MYO7A_000170" "g.76868036C>G" "0/100 controls" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:R241G} USMA-{MSV3dQ13402:p.Arg241Gly}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77156990C>G" "" "pathogenic" "" "0000380399" "0" "11" "11" "76917220" "76917220" "subst" "0.516665" "02417" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Heterozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000380400" "10" "11" "11" "76868372" "76868372" "subst" "0.388729" "02417" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Jaijo 2007:17361009}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000380401" "20" "11" "11" "76868372" "76868372" "subst" "0.388729" "02417" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Jaijo 2007:17361009}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000380402" "10" "11" "11" "76870634" "76870634" "subst" "0" "02417" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+TspRI;+BmrI;" "" "Homozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000380403" "20" "11" "11" "76870634" "76870634" "subst" "0" "02417" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+TspRI;+BmrI;" "" "Homozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000380404" "10" "11" "11" "76886396" "76886396" "subst" "0" "02417" "MYO7A_000288" "g.76886396G>A" "" "{PMID:Jaijo 2007:17361009}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77175350G>A" "" "benign" "" "0000380405" "20" "11" "11" "76886396" "76886396" "subst" "0" "02417" "MYO7A_000288" "g.76886396G>A" "" "{PMID:Jaijo 2007:17361009}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77175350G>A" "" "benign" "" "0000380406" "10" "11" "11" "76890242" "76890242" "subst" "0" "02417" "MYO7A_000059" "g.76890242T>C" "" "{PMID:Jaijo 2007:17361009}" "+MspA1I;+MwoI;+BbvI;-BtsI;-BstXI;-MslI;" "" "Homozygous" "Germline" "" "rs10793239" "0" "" "" "g.77179196T>C" "" "benign" "" "0000380407" "20" "11" "11" "76890242" "76890242" "subst" "0" "02417" "MYO7A_000059" "g.76890242T>C" "" "{PMID:Jaijo 2007:17361009}" "+MspA1I;+MwoI;+BbvI;-BtsI;-BstXI;-MslI;" "" "Homozygous" "Germline" "" "rs10793239" "0" "" "" "g.77179196T>C" "" "benign" "" "0000380408" "10" "11" "11" "76894235" "76894235" "subst" "0.544568" "02417" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Jaijo 2007:17361009}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Homozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000380409" "20" "11" "11" "76894235" "76894235" "subst" "0.544568" "02417" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Jaijo 2007:17361009}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Homozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000380410" "10" "11" "11" "76895772" "76895793" "del" "0" "02417" "MYO7A_000289" "g.76895772_76895793del" "" "{PMID:Jaijo 2007:17361009}" "" "3503+11_3503+32del22" "Homozygous" "Germline" "" "" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000380411" "20" "11" "11" "76895772" "76895793" "del" "0" "02417" "MYO7A_000289" "g.76895772_76895793del" "" "{PMID:Jaijo 2007:17361009}" "" "3503+11_3503+32del22" "Homozygous" "Germline" "" "" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000380412" "0" "11" "11" "76918322" "76918322" "subst" "0.589554" "02417" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Jaijo 2007:17361009}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Heterozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000380413" "10" "11" "11" "76918497" "76918497" "subst" "0.560737" "02417" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000380414" "20" "11" "11" "76918497" "76918497" "subst" "0.560737" "02417" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000380415" "0" "11" "11" "76919865" "76919865" "subst" "0.566049" "02417" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Jaijo 2007:17361009}" "+SpeI" "" "Heterozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000380416" "10" "99" "11" "76867062" "76867062" "subst" "0" "02417" "MYO7A_000172" "g.76867062C>T" "0/100 controls" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:P132L} USMA-{MSV3dQ13402:p.Pro132Leu}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77156016C>T" "" "pathogenic" "" "0000380417" "20" "99" "11" "76867062" "76867062" "subst" "0" "02417" "MYO7A_000172" "g.76867062C>T" "0/100 