### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PCDH15) # 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}}" "PCDH15" "protocadherin-related 15" "10" "q21.1" "unknown" "NG_009191.3" "UD_132118599259" "{PMID:Bonnet 2016:27460420}" "https://www.LOVD.nl/PCDH15" "KMeyeDB \r\nUSMA (Usher Syndrome Missense Analysis) \r\nDeafness Variation Database \r\nMoBiDiC " "1" "14674" "65217" "605514" "1" "1" "1" "1" "The database is curated by the Montpellier Usher group.
You can directly access the PCDH15 database using: www.LOVD.nl/PCDH15
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/PCDH15_codingDNA.html" "1" "" "
\r\nThis database is one of the ”Retinal and hearing impairment genetic variant databases”." "-1" "" "-1" "00001" "2010-03-02 00:00:00" "00110" "2018-07-20 14:49:34" "00006" "2025-05-14 09:27:40" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00015744" "PCDH15" "transcript variant C" "010" "NM_033056.3" "" "NP_149045.3" "" "" "" "-395" "6626" "5868" "56561051" "55580860" "" "0000-00-00 00:00:00" "" "" "00025927" "PCDH15" "transcript variant R (removed from reference sequence) (removed from reference sequence)" "000" "NM_001384140.1" "" "NP_001371069.1" "" "" "MANE select" "-335" "9031" "5223" "1" "1" "00006" "2024-05-24 11:57:06" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 17 "{{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" "2024-11-23 09:38:12" "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" "02115" "USH1" "Usher syndrome, type I (USH-1)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-11 13:56:28" "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" "02413" "USH1F" "Usher syndrome, type 1F (USH-1F)" "AR" "602083" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02858" "DFNB23" "deafness, autosomal recessive, type 23 (DFNB-23)" "AR" "609533" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04211" "RPar" "retinitis pigmentosa, autosomal recessive (RPar)" "" "" "" "" "" "00006" "2015-02-27 18:58:57" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "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" "05476" "SEMDSP" "dysplasia, spondyloepimetaphyseal, SPONASTRIME type (SEMDSP)" "AR" "271510" "" "autosomal recesive" "" "00006" "2018-10-20 03:14:40" "00006" "2020-05-19 10:37:38" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{geneid}}" "{{diseaseid}}" "PCDH15" "02115" "PCDH15" "02413" "PCDH15" "02858" "PCDH15" "05400" "PCDH15" "05415" "PCDH15" "05458" ## Individuals ## Do not remove or alter this header ## ## Count = 370 "{{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}}" "00059177" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00060237" "" "" "" "1" "" "01542" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "digenic inheritance DFNB2/DFNB23" "" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00080031" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "0" "" "" "" "" "00081034" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00155516" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00165754" "" "" "" "1" "" "02416" "{PMID:Oshima 2008:18429043}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00166131" "" "" "" "1" "" "02416" "" "Proband" "F" "" "France" "" "0" "" "" "" "" "00166132" "" "" "" "1" "" "02416" "{PMID:Doucette 2009:19107147}" "Relative" "F" "" "Canada" "" "0" "" "" "" "" "00166133" "" "" "" "1" "" "02416" "{PMID:Doucette 2009:19107147}" "Relative" "M" "" "Canada" "" "0" "" "" "" "" "00166134" "" "" "" "1" "" "02416" "{PMID:Doucette 2009:19107147}" "Relative" "F" "" "Canada" "" "0" "" "" "" "" "00166135" "" "" "" "1" "" "02416" "{PMID:Doucette 2009:19107147}" "Proband" "F" "" "Canada" "" "0" "" "" "" "" "00166136" "" "" "" "1" "" "02416" "{PMID:Doucette 2009:19107147}" "Relative" "M" "" "Canada" "" "0" "" "" "" "" "00166137" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00166138" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00166139" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00166140" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00166141" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00166142" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00166143" "" "" "" "1" "" "02416" "{PMID:Brownstein 2004:15028842}" "Relative" "F" "" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00166144" "" "" "" "1" "" "02416" "{PMID:Brownstein 2004:15028842}" "Proband" "M" "" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00166145" "" "" "" "1" "" "02416" "{PMID:Brownstein 2004:15028842}" "Relative" "M" "" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00166146" "" "" "" "1" "" "02416" "{PMID:Brownstein 2004:15028842}" "Proband" "M" "" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00166147" "" "" "" "1" "" "02418" "Oshima et al." "Proband - P51 6th Molecular Biology of Hearing and Deafness Conference, Cambridge, 2007" "" "" "United States" "" "0" "" "" "" "" "00166148" "" "" "" "1" "" "02418" "Oshima et al." "Proband - P51 6th Molecular Biology of Hearing and Deafness Conference, Cambridge, 2007" "" "" "Spain" "" "0" "" "" "" "" "00166149" "" "" "" "1" "" "02416" "{PMID:Aller 2010:20538994}, {PMID:Jaijo 2012:22815625}" "Proband" "" "" "Spain" "" "0" "" "" "" "RP-1034" "00166150" "" "" "" "1" "" "02418" "{PMID:Jaijo 2012:22815625}" "Proband - P51 6th Molecular Biology of Hearing and Deafness Conference, Cambridge, 2007" "" "" "Spain" "" "0" "" "" "" "RP-1387" "00166151" "" "" "" "1" "" "02418" "Oshima et al." "Proband - P51 6th Molecular Biology of Hearing and Deafness Conference, Cambridge, 2007" "" "" "United States" "" "0" "" "" "" "" "00166152" "" "" "" "1" "" "02416" "{PMID:Aller 2010:20538994}, {PMID:Jaijo 2012:22815625}" "Proband" "" "" "Spain" "" "0" "" "" "" "RP-367" "00166153" "" "" "" "1" "" "02418" "{PMID:Jaijo 2012:22815625}" "Proband" "" "" "Spain" "" "0" "" "" "" "RP-576M" "00166154" "" "" "" "1" "" "02418" "Oshima et al." "Proband - P51 6th Molecular Biology of Hearing and Deafness Conference, Cambridge, 2007" "" "" "Spain" "" "0" "" "" "" "" "00166155" "" "" "" "1" "" "02418" "Oshima et al." "Proband - P51 6th Molecular Biology of Hearing and Deafness Conference, Cambridge, 2007" "" "" "Spain" "" "0" "" "" "" "" "00166157" "" "" "" "1" "" "02418" "Oshima et al." "Proband - P51 6th Molecular Biology of Hearing and Deafness Conference, Cambridge, 2007" "" "" "Spain" "" "0" "" "" "" "" "00166158" "" "" "" "1" "" "02418" "Oshima et al." "Proband - P51 6th Molecular Biology of Hearing and Deafness Conference, Cambridge, 2007" "" "" "Spain" "" "0" "" "" "" "" "00166159" "" "" "" "1" "" "02418" "{PMID:Jaijo 2012:22815625}" "Proband - Minigene studies in Aparisi et al., 2013" "" "" "Spain" "" "0" "" "" "" "RP-1323" "00166160" "" "" "" "1" "" "02416" "{PMID:Jaijo 2010:19683999}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00166161" "" "" "" "1" "" "02416" "{PMID:Jaijo 2010:19683999}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00166162" "" "" "" "1" "" "02416" "{PMID:Jaijo 2010:19683999}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00166163" "" "" "" "1" "" "02416" "{PMID:Hutchin 2005:16283880}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166164" "" "" "" "1" "" "02416" "{PMID:Ben-Yosef 2003:12711741}" "Proband" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00166165" "" "" "" "1" "" "02416" "{PMID:Ben-Yosef 2003:12711741}" "Relative" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00166166" "" "" "" "1" "" "02416" "{PMID:Ben-Yosef 2003:12711741}" "Relative" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00166167" "" "" "" "1" "" "02416" "{PMID:Ben-Yosef 2003:12711741}" "Relative" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00166168" "" "" "" "1" "" "02416" "{PMID:Ben-Yosef 2003:12711741}" "Proband" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00166169" "" "" "" "1" "" "02416" "{PMID:Ben-Yosef 2003:12711741}" "Relative" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00166170" "" "" "" "1" "" "02416" "{PMID:Ben-Yosef 2003:12711741}" "Relative" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00166171" "" "" "" "1" "" "02416" "{PMID:Ben-Yosef 2003:12711741}" "Relative" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00166172" "" "" "" "1" "" "02416" "{PMID:Ben-Yosef 2003:12711741}" "Proband" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00166173" "" "" "" "1" "" "02416" "{PMID:Ben-Yosef 2003:12711741}" "Proband" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00166174" "" "" "" "1" "" "02416" "{PMID:Ben-Yosef 2003:12711741}" "Proband" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00166175" "" "" "" "1" "" "02416" "{PMID:Ahmed 2001:11398101}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166176" "" "" "" "1" "" "02416" "{PMID:Ahmed 2001:11398101}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166177" "" "" "" "1" "" "02416" "{PMID:Ahmed 2001:11398101}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166178" "" "" "" "1" "" "02416" "{PMID:Ahmed 2001:11398101}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166179" "" "" "" "1" "" "02416" "{PMID:Ahmed 2001:11398101}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166180" "" "" "" "1" "" "02416" "{PMID:Ahmed 2001:11398101}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166181" "" "" "" "1" "" "02416" "{PMID:Ahmed 2001:11398101}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166182" "" "" "" "1" "" "02416" "{PMID:Ahmed 2001:11398101}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166183" "" "" "" "1" "" "02416" "{PMID:Ahmed 2003:14570705}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166184" "" "" "" "1" "" "02416" "{PMID:Ahmed 2003:14570705}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166185" "" "" "" "1" "" "02416" "{PMID:Ahmed 2003:14570705}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166186" "" "" "" "1" "" "02416" "{PMID:Ahmed 2003:14570705}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166187" "" "" "" "1" "" "02416" "{PMID:Ahmed 2003:14570705}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166188" "" "" "" "1" "" "02416" "{PMID:Ahmed 2003:14570705}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166189" "" "" "" "1" "" "02416" "{PMID:Ahmed 2003:14570705}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166190" "" "" "" "1" "" "02416" "{PMID:Ahmed 2003:14570705}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166191" "" "" "" "1" "" "02416" "{PMID:Ahmed 2003:14570705}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166192" "" "" "" "1" "" "02416" "{PMID:Ahmed 2003:14570705}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166193" "" "" "" "1" "" "02416" "{PMID:Ahmed 2003:14570705}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166194" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166195" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166196" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166197" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166198" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166199" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166200" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166201" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166202" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166203" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166204" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166205" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166206" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166207" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166208" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166209" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166210" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166211" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166212" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166213" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166214" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166215" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166216" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166217" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166218" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166219" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166220" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166221" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166222" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166223" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166224" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166225" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166226" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166227" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166228" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166229" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166230" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166231" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166232" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166233" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166234" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166235" "" "" "" "1" "" "02416" "{PMID:Ahmed 2008:18719945}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166236" "" "" "" "1" "" "02416" "{PMID:Alagramam 2001:11487575}" "Proband" "M" "" "United States" "" "0" "" "" "Hutterite" "" "00166237" "" "" "" "1" "" "02416" "{PMID:Alagramam 2001:11487575}" "Relative" "M" "" "United States" "" "0" "" "" "Hutterite" "" "00166238" "" "" "" "1" "" "02416" "{PMID:Alagramam 2001:11487575}" "Proband" "M" "" "India" "" "0" "" "" "" "" "00166239" "" "" "" "1" "" "02416" "{PMID:Alagramam 2001:11487575}" "Relative" "M" "" "India" "" "0" "" "" "" "" "00166240" "" "" "" "1" "" "02416" "{PMID:Alagramam 2001:11487575}" "Relative" "F" "" "India" "" "0" "" "" "" "" "00166241" "" "" "" "1" "" "02416" "{PMID:Alagramam 2001:11487575}" "Relative" "M" "" "India" "" "0" "" "" "" "" "00166242" "" "" "" "1" "" "02416" "{PMID:Alagramam 2001:11487575}" "Relative" "M" "" "India" "" "0" "" "" "" "" "00166243" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00166244" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00166245" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166246" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00166247" "" "" "" "1" "" "02416" "{PMID:Zheng 2005:15537665}" "Proband" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166248" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00166249" "" "" "" "1" "" "02416" "{PMID:Jacobson 2008:18463160}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166250" "" "" "" "1" "" "02416" "{PMID:Baux 2008:18484607}" "Proband - also in Ammar-Khodja et al., 2009" "" "" "Algeria" "" "0" "" "" "" "" "00166467" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "Belgium" "" "0" "" "" "" "" "00166470" "" "" "" "1" "" "02416" "{PMID:Aller 2010:20538994}, {PMID:Jaijo 2012:22815625}" "Proband" "" "" "Spain" "" "0" "" "" "" "RP-982" "00166474" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00166475" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "Italy" "" "0" "" "" "" "" "00166476" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "" "" "France" "" "0" "" "" "" "" "00166477" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00166498" "" "" "" "1" "" "02416" "{PMID:Malm 2010:21174530}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00166510" "" "" "" "1" "" "02416" "{PMID:Duman 2011:21117948}" "Proband" "" "" "Turkey" "" "0" "" "" "" "" "00166511" "" "" "" "1" "" "02416" "{PMID:Duman 2011:21117948}" "Relative" "" "" "Turkey" "" "0" "" "" "" "" "00166512" "" "" "" "1" "" "02416" "{PMID:Duman 2011:21117948}" "Relative" "" "" "Turkey" "" "0" "" "" "" "" "00166525" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "" "00166526" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "" "00166566" "" "" "" "1" "" "02416" "{PMID:Vozzi 2011:21738395}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00166568" "" "" "" "1" "" "02416" "{PMID:Vozzi 2011:21738395}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00166590" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166593" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166594" "" "" "" "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" "" "" "" "" "00166600" "" "" "" "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" "" "" "" "" "00166603" "" "" "" "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" "" "" "" "" "00166611" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166615" "" "" "" "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" "" "" "" "" "00166618" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166622" "" "" "" "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" "" "" "" "" "00166638" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166639" "" "" "" "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" "" "" "" "" "00166642" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166646" "" "" "" "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" "" "" "" "" "00166655" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166660" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166661" "" "" "" "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" "" "" "" "" "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" "" "" "" "" "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" "" "" "" "" "00166673" "" "" "" "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" "" "" "" "" "00166677" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166679" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166681" "" "" "" "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" "" "" "" "" "00166690" "" "" "" "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" "" "" "" "" "00166702" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166704" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166713" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166727" "" "" "" "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" "" "" "" "" "00166739" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166740" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166746" "" "" "" "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" "" "" "" "" "00166752" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166754" "" "" "" "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" "" "" "" "" "00166894" "" "" "" "1" "" "02416" "{PMID:Neveling 2012:22334370}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166907" "" "" "" "1" "" "02416" "{PMID:Neveling 2012:22334370}" "Proband" "F" "" "" "" "0" "" "" "" "" "00167050" "" "" "" "1" "" "02416" "{PMID:Jaijo 2012:22815625}" "Proband - Minigene studies in Aparisi et al., 2013" "" "" "Spain" "" "0" "" "" "" "RP-219" "00167051" "" "" "" "1" "" "02416" "{PMID:Jaijo 2012:22815625}" "Proband - Minigene studies in Aparisi et al., 2013" "" "" "Spain" "" "0" "" "" "" "RP-1286" "00167139" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "M" "" "Spain" "" "0" "" "" "" "" "00167140" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "F" "" "" "" "0" "" "" "" "" "00167147" "" "" "" "1" "" "02416" "{PMID:Glöcke 2013:23591405}" "Proband" "" "" "" "" "0" "" "" "" "" "00167154" "" "" "" "1" "" "02416" "{PMID:Yang 2013:23767834}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167155" "" "" "" "1" "" "02416" "{PMID:Yang 2013:23767834}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167156" "" "" "" "1" "" "02416" "{PMID:Yang 2013:23767834}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167238" "" "" "" "1" "" "00143" "{PMID:Krawitz 2014:25333064}" "Proband" "M" "" "Germany" "" "0" "" "" "" "" "00167281" "" "" "" "1" "" "02416" "{PMID:Mutai 2013:24164807}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167282" "" "" "" "1" "" "02416" "{PMID:Mutai 2013:24164807}" "Relative" "F" "" "Japan" "" "0" "" "" "" "" "00167283" "" "" "" "1" "" "02416" "{PMID:Mutai 2013:24164807}" "Relative" "F" "" "Japan" "" "0" "" "" "" "" "00167301" "" "" "" "1" "" "02416" "{PMID:Yoshimura 2014:24618850}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167302" "" "" "" "1" "" "02416" "{PMID:Yoshimura 2014:24618850}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167303" "" "" "" "1" "" "02416" "{PMID:Yoshimura 2014:24618850}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167304" "" "" "" "1" "" "02416" "{PMID:Yoshimura 2014:24618850}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167305" "" "" "" "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" "" "" "" "" "00167648" "" "" "" "1" "" "02416" "{PMID:Aparisi 2014:25404053}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00167651" "" "" "" "1" "" "02416" "{PMID:Aparisi 2014:25404053}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00167668" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00167669" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Relative" "M" "" "United States" "" "0" "" "" "" "" "00167673" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00167684" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167685" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167703" "" "" "" "1" "" "02416" "{PMID:Lenarduzzi 2015:25575603}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00167706" "" "" "" "1" "" "02416" "{PMID:Lenarduzzi 2015:25575603}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00167731" "" "" "" "1" "" "02416" "{PMID:Zhan 2015:25930172}" "Proband" "M" "" "China" "" "0" "" "" "" "" "00167732" "" "" "" "1" "" "02416" "{PMID:Zhan 2015:25930172}" "Relative" "M" "" "China" "" "0" "" "" "" "" "00167733" "" "" "" "1" "" "02416" "{PMID:Zhan 2015:25930172}" "Relative" "M" "" "China" "" "0" "" "" "" "" "00167734" "" "" "" "1" "" "02416" "{PMID:Zhan 2015:25930172}" "Relative" "M" "" "China" "" "0" "" "" "" "" "00167763" "" "" "" "1" "" "02416" "{PMID:Jiang 2015:26338283}" "Proband" "M" "" "China" "" "0" "" "" "" "" "00167807" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Slovenia" "" "0" "" "" "" "" "00167808" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Slovenia" "" "0" "" "" "" "" "00167809" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Slovenia" "" "0" "" "" "" "" "00167810" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Slovenia" "" "0" "" "" "" "" "00167811" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Spain" "" "0" "" "" "" "" "00167812" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167813" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167814" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Germany" "" "0" "" "" "" "" "00167815" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167816" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167817" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167818" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Italy" "" "0" "" "" "" "" "00167853" "" "" "" "1" "" "02428" "{PMID:Abdi 2016:27583663}" "Proband" "F" "" "Algeria" "" "0" "" "" "" "" "00168034" "" "" "" "1" "" "02430" "{PMID:Ivanova 2018:30358468}" "Proband" "F" "" "Ukraine" "" "0" "" "" "" "Pat10" "00225452" "" "" "" "1" "" "00006" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Brazil" "" "0" "" "" "African black;non-Latin European" "-Pat4" "00267037" "" "" "" "1" "" "00110" "{PMID:Vaché 2020:32714370}, {DOI:Vaché 2020:10.3389/fgene.2020.00623}" "" "F" "no" "France" "" "0" "" "" "" "patient" "00269123" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00290059" "" "" "" "25" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290060" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290061" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290062" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290063" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290064" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290065" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290066" "" "" "" "216" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290067" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304248" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308528" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308731" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00308732" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00308791" "" "" "" "3" "" "00004" "{PMID:Santana 2019:31231422}" "2-generation family, 3 affected (2F, M), unaffected parents" "" "" "Cuba" "" "0" "" "" "white" "FamUS-10" "00309282" "" "" "" "5" "" "00004" "{PMID:Sharon 2019:31456290}" "5 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309592" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP2007" "00331309" "" "" "" "1" "" "00000" "{PMID:Chen 2018:29692870}" "" "" "" "China" "" "0" "" "" "Uyghur" "FamJ08" "00331310" "" "" "" "1" "" "00000" "{PMID:Chen 2018:29692870}" "" "" "" "China" "" "0" "" "" "Uyghur" "FamJ13" "00331615" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19230" "00331616" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19261" "00331617" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "yes" "China" "" "0" "" "" "" "19722" "00331618" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19946" "00331619" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19791" "00331632" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19144" "00331708" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "" "" "" "China" "" "0" "" "" "" "19493" "00333355" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat15" "00333361" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat1" "00333364" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat4" "00333648" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "538" "00334013" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "531" "00334014" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "532" "00334015" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "533" "00334016" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "534" "00334017" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "M" "" "(United States)" "" "0" "" "" "" "535" "00334018" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "536" "00334019" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "537" "00335340" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Spain" "" "0" "" "" "" "Pat99" "00335984" "" "" "" "2" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 486 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00335985" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 486 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00335986" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 486 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00335987" "" "" "" "5" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 486 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00358829" "" "" "" "2" "" "00000" "{PMID:Ben-Rebeh 2016:27440999}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "" "yes" "Tunisia" "" "0" "" "" "" "USHTF4" "00358949" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71674" "00358972" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case70559" "00359118" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "12002962" "00361426" "" "" "" "1" "" "04036" "{PMID:Xu 2014:24938718}" "index case" "M" "no" "China" "" "0" "" "" "Asia" "RP405" "00363223" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "yes" "Syria;Turkey" "" "0" "" "" "" "Pat7" "00363224" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "yes" "Syria" "" "0" "" "" "" "Pat8" "00372513" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "728" "00372517" "" "" "" "2" "" "00006" "{PMID:Chen 2015:26011067}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "China" "" "0" "" "" "Uyghur" "KLX213" "00372523" "" "" "" "1" "" "00006" "{PMID:Xu 2015:25999675}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "China" "" "0" "" "" "" "RP403" "00372683" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP396" "00373464" "" "" "" "1" "" "00006" "{PMID:Kikuchi 2015:25692141Kikuchi 2015}" "4-generation family, 1 affected" "F" "" "Japan" "" "0" "" "" "" "patient" "00375413" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#005" "00375428" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#022" "00376863" "" "" "" "1" "" "00000" "{PMID:Coppieters 2014:24625443}" "see paper" "" "" "" "" "0" "" "" "" "Fam11" "00379620" "" "" "" "1" "" "00000" "{PMID:Nishiguchi-2012:22848652}" "" "" "" "" "" "0" "" "" "Chinese" "" "00379623" "" "" "" "1" "" "00000" "{PMID:Nishiguchi-2012:22848652}" "" "" "" "" "" "0" "" "" "Luhya" "" "00379705" "" "" "" "1" "" "00000" "{PMID:Wan 2018:30245926}" "" "?" "" "China" "" "0" "" "" "Han Chinese" "R0018" "00379850" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "F" "?" "China" "" "0" "" "" "Han Chinese" "2016102401" "00380215" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP92, II:2" "?" "no" "Spain" "" "0" "" "" "" "II:2" "00380861" "" "" "" "1" "" "00000" "{PMID:Perez-Carro 2018:29912909}" "family RP-0004" "M" "no" "Spain" "" "0" "" "" "" "RP-0004" "00382243" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "72" "00382570" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "432" "00382571" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "433" "00385136" "" "" "" "1" "" "00000" "{PMID:Jiman 2020:31836858}" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "8" "00386829" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI635_001299" "00387110" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "F" "" "(United States)" "" "0" "" "" "white" "136" "00388473" "" "" "" "1" "" "00000" "{PMID:Ellingford 2017:28378820}, {PMID:Ellingsford 2018:29074561}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15010972" "00388734" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 10, Usher syndrome type I, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "18" "00388786" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 35, Usher syndrome type I, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "70" "00388795" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 40, Usher syndrome type I, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "79" "00388872" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 64, Usher syndrome type I, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "156" "00388873" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 64, Usher syndrome type I, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "157" "00390476" "" "" "" "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" "" "" "" "G001026" "00391371" "" "" "" "1" "" "00000" "{PMID:Méjécase 2020:3278337" "" "?" "" "United Arab Emirates" "" "0" "" "" "" "39" "00391493" "" "" "" "1" "" "00000" "{PMID:Zheng 2020:32835555}" "" "?" "" "China" "" "0" "" "" "" "II:2" "00393585" "" "" "" "1" "" "00000" "{PMID:Liujalopez2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393649" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393671" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393964" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00393988" "" "" "" "1" "" "00000" "{PMID:Fuster-Garcia-2019:31725169}" "" "" "" "" "" "0" "" "" "Spanish" "" "00394712" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394713" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "?" "" "" "0" "" "" "" "" "00395812" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F052" "00395915" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F205" "00396239" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396240" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396268" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396269" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396292" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396293" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396294" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396417" "" "" "" "1" "" "00006" "{PMID:Ellingford 2016:26872967}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "12002355" "00408990" "" "" "" "1" "" "00000" "{PMID:Saleha 2016:27275418}" "" "M" "" "Pakistan" "" "0" "" "" "" "III:2" "00408991" "" "" "" "1" "" "00000" "{PMID:Saleha 2016:27275418}" "" "F" "" "Pakistan" "" "0" "" "" "" "III:3" "00408992" "" "" "" "1" "" "00000" "{PMID:Saleha 2016:27275418}" "" "M" "" "Pakistan" "" "0" "" "" "" "III:4" "00408993" "" "" "" "1" "" "00000" "{PMID:Saleha 2016:27275418}" "" "F" "" "Pakistan" "" "0" "" "" "" "III:6" "00413662" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "" "" "" "" "" "00420428" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F052" "00420516" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F205" "00430927" "" "" "" "1" "" "04091" "{PMID:Velde 2022:35226187}, {DOI:Velde 2022: 10.1007/s00439-022-02441-0}, {PMID:de Bruijn 2023:36524988}" "" "M" "" "Ireland" "" "0" "" "" "white" "PatD;071951" "00441345" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF627" "00441346" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1440" "00441347" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1499" "00441348" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4711" "00443407" "" "" "" "1" "" "00006" "{PMID:Redfield 2023:37873491}, {DOI:Redfield 2023:10.1101/2023.10.08.23296081}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "United States" "" "0" "" "" "" "Fam2" "00446959" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "ADRP-516" "00447001" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "M" "" "Germany" "" "0" "" "" "" "ARRP-456" "00447401" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "M" "" "Germany" "" "0" "" "" "" "USHI-21" "00447405" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "USHI-78" "00447406" "" "" "" "3" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 3 affected" "M" "" "Germany" "" "0" "" "" "" "USHI-79" "00447411" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "USHI-88" "00447438" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "USHII-361" "00447497" "" "" "00447496" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "relative" "M" "" "Germany" "" "0" "" "" "" "ARRP-331-2" "00447594" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-867" "00449983" "" "" "" "1" "" "02230" "{PMID:Zeuli 2024:38816995}" "" "M" "" "Italy" "" "0" "" "" "white" "Pt-21" "00465320" "" "" "" "2" "" "04847" "" "" "M" "no" "China" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 370 "{{individualid}}" "{{diseaseid}}" "00059177" "00531" "00060237" "02283" "00080031" "05103" "00081034" "02858" "00155516" "02115" "00165754" "02115" "00166131" "02115" "00166132" "05400" "00166133" "05400" "00166134" "05400" "00166135" "05400" "00166136" "05400" "00166137" "02115" "00166138" "02115" "00166139" "02115" "00166140" "02115" "00166141" "02115" "00166142" "02115" "00166143" "02115" "00166144" "02115" "00166145" "02115" "00166146" "02115" "00166147" "02115" "00166148" "02115" "00166149" "02115" "00166150" "02115" "00166151" "02115" "00166152" "02115" "00166153" "02115" "00166154" "02115" "00166155" "02115" "00166157" "02115" "00166158" "02115" "00166159" "02115" "00166160" "05459" "00166161" "02115" "00166162" "02115" "00166163" "05400" "00166164" "02115" "00166165" "02115" "00166166" "05400" "00166167" "05400" "00166168" "02115" "00166169" "02115" "00166170" "02115" "00166171" "02115" "00166172" "02115" "00166173" "02115" "00166174" "02115" "00166175" "02115" "00166176" "02115" "00166177" "02115" "00166178" "02115" "00166179" "02115" "00166180" "02115" "00166181" "02115" "00166182" "02115" "00166183" "05400" "00166184" "05400" "00166185" "05400" "00166186" "05400" "00166187" "05400" "00166188" "05400" "00166189" "05400" "00166190" "05400" "00166191" "02115" "00166192" "02115" "00166193" "02115" "00166194" "02115" "00166195" "02115" "00166196" "02115" "00166197" "02115" "00166198" "02115" "00166199" "02115" "00166200" "02115" "00166201" "02115" "00166202" "02115" "00166203" "05400" "00166204" "05400" "00166205" "05400" "00166206" "02115" "00166207" "02115" "00166208" "02115" "00166209" "02115" "00166210" "02115" "00166211" "02115" "00166212" "02115" "00166213" "02115" "00166214" "02115" "00166215" "02115" "00166216" "02115" "00166217" "02115" "00166218" "02115" "00166219" "02115" "00166220" "02115" "00166221" "02115" "00166222" "02115" "00166223" "02115" "00166224" "02115" "00166225" "02115" "00166226" 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"05400" "00167155" "05400" "00167156" "05400" "00167238" "05414" "00167281" "05458" "00167282" "05458" "00167283" "05458" "00167301" "02115" "00167302" "02115" "00167303" "02115" "00167304" "02115" "00167305" "02115" "00167306" "02115" "00167441" "05414" "00167442" "02115" "00167443" "02115" "00167648" "02115" "00167651" "02115" "00167668" "02115" "00167669" "02115" "00167673" "02115" "00167684" "02115" "00167685" "02115" "00167703" "02115" "00167706" "02115" "00167731" "05400" "00167732" "05400" "00167733" "05400" "00167734" "05400" "00167763" "02115" "00167807" "02115" "00167808" "02115" "00167809" "02115" "00167810" "02115" "00167811" "02115" "00167812" "02115" "00167813" "02115" "00167814" "02115" "00167815" "02115" "00167816" "02115" "00167817" "02115" "00167818" "02115" "00167853" "02115" "00168034" "02115" "00225452" "05476" "00267037" "02413" "00269123" "00198" "00290059" "00198" "00290060" "00198" "00290061" "00198" "00290062" "00198" "00290063" "00198" "00290064" "00198" "00290065" "00198" "00290066" "00198" "00290067" "00198" "00304248" "00198" "00308528" "04214" "00308731" "00000" "00308732" "00000" "00308791" "05415" "00309282" "04214" "00309592" "04214" "00331309" "05086" "00331310" "05086" "00331615" "05086" "00331616" "05086" "00331617" "05086" "00331618" "05086" "00331619" "05086" "00331632" "05086" "00331708" "05086" "00333355" "04214" "00333361" "04214" "00333364" "04214" "00333648" "04214" "00334013" "04214" "00334014" "04214" "00334015" "04214" "00334016" "04214" "00334017" "04214" "00334018" "04214" "00334019" "04214" "00335340" "04214" "00335984" "04214" "00335985" "04214" "00335986" "04214" "00335987" "04214" "00358829" "04214" "00358949" "04214" "00358972" "04214" "00359118" "04214" "00361426" "04214" "00363223" "05415" "00363224" "05415" "00372513" "04214" "00372517" "05086" "00372523" "04214" "00372683" "04214" "00373464" "04214" "00375413" "04214" "00375428" "04214" "00376863" "04214" "00379620" "00000" "00379623" "00000" "00379705" 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"00447406" "00198" "00447411" "00198" "00447438" "00198" "00447497" "00198" "00447594" "00198" "00449983" "04214" "00465320" "02413" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00531, 02115, 02283, 02413, 02858, 04211, 04214, 05086, 05103, 05400, 05414, 05415, 05458, 05459, 05476 ## Count = 355 "{{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}}" "0000046724" "02283" "00060237" "01542" "Complex" "" "di-genic inheritance; congenital, profound" "" "" "" "" "" "" "" "" "" "" "" "0000060262" "05103" "00080031" "01740" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060603" "02858" "00081034" "01758" "Familial, autosomal recessive" "" "Deafness, autosomal recessive 23 (OMIM:609533)" "" "" "" "" "" "" "" "" "" "" "" "0000128016" "02115" "00155516" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130618" "02115" "00165754" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130995" "02115" "00166131" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130996" "05400" "00166132" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000130997" "05400" "00166133" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000130998" "05400" "00166134" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000130999" "05400" "00166135" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000131000" "05400" "00166136" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000131001" "02115" "00166137" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131002" "02115" "00166138" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131003" "02115" "00166139" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131004" "02115" "00166140" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131005" "02115" "00166141" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131006" "02115" "00166142" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131007" "02115" "00166143" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131008" "02115" "00166144" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131009" "02115" "00166145" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131010" "02115" "00166146" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131011" "02115" "00166147" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131012" "02115" "00166148" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131013" "02115" "00166149" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131014" "02115" "00166150" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131015" "02115" "00166151" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131016" "02115" "00166152" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131017" "02115" "00166153" "02418" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131018" "02115" "00166154" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131019" "02115" "00166155" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131021" "02115" "00166157" "02418" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131022" "02115" "00166158" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131023" "02115" "00166159" "02418" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131024" "05459" "00166160" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131025" "02115" "00166161" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131026" "02115" "00166162" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131027" "05400" "00166163" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000131028" "02115" "00166164" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131029" "02115" "00166165" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131030" "05400" "00166166" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000131031" "05400" "00166167" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000131032" "02115" "00166168" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131033" "02115" "00166169" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131034" "02115" "00166170" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131035" "02115" "00166171" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131036" "02115" "00166172" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131037" "02115" "00166173" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131038" "02115" "00166174" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131039" "02115" "00166175" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131040" "02115" "00166176" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131041" "02115" "00166177" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131042" "02115" "00166178" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131043" "02115" "00166179" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131044" "02115" "00166180" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131045" "02115" "00166181" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131046" "02115" "00166182" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131047" "05400" "00166183" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000131048" "05400" "00166184" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000131049" "05400" "00166185" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000131050" "05400" "00166186" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000131051" "05400" "00166187" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000131052" "05400" "00166188" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000131053" "05400" "00166189" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000131054" "05400" "00166190" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000131055" "02115" "00166191" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131056" "02115" "00166192" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131057" "02115" "00166193" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131058" "02115" "00166194" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131059" "02115" "00166195" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131060" "02115" "00166196" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131061" "02115" "00166197" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131062" "02115" "00166198" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131063" "02115" "00166199" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131064" "02115" "00166200" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131065" "02115" "00166201" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131066" "02115" "00166202" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131067" "05400" "00166203" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000131068" "05400" "00166204" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000131069" "05400" "00166205" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000131070" "02115" "00166206" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131071" "02115" "00166207" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131072" "02115" "00166208" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131073" "02115" "00166209" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131074" "02115" "00166210" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131075" "02115" "00166211" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131076" "02115" "00166212" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131077" "02115" "00166213" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131078" "02115" "00166214" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131079" "02115" "00166215" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131080" "02115" "00166216" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131081" "02115" "00166217" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131082" "02115" "00166218" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131083" "02115" "00166219" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131084" "02115" "00166220" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131085" "02115" "00166221" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131086" "02115" "00166222" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131087" "02115" "00166223" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131088" "02115" "00166224" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131089" "02115" "00166225" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131090" "02115" "00166226" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131091" "02115" "00166227" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131092" "02115" "00166228" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131093" "02115" "00166229" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131094" "02115" "00166230" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131095" "02115" "00166231" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131096" "02115" "00166232" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131097" "02115" "00166233" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131098" "02115" "00166234" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131099" "02115" "00166235" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131100" "02115" "00166236" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131101" "02115" "00166237" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131102" "02115" "00166238" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131103" "02115" "00166239" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131104" "02115" "00166240" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131105" "02115" "00166241" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131106" "02115" "00166242" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131107" "02115" "00166243" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131108" "02115" "00166244" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131109" "02115" "00166245" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131110" "02115" "00166246" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131111" "02115" "00166247" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131112" "02115" "00166248" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131113" "02115" "00166249" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131114" "02115" "00166250" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131331" "02115" "00166467" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131334" "02115" "00166470" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131338" "02115" "00166474" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131339" "02115" "00166475" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131340" "02115" "00166476" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131341" "02115" "00166477" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131362" "02115" "00166498" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131374" "05400" "00166510" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000131375" "05400" "00166511" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000131376" "05400" "00166512" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000131389" "02115" "00166525" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131390" "02115" "00166526" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131430" "02115" "00166566" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131432" "02115" "00166568" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131454" "05414" "00166590" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131457" "05414" "00166593" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131458" "05414" "00166594" "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" "" "0000131464" "02115" "00166600" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131466" "05459" "00166602" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131467" "05459" "00166603" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131471" "05414" "00166607" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131475" "02115" "00166611" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131479" "05415" "00166615" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000131480" "02115" "00166616" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131481" "02115" "00166617" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131482" "02115" "00166618" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131486" "02115" "00166622" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131492" "02115" "00166628" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131493" "05414" "00166629" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131502" "05414" "00166638" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131503" "05414" "00166639" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131504" "02115" "00166640" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131506" "05414" "00166642" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131510" "05414" "00166646" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131517" "05414" "00166653" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131518" "05414" "00166654" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131519" "05415" "00166655" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000131524" "05414" "00166660" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131525" "05414" "00166661" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131527" "02115" "00166663" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131531" "02115" "00166667" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131532" "02115" "00166668" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131534" "05414" "00166670" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131536" "05414" "00166672" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131537" "02115" "00166673" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131539" "05414" "00166675" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131541" "05414" "00166677" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131543" "05414" "00166679" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131545" "05414" "00166681" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131548" "05414" "00166684" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131554" "05414" "00166690" "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" "" "0000131566" "05414" "00166702" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131568" "05414" "00166704" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131577" "05414" "00166713" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131591" "05414" "00166727" "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" "" "0000131603" "05414" "00166739" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131604" "05414" "00166740" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131610" "05414" "00166746" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131612" "02115" "00166748" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131614" "05414" "00166750" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131616" "02115" "00166752" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131618" "05414" "00166754" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131622" "02115" "00166758" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131758" "04211" "00166894" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131771" "04211" "00166907" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131914" "02115" "00167050" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131915" "02115" "00167051" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132003" "05458" "00167139" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132004" "05458" "00167140" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132011" "02115" "00167147" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132018" "05400" "00167154" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000132019" "05400" "00167155" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000132020" "05400" "00167156" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000132102" "05414" "00167238" "00143" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132145" "05458" "00167281" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132146" "05458" "00167282" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132147" "05458" "00167283" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132165" "02115" "00167301" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132166" "02115" "00167302" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132167" "02115" "00167303" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132168" "02115" "00167304" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132169" "02115" "00167305" "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" "" "0000132512" "02115" "00167648" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132515" "02115" "00167651" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132532" "02115" "00167668" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132533" "02115" "00167669" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132537" "02115" "00167673" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132548" "02115" "00167684" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132549" "02115" "00167685" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132567" "02115" "00167703" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132570" "02115" "00167706" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132595" "05400" "00167731" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000132596" "05400" "00167732" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000132597" "05400" "00167733" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000132598" "05400" "00167734" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-23" "deafness" "" "0000132627" "02115" "00167763" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132671" "02115" "00167807" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132672" "02115" "00167808" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132673" "02115" "00167809" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132674" "02115" "00167810" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132675" "02115" "00167811" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132676" "02115" "00167812" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132677" "02115" "00167813" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132678" "02115" "00167814" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132679" "02115" "00167815" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132680" "02115" "00167816" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132681" "02115" "00167817" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132682" "02115" "00167818" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132717" "02115" "00167853" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132898" "02115" "00168034" "02430" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "USH1F" "Usher syndrome" "" "0000170567" "05476" "00225452" "00006" "Familial, autosomal recessive" "2y2m" "see paper; …" "" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "" "0000204967" "02413" "00267037" "00110" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH1F" "USH1" "" "0000206968" "00198" "00269123" "01807" "Unknown" "" "Hearing impairment (HP:0000365); Rod-cone dystrophy (HP:0000510)" "" "" "" "" "" "" "" "" "" "" "" "0000233956" "04214" "00308528" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234113" "05415" "00308791" "00004" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "USH2" "" "0000234602" "04214" "00309282" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234912" "04214" "00309592" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000249503" "05086" "00331309" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000249504" "05086" "00331310" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000249807" "05086" "00331615" "00000" "Familial, autosomal recessive" "19y" "profound hearing loss (acouophone or cochlear implant)" "<1y" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000249808" "05086" "00331616" "00000" "Familial, autosomal recessive" "16y" "profound hearing loss (acouophone or cochlear implant)" "<1y" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000249809" "05086" "00331617" "00000" "Familial, autosomal recessive" "27y" "profound hearing loss" "<1y" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000249810" "05086" "00331618" "00000" "Familial, autosomal recessive" "8y" "profound hearing loss (acouophone or cochlear implant)" "<1y" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000249811" "05086" "00331619" "00000" "Familial, autosomal recessive" "7y" "profound hearing loss (acouophone or cochlear implant)" "1y" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000249824" "05086" "00331632" "00000" "Familial, autosomal recessive" "36y" "" "3y" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000249900" "05086" "00331708" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000251542" "04214" "00333355" "00000" "Familial, autosomal dominant" "53y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251548" "04214" "00333361" "00000" "Unknown" "43y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251551" "04214" "00333364" "00000" "Unknown" "17y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251832" "04214" "00333648" "00000" "Familial, autosomal recessive" "14y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252198" "04214" "00334013" "00000" "Familial, autosomal recessive" "32y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252199" "04214" "00334014" "00000" "Familial, autosomal recessive" "15y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252200" "04214" "00334015" "00000" "Familial, autosomal recessive" "58y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252201" "04214" "00334016" "00000" "Familial, autosomal recessive" "46y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252202" "04214" "00334017" "00000" "Familial, autosomal recessive" "43y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252203" "04214" "00334018" "00000" "Familial, autosomal recessive" "19y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252204" "04214" "00334019" "00000" "Familial, autosomal recessive" "50y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000253054" "04214" "00335340" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253899" "04214" "00335984" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000253900" "04214" "00335985" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000253901" "04214" "00335986" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000253902" "04214" "00335987" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000254044" "04214" "00358829" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Usher syndrome type 1" "" "0000254247" "04214" "00358949" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy, DD: retinitis pigmentosa" "" "0000254270" "04214" "00358972" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Best macular dystrophy" "" "0000254415" "04214" "00359118" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000256831" "04214" "00361426" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.2, OS = 0.2. ERG: Not performed." "55y" "" "Poor vision" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258588" "05415" "00363223" "00000" "Familial, autosomal recessive" "30y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258589" "05415" "00363224" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000267828" "04214" "00372513" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267832" "05086" "00372517" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000267837" "04214" "00372523" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000267962" "04214" "00372683" "00000" "Familial, X-linked" "40y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268740" "04214" "00373464" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000270627" "04214" "00375413" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270642" "04214" "00375428" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272074" "04214" "00376863" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000273550" "04214" "00379705" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "high myopia" "" "0000273704" "04214" "00379850" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000274070" "04214" "00380215" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000274714" "04214" "00380861" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa 39" "" "0000276092" "04214" "00382243" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Aland eye disease" "" "0000276419" "04214" "00382570" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone dystrophy" "" "0000276420" "04214" "00382571" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000278932" "04214" "00385136" "00000" "Familial, autosomal recessive" "16y6m" "HP:0008527 Congenital sensorineural hearing impairment; HP:0000510 Rod-cone dystrophy; HP:0001249 Intellectual disability" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000280629" "04214" "00386829" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280888" "04214" "00387110" "00000" "Familial, autosomal recessive" "12y" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "" "0000282025" "04214" "00388473" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000282275" "04214" "00388734" "00000" "Familial, autosomal recessive" "38y" "age at genetic diagnosis mentioned" "" "31y" "" "" "" "" "" "" "Usher syndrome type I" "" "" "0000282327" "04214" "00388786" "00000" "Familial, autosomal recessive" "78y" "age at genetic diagnosis mentioned" "" "70y" "" "" "" "" "" "" "Usher syndrome type I" "" "" "0000282336" "04214" "00388795" "00000" "Familial, autosomal recessive" "18y" "age at genetic diagnosis mentioned" "" "16y" "" "" "" "" "" "" "Usher syndrome type I" "" "" "0000282413" "04214" "00388872" "00000" "Familial, autosomal recessive" "15y" "age at genetic diagnosis mentioned" "" "12y" "" "" "" "" "" "" "Usher syndrome type I" "" "" "0000282414" "04214" "00388873" "00000" "Familial, autosomal recessive" "7y" "age at genetic diagnosis mentioned" "" "4y" "" "" "" "" "" "" "Usher syndrome type I" "" "" "0000284014" "04214" "00390476" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "0000284811" "04214" "00391371" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 1F (602083)" "Usher syndrome, type 1F (602083)" "" "0000284830" "04214" "00391493" "00000" "Di-genic" "23y" "congenital sensorineural deafness, night blindness worsening for 5 years" "1y" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000286791" "04214" "00393585" "00000" "Familial, X-linked" "63y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286855" "04214" "00393649" "00000" "Isolated (sporadic)" "40y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286877" "04214" "00393671" "00000" "Familial, X-linked" "47y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287170" "04214" "00393964" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287194" "04214" "00393988" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000287915" "04214" "00394712" "00000" "Familial, autosomal recessive" "18y" "" "5y" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000287916" "04214" "00394713" "00000" "Familial, autosomal recessive" "22y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000288974" "04214" "00395812" "00000" "Unknown" "32y7m" "" "30y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289077" "04214" "00395915" "00000" "Unknown" "6m" "error, age of onset and age were probably switched" "1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000289401" "04214" "00396239" "00000" "Familial, autosomal recessive" "56y8m" "atypical vestibular findings, Moderate hearing loss, Absent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289402" "04214" "00396240" "00000" "Familial, autosomal recessive" "19y4m" "atypical vestibular findings, Profound hearing loss, Low sinusoidal harmonic accelerationAbsent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289430" "04214" "00396268" "00000" "Familial, autosomal recessive" "56y8m" "atypical vestibular findings, Moderate hearing loss, Absent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289431" "04214" "00396269" "00000" "Familial, autosomal recessive" "19y4m" "atypical vestibular findings, Profound hearing loss, Low sinusoidal harmonic accelerationAbsent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289454" "04214" "00396292" "00000" "Familial, autosomal recessive" "61y4m" "typical vestibular findings, Profound hearing loss," "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289455" "04214" "00396293" "00000" "Familial, autosomal recessive" "38y4m" "typical vestibular findings, Profound hearing loss, Absent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289456" "04214" "00396294" "00000" "Familial, autosomal recessive" "41y10m" "typical vestibular findings, Profound hearing loss, Absent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289579" "04214" "00396417" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000301108" "05415" "00408990" "00000" "Familial, autosomal recessive" "15y" "hearing loss: congenital, bilateral and profound; vestibular balance: disturbed; blindness: profound" "" "" "" "" "" "" "" "" "Usher syndrome (USH)" "" "" "0000301109" "05415" "00408991" "00000" "Familial, autosomal recessive" "13y" "hearing loss: congenital, bilateral and profound; vestibular balance: disturbed; blindness: profound" "" "" "" "" "" "" "" "" "Usher syndrome (USH)" "" "" "0000301110" "05415" "00408992" "00000" "Familial, autosomal recessive" "11y" "hearing loss: congenital, bilateral and profound; vestibular balance: disturbed; blindness: progressive" "" "" "" "" "" "" "" "" "Usher syndrome (USH)" "" "" "0000301111" "05415" "00408993" "00000" "Familial, autosomal recessive" "10y" "hearing loss: congenital, bilateral and profound; vestibular balance: disturbed; blindness: progressive" "" "" "" "" "" "" "" "" "Usher syndrome (USH)" "" "" "0000305627" "02413" "00413662" "01741" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311676" "04214" "00420428" "00000" "Familial, autosomal recessive" "32y7m" "" "30y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000311764" "04214" "00420516" "00000" "Familial, autosomal recessive" "6m" "" "1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000321536" "04214" "00430927" "04091" "Familial, autosomal recessive" "87y" "see paper" "" "" "" "" "" "" "" "" "USH4" "Usher syndrome" "" "0000330785" "05086" "00441345" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330786" "05086" "00441346" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330787" "05086" "00441347" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330788" "05086" "00441348" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000332748" "05086" "00443407" "00006" "Familial, autosomal recessive" "<10y" "see paper; ..., moderate to severe congenital bilateral sensorineural hearing loss" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000336158" "00198" "00446959" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" "0000336200" "00198" "00447001" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336600" "00198" "00447401" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000336604" "00198" "00447405" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000336605" "00198" "00447406" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000336610" "00198" "00447411" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000336637" "00198" "00447438" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000336696" "00198" "00447497" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336793" "00198" "00447594" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000339043" "04214" "00449983" "02230" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "USH1F" "retinal disease" "" "0000350872" "02413" "00465320" "04847" "Familial, autosomal recessive" "26y" "congenital bilateral hearing loss and first began to experience night blindness when the proband was about 10 years old" "congenital" "26y" "congenital" "We" "" "" "" "" "USH1F" "USH" "" ## Screenings ## Do not remove or alter this header ## ## Count = 370 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000059160" "00059177" "1" "01551" "01551" "2016-02-29 16:18:25" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000060223" "00060237" "1" "01542" "01542" "2016-03-15 13:28:22" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000080110" "00080031" "1" "01740" "01740" "2016-09-01 12:58:43" "" "" "SEQ-NG" "DNA" "" "" "0000081146" "00081034" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000156381" "00155516" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000166633" "00165754" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000167010" "00166131" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2010-10-15 17:29:22" "SEQ" "DNA" "" "" "0000167011" "00166132" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000167012" "00166133" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000167013" "00166134" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000167014" "00166135" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2012-03-15 16:33:22" "SEQ" "DNA" "" "" "0000167015" "00166136" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000167016" "00166137" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2010-09-13 15:12:35" "SEQ" "DNA" "" "" "0000167017" "00166138" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2010-09-13 15:12:35" "SEQ" "DNA" "" "" "0000167018" "00166139" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2010-09-13 15:12:35" "SEQ" "DNA" "" "" "0000167019" "00166140" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2010-09-13 15:12:35" "SEQ" "DNA" "" "" "0000167020" "00166141" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2010-10-15 17:38:31" "SEQ" "DNA" "" "" "0000167021" "00166142" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2010-10-15 17:38:31" "SEQ" "DNA" "" "" "0000167022" "00166143" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2012-04-06 17:36:01" "SEQ" "DNA" "" "" "0000167023" "00166144" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2012-04-06 17:36:01" "SEQ" "DNA" "" "" "0000167024" "00166145" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2012-04-06 17:36:01" "SEQ" "DNA" "" "" "0000167025" "00166146" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2012-04-06 17:36:01" "SEQ" "DNA" "" "" "0000167026" "00166147" "1" "02418" "02418" "2010-03-05 11:21:07" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000167027" "00166148" "1" "02418" "02418" "2010-03-05 11:21:07" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000167028" "00166149" "1" "02416" "02416" "2010-09-14 17:19:12" "00110" "2015-02-02 16:55:04" "arrayCGH;MLPA;SEQ" "DNA" "" "" "0000167029" "00166150" "1" "02418" "02418" "2010-03-05 11:21:07" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000167030" "00166151" "1" "02418" "02418" "2010-03-05 11:21:07" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000167031" "00166152" "1" "02416" "02416" "2010-09-15 11:49:38" "00110" "2015-02-02 16:54:37" "arrayCGH;MLPA;SEQ" "DNA" "" "" "0000167032" "00166153" "1" "02418" "02418" "2010-03-05 11:21:07" "00110" "2012-08-13 17:31:15" "SEQ" "DNA" "" "" "0000167033" "00166154" "1" "02418" "02418" "2010-03-05 11:21:07" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000167034" "00166155" "1" "02418" "02418" "2010-03-05 11:21:07" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000167036" "00166157" "1" "02418" "02418" "2010-03-05 11:21:07" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000167037" "00166158" "1" "02418" "02418" "2010-03-05 11:21:07" "00110" "2016-05-30 18:09:35" "SEQ" "DNA" "" "" "0000167038" "00166159" "1" "02418" "02418" "2010-03-05 11:21:07" "00110" "2012-08-13 17:30:17" "minigene;SEQ" "DNA" "" "" "0000167039" "00166160" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2012-04-06 16:37:39" "SEQ" "DNA" "" "" "0000167040" "00166161" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2012-04-06 16:37:39" "SEQ" "DNA" "" "" "0000167041" "00166162" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2012-04-06 16:37:39" "SEQ" "DNA" "" "" "0000167042" "00166163" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2012-04-06 17:43:19" "SEQ" "DNA" "" "" "0000167043" "00166164" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2012-04-06 17:36:01" "SEQ" "DNA" "" "" "0000167044" "00166165" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2012-04-06 17:36:01" "SEQ" "DNA" "" "" "0000167045" "00166166" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2012-04-06 17:36:01" "SEQ" "DNA" "" "" "0000167046" "00166167" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2012-04-06 17:36:01" "SEQ" "DNA" "" "" "0000167047" "00166168" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2012-04-06 17:36:01" "SEQ" "DNA" "" "" "0000167048" "00166169" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2012-04-06 17:36:01" "SEQ" "DNA" "" "" "0000167049" "00166170" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2012-04-06 17:36:01" "SEQ" "DNA" "" "" "0000167050" "00166171" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2012-04-06 17:36:01" "SEQ" "DNA" "" "" "0000167051" "00166172" "1" "02416" "02416" "2010-03-05 11:21:07" "00110" "2012-04-06 17:36:01" "SEQ" "DNA" "" "" "0000167052" "00166173" "1" "02416" "02416" "2010-03-05 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"00331632" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000332927" "00331708" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000334580" "00333355" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000334586" "00333361" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000334589" "00333364" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000334874" "00333648" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000335239" "00334013" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335240" "00334014" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335241" "00334015" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335242" "00334016" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335243" "00334017" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335244" "00334018" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335245" "00334019" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000336569" "00335340" "1" "02485" "00006" "2021-03-04 17:06:33" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000337214" "00335984" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000337215" "00335985" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000337216" "00335986" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000337217" "00335987" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360059" "00358829" "1" "00000" "00006" "2021-03-14 09:54:57" "" "" "SEQ" "DNA" "" "" "0000360186" "00358949" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360209" "00358972" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360356" "00359118" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000362654" "00361426" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "WES" "0000364451" "00363223" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "MLPA;SEQ" "DNA" "" "locus‐specific polymorphic microsatellite marker" "0000364452" "00363224" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "MLPA;SEQ" "DNA" "" "locus‐specific polymorphic microsatellite marker" "0000373746" "00372513" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000373750" "00372517" "1" "00006" "00006" "2021-05-08 11:11:33" "" "" "SEQ" "DNA" "" "" "0000373756" "00372523" "1" "00006" "00006" "2021-05-08 12:22:23" "" "" "SEQ-NG" "DNA" "" "" "0000373915" "00372683" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000374699" "00373464" "1" "00006" "00006" "2021-05-14 15:56:17" "" "" "SEQ;SEQ-NG" "DNA" "" "123-gene panel" "0000376610" "00375413" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376625" "00375428" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000378068" "00376863" "1" "00000" "00006" "2021-06-25 17:40:07" "" "" "SEQ" "DNA" "" "WES" "0000380819" "00379620" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ" "DNA" "blood" "" "0000380822" "00379623" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ" "DNA" "blood" "" "0000380907" "00379705" "1" "00000" "03840" "2021-08-06 16:45:16" "" "" "SEQ-NG-I" "DNA" "blood" "Whole-exome sequencing" "0000381052" "00379850" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "exome sequencing" "0000381417" "00380215" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000382075" "00380861" "1" "00000" "03840" "2021-08-23 13:21:22" "" "" "SEQ" "DNA" "blood" "" "0000383457" "00382243" "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" "0000383784" "00382570" "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" "0000383785" "00382571" "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" "0000386365" "00385136" "1" "00000" "03840" "2021-10-08 17:29:22" "" "" "SEQ-NG-I" "DNA" "" "176 genes panel" "0000388057" "00386829" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;PCRq" "DNA" "blood" "" "0000388336" "00387110" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000389714" "00388473" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "CNV gene panel next-generation sequencing" "0000389977" "00388734" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390029" "00388786" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET1 targeted sequencing panel - see paper" "0000390038" "00388795" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390115" "00388872" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390116" "00388873" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "MLPA" "DNA" "blood" "MLPA" "0000391717" "00390476" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000392613" "00391371" "1" "00000" "03840" "2021-11-15 18:02:17" "" "" "SEQ-NG" "DNA" "" "retrospective case note review, targeted gene panel testing" "0000392735" "00391493" "1" "00000" "03840" "2021-11-15 19:12:31" "" "" "SEQ-NG" "DNA" "" "" "0000394833" "00393585" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394897" "00393649" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394919" "00393671" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395212" "00393964" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" "" "0000395236" "00393988" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000395959" "00394712" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395960" "00394713" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000397051" "00395812" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397154" "00395915" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397480" "00396239" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397481" "00396240" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397509" "00396268" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397510" "00396269" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397533" "00396292" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397534" "00396293" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397535" "00396294" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397658" "00396417" "1" "00006" "00006" "2021-12-15 14:29:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000410255" "00408990" "1" "00000" "03840" "2022-04-29 20:33:43" "" "" "STR;SEQ" "DNA" "" "" "0000410256" "00408991" "1" "00000" "03840" "2022-04-29 20:33:43" "" "" "STR;SEQ" "DNA" "" "" "0000410257" "00408992" "1" "00000" "03840" "2022-04-29 20:33:43" "" "" "STR;SEQ" "DNA" "" "" "0000410258" "00408993" "1" "00000" "03840" "2022-04-29 20:33:43" "" "" "STR;SEQ" "DNA" "" "" "0000414942" "00413662" "1" "01741" "01741" "2022-07-21 11:12:10" "" "" "SEQ-NG" "DNA" "" "" "0000421737" "00420428" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421825" "00420516" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000432338" "00430927" "1" "04091" "00006" "2023-01-25 13:11:03" "" "" "SEQ-NG" "DNA" "" "WGS" "0000442831" "00441345" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442832" "00441346" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442833" "00441347" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442834" "00441348" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000444896" "00443407" "1" "00006" "00006" "2023-11-26 09:32:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000448536" "00446959" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448578" "00447001" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448978" "00447401" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448982" "00447405" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448983" "00447406" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448988" "00447411" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449015" "00447438" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449074" "00447497" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449171" "00447594" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000451579" "00449983" "1" "02230" "00006" "2024-05-24 14:55:58" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WGS" "0000466968" "00465320" "1" "04847" "04847" "2025-05-13 09:01:56" "00006" "2025-05-14 09:27:31" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 88 "{{screeningid}}" "{{geneid}}" "0000059160" "PCDH15" "0000081146" "PCDH15" "0000156381" "PCDH15" "0000226531" "TONSL" "0000268165" "PCDH15" "0000309673" "PCDH15" "0000309876" "PCDH15" "0000309877" "PCDH15" "0000309936" "PCDH15" "0000310427" "PCDH15" "0000310737" "PCDH15" "0000332528" "PCDH15" "0000332529" "PCDH15" "0000332834" "PCDH15" "0000332835" "PCDH15" "0000332836" "PCDH15" "0000332837" "PCDH15" "0000332838" "PCDH15" "0000332838" "TULP1" "0000332851" "PCDH15" "0000332927" "PCDH15" "0000334580" "SNRNP200" "0000334874" "PCDH15" "0000335239" "PCDH15" "0000335240" "PCDH15" "0000335241" "PCDH15" "0000335242" "PCDH15" "0000335243" "PCDH15" "0000335244" "PCDH15" "0000335245" "PCDH15" "0000336569" "PCDH15" "0000337214" "PCDH15" "0000337215" "PCDH15" "0000337216" "PCDH15" "0000337217" "PCDH15" "0000360059" "PCDH15" "0000362654" "PRPH2" "0000364451" "PCDH15" "0000364452" "PCDH15" "0000373746" "PCDH15" "0000373750" "PCDH15" "0000373756" "CACNA1F" "0000374699" "RP1L1" "0000380819" "PCDH15" "0000380822" "PCDH15" "0000380907" "HSPG2" "0000381052" "PCDH15" "0000381417" "CDH23" "0000382075" "USH2A" "0000383457" "CACNA1F" "0000383784" "PCDH15" "0000383785" "PCDH15" "0000386365" "PCDH15" "0000388057" "PCDH15" "0000388336" "PCDH15" "0000389714" "PCDH15" "0000389977" "PCDH15" "0000390029" "PCDH15" "0000390038" "PCDH15" "0000390115" "PCDH15" "0000390116" "PCDH15" "0000391717" "PCDH15" "0000392613" "PCDH15" "0000392735" "CDH23" "0000394833" "PCDH15" "0000394897" "PCDH15" "0000394919" "PCDH15" "0000395212" "PCDH15" "0000395236" "PCDH15" "0000395959" "PCDH15" "0000395960" "PCDH15" "0000397051" "PCDH15" "0000397154" "PCDH15" "0000397480" "PCDH15" "0000397481" "PCDH15" "0000397509" "PCDH15" "0000397510" "PCDH15" "0000397533" "PCDH15" "0000397534" "PCDH15" "0000397535" "PCDH15" "0000410255" "PCDH15" "0000410256" "PCDH15" "0000410257" "PCDH15" "0000410258" "PCDH15" "0000414942" "PCDH15" "0000421737" "PCDH15" "0000421825" "PCDH15" "0000466968" "PCDH15" ## 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 = 1141 "{{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}}" "0000089977" "0" "50" "10" "55779977" "55779977" "subst" "0" "01551" "PCDH15_000291" "g.55779977A>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.54020217A>T" "" "VUS" "" "0000089978" "0" "50" "10" "55892721" "55892724" "del" "0" "01551" "PCDH15_000290" "g.55892721_55892724del" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.54132961_54132964del" "" "VUS" "" "0000091209" "0" "90" "10" "56077174" "56077174" "subst" "0.000207462" "01542" "PCDH15_000039" "g.56077174G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000128993" "1" "70" "10" "55663132" "55663132" "subst" "4.07266E-6" "01740" "PCDH15_000202" "g.55663132T>C" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.53903372T>C" "" "likely pathogenic" "" "0000128994" "2" "70" "10" "55591150" "55591150" "subst" "1.21827E-5" "01740" "PCDH15_000201" "g.55591150G>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.53831390G>T" "" "likely pathogenic" "" "0000130232" "3" "70" "10" "56089354" "56089354" "subst" "0" "01758" "PCDH15_000203" "g.56089354A>G" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.54329594A>G" "" "likely pathogenic" "ACMG" "0000246875" "0" "10" "10" "55582602" "55582602" "subst" "0.00129145" "02330" "PCDH15_000268" "g.55582602A>G" "" "" "" "PCDH15(NM_001142763.1):c.4905T>C (p.T1635=), PCDH15(NM_001142763.2):c.4905T>C (p.T1635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822842A>G" "" "benign" "" "0000246893" "0" "50" "10" "55600206" "55600206" "subst" "2.84308E-5" "02330" "PCDH15_000225" "g.55600206A>T" "" "" "" "PCDH15(NM_001142771.1):c.3872T>A (p.V1291E), PCDH15(NM_001142771.2):c.3872T>A (p.V1291E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53840446A>T" "" "VUS" "" "0000246925" "0" "10" "10" "55719622" "55719622" "subst" "8.55564E-5" "02330" "PCDH15_000281" "g.55719622A>G" "" "" "" "PCDH15(NM_001142771.2):c.3025-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53959862A>G" "" "benign" "" "0000248897" "0" "10" "10" "56423968" "56423968" "subst" "0.219841" "02325" "PCDH15_000253" "g.56423968A>C" "" "" "" "PCDH15(NM_001142771.2):c.55T>G (p.S19A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54664208A>C" "" "benign" "" "0000253356" "0" "10" "10" "55582602" "55582602" "subst" "0.00129145" "01943" "PCDH15_000268" "g.55582602A>G" "" "" "" "PCDH15(NM_001142763.1):c.4905T>C (p.T1635=), PCDH15(NM_001142763.2):c.4905T>C (p.T1635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822842A>G" "" "benign" "" "0000254576" "0" "30" "10" "55782743" "55782743" "subst" "0.000686724" "01943" "PCDH15_000230" "g.55782743A>G" "" "" "" "PCDH15(NM_001142771.1):c.2450T>C (p.I817T), PCDH15(NM_001354429.2):c.2435T>C (p.I812T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54022983A>G" "" "likely benign" "" "0000254663" "0" "30" "10" "55582054" "55582054" "subst" "8.31545E-5" "01943" "PCDH15_000208" "g.55582054A>G" "" "" "" "PCDH15(NM_001142763.1):c.5453T>C (p.L1818P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822294A>G" "" "likely benign" "" "0000254980" "0" "30" "10" "55582133" "55582133" "subst" "0.000342345" "01943" "PCDH15_000213" "g.55582133A>G" "" "" "" "PCDH15(NM_001142763.1):c.5374T>C (p.S1792P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822373A>G" "" "likely benign" "" "0000255120" "0" "30" "10" "55582753" "55582753" "subst" "0.00031284" "01943" "PCDH15_000223" "g.55582753A>G" "" "" "" "PCDH15(NM_001142763.1):c.4754T>C (p.V1585A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822993A>G" "" "likely benign" "" "0000255692" "0" "90" "10" "55755407" "55755407" "subst" "0" "01943" "PCDH15_000229" "g.55755407A>G" "" "" "" "PCDH15(NM_001142771.1):c.2883+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53995647A>G" "" "pathogenic" "" "0000255832" "0" "50" "10" "55600206" "55600206" "subst" "2.84308E-5" "01943" "PCDH15_000225" "g.55600206A>T" "" "" "" "PCDH15(NM_001142771.1):c.3872T>A (p.V1291E), PCDH15(NM_001142771.2):c.3872T>A (p.V1291E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53840446A>T" "" "VUS" "" "0000255868" "0" "50" "10" "55582926" "55582926" "subst" "0" "01943" "PCDH15_000224" "g.55582926A>T" "" "" "" "PCDH15(NM_001142763.1):c.4581T>A (p.D1527E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53823166A>T" "" "VUS" "" "0000293442" "0" "10" "10" "55566323" "55566323" "subst" "0.00162244" "02330" "PCDH15_000304" "g.55566323T>G" "" "" "" "PCDH15(NM_001142771.2):c.*16A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53806563T>G" "" "benign" "" "0000293443" "0" "10" "10" "55973755" "55973755" "subst" "0.00379022" "02330" "PCDH15_000243" "g.55973755G>A" "" "" "" "PCDH15(NM_001142771.1):c.1054C>T (p.L352F), PCDH15(NM_001142771.2):c.1054C>T (p.L352F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54213995G>A" "" "benign" "" "0000293444" "0" "10" "10" "56288130" "56288130" "subst" "0.00194274" "02330" "PCDH15_000251" "g.56288130T>A" "" "" "" "PCDH15(NM_001354429.2):c.92-493A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54528370T>A" "" "benign" "" "0000293445" "0" "10" "10" "56287647" "56287647" "subst" "6.51201E-5" "02330" "PCDH15_000250" "g.56287647G>A" "" "" "" "PCDH15(NM_001142771.2):c.107-10C>T, PCDH15(NM_001354429.1):c.92-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54527887G>A" "" "benign" "" "0000293446" "0" "10" "10" "55943189" "55943189" "subst" "0.00102443" "02330" "PCDH15_000239" "g.55943189T>C" "" "" "" "PCDH15(NM_001142771.2):c.1605+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54183429T>C" "" "benign" "" "0000293447" "0" "10" "10" "55943187" "55943191" "del" "0" "02330" "PCDH15_000236" "g.55943187_55943191del" "" "" "" "PCDH15(NM_001142771.2):c.1605+17_1605+21delTATAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54183427_54183431del" "" "benign" "" "0000293448" "0" "30" "10" "55943184" "55943184" "subst" "0.000439232" "02330" "PCDH15_000237" "g.55943184T>G" "" "" "" "PCDH15(NM_001142771.2):c.1605+20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54183424T>G" "" "likely benign" "" "0000293449" "0" "10" "10" "55912942" "55912942" "subst" "0.00161858" "02330" "PCDH15_000235" "g.55912942C>T" "" "" "" "PCDH15(NM_001142771.1):c.1717G>A (p.A573T), PCDH15(NM_001142771.2):c.1717G>A (p.A573T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54153182C>T" "" "benign" "" "0000293450" "0" "50" "10" "55892664" "55892664" "subst" "0" "02330" "PCDH15_000234" "g.55892664T>C" "" "" "" "PCDH15(NM_001142771.2):c.1903A>G (p.R635G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54132904T>C" "" "VUS" "" "0000293451" "0" "10" "10" "55849812" "55849812" "subst" "0" "02330" "PCDH15_000233" "g.55849812T>G" "" "" "" "PCDH15(NM_001142771.2):c.1944A>C (p.R648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54090052T>G" "" "benign" "" "0000293452" "0" "50" "10" "55826644" "55826644" "subst" "1.22142E-5" "02330" "PCDH15_000231" "g.55826644G>A" "" "" "" "PCDH15(NM_001142771.2):c.2108C>T (p.T703I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54066884G>A" "" "VUS" "" "0000293453" "0" "30" "10" "55782808" "55782808" "subst" "0" "02330" "PCDH15_000286" "g.55782808C>T" "" "" "" "PCDH15(NM_001142771.2):c.2385G>A (p.V795=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54023048C>T" "" "likely benign" "" "0000293454" "0" "10" "10" "55780078" "55780078" "subst" "0.00341842" "02330" "PCDH15_000285" "g.55780078C>T" "" "" "" "PCDH15(NM_001142771.1):c.2640G>A (p.S880=), PCDH15(NM_001142771.2):c.2640G>A (p.S880=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54020318C>T" "" "benign" "" "0000293455" "0" "30" "10" "55721637" "55721637" "subst" "0.000874866" "02330" "PCDH15_000284" "g.55721637G>A" "" "" "" "PCDH15(NM_001142771.1):c.2899C>T (p.R967C), PCDH15(NM_001142771.2):c.2899C>T (p.R967C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53961877G>A" "" "likely benign" "" "0000293456" "0" "10" "10" "55721636" "55721636" "subst" "0.000870612" "02330" "PCDH15_000283" "g.55721636C>T" "" "" "" "PCDH15(NM_001142771.1):c.2900G>A (p.R967H), PCDH15(NM_001142771.2):c.2900G>A (p.R967H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53961876C>T" "" "benign" "" "0000293457" "0" "50" "10" "55721523" "55721523" "subst" "4.10159E-6" "02330" "PCDH15_000282" "g.55721523T>C" "" "" "" "PCDH15(NM_001142771.2):c.3013A>G (p.T1005A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53961763T>C" "" "VUS" "" "0000293458" "0" "10" "10" "55719596" "55719596" "subst" "0.00343287" "02330" "PCDH15_000228" "g.55719596C>A" "" "" "" "PCDH15(NM_001142771.2):c.3033G>T (p.V1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53959836C>A" "" "benign" "" "0000293459" "0" "50" "10" "55719538" "55719538" "subst" "0" "02330" "PCDH15_000227" "g.55719538C>G" "" "" "" "PCDH15(NM_001142771.2):c.3091G>C (p.V1031L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53959778C>G" "" "VUS" "" "0000293460" "0" "50" "10" "55663049" "55663049" "subst" "0" "02330" "PCDH15_000279" "g.55663049C>T" "" "" "" "PCDH15(NM_001142771.2):c.3470G>A (p.G1157D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53903289C>T" "" "VUS" "" "0000293462" "0" "10" "10" "55626625" "55626625" "subst" "0.00442998" "02330" "PCDH15_000278" "g.55626625G>A" "" "" "" "PCDH15(NM_001142771.1):c.3517-8C>T, PCDH15(NM_001142771.2):c.3517-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53866865G>A" "" "benign" "" "0000293463" "0" "10" "10" "55626394" "55626394" "subst" "0.000725092" "02330" "PCDH15_000276" "g.55626394C>G" "" "" "" "PCDH15(NM_001142771.1):c.3732+8G>C, PCDH15(NM_001142771.2):c.3732+8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53866634C>G" "" "benign" "" "0000293464" "0" "10" "10" "55591253" "55591253" "subst" "0.00173817" "02330" "PCDH15_000256" "g.55591253G>T" "" "" "" "PCDH15(NM_001142763.1):c.4039C>A (p.