controls" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:P132L} USMA-{MSV3dQ13402:p.Pro132Leu}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77156016C>T" "" "pathogenic" "" "0000380418" "10" "11" "11" "76910766" "76910766" "subst" "0.51417" "02417" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000380419" "20" "11" "11" "76910766" "76910766" "subst" "0.51417" "02417" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000380420" "10" "11" "11" "76912636" "76912636" "subst" "0.550278" "02417" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000380421" "20" "11" "11" "76912636" "76912636" "subst" "0.550278" "02417" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000380422" "10" "11" "11" "76917220" "76917220" "subst" "0.516665" "02417" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000380423" "20" "11" "11" "76917220" "76917220" "subst" "0.516665" "02417" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000380424" "0" "11" "11" "76870634" "76870634" "subst" "0" "02417" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+TspRI;+BmrI;" "" "Heterozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000380425" "0" "75" "11" "76909573" "76909573" "subst" "0" "02417" "MYO7A_000173" "g.76909573C>T" "0/100 controls" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:A1492V} USMA-{MSV3dQ13402:p.Ala1492Val}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77198528C>T" "" "VUS" "ACMG" "0000380426" "10" "11" "11" "76910766" "76910766" "subst" "0.51417" "02417" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000380427" "20" "11" "11" "76910766" "76910766" "subst" "0.51417" "02417" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000380428" "10" "11" "11" "76917220" "76917220" "subst" "0.516665" "02417" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000380429" "20" "11" "11" "76917220" "76917220" "subst" "0.516665" "02417" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000380430" "0" "11" "11" "76870634" "76870634" "subst" "0" "02417" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+TspRI;+BmrI;" "" "Heterozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000380431" "10" "11" "11" "76886396" "76886396" "subst" "0" "02417" "MYO7A_000288" "g.76886396G>A" "" "{PMID:Jaijo 2007:17361009}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77175350G>A" "" "benign" "" "0000380432" "20" "11" "11" "76886396" "76886396" "subst" "0" "02417" "MYO7A_000288" "g.76886396G>A" "" "{PMID:Jaijo 2007:17361009}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77175350G>A" "" "benign" "" "0000380433" "10" "99" "11" "76890090" "76890090" "subst" "0" "02417" "MYO7A_000086" "g.76890090G>T" "0/100 controls" "{PMID:Jaijo 2007:17361009}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous; E20 skipping (Jaijo , 2010)" "Germline" "" "" "0" "" "" "g.77179044G>T" "" "pathogenic" "" "0000380434" "10" "11" "11" "76870634" "76870634" "subst" "0" "02417" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+TspRI;+BmrI;" "" "Homozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000380435" "20" "11" "11" "76870634" "76870634" "subst" "0" "02417" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+TspRI;+BmrI;" "" "Homozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000380436" "20" "99" "11" "76890090" "76890090" "subst" "0" "02417" "MYO7A_000086" "g.76890090G>T" "0/100 controls" "{PMID:Jaijo 2007:17361009}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous; E20 skipping (Jaijo , 2010)" "Germline" "" "" "0" "" "" "g.77179044G>T" "" "pathogenic" "" "0000380437" "10" "11" "11" "76910766" "76910766" "subst" "0.51417" "02417" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000380438" "20" "11" "11" "76910766" "76910766" "subst" "0.51417" "02417" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000380439" "10" "11" "11" "76917220" "76917220" "subst" "0.516665" "02417" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000380440" "20" "11" "11" "76917220" "76917220" "subst" "0.516665" "02417" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000380441" "10" "11" "11" "76925040" "76925040" "subst" "0.201995" "02417" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Homozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000380442" "20" "11" "11" "76925040" "76925040" "subst" "0.201995" "02417" "MYO7A_000021" "g.76925040G>A" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+BmrI;-MwoI;-BseYI ;" "" "Homozygous" "Germline" "" "rs883224" "0" "" "" "g.77213995G>A" "" "benign" "" "0000380443" "10" "11" "11" "76853783" "76853783" "subst" "0.392567" "02417" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000380444" "10" "99" "11" "76867970" "76867975" "del" "0" "02417" "MYO7A_000174" "g.76867970_76867975del" "0/100 controls" "{PMID:Jaijo 2007:17361009}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77156924_77156929del" "" "VUS" "ACMG" "0000380445" "20" "99" "11" "76867970" "76867975" "del" "0" "02417" "MYO7A_000174" "g.76867970_76867975del" "0/100 controls" "{PMID:Jaijo 