(Gln1347Lys)), PCDH15(NM_001142771.1):c.4039C>A (p.Q1347K), PCDH15(NM_001142771.2):c.4039C>A (p.Q1347K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53831493G>T" "" "benign" "" "0000293465" "0" "10" "10" "55587245" "55587245" "subst" "4.10203E-6" "02330" "PCDH15_000275" "g.55587245T>A" "" "" "" "PCDH15(NM_001142771.2):c.4290A>T (p.A1430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53827485T>A" "" "benign" "" "0000293467" "0" "50" "10" "55583005" "55583021" "del" "4.06712E-6" "02330" "PCDH15_000273" "g.55583005_55583021del" "" "" "" "PCDH15(NM_001142763.2):c.4486_4502delACTATTGAGGCTCACAA (p.T1496Vfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53823245_53823261del" "" "VUS" "" "0000293468" "0" "10" "10" "55569249" "55569249" "subst" "0.000500835" "02330" "PCDH15_000300" "g.55569249C>T" "" "" "" "PCDH15(NM_001142769.3):c.4576G>A (p.E1526K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53809489C>T" "" "benign" "" "0000293469" "0" "10" "10" "55569263" "55569263" "subst" "0.00131103" "02330" "PCDH15_000302" "g.55569263T>G" "" "" "" "PCDH15(NM_001142770.2):c.4597A>C (p.S1533R), PCDH15(NM_001142770.3):c.4597A>C (p.S1533R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53809503T>G" "" "benign" "" "0000293470" "0" "10" "10" "55566671" "55566671" "subst" "0.000810247" "02330" "PCDH15_000307" "g.55566671G>A" "" "" "" "PCDH15(NM_001142771.1):c.4717C>T (p.L1573=), PCDH15(NM_001142771.2):c.4717C>T (p.L1573=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53806911G>A" "" "benign" "" "0000293471" "0" "30" "10" "55582769" "55582769" "subst" "3.25142E-5" "02330" "PCDH15_000271" "g.55582769G>C" "" "" "" "PCDH15(NM_001142763.1):c.4738C>G (p.L1580V), PCDH15(NM_001142763.2):c.4738C>G (p.L1580V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53823009G>C" "" "likely benign" "" "0000293473" "0" "10" "10" "55568878" "55568878" "subst" "0.00102702" "02330" "PCDH15_000297" "g.55568878T>G" "" "" "" "PCDH15(NM_001142769.2):c.4947A>C (p.E1649D), PCDH15(NM_001142769.3):c.4947A>C (p.E1649D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53809118T>G" "" "benign" "" "0000293474" "0" "10" "10" "55582418" "55582418" "subst" "0" "02330" "PCDH15_000220" "g.55582418T>C" "" "" "" "PCDH15(NM_001142763.2):c.5089A>G (p.I1697V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822658T>C" "" "benign" "" "0000293475" "0" "30" "10" "55582239" "55582241" "del" "0" "02330" "PCDH15_000219" "g.55582239_55582241del" "" "" "" "PCDH15(NM_001142763.1):c.5275_5277delCCT (p.P1759del), PCDH15(NM_001142763.2):c.5275_5277delCCT (p.P1759del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822479_53822481del" "" "likely benign" "" "0000293476" "0" "10" "10" "55568530" "55568530" "subst" "0.000514336" "02330" "PCDH15_000293" "g.55568530T>C" "" "" "" "PCDH15(NM_001142769.3):c.5295A>G (p.P1765=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53808770T>C" "" "benign" "" "0000293477" "0" "30" "10" "55582211" "55582216" "del" "0" "02330" "PCDH15_000217" "g.55582211_55582216del" "" "" "" "PCDH15(NM_001142763.2):c.5296_5301delCCTCCT (p.P1766_P1767del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822451_53822456del" "" "likely benign" "" "0000293478" "0" "30" "10" "55582088" "55582088" "subst" "0.00140531" "02330" "PCDH15_000210" "g.55582088C>T" "" "" "" "PCDH15(NM_001142763.1):c.5419G>A (p.V1807I), PCDH15(NM_001142763.2):c.5419G>A (p.V1807I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822328C>T" "" "likely benign" "" "0000293479" "0" "10" "10" "55582072" "55582072" "subst" "0.00104678" "02330" "PCDH15_000209" "g.55582072G>A" "" "" "" "PCDH15(NM_001142763.2):c.5435C>T (p.P1812L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822312G>A" "" "benign" "" "0000293480" "0" "10" "10" "55581929" "55581929" "subst" "0.00067841" "02330" "PCDH15_000207" "g.55581929T>G" "" "" "" "PCDH15(NM_001142763.1):c.5578A>C (p.M1860L), PCDH15(NM_001142763.2):c.5578A>C (p.M1860L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822169T>G" "" "benign" "" "0000293481" "0" "10" "10" "55581921" "55581921" "subst" "0.00177122" "02330" "PCDH15_000206" "g.55581921G>A" "" "" "" "PCDH15(NM_001142763.1):c.5586C>T (p.A1862=), PCDH15(NM_001142763.2):c.5586C>T (p.A1862=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822161G>A" "" "benign" "" "0000293482" "0" "30" "10" "55581760" "55581760" "subst" "0.000138168" "02330" "PCDH15_000204" "g.55581760C>T" "" "" "" "PCDH15(NM_001142763.1):c.5747G>A (p.R1916H), PCDH15(NM_001142763.2):c.5747G>A (p.R1916H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822000C>T" "" "likely benign" "" "0000296783" "0" "10" "10" "55943184" "55943184" "subst" "0.661706" "02325" "PCDH15_000238" "g.55943184T>C" "" "" "" "PCDH15(NM_001142771.2):c.1605+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54183424T>C" "" "benign" "" "0000296784" "0" "10" "10" "55755491" "55755491" "subst" "0.25214" "02325" "PCDH15_000262" "g.55755491C>T" "" "" "" "PCDH15(NM_001142771.2):c.2801G>A (p.R934Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53995731C>T" "" "benign" "" "0000296785" "0" "10" "10" "55591313" "55591313" "subst" "0.429407" "02325" "PCDH15_000257" "g.55591313G>A" "" "" "" "PCDH15(NM_001142771.2):c.3999-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53831553G>A" "" "benign" "" "0000296786" "0" "10" "10" "56345303" "56345303" "subst" "0" "02325" "PCDH15_000252" "g.56345303T>C" "" "" "" "PCDH15(NM_001142771.2):c.92-57141A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54585543T>C" "" "benign" "" "0000305080" "0" "50" "10" "55973766" "55973766" "subst" "0.000162558" "01943" "PCDH15_000244" "g.55973766C>T" "" "" "" "PCDH15(NM_001142771.1):c.1043G>A (p.R348K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54214006C>T" "" "VUS" "" "0000305081" "0" "30" "10" "55973755" "55973755" "subst" "0.00379022" "01943" "PCDH15_000243" "g.55973755G>A" "" "" "" "PCDH15(NM_001142771.1):c.1054C>T (p.L352F), PCDH15(NM_001142771.2):c.1054C>T (p.L352F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54213995G>A" "" "likely benign" "" "0000305082" "0" "50" "10" "55955543" "55955543" "subst" "0.000402073" "01943" "PCDH15_000242" "g.55955543C>G" "" "" "" "PCDH15(NM_001142771.1):c.1220G>C (p.G407A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54195783C>G" "" "VUS" "" "0000305083" "0" "30" "10" "55944972" "55944972" "subst" "0.000706955" "01943" "PCDH15_000241" "g.55944972G>A" "" "" "" "PCDH15(NM_001142771.2):c.1377C>T (p.V459=), PCDH15(NM_001354429.1):c.1362C>T (p.V454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54185212G>A" "" "likely benign" "" "0000305084" "0" "30" "10" "55944900" "55944900" "subst" "2.84551E-5" "01943" "PCDH15_000240" "g.55944900G>A" "" "" "" "PCDH15(NM_001142771.1):c.1449C>T (p.T483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54185140G>A" "" "likely benign" "" "0000305085" "0" "10" "10" "55912942" "55912942" "subst" "0.00161858" "01943" "PCDH15_000235" "g.55912942C>T" "" "" "" "PCDH15(NM_001142771.1):c.1717G>A (p.A573T), PCDH15(NM_001142771.2):c.1717G>A (p.A573T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54153182C>T" "" "benign" "" "0000305086" "0" "30" "10" "55849806" "55849806" "subst" "0" "01943" "PCDH15_000232" "g.55849806T>A" "" "" "" "PCDH15(NM_001142771.1):c.1950A>T (p.G650=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54090046T>A" "" "likely benign" "" "0000305087" "0" "50" "10" "55782888" "55782888" "subst" "0.000374523" "01943" "PCDH15_000288" "g.55782888G>A" "" "" "" "PCDH15(NM_001142771.1):c.2305C>T (p.R769C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54023128G>A" "" "VUS" "" "0000305088" "0" "50" "10" "55782824" "55782824" "subst" "2.44075E-5" "01943" "PCDH15_000287" "g.55782824T>C" "" "" "" "PCDH15(NM_001142771.1):c.2369A>G (p.Y790C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54023064T>C" "" "VUS" "" "0000305089" "0" "30" "10" "56138617" "56138617" "subst" "0.000942737" "01943" "PCDH15_000249" "g.56138617C>T" "" "" "" "PCDH15(NM_001142771.1):c.258G>A (p.V86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54378857C>T" "" "likely benign" "" "0000305090" "0" "30" "10" "55780078" "55780078" "subst" "0.00341842" "01943" "PCDH15_000285" "g.55780078C>T" "" "" "" "PCDH15(NM_001142771.1):c.2640G>A (p.S880=), PCDH15(NM_001142771.2):c.2640G>A (p.S880=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54020318C>T" "" "likely benign" "" "0000305091" "0" "30" "10" "55721637" "55721637" "subst" "0.000874866" "01943" "PCDH15_000284" "g.55721637G>A" "" "" "" "PCDH15(NM_001142771.1):c.2899C>T (p.R967C), PCDH15(NM_001142771.2):c.2899C>T (p.R967C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53961877G>A" "" "likely benign" "" "0000305092" "0" "30" "10" "55721636" "55721636" "subst" "0.000870612" "01943" "PCDH15_000283" "g.55721636C>T" "" "" "" "PCDH15(NM_001142771.1):c.2900G>A (p.R967H), PCDH15(NM_001142771.2):c.2900G>A (p.R967H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53961876C>T" "" "likely benign" "" "0000305093" "0" "30" "10" "56138570" "56138570" "subst" "0" "01943" "PCDH15_000248" "g.56138570T>C" "" "" "" "PCDH15(NM_001142771.1):c.305A>G (p.N102S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54378810T>C" "" "likely benign" "" "0000305094" "0" "50" "10" "55698631" "55698631" "subst" "8.13339E-6" "01943" "PCDH15_000226" "g.55698631C>G" "" "" "" "PCDH15(NM_001142771.1):c.3332G>C (p.R1111P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53938871C>G" "" "VUS" "" "0000305095" "0" "50" "10" "55663132" "55663132" "subst" "4.07266E-6" "01943" "PCDH15_000202" "g.55663132T>C" "" "" "" "PCDH15(NM_001142771.1):c.3389-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53903372T>C" "" "VUS" "" "0000305096" "0" "50" "10" "55663056" "55663056" "subst" "0" "01943" "PCDH15_000280" "g.55663056T>C" "" "" "" "PCDH15(NM_001142771.1):c.3463A>G (p.I1155V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53903296T>C" "" "VUS" "" "0000305097" "0" "30" "10" "55626625" "55626625" "subst" "0.00442998" "01943" "PCDH15_000278" "g.55626625G>A" "" "" "" "PCDH15(NM_001142771.1):c.3517-8C>T, PCDH15(NM_001142771.2):c.3517-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53866865G>A" "" "likely benign" "" "0000305098" "0" "30" "10" "55626394" "55626394" "subst" "0.000725092" "01943" "PCDH15_000276" "g.55626394C>G" "" "" "" "PCDH15(NM_001142771.1):c.3732+8G>C, PCDH15(NM_001142771.2):c.3732+8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53866634C>G" "" "likely benign" "" "0000305099" "0" "30" "10" "55582988" "55582988" "subst" "2.03346E-5" "01943" "PCDH15_000272" "g.55582988C>T" "" "" "" "PCDH15(NM_001142763.1):c.4519G>A (p.G1507R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53823228C>T" "" "likely benign" "" "0000305100" "0" "30" "10" "55569229" "55569229" "subst" "0.00504278" "01943" "PCDH15_000299" "g.55569229G>A" "" "" "" "PCDH15(NM_001142769.2):c.4596C>T (p.I1532=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53809469G>A" "" "likely benign" "" "0000305101" "0" "10" "10" "55569263" "55569263" "subst" "0.00131103" "01943" "PCDH15_000302" "g.55569263T>G" "" "" "" "PCDH15(NM_001142770.2):c.4597A>C (p.S1533R), PCDH15(NM_001142770.3):c.4597A>C (p.S1533R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53809503T>G" "" "benign" "" "0000305102" "0" "30" "10" "55566702" "55566702" "subst" "0.00262362" "01943" "PCDH15_000308" "g.55566702C>T" "" "" "" "PCDH15(NM_001142771.1):c.4686G>A (p.T1562=), PCDH15(NM_001354429.2):c.4794G>A (p.T1598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53806942C>T" "" "likely benign" "" "0000305103" "0" "30" "10" "55582769" "55582769" "subst" "3.25142E-5" "01943" "PCDH15_000271" "g.55582769G>C" "" "" "" "PCDH15(NM_001142763.1):c.4738C>G (p.L1580V), PCDH15(NM_001142763.2):c.4738C>G (p.L1580V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53823009G>C" "" "likely benign" "" "0000305104" "0" "10" "10" "55582674" "55582674" "subst" "0.00203979" "01943" "PCDH15_000270" "g.55582674C>A" "" "" "" "PCDH15(NM_001142763.1):c.4833G>T (p.R1611S), PCDH15(NM_033056.4):c.4812G>T (p.R1604S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822914C>A" "" "benign" "" "0000305105" "0" "30" "10" "56106247" "56106247" "subst" "0.00820126" "01943" "PCDH15_000247" "g.56106247G>A" "" "" "" "PCDH15(NM_001142771.1):c.490-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54346487G>A" "" "likely benign" "" "0000305106" "0" "50" "10" "55582594" "55582594" "subst" "9.34086E-5" "01943" "PCDH15_000222" "g.55582594G>T" "" "" "" "PCDH15(NM_001142763.1):c.4913C>A (p.A1638E), PCDH15(NM_001142763.2):c.4913C>A (p.A1638E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822834G>T" "" "VUS" "" "0000305107" "0" "90" "10" "55582579" "55582580" "del" "0" "01943" "PCDH15_000221" "g.55582579_55582580del" "" "" "" "PCDH15(NM_001142763.1):c.4928_4929delAA (p.K1643Rfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822819_53822820del" "" "pathogenic" "" "0000305108" "0" "30" "10" "55568876" "55568876" "subst" "0.000207953" "01943" "PCDH15_000296" "g.55568876G>A" "" "" "" "PCDH15(NM_001142769.2):c.4949C>T (p.S1650L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53809116G>A" "" "likely benign" "" "0000305109" "0" "30" "10" "55568589" "55568589" "subst" "0.000575206" "01943" "PCDH15_000294" "g.55568589C>T" "" "" "" "PCDH15(NM_001142769.2):c.5236G>A (p.G1746S), PCDH15(NM_001142769.3):c.5236G>A (p.G1746S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53808829C>T" "" "likely benign" "" "0000305110" "0" "30" "10" "55582239" "55582241" "del" "0" "01943" "PCDH15_000219" "g.55582239_55582241del" "" "" "" "PCDH15(NM_001142763.1):c.5275_5277delCCT (p.P1759del), PCDH15(NM_001142763.2):c.5275_5277delCCT (p.P1759del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822479_53822481del" "" "likely benign" "" "0000305111" "0" "30" "10" "55582223" "55582223" "subst" "0" "01943" "PCDH15_000218" "g.55582223G>A" "" "" "" "PCDH15(NM_001142763.1):c.5284C>T (p.P1762S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822463G>A" "" "likely benign" "" "0000305112" "0" "30" "10" "55568527" "55568527" "subst" "0.00712305" "01943" "PCDH15_000292" "g.55568527C>T" "" "" "" "PCDH15(NM_001142769.2):c.5298G>A (p.A1766=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53808767C>T" "" "likely benign" "" "0000305113" "0" "50" "10" "55582205" "55582210" "del" "0" "01943" "PCDH15_000216" "g.55582205_55582210del" "" "" "" "PCDH15(NM_001142763.1):c.5308_5313delGCTCCT (p.A1770_P1771del), PCDH15(NM_001142763.2):c.5308_5313delGCTCCT (p.A1770_P1771del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822445_53822450del" "" "VUS" "" "0000305115" "0" "10" "10" "55582127" "55582127" "subst" "0.0187812" "01943" "PCDH15_000212" "g.55582127G>A" "" "" "" "PCDH15(NM_001142763.1):c.5380C>T (p.P1794S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822367G>A" "" "benign" "" "0000305116" "0" "30" "10" "55582089" "55582089" "subst" "7.05113E-5" "01943" "PCDH15_000211" "g.55582089G>A" "" "" "" "PCDH15(NM_001142763.1):c.5418C>T (p.S1806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822329G>A" "" "likely benign" "" "0000305117" "0" "30" "10" "55582088" "55582088" "subst" "0.00140531" "01943" "PCDH15_000210" "g.55582088C>T" "" "" "" "PCDH15(NM_001142763.1):c.5419G>A (p.V1807I), PCDH15(NM_001142763.2):c.5419G>A (p.V1807I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822328C>T" "" "likely benign" "" "0000305118" "0" "30" "10" "55581921" "55581921" "subst" "0.00177122" "01943" "PCDH15_000206" "g.55581921G>A" "" "" "" "PCDH15(NM_001142763.1):c.5586C>T (p.A1862=), PCDH15(NM_001142763.2):c.5586C>T (p.A1862=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822161G>A" "" "likely benign" "" "0000305119" "0" "50" "10" "55581895" "55581895" "subst" "0" "01943" "PCDH15_000205" "g.55581895T>C" "" "" "" "PCDH15(NM_001142763.1):c.5612A>G (p.Q1871R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822135T>C" "" "VUS" "" "0000305120" "0" "50" "10" "56106126" "56106126" "subst" "0.000207398" "01943" "PCDH15_000246" "g.56106126G>A" "" "" "" "PCDH15(NM_001142771.1):c.608C>T (p.P203L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54346366G>A" "" "VUS" "" "0000305121" "0" "30" "10" "56077022" "56077022" "subst" "0" "01943" "PCDH15_000245" "g.56077022T>G" "" "" "" "PCDH15(NM_001142771.1):c.891+9A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54317262T>G" "" "likely benign" "" "0000321537" "0" "50" "10" "55582183" "55582191" "dup" "0" "01804" "PCDH15_000215" "g.55582183_55582191dup" "" "" "" "PCDH15(NM_001142763.1):c.5317_5325dupGCTCCTCCT (p.A1773_P1775dup), PCDH15(NM_001142763.1):c.5325_5326insGCTCCTCCT (p.(Ala1773_Pro1775dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822423_53822431dup" "" "VUS" "" "0000321538" "0" "50" "10" "55591253" "55591253" "subst" "0.00173817" "01804" "PCDH15_000067" "g.55591253G>T" "" "" "" "PCDH15(NM_001142763.1):c.4039C>A (p.(Gln1347Lys)), PCDH15(NM_001142771.1):c.4039C>A (p.Q1347K), PCDH15(NM_001142771.2):c.4039C>A (p.Q1347K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53831493G>T" "" "VUS" "" "0000338393" "0" "10" "10" "55591313" "55591313" "subst" "0.429407" "02327" "PCDH15_000257" "g.55591313G>A" "" "" "" "PCDH15(NM_001142771.2):c.3999-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53831553G>A" "" "benign" "" "0000338394" "0" "50" "10" "55626397" "55626397" "subst" "4.07232E-6" "02327" "PCDH15_000259" "g.55626397C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53866637C>T" "" "VUS" "" "0000338397" "0" "90" "10" "55755407" "55755407" "subst" "0" "02327" "PCDH15_000229" "g.55755407A>G" "" "" "" "PCDH15(NM_001142771.1):c.2883+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53995647A>G" "" "pathogenic" "" "0000338398" "0" "10" "10" "56077209" "56077209" "subst" "0.657115" "02327" "PCDH15_000265" "g.56077209G>A" "" "" "" "PCDH15(NM_001142771.2):c.721-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54317449G>A" "" "benign" "" "0000338399" "0" "10" "10" "56287569" "56287569" "subst" "0.0778492" "02327" "PCDH15_000266" "g.56287569T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54527809T>C" "" "benign" "" "0000341417" "0" "50" "10" "55955613" "55955613" "subst" "0" "02327" "PCDH15_000263" "g.55955613C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54195853C>A" "" "VUS" "" "0000341966" "0" "50" "10" "55569264" "55569267" "del" "0" "02327" "PCDH15_000301" "g.55569264_55569267del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53809504_53809507del" "" "VUS" "" "0000342395" "0" "90" "10" "56077174" "56077174" "subst" "0.000207462" "02327" "PCDH15_000039" "g.56077174G>A" "" "" "" "PCDH15(NM_001142771.1):c.748C>T (p.R250*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000343491" "0" "10" "10" "55755491" "55755491" "subst" "0.25214" "02327" "PCDH15_000262" "g.55755491C>T" "" "" "" "PCDH15(NM_001142771.2):c.2801G>A (p.R934Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53995731C>T" "" "benign" "" "0000344544" "0" "30" "10" "55591253" "55591253" "subst" "0.00173817" "02327" "PCDH15_000256" "g.55591253G>T" "" "" "" "PCDH15(NM_001142763.1):c.4039C>A (p.(Gln1347Lys)), PCDH15(NM_001142771.1):c.4039C>A (p.Q1347K), PCDH15(NM_001142771.2):c.4039C>A (p.Q1347K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53831493G>T" "" "likely benign" "" "0000344581" "0" "70" "10" "55569099" "55569099" "subst" "0" "02327" "PCDH15_000298" "g.55569099G>A" "" "" "" "PCDH15(NM_001142769.3):c.4726C>T (p.Q1576*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53809339G>A" "" "likely pathogenic" "" "0000345661" "0" "50" "10" "55626598" "55626598" "subst" "9.76054E-5" "02327" "PCDH15_000260" "g.55626598C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53866838C>T" "" "VUS" "" "0000345702" "0" "50" "10" "55591241" "55591241" "subst" "0" "02327" "PCDH15_000255" "g.55591241C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53831481C>T" "" "VUS" "" "0000346744" "0" "50" "10" "56287601" "56287601" "subst" "1.22028E-5" "02327" "PCDH15_000267" "g.56287601A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54527841A>G" "" "VUS" "" "0000348246" "0" "10" "10" "55582127" "55582127" "subst" "0.0187812" "02327" "PCDH15_000212" "g.55582127G>A" "" "" "" "PCDH15(NM_001142763.1):c.5380C>T (p.P1794S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53822367G>A" "" "benign" "" "0000348357" "0" "50" "10" "56077032" "56077032" "subst" "4.47213E-5" "02327" "PCDH15_000264" "g.56077032G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54317272G>A" "" "VUS" "" "0000350222" "0" "90" "10" "55721599" "55721599" "subst" "0" "02327" "PCDH15_000261" "g.55721599G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53961839G>T" "" "pathogenic" "" "0000351284" "0" "90" "10" "55663132" "55663132" "subst" "4.07266E-6" "02327" "PCDH15_000202" "g.55663132T>C" "" "" "" "PCDH15(NM_001142771.1):c.3389-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53903372T>C" "" "pathogenic" "" "0000358303" "3" "90" "10" "56077174" "56077174" "subst" "0.000207462" "01243" "PCDH15_000039" "g.56077174G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374256" "10" "11" "10" "56287689" "56287689" "subst" "0" "02416" "PCDH15_000001" "g.56287689A>C" "" "{PMID:Baux 2008:18484607}" "+DdeI;+BspCNI;+TspRI;" "" "homozygous" "Germline" "" "rs10825347" "0" "" "" "g.54527929A>C" "" "benign" "" "0000374257" "20" "11" "10" "56287689" "56287689" "subst" "0" "02416" "PCDH15_000001" "g.56287689A>C" "" "{PMID:Baux 2008:18484607}" "+DdeI;+BspCNI;+TspRI;" "" "homozygous" "Germline" "" "rs10825347" "0" "" "" "g.54527929A>C" "" "benign" "" "0000374258" "10" "11" "10" "56287689" "56287689" "subst" "0" "02416" "PCDH15_000001" "g.56287689A>C" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BspCNI;+TspRI;" "" "homozygous" "Germline" "" "rs10825347" "0" "" "" "g.54527929A>C" "" "benign" "" "0000374259" "20" "11" "10" "56287689" "56287689" "subst" "0" "02416" "PCDH15_000001" "g.56287689A>C" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BspCNI;+TspRI;" "" "homozygous" "Germline" "" "rs10825347" "0" "" "" "g.54527929A>C" "" "benign" "" "0000374260" "0" "11" "10" "56287689" "56287689" "subst" "0" "02416" "PCDH15_000001" "g.56287689A>C" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BspCNI;+TspRI;" "" "hemizygous" "Germline" "" "rs10825347" "0" "" "" "g.54527929A>C" "" "benign" "" "0000374261" "0" "11" "10" "56287689" "56287689" "subst" "0" "02416" "PCDH15_000001" "g.56287689A>C" "" "{PMID:Roux 2011:21436283}" "+DdeI;+BspCNI;+TspRI;" "" "heterozygous" "Germline" "" "rs10825347" "0" "" "" "g.54527929A>C" "" "benign" "" "0000374262" "1" "11" "10" "56287689" "56287689" "subst" "0" "02416" "PCDH15_000001" "g.56287689A>C" "" "" "+DdeI;+BspCNI;+TspRI;" "" "hemizygous" "Germline" "" "rs10825347" "0" "" "" "g.54527929A>C" "" "benign" "" "0000374266" "0" "11" "10" "56129066" "56129066" "subst" "0.197641" "02416" "PCDH15_000002" "g.56129066A>G" "" "{PMID:Roux 2006:16679490}" "none" "" "heterozygous" "Germline" "" "rs11594958" "0" "" "" "g.54369306A>G" "" "benign" "" "0000374267" "0" "11" "10" "56129066" "56129066" "subst" "0.197641" "02416" "PCDH15_000002" "g.56129066A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs11594958" "0" "" "" "g.54369306A>G" "" "benign" "" "0000374268" "10" "11" "10" "56129066" "56129066" "subst" "0.197641" "02416" "PCDH15_000002" "g.56129066A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs11594958" "0" "" "" "g.54369306A>G" "" "benign" "" "0000374269" "20" "11" "10" "56129066" "56129066" "subst" "0.197641" "02416" "PCDH15_000002" "g.56129066A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs11594958" "0" "" "" "g.54369306A>G" "" "benign" "" "0000374270" "1" "11" "10" "56129066" "56129066" "subst" "0.197641" "02416" "PCDH15_000002" "g.56129066A>G" "" "" "none" "" "hemizygous" "Germline" "" "rs11594958" "0" "" "" "g.54369306A>G" "" "benign" "" "0000374271" "0" "75" "10" "55943211" "55943211" "subst" "4.06379E-6" "02416" "PCDH15_000003" "g.55943211A>T" "0/152 controls" "{PMID:Doucette 2009:19107147}; USMA-{USMAPCDH15V528D:} USMA-{MSV3dQ96QU1p.Val528Asp:}" "+Tsp45I;-Tth111I;-PflFI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.54183451A>T" "" "VUS" "ACMG" "0000374272" "0" "75" "10" "55943211" "55943211" "subst" "4.06379E-6" "02416" "PCDH15_000003" "g.55943211A>T" "0/152 controls" "{PMID:Doucette 2009:19107147}; USMA-{USMAPCDH15V528D:} USMA-{MSV3dQ96QU1p.Val528Asp:}" "+Tsp45I;-Tth111I;-PflFI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.54183451A>T" "" "VUS" "ACMG" "0000374273" "0" "75" "10" "55943211" "55943211" "subst" "4.06379E-6" "02416" "PCDH15_000003" "g.55943211A>T" "0/152 controls" "{PMID:Doucette 2009:19107147}; USMA-{USMAPCDH15V528D:} USMA-{MSV3dQ96QU1p.Val528Asp:}" "+Tsp45I;-Tth111I;-PflFI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.54183451A>T" "" "VUS" "ACMG" "0000374274" "0" "75" "10" "55943211" "55943211" "subst" "4.06379E-6" "02416" "PCDH15_000003" "g.55943211A>T" "0/152 controls" "{PMID:Doucette 2009:19107147}; USMA-{USMAPCDH15V528D:} USMA-{MSV3dQ96QU1p.Val528Asp:}" "+Tsp45I;-Tth111I;-PflFI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.54183451A>T" "" "VUS" "ACMG" "0000374275" "10" "75" "10" "55943211" "55943211" "subst" "4.06379E-6" "02416" "PCDH15_000003" "g.55943211A>T" "0/152 controls" "{PMID:Doucette 2009:19107147}; USMA-{USMAPCDH15V528D:} USMA-{MSV3dQ96QU1p.Val528Asp:}" "+Tsp45I;-Tth111I;-PflFI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.54183451A>T" "" "VUS" "ACMG" "0000374276" "20" "75" "10" "55943211" "55943211" "subst" "4.06379E-6" "02416" "PCDH15_000003" "g.55943211A>T" "0/152 controls" "{PMID:Doucette 2009:19107147}; USMA-{USMAPCDH15V528D:} USMA-{MSV3dQ96QU1p.Val528Asp:}" "+Tsp45I;-Tth111I;-PflFI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.54183451A>T" "" "VUS" "ACMG" "0000374279" "0" "11" "10" "56423968" "56423968" "subst" "0.219841" "02416" "PCDH15_000004" "g.56423968A>C" "" "{PMID:Roux 2006:16679490}; USMA-{USMAPCDH15S19A:} USMA-{MSV3dQ96QU1p.Ser19Ala:}" "+HinP1I;+HaeII;+HhaI;-Bsp1286I;-BanII;-CviKI_1;" "" "heterozygous" "Germline" "" "rs11004439" "0" "" "" "g.54664208A>C" "" "benign" "" "0000374280" "10" "11" "10" "56423968" "56423968" "subst" "0.219841" "02416" "PCDH15_000004" "g.56423968A>C" "69/156 controls" "{PMID:Doucette 2009:19107147}; USMA-{USMAPCDH15S19A:} USMA-{MSV3dQ96QU1p.Ser19Ala:}" "+HinP1I;+HaeII;+HhaI;-Bsp1286I;-BanII;-CviKI_1;" "" "homozygous" "Germline" "" "rs11004439" "0" "" "" "g.54664208A>C" "" "benign" "" "0000374281" "20" "11" "10" "56423968" "56423968" "subst" "0.219841" "02416" "PCDH15_000004" "g.56423968A>C" "69/156 controls" "{PMID:Doucette 2009:19107147}; USMA-{USMAPCDH15S19A:} USMA-{MSV3dQ96QU1p.Ser19Ala:}" "+HinP1I;+HaeII;+HhaI;-Bsp1286I;-BanII;-CviKI_1;" "" "homozygous" "Germline" "" "rs11004439" "0" "" "" "g.54664208A>C" "" "benign" "" "0000374282" "10" "11" "10" "56423968" "56423968" "subst" "0.219841" "02416" "PCDH15_000004" "g.56423968A>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMAPCDH15S19A:} USMA-{MSV3dQ96QU1p.Ser19Ala:}" "+HinP1I;+HaeII;+HhaI;-Bsp1286I;-BanII;-CviKI_1;" "" "homozygous" "Germline" "" "rs11004439" "0" "" "" "g.54664208A>C" "" "benign" "" "0000374283" "20" "11" "10" "56423968" "56423968" "subst" "0.219841" "02416" "PCDH15_000004" "g.56423968A>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMAPCDH15S19A:} USMA-{MSV3dQ96QU1p.Ser19Ala:}" "+HinP1I;+HaeII;+HhaI;-Bsp1286I;-BanII;-CviKI_1;" "" "homozygous" "Germline" "" "rs11004439" "0" "" "" "g.54664208A>C" "" "benign" "" "0000374284" "10" "11" "10" "56423968" "56423968" "subst" "0.219841" "02416" "PCDH15_000004" "g.56423968A>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMAPCDH15S19A:} USMA-{MSV3dQ96QU1p.Ser19Ala:}" "+HinP1I;+HaeII;+HhaI;-Bsp1286I;-BanII;-CviKI_1;" "" "homozygous" "Germline" "" "rs11004439" "0" "" "" "g.54664208A>C" "" "benign" "" "0000374285" "20" "11" "10" "56423968" "56423968" "subst" "0.219841" "02416" "PCDH15_000004" "g.56423968A>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMAPCDH15S19A:} USMA-{MSV3dQ96QU1p.Ser19Ala:}" "+HinP1I;+HaeII;+HhaI;-Bsp1286I;-BanII;-CviKI_1;" "" "homozygous" "Germline" "" "rs11004439" "0" "" "" "g.54664208A>C" "" "benign" "" "0000374286" "0" "11" "10" "56423968" "56423968" "subst" "0.219841" "02416" "PCDH15_000004" "g.56423968A>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMAPCDH15S19A:} USMA-{MSV3dQ96QU1p.Ser19Ala:}" "+HinP1I;+HaeII;+HhaI;-Bsp1286I;-BanII;-CviKI_1;" "" "heterozygous" "Germline" "" "rs11004439" "0" "" "" "g.54664208A>C" "" "benign" "" "0000374287" "0" "11" "10" "56423968" "56423968" "subst" "0.219841" "02416" "PCDH15_000004" "g.56423968A>C" "" "{PMID:Rong 2014:24831256}; USMA-{USMAPCDH15S19A:} USMA-{MSV3dQ96QU1p.Ser19Ala:}" "+HinP1I;+HaeII;+HhaI;-Bsp1286I;-BanII;-CviKI_1;" "" "heterozygous; non causative" "Germline" "" "rs11004439" "0" "" "" "g.54664208A>C" "" "benign" "" "0000374288" "0" "11" "10" "56423968" "56423968" "subst" "0.219841" "02416" "PCDH15_000004" "g.56423968A>C" "" "{PMID:Rong 2014:24831256}; USMA-{USMAPCDH15S19A:} USMA-{MSV3dQ96QU1p.Ser19Ala:}" "+HinP1I;+HaeII;+HhaI;-Bsp1286I;-BanII;-CviKI_1;" "" "heterozygous; non causative" "Germline" "" "rs11004439" "0" "" "" "g.54664208A>C" "" "benign" "" "0000374289" "0" "11" "10" "55617042" "55617042" "subst" "0.0229449" "02416" "PCDH15_000005" "g.55617042G>T" "" "{PMID:Roux 2006:16679490}" "-EcoRI;-ApoI;" "" "heterozygous" "Germline" "" "rs75248212" "0" "" "" "g.53857282G>T" "" "benign" "" "0000374290" "10" "11" "10" "55617042" "55617042" "subst" "0.0229449" "02416" "PCDH15_000005" "g.55617042G>T" "6/159 controls" "{PMID:Doucette 2009:19107147}" "-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs75248212" "0" "" "" "g.53857282G>T" "" "benign" "" "0000374291" "20" "11" "10" "55617042" "55617042" "subst" "0.0229449" "02416" "PCDH15_000005" "g.55617042G>T" "6/159 controls" "{PMID:Doucette 2009:19107147}" "-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs75248212" "0" "" "" "g.53857282G>T" "" "benign" "" "0000374292" "10" "11" "10" "55617042" "55617042" "subst" "0.0229449" "02416" "PCDH15_000005" "g.55617042G>T" "" "{PMID:Neveling 2012:22334370}" "-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs75248212" "0" "" "" "g.53857282G>T" "" "benign" "" "0000374293" "20" "11" "10" "55617042" "55617042" "subst" "0.0229449" "02416" "PCDH15_000005" "g.55617042G>T" "" "{PMID:Neveling 2012:22334370}" "-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs75248212" "0" "" "" "g.53857282G>T" "" "benign" "" "0000374294" "0" "11" "10" "55719596" "55719596" "subst" "0.00343287" "02416" "PCDH15_000006" "g.55719596C>A" "" "{PMID:Roux 2006:16679490}" "none" "" "heterozygous" "Germline" "" "rs41307518" "0" "" "" "g.53959836C>A" "" "benign" "" "0000374295" "0" "11" "10" "55719596" "55719596" "subst" "0.00343287" "02419" "PCDH15_000006" "g.55719596C>A" "6/840 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; Neutral" "Germline" "" "rs41307518" "0" "" "" "g.53959836C>A" "" "benign" "" "0000374296" "0" "11" "10" "55719596" "55719596" "subst" "0.00343287" "02419" "PCDH15_000006" "g.55719596C>A" "6/840 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; Neutral" "Germline" "" "rs41307518" "0" "" "" "g.53959836C>A" "" "benign" "" "0000374297" "0" "11" "10" "55892642" "55892642" "subst" "0.0276228" "02416" "PCDH15_000007" "g.55892642T>C" "" "{PMID:Roux 2006:16679490}; USMA-{USMAPCDH15N637S:} USMA-{MSV3dQ96QU1p.Asn637Ser:}" "" "" "heterozygous" "Germline" "" "rs61731389" "0" "" "" "g.54132882T>C" "" "benign" "" "0000374298" "1" "99" "10" "56128923" "56128931" "dup" "0" "02416" "PCDH15_000008" "g.56128923_56128931dup" "" "{PMID:Roux 2006:16679490}" "" "" "hemizygous" "Germline" "" "" "0" "" "" "g.54369163_54369171dup" "" "pathogenic" "" "0000374299" "2" "99" "10" "56128879" "56287638" "del" "0" "02416" "PCDH15_000009" "g.(56106245_56128879)_(56287638_56423931)del" "" "{PMID:Roux 2006:16679490}" "" "del ex3-5" "heterozygous" "Germline" "" "" "0" "" "" "g.(54346485_54369119)_(54527878_54664171)del" "" "pathogenic" "" "0000374300" "0" "11" "10" "55587362" "55587362" "subst" "0" "02416" "PCDH15_000010" "g.55587362A>G" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.53827602A>G" "" "benign" "" "0000374301" "0" "11" "10" "55663198" "55663198" "subst" "0" "02416" "PCDH15_000011" "g.55663198A>C" "" "{PMID:Roux 2006:16679490}" "+CviQI;+RsaI;-SspI;" "" "heterozygous" "Germline" "" "rs10740559" "0" "" "" "g.53903438A>C" "" "benign" "" "0000374302" "10" "11" "10" "55663198" "55663198" "subst" "0" "02416" "PCDH15_000011" "g.55663198A>C" "" "{PMID:Roux 2006:16679490}" "+CviQI;+RsaI;-SspI;" "" "homozygous" "Germline" "" "rs10740559" "0" "" "" "g.53903438A>C" "" "benign" "" "0000374303" "20" "11" "10" "55663198" "55663198" "subst" "0" "02416" "PCDH15_000011" "g.55663198A>C" "" "{PMID:Roux 2006:16679490}" "+CviQI;+RsaI;-SspI;" "" "homozygous" "Germline" "" "rs10740559" "0" "" "" "g.53903438A>C" "" "benign" "" "0000374304" "10" "11" "10" "55663198" "55663198" "subst" "0" "02416" "PCDH15_000011" "g.55663198A>C" "" "{PMID:Roux 2006:16679490}" "+CviQI;+RsaI;-SspI;" "" "homozygous" "Germline" "" "rs10740559" "0" "" "" "g.53903438A>C" "" "benign" "" "0000374305" "20" "11" "10" "55663198" "55663198" "subst" "0" "02416" "PCDH15_000011" "g.55663198A>C" "" "{PMID:Roux 2006:16679490}" "+CviQI;+RsaI;-SspI;" "" "homozygous" "Germline" "" "rs10740559" "0" "" "" "g.53903438A>C" "" "benign" "" "0000374306" "0" "11" "10" "55663198" "55663198" "subst" "0" "02416" "PCDH15_000011" "g.55663198A>C" "" "{PMID:Roux 2006:16679490}" "+CviQI;+RsaI;-SspI;" "" "heterozygous" "Germline" "" "rs10740559" "0" "" "" "g.53903438A>C" "" "benign" "" "0000374307" "10" "11" "10" "55663198" "55663198" "subst" "0" "02416" "PCDH15_000011" "g.55663198A>C" "" "{PMID:Roux 2006:16679490}" "+CviQI;+RsaI;-SspI;" "" "homozygous" "Germline" "" "rs10740559" "0" "" "" "g.53903438A>C" "" "benign" "" "0000374308" "20" "11" "10" "55663198" "55663198" "subst" "0" "02416" "PCDH15_000011" "g.55663198A>C" "" "{PMID:Roux 2006:16679490}" "+CviQI;+RsaI;-SspI;" "" "homozygous" "Germline" "" "rs10740559" "0" "" "" "g.53903438A>C" "" "benign" "" "0000374309" "10" "11" "10" "55663198" "55663198" "subst" "0" "02416" "PCDH15_000011" "g.55663198A>C" "" "{PMID:Roux 2006:16679490}" "+CviQI;+RsaI;-SspI;" "" "homozygous" "Germline" "" "rs10740559" "0" "" "" "g.53903438A>C" "" "benign" "" "0000374310" "20" "11" "10" "55663198" "55663198" "subst" "0" "02416" "PCDH15_000011" "g.55663198A>C" "" "{PMID:Roux 2006:16679490}" "+CviQI;+RsaI;-SspI;" "" "homozygous" "Germline" "" "rs10740559" "0" "" "" "g.53903438A>C" "" "benign" "" "0000374311" "10" "11" "10" "55663198" "55663198" "subst" "0" "02416" "PCDH15_000011" "g.55663198A>C" "" "{PMID:Roux 2011:21436283}" "+CviQI;+RsaI;-SspI;" "" "homozygous" "Germline" "" "rs10740559" "0" "" "" "g.53903438A>C" "" "benign" "" "0000374312" "20" "11" "10" "55663198" "55663198" "subst" "0" "02416" "PCDH15_000011" "g.55663198A>C" "" "{PMID:Roux 2011:21436283}" "+CviQI;+RsaI;-SspI;" "" "homozygous" "Germline" "" "rs10740559" "0" "" "" "g.53903438A>C" "" "benign" "" "0000374313" "10" "11" "10" "55663198" "55663198" "subst" "0" "02416" "PCDH15_000011" "g.55663198A>C" "" "{PMID:Roux 2011:21436283}" "+CviQI;+RsaI;-SspI;" "" "homozygous" "Germline" "" "rs10740559" "0" "" "" "g.53903438A>C" "" "benign" "" "0000374314" "20" "11" "10" "55663198" "55663198" "subst" "0" "02416" "PCDH15_000011" "g.55663198A>C" "" "{PMID:Roux 2011:21436283}" "+CviQI;+RsaI;-SspI;" "" "homozygous" "Germline" "" "rs10740559" "0" "" "" "g.53903438A>C" "" "benign" "" "0000374315" "11" "11" "10" "55663198" "55663198" "subst" "0" "02416" "PCDH15_000011" "g.55663198A>C" "" "{PMID:Roux 2011:21436283}" "+CviQI;+RsaI;-SspI;" "" "hemizygous" "Germline" "" "rs10740559" "0" "" "" "g.53903438A>C" "" "benign" "" "0000374318" "0" "11" "10" "55663202" "55663202" "subst" "0" "02416" "PCDH15_000012" "g.55663202T>C" "" "{PMID:Roux 2006:16679490}" "-SspI" "" "heterozygous" "Germline" "" "rs2593124" "0" "" "" "g.53903442T>C" "" "benign" "" "0000374319" "10" "11" "10" "55663202" "55663202" "subst" "0" "02416" "PCDH15_000012" "g.55663202T>C" "" "{PMID:Roux 2006:16679490}" "-SspI" "" "homozygous" "Germline" "" "rs2593124" "0" "" "" "g.53903442T>C" "" "benign" "" "0000374320" "20" "11" "10" "55663202" "55663202" "subst" "0" "02416" "PCDH15_000012" "g.55663202T>C" "" "{PMID:Roux 2006:16679490}" "-SspI" "" "homozygous" "Germline" "" "rs2593124" "0" "" "" "g.53903442T>C" "" "benign" "" "0000374321" "10" "11" "10" "55663202" "55663202" "subst" "0" "02416" "PCDH15_000012" "g.55663202T>C" "" "{PMID:Roux 2006:16679490}" "-SspI" "" "homozygous" "Germline" "" "rs2593124" "0" "" "" "g.53903442T>C" "" "benign" "" "0000374322" "20" "11" "10" "55663202" "55663202" "subst" "0" "02416" "PCDH15_000012" "g.55663202T>C" "" "{PMID:Roux 2006:16679490}" "-SspI" "" "homozygous" "Germline" "" "rs2593124" "0" "" "" "g.53903442T>C" "" "benign" "" "0000374323" "0" "11" "10" "55663202" "55663202" "subst" "0" "02416" "PCDH15_000012" "g.55663202T>C" "" "{PMID:Roux 2006:16679490}" "-SspI" "" "heterozygous" "Germline" "" "rs2593124" "0" "" "" "g.53903442T>C" "" "benign" "" "0000374324" "10" "11" "10" "55663202" "55663202" "subst" "0" "02416" "PCDH15_000012" "g.55663202T>C" "" "{PMID:Roux 2006:16679490}" "-SspI" "" "homozygous" "Germline" "" "rs2593124" "0" "" "" "g.53903442T>C" "" "benign" "" "0000374325" "20" "11" "10" "55663202" "55663202" "subst" "0" "02416" "PCDH15_000012" "g.55663202T>C" "" "{PMID:Roux 2006:16679490}" "-SspI" "" "homozygous" "Germline" "" "rs2593124" "0" "" "" "g.53903442T>C" "" "benign" "" "0000374326" "10" "11" "10" "55663202" "55663202" "subst" "0" "02416" "PCDH15_000012" "g.55663202T>C" "" "{PMID:Roux 2006:16679490}" "-SspI" "" "homozygous" "Germline" "" "rs2593124" "0" "" "" "g.53903442T>C" "" "benign" "" "0000374327" "20" "11" "10" "55663202" "55663202" "subst" "0" "02416" "PCDH15_000012" "g.55663202T>C" "" "{PMID:Roux 2006:16679490}" "-SspI" "" "homozygous" "Germline" "" "rs2593124" "0" "" "" "g.53903442T>C" "" "benign" "" "0000374328" "10" "11" "10" "55663202" "55663202" "subst" "0" "02416" "PCDH15_000012" "g.55663202T>C" "" "{PMID:Roux 2011:21436283}" "-SspI" "" "homozygous" "Germline" "" "rs2593124" "0" "" "" "g.53903442T>C" "" "benign" "" "0000374329" "20" "11" "10" "55663202" "55663202" "subst" "0" "02416" "PCDH15_000012" "g.55663202T>C" "" "{PMID:Roux 2011:21436283}" "-SspI" "" "homozygous" "Germline" "" "rs2593124" "0" "" "" "g.53903442T>C" "" "benign" "" "0000374330" "10" "11" "10" "55663202" "55663202" "subst" "0" "02416" "PCDH15_000012" "g.55663202T>C" "" "{PMID:Roux 2011:21436283}" "-SspI" "" "homozygous" "Germline" "" "rs2593124" "0" "" "" "g.53903442T>C" "" "benign" "" "0000374331" "20" "11" "10" "55663202" "55663202" "subst" "0" "02416" "PCDH15_000012" "g.55663202T>C" "" "{PMID:Roux 2011:21436283}" "-SspI" "" "homozygous" "Germline" "" "rs2593124" "0" "" "" "g.53903442T>C" "" "benign" "" "0000374332" "11" "11" "10" "55663202" "55663202" "subst" "0" "02416" "PCDH15_000012" "g.55663202T>C" "" "{PMID:Roux 2011:21436283}" "-SspI" "" "hemizygous" "Germline" "" "rs2593124" "0" "" "" "g.53903442T>C" "" "benign" "" "0000374339" "0" "11" "10" "55719652" "55719652" "subst" "0.743565" "02416" "PCDH15_000013" "g.55719652C>T" "" "{PMID:Roux 2006:16679490}" "+HpyCH4III;+TspRI;" "" "heterozygous" "Germline" "" "rs2593107" "0" "" "" "g.53959892C>T" "" "benign" "" "0000374340" "10" "11" "10" "55719652" "55719652" "subst" "0.743565" "02416" "PCDH15_000013" "g.55719652C>T" "" "{PMID:Roux 2006:16679490}" "+HpyCH4III;+TspRI;" "" "homozygous" "Germline" "" "rs2593107" "0" "" "" "g.53959892C>T" "" "benign" "" "0000374341" "20" "11" "10" "55719652" "55719652" "subst" "0.743565" "02416" "PCDH15_000013" "g.55719652C>T" "" "{PMID:Roux 2006:16679490}" "+HpyCH4III;+TspRI;" "" "homozygous" "Germline" "" "rs2593107" "0" "" "" "g.53959892C>T" "" "benign" "" "0000374342" "10" "11" "10" "55719652" "55719652" "subst" "0.743565" "02416" "PCDH15_000013" "g.55719652C>T" "" "{PMID:Roux 2006:16679490}" "+HpyCH4III;+TspRI;" "" "homozygous" "Germline" "" "rs2593107" "0" "" "" "g.53959892C>T" "" "benign" "" "0000374343" "20" "11" "10" "55719652" "55719652" "subst" "0.743565" "02416" "PCDH15_000013" "g.55719652C>T" "" "{PMID:Roux 2006:16679490}" "+HpyCH4III;+TspRI;" "" "homozygous" "Germline" "" "rs2593107" "0" "" "" "g.53959892C>T" "" "benign" "" "0000374344" "10" "11" "10" "55719652" "55719652" "subst" "0.743565" "02416" "PCDH15_000013" "g.55719652C>T" "" "{PMID:Roux 2006:16679490}" "+HpyCH4III;+TspRI;" "" "homozygous" "Germline" "" "rs2593107" "0" "" "" "g.53959892C>T" "" "benign" "" "0000374345" "20" "11" "10" "55719652" "55719652" "subst" "0.743565" "02416" "PCDH15_000013" "g.55719652C>T" "" "{PMID:Roux 2006:16679490}" "+HpyCH4III;+TspRI;" "" "homozygous" "Germline" "" "rs2593107" "0" "" "" "g.53959892C>T" "" "benign" "" "0000374346" "10" "11" "10" "55719652" "55719652" "subst" "0.743565" "02416" "PCDH15_000013" "g.55719652C>T" "" "{PMID:Baux 2008:18484607}" "+HpyCH4III;+TspRI;" "" "homozygous" "Germline" "" "rs2593107" "0" "" "" "g.53959892C>T" "" "benign" "" "0000374347" "20" "11" "10" "55719652" "55719652" "subst" "0.743565" "02416" "PCDH15_000013" "g.55719652C>T" "" "{PMID:Baux 2008:18484607}" "+HpyCH4III;+TspRI;" "" "homozygous" "Germline" "" "rs2593107" "0" "" "" "g.53959892C>T" "" "benign" "" "0000374348" "10" "11" "10" "55719652" "55719652" "subst" "0.743565" "02416" "PCDH15_000013" "g.55719652C>T" "" "{PMID:Roux 2011:21436283}" "+HpyCH4III;+TspRI;" "" "homozygous" "Germline" "" "rs2593107" "0" "" "" "g.53959892C>T" "" "benign" "" "0000374349" "20" "11" "10" "55719652" "55719652" "subst" "0.743565" "02416" "PCDH15_000013" "g.55719652C>T" "" "{PMID:Roux 2011:21436283}" "+HpyCH4III;+TspRI;" "" "homozygous" "Germline" "" "rs2593107" "0" "" "" "g.53959892C>T" "" "benign" "" "0000374350" "0" "11" "10" "55719652" "55719652" "subst" "0.743565" "02416" "PCDH15_000013" "g.55719652C>T" "" "{PMID:Roux 2011:21436283}" "+HpyCH4III;+TspRI;" "" "heterozygous" "Germline" "" "rs2593107" "0" "" "" "g.53959892C>T" "" "benign" "" "0000374351" "10" "11" "10" "55719652" "55719652" "subst" "0.743565" "02416" "PCDH15_000013" "g.55719652C>T" "" "{PMID:Roux 2011:21436283}" "+HpyCH4III;+TspRI;" "" "homozygous" "Germline" "" "rs2593107" "0" "" "" "g.53959892C>T" "" "benign" "" "0000374352" "20" "11" "10" "55719652" "55719652" "subst" "0.743565" "02416" "PCDH15_000013" "g.55719652C>T" "" "{PMID:Roux 2011:21436283}" "+HpyCH4III;+TspRI;" "" "homozygous" "Germline" "" "rs2593107" "0" "" "" "g.53959892C>T" "" "benign" "" "0000374353" "11" "11" "10" "55719652" "55719652" "subst" "0.743565" "02416" "PCDH15_000013" "g.55719652C>T" "" "{PMID:Roux 2011:21436283}" "+HpyCH4III;+TspRI;" "" "hemizygous" "Germline" "" "rs2593107" "0" "" "" "g.53959892C>T" "" "benign" "" "0000374360" "10" "11" "10" "55779915" "55779915" "subst" "0.64799" "02416" "PCDH15_000014" "g.55779915G>A" "" "{PMID:Roux 2006:16679490}" "-MwoI" "" "homozygous" "Germline" "" "rs3812658" "0" "" "" "g.54020155G>A" "" "benign" "" "0000374361" "20" "11" "10" "55779915" "55779915" "subst" "0.64799" "02416" "PCDH15_000014" "g.55779915G>A" "" "{PMID:Roux 2006:16679490}" "-MwoI" "" "homozygous" "Germline" "" "rs3812658" "0" "" "" "g.54020155G>A" "" "benign" "" "0000374362" "10" "11" "10" "55779915" "55779915" "subst" "0.64799" "02416" "PCDH15_000014" "g.55779915G>A" "" "{PMID:Roux 2006:16679490}" "-MwoI" "" "homozygous" "Germline" "" "rs3812658" "0" "" "" "g.54020155G>A" "" "benign" "" "0000374363" "20" "11" "10" "55779915" "55779915" "subst" "0.64799" "02416" "PCDH15_000014" "g.55779915G>A" "" "{PMID:Roux 2006:16679490}" "-MwoI" "" "homozygous" "Germline" "" "rs3812658" "0" "" "" "g.54020155G>A" "" "benign" "" "0000374364" "10" "11" "10" "55779915" "55779915" "subst" "0.64799" "02416" "PCDH15_000014" "g.55779915G>A" "" "{PMID:Roux 2006:16679490}" "-MwoI" "" "homozygous" "Germline" "" "rs3812658" "0" "" "" "g.54020155G>A" "" "benign" "" "0000374365" "20" "11" "10" "55779915" "55779915" "subst" "0.64799" "02416" "PCDH15_000014" "g.55779915G>A" "" "{PMID:Roux 2006:16679490}" "-MwoI" "" "homozygous" "Germline" "" "rs3812658" "0" "" "" "g.54020155G>A" "" "benign" "" "0000374366" "10" "11" "10" "55779915" "55779915" "subst" "0.64799" "02416" "PCDH15_000014" "g.55779915G>A" "" "{PMID:Roux 2006:16679490}" "-MwoI" "" "homozygous" "Germline" "" "rs3812658" "0" "" "" "g.54020155G>A" "" "benign" "" "0000374367" "20" "11" "10" "55779915" "55779915" "subst" "0.64799" "02416" "PCDH15_000014" "g.55779915G>A" "" "{PMID:Roux 2006:16679490}" "-MwoI" "" "homozygous" "Germline" "" "rs3812658" "0" "" "" "g.54020155G>A" "" "benign" "" "0000374368" "10" "11" "10" "55779915" "55779915" "subst" "0.64799" "02416" "PCDH15_000014" "g.55779915G>A" "" "{PMID:Roux 2006:16679490}" "-MwoI" "" "homozygous" "Germline" "" "rs3812658" "0" "" "" "g.54020155G>A" "" "benign" "" "0000374369" "20" "11" "10" "55779915" "55779915" "subst" "0.64799" "02416" "PCDH15_000014" "g.55779915G>A" "" "{PMID:Roux 2006:16679490}" "-MwoI" "" "homozygous" "Germline" "" "rs3812658" "0" "" "" "g.54020155G>A" "" "benign" "" "0000374370" "0" "11" "10" "55779915" "55779915" "subst" "0.64799" "02416" "PCDH15_000014" "g.55779915G>A" "" "{PMID:Roux 2011:21436283}" "-MwoI" "" "heterozygous" "Germline" "" "rs3812658" "0" "" "" "g.54020155G>A" "" "benign" "" "0000374371" "10" "11" "10" "55779915" "55779915" "subst" "0.64799" "02416" "PCDH15_000014" "g.55779915G>A" "" "{PMID:Roux 2011:21436283}" "-MwoI" "" "homozygous" "Germline" "" "rs3812658" "0" "" "" "g.54020155G>A" "" "benign" "" "0000374372" "20" "11" "10" "55779915" "55779915" "subst" "0.64799" "02416" "PCDH15_000014" "g.55779915G>A" "" "{PMID:Roux 2011:21436283}" "-MwoI" "" "homozygous" "Germline" "" "rs3812658" "0" "" "" "g.54020155G>A" "" "benign" "" "0000374373" "11" "11" "10" "55779915" "55779915" "subst" "0.64799" "02416" "PCDH15_000014" "g.55779915G>A" "" "{PMID:Roux 2011:21436283}" "-MwoI" "" "hemizygous" "Germline" "" "rs3812658" "0" "" "" "g.54020155G>A" "" "benign" "" "0000374377" "10" "11" "10" "55892621" "55892622" "dup" "0" "02416" "PCDH15_000015" "g.55892621_55892622dup" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "rs5785040" "0" "" "" "g.54132861_54132862dup" "" "benign" "" "0000374378" "10" "11" "10" "55892621" "55892622" "dup" "0" "02416" "PCDH15_000015" "g.55892621_55892622dup" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "rs5785040" "0" "" "" "g.54132861_54132862dup" "" "benign" "" "0000374379" "0" "11" "10" "55892621" "55892622" "dup" "0" "02416" "PCDH15_000015" "g.55892621_55892622dup" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "rs5785040" "0" "" "" "g.54132861_54132862dup" "" "benign" "" "0000374380" "20" "11" "10" "55892621" "55892622" "dup" "0" "02416" "PCDH15_000015" "g.55892621_55892622dup" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "rs5785040" "0" "" "" "g.54132861_54132862dup" "" "benign" "" "0000374381" "20" "11" "10" "55892621" "55892622" "dup" "0" "02416" "PCDH15_000015" "g.55892621_55892622dup" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "rs5785040" "0" "" "" "g.54132861_54132862dup" "" "benign" "" "0000374382" "10" "11" "10" "55943184" "55943184" "subst" "0.661706" "02416" "PCDH15_000016" "g.55943184T>C" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs7093302" "0" "" "" "g.54183424T>C" "" "benign" "" "0000374383" "20" "11" "10" "55943184" "55943184" "subst" "0.661706" "02416" "PCDH15_000016" "g.55943184T>C" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs7093302" "0" "" "" "g.54183424T>C" "" "benign" "" "0000374384" "10" "11" "10" "55943184" "55943184" "subst" "0.661706" "02416" "PCDH15_000016" "g.55943184T>C" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs7093302" "0" "" "" "g.54183424T>C" "" "benign" "" "0000374385" "20" "11" "10" "55943184" "55943184" "subst" "0.661706" "02416" "PCDH15_000016" "g.55943184T>C" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs7093302" "0" "" "" "g.54183424T>C" "" "benign" "" "0000374386" "10" "11" "10" "55943184" "55943184" "subst" "0.661706" "02416" "PCDH15_000016" "g.55943184T>C" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs7093302" "0" "" "" "g.54183424T>C" "" "benign" "" "0000374387" "20" "11" "10" "55943184" "55943184" "subst" "0.661706" "02416" "PCDH15_000016" "g.55943184T>C" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs7093302" "0" "" "" "g.54183424T>C" "" "benign" "" "0000374388" "0" "11" "10" "55943184" "55943184" "subst" "0.661706" "02416" "PCDH15_000016" "g.55943184T>C" "" "{PMID:Roux 2006:16679490}" "none" "" "heterozygous" "Germline" "" "rs7093302" "0" "" "" "g.54183424T>C" "" "benign" "" "0000374389" "10" "11" "10" "55943184" "55943184" "subst" "0.661706" "02416" "PCDH15_000016" "g.55943184T>C" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs7093302" "0" "" "" "g.54183424T>C" "" "benign" "" "0000374390" "20" "11" "10" "55943184" "55943184" "subst" "0.661706" "02416" "PCDH15_000016" "g.55943184T>C" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs7093302" "0" "" "" "g.54183424T>C" "" "benign" "" "0000374391" "10" "11" "10" "55943184" "55943184" "subst" "0.661706" "02416" "PCDH15_000016" "g.55943184T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs7093302" "0" "" "" "g.54183424T>C" "" "benign" "" "0000374392" "20" "11" "10" "55943184" "55943184" "subst" "0.661706" "02416" "PCDH15_000016" "g.55943184T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs7093302" "0" "" "" "g.54183424T>C" "" "benign" "" "0000374393" "10" "11" "10" "55943184" "55943184" "subst" "0.661706" "02416" "PCDH15_000016" "g.55943184T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs7093302" "0" "" "" "g.54183424T>C" "" "benign" "" "0000374394" "20" "11" "10" "55943184" "55943184" "subst" "0.661706" "02416" "PCDH15_000016" "g.55943184T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs7093302" "0" "" "" "g.54183424T>C" "" "benign" "" "0000374395" "10" "11" "10" "55943184" "55943184" "subst" "0.661706" "02416" "PCDH15_000016" "g.55943184T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs7093302" "0" "" "" "g.54183424T>C" "" "benign" "" "0000374396" "20" "11" "10" "55943184" "55943184" "subst" "0.661706" "02416" "PCDH15_000016" "g.55943184T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs7093302" "0" "" "" "g.54183424T>C" "" "benign" "" "0000374404" "0" "11" "10" "55973889" "55973889" "subst" "0" "02416" "PCDH15_000017" "g.55973889G>A" "" "{PMID:Roux 2006:16679490}" "-Bpu10I;-AluI;-CviKI_1;-BbvCI;-MspA1I;-PvuII;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.54214129G>A" "" "benign" "" "0000374405" "10" "11" "10" "55973889" "55973889" "subst" "0" "02416" "PCDH15_000017" "g.55973889G>A" "" "{PMID:Roux 2006:16679490}" "-Bpu10I;-AluI;-CviKI_1;-BbvCI;-MspA1I;-PvuII;" "" "homozygous" "Germline" "" "" "0" "" "" "g.54214129G>A" "" "benign" "" "0000374406" "20" "11" "10" "55973889" "55973889" "subst" "0" "02416" "PCDH15_000017" "g.55973889G>A" "" "{PMID:Roux 2006:16679490}" "-Bpu10I;-AluI;-CviKI_1;-BbvCI;-MspA1I;-PvuII;" "" "homozygous" "Germline" "" "" "0" "" "" "g.54214129G>A" "" "benign" "" "0000374407" "10" "11" "10" "55973889" "55973889" "subst" "0" "02416" "PCDH15_000017" "g.55973889G>A" "" "{PMID:Roux 2006:16679490}" "-Bpu10I;-AluI;-CviKI_1;-BbvCI;-MspA1I;-PvuII;" "" "homozygous" "Germline" "" "" "0" "" "" "g.54214129G>A" "" "benign" "" "0000374408" "20" "11" "10" "55973889" "55973889" "subst" "0" "02416" "PCDH15_000017" "g.55973889G>A" "" "{PMID:Roux 2006:16679490}" "-Bpu10I;-AluI;-CviKI_1;-BbvCI;-MspA1I;-PvuII;" "" "homozygous" "Germline" "" "" "0" "" "" "g.54214129G>A" "" "benign" "" "0000374409" "10" "11" "10" "55973889" "55973889" "subst" "0" "02416" "PCDH15_000017" "g.55973889G>A" "" "{PMID:Roux 2006:16679490}" "-Bpu10I;-AluI;-CviKI_1;-BbvCI;-MspA1I;-PvuII;" "" "homozygous" "Germline" "" "" "0" "" "" "g.54214129G>A" "" "benign" "" "0000374410" "20" "11" "10" "55973889" "55973889" "subst" "0" "02416" "PCDH15_000017" "g.55973889G>A" "" "{PMID:Roux 2006:16679490}" "-Bpu10I;-AluI;-CviKI_1;-BbvCI;-MspA1I;-PvuII;" "" "homozygous" "Germline" "" "" "0" "" "" "g.54214129G>A" "" "benign" "" "0000374411" "10" "11" "10" "55973889" "55973889" "subst" "0" "02416" "PCDH15_000017" "g.55973889G>A" "" "{PMID:Roux 2006:16679490}" "-Bpu10I;-AluI;-CviKI_1;-BbvCI;-MspA1I;-PvuII;" "" "homozygous" "Germline" "" "" "0" "" "" "g.54214129G>A" "" "benign" "" "0000374412" "20" "11" "10" "55973889" "55973889" "subst" "0" "02416" "PCDH15_000017" "g.55973889G>A" "" "{PMID:Roux 2006:16679490}" "-Bpu10I;-AluI;-CviKI_1;-BbvCI;-MspA1I;-PvuII;" "" "homozygous" "Germline" "" "" "0" "" "" "g.54214129G>A" "" "benign" "" "0000374413" "10" "11" "10" "55973889" "55973889" "subst" "0" "02416" "PCDH15_000017" "g.55973889G>A" "" "{PMID:Roux 2011:21436283}" "-Bpu10I;-AluI;-CviKI_1;-BbvCI;-MspA1I;-PvuII;" "" "homozygous" "Germline" "" "" "0" "" "" "g.54214129G>A" "" "benign" "" "0000374414" "20" "11" "10" "55973889" "55973889" "subst" "0" "02416" "PCDH15_000017" "g.55973889G>A" "" "{PMID:Roux 2011:21436283}" "-Bpu10I;-AluI;-CviKI_1;-BbvCI;-MspA1I;-PvuII;" "" "homozygous" "Germline" "" "" "0" "" "" "g.54214129G>A" "" "benign" "" "0000374415" "0" "11" "10" "55973889" "55973889" "subst" "0" "02416" "PCDH15_000017" "g.55973889G>A" "" "{PMID:Roux 2011:21436283}" "-Bpu10I;-AluI;-CviKI_1;-BbvCI;-MspA1I;-PvuII;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.54214129G>A" "" "benign" "" "0000374416" "10" "11" "10" "55973889" "55973889" "subst" "0" "02416" "PCDH15_000017" "g.55973889G>A" "" "{PMID:Roux 2011:21436283}" "-Bpu10I;-AluI;-CviKI_1;-BbvCI;-MspA1I;-PvuII;" "" "homozygous" "Germline" "" "" "0" "" "" "g.54214129G>A" "" "benign" "" "0000374417" "20" "11" "10" "55973889" "55973889" "subst" "0" "02416" "PCDH15_000017" "g.55973889G>A" "" "{PMID:Roux 2011:21436283}" "-Bpu10I;-AluI;-CviKI_1;-BbvCI;-MspA1I;-PvuII;" "" "homozygous" "Germline" "" "" "0" "" "" "g.54214129G>A" "" "benign" "" "0000374418" "10" "11" "10" "55973889" "55973889" "subst" "0" "02416" "PCDH15_000017" "g.55973889G>A" "" "{PMID:Roux 2011:21436283}" "-Bpu10I;-AluI;-CviKI_1;-BbvCI;-MspA1I;-PvuII;" "" "homozygous" "Germline" "" "" "0" "" "" "g.54214129G>A" "" "benign" "" "0000374419" "20" "11" "10" "55973889" "55973889" "subst" "0" "02416" "PCDH15_000017" "g.55973889G>A" "" "{PMID:Roux 2011:21436283}" "-Bpu10I;-AluI;-CviKI_1;-BbvCI;-MspA1I;-PvuII;" "" "homozygous" "Germline" "" "" "0" "" "" "g.54214129G>A" "" "benign" "" "0000374427" "10" "11" "10" "55996761" "55996761" "subst" "0" "02416" "PCDH15_000018" "g.55996761C>T" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "homozygous" "Germline" "" "rs721825" "0" "" "" "g.54237001C>T" "" "benign" "" "0000374428" "20" "11" "10" "55996761" "55996761" "subst" "0" "02416" "PCDH15_000018" "g.55996761C>T" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "homozygous" "Germline" "" "rs721825" "0" "" "" "g.54237001C>T" "" "benign" "" "0000374429" "10" "11" "10" "55996761" "55996761" "subst" "0" "02416" "PCDH15_000018" "g.55996761C>T" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "homozygous" "Germline" "" "rs721825" "0" "" "" "g.54237001C>T" "" "benign" "" "0000374430" "20" "11" "10" "55996761" "55996761" "subst" "0" "02416" "PCDH15_000018" "g.55996761C>T" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "homozygous" "Germline" "" "rs721825" "0" "" "" "g.54237001C>T" "" "benign" "" "0000374431" "10" "11" "10" "55996761" "55996761" "subst" "0" "02416" "PCDH15_000018" "g.55996761C>T" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "homozygous" "Germline" "" "rs721825" "0" "" "" "g.54237001C>T" "" "benign" "" "0000374432" "20" "11" "10" "55996761" "55996761" "subst" "0" "02416" "PCDH15_000018" "g.55996761C>T" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "homozygous" "Germline" "" "rs721825" "0" "" "" "g.54237001C>T" "" "benign" "" "0000374433" "10" "11" "10" "55996761" "55996761" "subst" "0" "02416" "PCDH15_000018" "g.55996761C>T" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "homozygous" "Germline" "" "rs721825" "0" "" "" "g.54237001C>T" "" "benign" "" "0000374434" "20" "11" "10" "55996761" "55996761" "subst" "0" "02416" "PCDH15_000018" "g.55996761C>T" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "homozygous" "Germline" "" "rs721825" "0" "" "" "g.54237001C>T" "" "benign" "" "0000374435" "10" "11" "10" "55996761" "55996761" "subst" "0" "02416" "PCDH15_000018" "g.55996761C>T" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "homozygous" "Germline" "" "rs721825" "0" "" "" "g.54237001C>T" "" "benign" "" "0000374436" "20" "11" "10" "55996761" "55996761" "subst" "0" "02416" "PCDH15_000018" "g.55996761C>T" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "homozygous" "Germline" "" "rs721825" "0" "" "" "g.54237001C>T" "" "benign" "" "0000374437" "10" "11" "10" "55996761" "55996761" "subst" "0" "02416" "PCDH15_000018" "g.55996761C>T" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "homozygous" "Germline" "" "rs721825" "0" "" "" "g.54237001C>T" "" "benign" "" "0000374438" "20" "11" "10" "55996761" "55996761" "subst" "0" "02416" "PCDH15_000018" "g.55996761C>T" "" "{PMID:Roux 2006:16679490}" "-SfaNI" "" "homozygous" "Germline" "" "rs721825" "0" "" "" "g.54237001C>T" "" "benign" "" "0000374439" "10" "11" "10" "55996761" "55996761" "subst" "0" "02416" "PCDH15_000018" "g.55996761C>T" "" "{PMID:Roux 2011:21436283}" "-SfaNI" "" "homozygous" "Germline" "" "rs721825" "0" "" "" "g.54237001C>T" "" "benign" "" "0000374440" "20" "11" "10" "55996761" "55996761" "subst" "0" "02416" "PCDH15_000018" "g.55996761C>T" "" "{PMID:Roux 2011:21436283}" "-SfaNI" "" "homozygous" "Germline" "" "rs721825" "0" "" "" "g.54237001C>T" "" "benign" "" "0000374441" "0" "11" "10" "55996761" "55996761" "subst" "0" "02416" "PCDH15_000018" "g.55996761C>T" "" "{PMID:Roux 2011:21436283}" "-SfaNI" "" "heterozygous" "Germline" "" "rs721825" "0" "" "" "g.54237001C>T" "" "benign" "" "0000374442" "10" "11" "10" "55996761" "55996761" "subst" "0" "02416" "PCDH15_000018" "g.55996761C>T" "" "{PMID:Roux 2011:21436283}" "-SfaNI" "" "homozygous" "Germline" "" "rs721825" "0" "" "" "g.54237001C>T" "" "benign" "" "0000374443" "20" "11" "10" "55996761" "55996761" "subst" "0" "02416" "PCDH15_000018" "g.55996761C>T" "" "{PMID:Roux 2011:21436283}" "-SfaNI" "" "homozygous" "Germline" "" "rs721825" "0" "" "" "g.54237001C>T" "" "benign" "" "0000374444" "10" "11" "10" "55996761" "55996761" "subst" "0" "02416" "PCDH15_000018" "g.55996761C>T" "" "{PMID:Roux 2011:21436283}" "-SfaNI" "" "homozygous" "Germline" "" "rs721825" "0" "" "" "g.54237001C>T" "" "benign" "" "0000374445" "20" "11" "10" "55996761" "55996761" "subst" "0" "02416" "PCDH15_000018" "g.55996761C>T" "" "{PMID:Roux 2011:21436283}" "-SfaNI" "" "homozygous" "Germline" "" "rs721825" "0" "" "" "g.54237001C>T" "" "benign" "" "0000374453" "0" "11" "10" "56076975" "56076975" "subst" "0" "02416" "PCDH15_000019" "g.56076975A>C" "" "{PMID:Roux 