2007:17361009}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77156924_77156929del" "" "VUS" "ACMG" "0000380446" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02417" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000380447" "20" "11" "11" "76853783" "76853783" "subst" "0.392567" "02417" "MYO7A_000031" "g.76853783T>C" "" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:L16S} USMA-{MSV3dQ13402:p.Leu16Ser}" "+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI;" "" "Homozygous" "Germline" "" "rs1052030" "0" "" "" "g.77142737T>C" "" "benign" "" "0000380448" "10" "11" "11" "76868372" "76868372" "subst" "0.388729" "02417" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Jaijo 2007:17361009}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000380449" "20" "11" "11" "76868372" "76868372" "subst" "0.388729" "02417" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Jaijo 2007:17361009}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000380450" "0" "11" "11" "76870634" "76870634" "subst" "0" "02417" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+TspRI;+BmrI;" "" "Heterozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000380451" "10" "11" "11" "76890242" "76890242" "subst" "0" "02417" "MYO7A_000059" "g.76890242T>C" "" "{PMID:Jaijo 2007:17361009}" "+MspA1I;+MwoI;+BbvI;-BtsI;-BstXI;-MslI;" "" "Homozygous" "Germline" "" "rs10793239" "0" "" "" "g.77179196T>C" "" "benign" "" "0000380452" "20" "11" "11" "76890242" "76890242" "subst" "0" "02417" "MYO7A_000059" "g.76890242T>C" "" "{PMID:Jaijo 2007:17361009}" "+MspA1I;+MwoI;+BbvI;-BtsI;-BstXI;-MslI;" "" "Homozygous" "Germline" "" "rs10793239" "0" "" "" "g.77179196T>C" "" "benign" "" "0000380453" "10" "11" "11" "76894235" "76894235" "subst" "0.544568" "02417" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Jaijo 2007:17361009}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Homozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000380454" "20" "11" "11" "76894235" "76894235" "subst" "0.544568" "02417" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Jaijo 2007:17361009}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Homozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000380455" "10" "11" "11" "76895772" "76895793" "del" "0" "02417" "MYO7A_000289" "g.76895772_76895793del" "" "{PMID:Jaijo 2007:17361009}" "" "3503+11_3503+32del22" "Homozygous" "Germline" "" "" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000380456" "20" "11" "11" "76895772" "76895793" "del" "0" "02417" "MYO7A_000289" "g.76895772_76895793del" "" "{PMID:Jaijo 2007:17361009}" "" "3503+11_3503+32del22" "Homozygous" "Germline" "" "" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000380457" "10" "11" "11" "76918322" "76918322" "subst" "0.589554" "02417" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Jaijo 2007:17361009}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000380458" "20" "11" "11" "76918322" "76918322" "subst" "0.589554" "02417" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Jaijo 2007:17361009}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000380459" "10" "11" "11" "76918497" "76918497" "subst" "0.560737" "02417" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000380460" "20" "11" "11" "76918497" "76918497" "subst" "0.560737" "02417" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000380461" "10" "75" "11" "76893494" "76893494" "subst" "0.000134638" "02417" "MYO7A_000176" "g.76893494T>C" "0/100 controls" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:I1045T} USMA-{MSV3dQ13402:p.Ile1045Thr}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77182449T>C" "" "VUS" "ACMG" "0000380462" "10" "75" "11" "76916533" "76916533" "subst" "0" "02417" "MYO7A_000175" "g.76916533T>C" "0/100 controls" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:L1836P} USMA-{MSV3dQ13402:p.Leu1836Pro}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77205488T>C" "" "VUS" "ACMG" "0000380463" "20" "75" "11" "76916533" "76916533" "subst" "0" "02417" "MYO7A_000175" "g.76916533T>C" "0/100 controls" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:L1836P} USMA-{MSV3dQ13402:p.Leu1836Pro}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77205488T>C" "" "VUS" "ACMG" "0000380464" "20" "75" "11" "76893494" "76893494" "subst" "0.000134638" "02417" "MYO7A_000176" "g.76893494T>C" "0/100 