2006:16679490}" "+NspI;-AlwI;-Sau3AI;-MboI;-DpnI;-BfuCI;" "" "heterozygous" "Germline" "" "rs10763098" "0" "" "" "g.54317215A>C" "" "benign" "" "0000374454" "10" "11" "10" "56076975" "56076975" "subst" "0" "02416" "PCDH15_000019" "g.56076975A>C" "" "{PMID:Roux 2006:16679490}" "+NspI;-AlwI;-Sau3AI;-MboI;-DpnI;-BfuCI;" "" "homozygous" "Germline" "" "rs10763098" "0" "" "" "g.54317215A>C" "" "benign" "" "0000374455" "20" "11" "10" "56076975" "56076975" "subst" "0" "02416" "PCDH15_000019" "g.56076975A>C" "" "{PMID:Roux 2006:16679490}" "+NspI;-AlwI;-Sau3AI;-MboI;-DpnI;-BfuCI;" "" "homozygous" "Germline" "" "rs10763098" "0" "" "" "g.54317215A>C" "" "benign" "" "0000374456" "2" "11" "10" "56076975" "56076975" "subst" "0" "02416" "PCDH15_000019" "g.56076975A>C" "" "{PMID:Roux 2006:16679490}" "+NspI;-AlwI;-Sau3AI;-MboI;-DpnI;-BfuCI;" "" "hemizygous" "Germline" "" "rs10763098" "0" "" "" "g.54317215A>C" "" "benign" "" "0000374457" "2" "11" "10" "56076975" "56076975" "subst" "0" "02416" "PCDH15_000019" "g.56076975A>C" "" "{PMID:Roux 2006:16679490}" "+NspI;-AlwI;-Sau3AI;-MboI;-DpnI;-BfuCI;" "" "heterozygous" "Germline" "" "rs10763098" "0" "" "" "g.54317215A>C" "" "benign" "" "0000374458" "10" "11" "10" "56076975" "56076975" "subst" "0" "02416" "PCDH15_000019" "g.56076975A>C" "" "{PMID:Roux 2006:16679490}" "+NspI;-AlwI;-Sau3AI;-MboI;-DpnI;-BfuCI;" "" "homozygous" "Germline" "" "rs10763098" "0" "" "" "g.54317215A>C" "" "benign" "" "0000374459" "20" "11" "10" "56076975" "56076975" "subst" "0" "02416" "PCDH15_000019" "g.56076975A>C" "" "{PMID:Roux 2006:16679490}" "+NspI;-AlwI;-Sau3AI;-MboI;-DpnI;-BfuCI;" "" "homozygous" "Germline" "" "rs10763098" "0" "" "" "g.54317215A>C" "" "benign" "" "0000374460" "10" "11" "10" "56076975" "56076975" "subst" "0" "02416" "PCDH15_000019" "g.56076975A>C" "" "{PMID:Roux 2006:16679490}" "+NspI;-AlwI;-Sau3AI;-MboI;-DpnI;-BfuCI;" "" "homozygous" "Germline" "" "rs10763098" "0" "" "" "g.54317215A>C" "" "benign" "" "0000374461" "20" "11" "10" "56076975" "56076975" "subst" "0" "02416" "PCDH15_000019" "g.56076975A>C" "" "{PMID:Roux 2006:16679490}" "+NspI;-AlwI;-Sau3AI;-MboI;-DpnI;-BfuCI;" "" "homozygous" "Germline" "" "rs10763098" "0" "" "" "g.54317215A>C" "" "benign" "" "0000374462" "10" "11" "10" "56076975" "56076975" "subst" "0" "02416" "PCDH15_000019" "g.56076975A>C" "" "{PMID:Baux 2008:18484607}" "+NspI;-AlwI;-Sau3AI;-MboI;-DpnI;-BfuCI;" "" "homozygous" "Germline" "" "rs10763098" "0" "" "" "g.54317215A>C" "" "benign" "" "0000374463" "20" "11" "10" "56076975" "56076975" "subst" "0" "02416" "PCDH15_000019" "g.56076975A>C" "" "{PMID:Baux 2008:18484607}" "+NspI;-AlwI;-Sau3AI;-MboI;-DpnI;-BfuCI;" "" "homozygous" "Germline" "" "rs10763098" "0" "" "" "g.54317215A>C" "" "benign" "" "0000374464" "10" "11" "10" "56076975" "56076975" "subst" "0" "02416" "PCDH15_000019" "g.56076975A>C" "" "{PMID:Roux 2011:21436283}" "+NspI;-AlwI;-Sau3AI;-MboI;-DpnI;-BfuCI;" "" "homozygous" "Germline" "" "rs10763098" "0" "" "" "g.54317215A>C" "" "benign" "" "0000374465" "20" "11" "10" "56076975" "56076975" "subst" "0" "02416" "PCDH15_000019" "g.56076975A>C" "" "{PMID:Roux 2011:21436283}" "+NspI;-AlwI;-Sau3AI;-MboI;-DpnI;-BfuCI;" "" "homozygous" "Germline" "" "rs10763098" "0" "" "" "g.54317215A>C" "" "benign" "" "0000374466" "10" "11" "10" "56076975" "56076975" "subst" "0" "02416" "PCDH15_000019" "g.56076975A>C" "" "{PMID:Roux 2011:21436283}" "+NspI;-AlwI;-Sau3AI;-MboI;-DpnI;-BfuCI;" "" "homozygous" "Germline" "" "rs10763098" "0" "" "" "g.54317215A>C" "" "benign" "" "0000374467" "20" "11" "10" "56076975" "56076975" "subst" "0" "02416" "PCDH15_000019" "g.56076975A>C" "" "{PMID:Roux 2011:21436283}" "+NspI;-AlwI;-Sau3AI;-MboI;-DpnI;-BfuCI;" "" "homozygous" "Germline" "" "rs10763098" "0" "" "" "g.54317215A>C" "" "benign" "" "0000374468" "10" "11" "10" "56076975" "56076975" "subst" "0" "02419" "PCDH15_000019" "g.56076975A>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+NspI;-AlwI;-Sau3AI;-MboI;-DpnI;-BfuCI;" "" "homozygous; Neutral" "Germline" "" "rs10763098" "0" "" "" "g.54317215A>C" "" "benign" "" "0000374469" "20" "11" "10" "56076975" "56076975" "subst" "0" "02419" "PCDH15_000019" "g.56076975A>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+NspI;-AlwI;-Sau3AI;-MboI;-DpnI;-BfuCI;" "" "homozygous; Neutral" "Germline" "" "rs10763098" "0" "" "" "g.54317215A>C" "" "benign" "" "0000374477" "10" "11" "10" "56077209" "56077209" "subst" "0.657115" "02416" "PCDH15_000020" "g.56077209G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs10740579" "0" "" "" "g.54317449G>A" "" "benign" "" "0000374478" "20" "11" "10" "56077209" "56077209" "subst" "0.657115" "02416" "PCDH15_000020" "g.56077209G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs10740579" "0" "" "" "g.54317449G>A" "" "benign" "" "0000374479" "10" "11" "10" "56077209" "56077209" "subst" "0.657115" "02416" "PCDH15_000020" "g.56077209G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs10740579" "0" "" "" "g.54317449G>A" "" "benign" "" "0000374480" "20" "11" "10" "56077209" "56077209" "subst" "0.657115" "02416" "PCDH15_000020" "g.56077209G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs10740579" "0" "" "" "g.54317449G>A" "" "benign" "" "0000374481" "2" "11" "10" "56077209" "56077209" "subst" "0.657115" "02416" "PCDH15_000020" "g.56077209G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "hemizygous" "Germline" "" "rs10740579" "0" "" "" "g.54317449G>A" "" "benign" "" "0000374482" "10" "11" "10" "56077209" "56077209" "subst" "0.657115" "02416" "PCDH15_000020" "g.56077209G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs10740579" "0" "" "" "g.54317449G>A" "" "benign" "" "0000374483" "20" "11" "10" "56077209" "56077209" "subst" "0.657115" "02416" "PCDH15_000020" "g.56077209G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs10740579" "0" "" "" "g.54317449G>A" "" "benign" "" "0000374484" "10" "11" "10" "56077209" "56077209" "subst" "0.657115" "02416" "PCDH15_000020" "g.56077209G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs10740579" "0" "" "" "g.54317449G>A" "" "benign" "" "0000374485" "20" "11" "10" "56077209" "56077209" "subst" "0.657115" "02416" "PCDH15_000020" "g.56077209G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs10740579" "0" "" "" "g.54317449G>A" "" "benign" "" "0000374486" "10" "11" "10" "56077209" "56077209" "subst" "0.657115" "02416" "PCDH15_000020" "g.56077209G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs10740579" "0" "" "" "g.54317449G>A" "" "benign" "" "0000374487" "20" "11" "10" "56077209" "56077209" "subst" "0.657115" "02416" "PCDH15_000020" "g.56077209G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs10740579" "0" "" "" "g.54317449G>A" "" "benign" "" "0000374488" "10" "11" "10" "56077209" "56077209" "subst" "0.657115" "02416" "PCDH15_000020" "g.56077209G>A" "" "{PMID:Baux 2008:18484607}" "none" "" "homozygous" "Germline" "" "rs10740579" "0" "" "" "g.54317449G>A" "" "benign" "" "0000374489" "20" "11" "10" "56077209" "56077209" "subst" "0.657115" "02416" "PCDH15_000020" "g.56077209G>A" "" "{PMID:Baux 2008:18484607}" "none" "" "homozygous" "Germline" "" "rs10740579" "0" "" "" "g.54317449G>A" "" "benign" "" "0000374490" "10" "11" "10" "56077209" "56077209" "subst" "0.657115" "02416" "PCDH15_000020" "g.56077209G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs10740579" "0" "" "" "g.54317449G>A" "" "benign" "" "0000374491" "10" "11" "10" "56077209" "56077209" "subst" "0.657115" "02416" "PCDH15_000020" "g.56077209G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs10740579" "0" "" "" "g.54317449G>A" "" "benign" "" "0000374492" "20" "11" "10" "56077209" "56077209" "subst" "0.657115" "02416" "PCDH15_000020" "g.56077209G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs10740579" "0" "" "" "g.54317449G>A" "" "benign" "" "0000374493" "0" "11" "10" "56077209" "56077209" "subst" "0.657115" "02416" "PCDH15_000020" "g.56077209G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs10740579" "0" "" "" "g.54317449G>A" "" "benign" "" "0000374494" "20" "11" "10" "56077209" "56077209" "subst" "0.657115" "02416" "PCDH15_000020" "g.56077209G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs10740579" "0" "" "" "g.54317449G>A" "" "benign" "" "0000374495" "10" "11" "10" "56077209" "56077209" "subst" "0.657115" "02416" "PCDH15_000020" "g.56077209G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs10740579" "0" "" "" "g.54317449G>A" "" "benign" "" "0000374496" "20" "11" "10" "56077209" "56077209" "subst" "0.657115" "02416" "PCDH15_000020" "g.56077209G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs10740579" "0" "" "" "g.54317449G>A" "" "benign" "" "0000374497" "10" "11" "10" "56077209" "56077209" "subst" "0.657115" "02416" "PCDH15_000020" "g.56077209G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs10740579" "0" "" "" "g.54317449G>A" "" "benign" "" "0000374498" "20" "11" "10" "56077209" "56077209" "subst" "0.657115" "02416" "PCDH15_000020" "g.56077209G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs10740579" "0" "" "" "g.54317449G>A" "" "benign" "" "0000374506" "10" "11" "10" "56089263" "56089263" "subst" "0" "02416" "PCDH15_000021" "g.56089263G>A" "" "{PMID:Roux 2006:16679490}" "+Tsp45I" "" "homozygous" "Germline" "" "rs857395" "0" "" "" "g.54329503G>A" "" "benign" "" "0000374507" "10" "11" "10" "56089263" "56089263" "subst" "0" "02416" "PCDH15_000021" "g.56089263G>A" "" "{PMID:Roux 2006:16679490}" "+Tsp45I" "" "homozygous" "Germline" "" "rs857395" "0" "" "" "g.54329503G>A" "" "benign" "" "0000374508" "10" "11" "10" "56089263" "56089263" "subst" "0" "02416" "PCDH15_000021" "g.56089263G>A" "" "{PMID:Roux 2006:16679490}" "+Tsp45I" "" "homozygous" "Germline" "" "rs857395" "0" "" "" "g.54329503G>A" "" "benign" "" "0000374509" "20" "11" "10" "56089263" "56089263" "subst" "0" "02416" "PCDH15_000021" "g.56089263G>A" "" "{PMID:Roux 2006:16679490}" "+Tsp45I" "" "homozygous" "Germline" "" "rs857395" "0" "" "" "g.54329503G>A" "" "benign" "" "0000374510" "10" "11" "10" "56089263" "56089263" "subst" "0" "02416" "PCDH15_000021" "g.56089263G>A" "" "{PMID:Roux 2006:16679490}" "+Tsp45I" "" "homozygous" "Germline" "" "rs857395" "0" "" "" "g.54329503G>A" "" "benign" "" "0000374511" "20" "11" "10" "56089263" "56089263" "subst" "0" "02416" "PCDH15_000021" "g.56089263G>A" "" "{PMID:Roux 2006:16679490}" "+Tsp45I" "" "homozygous" "Germline" "" "rs857395" "0" "" "" "g.54329503G>A" "" "benign" "" "0000374512" "2" "11" "10" "56089263" "56089263" "subst" "0" "02416" "PCDH15_000021" "g.56089263G>A" "" "{PMID:Roux 2006:16679490}" "+Tsp45I" "" "hemizygous" "Germline" "" "rs857395" "0" "" "" "g.54329503G>A" "" "benign" "" "0000374513" "0" "11" "10" "56089263" "56089263" "subst" "0" "02416" "PCDH15_000021" "g.56089263G>A" "" "{PMID:Roux 2006:16679490}" "+Tsp45I" "" "heterozygous" "Germline" "" "rs857395" "0" "" "" "g.54329503G>A" "" "benign" "" "0000374514" "20" "11" "10" "56089263" "56089263" "subst" "0" "02416" "PCDH15_000021" "g.56089263G>A" "" "{PMID:Roux 2006:16679490}" "+Tsp45I" "" "homozygous" "Germline" "" "rs857395" "0" "" "" "g.54329503G>A" "" "benign" "" "0000374515" "20" "11" "10" "56089263" "56089263" "subst" "0" "02416" "PCDH15_000021" "g.56089263G>A" "" "{PMID:Roux 2006:16679490}" "+Tsp45I" "" "homozygous" "Germline" "" "rs857395" "0" "" "" "g.54329503G>A" "" "benign" "" "0000374516" "10" "11" "10" "56089263" "56089263" "subst" "0" "02416" "PCDH15_000021" "g.56089263G>A" "" "{PMID:Baux 2008:18484607}" "+Tsp45I" "" "homozygous" "Germline" "" "rs857395" "0" "" "" "g.54329503G>A" "" "benign" "" "0000374517" "20" "11" "10" "56089263" "56089263" "subst" "0" "02416" "PCDH15_000021" "g.56089263G>A" "" "{PMID:Baux 2008:18484607}" "+Tsp45I" "" "homozygous" "Germline" "" "rs857395" "0" "" "" "g.54329503G>A" "" "benign" "" "0000374518" "10" "11" "10" "56089263" "56089263" "subst" "0" "02416" "PCDH15_000021" "g.56089263G>A" "" "{PMID:Roux 2011:21436283}" "+Tsp45I" "" "homozygous" "Germline" "" "rs857395" "0" "" "" "g.54329503G>A" "" "benign" "" "0000374519" "20" "11" "10" "56089263" "56089263" "subst" "0" "02416" "PCDH15_000021" "g.56089263G>A" "" "{PMID:Roux 2011:21436283}" "+Tsp45I" "" "homozygous" "Germline" "" "rs857395" "0" "" "" "g.54329503G>A" "" "benign" "" "0000374520" "0" "11" "10" "56089263" "56089263" "subst" "0" "02416" "PCDH15_000021" "g.56089263G>A" "" "{PMID:Roux 2011:21436283}" "+Tsp45I" "" "heterozygous" "Germline" "" "rs857395" "0" "" "" "g.54329503G>A" "" "benign" "" "0000374521" "10" "11" "10" "56089263" "56089263" "subst" "0" "02416" "PCDH15_000021" "g.56089263G>A" "" "{PMID:Roux 2011:21436283}" "+Tsp45I" "" "homozygous" "Germline" "" "rs857395" "0" "" "" "g.54329503G>A" "" "benign" "" "0000374522" "20" "11" "10" "56089263" "56089263" "subst" "0" "02416" "PCDH15_000021" "g.56089263G>A" "" "{PMID:Roux 2011:21436283}" "+Tsp45I" "" "homozygous" "Germline" "" "rs857395" "0" "" "" "g.54329503G>A" "" "benign" "" "0000374523" "10" "11" "10" "56089263" "56089263" "subst" "0" "02416" "PCDH15_000021" "g.56089263G>A" "" "{PMID:Roux 2011:21436283}" "+Tsp45I" "" "homozygous" "Germline" "" "rs857395" "0" "" "" "g.54329503G>A" "" "benign" "" "0000374524" "20" "11" "10" "56089263" "56089263" "subst" "0" "02416" "PCDH15_000021" "g.56089263G>A" "" "{PMID:Roux 2011:21436283}" "+Tsp45I" "" "homozygous" "Germline" "" "rs857395" "0" "" "" "g.54329503G>A" "" "benign" "" "0000374532" "1" "99" "10" "55719493" "55719493" "subst" "0" "02416" "PCDH15_000022" "g.55719493T>A" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.53959733T>A" "" "pathogenic" "" "0000374533" "10" "99" "10" "55849814" "55849814" "subst" "0" "02416" "PCDH15_000023" "g.55849814G>A" "0/200 controls" "{PMID:Ahmed 2003:14570705}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54090054G>A" "" "pathogenic" "" "0000374534" "10" "99" "10" "55849814" "55849814" "subst" "0" "02416" "PCDH15_000023" "g.55849814G>A" "0/200 controls" "{PMID:Ahmed 2003:14570705}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54090054G>A" "" "pathogenic" "" "0000374535" "10" "99" "10" "55849814" "55849814" "subst" "0" "02416" "PCDH15_000023" "g.55849814G>A" "0/200 controls" "{PMID:Ahmed 2003:14570705}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54090054G>A" "" "pathogenic" "" "0000374536" "20" "99" "10" "55849814" "55849814" "subst" "0" "02416" "PCDH15_000023" "g.55849814G>A" "0/200 controls" "{PMID:Ahmed 2003:14570705}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54090054G>A" "" "pathogenic" "" "0000374537" "20" "99" "10" "55849814" "55849814" "subst" "0" "02416" "PCDH15_000023" "g.55849814G>A" "0/200 controls" "{PMID:Ahmed 2003:14570705}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54090054G>A" "" "pathogenic" "" "0000374538" "20" "99" "10" "55849814" "55849814" "subst" "0" "02416" "PCDH15_000023" "g.55849814G>A" "0/200 controls" "{PMID:Ahmed 2003:14570705}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54090054G>A" "" "pathogenic" "" "0000374539" "2" "99" "10" "55849814" "55849814" "subst" "0" "02416" "PCDH15_000023" "g.55849814G>A" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.54090054G>A" "" "pathogenic" "" "0000374540" "10" "11" "10" "55626367" "55626367" "subst" "0.362784" "02416" "PCDH15_000024" "g.55626367A>G" "" "{PMID:Roux 2006:16679490}" "-AluI" "" "homozygous" "Germline" "" "rs10825135" "0" "" "" "g.53866607A>G" "" "benign" "" "0000374541" "20" "11" "10" "55626367" "55626367" "subst" "0.362784" "02416" "PCDH15_000024" "g.55626367A>G" "" "{PMID:Roux 2006:16679490}" "-AluI" "" "homozygous" "Germline" "" "rs10825135" "0" "" "" "g.53866607A>G" "" "benign" "" "0000374542" "0" "11" "10" "55626367" "55626367" "subst" "0.362784" "02416" "PCDH15_000024" "g.55626367A>G" "" "{PMID:Roux 2006:16679490}" "-AluI" "" "heterozygous" "Germline" "" "rs10825135" "0" "" "" "g.53866607A>G" "" "benign" "" "0000374543" "0" "11" "10" "55626367" "55626367" "subst" "0.362784" "02416" "PCDH15_000024" "g.55626367A>G" "" "{PMID:Roux 2006:16679490}" "-AluI" "" "heterozygous" "Germline" "" "rs10825135" "0" "" "" "g.53866607A>G" "" "benign" "" "0000374544" "10" "11" "10" "55626367" "55626367" "subst" "0.362784" "02416" "PCDH15_000024" "g.55626367A>G" "" "{PMID:Roux 2006:16679490}" "-AluI" "" "homozygous" "Germline" "" "rs10825135" "0" "" "" "g.53866607A>G" "" "benign" "" "0000374545" "20" "11" "10" "55626367" "55626367" "subst" "0.362784" "02416" "PCDH15_000024" "g.55626367A>G" "" "{PMID:Roux 2006:16679490}" "-AluI" "" "homozygous" "Germline" "" "rs10825135" "0" "" "" "g.53866607A>G" "" "benign" "" "0000374546" "0" "11" "10" "55626367" "55626367" "subst" "0.362784" "02416" "PCDH15_000024" "g.55626367A>G" "" "{PMID:Roux 2011:21436283}" "-AluI" "" "heterozygous" "Germline" "" "rs10825135" "0" "" "" "g.53866607A>G" "" "benign" "" "0000374547" "10" "11" "10" "55626367" "55626367" "subst" "0.362784" "02416" "PCDH15_000024" "g.55626367A>G" "" "{PMID:Roux 2011:21436283}" "-AluI" "" "homozygous" "Germline" "" "rs10825135" "0" "" "" "g.53866607A>G" "" "benign" "" "0000374548" "20" "11" "10" "55626367" "55626367" "subst" "0.362784" "02416" "PCDH15_000024" "g.55626367A>G" "" "{PMID:Roux 2011:21436283}" "-AluI" "" "homozygous" "Germline" "" "rs10825135" "0" "" "" "g.53866607A>G" "" "benign" "" "0000374549" "0" "11" "10" "55626367" "55626367" "subst" "0.362784" "02416" "PCDH15_000024" "g.55626367A>G" "" "{PMID:Roux 2011:21436283}" "-AluI" "" "heterozygous" "Germline" "" "rs10825135" "0" "" "" "g.53866607A>G" "" "benign" "" "0000374552" "2" "99" "10" "56077039" "56077039" "subst" "0" "02416" "PCDH15_000025" "g.56077039T>A" "" "{PMID:Roux 2006:16679490}" "" "" "" "Germline" "" "" "0" "" "" "g.54317279T>A" "" "pathogenic (recessive)" "" "0000374553" "1" "99" "10" "56077030" "56077202" "del" "0" "02416" "PCDH15_000026" "g.(55996692_56077030)_(56077202_56089355)del" "" "{PMID:Roux 2006:16679490}" "" "del ex8" "" "Germline" "" "" "0" "" "" "g.(54236932_54317270)_(54317442_54329595)del" "" "pathogenic (recessive)" "" "0000374554" "0" "11" "10" "55591313" "55591313" "subst" "0.429407" "02416" "PCDH15_000027" "g.55591313G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "heterozygous" "Germline" "" "rs7089209" "0" "" "" "g.53831553G>A" "" "benign" "" "0000374555" "0" "11" "10" "55591313" "55591313" "subst" "0.429407" "02416" "PCDH15_000027" "g.55591313G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "heterozygous" "Germline" "" "rs7089209" "0" "" "" "g.53831553G>A" "" "benign" "" "0000374556" "10" "11" "10" "55591313" "55591313" "subst" "0.429407" "02416" "PCDH15_000027" "g.55591313G>A" "" "{PMID:Baux 2008:18484607}" "none" "" "homozygous" "Germline" "" "rs7089209" "0" "" "" "g.53831553G>A" "" "benign" "" "0000374557" "20" "11" "10" "55591313" "55591313" "subst" "0.429407" "02416" "PCDH15_000027" "g.55591313G>A" "" "{PMID:Baux 2008:18484607}" "none" "" "homozygous" "Germline" "" "rs7089209" "0" "" "" "g.53831553G>A" "" "benign" "" "0000374558" "10" "11" "10" "55591313" "55591313" "subst" "0.429407" "02416" "PCDH15_000027" "g.55591313G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs7089209" "0" "" "" "g.53831553G>A" "" "benign" "" "0000374559" "20" "11" "10" "55591313" "55591313" "subst" "0.429407" "02416" "PCDH15_000027" "g.55591313G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs7089209" "0" "" "" "g.53831553G>A" "" "benign" "" "0000374560" "0" "11" "10" "55591313" "55591313" "subst" "0.429407" "02416" "PCDH15_000027" "g.55591313G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs7089209" "0" "" "" "g.53831553G>A" "" "benign" "" "0000374562" "0" "11" "10" "55826470" "55826470" "subst" "0.202544" "02416" "PCDH15_000028" "g.55826470A>G" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "rs3812657" "0" "" "" "g.54066710A>G" "" "benign" "" "0000374563" "0" "11" "10" "55826470" "55826470" "subst" "0.202544" "02416" "PCDH15_000028" "g.55826470A>G" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "rs3812657" "0" "" "" "g.54066710A>G" "" "benign" "" "0000374565" "2" "99" "10" "55973758" "55973758" "subst" "0" "02416" "PCDH15_000029" "g.55973758C>A" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.54213998C>A" "" "pathogenic" "" "0000374566" "1" "99" "10" "56077031" "56077041" "del" "0" "02416" "PCDH15_000030" "g.56077031_56077041del" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.54317271_54317281del" "" "pathogenic" "" "0000374567" "0" "11" "10" "55700804" "55700804" "subst" "0" "02416" "PCDH15_000031" "g.55700804A>C" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "rs79035890" "0" "" "" "g.53941044A>C" "" "benign" "" "0000374568" "0" "11" "10" "55755340" "55755340" "subst" "0" "02416" "PCDH15_000032" "g.55755340C>T" "" "{PMID:Roux 2006:16679490}" "-TfiI;-HinfI;" "" "heterozygous" "Germline" "" "rs11003980" "0" "" "" "g.53995580C>T" "" "benign" "" "0000374569" "0" "11" "10" "55755340" "55755340" "subst" "0" "02416" "PCDH15_000032" "g.55755340C>T" "" "{PMID:Roux 2011:21436283}" "-TfiI;-HinfI;" "" "heterozygous" "Germline" "" "rs11003980" "0" "" "" "g.53995580C>T" "" "benign" "" "0000374571" "3" "99" "10" "56560684" "56561051" "del" "0" "02416" "PCDH15_000033" "g.(56424051_56560684)_(56561051_?)del" "" "{PMID:Roux 2006:16679490}" "" "del ex1" "" "Germline" "" "" "0" "" "" "g.(54664291_54800924)_(54801291_?)del" "" "pathogenic (recessive)" "" "0000374575" "10" "11" "10" "55663069" "55663069" "subst" "0" "02416" "PCDH15_000034" "g.55663069C>T" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53903309C>T" "" "benign" "" "0000374576" "20" "11" "10" "55663069" "55663069" "subst" "0" "02416" "PCDH15_000034" "g.55663069C>T" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53903309C>T" "" "benign" "" "0000374577" "10" "11" "10" "55996608" "55996608" "subst" "0.0302854" "02416" "PCDH15_000035" "g.55996608T>C" "" "{PMID:Roux 2006:16679490}" "+MspI;+HpaII;+NciI;-PspGI;-BstNI;" "" "homozygous" "Germline" "" "rs41274634" "0" "" "" "g.54236848T>C" "" "benign" "" "0000374578" "20" "11" "10" "55996608" "55996608" "subst" "0.0302854" "02416" "PCDH15_000035" "g.55996608T>C" "" "{PMID:Roux 2006:16679490}" "+MspI;+HpaII;+NciI;-PspGI;-BstNI;" "" "homozygous" "Germline" "" "rs41274634" "0" "" "" "g.54236848T>C" "" "benign" "" "0000374579" "10" "11" "10" "55996608" "55996608" "subst" "0.0302854" "02419" "PCDH15_000035" "g.55996608T>C" "1/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MspI;+HpaII;+NciI;-PspGI;-BstNI;" "" "homozygous; Neutral" "Germline" "" "rs41274634" "0" "" "" "g.54236848T>C" "" "benign" "" "0000374580" "20" "11" "10" "55996608" "55996608" "subst" "0.0302854" "02419" "PCDH15_000035" "g.55996608T>C" "1/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MspI;+HpaII;+NciI;-PspGI;-BstNI;" "" "homozygous; Neutral" "Germline" "" "rs41274634" "0" "" "" "g.54236848T>C" "" "benign" "" "0000374581" "10" "11" "10" "56106247" "56106247" "subst" "0.00820126" "02416" "PCDH15_000036" "g.56106247G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs41304641" "0" "" "" "g.54346487G>A" "" "benign" "" "0000374582" "20" "11" "10" "56106247" "56106247" "subst" "0.00820126" "02416" "PCDH15_000036" "g.56106247G>A" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs41304641" "0" "" "" "g.54346487G>A" "" "benign" "" "0000374583" "0" "11" "10" "56106247" "56106247" "subst" "0.00820126" "02419" "PCDH15_000036" "g.56106247G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; Neutral" "Germline" "" "rs41304641" "0" "" "" "g.54346487G>A" "" "benign" "" "0000374584" "0" "11" "10" "56106247" "56106247" "subst" "0.00820126" "02419" "PCDH15_000036" "g.56106247G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; Neutral" "Germline" "" "rs41304641" "0" "" "" "g.54346487G>A" "" "benign" "" "0000374585" "0" "11" "10" "56106247" "56106247" "subst" "0.00820126" "02419" "PCDH15_000036" "g.56106247G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; Neutral" "Germline" "" "rs41304641" "0" "" "" "g.54346487G>A" "" "benign" "" "0000374586" "0" "11" "10" "56106247" "56106247" "subst" "0.00820126" "02419" "PCDH15_000036" "g.56106247G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; Neutral" "Germline" "" "rs41304641" "0" "" "" "g.54346487G>A" "" "benign" "" "0000374587" "0" "11" "10" "56106247" "56106247" "subst" "0.00820126" "02419" "PCDH15_000036" "g.56106247G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; Neutral" "Germline" "" "rs41304641" "0" "" "" "g.54346487G>A" "" "benign" "" "0000374588" "10" "99" "10" "55721550" "55721550" "subst" "2.03494E-5" "02416" "PCDH15_000037" "g.55721550G>A" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53961790G>A" "" "pathogenic" "" "0000374589" "20" "99" "10" "55721550" "55721550" "subst" "2.03494E-5" "02416" "PCDH15_000037" "g.55721550G>A" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53961790G>A" "" "pathogenic" "" "0000374590" "10" "99" "10" "55721550" "55721550" "subst" "2.03494E-5" "02416" "PCDH15_000037" "g.55721550G>A" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53961790G>A" "" "pathogenic" "" "0000374591" "20" "99" "10" "55721550" "55721550" "subst" "2.03494E-5" "02416" "PCDH15_000037" "g.55721550G>A" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53961790G>A" "" "pathogenic" "" "0000374592" "10" "99" "10" "55721550" "55721550" "subst" "2.03494E-5" "02416" "PCDH15_000037" "g.55721550G>A" "" "{PMID:Bonnet 2011:21569298}" "+FatI;+NlaIII;+CviAII;-BssSI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.53961790G>A" "" "pathogenic" "" "0000374593" "20" "99" "10" "55721550" "55721550" "subst" "2.03494E-5" "02416" "PCDH15_000037" "g.55721550G>A" "" "{PMID:Bonnet 2011:21569298}" "+FatI;+NlaIII;+CviAII;-BssSI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.53961790G>A" "" "pathogenic" "" "0000374594" "10" "99" "10" "55721550" "55721550" "subst" "2.03494E-5" "02416" "PCDH15_000037" "g.55721550G>A" "" "{PMID:Yoshimura 2014:24618850}" "" "" "homozygous; possible pathogenic" "Germline" "" "" "0" "" "" "g.53961790G>A" "" "pathogenic" "" "0000374595" "20" "99" "10" "55721550" "55721550" "subst" "2.03494E-5" "02416" "PCDH15_000037" "g.55721550G>A" "" "{PMID:Yoshimura 2014:24618850}" "" "" "homozygous; possible pathogenic" "Germline" "" "" "0" "" "" "g.53961790G>A" "" "pathogenic" "" "0000374598" "10" "11" "10" "55755491" "55755491" "subst" "0.25214" "02416" "PCDH15_000038" "g.55755491C>T" "" "{PMID:Roux 2006:16679490}; USMA-{USMAPCDH15R929Q:} USMA-{MSV3dQ96QU1p.Arg929Gln:}" "none" "" "homozygous" "Germline" "" "rs2135720" "0" "" "" "g.53995731C>T" "" "benign" "" "0000374599" "20" "11" "10" "55755491" "55755491" "subst" "0.25214" "02416" "PCDH15_000038" "g.55755491C>T" "" "{PMID:Roux 2006:16679490}; USMA-{USMAPCDH15R929Q:} USMA-{MSV3dQ96QU1p.Arg929Gln:}" "none" "" "homozygous" "Germline" "" "rs2135720" "0" "" "" "g.53995731C>T" "" "benign" "" "0000374600" "10" "11" "10" "55755491" "55755491" "subst" "0.25214" "02416" "PCDH15_000038" "g.55755491C>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMAPCDH15R929Q:} USMA-{MSV3dQ96QU1p.Arg929Gln:}" "none" "" "homozygous" "Germline" "" "rs2135720" "0" "" "" "g.53995731C>T" "" "benign" "" "0000374601" "20" "11" "10" "55755491" "55755491" "subst" "0.25214" "02416" "PCDH15_000038" "g.55755491C>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMAPCDH15R929Q:} USMA-{MSV3dQ96QU1p.Arg929Gln:}" "none" "" "homozygous" "Germline" "" "rs2135720" "0" "" "" "g.53995731C>T" "" "benign" "" "0000374602" "0" "11" "10" "55755491" "55755491" "subst" "0.25214" "02416" "PCDH15_000038" "g.55755491C>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMAPCDH15R929Q:} USMA-{MSV3dQ96QU1p.Arg929Gln:}" "none" "" "heterozygous" "Germline" "" "rs2135720" "0" "" "" "g.53995731C>T" "" "benign" "" "0000374603" "10" "11" "10" "55755491" "55755491" "subst" "0.25214" "02419" "PCDH15_000038" "g.55755491C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAPCDH15R929Q:} USMA-{MSV3dQ96QU1p.Arg929Gln:}" "none" "" "homozygous; Neutral" "Germline" "" "rs2135720" "0" "" "" "g.53995731C>T" "" "benign" "" "0000374604" "20" "11" "10" "55755491" "55755491" "subst" "0.25214" "02419" "PCDH15_000038" "g.55755491C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAPCDH15R929Q:} USMA-{MSV3dQ96QU1p.Arg929Gln:}" "none" "" "homozygous; Neutral" "Germline" "" "rs2135720" "0" "" "" "g.53995731C>T" "" "benign" "" "0000374605" "10" "11" "10" "55755491" "55755491" "subst" "0.25214" "02416" "PCDH15_000038" "g.55755491C>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMAPCDH15R929Q:} USMA-{MSV3dQ96QU1p.Arg929Gln:}" "none" "" "homozygous; non causative" "Germline" "" "rs2135720" "0" "" "" "g.53995731C>T" "" "benign" "" "0000374606" "20" "11" "10" "55755491" "55755491" "subst" "0.25214" "02416" "PCDH15_000038" "g.55755491C>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMAPCDH15R929Q:} USMA-{MSV3dQ96QU1p.Arg929Gln:}" "none" "" "homozygous; non causative" "Germline" "" "rs2135720" "0" "" "" "g.53995731C>T" "" "benign" "" "0000374607" "10" "11" "10" "55755491" "55755491" "subst" "0.25214" "02416" "PCDH15_000038" "g.55755491C>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMAPCDH15R929Q:} USMA-{MSV3dQ96QU1p.Arg929Gln:}" "none" "" "homozygous; non causative" "Germline" "" "rs2135720" "0" "" "" "g.53995731C>T" "" "benign" "" "0000374608" "20" "11" "10" "55755491" "55755491" "subst" "0.25214" "02416" "PCDH15_000038" "g.55755491C>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMAPCDH15R929Q:} USMA-{MSV3dQ96QU1p.Arg929Gln:}" "none" "" "homozygous; non causative" "Germline" "" "rs2135720" "0" "" "" "g.53995731C>T" "" "benign" "" "0000374609" "0" "11" "10" "55755491" "55755491" "subst" "0.25214" "02416" "PCDH15_000038" "g.55755491C>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMAPCDH15R929Q:} USMA-{MSV3dQ96QU1p.Arg929Gln:}" "none" "" "heterozygous; het/hom status not reported in table; non causative" "Germline" "" "rs2135720" "0" "" "" "g.53995731C>T" "" "benign" "" "0000374610" "10" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "8/581 controls" "{PMID:Ben-Yosef 2003:12711741}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374611" "10" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "8/581 controls" "{PMID:Ben-Yosef 2003:12711741}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374612" "10" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "8/581 controls" "{PMID:Ben-Yosef 2003:12711741}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374613" "10" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "8/581 controls" "{PMID:Ben-Yosef 2003:12711741}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374614" "10" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "8/581 controls" "{PMID:Ben-Yosef 2003:12711741}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374615" "10" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "8/581 controls" "{PMID:Ben-Yosef 2003:12711741}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374616" "10" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "8/581 controls" "{PMID:Ben-Yosef 2003:12711741}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374617" "10" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "8/581 controls" "{PMID:Ben-Yosef 2003:12711741}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374618" "10" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "8/581 controls" "{PMID:Ben-Yosef 2003:12711741}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374619" "10" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "8/581 controls" "{PMID:Ben-Yosef 2003:12711741}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374620" "2" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "8/581 controls" "{PMID:Ben-Yosef 2003:12711741}" "" "" "heterozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374621" "20" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "8/581 controls" "{PMID:Ben-Yosef 2003:12711741}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374622" "20" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "8/581 controls" "{PMID:Ben-Yosef 2003:12711741}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374623" "20" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "8/581 controls" "{PMID:Ben-Yosef 2003:12711741}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374624" "20" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "8/581 controls" "{PMID:Ben-Yosef 2003:12711741}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374625" "20" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "8/581 controls" "{PMID:Ben-Yosef 2003:12711741}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374626" "20" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "8/581 controls" "{PMID:Ben-Yosef 2003:12711741}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374627" "20" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "8/581 controls" "{PMID:Ben-Yosef 2003:12711741}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374628" "20" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "8/581 controls" "{PMID:Ben-Yosef 2003:12711741}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374629" "20" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "8/581 controls" "{PMID:Ben-Yosef 2003:12711741}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374630" "20" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "8/581 controls" "{PMID:Ben-Yosef 2003:12711741}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374631" "10" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "5/1010 controls" "{PMID:Brownstein 2004:15028842}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374632" "10" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "5/1010 controls" "{PMID:Brownstein 2004:15028842}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374633" "10" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "5/1010 controls" "{PMID:Brownstein 2004:15028842}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374634" "10" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "5/1010 controls" "{PMID:Brownstein 2004:15028842}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374635" "20" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "5/1010 controls" "{PMID:Brownstein 2004:15028842}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374636" "20" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "5/1010 controls" "{PMID:Brownstein 2004:15028842}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374637" "20" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "5/1010 controls" "{PMID:Brownstein 2004:15028842}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374638" "20" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "5/1010 controls" "{PMID:Brownstein 2004:15028842}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374639" "10" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "" "{PMID:Jacobson 2008:18463160}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374640" "20" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "" "{PMID:Jacobson 2008:18463160}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374641" "2" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "" "{PMID:Aller 2010:20538994}, {PMID:Jaijo 2012:22815625}" "" "" "heterozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic (recessive)" "" "0000374642" "10" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "" "{PMID:Bujakowska 2014:25468891}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374643" "20" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02416" "PCDH15_000039" "g.56077174G>A" "" "{PMID:Bujakowska 2014:25468891}" "" "" "homozygous" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374644" "10" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02428" "PCDH15_000039" "g.56077174G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374645" "20" "99" "10" "56077174" "56077174" "subst" "0.000207462" "02428" "PCDH15_000039" "g.56077174G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "rs111033260" "0" "" "" "g.54317414G>A" "" "pathogenic" "" "0000374646" "0" "35" "10" "55943311" "55943311" "subst" "0.000109693" "02418" "PCDH15_000040" "g.55943311C>T" "" "Oshima et al.; USMA-{USMAPCDH15:V495I} USMA-{MSV3dQ96QU1:p.Val495Ile}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.54183551C>T" "" "likely benign" "ACMG" "0000374647" "0" "11" "10" "55582636" "55582636" "subst" "0.00542653" "02419" "PCDH15_000041" "g.55582636T>C" "10/844 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAPCDH15N1617S:} USMA-{MSV3dQ96QU1p.Asn1617Ser:}" "none" "" "heterozygous; Neutral" "Germline" "" "rs111033362" "0" "" "" "g.53822876T>C" "" "benign" "" "0000374648" "0" "11" "10" "55582636" "55582636" "subst" "0.00542653" "02419" "PCDH15_000041" "g.55582636T>C" "10/844 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAPCDH15N1617S:} USMA-{MSV3dQ96QU1p.Asn1617Ser:}" "none" "" "heterozygous; Neutral" "Germline" "" "rs111033362" "0" "" "" "g.53822876T>C" "" "benign" "" "0000374649" "0" "11" "10" "55582636" "55582636" "subst" "0.00542653" "02419" "PCDH15_000041" "g.55582636T>C" "10/844 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAPCDH15N1617S:} USMA-{MSV3dQ96QU1p.Asn1617Ser:}" "none" "" "heterozygous; Neutral" "Germline" "" "rs111033362" "0" "" "" "g.53822876T>C" "" "benign" "" "0000374650" "0" "11" "10" "55582636" "55582636" "subst" "0.00542653" "02419" "PCDH15_000041" "g.55582636T>C" "10/844 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAPCDH15N1617S:} USMA-{MSV3dQ96QU1p.Asn1617Ser:}" "none" "" "heterozygous; Neutral" "Germline" "" "rs111033362" "0" "" "" "g.53822876T>C" "" "benign" "" "0000374651" "0" "11" "10" "55582636" "55582636" "subst" "0.00542653" "02418" "PCDH15_000041" "g.55582636T>C" "" "Oshima et al.; USMA-{USMAPCDH15:N1617S} USMA-{MSV3dQ96QU1:p.Asn1617Ser}" "none" "" "heterozygous" "Germline" "" "rs111033362" "0" "" "" "g.53822876T>C" "" "benign" "" "0000374652" "1" "35" "10" "56106198" "56106198" "subst" "0.000170683" "02416" "PCDH15_000042" "g.56106198T>C" "0/100 controls" "{PMID:Jaijo 2012:22815625}; USMA-{USMAPCDH15N174S:} USMA-{MSV3dQ96QU1p.Asn174Ser:}" "" "" "heterozygous; probably non pathogenic" "Germline" "" "" "0" "" "" "g.54346438T>C" "" "likely benign" "ACMG" "0000374653" "0" "35" "10" "55600246" "55600246" "subst" "0.000613412" "02416" "PCDH15_000043" "g.55600246G>T" "0/306 controls" "{PMID:Bonnet 2011:21569298}; USMA-{USMAPCDH15R1273S:} USMA-{MSV3dQ96QU1p.Arg1273Ser:}" "+AluI;+CviKI_1;+AlwI;+Sau3AI;+MboI;+DpnI;" "" "heterozygous; Presumably pathogenic" "Germline" "" "rs111033363" "0" "" "" "g.53840486G>T" "" "likely benign" "ACMG" "0000374654" "0" "35" "10" "55600246" "55600246" "subst" "0.000613412" "02418" "PCDH15_000043" "g.55600246G>T" "0/100 controls" "{PMID:Jaijo 2012:22815625}; USMA-{USMAPCDH15R1273S:} USMA-{MSV3dQ96QU1p.Arg1273Ser:}" "+BfaI;-PflMI;-BslI;" "" "heterozygous; presumed non-pathogenic variant" "Germline" "" "rs111033363" "0" "" "" "g.53840486G>T" "" "likely benign" "ACMG" "0000374655" "0" "35" "10" "55600246" "55600246" "subst" "0.000613412" "02416" "PCDH15_000043" "g.55600246G>T" "" "{PMID:Bujakowska 2014:25468891}; USMA-{USMAPCDH15R1273S:} USMA-{MSV3dQ96QU1p.Arg1273Ser:}" "+BfaI;-PflMI;-BslI;" "" "heterozygous" "Germline" "" "rs111033363" "0" "" "" "g.53840486G>T" "" "likely benign" "ACMG" "0000374656" "0" "75" "10" "55719538" "55719538" "subst" "0" "02418" "PCDH15_000044" "g.55719538C>G" "" "Oshima et al.; USMA-{USMAPCDH15:V1026L} USMA-{MSV3dQ96QU1:p.Val1026Leu}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.53959778C>G" "" "VUS" "ACMG" "0000374657" "1" "75" "10" "56128953" "56128953" "subst" "8.14458E-6" "02416" "PCDH15_000045" "g.56128953C>T" "" "{PMID:Aller 2010:20538994}, {PMID:Jaijo 2012:22815625}; USMA-{USMAPCDH15R134Q:} USMA-{MSV3dQ96QU1p.Arg134Gln:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.54369193C>T" "" "VUS" "ACMG" "0000374658" "3" "99" "10" "55755495" "55755495" "subst" "0" "02418" "PCDH15_000046" "g.55755495T>A" "" "{PMID:Jaijo 2012:22815625}" "" "" "homozygous; Probable pathogenic" "Germline" "" "" "0" "" "" "g.53995735T>A" "" "pathogenic (recessive)" "" "0000374660" "0" "75" "10" "55587229" "55587229" "subst" "0" "02418" "PCDH15_000047" "g.55587229G>A" "" "Oshima et al.; USMA-{USMAPCDH15:P1431S} USMA-{MSV3dQ96QU1:p.Pro1431Ser}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.53827469G>A" "" "VUS" "ACMG" "0000374661" "0" "75" "10" "55587219" "55587219" "subst" "1.64821E-5" "02418" "PCDH15_000048" "g.55587219G>A" "" "Oshima et al.; USMA-{USMAPCDH15:A1434V} USMA-{MSV3dQ96QU1:p.Ala1434Val}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.53827459G>A" "" "VUS" "ACMG" "0000374662" "0" "75" "10" "55587219" "55587219" "subst" "1.64821E-5" "02418" "PCDH15_000048" "g.55587219G>A" "" "Oshima et al.; USMA-{USMAPCDH15:A1434V} USMA-{MSV3dQ96QU1:p.Ala1434Val}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.53827459G>A" "" "VUS" "ACMG" "0000374664" "10" "75" "10" "55587192" "55587192" "subst" "8.2335E-6" "02418" "PCDH15_000050" "g.55587192G>A" "" "Oshima et al.; USMA-{USMAPCDH15:P1443L} USMA-{MSV3dQ96QU1:p.Pro1443Leu}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827432G>A" "" "VUS" "ACMG" "0000374665" "20" "75" "10" "55587192" "55587192" "subst" "8.2335E-6" "02418" "PCDH15_000050" "g.55587192G>A" "" "Oshima et al.; USMA-{USMAPCDH15:P1443L} USMA-{MSV3dQ96QU1:p.Pro1443Leu}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827432G>A" "" "VUS" "ACMG" "0000374666" "2" "99" "10" "55912907" "55912907" "subst" "4.0699E-6" "02418" "PCDH15_000051" "g.55912907G>C" "" "{PMID:Jaijo 2012:22815625}" "" "" "heterozygous; Probable pathogenic" "Germline" "" "" "0" "" "" "g.54153147G>C" "" "pathogenic" "" "0000374667" "1" "73" "10" "55755404" "55755404" "subst" "4.07206E-6" "02418" "PCDH15_000052" "g.55755404C>T" "" "{PMID:Jaijo 2012:22815625}" "" "" "heterozygous; shown in Aparisi , 2013 NOT to affect splicing; Probable pathogenic - Neutral in Aparisi , 2013" "Germline" "" "" "0" "" "" "g.53995644C>T" "" "likely benign" "ACMG" "0000374668" "10" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "0/240 controls" "{PMID:Ahmed 2001:11398101}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374669" "10" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "0/240 controls" "{PMID:Ahmed 2001:11398101}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374670" "10" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "0/240 controls" "{PMID:Ahmed 2001:11398101}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374671" "20" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "0/240 controls" "{PMID:Ahmed 2001:11398101}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374672" "20" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "0/240 controls" "{PMID:Ahmed 2001:11398101}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374673" "20" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "0/240 controls" "{PMID:Ahmed 2001:11398101}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374674" "10" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "0/100 controls" "{PMID:Alagramam 2001:11487575}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374675" "10" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "0/100 controls" "{PMID:Alagramam 2001:11487575}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374676" "10" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "0/100 controls" "{PMID:Alagramam 2001:11487575}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374677" "10" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "0/100 controls" "{PMID:Alagramam 2001:11487575}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374678" "10" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "0/100 controls" "{PMID:Alagramam 2001:11487575}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374679" "20" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "0/100 controls" "{PMID:Alagramam 2001:11487575}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374680" "20" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "0/100 controls" "{PMID:Alagramam 2001:11487575}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374681" "20" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "0/100 controls" "{PMID:Alagramam 2001:11487575}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374682" "20" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "0/100 controls" "{PMID:Alagramam 2001:11487575}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374683" "20" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "0/100 controls" "{PMID:Alagramam 2001:11487575}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374684" "10" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374685" "10" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374686" "10" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374687" "20" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374688" "20" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374689" "20" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374690" "10" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "" "{PMID:Jaijo 2010:19683999}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374691" "1" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "" "{PMID:Jaijo 2010:19683999}" "-TaqI" "" "heterozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374692" "10" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "" "{PMID:Jaijo 2010:19683999}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374693" "20" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "" "{PMID:Jaijo 2010:19683999}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374694" "20" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "" "{PMID:Jaijo 2010:19683999}" "-TaqI" "" "homozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374695" "0" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02416" "PCDH15_000053" "g.56424016G>A" "" "{PMID:Roux 2011:21436283}" "-TaqI" "" "heterozygous" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374696" "10" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02428" "PCDH15_000053" "g.56424016G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374697" "20" "99" "10" "56424016" "56424016" "subst" "2.0555E-5" "02428" "PCDH15_000053" "g.56424016G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "rs137853001" "0" "" "" "g.54664256G>A" "" "pathogenic" "" "0000374700" "1" "99" "10" "55587197" "55587202" "del" "0" "02416" "PCDH15_000054" "g.55587197_55587202del" "0/330 controls" "{PMID:Hutchin 2005:16283880}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.53827437_53827442del" "" "pathogenic" "" "0000374701" "1" "11" "10" "55581929" "55581929" "subst" "0.00067841" "02416" "PCDH15_000055" "g.55581929T>G" "4/561 controls" "{PMID:Ben-Yosef 2003:12711741}; USMA-{USMAPCDH15M1853L:} USMA-{MSV3dQ96QU1p.Met1853Leu:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.53822169T>G" "" "benign" "" "0000374702" "10" "99" "10" "55617025" "55617025" "subst" "4.06835E-6" "02416" "PCDH15_000056" "g.55617025T>C" "0/240 controls" "{PMID:Ahmed 2001:11398101}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53857265T>C" "" "pathogenic" "" "0000374703" "10" "99" "10" "55617025" "55617025" "subst" "4.06835E-6" "02416" "PCDH15_000056" "g.55617025T>C" "0/240 controls" "{PMID:Ahmed 2001:11398101}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53857265T>C" "" "pathogenic" "" "0000374704" "10" "99" "10" "55617025" "55617025" "subst" "4.06835E-6" "02416" "PCDH15_000056" "g.55617025T>C" "0/240 controls" "{PMID:Ahmed 2001:11398101}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53857265T>C" "" "pathogenic" "" "0000374705" "10" "99" "10" "55617025" "55617025" "subst" "4.06835E-6" "02416" "PCDH15_000056" "g.55617025T>C" "0/240 controls" "{PMID:Ahmed 2001:11398101}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53857265T>C" "" "pathogenic" "" "0000374706" "10" "99" "10" "55617025" "55617025" "subst" "4.06835E-6" "02416" "PCDH15_000056" "g.55617025T>C" "0/240 controls" "{PMID:Ahmed 2001:11398101}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53857265T>C" "" "pathogenic" "" "0000374707" "20" "99" "10" "55617025" "55617025" "subst" "4.06835E-6" "02416" "PCDH15_000056" "g.55617025T>C" "0/240 controls" "{PMID:Ahmed 2001:11398101}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53857265T>C" "" "pathogenic" "" "0000374708" "20" "99" "10" "55617025" "55617025" "subst" "4.06835E-6" "02416" "PCDH15_000056" "g.55617025T>C" "0/240 controls" "{PMID:Ahmed 2001:11398101}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53857265T>C" "" "pathogenic" "" "0000374709" "20" "99" "10" "55617025" "55617025" "subst" "4.06835E-6" "02416" "PCDH15_000056" "g.55617025T>C" "0/240 controls" "{PMID:Ahmed 2001:11398101}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53857265T>C" "" "pathogenic" "" "0000374710" "20" "99" "10" "55617025" "55617025" "subst" "4.06835E-6" "02416" "PCDH15_000056" "g.55617025T>C" "0/240 controls" "{PMID:Ahmed 2001:11398101}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53857265T>C" "" "pathogenic" "" "0000374711" "20" "99" "10" "55617025" "55617025" "subst" "4.06835E-6" "02416" "PCDH15_000056" "g.55617025T>C" "0/240 controls" "{PMID:Ahmed 2001:11398101}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53857265T>C" "" "pathogenic" "" "0000374712" "10" "99" "10" "56077122" "56077122" "subst" "0" "02416" "PCDH15_000057" "g.56077122C>T" "0/300 controls" "{PMID:Ahmed 2003:14570705}; USMA-{USMAPCDH15G262D:} USMA-{MSV3dQ96QU1p.Gly262Asp:}" "" "" "homozygous" "Germline" "" "rs137853002" "0" "" "" "g.54317362C>T" "" "VUS" "ACMG" "0000374713" "10" "99" "10" "56077122" "56077122" "subst" "0" "02416" "PCDH15_000057" "g.56077122C>T" "0/300 controls" "{PMID:Ahmed 2003:14570705}; USMA-{USMAPCDH15G262D:} USMA-{MSV3dQ96QU1p.Gly262Asp:}" "" "" "homozygous" "Germline" "" "rs137853002" "0" "" "" "g.54317362C>T" "" "VUS" "ACMG" "0000374714" "10" "99" "10" "56077122" "56077122" "subst" "0" "02416" "PCDH15_000057" "g.56077122C>T" "0/300 controls" "{PMID:Ahmed 2003:14570705}; USMA-{USMAPCDH15G262D:} USMA-{MSV3dQ96QU1p.Gly262Asp:}" "" "" "homozygous" "Germline" "" "rs137853002" "0" "" "" "g.54317362C>T" "" "VUS" "ACMG" "0000374715" "10" "99" "10" "56077122" "56077122" "subst" "0" "02416" "PCDH15_000057" "g.56077122C>T" "0/300 controls" "{PMID:Ahmed 2003:14570705}; USMA-{USMAPCDH15G262D:} USMA-{MSV3dQ96QU1p.Gly262Asp:}" "" "" "homozygous" "Germline" "" "rs137853002" "0" "" "" "g.54317362C>T" "" "VUS" "ACMG" "0000374716" "10" "99" "10" "56077122" "56077122" "subst" "0" "02416" "PCDH15_000057" "g.56077122C>T" "0/300 controls" "{PMID:Ahmed 2003:14570705}; USMA-{USMAPCDH15G262D:} USMA-{MSV3dQ96QU1p.Gly262Asp:}" "" "" "homozygous" "Germline" "" "rs137853002" "0" "" "" "g.54317362C>T" "" "VUS" "ACMG" "0000374717" "20" "99" "10" "56077122" "56077122" "subst" "0" "02416" "PCDH15_000057" "g.56077122C>T" "0/300 controls" "{PMID:Ahmed 2003:14570705}; USMA-{USMAPCDH15G262D:} USMA-{MSV3dQ96QU1p.Gly262Asp:}" "" "" "homozygous" "Germline" "" "rs137853002" "0" "" "" "g.54317362C>T" "" "VUS" "ACMG" "0000374718" "20" "99" "10" "56077122" "56077122" "subst" "0" "02416" "PCDH15_000057" "g.56077122C>T" "0/300 controls" "{PMID:Ahmed 2003:14570705}; USMA-{USMAPCDH15G262D:} USMA-{MSV3dQ96QU1p.Gly262Asp:}" "" "" "homozygous" "Germline" "" "rs137853002" "0" "" "" "g.54317362C>T" "" "VUS" "ACMG" "0000374719" "20" "99" "10" "56077122" "56077122" "subst" "0" "02416" "PCDH15_000057" "g.56077122C>T" "0/300 controls" "{PMID:Ahmed 2003:14570705}; USMA-{USMAPCDH15G262D:} USMA-{MSV3dQ96QU1p.Gly262Asp:}" "" "" "homozygous" "Germline" "" "rs137853002" "0" "" "" "g.54317362C>T" "" "VUS" "ACMG" "0000374720" "20" "99" "10" "56077122" "56077122" "subst" "0" "02416" "PCDH15_000057" "g.56077122C>T" "0/300 