controls" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:I1045T} USMA-{MSV3dQ13402:p.Ile1045Thr}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77182449T>C" "" "VUS" "ACMG" "0000380465" "10" "11" "11" "76910766" "76910766" "subst" "0.51417" "02417" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000380466" "20" "11" "11" "76910766" "76910766" "subst" "0.51417" "02417" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;-BsrDI;" "" "Homozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000380467" "10" "11" "11" "76912636" "76912636" "subst" "0.550278" "02417" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000380468" "20" "11" "11" "76912636" "76912636" "subst" "0.550278" "02417" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Homozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000380469" "10" "11" "11" "76917220" "76917220" "subst" "0.516665" "02417" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000380470" "20" "11" "11" "76917220" "76917220" "subst" "0.516665" "02417" "MYO7A_000038" "g.76917220A>G" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Homozygous" "Germline" "" "rs2276293" "0" "" "" "g.77206175A>G" "" "benign" "" "0000380471" "0" "11" "11" "76870634" "76870634" "subst" "0" "02417" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+TspRI;+BmrI;" "" "Heterozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000380472" "10" "11" "11" "76886396" "76886396" "subst" "0" "02417" "MYO7A_000288" "g.76886396G>A" "" "{PMID:Jaijo 2007:17361009}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77175350G>A" "" "benign" "" "0000380473" "20" "11" "11" "76886396" "76886396" "subst" "0" "02417" "MYO7A_000288" "g.76886396G>A" "" "{PMID:Jaijo 2007:17361009}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77175350G>A" "" "benign" "" "0000380474" "0" "11" "11" "76912636" "76912636" "subst" "0.550278" "02417" "MYO7A_000054" "g.76912636A>T" "" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:S1666C} USMA-{MSV3dQ13402:p.Ser1666Cys}" "-TspRI" "" "Heterozygous" "Germline" "" "rs2276288" "0" "" "" "g.77201591A>T" "" "benign" "" "0000380475" "2" "99" "11" "76905543" "76905543" "del" "0" "02417" "MYO7A_000029" "g.76905543del" "" "{PMID:Jaijo 2007:17361009}" "" "4297delC" "Heterozygous" "Germline" "" "" "0" "" "" "g.77194498del" "" "pathogenic" "" "0000380476" "1" "99" "11" "76883880" "76883880" "subst" "0" "02417" "MYO7A_000178" "g.76883880C>A" "" "{PMID:Jaijo 2007:17361009}" "" "" "Heterozygous" "Germline" "" "rs121965083" "0" "" "" "g.77172834C>A" "" "pathogenic" "" "0000380477" "0" "11" "11" "76910766" "76910766" "subst" "0.51417" "02417" "MYO7A_000039" "g.76910766C>T" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;-BsrDI;" "" "Heterozygous" "Germline" "" "rs7927472" "0" "" "" "g.77199721C>T" "" "benign" "" "0000380478" "0" "11" "11" "76868372" "76868372" "subst" "0.388729" "02417" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Jaijo 2007:17361009}" "+FatI;+NlaIII;+CviAII;" "" "Heterozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000380479" "0" "11" "11" "76870634" "76870634" "subst" "0" "02417" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+TspRI;+BmrI;" "" "Heterozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000380480" "0" "11" "11" "76886396" "76886396" "subst" "0" "02417" "MYO7A_000288" "g.76886396G>A" "" "{PMID:Jaijo 2007:17361009}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.77175350G>A" "" "benign" "" "0000380481" "0" "11" "11" "76890242" "76890242" "subst" "0" "02417" "MYO7A_000059" "g.76890242T>C" "" "{PMID:Jaijo 2007:17361009}" "+MspA1I;+MwoI;+BbvI;-BtsI;-BstXI;-MslI;" "" "Heterozygous" "Germline" "" "rs10793239" "0" "" "" "g.77179196T>C" "" "benign" "" "0000380482" "0" "11" "11" "76894235" "76894235" "subst" "0.544568" "02417" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Jaijo 2007:17361009}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Heterozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000380483" "0" "11" "11" "76895772" "76895793" "del" "0" "02417" "MYO7A_000289" "g.76895772_76895793del" "" "{PMID:Jaijo 2007:17361009}" "" "3503+11_3503+32del22" "Heterozygous" "Germline" "" "" "0" "" "" "g.77184727_77184748del" "" "benign" "" "0000380484" "0" "11" "11" "76918322" "76918322" "subst" "0.589554" "02417" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Jaijo 2007:17361009}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Heterozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000380485" "0" "11" "11" "76918497" "76918497" "subst" "0.560737" "02417" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Heterozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000380486" "0" "11" "11" "76919865" "76919865" "subst" "0.566049" "02417" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Jaijo 2007:17361009}" "+SpeI" "" "Heterozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000380487" "10" "99" "11" "76868036" "76868036" "subst" "0.00000407213" "02417" "MYO7A_000170" "g.76868036C>G" "0/100 controls" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:R241G} USMA-{MSV3dQ13402:p.Arg241Gly}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77156990C>G" "" "pathogenic" "" "0000380488" "20" "99" "11" "76868036" "76868036" "subst" "0.00000407213" "02417" "MYO7A_000170" "g.76868036C>G" "0/100 controls" "{PMID:Jaijo 2007:17361009}; USMA-{USMAMYO7A:R241G} USMA-{MSV3dQ13402:p.Arg241Gly}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77156990C>G" "" "pathogenic" "" "0000380489" "10" "11" "11" "76868372" "76868372" "subst" "0.388729" "02417" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Jaijo 2007:17361009}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000380490" "20" "11" "11" "76868372" "76868372" "subst" "0.388729" "02417" "MYO7A_000047" "g.76868372T>C" "" "{PMID:Jaijo 2007:17361009}" "+FatI;+NlaIII;+CviAII;" "" "Homozygous" "Germline" "" "rs762667" "0" "" "" "g.77157326T>C" "" "benign" "" "0000380491" "10" "11" "11" "76870634" "76870634" "subst" "0" "02417" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+TspRI;+BmrI;" "" "Homozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000380492" "20" "11" "11" "76870634" "76870634" "subst" "0" "02417" "MYO7A_000060" "g.76870634T>C" "" "{PMID:Jaijo 2007:17361009}" "+BsrI;+TspRI;+BmrI;" "" "Homozygous" "Germline" "" "rs4944145" "0" "" "" "g.77159588T>C" "" "benign" "" "0000380493" "10" "11" "11" "76885974" "76885995" "del" "0" "02417" "MYO7A_000295" "g.76885974_76885995del" "" "{PMID:Jaijo 2007:17361009}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77174928_77174949del" "" "benign" "" "0000380494" "20" "11" "11" "76885974" "76885995" "del" "0" "02417" "MYO7A_000295" "g.76885974_76885995del" "" "{PMID:Jaijo 2007:17361009}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77174928_77174949del" "" "benign" "" "0000380495" "10" "11" "11" "76886396" "76886396" "subst" "0" "02417" "MYO7A_000288" "g.76886396G>A" "" "{PMID:Jaijo 2007:17361009}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77175350G>A" "" "benign" "" "0000380496" "20" "11" "11" "76886396" "76886396" "subst" "0" "02417" "MYO7A_000288" "g.76886396G>A" "" "{PMID:Jaijo 2007:17361009}" "" "" "Homozygous" "Germline" "" "" "0" "" "" "g.77175350G>A" "" "benign" "" "0000380497" "10" "11" "11" "76894235" "76894235" "subst" "0.544568" "02417" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Jaijo 2007:17361009}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Homozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000380498" "20" "11" "11" "76894235" "76894235" "subst" "0.544568" "02417" "MYO7A_000071" "g.76894235G>C" "" "{PMID:Jaijo 2007:17361009}" "-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "Homozygous" "Germline" "" "rs948972" "0" "" "" "g.77183190G>C" "" "benign" "" "0000380499" "10" "11" "11" "76918322" "76918322" "subst" "0.589554" "02417" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Jaijo 2007:17361009}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000380500" "20" "11" "11" "76918322" "76918322" "subst" "0.589554" "02417" "MYO7A_000027" "g.76918322T>C" "" "{PMID:Jaijo 2007:17361009}" "+AciI;+HphI;-TspRI;-BtsI;" "" "Homozygous" "Germline" "" "rs2276291" "0" "" "" "g.77207277T>C" "" "benign" "" "0000380501" "10" "11" "11" "76918497" "76918497" "subst" "0.560737" "02417" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000380502" "20" "11" "11" "76918497" "76918497" "subst" "0.560737" "02417" "MYO7A_000026" "g.76918497G>A" "" "{PMID:Jaijo 2007:17361009}" "none" "" "Homozygous" "Germline" "" "rs2276290" "0" "" "" "g.77207452G>A" "" "benign" "" "0000380503" "10" "11" "11" "76919865" "76919865" "subst" "0.566049" "02417" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Jaijo 2007:17361009}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000380504" "20" "11" "11" "76919865" "76919865" "subst" "0.566049" "02417" "MYO7A_000025" "g.76919865T>A" "" "{PMID:Jaijo 2007:17361009}" "+SpeI" "" "Homozygous" "Germline" "" "rs1320702" "0" "" "" "g.77208820T>A" "" "benign" "" "0000380505" "10" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02417" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Jaijo 2010:19683999}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380506" "20" "99" "11" "76916607" "76916607" "subst" "0.00000821301" "02417" "MYO7A_000144" "g.76916607C>T" "" "{PMID:Jaijo 2010:19683999}" "" "" "Homozygous" "Germline" "" "rs878864531" "0" "" "" "g.77205562C>T" "" "pathogenic" "" "0000380507" "1" "99" "11" "76901153" "76901153" "subst" "0.0000764877" "02417" "MYO7A_000033" "g.76901153G>A" "" "{PMID:Jaijo 2010:19683