controls" "{PMID:Ahmed 2003:14570705}; USMA-{USMAPCDH15G262D:} USMA-{MSV3dQ96QU1p.Gly262Asp:}" "" "" "homozygous" "Germline" "" "rs137853002" "0" "" "" "g.54317362C>T" "" "VUS" "ACMG" "0000374721" "20" "99" "10" "56077122" "56077122" "subst" "0" "02416" "PCDH15_000057" "g.56077122C>T" "0/300 controls" "{PMID:Ahmed 2003:14570705}; USMA-{USMAPCDH15G262D:} USMA-{MSV3dQ96QU1p.Gly262Asp:}" "" "" "homozygous" "Germline" "" "rs137853002" "0" "" "" "g.54317362C>T" "" "VUS" "ACMG" "0000374722" "10" "99" "10" "56128954" "56128954" "subst" "0" "02416" "PCDH15_000058" "g.56128954G>C" "0/300 controls" "{PMID:Ahmed 2003:14570705}; USMA-{USMAPCDH15R134G:} USMA-{MSV3dQ96QU1p.Arg134Gly:}" "" "" "homozygous" "Germline" "" "rs137853003" "0" "" "" "g.54369194G>C" "" "VUS" "ACMG" "0000374723" "10" "99" "10" "56128954" "56128954" "subst" "0" "02416" "PCDH15_000058" "g.56128954G>C" "0/300 controls" "{PMID:Ahmed 2003:14570705}; USMA-{USMAPCDH15R134G:} USMA-{MSV3dQ96QU1p.Arg134Gly:}" "" "" "homozygous" "Germline" "" "rs137853003" "0" "" "" "g.54369194G>C" "" "VUS" "ACMG" "0000374724" "10" "99" "10" "56128954" "56128954" "subst" "0" "02416" "PCDH15_000058" "g.56128954G>C" "0/300 controls" "{PMID:Ahmed 2003:14570705}; USMA-{USMAPCDH15R134G:} USMA-{MSV3dQ96QU1p.Arg134Gly:}" "" "" "homozygous" "Germline" "" "rs137853003" "0" "" "" "g.54369194G>C" "" "VUS" "ACMG" "0000374725" "20" "99" "10" "56128954" "56128954" "subst" "0" "02416" "PCDH15_000058" "g.56128954G>C" "0/300 controls" "{PMID:Ahmed 2003:14570705}; USMA-{USMAPCDH15R134G:} USMA-{MSV3dQ96QU1p.Arg134Gly:}" "" "" "homozygous" "Germline" "" "rs137853003" "0" "" "" "g.54369194G>C" "" "VUS" "ACMG" "0000374726" "20" "99" "10" "56128954" "56128954" "subst" "0" "02416" "PCDH15_000058" "g.56128954G>C" "0/300 controls" "{PMID:Ahmed 2003:14570705}; USMA-{USMAPCDH15R134G:} USMA-{MSV3dQ96QU1p.Arg134Gly:}" "" "" "homozygous" "Germline" "" "rs137853003" "0" "" "" "g.54369194G>C" "" "VUS" "ACMG" "0000374727" "20" "99" "10" "56128954" "56128954" "subst" "0" "02416" "PCDH15_000058" "g.56128954G>C" "0/300 controls" "{PMID:Ahmed 2003:14570705}; USMA-{USMAPCDH15R134G:} USMA-{MSV3dQ96QU1p.Arg134Gly:}" "" "" "homozygous" "Germline" "" "rs137853003" "0" "" "" "g.54369194G>C" "" "VUS" "ACMG" "0000374728" "10" "95" "10" "56128954" "56128954" "subst" "0" "02416" "PCDH15_000058" "g.56128954G>C" "0/200 controls" "{PMID:Ahmed 2008:18719945}; USMA-{USMAPCDH15R134G:} USMA-{MSV3dQ96QU1p.Arg134Gly:}" "" "" "homozygous" "Germline" "" "rs137853003" "0" "" "" "g.54369194G>C" "" "VUS" "ACMG" "0000374729" "10" "95" "10" "56128954" "56128954" "subst" "0" "02416" "PCDH15_000058" "g.56128954G>C" "0/200 controls" "{PMID:Ahmed 2008:18719945}; USMA-{USMAPCDH15R134G:} USMA-{MSV3dQ96QU1p.Arg134Gly:}" "" "" "homozygous" "Germline" "" "rs137853003" "0" "" "" "g.54369194G>C" "" "VUS" "ACMG" "0000374730" "10" "99" "10" "56128954" "56128954" "subst" "0" "02416" "PCDH15_000058" "g.56128954G>C" "0/200 controls" "{PMID:Ahmed 2008:18719945}; USMA-{USMAPCDH15R134G:} USMA-{MSV3dQ96QU1p.Arg134Gly:}" "" "" "homozygous" "Germline" "" "rs137853003" "0" "" "" "g.54369194G>C" "" "VUS" "ACMG" "0000374731" "20" "95" "10" "56128954" "56128954" "subst" "0" "02416" "PCDH15_000058" "g.56128954G>C" "0/200 controls" "{PMID:Ahmed 2008:18719945}; USMA-{USMAPCDH15R134G:} USMA-{MSV3dQ96QU1p.Arg134Gly:}" "" "" "homozygous" "Germline" "" "rs137853003" "0" "" "" "g.54369194G>C" "" "VUS" "ACMG" "0000374732" "20" "95" "10" "56128954" "56128954" "subst" "0" "02416" "PCDH15_000058" "g.56128954G>C" "0/200 controls" "{PMID:Ahmed 2008:18719945}; USMA-{USMAPCDH15R134G:} USMA-{MSV3dQ96QU1p.Arg134Gly:}" "" "" "homozygous" "Germline" "" "rs137853003" "0" "" "" "g.54369194G>C" "" "VUS" "ACMG" "0000374733" "20" "99" "10" "56128954" "56128954" "subst" "0" "02416" "PCDH15_000058" "g.56128954G>C" "0/200 controls" "{PMID:Ahmed 2008:18719945}; USMA-{USMAPCDH15R134G:} USMA-{MSV3dQ96QU1p.Arg134Gly:}" "" "" "homozygous" "Germline" "" "rs137853003" "0" "" "" "g.54369194G>C" "" "VUS" "ACMG" "0000374734" "0" "75" "10" "56128954" "56128954" "subst" "0" "00143" "PCDH15_000058" "g.56128954G>C" "" "{PMID:Krawitz 2014:25333064}; USMA-{USMAPCDH15R134G:} USMA-{MSV3dQ96QU1p.Arg134Gly:}" "" "" "homozygous; mutation" "Germline" "" "rs137853003" "0" "" "" "g.54369194G>C" "" "VUS" "ACMG" "0000374735" "10" "99" "10" "55626401" "55626401" "subst" "4.07027E-6" "02416" "PCDH15_000059" "g.55626401C>A" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53866641C>A" "" "pathogenic" "" "0000374736" "10" "99" "10" "55626401" "55626401" "subst" "4.07027E-6" "02416" "PCDH15_000059" "g.55626401C>A" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53866641C>A" "" "pathogenic" "" "0000374737" "10" "99" "10" "55626401" "55626401" "subst" "4.07027E-6" "02416" "PCDH15_000059" "g.55626401C>A" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53866641C>A" "" "pathogenic" "" "0000374738" "10" "99" "10" "55626401" "55626401" "subst" "4.07027E-6" "02416" "PCDH15_000059" "g.55626401C>A" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53866641C>A" "" "pathogenic" "" "0000374739" "10" "99" "10" "55626401" "55626401" "subst" "4.07027E-6" "02416" "PCDH15_000059" "g.55626401C>A" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53866641C>A" "" "pathogenic" "" "0000374740" "10" "99" "10" "55626401" "55626401" "subst" "4.07027E-6" "02416" "PCDH15_000059" "g.55626401C>A" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53866641C>A" "" "pathogenic" "" "0000374741" "20" "99" "10" "55626401" "55626401" "subst" "4.07027E-6" "02416" "PCDH15_000059" "g.55626401C>A" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53866641C>A" "" "pathogenic" "" "0000374742" "20" "99" "10" "55626401" "55626401" "subst" "4.07027E-6" "02416" "PCDH15_000059" "g.55626401C>A" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53866641C>A" "" "pathogenic" "" "0000374743" "20" "99" "10" "55626401" "55626401" "subst" "4.07027E-6" "02416" "PCDH15_000059" "g.55626401C>A" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53866641C>A" "" "pathogenic" "" "0000374744" "20" "99" "10" "55626401" "55626401" "subst" "4.07027E-6" "02416" "PCDH15_000059" "g.55626401C>A" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53866641C>A" "" "pathogenic" "" "0000374745" "20" "99" "10" "55626401" "55626401" "subst" "4.07027E-6" "02416" "PCDH15_000059" "g.55626401C>A" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53866641C>A" "" "pathogenic" "" "0000374746" "20" "99" "10" "55626401" "55626401" "subst" "4.07027E-6" "02416" "PCDH15_000059" "g.55626401C>A" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53866641C>A" "" "pathogenic" "" "0000374747" "10" "99" "10" "55587263" "55587263" "del" "0" "02416" "PCDH15_000060" "g.55587263del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827503del" "" "pathogenic" "" "0000374748" "10" "99" "10" "55587263" "55587263" "del" "0" "02416" "PCDH15_000060" "g.55587263del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827503del" "" "pathogenic" "" "0000374749" "10" "99" "10" "55587263" "55587263" "del" "0" "02416" "PCDH15_000060" "g.55587263del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827503del" "" "pathogenic" "" "0000374750" "10" "99" "10" "55587263" "55587263" "del" "0" "02416" "PCDH15_000060" "g.55587263del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827503del" "" "pathogenic" "" "0000374751" "10" "99" "10" "55587263" "55587263" "del" "0" "02416" "PCDH15_000060" "g.55587263del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827503del" "" "pathogenic" "" "0000374752" "10" "99" "10" "55587263" "55587263" "del" "0" "02416" "PCDH15_000060" "g.55587263del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827503del" "" "pathogenic" "" "0000374753" "10" "99" "10" "55587263" "55587263" "del" "0" "02416" "PCDH15_000060" "g.55587263del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827503del" "" "pathogenic" "" "0000374754" "10" "99" "10" "55587263" "55587263" "del" "0" "02416" "PCDH15_000060" "g.55587263del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827503del" "" "pathogenic" "" "0000374755" "10" "99" "10" "55587263" "55587263" "del" "0" "02416" "PCDH15_000060" "g.55587263del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827503del" "" "pathogenic" "" "0000374756" "10" "99" "10" "55587263" "55587263" "del" "0" "02416" "PCDH15_000060" "g.55587263del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827503del" "" "pathogenic" "" "0000374757" "10" "99" "10" "55587263" "55587263" "del" "0" "02416" "PCDH15_000060" "g.55587263del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827503del" "" "pathogenic" "" "0000374758" "20" "99" "10" "55587263" "55587263" "del" "0" "02416" "PCDH15_000060" "g.55587263del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827503del" "" "pathogenic" "" "0000374759" "20" "99" "10" "55587263" "55587263" "del" "0" "02416" "PCDH15_000060" "g.55587263del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827503del" "" "pathogenic" "" "0000374760" "20" "99" "10" "55587263" "55587263" "del" "0" "02416" "PCDH15_000060" "g.55587263del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827503del" "" "pathogenic" "" "0000374761" "20" "99" "10" "55587263" "55587263" "del" "0" "02416" "PCDH15_000060" "g.55587263del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827503del" "" "pathogenic" "" "0000374762" "20" "99" "10" "55587263" "55587263" "del" "0" "02416" "PCDH15_000060" "g.55587263del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827503del" "" "pathogenic" "" "0000374763" "20" "99" "10" "55587263" "55587263" "del" "0" "02416" "PCDH15_000060" "g.55587263del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827503del" "" "pathogenic" "" "0000374764" "20" "99" "10" "55587263" "55587263" "del" "0" "02416" "PCDH15_000060" "g.55587263del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827503del" "" "pathogenic" "" "0000374765" "20" "99" "10" "55587263" "55587263" "del" "0" "02416" "PCDH15_000060" "g.55587263del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827503del" "" "pathogenic" "" "0000374766" "20" "99" "10" "55587263" "55587263" "del" "0" "02416" "PCDH15_000060" "g.55587263del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827503del" "" "pathogenic" "" "0000374767" "20" "99" "10" "55587263" "55587263" "del" "0" "02416" "PCDH15_000060" "g.55587263del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827503del" "" "pathogenic" "" "0000374768" "20" "99" "10" "55587263" "55587263" "del" "0" "02416" "PCDH15_000060" "g.55587263del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53827503del" "" "pathogenic" "" "0000374769" "10" "99" "10" "55839130" "55839130" "subst" "0" "02416" "PCDH15_000061" "g.55839130G>T" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54079370G>T" "" "pathogenic" "" "0000374770" "10" "99" "10" "55839130" "55839130" "subst" "0" "02416" "PCDH15_000061" "g.55839130G>T" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54079370G>T" "" "pathogenic" "" "0000374771" "10" "99" "10" "55839130" "55839130" "subst" "0" "02416" "PCDH15_000061" "g.55839130G>T" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54079370G>T" "" "pathogenic" "" "0000374772" "10" "99" "10" "55839130" "55839130" "subst" "0" "02416" "PCDH15_000061" "g.55839130G>T" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54079370G>T" "" "pathogenic" "" "0000374773" "10" "99" "10" "55839130" "55839130" "subst" "0" "02416" "PCDH15_000061" "g.55839130G>T" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54079370G>T" "" "pathogenic" "" "0000374774" "10" "99" "10" "55839130" "55839130" "subst" "0" "02416" "PCDH15_000061" "g.55839130G>T" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54079370G>T" "" "pathogenic" "" "0000374775" "10" "99" "10" "55839130" "55839130" "subst" "0" "02416" "PCDH15_000061" "g.55839130G>T" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54079370G>T" "" "pathogenic" "" "0000374776" "20" "99" "10" "55839130" "55839130" "subst" "0" "02416" "PCDH15_000061" "g.55839130G>T" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54079370G>T" "" "pathogenic" "" "0000374777" "20" "99" "10" "55839130" "55839130" "subst" "0" "02416" "PCDH15_000061" "g.55839130G>T" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54079370G>T" "" "pathogenic" "" "0000374778" "20" "99" "10" "55839130" "55839130" "subst" "0" "02416" "PCDH15_000061" "g.55839130G>T" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54079370G>T" "" "pathogenic" "" "0000374779" "20" "99" "10" "55839130" "55839130" "subst" "0" "02416" "PCDH15_000061" "g.55839130G>T" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54079370G>T" "" "pathogenic" "" "0000374780" "20" "99" "10" "55839130" "55839130" "subst" "0" "02416" "PCDH15_000061" "g.55839130G>T" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54079370G>T" "" "pathogenic" "" "0000374781" "20" "99" "10" "55839130" "55839130" "subst" "0" "02416" "PCDH15_000061" "g.55839130G>T" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54079370G>T" "" "pathogenic" "" "0000374782" "20" "99" "10" "55839130" "55839130" "subst" "0" "02416" "PCDH15_000061" "g.55839130G>T" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54079370G>T" "" "pathogenic" "" "0000374783" "10" "99" "10" "55849801" "55849801" "subst" "0" "02416" "PCDH15_000062" "g.55849801G>C" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "rs137853004" "0" "" "" "g.54090041G>C" "" "pathogenic" "" "0000374784" "10" "99" "10" "55849801" "55849801" "subst" "0" "02416" "PCDH15_000062" "g.55849801G>C" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "rs137853004" "0" "" "" "g.54090041G>C" "" "pathogenic" "" "0000374785" "10" "99" "10" "55849801" "55849801" "subst" "0" "02416" "PCDH15_000062" "g.55849801G>C" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "rs137853004" "0" "" "" "g.54090041G>C" "" "pathogenic" "" "0000374786" "20" "99" "10" "55849801" "55849801" "subst" "0" "02416" "PCDH15_000062" "g.55849801G>C" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "rs137853004" "0" "" "" "g.54090041G>C" "" "pathogenic" "" "0000374787" "20" "99" "10" "55849801" "55849801" "subst" "0" "02416" "PCDH15_000062" "g.55849801G>C" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "rs137853004" "0" "" "" "g.54090041G>C" "" "pathogenic" "" "0000374788" "20" "99" "10" "55849801" "55849801" "subst" "0" "02416" "PCDH15_000062" "g.55849801G>C" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "rs137853004" "0" "" "" "g.54090041G>C" "" "pathogenic" "" "0000374789" "10" "95" "10" "56106186" "56106186" "subst" "0" "02416" "PCDH15_000063" "g.56106186T>C" "0/200 controls" "{PMID:Ahmed 2008:18719945}; USMA-{USMAPCDH15D178G:} USMA-{MSV3dQ96QU1p.Asp178Gly:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54346426T>C" "" "VUS" "ACMG" "0000374790" "10" "95" "10" "56106186" "56106186" "subst" "0" "02416" "PCDH15_000063" "g.56106186T>C" "0/200 controls" "{PMID:Ahmed 2008:18719945}; USMA-{USMAPCDH15D178G:} USMA-{MSV3dQ96QU1p.Asp178Gly:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54346426T>C" "" "VUS" "ACMG" "0000374791" "10" "95" "10" "56106186" "56106186" "subst" "0" "02416" "PCDH15_000063" "g.56106186T>C" "0/200 controls" "{PMID:Ahmed 2008:18719945}; USMA-{USMAPCDH15D178G:} USMA-{MSV3dQ96QU1p.Asp178Gly:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54346426T>C" "" "VUS" "ACMG" "0000374792" "10" "95" "10" "56106186" "56106186" "subst" "0" "02416" "PCDH15_000063" "g.56106186T>C" "0/200 controls" "{PMID:Ahmed 2008:18719945}; USMA-{USMAPCDH15D178G:} USMA-{MSV3dQ96QU1p.Asp178Gly:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54346426T>C" "" "VUS" "ACMG" "0000374793" "10" "95" "10" "56106186" "56106186" "subst" "0" "02416" "PCDH15_000063" "g.56106186T>C" "0/200 controls" "{PMID:Ahmed 2008:18719945}; USMA-{USMAPCDH15D178G:} USMA-{MSV3dQ96QU1p.Asp178Gly:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54346426T>C" "" "VUS" "ACMG" "0000374794" "20" "95" "10" "56106186" "56106186" "subst" "0" "02416" "PCDH15_000063" "g.56106186T>C" "0/200 controls" "{PMID:Ahmed 2008:18719945}; USMA-{USMAPCDH15D178G:} USMA-{MSV3dQ96QU1p.Asp178Gly:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54346426T>C" "" "VUS" "ACMG" "0000374795" "20" "95" "10" "56106186" "56106186" "subst" "0" "02416" "PCDH15_000063" "g.56106186T>C" "0/200 controls" "{PMID:Ahmed 2008:18719945}; USMA-{USMAPCDH15D178G:} USMA-{MSV3dQ96QU1p.Asp178Gly:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54346426T>C" "" "VUS" "ACMG" "0000374796" "20" "95" "10" "56106186" "56106186" "subst" "0" "02416" "PCDH15_000063" "g.56106186T>C" "0/200 controls" "{PMID:Ahmed 2008:18719945}; USMA-{USMAPCDH15D178G:} USMA-{MSV3dQ96QU1p.Asp178Gly:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54346426T>C" "" "VUS" "ACMG" "0000374797" "20" "95" "10" "56106186" "56106186" "subst" "0" "02416" "PCDH15_000063" "g.56106186T>C" "0/200 controls" "{PMID:Ahmed 2008:18719945}; USMA-{USMAPCDH15D178G:} USMA-{MSV3dQ96QU1p.Asp178Gly:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54346426T>C" "" "VUS" "ACMG" "0000374798" "20" "95" "10" "56106186" "56106186" "subst" "0" "02416" "PCDH15_000063" "g.56106186T>C" "0/200 controls" "{PMID:Ahmed 2008:18719945}; USMA-{USMAPCDH15D178G:} USMA-{MSV3dQ96QU1p.Asp178Gly:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54346426T>C" "" "VUS" "ACMG" "0000374799" "10" "99" "10" "55782695" "55782695" "del" "0" "02416" "PCDH15_000064" "g.55782695del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54022935del" "" "pathogenic" "" "0000374800" "10" "99" "10" "55782695" "55782695" "del" "0" "02416" "PCDH15_000064" "g.55782695del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54022935del" "" "pathogenic" "" "0000374801" "10" "99" "10" "55782695" "55782695" "del" "0" "02416" "PCDH15_000064" "g.55782695del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54022935del" "" "pathogenic" "" "0000374802" "10" "99" "10" "55782695" "55782695" "del" "0" "02416" "PCDH15_000064" "g.55782695del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54022935del" "" "pathogenic" "" "0000374803" "20" "99" "10" "55782695" "55782695" "del" "0" "02416" "PCDH15_000064" "g.55782695del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54022935del" "" "pathogenic" "" "0000374804" "20" "99" "10" "55782695" "55782695" "del" "0" "02416" "PCDH15_000064" "g.55782695del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54022935del" "" "pathogenic" "" "0000374805" "20" "99" "10" "55782695" "55782695" "del" "0" "02416" "PCDH15_000064" "g.55782695del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54022935del" "" "pathogenic" "" "0000374806" "20" "99" "10" "55782695" "55782695" "del" "0" "02416" "PCDH15_000064" "g.55782695del" "0/200 controls" "{PMID:Ahmed 2008:18719945}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54022935del" "" "pathogenic" "" "0000374807" "10" "99" "10" "55973708" "55973708" "del" "0" "02416" "PCDH15_000065" "g.55973708del" "0/100 controls" "{PMID:Alagramam 2001:11487575}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54213948del" "" "pathogenic" "" "0000374808" "10" "99" "10" "55973708" "55973708" "del" "0" "02416" "PCDH15_000065" "g.55973708del" "0/100 controls" "{PMID:Alagramam 2001:11487575}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54213948del" "" "pathogenic" "" "0000374809" "20" "99" "10" "55973708" "55973708" "del" "0" "02416" "PCDH15_000065" "g.55973708del" "0/100 controls" "{PMID:Alagramam 2001:11487575}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54213948del" "" "pathogenic" "" "0000374810" "20" "99" "10" "55973708" "55973708" "del" "0" "02416" "PCDH15_000065" "g.55973708del" "0/100 controls" "{PMID:Alagramam 2001:11487575}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54213948del" "" "pathogenic" "" "0000374811" "10" "99" "10" "55973708" "55973708" "del" "0" "02428" "PCDH15_000065" "g.55973708del" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.54213948del" "" "pathogenic" "" "0000374812" "10" "99" "10" "55973708" "55973708" "del" "0" "02428" "PCDH15_000065" "g.55973708del" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.54213948del" "" "pathogenic" "" "0000374813" "10" "99" "10" "55973708" "55973708" "del" "0" "02428" "PCDH15_000065" "g.55973708del" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.54213948del" "" "pathogenic" "" "0000374814" "1" "99" "10" "55973708" "55973708" "del" "0" "02428" "PCDH15_000065" "g.55973708del" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.54213948del" "" "pathogenic" "" "0000374815" "20" "99" "10" "55973708" "55973708" "del" "0" "02428" "PCDH15_000065" "g.55973708del" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.54213948del" "" "pathogenic" "" "0000374816" "20" "99" "10" "55973708" "55973708" "del" "0" "02428" "PCDH15_000065" "g.55973708del" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.54213948del" "" "pathogenic" "" "0000374817" "20" "99" "10" "55973708" "55973708" "del" "0" "02428" "PCDH15_000065" "g.55973708del" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.54213948del" "" "pathogenic" "" "0000374818" "21" "15" "10" "55581887" "55581889" "del" "0" "02416" "PCDH15_000066" "g.55581887_55581889del" "0/200 controls" "{PMID:Zheng 2005:15537665}" "none" "" "heterozygous" "Germline" "" "rs113363047" "0" "" "" "g.53822127_53822129del" "" "likely benign" "ACMG" "0000374819" "2" "15" "10" "55581887" "55581889" "del" "0" "02416" "PCDH15_000066" "g.55581887_55581889del" "" "{PMID:Ouyang 2005:15660226}" "none" "" "heterozygous" "Germline" "" "rs113363047" "0" "" "" "g.53822127_53822129del" "" "likely benign" "ACMG" "0000374820" "0" "15" "10" "55581887" "55581889" "del" "0" "02416" "PCDH15_000066" "g.55581887_55581889del" "" "{PMID:Ouyang 2005:15660226}" "none" "" "heterozygous" "Germline" "" "rs113363047" "0" "" "" "g.53822127_53822129del" "" "likely benign" "ACMG" "0000374821" "0" "15" "10" "55581887" "55581889" "del" "0" "02416" "PCDH15_000066" "g.55581887_55581889del" "" "{PMID:Vozzi 2011:21738395}" "none" "" "heterozygous; Mutation" "Germline" "" "rs113363047" "0" "" "" "g.53822127_53822129del" "" "likely benign" "ACMG" "0000374822" "2" "15" "10" "55581887" "55581889" "del" "0" "02416" "PCDH15_000066" "g.55581887_55581889del" "" "{PMID:Vozzi 2011:21738395}" "none" "" "heterozygous; Mutation" "Germline" "" "rs113363047" "0" "" "" "g.53822127_53822129del" "" "likely benign" "ACMG" "0000374823" "0" "15" "10" "55581887" "55581889" "del" "0" "02416" "PCDH15_000066" "g.55581887_55581889del" "" "{PMID:Bujakowska 2014:25468891}" "none" "" "heterozygous" "Germline" "" "rs113363047" "0" "" "" "g.53822127_53822129del" "" "likely benign" "ACMG" "0000374824" "1" "35" "10" "55591253" "55591253" "subst" "0.00173817" "02416" "PCDH15_000067" "g.55591253G>T" "0/200 controls" "{PMID:Ouyang 2005:15660226}; USMA-{USMAPCDH15Q1342K:} USMA-{MSV3dQ96QU1p.Gln1342Lys:}" "" "" "heterozygous" "Germline" "" "rs61731387" "0" "" "" "g.53831493G>T" "" "likely benign" "ACMG" "0000374825" "0" "99" "10" "55755492" "55755492" "subst" "8.14359E-6" "02416" "PCDH15_000068" "g.55755492G>A" "" "{PMID:Ouyang 2005:15660226}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.53995732G>A" "" "pathogenic" "" "0000374826" "0" "99" "10" "55973795" "55973798" "del" "0" "02416" "PCDH15_000069" "g.55973795_55973798del" "" "{PMID:Ouyang 2005:15660226}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.54214035_54214038del" "" "pathogenic" "" "0000374827" "0" "99" "10" "56424010" "56424010" "del" "0" "02416" "PCDH15_000070" "g.56424010del" "" "{PMID:Ouyang 2005:15660226}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.54664250del" "" "pathogenic" "" "0000374828" "10" "11" "10" "56287569" "56287569" "subst" "0.0778492" "02416" "PCDH15_000071" "g.56287569T>C" "" "{PMID:Baux 2008:18484607}" "+HphI" "" "homozygous" "Germline" "" "rs41274636" "0" "" "" "g.54527809T>C" "" "benign" "" "0000374829" "20" "11" "10" "56287569" "56287569" "subst" "0.0778492" "02416" "PCDH15_000071" "g.56287569T>C" "" "{PMID:Baux 2008:18484607}" "+HphI" "" "homozygous" "Germline" "" "rs41274636" "0" "" "" "g.54527809T>C" "" "benign" "" "0000374830" "0" "11" "10" "56287569" "56287569" "subst" "0.0778492" "02419" "PCDH15_000071" "g.56287569T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+HphI" "" "heterozygous; Neutral" "Germline" "" "rs41274636" "0" "" "" "g.54527809T>C" "" "benign" "" "0000374833" "10" "11" "10" "55996665" "55996665" "subst" "0.000142175" "02416" "PCDH15_000072" "g.55996665C>T" "" "{PMID:Baux 2008:18484607}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54236905C>T" "" "benign" "" "0000374834" "20" "11" "10" "55996665" "55996665" "subst" "0.000142175" "02416" "PCDH15_000072" "g.55996665C>T" "" "{PMID:Baux 2008:18484607}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54236905C>T" "" "benign" "" "0000374835" "10" "11" "10" "55955444" "55955444" "subst" "0.238381" "02416" "PCDH15_000073" "g.55955444T>G" "" "{PMID:Baux 2008:18484607}; USMA-{USMAPCDH15D435A:} USMA-{MSV3dQ96QU1p.Asp435Ala:}" "" "" "homozygous" "Germline" "" "rs4935502" "0" "" "" "g.54195684T>G" "" "benign" "" "0000374836" "20" "11" "10" "55955444" "55955444" "subst" "0.238381" "02416" "PCDH15_000073" "g.55955444T>G" "" "{PMID:Baux 2008:18484607}; USMA-{USMAPCDH15D435A:} USMA-{MSV3dQ96QU1p.Asp435Ala:}" "" "" "homozygous" "Germline" "" "rs4935502" "0" "" "" "g.54195684T>G" "" "benign" "" "0000374837" "10" "11" "10" "55955444" "55955444" "subst" "0.238381" "02419" "PCDH15_000073" "g.55955444T>G" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAPCDH15D435A:} USMA-{MSV3dQ96QU1p.Asp435Ala:}" "+AluI;+CviKI_1;-MboII;" "" "homozygous; Neutral" "Germline" "" "rs4935502" "0" "" "" "g.54195684T>G" "" "benign" "" "0000374838" "20" "11" "10" "55955444" "55955444" "subst" "0.238381" "02419" "PCDH15_000073" "g.55955444T>G" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAPCDH15D435A:} USMA-{MSV3dQ96QU1p.Asp435Ala:}" "+AluI;+CviKI_1;-MboII;" "" "homozygous; Neutral" "Germline" "" "rs4935502" "0" "" "" "g.54195684T>G" "" "benign" "" "0000374839" "10" "11" "10" "55955444" "55955444" "subst" "0.238381" "02416" "PCDH15_000073" "g.55955444T>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAPCDH15D435A:} USMA-{MSV3dQ96QU1p.Asp435Ala:}" "" "" "homozygous; non causative" "Germline" "" "rs4935502" "0" "" "" "g.54195684T>G" "" "benign" "" "0000374840" "20" "11" "10" "55955444" "55955444" "subst" "0.238381" "02416" "PCDH15_000073" "g.55955444T>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAPCDH15D435A:} USMA-{MSV3dQ96QU1p.Asp435Ala:}" "" "" "homozygous; non causative" "Germline" "" "rs4935502" "0" "" "" "g.54195684T>G" "" "benign" "" "0000374841" "10" "11" "10" "55955444" "55955444" "subst" "0.238381" "02416" "PCDH15_000073" "g.55955444T>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAPCDH15D435A:} USMA-{MSV3dQ96QU1p.Asp435Ala:}" "" "" "homozygous; non causative" "Germline" "" "rs4935502" "0" "" "" "g.54195684T>G" "" "benign" "" "0000374842" "20" "11" "10" "55955444" "55955444" "subst" "0.238381" "02416" "PCDH15_000073" "g.55955444T>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAPCDH15D435A:} USMA-{MSV3dQ96QU1p.Asp435Ala:}" "" "" "homozygous; non causative" "Germline" "" "rs4935502" "0" "" "" "g.54195684T>G" "" "benign" "" "0000374843" "10" "11" "10" "55955444" "55955444" "subst" "0.238381" "02416" "PCDH15_000073" "g.55955444T>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAPCDH15D435A:} USMA-{MSV3dQ96QU1p.Asp435Ala:}" "" "" "homozygous; non causative" "Germline" "" "rs4935502" "0" "" "" "g.54195684T>G" "" "benign" "" "0000374844" "20" "11" "10" "55955444" "55955444" "subst" "0.238381" "02416" "PCDH15_000073" "g.55955444T>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAPCDH15D435A:} USMA-{MSV3dQ96QU1p.Asp435Ala:}" "" "" "homozygous; non causative" "Germline" "" "rs4935502" "0" "" "" "g.54195684T>G" "" "benign" "" "0000374845" "10" "11" "10" "55892602" "55892602" "dup" "0" "02416" "PCDH15_000074" "g.55892602dup" "" "{PMID:Baux 2008:18484607}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54132842dup" "" "benign" "" "0000374846" "20" "11" "10" "55892602" "55892602" "dup" "0" "02416" "PCDH15_000074" "g.55892602dup" "" "{PMID:Baux 2008:18484607}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54132842dup" "" "benign" "" "0000374847" "10" "11" "10" "55782991" "55782991" "subst" "0.0375568" "02416" "PCDH15_000075" "g.55782991C>T" "" "{PMID:Baux 2008:18484607}" "" "" "homozygous" "Germline" "" "rs57385317" "0" "" "" "g.54023231C>T" "" "benign" "" "0000374848" "20" "11" "10" "55782991" "55782991" "subst" "0.0375568" "02416" "PCDH15_000075" "g.55782991C>T" "" "{PMID:Baux 2008:18484607}" "" "" "homozygous" "Germline" "" "rs57385317" "0" "" "" "g.54023231C>T" "" "benign" "" "0000374851" "10" "11" "10" "55779909" "55779909" "subst" "0.0925889" "02416" "PCDH15_000076" "g.55779909G>C" "" "{PMID:Baux 2008:18484607}" "" "" "homozygous" "Germline" "" "rs2660169" "0" "" "" "g.54020149G>C" "" "benign" "" "0000374852" "20" "11" "10" "55779909" "55779909" "subst" "0.0925889" "02416" "PCDH15_000076" "g.55779909G>C" "" "{PMID:Baux 2008:18484607}" "" "" "homozygous" "Germline" "" "rs2660169" "0" "" "" "g.54020149G>C" "" "benign" "" "0000374855" "10" "99" "10" "55698632" "55698632" "subst" "2.44019E-5" "02416" "PCDH15_000077" "g.55698632G>A" "" "{PMID:Baux 2008:18484607}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53938872G>A" "" "pathogenic" "" "0000374856" "20" "99" "10" "55698632" "55698632" "subst" "2.44019E-5" "02416" "PCDH15_000077" "g.55698632G>A" "" "{PMID:Baux 2008:18484607}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53938872G>A" "" "pathogenic" "" "0000374858" "0" "11" "10" "56089223" "56089223" "subst" "0" "02416" "PCDH15_000079" "g.56089223A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs11004240" "0" "" "" "g.54329463A>G" "" "benign" "" "0000374859" "10" "11" "10" "56089223" "56089223" "subst" "0" "02416" "PCDH15_000079" "g.56089223A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs11004240" "0" "" "" "g.54329463A>G" "" "benign" "" "0000374860" "20" "11" "10" "56089223" "56089223" "subst" "0" "02416" "PCDH15_000079" "g.56089223A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs11004240" "0" "" "" "g.54329463A>G" "" "benign" "" "0000374861" "10" "11" "10" "56089223" "56089223" "subst" "0" "02416" "PCDH15_000079" "g.56089223A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs11004240" "0" "" "" "g.54329463A>G" "" "benign" "" "0000374862" "20" "11" "10" "56089223" "56089223" "subst" "0" "02416" "PCDH15_000079" "g.56089223A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs11004240" "0" "" "" "g.54329463A>G" "" "benign" "" "0000374870" "0" "11" "10" "55996408" "55996408" "subst" "0" "02416" "PCDH15_000080" "g.55996408A>T" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs7915391" "0" "" "" "g.54236648A>T" "" "benign" "" "0000374871" "10" "11" "10" "55996408" "55996408" "subst" "0" "02416" "PCDH15_000080" "g.55996408A>T" "" "{PMID:Roux 2011:21436283}" "-SfaNI" "" "homozygous" "Germline" "" "rs7915391" "0" "" "" "g.54236648A>T" "" "benign" "" "0000374872" "20" "11" "10" "55996408" "55996408" "subst" "0" "02416" "PCDH15_000080" "g.55996408A>T" "" "{PMID:Roux 2011:21436283}" "-SfaNI" "" "homozygous" "Germline" "" "rs7915391" "0" "" "" "g.54236648A>T" "" "benign" "" "0000374873" "10" "11" "10" "55996408" "55996408" "subst" "0" "02416" "PCDH15_000080" "g.55996408A>T" "" "{PMID:Roux 2011:21436283}" "-SfaNI" "" "homozygous" "Germline" "" "rs7915391" "0" "" "" "g.54236648A>T" "" "benign" "" "0000374874" "20" "11" "10" "55996408" "55996408" "subst" "0" "02416" "PCDH15_000080" "g.55996408A>T" "" "{PMID:Roux 2011:21436283}" "-SfaNI" "" "homozygous" "Germline" "" "rs7915391" "0" "" "" "g.54236648A>T" "" "benign" "" "0000374882" "0" "11" "10" "55973589" "55973589" "subst" "0" "02416" "PCDH15_000081" "g.55973589C>T" "" "{PMID:Roux 2011:21436283}" "+AccI" "" "heterozygous" "Germline" "" "rs10825279" "0" "" "" "g.54213829C>T" "" "benign" "" "0000374883" "0" "11" "10" "55973589" "55973589" "subst" "0" "02416" "PCDH15_000081" "g.55973589C>T" "" "{PMID:Roux 2011:21436283}" "+AccI" "" "heterozygous" "Germline" "" "rs10825279" "0" "" "" "g.54213829C>T" "" "benign" "" "0000374884" "10" "11" "10" "55973589" "55973589" "subst" "0" "02416" "PCDH15_000081" "g.55973589C>T" "" "{PMID:Roux 2011:21436283}" "+AccI" "" "homozygous" "Germline" "" "rs10825279" "0" "" "" "g.54213829C>T" "" "benign" "" "0000374885" "20" "11" "10" "55973589" "55973589" "subst" "0" "02416" "PCDH15_000081" "g.55973589C>T" "" "{PMID:Roux 2011:21436283}" "+AccI" "" "homozygous" "Germline" "" "rs10825279" "0" "" "" "g.54213829C>T" "" "benign" "" "0000374892" "0" "11" "10" "55838950" "55838950" "subst" "0" "02416" "PCDH15_000083" "g.55838950A>G" "" "{PMID:Roux 2011:21436283}" "-MboII" "" "heterozygous" "Germline" "" "rs1911433" "0" "" "" "g.54079190A>G" "" "benign" "" "0000374893" "10" "11" "10" "55838950" "55838950" "subst" "0" "02416" "PCDH15_000083" "g.55838950A>G" "" "{PMID:Roux 2011:21436283}" "-MboII" "" "homozygous" "Germline" "" "rs1911433" "0" "" "" "g.54079190A>G" "" "benign" "" "0000374894" "20" "11" "10" "55838950" "55838950" "subst" "0" "02416" "PCDH15_000083" "g.55838950A>G" "" "{PMID:Roux 2011:21436283}" "-MboII" "" "homozygous" "Germline" "" "rs1911433" "0" "" "" "g.54079190A>G" "" "benign" "" "0000374902" "10" "11" "10" "55755237" "55755237" "subst" "0" "02416" "PCDH15_000085" "g.55755237C>T" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs2135721" "0" "" "" "g.53995477C>T" "" "benign" "" "0000374903" "20" "11" "10" "55755237" "55755237" "subst" "0" "02416" "PCDH15_000085" "g.55755237C>T" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs2135721" "0" "" "" "g.53995477C>T" "" "benign" "" "0000374906" "10" "11" "10" "55721761" "55721761" "subst" "0" "02416" "PCDH15_000086" "g.55721761A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs2456699" "0" "" "" "g.53962001A>G" "" "benign" "" "0000374907" "20" "11" "10" "55721761" "55721761" "subst" "0" "02416" "PCDH15_000086" "g.55721761A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs2456699" "0" "" "" "g.53962001A>G" "" "benign" "" "0000374908" "10" "11" "10" "55721761" "55721761" "subst" "0" "02416" "PCDH15_000086" "g.55721761A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs2456699" "0" "" "" "g.53962001A>G" "" "benign" "" "0000374909" "20" "11" "10" "55721761" "55721761" "subst" "0" "02416" "PCDH15_000086" "g.55721761A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs2456699" "0" "" "" "g.53962001A>G" "" "benign" "" "0000374910" "1" "99" "10" "56246204" "56301416" "del" "0" "02416" "PCDH15_000087" "g.56246204_56301416del" "" "{PMID:Aller 2010:20538994}, {PMID:Jaijo 2012:22815625}" "" "" "" "Germline" "" "" "0" "" "" "g.54486444_54541656del" "" "pathogenic (recessive)" "" "0000374911" "2" "99" "10" "56109539" "56191483" "dup" "0" "02416" "PCDH15_000088" "g.56109539_56191483dup" "" "{PMID:Aller 2010:20538994}, {PMID:Jaijo 2012:22815625}" "" "" "" "Germline" "" "" "0" "" "" "g.54349779_54431723dup" "" "pathogenic (recessive)" "" "0000374912" "3" "99" "10" "56109539" "56191483" "dup" "0" "02416" "PCDH15_000088" "g.56109539_56191483dup" "" "{PMID:Aller 2010:20538994}, {PMID:Jaijo 2012:22815625}" "" "" "" "Germline" "" "" "0" "" "" "g.54349779_54431723dup" "" "pathogenic (recessive)" "" "0000374914" "0" "99" "10" "56287572" "56287637" "del" "0" "02416" "PCDH15_000089" "g.56287572_56287637del" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000374915" "10" "11" "10" "55587034" "55587034" "subst" "0" "02416" "PCDH15_000090" "g.55587034A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs10740555" "0" "" "" "g.53827274A>G" "" "benign" "" "0000374916" "20" "11" "10" "55587034" "55587034" "subst" "0" "02416" "PCDH15_000090" "g.55587034A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs10740555" "0" "" "" "g.53827274A>G" "" "benign" "" "0000374917" "0" "11" "10" "55587034" "55587034" "subst" "0" "02416" "PCDH15_000090" "g.55587034A>G" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs10740555" "0" "" "" "g.53827274A>G" "" "benign" "" "0000374921" "11" "75" "10" "56128947" "56128947" "subst" "0" "02416" "PCDH15_000091" "g.56128947A>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMAPCDH15V136A:} USMA-{MSV3dQ96QU1p.Val136Ala:}" "+AciI" "" "heterozygous" "Germline" "" "" "0" "" "" "g.54369187A>G" "" "VUS" "ACMG" "0000374922" "21" "99" "10" "55587153" "55600256" "del" "0" "02416" "PCDH15_000092" "g.55587153_55600256del" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000374925" "10" "11" "10" "55955610" "55955610" "subst" "0.161682" "02416" "PCDH15_000093" "g.55955610C>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMAPCDH15G380S:} USMA-{MSV3dQ96QU1p.Gly380Ser:}" "+BsrI;-MspI;-HpaII;-BsrFI;" "" "homozygous" "Germline" "" "rs10825269" "0" "" "" "g.54195850C>T" "" "benign" "" "0000374926" "20" "11" "10" "55955610" "55955610" "subst" "0.161682" "02416" "PCDH15_000093" "g.55955610C>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMAPCDH15G380S:} USMA-{MSV3dQ96QU1p.Gly380Ser:}" "+BsrI;-MspI;-HpaII;-BsrFI;" "" "homozygous" "Germline" "" "rs10825269" "0" "" "" "g.54195850C>T" "" "benign" "" "0000374927" "10" "11" "10" "55955610" "55955610" "subst" "0.161682" "02419" "PCDH15_000093" "g.55955610C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAPCDH15G380S:} USMA-{MSV3dQ96QU1p.Gly380Ser:}" "+BsrI;-MspI;-HpaII;-BsrFI;" "" "homozygous; Neutral" "Germline" "" "rs10825269" "0" "" "" "g.54195850C>T" "" "benign" "" "0000374928" "20" "11" "10" "55955610" "55955610" "subst" "0.161682" "02419" "PCDH15_000093" "g.55955610C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAPCDH15G380S:} USMA-{MSV3dQ96QU1p.Gly380Ser:}" "+BsrI;-MspI;-HpaII;-BsrFI;" "" "homozygous; Neutral" "Germline" "" "rs10825269" "0" "" "" "g.54195850C>T" "" "benign" "" "0000374929" "0" "11" "10" "55955610" "55955610" "subst" "0.161682" "02416" "PCDH15_000093" "g.55955610C>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMAPCDH15G380S:} USMA-{MSV3dQ96QU1p.Gly380Ser:}" "+BsrI;-MspI;-HpaII;-BsrFI;" "" "heterozygous; non causative" "Germline" "" "rs10825269" "0" "" "" "g.54195850C>T" "" "benign" "" "0000374930" "10" "11" "10" "55955485" "55955485" "subst" "0.164539" "02416" "PCDH15_000094" "g.55955485A>G" "" "{PMID:Roux 2011:21436283}" "+MnlI" "" "homozygous" "Germline" "" "rs7921598" "0" "" "" "g.54195725A>G" "" "benign" "" "0000374931" "20" "11" "10" "55955485" "55955485" "subst" "0.164539" "02416" "PCDH15_000094" "g.55955485A>G" "" "{PMID:Roux 2011:21436283}" "+MnlI" "" "homozygous" "Germline" "" "rs7921598" "0" "" "" "g.54195725A>G" "" "benign" "" "0000374934" "10" "15" "10" "55913121" "55913121" "subst" "0" "02416" "PCDH15_000095" "g.55913121C>T" "" "{PMID:Roux 2011:21436283}" "+MnlI;+MmeI;" "" "homozygous" "Germline" "" "rs41274632" "0" "" "" "g.54153361C>T" "" "likely benign" "ACMG" "0000374935" "20" "15" "10" "55913121" "55913121" "subst" "0" "02416" "PCDH15_000095" "g.55913121C>T" "" "{PMID:Roux 2011:21436283}" "+MnlI;+MmeI;" "" "homozygous" "Germline" "" "rs41274632" "0" "" "" "g.54153361C>T" "" "likely benign" "ACMG" "0000374936" "10" "99" "10" "55698574" "55698574" "subst" "0" "02416" "PCDH15_000096" "g.55698574C>T" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.53938814C>T" "" "pathogenic" "" "0000374937" "20" "99" "10" "55698574" "55698574" "subst" "0" "02416" "PCDH15_000096" "g.55698574C>T" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.53938814C>T" "" "pathogenic" "" "0000374938" "21" "11" "10" "55663003" "55826645" "del" "0" "02416" "PCDH15_000097" "g.55663003_55826645del" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000374939" "0" "35" "10" "55944991" "55944991" "subst" "4.06329E-6" "02416" "PCDH15_000098" "g.55944991T>C" "" "{PMID:Malm 2010:21174530}; USMA-{USMAPCDH15Y448C:} USMA-{MSV3dQ96QU1p.Tyr448Cys:}" "+BsgI;+HpyCH4V;" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.54185231T>C" "" "likely benign" "ACMG" "0000374940" "10" "99" "10" "55839090" "55839090" "subst" "0" "02416" "PCDH15_000099" "g.55839090C>A" "0/192 controls" "{PMID:Duman 2011:21117948}" "-HphI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.54079330C>A" "" "pathogenic" "" "0000374941" "10" "99" "10" "55839090" "55839090" "subst" "0" "02416" "PCDH15_000099" "g.55839090C>A" "0/192 controls" "{PMID:Duman 2011:21117948}" "-HphI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.54079330C>A" "" "pathogenic" "" "0000374942" "10" "99" "10" "55839090" "55839090" "subst" "0" "02416" "PCDH15_000099" "g.55839090C>A" "0/192 controls" "{PMID:Duman 2011:21117948}" "-HphI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.54079330C>A" "" "pathogenic" "" "0000374943" "20" "99" "10" "55839090" "55839090" "subst" "0" "02416" "PCDH15_000099" "g.55839090C>A" "0/192 controls" "{PMID:Duman 2011:21117948}" "-HphI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.54079330C>A" "" "pathogenic" "" "0000374944" "20" "99" "10" "55839090" "55839090" "subst" "0" "02416" "PCDH15_000099" "g.55839090C>A" "0/192 controls" "{PMID:Duman 2011:21117948}" "-HphI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.54079330C>A" "" "pathogenic" "" "0000374945" "20" "99" "10" "55839090" "55839090" "subst" "0" "02416" "PCDH15_000099" "g.55839090C>A" "0/192 controls" "{PMID:Duman 2011:21117948}" "-HphI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.54079330C>A" "" "pathogenic" "" "0000374950" "0" "11" "10" "55583260" "55583261" "ins" "0" "02419" "PCDH15_000105" "g.55583260_55583261insTGTC" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyCH4III" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.53823500_53823501insTGTC" "" "benign" "" "0000374951" "0" "11" "10" "55583260" "55583261" "ins" "0" "02419" "PCDH15_000105" "g.55583260_55583261insTGTC" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyCH4III" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.53823500_53823501insTGTC" "" "benign" "" "0000374952" "0" "11" "10" "55583260" "55583261" "ins" "0" "02419" "PCDH15_000105" "g.55583260_55583261insTGTC" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyCH4III" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.53823500_53823501insTGTC" "" "benign" "" "0000374953" "0" "11" "10" "55583260" "55583261" "ins" "0" "02419" "PCDH15_000105" "g.55583260_55583261insTGTC" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyCH4III" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.53823500_53823501insTGTC" "" "benign" "" "0000374954" "0" "11" "10" "55755303" "55755303" "subst" "0" "02419" "PCDH15_000106" "g.55755303T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+HphI" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs78521134" "0" "" "" "g.53995543T>C" "" "benign" "" "0000374955" "0" "11" "10" "55755303" "55755303" "subst" "0" "02419" "PCDH15_000106" "g.55755303T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+HphI" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs78521134" "0" "" "" "g.53995543T>C" "" "benign" "" "0000374956" "0" "11" "10" "55755303" "55755303" "subst" "0" "02419" "PCDH15_000106" "g.55755303T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+HphI" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs78521134" "0" "" "" "g.53995543T>C" "" "benign" "" "0000374957" "0" "11" "10" "55698770" "55698770" "subst" "0" "02419" "PCDH15_000107" "g.55698770A>G" "" "{PMID:Le Quesne Stabej 2012:22135276}" "-Tsp509I;-ApoI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs146400185" "0" "" "" "g.53939010A>G" "" "benign" "" "0000374958" "0" "11" "10" "55698770" "55698770" "subst" "0" "02419" "PCDH15_000107" "g.55698770A>G" "" "{PMID:Le Quesne Stabej 2012:22135276}" "-Tsp509I;-ApoI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs146400185" "0" "" "" "g.53939010A>G" "" "benign" "" "0000374959" "0" "11" "10" "55698770" "55698770" "subst" "0" "02419" "PCDH15_000107" "g.55698770A>G" "" "{PMID:Le Quesne Stabej 2012:22135276}" "-Tsp509I;-ApoI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs146400185" "0" "" "" "g.53939010A>G" "" "benign" "" "0000374960" "0" "11" "10" "55698770" "55698770" "subst" "0" "02419" "PCDH15_000107" "g.55698770A>G" "" "{PMID:Le Quesne Stabej 2012:22135276}" "-Tsp509I;-ApoI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs146400185" "0" "" "" "g.53939010A>G" "" "benign" "" "0000374961" "0" "11" "10" "55583260" "55583261" "ins" "0" "02419" "PCDH15_000108" "g.55583260_55583261insTGTC" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyCH4III" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.53823500_53823501insTGTC" "" "benign" "" "0000374962" "0" "11" "10" "55782992" "55782992" "subst" "0.00209278" "02419" "PCDH15_000109" "g.55782992G>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+DdeI;+HphI;-HpyCH4IV;-BsaAI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs35308619" "0" "" "" "g.54023232G>C" "" "benign" "" "0000374963" "0" "11" "10" "55782992" "55782992" "subst" "0.00209278" "02419" "PCDH15_000109" "g.55782992G>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+DdeI;+HphI;-HpyCH4IV;-BsaAI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs35308619" "0" "" "" "g.54023232G>C" "" "benign" "" "0000374964" "0" "11" "10" "55782992" "55782992" "subst" "0.00209278" "02419" "PCDH15_000109" "g.55782992G>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+DdeI;+HphI;-HpyCH4IV;-BsaAI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs35308619" "0" "" "" "g.54023232G>C" "" "benign" "" "0000374965" "0" "15" "10" "56129055" "56129055" "subst" "1.23753E-5" "02419" "PCDH15_000110" "g.56129055T>A" "" "{PMID:Le Quesne Stabej 2012:22135276}" "-SfaNI" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.54369295T>A" "" "likely benign" "ACMG" "0000374966" "0" "15" "10" "55780078" "55780078" "subst" "0" "02419" "PCDH15_000111" "g.55780078C>G" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+BslI" "" "heterozygous; UV1" "Germline" "" "rs111033516" "0" "" "" "g.54020318C>G" "" "likely benign" "ACMG" "0000374967" "0" "15" "10" "55780078" "55780078" "subst" "0" "02419" "PCDH15_000111" "g.55780078C>G" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+BslI" "" "heterozygous; UV1" "Germline" "" "rs111033516" "0" "" "" "g.54020318C>G" "" "likely benign" "ACMG" "0000374968" "0" "15" "10" "55780078" "55780078" "subst" "0" "02419" "PCDH15_000111" "g.55780078C>G" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+BslI" "" "heterozygous; UV1" "Germline" "" "rs111033516" "0" "" "" "g.54020318C>G" "" "likely benign" "ACMG" "0000374969" "0" "15" "10" "55780078" "55780078" "subst" "0" "02419" "PCDH15_000111" "g.55780078C>G" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+BslI" "" "heterozygous; UV1" "Germline" "" "rs111033516" "0" "" "" "g.54020318C>G" "" "likely benign" "ACMG" "0000374970" "0" "15" "10" "55600068" "55600068" "subst" "0.00502408" "02419" "PCDH15_000112" "g.55600068A>G" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "rs149867749" "0" "" "" "g.53840308A>G" "" "likely benign" "ACMG" "0000374971" "0" "15" "10" "55600068" "55600068" "subst" "0.00502408" "02419" "PCDH15_000112" "g.55600068A>G" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "rs149867749" "0" "" "" "g.53840308A>G" "" "likely benign" "ACMG" "0000374972" "0" "11" "10" "55583260" "55583261" "ins" "0" "02419" "PCDH15_000113" "g.55583260_55583261insTGTC" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyCH4III" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.53823500_53823501insTGTC" "" "benign" "" "0000374973" "0" "15" "10" "55581779" "55581779" "subst" "0.00926076" "02419" "PCDH15_000114" "g.55581779T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAPCDH15I1903V:} USMA-{MSV3dQ96QU1p.Ile1903Val:}" "none" "" "heterozygous; UV1" "Germline" "" "rs79854148" "0" "" "" "g.53822019T>C" "" "likely benign" "ACMG" "0000374974" "0" "15" "10" "55581779" "55581779" "subst" "0.00926076" "02419" "PCDH15_000114" "g.55581779T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAPCDH15I1903V:} USMA-{MSV3dQ96QU1p.Ile1903Val:}" "none" "" "heterozygous; UV1" "Germline" "" "rs79854148" "0" "" "" "g.53822019T>C" "" "likely benign" "ACMG" "0000374975" "10" "15" "10" "55996771" "55996771" "subst" "0" "02419" "PCDH15_000115" "g.55996771G>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.54237011G>T" "" "likely benign" "ACMG" "0000374976" "20" "15" "10" "55996771" "55996771" "subst" "0" "02419" "PCDH15_000115" "g.55996771G>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.54237011G>T" "" "likely benign" "ACMG" "0000374977" "0" "15" "10" "55783039" "55783039" "subst" "0" "02419" "PCDH15_000116" "g.55783039A>G" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.54023279A>G" "" "likely benign" "ACMG" "0000374978" "0" "11" "10" "55839021" "55839021" "subst" "0" "02419" "PCDH15_000117" "g.55839021T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Tsp45I" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs139399915" "0" "" "" "g.54079261T>C" "" "benign" "" "0000374979" "0" "11" "10" "55839021" "55839021" "subst" "0" "02419" "PCDH15_000117" "g.55839021T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Tsp45I" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs139399915" "0" "" "" "g.54079261T>C" "" "benign" "" "0000374980" "0" "11" "10" "55839021" "55839021" "subst" "0" "02419" "PCDH15_000117" "g.55839021T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Tsp45I" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs139399915" "0" "" "" "g.54079261T>C" "" "benign" "" "0000374981" "0" "11" "10" "55839021" "55839021" "subst" "0" "02419" "PCDH15_000117" "g.55839021T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Tsp45I" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs139399915" "0" "" "" "g.54079261T>C" "" "benign" "" "0000374982" "21" "15" "10" "55582512" "55582512" "subst" "0.000259981" "02419" "PCDH15_000118" "g.55582512T>G" "1/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MmeI;-AcuI;" "" "heterozygous; UV1" "Germline" "" "rs147993163" "0" "" "" "g.53822752T>G" "" "likely benign" "ACMG" "0000374983" "0" "11" "10" "56076897" "56076897" "subst" "0" "02419" "PCDH15_000119" "g.56076897C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "-Hpy188I" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs11004226" "0" "" "" "g.54317137C>T" "" "benign" "" "0000374984" "10" "11" "10" "56076897" "56076897" "subst" "0" "02419" "PCDH15_000119" "g.56076897C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "-Hpy188I" "" "homozygous; pathogenicity not assessed" "Germline" "" "rs11004226" "0" "" "" "g.54317137C>T" "" "benign" "" "0000374985" "20" "11" "10" "56076897" "56076897" "subst" "0" "02419" "PCDH15_000119" "g.56076897C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "-Hpy188I" "" "homozygous; pathogenicity not assessed" "Germline" "" "rs11004226" "0" "" "" "g.54317137C>T" "" "benign" "" "0000374986" "0" "35" "10" "55582223" "55582223" "subst" "0" "02419" "PCDH15_000120" "g.55582223G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAPCDH15P1755S:} USMA-{MSV3dQ96QU1p.Pro1755Ser:}" "+MboII;-BseRI;-MnlI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.53822463G>A" "" "likely benign" "ACMG" "0000374987" "0" "15" "10" "56423830" "56423830" "subst" "0" "02419" "PCDH15_000121" "g.56423830A>G" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.54664070A>G" "" "likely benign" "ACMG" "0000374988" "0" "15" "10" "55581509" "55581509" "subst" "0" "02419" "PCDH15_000122" "g.55581509T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+TspRI" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.53821749T>C" "" "likely benign" "ACMG" "0000374989" "0" "15" "10" "55581550" "55581550" "subst" "0" "02419" "PCDH15_000123" "g.55581550A>G" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188I;-Tsp509I;-ApoI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.53821790A>G" "" "likely benign" "ACMG" "0000374990" "0" "15" "10" "55826740" "55826740" "subst" "0" "02419" "PCDH15_000124" "g.55826740A>G" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+BsmBI;+BsmAI;+HgaI;-SfaNI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.54066980A>G" "" "likely benign" "ACMG" "0000374991" "0" "11" "10" "55626625" "55626625" "subst" "0.00442998" "02419" "PCDH15_000125" "g.55626625G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyAV;-MnlI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.53866865G>A" "" "benign" "" "0000374992" "0" "11" "10" "55626625" "55626625" "subst" "0.00442998" "02419" "PCDH15_000125" "g.55626625G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyAV;-MnlI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.53866865G>A" "" "benign" "" "0000374993" "0" "11" "10" "55626625" "55626625" "subst" "0.00442998" "02419" "PCDH15_000125" "g.55626625G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyAV;-MnlI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.53866865G>A" "" "benign" "" "0000374994" "0" "11" "10" "55626625" "55626625" "subst" "0.00442998" "02419" "PCDH15_000125" "g.55626625G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyAV;-MnlI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.53866865G>A" "" "benign" "" "0000374995" "0" "15" "10" "55588537" "55588537" "subst" "0" "02419" "PCDH15_000126" "g.55588537C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+AluI" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.53828777C>T" "" "likely benign" "ACMG" "0000374996" "10" "99" "10" "55755454" "55755454" "del" "0" "02419" "PCDH15_000127" "g.55755454del" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.53995694del" "" "pathogenic" "" "0000374997" "20" "99" "10" "55755454" "55755454" "del" "0" "02419" "PCDH15_000127" "g.55755454del" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.53995694del" "" "pathogenic" "" "0000374998" "0" "35" "10" "55582122" "55582127" "dup" "0" "02419" "PCDH15_000128" "g.55582122_55582127dup" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+MnlI;+EarI;+MboII;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.53822362_53822367dup" "" "likely benign" "ACMG" "0000375001" "0" "15" "10" "55996755" "55996755" "subst" "0" "02419" "PCDH15_000130" "g.55996755C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "-BsmAI" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs12251663" "0" "" "" "g.54236995C>T" "" "likely benign" "ACMG" "0000375002" "0" "99" "10" "55626401" "55626401" "subst" "0" "02419" "PCDH15_000131" "g.55626401C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.53866641C>T" "" "pathogenic" "" "0000375003" "2" "99" "10" "55626401" "55626401" "subst" "0" "02428" "PCDH15_000131" "g.55626401C>T" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.53866641C>T" "" "pathogenic" "" "0000375004" "0" "15" "10" "55782590" "55782590" "subst" "0" "02419" "PCDH15_000132" "g.55782590C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.54022830C>T" "" "likely benign" "ACMG" "0000375005" "20" "11" "10" "55582239" "55582241" "del" "0" "02419" "PCDH15_000133" "g.55582239_55582241del" "5/844 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-MnlI" "" "heterozygous; Neutral" "Germline" "" "" "0" "" "" "g.53822479_53822481del" "" "benign" "" "0000375006" "0" "15" "10" "56106289" "56106289" "subst" "0" "02419" "PCDH15_000134" "g.56106289C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Tsp509I;+MfeI;-BsgI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.54346529C>T" "" "likely benign" "ACMG" "0000375007" "10" "99" "10" "55663001" "55663001" "subst" "4.06981E-6" "02419" "PCDH15_000135" "g.55663001A>G" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+NlaIII;+FatI;+SphI;+CviAII;+Cac8I;+NspI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.53903241A>G" "" "pathogenic" "" "0000375008" "20" "99" "10" "55663001" "55663001" "subst" "4.06981E-6" "02419" "PCDH15_000135" "g.55663001A>G" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+NlaIII;+FatI;+SphI;+CviAII;+Cac8I;+NspI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.53903241A>G" "" "pathogenic" "" "0000375009" "0" "15" "10" "55582088" "55582088" "subst" "0.00140531" "02419" "PCDH15_000136" "g.55582088C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAPCDH15V1800I:} USMA-{MSV3dQ96QU1p.Val1800Ile:}" "none" "" "heterozygous; UV1" "Germline" "" "rs111033463" "0" "" "" "g.53822328C>T" "" "likely benign" "ACMG" "0000375010" "0" "15" "10" "55996720" "55996720" "subst" "0.00477856" "02419" "PCDH15_000137" "g.55996720C>A" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+MseI" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs116339167" "0" "" "" "g.54236960C>A" "" "likely benign" "ACMG" "0000375013" "0" "15" "10" "55944863" "55944863" "subst" "5.29247E-5" "02419" "PCDH15_000138" "g.55944863A>G" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+NlaIII;+FatI;+NsiI;+CviAII;+NspI;+HpyCH4V;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.54185103A>G" "" "likely benign" "ACMG" "0000375014" "0" "15" "10" "55826765" "55826765" "subst" "0" "02419" "PCDH15_000139" "g.55826765G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+MseI;-DdeI;-Bpu10I;-AluI;-CviKI_1;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.54067005G>A" "" "likely benign" "ACMG" "0000375015" "10" "15" "10" "56076916" "56076916" "subst" "0" "02419" "PCDH15_000140" "g.56076916A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+TspRI" "" "homozygous; pathogenicity not assessed" "Germline" "" "rs116363748" "0" "" "" "g.54317156A>G" "" "likely benign" "ACMG" "0000375016" "20" "15" "10" "56076916" "56076916" "subst" "0" "02419" "PCDH15_000140" "g.56076916A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+TspRI" "" "homozygous; pathogenicity not assessed" "Germline" "" "rs116363748" "0" "" "" "g.54317156A>G" "" "likely benign" "ACMG" "0000375017" "0" "15" "10" "55700374" "55700374" "subst" "0" "02419" "PCDH15_000141" "g.55700374G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs45563941" "0" "" "" "g.53940614G>A" "" "likely benign" "ACMG" "0000375018" "0" "15" "10" "55616777" "55616777" "subst" "0" "02419" "PCDH15_000142" "g.55616777G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+BtsCI;+BccI;+FokI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.53857017G>A" "" "likely benign" "ACMG" "0000375019" "0" "15" "10" "55582127" "55582127" "subst" "0.0187812" "02419" "PCDH15_000143" "g.55582127G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAPCDH15P1787S:} USMA-{MSV3dQ96QU1p.Pro1787Ser:}" "-MnlI" "" "heterozygous; UV1" "Germline" "" "rs61862390" "0" "" "" "g.53822367G>A" "" "likely benign" "ACMG" "0000375020" "0" "15" "10" "55849613" "55849613" "subst" "0" "02419" "PCDH15_000144" "g.55849613T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+BfaI" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.54089853T>C" "" "likely benign" "ACMG" "0000375021" "0" "15" "10" "55839229" "55839229" "subst" "0.00214244" "02419" "PCDH15_000145" "g.55839229T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyCH4IV" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs149992956" "0" "" "" "g.54079469T>C" "" "likely benign" "ACMG" "0000375022" "0" "15" "10" "55755755" "55755755" "subst" "0" "02419" "PCDH15_000146" "g.55755755G>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Tsp509;+XmnI;+ApoI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs140975710" "0" "" "" "g.53995995G>T" "" "likely benign" "ACMG" "0000375023" "0" "15" "10" "55616946" "55616946" "subst" "0" "02419" "PCDH15_000147" "g.55616946T>C" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAPCDH15E1265D:} USMA-{MSV3dQ96QU1p.Glu1265Asp:}" "+MnlI;+AlwI;-BglII;-MboII;" "" "heterozygous; UV1" "Germline" "" "rs111033496" "0" "" "" "g.53857186T>C" "" "likely benign" "ACMG" "0000375024" "0" "15" "10" "55581936" "55581936" "subst" "0.00103589" "02419" "PCDH15_000148" "g.55581936G>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "rs112097891" "0" "" "" "g.53822176G>T" "" "likely benign" "ACMG" "0000375025" "0" "15" "10" "55955705" "55955705" "subst" "0" "02419" "PCDH15_000149" "g.55955705G>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.54195945G>T" "" "likely benign" "ACMG" "0000375026" "20" "15" "10" "55663134" "55663134" "subst" "0.0059727" "02416" "PCDH15_000150" "g.55663134G>A" "" "{PMID:Neveling 2012:22334370}" "+AcuI;+HpyAV;-BpmI;-BssKI;-StyD4I;-BstNI;" "" "heterozygous; Predicted benign" "Germline" "" "rs111739360" "0" "" "" "g.53903374G>A" "" "likely benign" "ACMG" "0000375029" "11" "75" "10" "55582934" "55582935" "ins" "0" "02416" "PCDH15_000151" "g.55582934_55582935insCAA" "" "{PMID:Neveling 2012:22334370}" "+BtsCI;+FokI;-Hpy188I;" "" "heterozygous; Predicted benign" "Germline" "" "" "0" "" "" "g.53823174_53823175insCAA" "" "likely benign" "ACMG" "0000375030" "3" "99" "10" "55626400" "55626400" "dup" "0" "02416" "PCDH15_000152" "g.55626400dup" "" "{PMID:Jaijo 2012:22815625}" "+MseI" "3717+2dupT" "pathogenic - was shown in Aparisi et al., 2013 to affect splicing (p.(Val1242Argfs*2) and p.(Ala1168_Leu1239del)) - New donor site and exon skipping" "Germline" "" "" "0" "" "" "g.53866640dup" "" "pathogenic" "" "0000375031" "2" "99" "10" "55626400" "55626400" "dup" "0" "02416" "PCDH15_000152" "g.55626400dup" "" "{PMID:Jaijo 2012:22815625}" "+MseI" "Pathogenic - was shown in Aparisi et al., 2013 to affect splicing (p.(Val1242Argfs*2) and p.(Ala1168_Leu1239del)) - New donor site and exon skipping" "homozygous" "Germline" "" "" "0" "" "" "g.53866640dup" "" "pathogenic" "" "0000375033" "11" "99" "10" "55955443" "55955444" "ins" "0" "02416" "PCDH15_000153" "g.55955443_55955444insG" "" "{PMID:Jaijo 2012:22815625}" "+BbsI;+HpyCH4III;" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.54195683_54195684insG" "" "pathogenic" "" "0000375034" "0" "35" "10" "55955543" "55955543" "subst" "0.000402073" "02416" "PCDH15_000154" "g.55955543C>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAPCDH15G402A:} USMA-{MSV3dQ96QU1p.Gly402Ala:}" "" "" "heterozygous" "Germline" "" "rs145017164" "0" "" "" "g.54195783C>G" "" "likely benign" "ACMG" "0000375035" "0" "75" "10" "56077032" "56077032" "subst" "4.06557E-6" "02416" "PCDH15_000155" "g.56077032G>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAPCDH15P292R:} USMA-{MSV3dO75445p.Pro292Arg:}" "+AvaI;+BsoBI;-BsaWI;-HpaII;-MspI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.54317272G>C" "" "VUS" "ACMG" "0000375036" "0" "15" "10" "56423968" "56423968" "subst" "4.0836E-6" "02416" "PCDH15_000156" "g.56423968A>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAPCDH15S19T:} USMA-{MSV3dQ96QU1p.Ser19Thr:}" "+BaeGI;-BanII;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.54664208A>T" "" "likely benign" "ACMG" "0000375047" "0" "99" "10" "55616950" "55616953" "del" "0" "02416" "PCDH15_000162" "g.55616950_55616953del" "" "{PMID:Glöcke 2013:23591405}" "" "" "heterozygous; likely pathogenic" "Germline" "" "" "0" "" "" "g.53857190_53857193del" "" "pathogenic" "" "0000375048" "0" "99" "10" "56423932" "56424050" "del" "0" "02416" "PCDH15_000163" "g.56423932_56424050del" "" "{PMID:Glöcke 2013:23591405}" "" "E02del" "heterozygous; likely pathogenic\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000375049" "10" "75" "10" "55955462" "55955462" "subst" "0" "02416" "PCDH15_000164" "g.55955462A>G" "0/400 controls" "{PMID:Yang 2013:23767834}; USMA-{USMAPCDH15L429P:} USMA-{MSV3dQ96QU1p.Leu429Pro:}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.54195702A>G" "" "VUS" "ACMG" "0000375050" "20" "75" "10" "55955462" "55955462" "subst" "0" "02416" "PCDH15_000164" "g.55955462A>G" "0/400 controls" "{PMID:Yang 2013:23767834}; USMA-{USMAPCDH15L429P:} USMA-{MSV3dQ96QU1p.Leu429Pro:}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.54195702A>G" "" "VUS" "ACMG" "0000375051" "0" "75" "10" "55600201" "55600201" "subst" "0" "02416" "PCDH15_000165" "g.55600201A>G" "0/400 controls" "{PMID:Yang 2013:23767834}; USMA-{USMAPCDH15S1288P:} USMA-{MSV3dQ96QU1p.Ser1288Pro:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.53840441A>G" "" "VUS" "ACMG" "0000375052" "0" "75" "10" "55591159" "55591159" "subst" "8.12183E-6" "02416" "PCDH15_000166" "g.55591159G>A" "0/400 controls" "{PMID:Yang 2013:23767834}; USMA-{USMAPCDH15T1373I:} USMA-{MSV3dQ96QU1T1373I:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.53831399G>A" "" "VUS" "ACMG" "0000375053" "0" "75" "10" "55591159" "55591159" "subst" "8.12183E-6" "02416" "PCDH15_000166" "g.55591159G>A" "0/400 controls" "{PMID:Yang 2013:23767834}; USMA-{USMAPCDH15T1373I:} USMA-{MSV3dQ96QU1T1373I:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.53831399G>A" "" "VUS" "ACMG" "0000375054" "0" "99" "10" "55944899" "55944899" "del" "0" "02416" "PCDH15_000167" "g.55944899del" "0/400 controls" "{PMID:Yang 2013:23767834}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.54185139del" "" "pathogenic" "" "0000375055" "2" "35" "10" "56077074" "56077074" "subst" "2.8449E-5" "02416" "PCDH15_000168" "g.56077074C>T" "0/192 controls" "{PMID:Mutai 2013:24164807}; USMA-{USMAPCDH15R278H:} USMA-{MSV3dO75445p.Arg278His:}" "" "NM_001142763.1:c.848G>A - p.(Arg283His)" "heterozygous; possible pathogenic" "Germline" "" "rs369442293" "0" "" "" "g.54317314C>T" "" "likely benign" "ACMG" "0000375056" "2" "35" "10" "56077074" "56077074" "subst" "2.8449E-5" "02416" "PCDH15_000168" "g.56077074C>T" "0/192 controls" "{PMID:Mutai 2013:24164807}; USMA-{USMAPCDH15R278H:} USMA-{MSV3dO75445p.Arg278His:}" "" "NM_001142763.1:c.848G>A - p.(Arg283His)" "heterozygous; possible pathogenic" "Germline" "" "rs369442293" "0" "" "" "g.54317314C>T" "" "likely benign" "ACMG" "0000375057" "2" "35" "10" "56077074" "56077074" "subst" "2.8449E-5" "02416" "PCDH15_000168" "g.56077074C>T" "0/192 controls" "{PMID:Mutai 2013:24164807}; USMA-{USMAPCDH15R278H:} USMA-{MSV3dO75445p.Arg278His:}" "" "NM_001142763.1:c.848G>A - p.(Arg283His)" "heterozygous; possible pathogenic" "Germline" "" "rs369442293" "0" "" "" "g.54317314C>T" "" "likely benign" "ACMG" "0000375058" "10" "99" "10" "55698611" "55698611" "subst" "0" "02416" "PCDH15_000169" "g.55698611C>A" "" "{PMID:Yoshimura 2014:24618850}" "" "" "homozygous; possible pathogenic" "Germline" "" "" "0" "" "" "g.53938851C>A" "" "pathogenic" "" "0000375059" "20" "99" "10" "55698611" "55698611" "subst" "0" "02416" "PCDH15_000169" "g.55698611C>A" "" "{PMID:Yoshimura 2014:24618850}" "" "" "homozygous; possible pathogenic" "Germline" "" "" "0" "" "" "g.53938851C>A" "" "pathogenic" "" "0000375060" "0" "35" "10" "55721637" "55721637" "subst" "0.000874866" "02416" "PCDH15_000170" "g.55721637G>A" "" "{PMID:Yoshimura 2014:24618850}; USMA-{USMAPCDH15R962C:} USMA-{MSV3dQ96QU1p.Arg962Cys:}" "" "" "heterozygous; possible pathogenic" "Germline" "" "rs201816080" "0" "" "" "g.53961877G>A" "" "likely benign" "ACMG" "0000375061" "0" "99" "10" "55973788" "55973788" "subst" "4.06362E-6" "02416" "PCDH15_000171" "g.55973788G>A" "" "{PMID:Yoshimura 2014:24618850}" "" "" "heterozygous; possible pathogenic" "Germline" "" "" "0" "" "" "g.54214028G>A" "" "pathogenic" "" "0000375062" "2" "99" "10" "55973788" "55973788" "subst" "4.06362E-6" "02428" "PCDH15_000171" "g.55973788G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.54214028G>A" "" "pathogenic" "" "0000375063" "0" "75" "10" "55617017" "55617017" "subst" "0.000366026" "02416" "PCDH15_000172" "g.55617017C>T" "" "{PMID:Yoshimura 2014:24618850}; USMA-{USMAPCDH15V1242M:} USMA-{MSV3dQ96QU1p.(Val1242Met:}" "" "" "heterozygous; possible pathogenic" "Germline" "" "rs201137087" "0" "" "" "g.53857257C>T" "" "VUS" "ACMG" "0000375064" "11" "99" "10" "56138703" "56138703" "subst" "0" "02416" "PCDH15_000173" "g.56138703C>T" "" "{PMID:Yoshimura 2014:24618850}" "" "" "heterozygous; possible pathogenic" "Germline" "" "" "0" "" "" "g.54378943C>T" "" "pathogenic" "" "0000375066" "3" "11" "10" "55568972" "55568972" "subst" "0.253026" "02416" "PCDH15_000174" "g.55568972T>G" "" "{PMID:Rong 2014:24831256}; USMA-{MSV3dA2A3E2p.Glu1618Ala:}" "" "" "non causative" "Germline" "" "rs11003863" "0" "" "" "g.53809212T>G" "" "benign" "" "0000375067" "10" "11" "10" "56345303" "56345303" "subst" "0" "02416" "PCDH15_000175" "g.56345303T>C" "" "{PMID:Rong 2014:24831256}" "" "chr10:g.56345303T>C-c.97A>G-p.S33G in ENST00000361849" "homozygous; non causative" "Germline" "" "rs4570492" "0" "" "" "g.54585543T>C" "" "benign" "" "0000375068" "20" "11" "10" "56345303" "56345303" "subst" "0" "02416" "PCDH15_000175" "g.56345303T>C" "" "{PMID:Rong 2014:24831256}" "" "chr10:g.56345303T>C-c.97A>G-p.S33G in ENST00000361849" "homozygous; non causative" "Germline" "" "rs4570492" "0" "" "" "g.54585543T>C" "" "benign" "" "0000375069" "0" "11" "10" "55913053" "55913053" "subst" "0.000142426" "02416" "PCDH15_000176" "g.55913053G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAPCDH15L531F:} USMA-{MSV3dQ96QU1p.Leu531Phe:}" "" "" "heterozygous; 1st nt exon 14; non causative" "Germline" "" "" "0" "" "" "g.54153293G>A" "" "likely benign" "ACMG" "0000375070" "10" "99" "10" "55719492" "55721652" "dup" "0" "02416" "PCDH15_000177" "g.55719492_55721652dup" "" "{PMID:Aparisi 2014:25404053}" "" "" "homozygous; UV4\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000375071" "20" "99" "10" "55719492" "55721652" "dup" "0" "02416" "PCDH15_000177" "g.55719492_55721652dup" "" "{PMID:Aparisi 2014:25404053}" "" "" "homozygous; UV4\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000375072" "10" "99" "10" "55626608" "55626608" "del" "0" "02416" "PCDH15_000178" "g.55626608del" "" "{PMID:Aparisi 2014:25404053}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53866848del" "" "pathogenic" "" "0000375073" "20" "99" "10" "55626608" "55626608" "del" "0" "02416" "PCDH15_000178" "g.55626608del" "" "{PMID:Aparisi 2014:25404053}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.53866848del" "" "pathogenic" "" "0000375074" "21" "15" "10" "55973766" "55973766" "subst" "0.000162558" "02416" "PCDH15_000179" "g.55973766C>T" "" "{PMID:Bujakowska 2014:25468891}; USMA-{USMAPCDH15R343K:} USMA-{MSV3dQ96QU1p.Arg343Lys:}" "" "" "heterozygous" "Germline" "" "rs141169746" "0" "" "" "g.54214006C>T" "" "likely benign" "ACMG" "0000375075" "21" "15" "10" "55973766" "55973766" "subst" "0.000162558" "02416" "PCDH15_000179" "g.55973766C>T" "" "{PMID:Bujakowska 2014:25468891}; USMA-{USMAPCDH15R343K:} USMA-{MSV3dQ96QU1p.Arg343Lys:}" "" "" "heterozygous" "Germline" "" "rs141169746" "0" "" "" "g.54214006C>T" "" "likely benign" "ACMG" "0000375076" "10" "99" "10" "55973731" "55973731" "del" "0" "02416" "PCDH15_000180" "g.55973731del" "" "{PMID:Lenarduzzi 2015:25575603}" "" "" "homozygous; UV3" "Germline" "" "" "0" "" "" "g.54213971del" "" "pathogenic" "" "0000375077" "20" "99" "10" "55973731" "55973731" "del" "0" "02416" "PCDH15_000180" "g.55973731del" "" "{PMID:Lenarduzzi 2015:25575603}" "" "" "homozygous; UV3" "Germline" "" "" "0" "" "" "g.54213971del" "" "pathogenic" "" "0000375078" "21" "99" "10" "55591074" "55591074" "subst" "0" "02416" "PCDH15_000181" "g.55591074C>A" "" "{PMID:Lenarduzzi 2015:25575603}" "" "IVS30+1G>T" "heterozygous; UV3" "Germline" "" "" "0" "" "" "g.53831314C>A" "" "pathogenic" "" "0000375079" "11" "99" "10" "55700628" "55700628" "dup" "0" "02416" "PCDH15_000182" "g.55700628dup" "" "{PMID:Lenarduzzi 2015:25575603}" "" "3229_3230insA" "heterozygous; UV3" "Germline" "" "" "0" "" "" "g.53940868dup" "" "pathogenic" "" "0000375080" "10" "75" "10" "55782816" "55782818" "del" "0" "02416" "PCDH15_000183" "g.55782816_55782818del" "" "{PMID:Zhan 2015:25930172}" "" "" "homozygous; pathogenic" "Germline" "" "" "0" "" "" "g.54023056_54023058del" "" "VUS" "ACMG" "0000375081" "10" "75" "10" "55782816" "55782818" "del" "0" "02416" "PCDH15_000183" "g.55782816_55782818del" "" "{PMID:Zhan 2015:25930172}" "" "" "homozygous; pathogenic" "Germline" "" "" "0" "" "" "g.54023056_54023058del" "" "VUS" "ACMG" "0000375082" "10" "75" "10" "55782816" "55782818" "del" "0" "02416" "PCDH15_000183" "g.55782816_55782818del" "" "{PMID:Zhan 2015:25930172}" "" "" "homozygous; pathogenic" "Germline" "" "" "0" "" "" "g.54023056_54023058del" "" "VUS" "ACMG" "0000375083" "10" "75" "10" "55782816" "55782818" "del" "0" "02416" "PCDH15_000183" "g.55782816_55782818del" "" "{PMID:Zhan 2015:25930172}" "" "" "homozygous; pathogenic" "Germline" "" "" "0" "" "" "g.54023056_54023058del" "" "VUS" "ACMG" "0000375084" "20" "75" "10" "55782816" "55782818" "del" "0" "02416" "PCDH15_000183" "g.55782816_55782818del" "" "{PMID:Zhan 2015:25930172}" "" "" "homozygous; pathogenic" "Germline" "" "" "0" "" "" "g.54023056_54023058del" "" "VUS" "ACMG" "0000375085" "20" "75" "10" "55782816" "55782818" "del" "0" "02416" "PCDH15_000183" "g.55782816_55782818del" "" "{PMID:Zhan 2015:25930172}" "" "" "homozygous; pathogenic" "Germline" "" "" "0" "" "" "g.54023056_54023058del" "" "VUS" "ACMG" "0000375086" "20" "75" "10" "55782816" "55782818" "del" "0" "02416" "PCDH15_000183" "g.55782816_55782818del" "" "{PMID:Zhan 2015:25930172}" "" "" "homozygous; pathogenic" "Germline" "" "" "0" "" "" "g.54023056_54023058del" "" "VUS" "ACMG" "0000375087" "20" "75" "10" "55782816" "55782818" "del" "0" "02416" "PCDH15_000183" "g.55782816_55782818del" "" "{PMID:Zhan 2015:25930172}" "" "" "homozygous; pathogenic" "Germline" "" "" "0" "" "" "g.54023056_54023058del" "" "VUS" "ACMG" "0000375088" "1" "99" "10" "55892686" "55892687" "ins" "0" "02416" "PCDH15_000184" "g.55892686_55892687insTA" "" "{PMID:Jiang 2015:26338283}" "" "NM_001142773.1:1799_1800insTA - p.S600fs" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.54132926_54132927insTA" "" "pathogenic" "" "0000375089" "2" "99" "10" "55721562" "55721562" "subst" "0" "02416" "PCDH15_000185" "g.55721562T>A" "" "{PMID:Jiang 2015:26338283}" "" "NM_001142773.1:A2893T - p.R965X" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.53961802T>A" "" "pathogenic" "" "0000375090" "1" "99" "10" "56287639" "56287639" "subst" "0" "02428" "PCDH15_000186" "g.56287639T>C" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.54527879T>C" "" "pathogenic" "" "0000375091" "1" "75" "10" "55591150" "55591150" "dup" "0" "02428" "PCDH15_000187" "g.55591150dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.53831390dup" "" "VUS" "ACMG" "0000375092" "2" "99" "10" "55955443" "55955649" "del" "0" "02428" "PCDH15_000188" "g.55955443_55955649del" "" "{PMID:Bonnet 2016:27460420}" "" "NM_001142769.1:1114-?_1320+?del" "heterozygous; mutation\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000375093" "1" "99" "10" "55849791" "55849791" "subst" "0" "02428" "PCDH15_000189" "g.55849791A>C" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.54090031A>C" "" "pathogenic" "" "0000375094" "10" "99" "10" "56423932" "56561051" "del" "0" "02428" "PCDH15_000190" "g.56423932_56561051del" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000375095" "1" "99" "10" "56423932" "56561051" "del" "0" "02428" "PCDH15_000190" "g.56423932_56561051del" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000375096" "2" "99" "10" "56423932" "56561051" "del" "0" "02428" "PCDH15_000190" "g.56423932_56561051del" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000375097" "20" "99" "10" "56423932" "56561051" "del" "0" "02428" "PCDH15_000190" "g.56423932_56561051del" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000375098" "2" "99" "10" "55568454" "55568454" "subst" "0.000185393" "02428" "PCDH15_000191" "g.55568454A>G" "" "{PMID:Bonnet 2016:27460420}" "" "p.(*1791Argext*5)" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.53808694A>G" "" "pathogenic" "" "0000375099" "0" "99" "10" "55826517" "55892767" "del" "0" "02428" "PCDH15_000192" "g.55826517_55892767del" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000375100" "10" "99" "10" "55939713" "56047942" "del" "0" "02428" "PCDH15_000193" "g.55939713_56047942del" "" "Abdi accepted in Plos One" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54179953_54288182del" "" "pathogenic" "" "0000375101" "20" "99" "10" "55939713" "56047942" "del" "0" "02428" "PCDH15_000193" "g.55939713_56047942del" "" "Abdi accepted in Plos One" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.54179953_54288182del" "" "pathogenic" "" "0000375102" "1" "99" "10" "55600162" "55600162" "subst" "0" "02430" "PCDH15_000194" "g.55600162C>A" "" "{PMID:Ivanova 2018:30358468}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000375103" "2" "90" "10" "56138541" "56138703" "del" "0" "02430" "PCDH15_000195" "g.(56129036_56138541)_(56138703_56287571)del" "" "{PMID:Ivanova 2018:30358468}" "" "158-?_318+?del" "" "Germline" "" "" "0" "" "" "g.(54369276_54378781)_(54378943_54527811)del" "" "pathogenic (recessive)" "" "0000458829" "3" "50" "10" "55955567" "55955567" "subst" "0.000446737" "00006" "PCDH15_000303" "g.55955567T>C" "" "{DOI:Reynhout 2019:10.1016/j.ajhg.2019.01.009}" "" "" "" "Germline" "" "" "0" "" "" "g.54195807T>C" "" "VUS" "" "0000540034" "0" "30" "10" "55566546" "55566546" "subst" "4.06997E-6" "01943" "PCDH15_000305" "g.55566546T>C" "" "" "" "PCDH15(NM_001142771.1):c.4842A>G (p.T1614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53806786T>C" "" "likely benign" "" "0000540035" "0" "50" "10" "55566587" "55566587" "dup" "0" "02330" "PCDH15_000306" "g.55566587dup" "" "" "" "PCDH15(NM_001142771.1):c.4804dupT (p.S1602Ffs*3), PCDH15(NM_001142771.2):c.4804dupT (p.S1602Ffs*3), PCDH15(NM_001354429.1):c.4912dupT (p.S1638Ffs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53806827dup" "" "VUS" "" "0000540036" "0" "70" "10" "55566587" "55566587" "dup" "0" "01943" "PCDH15_000306" "g.55566587dup" "" "" "" "PCDH15(NM_001142771.1):c.4804dupT (p.S1602Ffs*3), PCDH15(NM_001142771.2):c.4804dupT (p.S1602Ffs*3), PCDH15(NM_001354429.1):c.4912dupT (p.S1638Ffs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53806827dup" "" "likely pathogenic" "" "0000540037" "0" "50" "10" "55568468" "55568468" "subst" "0" "02330" "PCDH15_000309" "g.55568468T>C" "" "" "" "PCDH15(NM_001142769.3):c.5357A>G (p.Y1786C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53808708T>C" "" "VUS" "" "0000540038" "0" "10" "10" "55568878" "55568878" "subst" "0.00102702" "01943" "PCDH15_000297" "g.55568878T>G" "" "" "" "PCDH15(NM_001142769.2):c.4947A>C (p.E1649D), PCDH15(NM_001142769.3):c.4947A>C (p.E1649D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53809118T>G" "" "benign" "" "0000540039" "0" "50" "10" "55568961" "55568961" "subst" "9.76745E-5" "01943" "PCDH15_000310" "g.55568961T>C" "" "" "" "PCDH15(NM_001142769.2):c.4864A>G (p.S1622G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53809201T>C" "" "VUS" "" "0000540040" "0" "30" "10" "55568971" "55568971" "subst" "0.0018679" "02330" "PCDH15_000311" "g.55568971C>G" "" "" "" "PCDH15(NM_001142769.2):c.4854G>C (p.E1618D), PCDH15(NM_001142769.3):c.4854G>C (p.E1618D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53809211C>G" "" "likely benign" "" "0000540041" "0" "30" "10" "55568971" "55568971" "subst" "0.0018679" "01943" "PCDH15_000311" "g.55568971C>G" "" "" "" "PCDH15(NM_001142769.2):c.4854G>C (p.E1618D), PCDH15(NM_001142769.3):c.4854G>C (p.E1618D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53809211C>G" "" "likely benign" "" "0000540042" "0" "10" "10" "55568972" "55568972" "subst" "0.253026" "02325" "PCDH15_000174" "g.55568972T>G" "" "" "" "PCDH15(NM_001142769.3):c.4853A>C (p.E1618A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53809212T>G" "" "benign" "" "0000540043" "0" "50" "10" "55569092" "55569118" "del" "0" "01943" "PCDH15_000312" "g.55569092_55569118del" "" "" "" "PCDH15(NM_001142769.2):c.4715_4741delGTGAAGAGTGGCAGAGACGCCTTGAGG (p.G1572_E1580del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53809332_53809358del" "" "VUS" "" "0000540045" "0" "50" "10" "55570398" "55570398" "subst" "0.00013423" "01943" "PCDH15_000314" "g.55570398C>T" "" "" "" "PCDH15(NM_001142771.1):c.4415G>A (p.R1472H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53810638C>T" "" "VUS" "" "0000540046" "0" "30" "10" "55581731" "55581731" "subst" "1.21912E-5" "01943" "PCDH15_000315" "g.55581731A>T" "" "" "" "PCDH15(NM_001142763.1):c.5776T>A (p.C1926S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53821971A>T" "" "likely benign" "" "0000540047" "0" "10" "10" "55581883" "55581883" "subst" "0.000962773" "02330" "PCDH15_000316" "g.55581883G>A" "" "" "" "PCDH15(NM_001142763.1):c.5624C>T (p.T1875M), PCDH15(NM_001142763.2):c.5624C>T (p.T1875M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822123G>A" "" "benign" "" "0000540048" "0" "30" "10" "55581883" "55581883" "subst" "0.000962773" "01943" "PCDH15_000316" "g.55581883G>A" "" "" "" "PCDH15(NM_001142763.1):c.5624C>T (p.T1875M), PCDH15(NM_001142763.2):c.5624C>T (p.T1875M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822123G>A" "" "likely benign" "" "0000540049" "0" "10" "10" "55581887" "55581889" "del" "0" "02330" "PCDH15_000317" "g.55581887_55581889del" "" "" "" "PCDH15(NM_001142763.2):c.5622_5624delAAC (p.T1876del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822127_53822129del" "" "benign" "" "0000540050" "0" "50" "10" "55581912" "55581915" "dup" "0" "02330" "PCDH15_000318" "g.55581912_55581915dup" "" "" "" "PCDH15(NM_001142763.2):c.5594_5597dupTTAA (p.K1866Nfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822152_53822155dup" "" "VUS" "" "0000540051" "0" "10" "10" "55581936" "55581936" "subst" "0.00103589" "01943" "PCDH15_000148" "g.55581936G>T" "" "" "" "PCDH15(NM_001142763.1):c.5571C>A (p.T1857=), PCDH15(NM_033056.4):c.5550C>A (p.T1850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822176G>T" "" "benign" "" "0000540052" "0" "30" "10" "55582047" "55582047" "subst" "0.000255985" "01943" "PCDH15_000319" "g.55582047T>G" "" "" "" "PCDH15(NM_001142763.1):c.5460A>C (p.P1820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822287T>G" "" "likely benign" "" "0000540054" "0" "50" "10" "55582183" "55582191" "dup" "0" "01943" "PCDH15_000215" "g.55582183_55582191dup" "" "" "" "PCDH15(NM_001142763.1):c.5317_5325dupGCTCCTCCT (p.A1773_P1775dup), PCDH15(NM_001142763.1):c.5325_5326insGCTCCTCCT (p.(Ala1773_Pro1775dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822423_53822431dup" "" "VUS" "" "0000540055" "0" "50" "10" "55582192" "55582200" "del" "0" "01943" "PCDH15_000321" "g.55582192_55582200del" "" "" "" "PCDH15(NM_001142763.1):c.5315_5323delTTGCTCCTC (p.L1772_P1774del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822432_53822440del" "" "VUS" "" "0000540056" "0" "10" "10" "55582205" "55582210" "del" "0" "02330" "PCDH15_000216" "g.55582205_55582210del" "" "" "" "PCDH15(NM_001142763.1):c.5308_5313delGCTCCT (p.A1770_P1771del), PCDH15(NM_001142763.2):c.5308_5313delGCTCCT (p.A1770_P1771del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822445_53822450del" "" "benign" "" "0000540057" "0" "30" "10" "55582205" "55582213" "del" "0" "02330" "PCDH15_000322" "g.55582205_55582213del" "" "" "" "PCDH15(NM_001142763.1):c.5299_5307delCCTGCTCCT (p.P1767_P1769del), PCDH15(NM_001142763.2):c.5299_5307delCCTGCTCCT (p.P1767_P1769del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822445_53822453del" "" "likely benign" "" "0000540058" "0" "50" "10" "55582217" "55582237" "del" "0" "01943" "PCDH15_000323" "g.55582217_55582237del" "" "" "" "PCDH15(NM_001142763.1):c.5278_5298delATTTCTCCTCCTTCTCCTCCT (p.I1760_P1766del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822457_53822477del" "" "VUS" "" "0000540059" "0" "10" "10" "55582512" "55582512" "subst" "0.000259981" "02330" "PCDH15_000118" "g.55582512T>G" "" "" "" "PCDH15(NM_001142763.1):c.4995A>C (p.S1665=), PCDH15(NM_001142763.2):c.4995A>C (p.S1665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822752T>G" "" "benign" "" "0000540060" "0" "30" "10" "55582512" "55582512" "subst" "0.000259981" "01943" "PCDH15_000118" "g.55582512T>G" "" "" "" "PCDH15(NM_001142763.1):c.4995A>C (p.S1665=), PCDH15(NM_001142763.2):c.4995A>C (p.S1665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822752T>G" "" "likely benign" "" "0000540061" "0" "30" "10" "55582547" "55582547" "subst" "0" "01943" "PCDH15_000324" "g.55582547T>C" "" "" "" "PCDH15(NM_001142763.1):c.4960A>G (p.I1654V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822787T>C" "" "likely benign" "" "0000540062" "0" "30" "10" "55582594" "55582594" "subst" "9.34086E-5" "02330" "PCDH15_000222" "g.55582594G>T" "" "" "" "PCDH15(NM_001142763.1):c.4913C>A (p.A1638E), PCDH15(NM_001142763.2):c.4913C>A (p.A1638E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822834G>T" "" "likely benign" "" "0000540063" "0" "10" "10" "55582653" "55582656" "dup" "0" "02330" "PCDH15_000325" "g.55582653_55582656dup" "" "" "" "PCDH15(NM_001142763.2):c.4852_4855dupAACA (p.T1619Kfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822893_53822896dup" "" "benign" "" "0000540064" "0" "30" "10" "55582676" "55582676" "subst" "7.31309E-5" "01943" "PCDH15_000326" "g.55582676T>C" "" "" "" "PCDH15(NM_001142763.1):c.4831A>G (p.R1611G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822916T>C" "" "likely benign" "" "0000540065" "0" "50" "10" "55582711" "55582711" "subst" "0" "01943" "PCDH15_000327" "g.55582711G>T" "" "" "" "PCDH15(NM_001142763.1):c.4796C>A (p.P1599Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822951G>T" "" "VUS" "" "0000540066" "0" "30" "10" "55582712" "55582712" "subst" "4.46929E-5" "02330" "PCDH15_000328" "g.55582712G>A" "" "" "" "PCDH15(NM_001142763.2):c.4795C>T (p.P1599S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822952G>A" "" "likely benign" "" "0000540067" "0" "30" "10" "55582894" "55582894" "subst" "4.0656E-6" "01943" "PCDH15_000329" "g.55582894T>C" "" "" "" "PCDH15(NM_001142763.1):c.4613A>G (p.E1538G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53823134T>C" "" "likely benign" "" "0000540068" "0" "50" "10" "55583066" "55583076" "del" "2.03252E-5" "02327" "PCDH15_000330" "g.55583066_55583076del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53823306_53823316del" "" "VUS" "" "0000540069" "0" "30" "10" "55587212" "55587214" "dup" "0" "02330" "PCDH15_000254" "g.55587212_55587214dup" "" "" "" "PCDH15(NM_001142771.2):c.4335_4337dupGCC (p.P1448dup), PCDH15(NM_001354429.1):c.4320_4322dupGCC (p.P1443dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53827452_53827454dup" "" "likely benign" "" "0000540070" "0" "70" "10" "55588323" "55588323" "subst" "4.06646E-5" "02327" "PCDH15_000331" "g.55588323A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53828563A>C" "" "likely pathogenic" "" "0000540071" "0" "10" "10" "55591253" "55591253" "subst" "0.00173817" "01943" "PCDH15_000067" "g.55591253G>T" "" "" "" "PCDH15(NM_001142763.1):c.4039C>A (p.(Gln1347Lys)), PCDH15(NM_001142771.1):c.4039C>A (p.Q1347K), PCDH15(NM_001142771.2):c.4039C>A (p.Q1347K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53831493G>T" "" "benign" "" "0000540072" "0" "10" "10" "55600068" "55600068" "subst" "0.00502408" "02330" "PCDH15_000112" "g.55600068A>G" "" "" "" "PCDH15(NM_001142771.2):c.3998+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53840308A>G" "" "benign" "" "0000540073" "0" "50" "10" "55600152" "55600152" "subst" "4.06144E-6" "01943" "PCDH15_000332" "g.55600152G>C" "" "" "" "PCDH15(NM_001142771.1):c.3926C>G (p.T1309S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53840392G>C" "" "VUS" "" "0000540074" "0" "50" "10" "55600246" "55600246" "subst" "0.000613412" "02330" "PCDH15_000043" "g.55600246G>T" "" "" "" "PCDH15(NM_001142771.1):c.3832C>A (p.R1278S), PCDH15(NM_001142771.2):c.3832C>A (p.R1278S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53840486G>T" "" "VUS" "" "0000540075" "0" "70" "10" "55600246" "55600246" "subst" "0.000613412" "01943" "PCDH15_000043" "g.55600246G>T" "" "" "" "PCDH15(NM_001142771.1):c.3832C>A (p.R1278S), PCDH15(NM_001142771.2):c.3832C>A (p.R1278S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53840486G>T" "" "likely pathogenic" "" "0000540076" "0" "30" "10" "55600262" "55600262" "subst" "6.0984E-5" "02330" "PCDH15_000333" "g.55600262A>C" "" "" "" "PCDH15(NM_001142771.2):c.3822-6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53840502A>C" "" "likely benign" "" "0000540078" "0" "10" "10" "55626587" "55626587" "subst" "0.00191519" "02330" "PCDH15_000335" "g.55626587C>T" "" "" "" "PCDH15(NM_001142771.1):c.3547G>A (p.V1183I), PCDH15(NM_001142771.2):c.3547G>A (p.V1183I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53866827C>T" "" "benign" "" "0000540079" "0" "10" "10" "55626587" "55626587" "subst" "0.00191519" "01943" "PCDH15_000335" "g.55626587C>T" "" "" "" "PCDH15(NM_001142771.1):c.3547G>A (p.V1183I), PCDH15(NM_001142771.2):c.3547G>A (p.V1183I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53866827C>T" "" "benign" "" "0000540080" "0" "10" "10" "55626630" "55626630" "dup" "0" "02330" "PCDH15_000336" "g.55626630dup" "" "" "" "PCDH15(NM_001142771.2):c.3517-10dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53866870dup" "" "benign" "" "0000540081" "0" "10" "10" "55626639" "55626639" "del" "0" "02330" "PCDH15_000337" "g.55626639del" "" "" "" "PCDH15(NM_001142771.2):c.3517-14delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53866879del" "" "benign" "" "0000540082" "0" "10" "10" "55698563" "55698563" "subst" "0" "02330" "PCDH15_000338" "g.55698563A>C" "" "" "" "PCDH15(NM_001142771.2):c.3388+12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53938803A>C" "" "benign" "" "0000540083" "0" "30" "10" "55698624" "55698624" "subst" "1.22E-5" "01943" "PCDH15_000339" "g.55698624T>C" "" "" "" "PCDH15(NM_001142771.1):c.3339A>G (p.Q1113=), PCDH15(NM_001354429.2):c.3324A>G (p.Q1108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53938864T>C" "" "likely benign" "" "0000540084" "0" "30" "10" "55700623" "55700623" "subst" "4.06904E-6" "01943" "PCDH15_000340" "g.55700623C>A" "" "" "" "PCDH15(NM_001142771.1):c.3247+3G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53940863C>A" "" "likely benign" "" "0000540085" "0" "50" "10" "55721531" "55721531" "subst" "0.000253815" "01943" "PCDH15_000341" "g.55721531T>C" "" "" "" "PCDH15(NM_001142771.1):c.3005A>G (p.E1002G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53961771T>C" "" "VUS" "" "0000540087" "0" "10" "10" "55721636" "55721636" "subst" "0.00271354" "02330" "PCDH15_000343" "g.55721636C>A" "" "" "" "PCDH15(NM_001142771.1):c.2900G>T (p.R967L), PCDH15(NM_001142771.2):c.2900G>T (p.R967L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53961876C>A" "" "benign" "" "0000540088" "0" "30" "10" "55721636" "55721636" "subst" "0.00271354" "01943" "PCDH15_000343" "g.55721636C>A" "" "" "" "PCDH15(NM_001142771.1):c.2900G>T (p.R967L), PCDH15(NM_001142771.2):c.2900G>T (p.R967L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53961876C>A" "" "likely benign" "" "0000540089" "0" "30" "10" "55779943" "55779943" "subst" "0.000261314" "02330" "PCDH15_000344" "g.55779943A>G" "" "" "" "PCDH15(NM_001142771.1):c.2766+9T>C, PCDH15(NM_001142771.2):c.2766+9T>C, PCDH15(NM_001384140.1):c.2751+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54020183A>G" "" "likely benign" "" "0000540090" "0" "30" "10" "55779943" "55779943" "subst" "0.000261314" "01943" "PCDH15_000344" "g.55779943A>G" "" "" "" "PCDH15(NM_001142771.1):c.2766+9T>C, PCDH15(NM_001142771.2):c.2766+9T>C, PCDH15(NM_001384140.1):c.2751+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54020183A>G" "" "likely benign" "" "0000540091" "0" "50" "10" "55780122" "55780122" "subst" "0.000674572" "02330" "PCDH15_000345" "g.55780122C>T" "" "" "" "PCDH15(NM_001142771.2):c.2596G>A (p.V866M), PCDH15(NM_001354429.1):c.2581G>A (p.V861M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54020362C>T" "" "VUS" "" "0000540092" "0" "50" "10" "55780122" "55780122" "subst" "0.000674572" "01943" "PCDH15_000345" "g.55780122C>T" "" "" "" "PCDH15(NM_001142771.2):c.2596G>A (p.V866M), PCDH15(NM_001354429.1):c.2581G>A (p.V861M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54020362C>T" "" "VUS" "" "0000540093" "0" "50" "10" "55780140" "55780140" "subst" "0.000406402" "01943" "PCDH15_000346" "g.55780140G>A" "" "" "" "PCDH15(NM_001142771.1):c.2578C>T (p.R860W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54020380G>A" "" "VUS" "" "0000540094" "0" "50" "10" "55782732" "55782732" "subst" "0" "02325" "PCDH15_000347" "g.55782732T>C" "" "" "" "PCDH15(NM_001354429.2):c.2446A>G (p.S816G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54022972T>C" "" "VUS" "" "0000540095" "0" "50" "10" "55782792" "55782792" "subst" "5.28335E-5" "01943" "PCDH15_000348" "g.55782792C>T" "" "" "" "PCDH15(NM_001142771.1):c.2401G>A (p.V801I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54023032C>T" "" "VUS" "" "0000540096" "0" "30" "10" "55782853" "55782853" "subst" "3.25521E-5" "01943" "PCDH15_000349" "g.55782853C>T" "" "" "" "PCDH15(NM_001142771.1):c.2340G>A (p.V780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54023093C>T" "" "likely benign" "" "0000540097" "0" "50" "10" "55826523" "55826523" "subst" "5.29079E-5" "01943" "PCDH15_000350" "g.55826523T>G" "" "" "" "PCDH15(NM_001142771.1):c.2229A>C (p.Q743H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54066763T>G" "" "VUS" "" "0000540098" "0" "50" "10" "55826543" "55826543" "subst" "6.91512E-5" "02330" "PCDH15_000351" "g.55826543C>T" "" "" "" "PCDH15(NM_001142771.2):c.2209G>A (p.A737T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54066783C>T" "" "VUS" "" "0000540099" "0" "30" "10" "55839184" "55839184" "subst" "1.21845E-5" "02330" "PCDH15_000352" "g.55839184G>A" "" "" "" "PCDH15(NM_001142771.2):c.2013C>T (p.T671=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54079424G>A" "" "likely benign" "" "0000540100" "0" "10" "10" "55839205" "55839208" "del" "0" "02330" "PCDH15_000353" "g.55839205_55839208del" "" "" "" "PCDH15(NM_001142771.2):c.2013-13_2013-10delGTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54079445_54079448del" "" "benign" "" "0000540101" "0" "10" "10" "55892622" "55892623" "dup" "0" "02330" "PCDH15_000354" "g.55892622_55892623dup" "" "" "" "PCDH15(NM_001142771.2):c.1932+12_1932+13dupGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54132862_54132863dup" "" "benign" "" "0000540102" "0" "30" "10" "55892652" "55892652" "subst" "0.000599481" "02330" "PCDH15_000355" "g.55892652C>T" "" "" "" "PCDH15(NM_001142771.1):c.1915G>A (p.V639I), PCDH15(NM_001142771.2):c.1915G>A (p.V639I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54132892C>T" "" "likely benign" "" "0000540103" "0" "50" "10" "55892652" "55892652" "subst" "0.000599481" "01943" "PCDH15_000355" "g.55892652C>T" "" "" "" "PCDH15(NM_001142771.1):c.1915G>A (p.V639I), PCDH15(NM_001142771.2):c.1915G>A (p.V639I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54132892C>T" "" "VUS" "" "0000540104" "0" "50" "10" "55892726" "55892726" "subst" "0" "01943" "PCDH15_000356" "g.55892726T>C" "" "" "" "PCDH15(NM_001142771.1):c.1841A>G (p.N614S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54132966T>C" "" "VUS" "" "0000540105" "0" "30" "10" "55912991" "55912991" "subst" "0.00014635" "01943" "PCDH15_000357" "g.55912991C>T" "" "" "" "PCDH15(NM_001142771.1):c.1668G>A (p.G556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54153231C>T" "" "likely benign" "" "0000540106" "0" "50" "10" "55943300" "55943300" "subst" "0.000125935" "02330" "PCDH15_000358" "g.55943300T>C" "" "" "" "PCDH15(NM_001142771.2):c.1509A>G (p.Q503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54183540T>C" "" "VUS" "" "0000540107" "0" "30" "10" "55944887" "55944887" "subst" "6.50581E-5" "01943" "PCDH15_000359" "g.55944887T>G" "" "" "" "PCDH15(NM_001142771.1):c.1455+7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54185127T>G" "" "likely benign" "" "0000540108" "0" "10" "10" "55944972" "55944972" "subst" "0.000706955" "02330" "PCDH15_000241" "g.55944972G>A" "" "" "" "PCDH15(NM_001142771.2):c.1377C>T (p.V459=), PCDH15(NM_001354429.1):c.1362C>T (p.V454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54185212G>A" "" "benign" "" "0000540109" "0" "10" "10" "55945041" "55945041" "dup" "0" "02330" "PCDH15_000360" "g.55945041dup" "" "" "" "PCDH15(NM_001142771.2):c.1321-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54185281dup" "" "benign" "" "0000540110" "0" "50" "10" "55955466" "55955466" "subst" "0" "01943" "PCDH15_000361" "g.55955466C>G" "" "" "" "PCDH15(NM_001142771.1):c.1297G>C (p.A433P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54195706C>G" "" "VUS" "" "0000540111" "0" "90" "10" "55955539" "55955539" "subst" "4.06128E-6" "02327" "PCDH15_000362" "g.55955539A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54195779A>C" "" "pathogenic" "" "0000540112" "0" "10" "10" "56077209" "56077209" "subst" "0.657115" "02325" "PCDH15_000020" "g.56077209G>A" "" "" "" "PCDH15(NM_001142771.2):c.721-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54317449G>A" "" "benign" "" "0000540113" "0" "50" "10" "56106156" "56106156" "subst" "0" "02330" "PCDH15_000363" "g.56106156T>G" "" "" "" "PCDH15(NM_001142771.2):c.578A>C (p.E193A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54346396T>G" "" "VUS" "" "0000540114" "0" "50" "10" "56128896" "56128896" "subst" "1.22188E-5" "01943" "PCDH15_000364" "g.56128896T>C" "" "" "" "PCDH15(NM_001142771.1):c.473A>G (p.Y158C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54369136T>C" "" "VUS" "" "0000540115" "0" "10" "10" "56423968" "56423968" "subst" "0.219841" "02327" "PCDH15_000004" "g.56423968A>C" "" "" "" "PCDH15(NM_001142771.2):c.55T>G (p.S19A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54664208A>C" "" "benign" "" "0000540116" "0" "10" "10" "56424027" "56424027" "subst" "0.00134711" "02330" "PCDH15_000365" "g.56424027T>C" "" "" "" "PCDH15(NM_001142771.2):c.-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54664267T>C" "" "benign" "" "0000600841" "21" "99" "10" "55640819" "55829214" "delins" "0" "00110" "PCDH15_000366" "g.55640819_55829214delinsGTG" "" "{PMID:Vaché 2020:32714370}, {DOI:Vaché 2020:10.3389/fgene.2020.00623}" "" "" "" "Germline" "yes" "" "0" "" "" "g.53881059_54069454delinsGTG" "" "pathogenic" "ACMG" "0000600842" "11" "11" "10" "56423968" "56423968" "subst" "0.219841" "00110" "PCDH15_000004" "g.56423968A>C" "" "{PMID:Vaché 2020:32714370}, {DOI:Vaché 2020:10.3389/fgene.2020.00623}" "" "" "" "Germline" "" "" "0" "" "" "g.54664208A>C" "" "benign" "ACMG" "0000600843" "11" "99" "10" "55930707" "55930922" "" "0" "00110" "BICC1_000014" "g.[(55930526_55930707)_(55930922_55930971)del;(55930922_55930971)_(60622315_60622496)inv;(60622051_60622100)_(60622315_60622496)dup]" "" "{PMID:Vaché 2020:32714370}, {DOI:Vaché 2020:10.3389/fgene.2020.00623}" "" "" "SV consisting in the inversion of 4.6Mb in chr10. The breakpoints are located between exons 13 and 14 of PCDH15 on one end and between BICC1 and LINC00844 on the other end." "Germline" "yes" "" "0" "" "" "g.[(54170766_54170947)_(54171162_54171211)del;(54171162_54171211)_(58862555_58862736)inv;(58862291_58862340)_(58862555_58862736)dup]" "" "pathogenic" "" "0000602994" "3" "90" "10" "55826546" "55826546" "subst" "0" "01807" "PCDH15_000367" "g.55826546C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.54066786C>A" "" "pathogenic" "" "0000612500" "0" "50" "10" "55566587" "55566587" "dup" "0" "02327" "PCDH15_000306" "g.55566587dup" "" "" "" "PCDH15(NM_001142771.1):c.4804dupT (p.S1602Ffs*3), PCDH15(NM_001142771.2):c.4804dupT (p.S1602Ffs*3), PCDH15(NM_001354429.1):c.4912dupT (p.S1638Ffs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53806827dup" "" "VUS" "" "0000612501" "0" "30" "10" "55566671" "55566671" "subst" "0.000810247" "01943" "PCDH15_000307" "g.55566671G>A" "" "" "" "PCDH15(NM_001142771.1):c.4717C>T (p.L1573=), PCDH15(NM_001142771.2):c.4717C>T (p.L1573=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53806911G>A" "" "likely benign" "" "0000612502" "0" "50" "10" "55582135" "55582135" "subst" "5.68201E-6" "01943" "PCDH15_000368" "g.55582135G>T" "" "" "" "PCDH15(NM_001142763.1):c.5372C>A (p.P1791H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822375G>T" "" "VUS" "" "0000612503" "0" "30" "10" "55582280" "55582280" "subst" "2.46324E-5" "01943" "PCDH15_000369" "g.55582280G>A" "" "" "" "PCDH15(NM_001142763.1):c.5227C>T (p.H1743Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822520G>A" "" "likely benign" "" "0000612504" "0" "50" "10" "55582413" "55582413" "subst" "0" "01943" "PCDH15_000370" "g.55582413A>C" "" "" "" "PCDH15(NM_001142763.1):c.5094T>G (p.S1698R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822653A>C" "" "VUS" "" "0000612505" "0" "50" "10" "55616987" "55616987" "subst" "4.06544E-6" "01943" "PCDH15_000372" "g.55616987C>G" "" "" "" "PCDH15(NM_001142771.1):c.3769G>C (p.V1257L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53857227C>G" "" "VUS" "" "0000612506" "0" "50" "10" "55617026" "55617026" "subst" "2.84768E-5" "02330" "PCDH15_000373" "g.55617026G>C" "" "" "" "PCDH15(NM_001142771.2):c.3733-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53857266G>C" "" "VUS" "" "0000612507" "0" "50" "10" "55626564" "55626564" "subst" "0.000134131" "01943" "PCDH15_000374" "g.55626564T>C" "" "" "" "PCDH15(NM_001142771.1):c.3570A>G (p.I1190M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53866804T>C" "" "VUS" "" "0000612508" "0" "30" "10" "55700675" "55700675" "subst" "0" "01943" "PCDH15_000376" "g.55700675A>T" "" "" "" "PCDH15(NM_001142771.1):c.3198T>A (p.A1066=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53940915A>T" "" "likely benign" "" "0000612509" "0" "50" "10" "55892753" "55892753" "subst" "4.06329E-6" "01943" "PCDH15_000378" "g.55892753G>C" "" "" "" "PCDH15(NM_001354429.1):c.1799C>G (p.T600S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54132993G>C" "" "VUS" "" "0000612510" "0" "90" "10" "56424016" "56424016" "subst" "2.0555E-5" "02327" "PCDH15_000053" "g.56424016G>A" "" "" "" "PCDH15(NM_001354429.1):c.7C>T (p.R3*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54664256G>A" "" "pathogenic" "" "0000622389" "0" "50" "10" "55587212" "55587214" "dup" "0" "01943" "PCDH15_000254" "g.55587212_55587214dup" "" "" "" "PCDH15(NM_001142771.2):c.4335_4337dupGCC (p.P1448dup), PCDH15(NM_001354429.1):c.4320_4322dupGCC (p.P1443dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53827452_53827454dup" "" "VUS" "" "0000622390" "0" "50" "10" "55591145" "55591145" "subst" "0" "01943" "PCDH15_000371" "g.55591145A>T" "" "" "" "PCDH15(NM_001354429.1):c.4132T>A (p.L1378M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53831385A>T" "" "VUS" "" "0000622391" "0" "50" "10" "55700664" "55700664" "subst" "0" "01943" "PCDH15_000375" "g.55700664T>C" "" "" "" "PCDH15(NM_001354429.1):c.3194A>G (p.Q1065R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53940904T>C" "" "VUS" "" "0000622392" "0" "90" "10" "55719606" "55719607" "del" "0" "01943" "PCDH15_000377" "g.55719606_55719607del" "" "" "" "PCDH15(NM_001354429.1):c.3010-3_3010-2delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53959846_53959847del" "" "pathogenic" "" "0000647916" "1" "10" "10" "55566438" "55566438" "subst" "0.0191766" "03575" "PCDH15_000379" "g.55566438C>T" "25/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "25 heterozygous, no homozygous; {DB:CLININrs74609306}" "Germline" "" "rs74609306" "0" "" "" "g.53806678C>T" "" "benign" "" "0000647917" "1" "10" "10" "55570347" "55570347" "subst" "0.00773693" "03575" "PCDH15_000380" "g.55570347C>T" "3/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs41274622}" "Germline" "" "rs41274622" "0" "" "" "g.53810587C>T" "" "benign" "" "0000647918" "1" "30" "10" "55663053" "55663053" "subst" "0.00126144" "03575" "PCDH15_000381" "g.55663053C>T" "18/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs149478475}" "Germline" "" "rs149478475" "0" "" "" "g.53903293C>T" "" "likely benign" "" "0000647919" "1" "50" "10" "55721637" "55721637" "subst" "0.000874866" "03575" "PCDH15_000170" "g.55721637G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs201816080}" "Germline" "" "rs201816080" "0" "" "" "g.53961877G>A" "" "VUS" "" "0000647920" "1" "50" "10" "55755509" "55755509" "subst" "0.000171255" "03575" "PCDH15_000382" "g.55755509G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs191577774}" "Germline" "" "rs191577774" "0" "" "" "g.53995749G>A" "" "VUS" "" "0000647921" "1" "50" "10" "55780122" "55780122" "subst" "0.000674572" "03575" "PCDH15_000345" "g.55780122C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs142512524}" "Germline" "" "rs142512524" "0" "" "" "g.54020362C>T" "" "VUS" "" "0000647922" "1" "50" "10" "55780140" "55780140" "subst" "0.000406402" "03575" "PCDH15_000346" "g.55780140G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs138010738}" "Germline" "" "rs138010738" "0" "" "" "g.54020380G>A" "" "VUS" "" "0000647923" "1" "50" "10" "55892642" "55892642" "subst" "0.0276228" "03575" "PCDH15_000007" "g.55892642T>C" "216/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 216 heterozygous; {DB:CLININrs61731389}" "Germline" "" "rs61731389" "0" "" "" "g.54132882T>C" "" "VUS" "" "0000647924" "1" "50" "10" "56106173" "56106173" "subst" "0.013703" "03575" "PCDH15_000383" "g.56106173T>C" "13/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 13 heterozygous, no homozygous; {DB:CLININrs34164469}" "Germline" "" "rs34164469" "0" "" "" "g.54346413T>C" "" "VUS" "" "0000656499" "0" "30" "10" "55569013" "55569013" "subst" "0" "01943" "PCDH15_000384" "g.55569013C>T" "" "" "" "PCDH15(NM_001142769.2):c.4812G>A (p.E1604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53809253C>T" "" "likely benign" "" "0000656500" "0" "10" "10" "55581936" "55581936" "subst" "0.00103589" "02330" "PCDH15_000148" "g.55581936G>T" "" "" "" "PCDH15(NM_001142763.1):c.5571C>A (p.T1857=), PCDH15(NM_033056.4):c.5550C>A (p.T1850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53822176G>T" "" "benign" "" "0000656501" "0" "30" "10" "55780079" "55780079" "subst" "3.65827E-5" "01943" "PCDH15_000385" "g.55780079G>A" "" "" "" "PCDH15(NM_001354429.1):c.2624C>T (p.S875L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54020319G>A" "" "likely benign" "" "0000656502" "0" "30" "10" "56077173" "56077173" "subst" "0.000130139" "01943" "PCDH15_000386" "g.56077173C>T" "" "" "" "PCDH15(NM_001354429.1):c.734G>A (p.R245Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54317413C>T" "" "likely benign" "" "0000669065" "3" "50" "10" "55892642" "55892642" "subst" "0.0276228" "03575" "PCDH15_000007" "g.55892642T>C" "7/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 7 homozygous; {DB:CLININrs61731389}" "Germline" "" "rs61731389" "0" "" "" "g.54132882T>C" "" "VUS" "" "0000678848" "0" "50" "10" "55582797" "55582842" "dup" "0" "02330" "PCDH15_000387" "g.55582797_55582842dup" "" "" "" "PCDH15(NM_033056.4):c.4644_4689dup (p.R1564Cfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678849" "0" "50" "10" "55755464" "55755464" "subst" "0" "01943" "PCDH15_000388" "g.55755464T>C" "" "" "" "PCDH15(NM_001354429.1):c.2813A>G (p.D938G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000684546" "1" "70" "10" "56128954" "56128954" "subst" "0" "00004" "PCDH15_000058" "g.56128954G>C" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.54369194G>C" "" "likely pathogenic" "" "0000684778" "0" "30" "10" "55582674" "55582674" "subst" "0.00203979" "00004" "PCDH15_000270" "g.55582674C>A" "frequency 0.018" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.53822914C>A" "" "likely benign" "" "0000684779" "0" "30" "10" "55721637" "55721637" "subst" "0.000874866" "00004" "PCDH15_000170" "g.55721637G>A" "frequency 0.014" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.53961877G>A" "" "likely benign" "" "0000684839" "3" "90" "10" "55626458" "55626458" "subst" "0" "00004" "PCDH15_000389" "g.55626458G>A" "" "{PMID:Santana 2019:31231422}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685338" "0" "90" "10" "56077174" "56077174" "subst" "0.000207462" "00004" "PCDH15_000039" "g.56077174G>A" "5/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685685" "3" "90" "10" "55912907" "55912907" "subst" "4.0699E-6" "00004" "PCDH15_000051" "g.55912907G>C" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "" "" "Germline" "" "" "0" "" "" "g.54153147G>C" "" "pathogenic (recessive)" "" "0000690725" "0" "50" "10" "55582214" "55582225" "del" "0" "01943" "PCDH15_000390" "g.55582214_55582225del" "" "" "" "PCDH15(NM_001142763.1):c.5290_5301delTCTCCTCCTCCT (p.S1764_P1767del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690726" "0" "30" "10" "55582442" "55582442" "subst" "9.75491E-5" "01943" "PCDH15_000391" "g.55582442C>T" "" "" "" "PCDH15(NM_001142763.1):c.5065G>A (p.E1689K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690727" "0" "30" "10" "55582934" "55582934" "subst" "8.13121E-6" "01943" "PCDH15_000392" "g.55582934C>T" "" "" "" "PCDH15(NM_001142763.1):c.4573G>A (p.D1525N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690728" "0" "50" "10" "55587197" "55587202" "dup" "0" "01943" "PCDH15_000393" "g.55587197_55587202dup" "" "" "" "PCDH15(NM_001354429.1):c.4323_4328dupTCCGCC (p.P1442_P1443dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000708851" "0" "50" "10" "55782873" "55782873" "subst" "4.06934E-6" "03779" "PCDH15_000394" "g.55782873C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs748808565" "0" "" "" "" "" "VUS" "" "0000722842" "0" "90" "10" "55566577" "55566577" "dup" "0" "01943" "PCDH15_000395" "g.55566577dup" "" "" "" "PCDH15(NM_001354429.1):c.4924dupA (p.M1642Nfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722843" "0" "50" "10" "55568981" "55568981" "del" "0" "01943" "PCDH15_000396" "g.55568981del" "" "" "" "PCDH15(NM_001142769.2):c.4844delG (p.S1615Mfs*205), PCDH15(NM_001142771.1):c.4497+1335delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722844" "0" "50" "10" "55569247" "55569249" "del" "0" "01943" "PCDH15_000397" "g.55569247_55569249del" "" "" "" "PCDH15(NM_001142770.2):c.4615_4617delAAG (p.K1539*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722845" "0" "50" "10" "55582199" "55582213" "del" "0" "01943" "PCDH15_000398" "g.55582199_55582213del" "" "" "" "PCDH15(NM_001142763.1):c.5300_5314delCTGCTCCTGCTCCTC (p.P1767_P1771del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722846" "0" "30" "10" "55663054" "55663054" "subst" "0.000512787" "01943" "PCDH15_000400" "g.55663054G>T" "" "" "" "PCDH15(NM_001354429.1):c.3450C>A (p.I1150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722847" "0" "50" "10" "55944894" "55944894" "subst" "8.13193E-5" "01943" "PCDH15_000404" "g.55944894C>T" "" "" "" "PCDH15(NM_001354429.1):c.1440G>A (p.S480=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722848" "0" "90" "10" "56077174" "56077174" "subst" "0.000207462" "01943" "PCDH15_000039" "g.56077174G>A" "" "" "" "PCDH15(NM_001142771.1):c.748C>T (p.R250*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722849" "0" "30" "10" "56287647" "56287647" "subst" "6.51201E-5" "01943" "PCDH15_000250" "g.56287647G>A" "" "" "" "PCDH15(NM_001142771.2):c.107-10C>T, PCDH15(NM_001354429.1):c.92-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729807" "3" "90" "10" "55582918" "55582918" "del" "0" "00000" "PCDH15_000399" "g.55582918del" "" "{PMID:Chen 2018:29692870}" "" "" "" "Germline" "" "" "0" "" "" "g.53823158del" "" "pathogenic (recessive)" "" "0000729808" "3" "90" "10" "55582918" "55582918" "del" "0" "00000" "PCDH15_000399" "g.55582918del" "" "{PMID:Chen 2018:29692870}" "" "" "" "Germline" "" "" "0" "" "" "g.53823158del" "" "pathogenic (recessive)" "" "0000730122" "1" "90" "10" "55700625" "55700625" "subst" "0" "00000" "PCDH15_000402" "g.55700625C>T" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.53940865C>T" "" "pathogenic" "ACMG" "0000730123" "1" "90" "10" "56138666" "56138671" "delins" "0" "00000" "PCDH15_000408" "g.56138666_56138671delinsTGTTGTCC" "" "{PMID:Sun 2018:29625443}" "" "c.189_194delAGGGACinsGGACAACA" "" "Germline" "" "" "0" "" "" "g.54378906_54378911delinsTGTTGTCC" "" "pathogenic" "ACMG" "0000730124" "3" "70" "10" "55913053" "55913053" "subst" "0.000142426" "00000" "PCDH15_000176" "g.55913053G>A" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.54153293G>A" "" "likely pathogenic" "ACMG" "0000730125" "1" "90" "10" "55955550" "55955550" "delins" "0" "00000" "PCDH15_000405" "g.55955550delinsTCT" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.54195790delinsTCT" "" "pathogenic" "ACMG" "0000730139" "1" "70" "10" "55955614" "55955614" "subst" "2.03108E-5" "00000" "PCDH15_000406" "g.55955614A>C" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.54195854A>C" "" "likely pathogenic" "ACMG" "0000730215" "1" "50" "10" "55663053" "55663053" "subst" "0.00126144" "00000" "PCDH15_000381" "g.55663053C>T" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.53903293C>T" "" "VUS" "ACMG" "0000730218" "0" "50" "10" "55973787" "55973787" "subst" "4.06375E-5" "00000" "PCDH15_000407" "g.55973787C>T" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.54214027C>T" "" "VUS" "ACMG" "0000730226" "2" "90" "10" "55912906" "55912907" "ins" "0" "00000" "PCDH15_000403" "g.55912906_55912907insT" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.54153146_54153147insT" "" "pathogenic" "ACMG" "0000730254" "0" "70" "10" "55721637" "55721637" "subst" "0.000874866" "00000" "PCDH15_000170" "g.55721637G>A" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.53961877G>A" "" "likely pathogenic" "ACMG" "0000730261" "2" "90" "10" "56138666" "56138671" "delins" "0" "00000" "PCDH15_000408" "g.56138666_56138671delinsTGTTGTCC" "" "{PMID:Sun 2018:29625443}" "" "c.189_194delAGGGACinsGGACAACA" "" "Germline" "" "" "0" "" "" "g.54378906_54378911delinsTGTTGTCC" "" "pathogenic" "ACMG" "0000730298" "2" "90" "10" "55663068" "55663068" "dup" "0" "00000" "PCDH15_000401" "g.55663068dup" "" "{PMID:Sun 2018:29625443}" "" "c.3436dupA" "" "Germline" "" "" "0" "" "" "g.53903308dup" "" "pathogenic" "ACMG" "0000730308" "0" "50" "10" "55582674" "55582674" "subst" "0.00203979" "00000" "PCDH15_000270" "g.55582674C>A" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.53822914C>A" "" "VUS" "ACMG" "0000732466" "0" "50" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Costa 2017:28912962}" "" "2596G>A (Val866Met)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000732497" "0" "90" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Costa 2017:28912962}" "" "608C>T (Pro203Leu)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000732507" "0" "90" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Costa 2017:28912962}" "" "2578C>T (Arg860Trp)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000732881" "0" "70" "10" "56077192" "56077206" "del" "0" "00000" "PCDH15_000409" "g.56077192_56077206del" "" "{PMID:Stone 2017:28559085}" "" "IVS7-5 del15tAACAGGACCGTGCCC" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.54317432_54317446del" "" "likely pathogenic" "" "0000733248" "3" "70" "10" "56077174" "56077174" "subst" "0.000207462" "00000" "PCDH15_000039" "g.56077174G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.54317414G>A" "" "likely pathogenic" "" "0000733249" "3" "70" "10" "56077174" "56077174" "subst" "0.000207462" "00000" "PCDH15_000039" "g.56077174G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.54317414G>A" "" "likely pathogenic" "" "0000733250" "3" "70" "10" "56077174" "56077174" "subst" "0.000207462" "00000" "PCDH15_000039" "g.56077174G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.54317414G>A" "" "likely pathogenic" "" "0000733251" "3" "70" "10" "56077174" "56077174" "subst" "0.000207462" "00000" "PCDH15_000039" "g.56077174G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.54317414G>A" "" "likely pathogenic" "" "0000733252" "3" "70" "10" "56077174" "56077174" "subst" "0.000207462" "00000" "PCDH15_000039" "g.56077174G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.54317414G>A" "" "likely pathogenic" "" "0000733253" "3" "70" "10" "56077174" "56077174" "subst" "0.000207462" "00000" "PCDH15_000039" "g.56077174G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.54317414G>A" "" "likely pathogenic" "" "0000733254" "1" "70" "10" "56077174" "56077174" "subst" "0.000207462" "00000" "PCDH15_000039" "g.56077174G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.54317414G>A" "" "likely pathogenic" "" "0000733662" "2" "70" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Stone 2017:28559085}" "" "2800C>T Arg934StopCGA>TGA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000735994" "1" "50" "10" "55582183" "55582191" "dup" "0" "02485" "PCDH15_000215" "g.55582183_55582191dup" "" "{PMID:Bravo-Gil 2017:28157192}" "" "c.5296_5304dupGCTCCTCCT" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.53822423_53822431dup" "" "VUS" "" "0000736844" "0" "50" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "2/486 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "NM_033056.3:c.5275_5277del (Pro1759del)" "no genotypes reported" "Germline" "" "rs397517462" "0" "" "" "" "" "VUS" "" "0000736845" "0" "50" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "1/486 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "NM_033056.3:c.5308_5313del (Ala1770_Pro1771del)" "no genotypes reported" "Germline" "" "rs397517465" "0" "" "" "" "" "VUS" "" "0000736846" "0" "50" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "1/486 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "NM_033056.3:c.5390_5395del (Leu1797_Pro1798del)" "no genotypes reported" "Germline" "" "rs779691085" "0" "" "" "" "" "VUS" "" "0000736847" "0" "50" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "5/486 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "NM_033056.3:c.5622_5624del (Thr1876del)" "no genotypes reported" "Germline" "" "rs113363047" "0" "" "" "" "" "VUS" "" "0000759737" "3" "90" "10" "56128954" "56128954" "subst" "4.07282E-6" "00000" "PCDH15_000078" "g.56128954G>A" "" "{PMID:Ben-Rebeh 2016:27440999}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54369194G>A" "" "pathogenic (recessive)" "" "0000759978" "0" "50" "10" "55587206" "55587214" "del" "0" "00000" "PCDH15_000412" "g.55587206_55587214del" "" "{PMID:Tiwari 2016:27353947}" "" "NM_001142763.1:c.4329_4337del" "" "Germline" "" "" "0" "" "" "g.53827446_53827454del" "" "VUS" "" "0000760067" "0" "50" "10" "55566702" "55566702" "subst" "0.00262362" "00000" "PCDH15_000308" "g.55566702C>T" "" "{PMID:Tiwari 2016:27353947}" "" "NM_001142763.1:c.*14916G>A" "" "Germline" "" "" "0" "" "" "g.53806942C>T" "" "VUS" "" "0000760248" "0" "50" "10" "55582115" "55582124" "del" "0" "00000" "PCDH15_000411" "g.55582115_55582124del" "" "{PMID:Ellingford 2016:27208204}" "" "NM_001142763.1:5385_5394delTCCTCTTCCT" "" "Germline" "" "" "0" "" "" "g.53822355_53822364del" "" "VUS" "" "0000760470" "0" "50" "10" "55581921" "55581921" "subst" "1.21873E-5" "00000" "PCDH15_000410" "g.55581921G>T" "" "{PMID:Ellingford 2016:27208204}" "" "NM_001142763.15586C>A" "" "Germline" "" "" "0" "" "" "g.53822161G>T" "" "VUS" "" "0000765231" "1" "90" "10" "56128953" "56128953" "subst" "8.14458E-6" "00000" "PCDH15_000045" "g.56128953C>T" "" "{PMID:Neuhaus 2017:28944237}" "" "" "" "Germline" "yes" "rs137853003" "0" "" "" "g.54369193C>T" "" "pathogenic" "" "0000765232" "3" "90" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Neuhaus 2017:28944237}" "" "del ex1-3" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000765348" "2" "90" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Neuhaus 2017:28944237}" "" "del ex1-3" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000783895" "1" "50" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Wang 2015:26047050}" "" "5308_5313del (A1770_P1771del)" "" "Germline" "" "" "0" "" "" "g.53822414_53822419del" "" "VUS" "" "0000783981" "2" "50" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Wang 2015:26047050}" "" "2899C>T (R967C)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000783984" "3" "90" "10" "0" "0" "" "0" "00006" "CYP2C9_001038" "g.?" "" "{PMID:Chen 2015:26011067}" "" "OTTHUMT 00000291342:c.1238delT" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000784001" "0" "10" "10" "55582674" "55582674" "subst" "0.00203979" "00006" "PCDH15_000270" "g.55582674C>A" "18/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "" "Germline" "" "rs148718874" "0" "" "" "" "" "benign" "" "0000784002" "1" "50" "10" "55913053" "55913053" "subst" "0.000142426" "00006" "PCDH15_000176" "g.55913053G>A" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000784166" "0" "50" "10" "55582674" "55582674" "subst" "0.00203979" "00000" "PCDH15_000270" "g.55582674C>A" "18/314" "{PMID:Xu 2015:25999675}" "" "" "" "Germline" "" "rs148718874" "0" "" "" "g.53822914C>A" "" "VUS" "" "0000784167" "0" "50" "10" "55955553" "55955553" "subst" "0.000231497" "00000" "PCDH15_000413" "g.55955553T>G" "1/314" "{PMID:Xu 2015:25999675}" "" "" "" "Germline" "" "rs199786639" "0" "" "" "g.54195793T>G" "" "VUS" "" "0000784662" "3" "50" "10" "55582674" "55582674" "subst" "0.00203979" "00000" "PCDH15_000270" "g.55582674C>A" "18/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "40/1266 control chromosomes" "Germline" "" "rs148718874" "0" "" "" "g.53822914C>A" "" "VUS" "" "0000784663" "3" "50" "10" "55721637" "55721637" "subst" "0.000874866" "00000" "PCDH15_000170" "g.55721637G>A" "6/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "42/1266 control chromosomes" "Germline" "" "rs201816080" "0" "" "" "g.53961877G>A" "" "VUS" "" "0000785520" "1" "50" "10" "55755509" "55755509" "subst" "0.000171255" "00006" "PCDH15_000382" "g.55755509G>A" "" "{PMID:Kikuchi 2015:25692141}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000788381" "0" "50" "10" "55943311" "55943311" "subst" "0.000109693" "00000" "PCDH15_000040" "g.55943311C>T" "" "{PMID:Katagiri 2014:25268133}" "" "G1483A" "" "Germline" "" "rs187727835" "0" "" "" "g.54183551C>T" "" "VUS" "" "0000788468" "0" "50" "10" "55582297" "55582297" "subst" "2.44628E-5" "00000" "PCDH15_000414" "g.55582297A>T" "" "{PMID:Katagiri 2014:25268133}" "" "T5189A" "" "Germline" "" "" "0" "" "" "g.53822537A>T" "" "VUS" "" "0000790737" "3" "70" "10" "56408524" "56572560" "del" "0" "00000" "PCDH15_000415" "g.56408524_56572560del" "" "{PMID:Coppieters 2014:24625443}" "" "celetion ex1-2" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000794017" "0" "90" "10" "55582619" "55582620" "ins" "0" "00000" "PCDH15_000417" "g.55582619_55582620insTGTC" "" "{PMID:Nishiguchi-2012:22848652}" "" "c.4866_4867insGACA" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000794020" "0" "90" "10" "55582221" "55582222" "ins" "0" "00000" "PCDH15_000416" "g.55582221_55582222insAGAC" "" "{PMID:Nishiguchi-2012:22848652}" "" "c.5264_5265insGTCT" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000794147" "0" "70" "1" "22154919" "22154919" "subst" "0" "00000" "PCDH15_000001" "g.22154919C>T" "" "{PMID:Wan 2018:30245926}" "" "c.12238G>A; p.Val4080Met" "Known high myopia gene; heterozygous variant" "Unknown" "?" "" "0" "" "" "g.21828426C>T" "" "likely pathogenic" "" "0000794341" "3" "90" "10" "55892690" "55892691" "dup" "0" "00000" "PCDH15_000418" "g.55892690_55892691dup" "" "{PMID:Wang 2018:30029497}" "" "NM_033056.3:c.1863_1864dup, NP_149045.3:p.(Ser622IlefsTer9), NC_000010.10:g.55892690_55892691dup" "" "Germline" "?" "" "0" "" "" "g.54132930_54132931dup" "" "pathogenic" "ACMG" "0000794863" "21" "50" "10" "56077174" "56077174" "subst" "0.000207462" "00000" "PCDH15_000039" "g.56077174G>A" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "erroneous transcript indicated: NM_001142763, c.733C>T, p.Arg245Ter" "" "Germline" "?" "" "0" "" "" "g.54317414G>A" "" "VUS" "" "0000795861" "0" "70" "10" "56287620" "56287620" "subst" "0" "00000" "PCDH15_000419" "g.56287620C>A" "" "{PMID:Perez-Carro 2018:29912909}" "" "c.124G>T, p.(Gly42*) (NM_001142763.1)" "" "Germline" "" "" "0" "" "" "g.54527860C>A" "" "likely pathogenic" "" "0000797556" "0" "70" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Jespersgaar 2019:30718709}" "" "CACNA1F c.244C>T, p.(Arg82*), pCDH15 c.(3983+1_3984-1) _(4367+1_4368-1)del" "" "Germline" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "ACMG" "0000798039" "0" "70" "10" "55581640" "55581641" "del" "0" "00000" "PCDH15_000420" "g.55581640_55581641del" "" "{PMID:Jespersgaar 2019:30718709}" "" "PCDH15 c.5847_5848del, p.(His1949Glnfs*14)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.53821880_53821881del" "" "likely pathogenic" "ACMG" "0000798040" "0" "70" "10" "56106125" "56106125" "subst" "2.0336E-5" "00000" "PCDH15_000421" "g.56106125C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "PCDH15 c.594G>A, p.(Pro198Pro)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.54346365C>T" "" "likely pathogenic" "ACMG" "0000804450" "0" "30" "10" "55566501" "55566501" "subst" "0" "01943" "PCDH15_000422" "g.55566501T>G" "" "" "" "PCDH15(NM_001354429.1):c.4995A>C (p.P1665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804451" "0" "30" "10" "55568989" "55568989" "subst" "7.32487E-5" "02330" "PCDH15_000423" "g.55568989A>G" "" "" "" "PCDH15(NM_001142769.3):c.4836T>C (p.T1612=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804452" "0" "50" "10" "55581760" "55581760" "subst" "0.000138168" "01943" "PCDH15_000204" "g.55581760C>T" "" "" "" "PCDH15(NM_001142763.1):c.5747G>A (p.R1916H), PCDH15(NM_001142763.2):c.5747G>A (p.R1916H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804453" "0" "50" "10" "55581868" "55581868" "subst" "2.03095E-5" "01943" "PCDH15_000424" "g.55581868G>C" "" "" "" "PCDH15(NM_001142763.1):c.5639C>G (p.T1880R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804454" "0" "30" "10" "55581929" "55581929" "subst" "0.00067841" "01943" "PCDH15_000055" "g.55581929T>G" "" "" "" "PCDH15(NM_001142763.1):c.5578A>C (p.M1860L), PCDH15(NM_001142763.2):c.5578A>C (p.M1860L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804455" "0" "30" "10" "55582205" "55582213" "del" "0" "01943" "PCDH15_000322" "g.55582205_55582213del" "" "" "" "PCDH15(NM_001142763.1):c.5299_5307delCCTGCTCCT (p.P1767_P1769del), PCDH15(NM_001142763.2):c.5299_5307delCCTGCTCCT (p.P1767_P1769del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804456" "0" "30" "10" "55591197" "55591197" "subst" "0.000207105" "01943" "PCDH15_000425" "g.55591197C>T" "" "" "" "PCDH15(NM_001354429.1):c.4080G>A (p.V1360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804457" "0" "50" "10" "55719513" "55719513" "subst" "0" "01943" "PCDH15_000426" "g.55719513C>T" "" "" "" "PCDH15(NM_001354429.1):c.3101G>A (p.R1034H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804458" "0" "30" "10" "55755523" "55755523" "subst" "0" "02330" "PCDH15_000427" "g.55755523A>G" "" "" "" "PCDH15(NM_001354429.2):c.2754T>C (p.D918=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804459" "0" "30" "10" "55943305" "55943305" "subst" "0" "01943" "PCDH15_000428" "g.55943305T>C" "" "" "" "PCDH15(NM_001354429.1):c.1489A>G (p.I497V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000813849" "3" "70" "10" "55849814" "55849814" "subst" "0" "00000" "PCDH15_000023" "g.55849814G>A" "" "{PMID:Jiman 2020:31836858}" "" "PCDH15;NM_001142771.1;c.[1942C>T];[1942C>T];p.[(Arg648*)];[(Arg648*)]" "different transcript: NM_001142771.1(PCDH15):c.1942C>T, p.(Arg648*); homozygous" "Unknown" "?" "" "0" "" "" "g.54090054G>A" "" "likely pathogenic" "" "0000816215" "0" "70" "10" "55912609" "55913303" "del" "0" "00000" "PCDH15_000429" "g.55912609_55913303del" "" "{PMID:Zampaglione 2020:32037395}" "" "PCDH15 chr10:55912609_55913303del" "range 89-10633 bp in various techniques, heterozygous" "Unknown" "?" "" "0" "" "" "g.54152849_54153543del" "" "likely pathogenic" "" "0000816796" "3" "70" "10" "56077174" "56077174" "subst" "0.000207462" "00000" "PCDH15_000039" "g.56077174G>A" "" "{PMID:Jauregui 2020:32098976}" "" "PCDH15 c.733C>T, p.R245X" "homozygous" "Unknown" "?" "" "0" "" "" "g.54317414G>A" "" "likely pathogenic" "" "0000818934" "0" "70" "10" "55826516" "56424023" "del" "0" "00000" "PCDH15_000430" "g.(55782958_55826516)_(56424023_?)del" "" "{PMID:Ellingford 2017:28378820}, {PMID:Ellingsford 2018:29074561}" "" "del ex2_18" "" "Germline" "" "" "0" "" "" "g.(54023198_54066756)_(54664263_?)del" "" "likely pathogenic" "" "0000818935" "0" "70" "10" "55780079" "55780079" "subst" "3.65827E-5" "00000" "PCDH15_000385" "g.55780079G>A" "" "{PMID:Ellingsford 2018:29074561}" "" "NM_001142763.1:c.2639C>T p.(Ser880Leu)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000819322" "1" "70" "10" "55721550" "55721550" "subst" "2.03494E-5" "00000" "PCDH15_000037" "g.55721550G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PCDH15, variant 1: c.2971C>T/p.R991*, variant 2 :Deletion exon 3-32" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.53961790G>A" "" "likely pathogenic" "" "0000819374" "1" "70" "10" "55616950" "55616953" "del" "0" "00000" "PCDH15_000162" "g.55616950_55616953del" "" "{PMID:Weisschuh 2020:32531858}" "" "PCDH15, variant 1: c.3791_3794del/p.I1264fs*, variant 2 :Deletion exon 2" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.53857190_53857193del" "" "likely pathogenic" "" "0000819383" "1" "70" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "PCDH15, variant 1 :Duplication exon 3-32, variant 2 :Duplication exon 3-32" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000819460" "1" "70" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "PCDH15, variant 1 :Deletion exon 4, variant 2 :Deletion exon 4" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000819461" "1" "70" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "PCDH15, variant 1 :Deletion exon 4, variant 2 :Deletion exon 4" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000820613" "1" "70" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "PCDH15, variant 1: c.2971C>T/p.R991*, variant 2 :Deletion exon 3-32" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000820627" "1" "70" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "PCDH15, variant 1: c.3791_3794del/p.I1264fs*, variant 2 :Deletion exon 2" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000821467" "0" "70" "10" "55829578" "56723036" "del" "0" "00000" "CYP2C9_001038" "g.55829578_56723036del" "" "{PMID:Turro 2020:32581362}" "" "chr10:g.55829578_56723036del" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000821648" "3" "70" "10" "56104359" "56108448" "del" "0" "00000" "CYP2C9_001038" "g.56104359_56108448del" "" "{PMID:Turro 2020:32581362}" "" "chr10:g.56104359_56108448del" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000822956" "3" "70" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Méjécase 2020:32783370}" "" "PCDH15 Deletion of the first three coding exons" "homozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000823168" "21" "70" "10" "55782816" "55782818" "del" "0" "00000" "PCDH15_000183" "g.55782816_55782818del" "" "{PMID:Zheng 2020:32835555}" "" "PCDH15 c.2367_2369delTGT" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54023056_54023058del" "" "likely pathogenic" "" "0000825883" "0" "70" "10" "55581762" "55581765" "del" "2.84451E-5" "00000" "PCDH15_000431" "g.55581762_55581765del" "" "{PMID:Liu-2020:33090715}" "" "c.5721_5724delTCTA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825885" "0" "70" "10" "55581769" "55581769" "dup" "4.06382E-6" "00000" "PCDH15_000432" "g.55581769dup" "" "{PMID:Liu-2020:33090715}" "" "c.5717dupA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825978" "0" "70" "10" "56077066" "56077066" "subst" "1.62573E-5" "00000" "PCDH15_000433" "g.56077066T>C" "" "{PMID:Liu-2020:33090715}" "" "c.841A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825979" "0" "70" "10" "56287583" "56287583" "subst" "8.97871E-5" "00000" "PCDH15_000436" "g.56287583T>C" "" "{PMID:Liu-2020:33090715}" "" "c.146A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826010" "0" "70" "10" "55582674" "55582674" "subst" "0.00203979" "00000" "PCDH15_000270" "g.55582674C>A" "" "{PMID:Liu-2020:33090715}" "" "c.4812G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826011" "0" "70" "10" "55617017" "55617017" "subst" "0.000366026" "00000" "PCDH15_000172" "g.55617017C>T" "" "{PMID:Liu-2020:33090715}" "" "c.3724G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826450" "0" "50" "10" "56077174" "56077174" "subst" "0.000207462" "00000" "PCDH15_000039" "g.56077174G>A" "" "{PMID:Khalaileh-2018:29490346}" "" "c.733C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000826492" "3" "30" "10" "55721636" "55721636" "subst" "0.00271354" "00000" "PCDH15_000343" "g.55721636C>A" "" "{PMID:Fuster-Garcia-2019:31725169}" "" "c.2885G>T" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000827479" "0" "90" "10" "56106163" "56106163" "subst" "0" "00000" "PCDH15_000434" "g.56106163G>A" "" "{PMID:Colombo-2020:33576794}" "" "c.556C>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000827480" "0" "70" "10" "56138552" "56138552" "subst" "0" "00000" "PCDH15_000435" "g.56138552A>C" "" "{PMID:Colombo-2020:33576794}" "" "c.308T>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000827481" "3" "70" "10" "56128953" "56128953" "subst" "8.14458E-6" "00000" "PCDH15_000045" "g.56128953C>T" "" "{PMID:Colombo-2020:33576794}" "" "c.401G>A" "" "Germline" "" "rs767966376" "0" "" "" "" "" "likely pathogenic" "" "0000827482" "3" "50" "10" "55582194" "55582199" "del" "0" "00000" "PCDH15_000216" "g.55582194_55582199del" "" "{PMID:Colombo-2020:33576794}" "" "c.5287_5292del" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000828797" "1" "50" "10" "55721637" "55721637" "subst" "0.000874866" "00000" "PCDH15_000170" "g.55721637G>A" "" "{PMID:Chen 2021:43360855}" "" "PCDH15 c.[2899C>T];[2899C>T], V1: c.2899C>T, (p.Arg967Cys)" "different transcript: ENST00000264448.6(ALMS1):c.10825_10826del, (p.Arg3609AlafsTer6); homozygous" "Unknown" "?" "" "0" "" "" "g.53961877G>A" "" "VUS" "ACMG" "0000828900" "0" "70" "10" "55582898" "55582899" "ins" "0" "00000" "PCDH15_000437" "g.55582898_55582899insCTCT" "" "{PMID:Chen 2021:43360855}" "" "PCDH15 c.[4588_4589insGAGA];[?], V1: c.4588_4589insGAGA, (p.Asn1530ArgfsTer8)" "single heterozygous variant in a recessive disease: a variant on the other allele is expected but not yet identified" "Unknown" "?" "" "0" "" "" "g.53823138_53823139insCTCT" "" "likely pathogenic" "ACMG" "0000829002" "2" "50" "10" "55582205" "55582210" "del" "0" "00000" "PCDH15_000216" "g.55582205_55582210del" "" "{PMID:Chen 2021:43360855}" "" "PCDH15 c.[2899C>T];[2899C>T], V2: c.5308_5313delGCTCCT, (p.Ala1770_Pro1771del)" "different transcript: ENST00000264448.6(ALMS1):c.10825_10826del, (p.Arg3609AlafsTer6), error in genomic HGVS annotation; heterozygous" "Unknown" "?" "" "0" "" "" "g.53822445_53822450del" "" "VUS" "ACMG" "0000829478" "0" "70" "10" "55582750" "55582753" "del" "8.12618E-6" "00000" "PCDH15_000438" "g.55582750_55582753del" "" "{PMID:Wafa-2021:33089500}" "" "c.4733_4736delTCAG;p.V1578AfsX6" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829479" "0" "70" "10" "55912906" "55912907" "ins" "0" "00000" "PCDH15_000403" "g.55912906_55912907insT" "" "{PMID:Wafa-2021:33089500}" "" "c.1737_1738insA,p.A580SfsX9" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829507" "0" "50" "10" "56288165" "56288165" "subst" "0" "00000" "PCDH15_000440" "g.56288165G>A" "" "{PMID:Wafa-2021:33089500}" "" "c.92-528C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000829508" "0" "70" "10" "55955444" "55955444" "subst" "0.238381" "00000" "PCDH15_000073" "g.55955444T>G" "" "{PMID:Wafa-2021:33089500}" "" "c.1304A>C,p.D435A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829537" "3" "70" "10" "0" "0" "del" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Wafa-2021:33089500}" "" "p.R245*" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829538" "0" "70" "10" "0" "0" "del" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Wafa-2021:33089500}" "" "p.R245*" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829539" "0" "70" "10" "0" "0" "del" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Wafa-2021:33089500}" "" "p.R929*" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829540" "0" "70" "10" "0" "0" "del" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Wafa-2021:33089500}" "" "p.R245*" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829541" "0" "70" "10" "0" "0" "del" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Wafa-2021:33089500}" "" "p.R929*" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829706" "1" "90" "10" "55721550" "55721550" "subst" "2.03494E-5" "00006" "PCDH15_000037" "g.55721550G>A" "" "{PMID:Ellingford 2016:26872967}" "" "" "" "Germline" "" "" "0" "" "" "g.53961790G>A" "" "pathogenic" "" "0000829727" "2" "70" "10" "56094632" "56749853" "del" "0" "00006" "PCDH15_000439" "g.56094632_56749853del" "" "{PMID:Ellingford 2016:26872967}" "" "c.-189197_c.610-5166del" "" "Germline" "" "" "0" "" "" "g.54334872_54990093del" "" "likely pathogenic" "" "0000847531" "3" "70" "10" "55955444" "55955444" "subst" "0.238381" "00000" "PCDH15_000073" "g.55955444T>G" "" "{PMID:Saleha 2016:27275418}" "" "PCDH15 c.1304A>C p.435D>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.54195684T>G" "" "likely pathogenic" "" "0000847532" "3" "70" "10" "55955444" "55955444" "subst" "0.238381" "00000" "PCDH15_000073" "g.55955444T>G" "" "{PMID:Saleha 2016:27275418}" "" "PCDH15 c.1304A>C p.435D>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.54195684T>G" "" "likely pathogenic" "" "0000847533" "3" "70" "10" "55955444" "55955444" "subst" "0.238381" "00000" "PCDH15_000073" "g.55955444T>G" "" "{PMID:Saleha 2016:27275418}" "" "PCDH15 c.1304A>C p.435D>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.54195684T>G" "" "likely pathogenic" "" "0000847534" "3" "70" "10" "55955444" "55955444" "subst" "0.238381" "00000" "PCDH15_000073" "g.55955444T>G" "" "{PMID:Saleha 2016:27275418}" "" "PCDH15 c.1304A>C p.435D>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.54195684T>G" "" "likely pathogenic" "" "0000852498" "0" "50" "10" "55569258" "55569258" "subst" "8.1656E-6" "01943" "PCDH15_000442" "g.55569258T>C" "" "" "" "PCDH15(NM_001142769.2):c.4567A>G (p.S1523G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852499" "0" "30" "10" "55582758" "55582758" "subst" "0" "01943" "PCDH15_000444" "g.55582758C>T" "" "" "" "PCDH15(NM_001142763.1):c.4749G>A (p.Q1583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852500" "0" "50" "10" "55582805" "55582808" "dup" "0" "01943" "PCDH15_000445" "g.55582805_55582808dup" "" "" "" "PCDH15(NM_001142763.1):c.4702_4705dupAAGT (p.S1569*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852501" "0" "30" "10" "55591068" "55591068" "subst" "0" "01943" "PCDH15_000446" "g.55591068T>A" "" "" "" "PCDH15(NM_001354429.1):c.4202+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852502" "0" "30" "10" "55600100" "55600100" "subst" "8.12236E-6" "01943" "PCDH15_000447" "g.55600100G>A" "" "" "" "PCDH15(NM_001354429.1):c.3963C>T (p.I1321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852503" "0" "50" "10" "55721603" "55721603" "subst" "0" "01943" "PCDH15_000448" "g.55721603G>T" "" "" "" "PCDH15(NM_001354429.1):c.2918C>A (p.P973H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852504" "0" "30" "10" "55721636" "55721636" "subst" "0.00271354" "02327" "PCDH15_000343" "g.55721636C>A" "" "" "" "PCDH15(NM_001142771.1):c.2900G>T (p.R967L), PCDH15(NM_001142771.2):c.2900G>T (p.R967L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852505" "0" "50" "10" "55780140" "55780140" "subst" "0.000406402" "02327" "PCDH15_000346" "g.55780140G>A" "" "" "" "PCDH15(NM_001142771.1):c.2578C>T (p.R860W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852506" "0" "30" "10" "55782743" "55782743" "subst" "0.000686724" "02330" "PCDH15_000230" "g.55782743A>G" "" "" "" "PCDH15(NM_001142771.1):c.2450T>C (p.I817T), PCDH15(NM_001354429.2):c.2435T>C (p.I812T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852507" "0" "30" "10" "55826535" "55826535" "subst" "2.44119E-5" "01943" "PCDH15_000449" "g.55826535G>A" "" "" "" "PCDH15(NM_001354429.1):c.2202C>T (p.A734=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852508" "0" "50" "10" "55945028" "55945028" "subst" "1.62681E-5" "01943" "PCDH15_000450" "g.55945028T>C" "" "" "" "PCDH15(NM_001354429.1):c.1306A>G (p.T436A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852509" "0" "90" "10" "56424016" "56424016" "subst" "2.0555E-5" "01943" "PCDH15_000053" "g.56424016G>A" "" "" "" "PCDH15(NM_001354429.1):c.7C>T (p.R3*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861922" "0" "30" "10" "55568572" "55568572" "subst" "0" "01943" "PCDH15_000441" "g.55568572A>G" "" "" "" "PCDH15(NM_001142769.2):c.5253T>C (p.S1751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861924" "0" "30" "10" "55581951" "55581951" "subst" "0" "01943" "PCDH15_000443" "g.55581951A>G" "" "" "" "PCDH15(NM_001142763.1):c.5556T>C (p.G1852=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861925" "0" "50" "10" "56138547" "56138547" "subst" "0" "01943" "PCDH15_000451" "g.56138547T>C" "" "" "" "PCDH15(NM_001354429.1):c.313A>G (p.R105G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861926" "0" "30" "10" "56423960" "56423960" "subst" "0" "01943" "PCDH15_000452" "g.56423960A>G" "" "" "" "PCDH15(NM_001354429.1):c.63T>C (p.F21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000872663" "21" "70" "10" "56128876" "56129036" "del" "0" "01741" "PCDH15_000453" "g.(?_56128876)_(56129036_?)del" "" "" "" "56129036_56128876del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000889158" "0" "30" "10" "55566702" "55566702" "subst" "0.00262362" "02330" "PCDH15_000308" "g.55566702C>T" "" "" "" "PCDH15(NM_001142771.1):c.4686G>A (p.T1562=), PCDH15(NM_001354429.2):c.4794G>A (p.T1598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889159" "0" "50" "10" "55568546" "55568546" "dup" "0" "02327" "PCDH15_000454" "g.55568546dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889160" "0" "30" "10" "55582674" "55582674" "subst" "0.00203979" "02330" "PCDH15_000270" "g.55582674C>A" "" "" "" "PCDH15(NM_001142763.1):c.4833G>T (p.R1611S), PCDH15(NM_033056.4):c.4812G>T (p.R1604S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889161" "0" "30" "10" "55698624" "55698624" "subst" "1.22E-5" "02330" "PCDH15_000339" "g.55698624T>C" "" "" "" "PCDH15(NM_001142771.1):c.3339A>G (p.Q1113=), PCDH15(NM_001354429.2):c.3324A>G (p.Q1108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889162" "0" "30" "10" "55780165" "55780165" "subst" "4.06656E-5" "02330" "PCDH15_000456" "g.55780165G>A" "" "" "" "PCDH15(NM_001354429.2):c.2538C>T (p.V846=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889163" "0" "30" "10" "55996665" "55996665" "subst" "0.000142175" "02330" "PCDH15_000072" "g.55996665C>T" "" "" "" "PCDH15(NM_001354429.2):c.903G>A (p.T301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896506" "1" "50" "10" "55721637" "55721637" "subst" "0.000874866" "00000" "PCDH15_000170" "g.55721637G>A" "Taiwan Biobank: 0.01751; GnomAD_exome_East: 0.0118; GnomAD_All: 0.000921" "{PMID:Chen 2021:33608557}" "" "PCDH15 c.[2899C>T];[2899C>T]; p.(Arg962Cys)" "different transcript NM_001142763.1:c.2899C>T, NM_001142763.1(PCDH15):c.2899C>T; heterozygous" "Germline" "yes" "" "0" "" "" "g.53961877G>A" "" "VUS" "" "0000896507" "2" "50" "10" "55582205" "55582210" "del" "0" "00000" "PCDH15_000216" "g.55582205_55582210del" "Taiwan Biobank: 0.008165; GnomAD_exome_East: 0.00503; GnomAD_All: 0.00103" "{PMID:Chen 2021:33608557}" "" "PCDH15 c.[2899C>T];[2899C>T]; p.(Ala1763_Pro1764del)" "different transcript NM_001142763.1:c.5308_5313del, p.(Ala1770_Pro1771del); heterozygous" "Germline" "yes" "" "0" "" "" "g.53822445_53822450del" "" "VUS" "" "0000896633" "0" "70" "10" "55582919" "55582920" "ins" "0" "00000" "PCDH15_000455" "g.55582919_55582920insCTCT" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "PCDH15 c.[4588_4589insGAGA];[?]; p.(Asn1530ArgfsTer8)" "different transcript, error in annotation, should be c.4589_4590insAGAG, p.(Ser1530Argfs*5); heterozygous; single variant in a recessive gene, no second allele found" "Germline" "yes" "" "0" "" "" "g.53823159_53823160insCTCT" "" "likely pathogenic" "" "0000913284" "0" "70" "10" "55569099" "55569099" "subst" "0" "02329" "PCDH15_000298" "g.55569099G>A" "" "" "" "PCDH15(NM_001142769.3):c.4726C>T (p.Q1576*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913285" "0" "30" "10" "55782799" "55782799" "subst" "2.845E-5" "02330" "PCDH15_000457" "g.55782799A>G" "" "" "" "PCDH15(NM_001354429.2):c.2379T>C (p.D793=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000917865" "0" "50" "10" "55971342" "55971342" "subst" "0" "00006" "PCDH15_000458" "g.55971342C>T" "" "{PMID:Velde 2022:35226187}, {DOI:Velde 2022: 10.1007/s00439-022-02441-0}" "" "NM_001142764.2:c.1098+2354G>A" "" "Germline" "" "" "0" "" "" "g.54211582C>T" "" "VUS" "" "0000925162" "0" "50" "10" "55996619" "55996619" "subst" "0.000182801" "02327" "PCDH15_000459" "g.55996619A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929683" "0" "70" "10" "55587280" "55587280" "subst" "0" "02327" "PCDH15_000460" "g.55587280G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000944158" "3" "90" "10" "55892634" "55943203" "del" "0" "00006" "PCDH15_000461" "g.(55913054_55943203)_(55849824_55892634)del" "" "{PMID:Richard 2019: 30303587}" "" "del ex14-15" "" "Germline" "" "" "0" "" "" "g.(54153294_54183443)_(54090064_54132874)del" "" "pathogenic (recessive)" "ACMG" "0000944159" "3" "90" "10" "56128954" "56128954" "subst" "0" "00006" "PCDH15_000058" "g.56128954G>C" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.54369194G>C" "" "pathogenic (recessive)" "" "0000944160" "3" "70" "10" "56077119" "56077119" "subst" "0" "00006" "PCDH15_000463" "g.56077119G>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.54317359G>T" "" "likely pathogenic (recessive)" "ACMG" "0000944161" "3" "90" "10" "55912907" "55912907" "subst" "0" "00006" "PCDH15_000462" "g.55912907G>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.54153147G>T" "" "pathogenic (recessive)" "" "0000946832" "21" "70" "10" "55973787" "55973787" "subst" "4.06375E-5" "00006" "PCDH15_000407" "g.55973787C>T" "" "{PMID:Redfield 2023:37873491}, {DOI:Redfield 2023:10.1101/2023.10.08.23296081}" "" "" "" "Germline" "no" "" "0" "" "" "g.54214027C>T" "" "VUS" "" "0000946833" "21" "70" "10" "55721615" "55721615" "subst" "0" "00006" "PCDH15_000464" "g.55721615T>A" "" "{PMID:Redfield 2023:37873491}, {DOI:Redfield 2023:10.1101/2023.10.08.23296081}" "" "NM_001142769.3:c.2906A>T (Asp969Val)" "variant description reported can not be correct" "Germline" "no" "" "0" "" "" "g.53961855T>A" "" "VUS" "" "0000949405" "0" "50" "10" "55582765" "55582765" "subst" "0" "02327" "PCDH15_000465" "g.55582765C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000958422" "0" "90" "10" "56128988" "56128988" "del" "0" "00006" "PCDH15_000471" "g.56128988del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.54369228del" "" "pathogenic (recessive)" "ACMG" "0000958452" "0" "70" "10" "55566571" "55566571" "dup" "0" "00006" "PCDH15_000466" "g.55566571dup" "" "{PMID:Weisschuh 2024:37734845}" "" "NM_001142772.2:c.4802dup" "ACMG PM2, PVS1_STRONG" "Germline" "" "" "0" "" "" "g.53806811dup" "" "likely pathogenic (recessive)" "ACMG" "0000958745" "0" "90" "10" "55591150" "55591150" "dup" "0" "00006" "PCDH15_000187" "g.55591150dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.53831390dup" "1073474" "pathogenic (recessive)" "ACMG" "0000958749" "0" "90" "10" "55849743" "55849743" "subst" "8.15774E-6" "00006" "PCDH15_000469" "g.55849743C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.54089983C>T" "" "pathogenic (recessive)" "ACMG" "0000958750" "3" "90" "10" "55826546" "55826546" "subst" "0" "00006" "PCDH15_000367" "g.55826546C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.54066786C>A" "" "pathogenic (recessive)" "ACMG" "0000958755" "3" "90" "10" "56077174" "56077174" "subst" "0.000207462" "00006" "PCDH15_000039" "g.56077174G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.54317414G>A" "4933" "pathogenic (recessive)" "ACMG" "0000959199" "0" "70" "10" "55973806" "55978964" "del" "0" "00006" "PCDH15_000470" "g.55973806_55978964del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.54214046_54219204del" "" "likely pathogenic (recessive)" "ACMG" "0000959201" "0" "90" "10" "55600079" "55600079" "subst" "1.21839E-5" "00006" "PCDH15_000468" "g.55600079C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.53840319C>A" "370764" "pathogenic (recessive)" "ACMG" "0000959236" "0" "50" "10" "55780122" "55780122" "subst" "0.000674572" "00006" "PCDH15_000345" "g.55780122C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.54020362C>T" "" "VUS" "ACMG" "0000959237" "0" "50" "10" "55582034" "55582034" "subst" "0" "00006" "PCDH15_000467" "g.55582034G>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.53822274G>T" "" "VUS" "ACMG" "0000959275" "0" "90" "10" "55582797" "55582842" "dup" "0" "00006" "PCDH15_000387" "g.55582797_55582842dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.53823037_53823082dup" "" "pathogenic (recessive)" "ACMG" "0000959375" "0" "70" "10" "55582760" "55582763" "del" "0" "00006" "PCDH15_000438" "g.55582760_55582763del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG" "Germline" "" "" "0" "" "" "g.53823000_53823003del" "" "likely pathogenic (recessive)" "ACMG" "0000965748" "0" "50" "10" "55582111" "55582116" "del" "2.02573E-5" "02327" "PCDH15_000472" "g.55582111_55582116del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965749" "0" "50" "10" "55587195" "55587195" "subst" "4.11472E-6" "02327" "PCDH15_000473" "g.55587195G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965750" "0" "30" "10" "55587209" "55587214" "dup" "0" "02330" "PCDH15_000474" "g.55587209_55587214dup" "" "" "" "PCDH15(NM_001384140.1):c.4317_4322dupGCCGCC (p.P1442_P1443dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965752" "0" "70" "10" "55702463" "55702463" "subst" "0" "02327" "PCDH15_000475" "g.55702463T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000965753" "0" "90" "10" "55719491" "55719491" "subst" "0" "02327" "PCDH15_000476" "g.55719491C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000965757" "0" "50" "10" "56287598" "56287598" "subst" "5.28971E-5" "02327" "PCDH15_000477" "g.56287598A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979069" "0" "30" "10" "55570347" "55570347" "subst" "0.00773693" "01804" "PCDH15_000380" "g.55570347C>T" "" "" "" "PCDH15(NM_001384140.1):c.4640G>A (p.(Gly1547Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979070" "0" "30" "10" "55779943" "55779943" "subst" "0.000261314" "01804" "PCDH15_000344" "g.55779943A>G" "" "" "" "PCDH15(NM_001142771.1):c.2766+9T>C, PCDH15(NM_001142771.2):c.2766+9T>C, PCDH15(NM_001384140.1):c.2751+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985484" "21" "70" "10" "55826588" "55826588" "del" "0" "02230" "PCDH15_000478" "g.55826588del" "" "{PMID:Zeuli 2024:38816995}" "" "" "" "Germline" "" "" "0" "" "" "g.54066828del" "" "likely pathogenic (recessive)" "" "0000985495" "11" "70" "10" "55613485" "55792654" "del" "0" "02230" "PCDH15_000479" "g.55613485_55792654del" "" "{PMID:Zeuli 2024:38816995}" "" "" "" "Germline" "" "" "0" "" "" "g.53853725_54032894del" "" "likely pathogenic (recessive)" "" "0001014627" "0" "30" "10" "55568589" "55568589" "subst" "0.000575206" "02330" "PCDH15_000294" "g.55568589C>T" "" "" "" "PCDH15(NM_001142769.2):c.5236G>A (p.G1746S), PCDH15(NM_001142769.3):c.5236G>A (p.G1746S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037921" "0" "70" "10" "55591150" "55591150" "subst" "1.21827E-5" "02327" "PCDH15_000201" "g.55591150G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037922" "0" "50" "10" "55849744" "55849744" "subst" "6.11785E-5" "01804" "PCDH15_000480" "g.55849744G>A" "" "" "" "PCDH15(NM_001384140.1):c.1997C>T (p.(Thr666Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044616" "11" "90" "10" "55626397" "55626397" "subst" "4.07232E-6" "04847" "PCDH15_000259" "g.55626397C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.53866637C>T" "" "pathogenic (paternal)" "ACMG" ## Variants_On_Transcripts ## 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. ## Note: Only showing Variants_On_Transcript columns active for Genes PCDH15 ## Count = 1984 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000089977" "00025927" "50" "2726" "0" "2726" "0" "c.2726T>A" "r.(?)" "p.(Ile909Asn)" "" "0000089977" "00015744" "50" "2726" "0" "2726" "0" "c.2726T>A" "r.(?)" "p.(Ile909Asn)" "" "0000089978" "00025927" "50" "1830" "0" "1833" "0" "c.1830_1833del" "r.(?)" "p.(Asn610LysfsTer9)" "" "0000089978" "00015744" "50" "1830" "0" "1833" "0" "c.1830_1833del" "r.(?)" "p.(Asn610Lysfs*9)" "" "0000091209" "00025927" "90" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000091209" "00015744" "90" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000128993" "00025927" "70" "3374" "-2" "3374" "-2" "c.3374-2A>G" "r.spl" "p.?" "" "0000128993" "00015744" "70" "3374" "-2" "3374" "-2" "c.3374-2A>G" "r.spl" "p.?" "25i" "0000128994" "00025927" "70" "4127" "0" "4127" "0" "c.4127C>A" "r.(?)" "p.(Ala1376Asp)" "" "0000128994" "00015744" "70" "4127" "0" "4127" "0" "c.4127C>A" "r.(?)" "p.(Ala1376Asp)" "30" "0000130232" "00025927" "70" "705" "2" "705" "2" "c.705+2T>C" "r.spl?" "p.?" "" "0000130232" "00015744" "70" "705" "2" "705" "2" "c.705+2T>C" "r.spl?" "p.?" "" "0000246875" "00015744" "10" "4884" "0" "4884" "0" "c.4884T>C" "r.(?)" "p.(Thr1628=)" "" "0000246893" "00015744" "50" "3857" "0" "3857" "0" "c.3857T>A" "r.(?)" "p.(Val1286Glu)" "" "0000246925" "00015744" "10" "3010" "-18" "3010" "-18" "c.3010-18T>C" "r.(=)" "p.(=)" "" "0000248897" "00015744" "10" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "" "0000253356" "00015744" "10" "4884" "0" "4884" "0" "c.4884T>C" "r.(?)" "p.(Thr1628=)" "" "0000254576" "00015744" "30" "2435" "0" "2435" "0" "c.2435T>C" "r.(?)" "p.(Ile812Thr)" "" "0000254663" "00015744" "30" "5432" "0" "5432" "0" "c.5432T>C" "r.(?)" "p.(Leu1811Pro)" "" "0000254980" "00015744" "30" "5353" "0" "5353" "0" "c.5353T>C" "r.(?)" "p.(Ser1785Pro)" "" "0000255120" "00015744" "30" "4733" "0" "4733" "0" "c.4733T>C" "r.(?)" "p.(Val1578Ala)" "" "0000255692" "00015744" "90" "2868" "2" "2868" "2" "c.2868+2T>C" "r.spl?" "p.?" "" "0000255832" "00015744" "50" "3857" "0" "3857" "0" "c.3857T>A" "r.(?)" "p.(Val1286Glu)" "" "0000255868" "00015744" "50" "4560" "0" "4560" "0" "c.4560T>A" "r.(?)" "p.(Asp1520Glu)" "" "0000293442" "00015744" "10" "21163" "0" "21163" "0" "c.*15295A>C" "r.(=)" "p.(=)" "" "0000293443" "00015744" "10" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Leu347Phe)" "" "0000293444" "00015744" "10" "92" "-493" "92" "-493" "c.92-493A>T" "r.(=)" "p.(=)" "" "0000293445" "00015744" "10" "92" "-10" "92" "-10" "c.92-10C>T" "r.(=)" "p.(=)" "" "0000293446" "00015744" "10" "1590" "15" "1590" "15" "c.1590+15A>G" "r.(=)" "p.(=)" "" "0000293447" "00015744" "10" "1590" "17" "1590" "21" "c.1590+17_1590+21del" "r.(=)" "p.(=)" "" "0000293448" "00015744" "30" "1590" "20" "1590" "20" "c.1590+20A>C" "r.(=)" "p.(=)" "" "0000293449" "00015744" "10" "1702" "0" "1702" "0" "c.1702G>A" "r.(?)" "p.(Ala568Thr)" "" "0000293450" "00015744" "50" "1888" "0" "1888" "0" "c.1888A>G" "r.(?)" "p.(Arg630Gly)" "" "0000293451" "00015744" "10" "1929" "0" "1929" "0" "c.1929A>C" "r.(?)" "p.(Arg643=)" "" "0000293452" "00015744" "50" "2093" "0" "2093" "0" "c.2093C>T" "r.(?)" "p.(Thr698Ile)" "" "0000293453" "00015744" "30" "2370" "0" "2370" "0" "c.2370G>A" "r.(?)" "p.(Val790=)" "" "0000293454" "00015744" "10" "2625" "0" "2625" "0" "c.2625G>A" "r.(?)" "p.(Ser875=)" "" "0000293455" "00015744" "30" "2884" "0" "2884" "0" "c.2884C>T" "r.(?)" "p.(Arg962Cys)" "" "0000293456" "00015744" "10" "2885" "0" "2885" "0" "c.2885G>A" "r.(?)" "p.(Arg962His)" "" "0000293457" "00015744" "50" "2998" "0" "2998" "0" "c.2998A>G" "r.(?)" "p.(Thr1000Ala)" "" "0000293458" "00015744" "10" "3018" "0" "3018" "0" "c.3018G>T" "r.(?)" "p.(Val1006=)" "" "0000293459" "00015744" "50" "3076" "0" "3076" "0" "c.3076G>C" "r.(?)" "p.(Val1026Leu)" "" "0000293460" "00015744" "50" "3455" "0" "3455" "0" "c.3455G>A" "r.(?)" "p.(Gly1152Asp)" "" "0000293462" "00015744" "10" "3502" "-8" "3502" "-8" "c.3502-8C>T" "r.(=)" "p.(=)" "" "0000293463" "00015744" "10" "3717" "8" "3717" "8" "c.3717+8G>C" "r.(=)" "p.(=)" "" "0000293464" "00015744" "10" "4024" "0" "4024" "0" "c.4024C>A" "r.(?)" "p.(Gln1342Lys)" "" "0000293465" "00015744" "10" "4275" "0" "4275" "0" "c.4275A>T" "r.(?)" "p.(Ala1425=)" "" "0000293467" "00015744" "50" "4465" "0" "4481" "0" "c.4465_4481del" "r.(?)" "p.(Thr1489ValfsTer9)" "" "0000293468" "00015744" "10" "18237" "0" "18237" "0" "c.*12369G>A" "r.(=)" "p.(=)" "" "0000293469" "00015744" "10" "18223" "0" "18223" "0" "c.*12355A>C" "r.(=)" "p.(=)" "" "0000293470" "00015744" "10" "20815" "0" "20815" "0" "c.*14947C>T" "r.(=)" "p.(=)" "" "0000293471" "00015744" "30" "4717" "0" "4717" "0" "c.4717C>G" "r.(?)" "p.(Leu1573Val)" "" "0000293473" "00015744" "10" "18608" "0" "18608" "0" "c.*12740A>C" "r.(=)" "p.(=)" "" "0000293474" "00015744" "10" "5068" "0" "5068" "0" "c.5068A>G" "r.(?)" "p.(Ile1690Val)" "" "0000293475" "00015744" "30" "5254" "0" "5256" "0" "c.5254_5256del" "r.(?)" "p.(Pro1752del)" "" "0000293476" "00015744" "10" "18956" "0" "18956" "0" "c.*13088A>G" "r.(=)" "p.(=)" "" "0000293477" "00015744" "30" "5275" "0" "5280" "0" "c.5275_5280del" "r.(?)" "p.(Pro1759_Pro1760del)" "" "0000293478" "00015744" "30" "5398" "0" "5398" "0" "c.5398G>A" "r.(?)" "p.(Val1800Ile)" "" "0000293479" "00015744" "10" "5414" "0" "5414" "0" "c.5414C>T" "r.(?)" "p.(Pro1805Leu)" "" "0000293480" "00015744" "10" "5557" "0" "5557" "0" "c.5557A>C" "r.(?)" "p.(Met1853Leu)" "" "0000293481" "00015744" "10" "5565" "0" "5565" "0" "c.5565C>T" "r.(?)" "p.(Ala1855=)" "" "0000293482" "00015744" "30" "5726" "0" "5726" "0" "c.5726G>A" "r.(?)" "p.(Arg1909His)" "" "0000296783" "00015744" "10" "1590" "20" "1590" "20" "c.1590+20A>G" "r.(=)" "p.(=)" "" "0000296784" "00015744" "10" "2786" "0" "2786" "0" "c.2786G>A" "r.(?)" "p.(Arg929Gln)" "" "0000296785" "00015744" "10" "3984" "-20" "3984" "-20" "c.3984-20C>T" "r.(=)" "p.(=)" "" "0000296786" "00015744" "10" "92" "-57666" "92" "-57666" "c.92-57666A>G" "r.(=)" "p.(=)" "" "0000305080" "00015744" "50" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Arg343Lys)" "" "0000305081" "00015744" "30" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Leu347Phe)" "" "0000305082" "00015744" "50" "1205" "0" "1205" "0" "c.1205G>C" "r.(?)" "p.(Gly402Ala)" "" "0000305083" "00015744" "30" "1362" "0" "1362" "0" "c.1362C>T" "r.(?)" "p.(Val454=)" "" "0000305084" "00015744" "30" "1434" "0" "1434" "0" "c.1434C>T" "r.(?)" "p.(Thr478=)" "" "0000305085" "00015744" "10" "1702" "0" "1702" "0" "c.1702G>A" "r.(?)" "p.(Ala568Thr)" "" "0000305086" "00015744" "30" "1935" "0" "1935" "0" "c.1935A>T" "r.(?)" "p.(Gly645=)" "" "0000305087" "00015744" "50" "2290" "0" "2290" "0" "c.2290C>T" "r.(?)" "p.(Arg764Cys)" "" "0000305088" "00015744" "50" "2354" "0" "2354" "0" "c.2354A>G" "r.(?)" "p.(Tyr785Cys)" "" "0000305089" "00015744" "30" "243" "0" "243" "0" "c.243G>A" "r.(?)" "p.(Val81=)" "" "0000305090" "00015744" "30" "2625" "0" "2625" "0" "c.2625G>A" "r.(?)" "p.(Ser875=)" "" "0000305091" "00015744" "30" "2884" "0" "2884" "0" "c.2884C>T" "r.(?)" "p.(Arg962Cys)" "" "0000305092" "00015744" "30" "2885" "0" "2885" "0" "c.2885G>A" "r.(?)" "p.(Arg962His)" "" "0000305093" "00015744" "30" "290" "0" "290" "0" "c.290A>G" "r.(?)" "p.(Asn97Ser)" "" "0000305094" "00015744" "50" "3317" "0" "3317" "0" "c.3317G>C" "r.(?)" "p.(Arg1106Pro)" "" "0000305095" "00015744" "50" "3374" "-2" "3374" "-2" "c.3374-2A>G" "r.spl?" "p.?" "" "0000305096" "00015744" "50" "3448" "0" "3448" "0" "c.3448A>G" "r.(?)" "p.(Ile1150Val)" "" "0000305097" "00015744" "30" "3502" "-8" "3502" "-8" "c.3502-8C>T" "r.(=)" "p.(=)" "" "0000305098" "00015744" "30" "3717" "8" "3717" "8" "c.3717+8G>C" "r.(=)" "p.(=)" "" "0000305099" "00015744" "30" "4498" "0" "4498" "0" "c.4498G>A" "r.(?)" "p.(Gly1500Arg)" "" "0000305100" "00015744" "30" "18257" "0" "18257" "0" "c.*12389C>T" "r.(=)" "p.(=)" "" "0000305101" "00015744" "10" "18223" "0" "18223" "0" "c.*12355A>C" "r.(=)" "p.(=)" "" "0000305102" "00015744" "30" "20784" "0" "20784" "0" "c.*14916G>A" "r.(=)" "p.(=)" "" "0000305103" "00015744" "30" "4717" "0" "4717" "0" "c.4717C>G" "r.(?)" "p.(Leu1573Val)" "" "0000305104" "00015744" "10" "4812" "0" "4812" "0" "c.4812G>T" "r.(?)" "p.(Arg1604Ser)" "" "0000305105" "00015744" "30" "475" "-3" "475" "-3" "c.475-3C>T" "r.spl?" "p.?" "" "0000305106" "00015744" "50" "4892" "0" "4892" "0" "c.4892C>A" "r.(?)" "p.(Ala1631Glu)" "" "0000305107" "00015744" "90" "4907" "0" "4908" "0" "c.4907_4908del" "r.(?)" "p.(Lys1636ArgfsTer7)" "" "0000305108" "00015744" "30" "18610" "0" "18610" "0" "c.*12742C>T" "r.(=)" "p.(=)" "" "0000305109" "00015744" "30" "18897" "0" "18897" "0" "c.*13029G>A" "r.(=)" "p.(=)" "" "0000305110" "00015744" "30" "5254" "0" "5256" "0" "c.5254_5256del" "r.(?)" "p.(Pro1752del)" "" "0000305111" "00015744" "30" "5263" "0" "5263" "0" "c.5263C>T" "r.(?)" "p.(Pro1755Ser)" "" "0000305112" "00015744" "30" "18959" "0" "18959" "0" "c.*13091G>A" "r.(=)" "p.(=)" "" "0000305113" "00015744" "50" "5287" "0" "5292" "0" "c.5287_5292del" "r.(?)" "p.(Ala1763_Pro1764del)" "" "0000305115" "00015744" "10" "5359" "0" "5359" "0" "c.5359C>T" "r.(?)" "p.(Pro1787Ser)" "" "0000305116" "00015744" "30" "5397" "0" "5397" "0" "c.5397C>T" "r.(?)" "p.(Ser1799=)" "" "0000305117" "00015744" "30" "5398" "0" "5398" "0" "c.5398G>A" "r.(?)" "p.(Val1800Ile)" "" "0000305118" "00015744" "30" "5565" "0" "5565" "0" "c.5565C>T" "r.(?)" "p.(Ala1855=)" "" "0000305119" "00015744" "50" "5591" "0" "5591" "0" "c.5591A>G" "r.(?)" "p.(Gln1864Arg)" "" "0000305120" "00015744" "50" "593" "0" "593" "0" "c.593C>T" "r.(?)" "p.(Pro198Leu)" "" "0000305121" "00015744" "30" "876" "9" "876" "9" "c.876+9A>C" "r.(=)" "p.(=)" "" "0000321537" "00015744" "50" "5296" "0" "5304" "0" "c.5296_5304dup" "r.(?)" "p.(Ala1766_Pro1768dup)" "" "0000321538" "00015744" "50" "4024" "0" "4024" "0" "c.4024C>A" "r.(?)" "p.(Gln1342Lys)" "" "0000338393" "00015744" "10" "3984" "-20" "3984" "-20" "c.3984-20C>T" "r.(=)" "p.(=)" "" "0000338394" "00015744" "50" "3717" "5" "3717" "5" "c.3717+5G>A" "r.spl?" "p.?" "" "0000338397" "00015744" "90" "2868" "2" "2868" "2" "c.2868+2T>C" "r.spl?" "p.?" "" "0000338398" "00015744" "10" "706" "-8" "706" "-8" "c.706-8C>T" "r.(=)" "p.(=)" "" "0000338399" "00015744" "10" "157" "3" "157" "3" "c.157+3A>G" "r.spl?" "p.?" "" "0000341417" "00015744" "50" "1135" "0" "1135" "0" "c.1135G>T" "r.(?)" "p.(Ala379Ser)" "" "0000341966" "00015744" "50" "18221" "0" "18224" "0" "c.*12353_*12356del" "r.(=)" "p.(=)" "" "0000342395" "00015744" "90" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000343491" "00015744" "10" "2786" "0" "2786" "0" "c.2786G>A" "r.(?)" "p.(Arg929Gln)" "" "0000344544" "00015744" "30" "4024" "0" "4024" "0" "c.4024C>A" "r.(?)" "p.(Gln1342Lys)" "" "0000344581" "00015744" "70" "18387" "0" "18387" "0" "c.*12519C>T" "r.(=)" "p.(=)" "" "0000345661" "00015744" "50" "3521" "0" "3521" "0" "c.3521G>A" "r.(?)" "p.(Gly1174Asp)" "" "0000345702" "00015744" "50" "4036" "0" "4036" "0" "c.4036G>A" "r.(?)" "p.(Gly1346Arg)" "" "0000346744" "00015744" "50" "128" "0" "128" "0" "c.128T>C" "r.(?)" "p.(Ile43Thr)" "" "0000348246" "00015744" "10" "5359" "0" "5359" "0" "c.5359C>T" "r.(?)" "p.(Pro1787Ser)" "" "0000348357" "00015744" "50" "875" "0" "875" "0" "c.875C>T" "r.(?)" "p.(Pro292Leu)" "" "0000350222" "00015744" "90" "2922" "0" "2922" "0" "c.2922C>A" "r.(?)" "p.(Tyr974Ter)" "" "0000351284" "00015744" "90" "3374" "-2" "3374" "-2" "c.3374-2A>G" "r.spl?" "p.?" "" "0000358303" "00025927" "90" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000358303" "00015744" "90" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374256" "00025927" "11" "92" "-52" "92" "-52" "c.92-52T>G" "r.(?)" "p.(=)" "" "0000374256" "00015744" "11" "92" "-52" "92" "-52" "c.92-52T>G" "r.(=)" "p.(=)" "2i" "0000374257" "00025927" "11" "92" "-52" "92" "-52" "c.92-52T>G" "r.(?)" "p.(=)" "" "0000374257" "00015744" "11" "92" "-52" "92" "-52" "c.92-52T>G" "r.(=)" "p.(=)" "2i" "0000374258" "00025927" "11" "92" "-52" "92" "-52" "c.92-52T>G" "r.(?)" "p.(=)" "" "0000374258" "00015744" "11" "92" "-52" "92" "-52" "c.92-52T>G" "r.(=)" "p.(=)" "2i" "0000374259" "00025927" "11" "92" "-52" "92" "-52" "c.92-52T>G" "r.(?)" "p.(=)" "" "0000374259" "00015744" "11" "92" "-52" "92" "-52" "c.92-52T>G" "r.(=)" "p.(=)" "2i" "0000374260" "00025927" "11" "92" "-52" "92" "-52" "c.92-52T>G" "r.(?)" "p.(=)" "" "0000374260" "00015744" "11" "92" "-52" "92" "-52" "c.92-52T>G" "r.(=)" "p.(=)" "2i" "0000374261" "00025927" "11" "92" "-52" "92" "-52" "c.92-52T>G" "r.(?)" "p.(=)" "" "0000374261" "00015744" "11" "92" "-52" "92" "-52" "c.92-52T>G" "r.(=)" "p.(=)" "2i" "0000374262" "00025927" "11" "92" "-52" "92" "-52" "c.92-52T>G" "r.(?)" "p.(=)" "" "0000374262" "00015744" "11" "92" "-52" "92" "-52" "c.92-52T>G" "r.(=)" "p.(=)" "2i" "0000374266" "00025927" "11" "319" "-31" "319" "-31" "c.319-31T>C" "r.(?)" "p.(=)" "" "0000374266" "00015744" "11" "319" "-31" "319" "-31" "c.319-31T>C" "r.(=)" "p.(=)" "4i" "0000374267" "00025927" "11" "319" "-31" "319" "-31" "c.319-31T>C" "r.(?)" "p.(=)" "" "0000374267" "00015744" "11" "319" "-31" "319" "-31" "c.319-31T>C" "r.(=)" "p.(=)" "4i" "0000374268" "00025927" "11" "319" "-31" "319" "-31" "c.319-31T>C" "r.(?)" "p.(=)" "" "0000374268" "00015744" "11" "319" "-31" "319" "-31" "c.319-31T>C" "r.(=)" "p.(=)" "4i" "0000374269" "00025927" "11" "319" "-31" "319" "-31" "c.319-31T>C" "r.(?)" "p.(=)" "" "0000374269" "00015744" "11" "319" "-31" "319" "-31" "c.319-31T>C" "r.(=)" "p.(=)" "4i" "0000374270" "00025927" "11" "319" "-31" "319" "-31" "c.319-31T>C" "r.(?)" "p.(=)" "" "0000374270" "00015744" "11" "319" "-31" "319" "-31" "c.319-31T>C" "r.(=)" "p.(=)" "4i" "0000374271" "00025927" "75" "1583" "0" "1583" "0" "c.1583T>A" "r.(?)" "p.(Val528Asp)" "" "0000374271" "00015744" "75" "1583" "0" "1583" "0" "c.1583T>A" "r.(?)" "p.(Val528Asp)" "13" "0000374272" "00025927" "75" "1583" "0" "1583" "0" "c.1583T>A" "r.(?)" "p.(Val528Asp)" "" "0000374272" "00015744" "75" "1583" "0" "1583" "0" "c.1583T>A" "r.(?)" "p.(Val528Asp)" "13" "0000374273" "00025927" "75" "1583" "0" "1583" "0" "c.1583T>A" "r.(?)" "p.(Val528Asp)" "" "0000374273" "00015744" "75" "1583" "0" "1583" "0" "c.1583T>A" "r.(?)" "p.(Val528Asp)" "13" "0000374274" "00025927" "75" "1583" "0" "1583" "0" "c.1583T>A" "r.(?)" "p.(Val528Asp)" "" "0000374274" "00015744" "75" "1583" "0" "1583" "0" "c.1583T>A" "r.(?)" "p.(Val528Asp)" "13" "0000374275" "00025927" "75" "1583" "0" "1583" "0" "c.1583T>A" "r.(?)" "p.(Val528Asp)" "" "0000374275" "00015744" "75" "1583" "0" "1583" "0" "c.1583T>A" "r.(?)" "p.(Val528Asp)" "13" "0000374276" "00025927" "75" "1583" "0" "1583" "0" "c.1583T>A" "r.(?)" "p.(Val528Asp)" "" "0000374276" "00015744" "75" "1583" "0" "1583" "0" "c.1583T>A" "r.(?)" "p.(Val528Asp)" "13" "0000374279" "00025927" "11" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "" "0000374279" "00015744" "11" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "2" "0000374280" "00025927" "11" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "" "0000374280" "00015744" "11" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "2" "0000374281" "00025927" "11" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "" "0000374281" "00015744" "11" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "2" "0000374282" "00025927" "11" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "" "0000374282" "00015744" "11" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "2" "0000374283" "00025927" "11" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "" "0000374283" "00015744" "11" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "2" "0000374284" "00025927" "11" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "" "0000374284" "00015744" "11" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "2" "0000374285" "00025927" "11" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "" "0000374285" "00015744" "11" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "2" "0000374286" "00025927" "11" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "" "0000374286" "00015744" "11" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "2" "0000374287" "00025927" "11" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "" "0000374287" "00015744" "11" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "2" "0000374288" "00025927" "11" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "" "0000374288" "00015744" "11" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "2" "0000374289" "00025927" "11" "3718" "-19" "3718" "-19" "c.3718-19C>A" "r.(?)" "p.(=)" "" "0000374289" "00015744" "11" "3718" "-19" "3718" "-19" "c.3718-19C>A" "r.(=)" "p.(=)" "27i" "0000374290" "00025927" "11" "3718" "-19" "3718" "-19" "c.3718-19C>A" "r.(?)" "p.(=)" "" "0000374290" "00015744" "11" "3718" "-19" "3718" "-19" "c.3718-19C>A" "r.(=)" "p.(=)" "27i" "0000374291" "00025927" "11" "3718" "-19" "3718" "-19" "c.3718-19C>A" "r.(?)" "p.(=)" "" "0000374291" "00015744" "11" "3718" "-19" "3718" "-19" "c.3718-19C>A" "r.(=)" "p.(=)" "27i" "0000374292" "00025927" "11" "3718" "-19" "3718" "-19" "c.3718-19C>A" "r.(?)" "p.(=)" "" "0000374292" "00015744" "11" "3718" "-19" "3718" "-19" "c.3718-19C>A" "r.(=)" "p.(=)" "27i" "0000374293" "00025927" "11" "3718" "-19" "3718" "-19" "c.3718-19C>A" "r.(?)" "p.(=)" "" "0000374293" "00015744" "11" "3718" "-19" "3718" "-19" "c.3718-19C>A" "r.(=)" "p.(=)" "27i" "0000374294" "00025927" "11" "3018" "0" "3018" "0" "c.3018G>T" "r.(?)" "p.(Val1006=)" "" "0000374294" "00015744" "11" "3018" "0" "3018" "0" "c.3018G>T" "r.(?)" "p.(=)" "23" "0000374295" "00025927" "11" "3018" "0" "3018" "0" "c.3018G>T" "r.(?)" "p.(Val1006=)" "" "0000374295" "00015744" "11" "3018" "0" "3018" "0" "c.3018G>T" "r.(?)" "p.(=)" "23" "0000374296" "00025927" "11" "3018" "0" "3018" "0" "c.3018G>T" "r.(?)" "p.(Val1006=)" "" "0000374296" "00015744" "11" "3018" "0" "3018" "0" "c.3018G>T" "r.(?)" 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"p.(Arg245Ter)" "" "0000374623" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374624" "00025927" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000374624" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374625" "00025927" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000374625" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374626" "00025927" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000374626" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374627" "00025927" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000374627" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374628" "00025927" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000374628" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374629" "00025927" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000374629" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374630" "00025927" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000374630" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374631" "00025927" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000374631" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374632" "00025927" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000374632" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374633" "00025927" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000374633" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374634" "00025927" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000374634" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374635" "00025927" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000374635" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374636" "00025927" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000374636" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374637" "00025927" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000374637" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374638" "00025927" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000374638" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374639" "00025927" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000374639" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374640" "00025927" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000374640" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374641" "00025927" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000374641" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374642" "00025927" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000374642" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374643" "00025927" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000374643" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374644" "00025927" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000374644" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374645" "00025927" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000374645" "00015744" "99" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "8" "0000374646" "00025927" "35" "1483" "0" "1483" "0" "c.1483G>A" "r.(?)" "p.(Val495Ile)" "" "0000374646" "00015744" "35" "1483" "0" "1483" "0" "c.1483G>A" "r.(?)" "p.(Val495Ile)" "13" "0000374647" "00025927" "11" "4368" "-2646" "4368" "-2646" "c.4368-2646A>G" "r.(?)" "p.(=)" "" "0000374647" "00015744" "11" "4850" "0" "4850" "0" "c.4850A>G" "r.(?)" "p.(Asn1617Ser)" "33" "0000374648" "00025927" "11" "4368" "-2646" "4368" "-2646" "c.4368-2646A>G" "r.(?)" "p.(=)" "" "0000374648" "00015744" "11" "4850" "0" "4850" "0" "c.4850A>G" "r.(?)" "p.(Asn1617Ser)" "33" "0000374649" "00025927" "11" "4368" "-2646" "4368" "-2646" "c.4368-2646A>G" "r.(?)" "p.(=)" "" "0000374649" "00015744" "11" "4850" "0" "4850" "0" "c.4850A>G" "r.(?)" "p.(Asn1617Ser)" "33" "0000374650" "00025927" "11" "4368" "-2646" "4368" "-2646" "c.4368-2646A>G" "r.(?)" "p.(=)" "" "0000374650" "00015744" "11" "4850" "0" "4850" "0" "c.4850A>G" "r.(?)" "p.(Asn1617Ser)" "33" "0000374651" "00025927" "11" "4368" "-2646" "4368" "-2646" "c.4368-2646A>G" "r.(?)" "p.(=)" "" "0000374651" "00015744" "11" "4850" "0" "4850" "0" "c.4850A>G" "r.(?)" "p.(Asn1617Ser)" "33" "0000374652" "00025927" "35" "521" "0" "521" "0" "c.521A>G" "r.(?)" "p.(Asn174Ser)" "" "0000374652" "00015744" "35" "521" "0" "521" "0" "c.521A>G" "r.(?)" "p.(Asn174Ser)" "6" "0000374653" "00025927" "35" "3817" "0" "3817" "0" "c.3817C>A" "r.(?)" "p.(Arg1273Ser)" "" "0000374653" "00015744" "35" "3817" "0" "3817" "0" "c.3817C>A" "r.(?)" "p.(Arg1273Ser)" "29" "0000374654" "00025927" "35" "3817" "0" "3817" "0" "c.3817C>A" "r.(?)" "p.(Arg1273Ser)" "" "0000374654" "00015744" "35" "3817" "0" "3817" "0" "c.3817C>A" "r.(?)" "p.(Arg1273Ser)" "29" "0000374655" "00025927" "35" "3817" "0" "3817" "0" "c.3817C>A" "r.(?)" "p.(Arg1273Ser)" "" "0000374655" "00015744" "35" "3817" "0" "3817" "0" "c.3817C>A" "r.(?)" "p.(Arg1273Ser)" "29" "0000374656" "00025927" "75" "3076" "0" "3076" "0" "c.3076G>C" "r.(?)" "p.(Val1026Leu)" "" "0000374656" "00015744" "75" "3076" "0" "3076" "0" "c.3076G>C" "r.(?)" "p.(Val1026Leu)" "23" "0000374657" "00025927" "75" "401" "0" "401" "0" "c.401G>A" "r.(?)" "p.(Arg134Gln)" "" "0000374657" "00015744" "75" "401" "0" "401" "0" "c.401G>A" "r.(?)" "p.(Arg134Gln)" "5" "0000374658" "00025927" "99" "2782" "0" "2782" "0" "c.2782A>T" "r.(?)" "p.(Lys928Ter)" "" "0000374658" "00015744" "99" "2782" "0" "2782" "0" "c.2782A>T" "r.(?)" "p.(Lys928*)" "21" "0000374660" "00025927" "75" "4291" "0" "4291" "0" "c.4291C>T" "r.(?)" "p.(Pro1431Ser)" "" "0000374660" "00015744" "75" "4291" "0" "4291" "0" "c.4291C>T" "r.(?)" "p.(Pro1431Ser)" "32" "0000374661" "00025927" "75" "4301" "0" "4301" "0" "c.4301C>T" "r.(?)" "p.(Ala1434Val)" "" "0000374661" "00015744" "75" "4301" "0" "4301" "0" "c.4301C>T" "r.(?)" "p.(Ala1434Val)" "32" "0000374662" "00025927" "75" "4301" "0" "4301" "0" "c.4301C>T" "r.(?)" "p.(Ala1434Val)" "" "0000374662" "00015744" "75" "4301" "0" "4301" "0" "c.4301C>T" "r.(?)" "p.(Ala1434Val)" "32" "0000374664" "00025927" "75" "4328" "0" "4328" "0" "c.4328C>T" "r.(?)" "p.(Pro1443Leu)" "" "0000374664" "00015744" "75" "4328" "0" "4328" "0" "c.4328C>T" "r.(?)" "p.(Pro1443Leu)" "32" "0000374665" "00025927" "75" "4328" "0" "4328" "0" "c.4328C>T" "r.(?)" "p.(Pro1443Leu)" "" "0000374665" "00015744" "75" "4328" "0" "4328" "0" "c.4328C>T" "r.(?)" "p.(Pro1443Leu)" "32" "0000374666" "00025927" "99" "1737" "0" "1737" "0" "c.1737C>G" "r.(?)" "p.(Tyr579Ter)" "" "0000374666" "00015744" "99" "1737" "0" "1737" "0" "c.1737C>G" "r.(?)" "p.(Tyr579*)" "14" "0000374667" "00025927" "73" "2868" "5" "2868" "5" "c.2868+5G>A" "r.spl?" "p.?" "" "0000374667" "00015744" "73" "2868" "5" "2868" "5" "c.2868+5G>A" "r.(?)" "p.(?)" "21i" "0000374668" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374668" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374669" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374669" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374670" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374670" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374671" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374671" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374672" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374672" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374673" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374673" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374674" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374674" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374675" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374675" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374676" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374676" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374677" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374677" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374678" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374678" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374679" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374679" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374680" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374680" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374681" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374681" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374682" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374682" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374683" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374683" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374684" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374684" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374685" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374685" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374686" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374686" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374687" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374687" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374688" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374688" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374689" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374689" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374690" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374690" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374691" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374691" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374692" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374692" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374693" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374693" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374694" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374694" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374695" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374695" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374696" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374696" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374697" "00025927" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000374697" "00015744" "99" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3*)" "2" "0000374700" "00025927" "99" "4323" "0" "4328" "0" "c.4323_4328del" "r.(?)" "p.(Pro1442_Pro1443del)" "" "0000374700" "00015744" "99" "4323" "0" "4328" "0" "c.4323_4328del" "r.(?)" "p.(Pro1442_Pro1443del)" "32" "0000374701" "00025927" "11" "4368" "-1939" "4368" "-1939" "c.4368-1939A>C" "r.(?)" "p.(=)" "" "0000374701" "00015744" "11" "5557" "0" "5557" "0" "c.5557A>C" "r.(?)" "p.(Met1853Leu)" "33" "0000374702" "00025927" "99" "3718" "-2" "3718" "-2" "c.3718-2A>G" "r.spl" "p.?" "" "0000374702" "00015744" "99" "3718" "-2" "3718" "-2" "c.3718-2A>G" "r.(?)" "p.(?)" "27i" "0000374703" "00025927" "99" "3718" "-2" "3718" "-2" "c.3718-2A>G" "r.spl" "p.?" "" "0000374703" "00015744" "99" "3718" "-2" "3718" "-2" "c.3718-2A>G" "r.(?)" "p.(?)" "27i" "0000374704" "00025927" "99" "3718" "-2" "3718" "-2" "c.3718-2A>G" "r.spl" "p.?" "" "0000374704" "00015744" "99" "3718" "-2" "3718" "-2" "c.3718-2A>G" "r.(?)" "p.(?)" "27i" "0000374705" "00025927" "99" "3718" "-2" "3718" "-2" "c.3718-2A>G" "r.spl" "p.?" "" "0000374705" "00015744" "99" "3718" "-2" "3718" "-2" "c.3718-2A>G" "r.(?)" "p.(?)" "27i" "0000374706" "00025927" "99" "3718" "-2" "3718" "-2" "c.3718-2A>G" "r.spl" "p.?" "" "0000374706" "00015744" "99" "3718" "-2" "3718" "-2" "c.3718-2A>G" "r.(?)" "p.(?)" "27i" "0000374707" "00025927" "99" "3718" "-2" "3718" "-2" "c.3718-2A>G" "r.spl" "p.?" "" "0000374707" "00015744" "99" "3718" "-2" "3718" "-2" "c.3718-2A>G" "r.(?)" "p.(?)" "27i" "0000374708" "00025927" "99" "3718" "-2" "3718" "-2" "c.3718-2A>G" "r.spl" "p.?" "" "0000374708" "00015744" "99" "3718" "-2" "3718" "-2" "c.3718-2A>G" "r.(?)" "p.(?)" "27i" "0000374709" "00025927" "99" "3718" "-2" "3718" "-2" "c.3718-2A>G" "r.spl" "p.?" "" "0000374709" "00015744" "99" "3718" "-2" "3718" "-2" "c.3718-2A>G" "r.(?)" "p.(?)" "27i" "0000374710" "00025927" "99" "3718" "-2" "3718" "-2" "c.3718-2A>G" "r.spl" "p.?" "" "0000374710" "00015744" "99" "3718" "-2" "3718" "-2" "c.3718-2A>G" "r.(?)" "p.(?)" "27i" "0000374711" "00025927" "99" "3718" "-2" "3718" "-2" "c.3718-2A>G" "r.spl" "p.?" "" "0000374711" "00015744" "99" "3718" "-2" "3718" "-2" "c.3718-2A>G" "r.(?)" "p.(?)" "27i" "0000374712" "00025927" "99" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Gly262Asp)" "" "0000374712" "00015744" "99" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Gly262Asp)" "8" "0000374713" "00025927" "99" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Gly262Asp)" "" "0000374713" "00015744" "99" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Gly262Asp)" "8" "0000374714" "00025927" "99" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Gly262Asp)" "" "0000374714" "00015744" "99" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Gly262Asp)" "8" "0000374715" "00025927" "99" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Gly262Asp)" "" "0000374715" "00015744" "99" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Gly262Asp)" "8" "0000374716" "00025927" "99" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Gly262Asp)" "" "0000374716" "00015744" "99" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Gly262Asp)" "8" "0000374717" "00025927" "99" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Gly262Asp)" "" "0000374717" "00015744" "99" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Gly262Asp)" "8" "0000374718" "00025927" "99" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Gly262Asp)" "" "0000374718" "00015744" "99" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Gly262Asp)" "8" "0000374719" "00025927" "99" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Gly262Asp)" "" "0000374719" "00015744" "99" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Gly262Asp)" "8" "0000374720" "00025927" "99" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Gly262Asp)" "" "0000374720" "00015744" "99" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Gly262Asp)" "8" "0000374721" "00025927" "99" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Gly262Asp)" "" "0000374721" "00015744" "99" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Gly262Asp)" "8" "0000374722" "00025927" "99" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "" "0000374722" "00015744" "99" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "5" "0000374723" "00025927" "99" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "" "0000374723" "00015744" "99" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "5" "0000374724" "00025927" "99" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "" "0000374724" "00015744" "99" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "5" "0000374725" "00025927" "99" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "" "0000374725" "00015744" "99" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "5" "0000374726" "00025927" "99" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "" "0000374726" "00015744" "99" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "5" "0000374727" "00025927" "99" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "" "0000374727" "00015744" "99" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "5" "0000374728" "00025927" "95" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "" "0000374728" "00015744" "95" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "5" "0000374729" "00025927" "95" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "" "0000374729" "00015744" "95" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "5" "0000374730" "00025927" "99" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "" "0000374730" "00015744" "99" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "5" "0000374731" "00025927" "95" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "" "0000374731" "00015744" "95" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "5" "0000374732" "00025927" "95" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "" "0000374732" "00015744" "95" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "5" "0000374733" "00025927" "99" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "" "0000374733" "00015744" "99" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "5" "0000374734" "00025927" "75" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "" "0000374734" "00015744" "75" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "5" "0000374735" "00025927" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.spl" "p.?" "" "0000374735" "00015744" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.(?)" "p.(?)" "27i" "0000374736" "00025927" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.spl" "p.?" "" "0000374736" "00015744" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.(?)" "p.(?)" "27i" "0000374737" "00025927" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.spl" "p.?" "" "0000374737" "00015744" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.(?)" "p.(?)" "27i" "0000374738" "00025927" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.spl" "p.?" "" "0000374738" "00015744" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.(?)" "p.(?)" "27i" "0000374739" "00025927" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.spl" "p.?" "" "0000374739" "00015744" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.(?)" "p.(?)" "27i" "0000374740" "00025927" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.spl" "p.?" "" "0000374740" "00015744" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.(?)" "p.(?)" "27i" "0000374741" "00025927" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.spl" "p.?" "" "0000374741" "00015744" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.(?)" "p.(?)" "27i" "0000374742" "00025927" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.spl" "p.?" "" "0000374742" "00015744" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.(?)" "p.(?)" "27i" "0000374743" "00025927" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.spl" "p.?" "" "0000374743" "00015744" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.(?)" "p.(?)" "27i" "0000374744" "00025927" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.spl" "p.?" "" "0000374744" "00015744" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.(?)" "p.(?)" "27i" "0000374745" "00025927" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.spl" "p.?" "" "0000374745" "00015744" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.(?)" "p.(?)" "27i" "0000374746" "00025927" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.spl" "p.?" "" "0000374746" "00015744" "99" "3717" "1" "3717" "1" "c.3717+1G>T" "r.(?)" "p.(?)" "27i" "0000374747" "00025927" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419PhefsTer49)" "" "0000374747" "00015744" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419Phefs*64)" "32" "0000374748" "00025927" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419PhefsTer49)" "" "0000374748" "00015744" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419Phefs*64)" "32" "0000374749" "00025927" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419PhefsTer49)" "" "0000374749" "00015744" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419Phefs*64)" "32" "0000374750" "00025927" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419PhefsTer49)" "" "0000374750" "00015744" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419Phefs*64)" "32" "0000374751" "00025927" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419PhefsTer49)" "" "0000374751" "00015744" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419Phefs*64)" "32" "0000374752" "00025927" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419PhefsTer49)" "" "0000374752" "00015744" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419Phefs*64)" "32" "0000374753" "00025927" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419PhefsTer49)" "" "0000374753" "00015744" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419Phefs*64)" "32" "0000374754" "00025927" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419PhefsTer49)" "" "0000374754" "00015744" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419Phefs*64)" "32" "0000374755" "00025927" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419PhefsTer49)" "" "0000374755" "00015744" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419Phefs*64)" "32" "0000374756" "00025927" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419PhefsTer49)" "" "0000374756" "00015744" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419Phefs*64)" "32" "0000374757" "00025927" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419PhefsTer49)" "" "0000374757" "00015744" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419Phefs*64)" "32" "0000374758" "00025927" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419PhefsTer49)" "" "0000374758" "00015744" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419Phefs*64)" "32" "0000374759" "00025927" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419PhefsTer49)" "" "0000374759" "00015744" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419Phefs*64)" "32" "0000374760" "00025927" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419PhefsTer49)" "" "0000374760" "00015744" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419Phefs*64)" "32" "0000374761" "00025927" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419PhefsTer49)" "" "0000374761" "00015744" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419Phefs*64)" "32" "0000374762" "00025927" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419PhefsTer49)" "" "0000374762" "00015744" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419Phefs*64)" "32" "0000374763" "00025927" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419PhefsTer49)" "" "0000374763" "00015744" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419Phefs*64)" "32" "0000374764" "00025927" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419PhefsTer49)" "" "0000374764" "00015744" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419Phefs*64)" "32" "0000374765" "00025927" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419PhefsTer49)" "" "0000374765" "00015744" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419Phefs*64)" "32" "0000374766" "00025927" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419PhefsTer49)" "" "0000374766" "00015744" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419Phefs*64)" "32" "0000374767" "00025927" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419PhefsTer49)" "" "0000374767" "00015744" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419Phefs*64)" "32" "0000374768" "00025927" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419PhefsTer49)" "" "0000374768" "00015744" "99" "4257" "0" "4257" "0" "c.4257del" "r.(?)" "p.(Leu1419Phefs*64)" "32" "0000374769" "00025927" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684Ter)" "" "0000374769" "00015744" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684*)" "17" "0000374770" "00025927" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684Ter)" "" "0000374770" "00015744" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684*)" "17" "0000374771" "00025927" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684Ter)" "" "0000374771" "00015744" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684*)" "17" "0000374772" "00025927" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684Ter)" "" "0000374772" "00015744" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684*)" "17" "0000374773" "00025927" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684Ter)" "" "0000374773" "00015744" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684*)" "17" "0000374774" "00025927" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684Ter)" "" "0000374774" "00015744" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684*)" "17" "0000374775" "00025927" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684Ter)" "" "0000374775" "00015744" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684*)" "17" "0000374776" "00025927" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684Ter)" "" "0000374776" "00015744" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684*)" "17" "0000374777" "00025927" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684Ter)" "" "0000374777" "00015744" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684*)" "17" "0000374778" "00025927" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684Ter)" "" "0000374778" "00015744" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684*)" "17" "0000374779" "00025927" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684Ter)" "" "0000374779" "00015744" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684*)" "17" "0000374780" "00025927" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684Ter)" "" "0000374780" "00015744" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684*)" "17" "0000374781" "00025927" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684Ter)" "" "0000374781" "00015744" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684*)" "17" "0000374782" "00025927" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684Ter)" "" "0000374782" "00015744" "99" "2052" "0" "2052" "0" "c.2052C>A" "r.(?)" "p.(Tyr684*)" "17" "0000374783" "00025927" "99" "1940" "0" "1940" "0" "c.1940C>G" "r.(?)" "p.(Ser647Ter)" "" "0000374783" "00015744" "99" "1940" "0" "1940" "0" "c.1940C>G" "r.(?)" "p.(Ser647*)" "16" "0000374784" "00025927" "99" "1940" "0" "1940" "0" "c.1940C>G" "r.(?)" "p.(Ser647Ter)" "" "0000374784" "00015744" "99" "1940" "0" "1940" "0" "c.1940C>G" "r.(?)" "p.(Ser647*)" "16" "0000374785" "00025927" "99" "1940" "0" "1940" "0" "c.1940C>G" "r.(?)" "p.(Ser647Ter)" "" "0000374785" "00015744" "99" "1940" "0" "1940" "0" "c.1940C>G" "r.(?)" "p.(Ser647*)" "16" "0000374786" "00025927" "99" "1940" "0" "1940" "0" "c.1940C>G" "r.(?)" "p.(Ser647Ter)" "" "0000374786" "00015744" "99" "1940" "0" "1940" "0" "c.1940C>G" "r.(?)" "p.(Ser647*)" "16" "0000374787" "00025927" "99" "1940" "0" "1940" "0" "c.1940C>G" "r.(?)" "p.(Ser647Ter)" "" "0000374787" "00015744" "99" "1940" "0" "1940" "0" "c.1940C>G" "r.(?)" "p.(Ser647*)" "16" "0000374788" "00025927" "99" "1940" "0" "1940" "0" "c.1940C>G" "r.(?)" "p.(Ser647Ter)" "" "0000374788" "00015744" "99" "1940" "0" "1940" "0" "c.1940C>G" "r.(?)" "p.(Ser647*)" "16" "0000374789" "00025927" "95" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asp178Gly)" "" "0000374789" "00015744" "95" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asp178Gly)" "6" "0000374790" "00025927" "95" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asp178Gly)" "" "0000374790" "00015744" "95" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asp178Gly)" "6" "0000374791" "00025927" "95" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asp178Gly)" "" "0000374791" "00015744" "95" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asp178Gly)" "6" "0000374792" "00025927" "95" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asp178Gly)" "" "0000374792" "00015744" "95" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asp178Gly)" "6" "0000374793" "00025927" "95" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asp178Gly)" "" "0000374793" "00015744" "95" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asp178Gly)" "6" "0000374794" "00025927" "95" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asp178Gly)" "" "0000374794" "00015744" "95" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asp178Gly)" "6" "0000374795" "00025927" "95" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asp178Gly)" "" "0000374795" "00015744" "95" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asp178Gly)" "6" "0000374796" "00025927" "95" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asp178Gly)" "" "0000374796" "00015744" "95" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asp178Gly)" "6" "0000374797" "00025927" "95" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asp178Gly)" "" "0000374797" "00015744" "95" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asp178Gly)" "6" "0000374798" "00025927" "95" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asp178Gly)" "" "0000374798" "00015744" "95" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asp178Gly)" "6" "0000374799" "00025927" "99" "2484" "0" "2484" "0" "c.2484del" "r.(?)" "p.(Glu829LysfsTer13)" "" "0000374799" "00015744" "99" "2484" "0" "2484" "0" "c.2484del" "r.(?)" "p.(Glu829Lysfs*13)" "19" "0000374800" "00025927" "99" "2484" "0" "2484" "0" "c.2484del" "r.(?)" "p.(Glu829LysfsTer13)" "" "0000374800" "00015744" "99" "2484" "0" "2484" "0" "c.2484del" "r.(?)" "p.(Glu829Lysfs*13)" "19" "0000374801" "00025927" "99" "2484" "0" "2484" "0" "c.2484del" "r.(?)" "p.(Glu829LysfsTer13)" "" "0000374801" "00015744" "99" "2484" "0" "2484" "0" "c.2484del" "r.(?)" "p.(Glu829Lysfs*13)" "19" "0000374802" "00025927" "99" "2484" "0" "2484" "0" "c.2484del" "r.(?)" "p.(Glu829LysfsTer13)" "" "0000374802" "00015744" "99" "2484" "0" "2484" "0" "c.2484del" "r.(?)" "p.(Glu829Lysfs*13)" "19" "0000374803" "00025927" "99" "2484" "0" "2484" "0" "c.2484del" "r.(?)" "p.(Glu829LysfsTer13)" "" "0000374803" "00015744" "99" "2484" "0" "2484" "0" "c.2484del" "r.(?)" "p.(Glu829Lysfs*13)" "19" "0000374804" "00025927" "99" "2484" "0" "2484" "0" "c.2484del" "r.(?)" "p.(Glu829LysfsTer13)" "" "0000374804" "00015744" "99" "2484" "0" "2484" "0" "c.2484del" "r.(?)" "p.(Glu829Lysfs*13)" "19" "0000374805" "00025927" "99" "2484" "0" "2484" "0" "c.2484del" "r.(?)" "p.(Glu829LysfsTer13)" "" "0000374805" "00015744" "99" "2484" "0" "2484" "0" "c.2484del" "r.(?)" "p.(Glu829Lysfs*13)" "19" "0000374806" "00025927" "99" "2484" "0" "2484" "0" "c.2484del" "r.(?)" "p.(Glu829LysfsTer13)" "" "0000374806" "00015744" "99" "2484" "0" "2484" "0" "c.2484del" "r.(?)" "p.(Glu829Lysfs*13)" "19" "0000374807" "00025927" "99" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Leu363TrpfsTer58)" "" "0000374807" "00015744" "99" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Leu363Trpfs*58)" "10" "0000374808" "00025927" "99" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Leu363TrpfsTer58)" "" "0000374808" "00015744" "99" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Leu363Trpfs*58)" "10" "0000374809" "00025927" "99" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Leu363TrpfsTer58)" "" "0000374809" "00015744" "99" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Leu363Trpfs*58)" "10" "0000374810" "00025927" "99" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Leu363TrpfsTer58)" "" "0000374810" "00015744" "99" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Leu363Trpfs*58)" "10" "0000374811" "00025927" "99" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Leu363TrpfsTer58)" "" "0000374811" "00015744" "99" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Leu363Trpfs*58)" "10" "0000374812" "00025927" "99" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Leu363TrpfsTer58)" "" "0000374812" "00015744" "99" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Leu363Trpfs*58)" "10" "0000374813" "00025927" "99" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Leu363TrpfsTer58)" "" "0000374813" "00015744" "99" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Leu363Trpfs*58)" "10" "0000374814" "00025927" "99" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Leu363TrpfsTer58)" "" "0000374814" "00015744" "99" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Leu363Trpfs*58)" "10" "0000374815" "00025927" "99" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Leu363TrpfsTer58)" "" "0000374815" "00015744" "99" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Leu363Trpfs*58)" "10" "0000374816" "00025927" "99" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Leu363TrpfsTer58)" "" "0000374816" "00015744" "99" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Leu363Trpfs*58)" "10" "0000374817" "00025927" "99" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Leu363TrpfsTer58)" "" "0000374817" "00015744" "99" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Leu363Trpfs*58)" "10" "0000374818" "00025927" "15" "4368" "-1895" "4368" "-1893" "c.4368-1895_4368-1893del" "r.(?)" "p.(=)" "" "0000374818" "00015744" "15" "5601" "0" "5603" "0" "c.5601_5603del" "r.(?)" "p.(Thr1869del)" "33" "0000374819" "00025927" "15" "4368" "-1895" "4368" "-1893" "c.4368-1895_4368-1893del" "r.(?)" "p.(=)" "" "0000374819" "00015744" "15" "5601" "0" "5603" "0" "c.5601_5603del" "r.(?)" "p.(Thr1869del)" "33" "0000374820" "00025927" "15" "4368" "-1895" "4368" "-1893" "c.4368-1895_4368-1893del" "r.(?)" "p.(=)" "" "0000374820" "00015744" "15" "5601" "0" "5603" "0" "c.5601_5603del" "r.(?)" "p.(Thr1869del)" "33" "0000374821" "00025927" "15" "4368" "-1895" "4368" "-1893" "c.4368-1895_4368-1893del" "r.(?)" "p.(=)" "" "0000374821" "00015744" "15" "5601" "0" "5603" "0" "c.5601_5603del" "r.(?)" "p.(Thr1869del)" "33" "0000374822" "00025927" "15" "4368" "-1895" "4368" "-1893" "c.4368-1895_4368-1893del" "r.(?)" "p.(=)" "" "0000374822" "00015744" "15" "5601" "0" "5603" "0" "c.5601_5603del" "r.(?)" "p.(Thr1869del)" "33" "0000374823" "00025927" "15" "4368" "-1895" "4368" "-1893" "c.4368-1895_4368-1893del" "r.(?)" "p.(=)" "" "0000374823" "00015744" "15" "5601" "0" "5603" "0" "c.5601_5603del" "r.(?)" "p.(Thr1869del)" "33" "0000374824" "00025927" "35" "4024" "0" "4024" "0" "c.4024C>A" "r.(?)" "p.(Gln1342Lys)" "" "0000374824" "00015744" "35" "4024" "0" "4024" "0" "c.4024C>A" "r.(?)" "p.(Gln1342Lys)" "30" "0000374825" "00025927" "99" "2785" "0" "2785" "0" "c.2785C>T" "r.(?)" "p.(Arg929Ter)" "" "0000374825" "00015744" "99" "2785" "0" "2785" "0" "c.2785C>T" "r.(?)" "p.(Arg929*)" "21" "0000374826" "00025927" "99" "996" "0" "999" "0" "c.996_999del" "r.(?)" "p.(Glu332AspfsTer21)" "" "0000374826" "00015744" "99" "996" "0" "999" "0" "c.996_999del" "r.(?)" "p.(Glu332Aspfs*21)" "10" "0000374827" "00025927" "99" "16" "0" "16" "0" "c.16del" "r.(?)" "p.(Tyr6IlefsTer6)" "" "0000374827" "00015744" "99" "16" "0" "16" "0" "c.16del" "r.(?)" "p.(Tyr6Ilefs*6)" "2" "0000374828" "00025927" "11" "157" "3" "157" "3" "c.157+3A>G" "r.spl?" "p.?" "" "0000374828" "00015744" "11" "157" "3" "157" "3" "c.157+3A>G" "r.(=)" "p.(=)" "3i" "0000374829" "00025927" "11" "157" "3" "157" "3" "c.157+3A>G" "r.spl?" "p.?" "" "0000374829" "00015744" "11" "157" "3" "157" "3" "c.157+3A>G" "r.(=)" "p.(=)" "3i" "0000374830" "00025927" "11" "157" "3" "157" "3" "c.157+3A>G" "r.spl?" "p.?" "" "0000374830" "00015744" "11" "157" "3" "157" "3" "c.157+3A>G" "r.(=)" "p.(=)" "3i" "0000374833" "00025927" "11" "903" "0" "903" "0" "c.903G>A" "r.(?)" "p.(Thr301=)" "" "0000374833" "00015744" "11" "903" "0" "903" "0" "c.903G>A" "r.(?)" "p.(=)" "9" "0000374834" "00025927" "11" "903" "0" "903" "0" "c.903G>A" "r.(?)" "p.(Thr301=)" "" "0000374834" "00015744" "11" "903" "0" "903" "0" "c.903G>A" "r.(?)" "p.(=)" "9" "0000374835" "00025927" "11" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "" "0000374835" "00015744" "11" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "11" "0000374836" "00025927" "11" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "" "0000374836" "00015744" "11" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "11" "0000374837" "00025927" "11" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "" "0000374837" "00015744" "11" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "11" "0000374838" "00025927" "11" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "" "0000374838" "00015744" "11" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "11" "0000374839" "00025927" "11" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "" "0000374839" "00015744" "11" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "11" "0000374840" "00025927" "11" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "" "0000374840" "00015744" "11" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "11" "0000374841" "00025927" "11" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "" "0000374841" "00015744" "11" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "11" "0000374842" "00025927" "11" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "" "0000374842" "00015744" "11" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "11" "0000374843" "00025927" "11" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "" "0000374843" "00015744" "11" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "11" "0000374844" "00025927" "11" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "" "0000374844" "00015744" "11" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "11" "0000374845" "00025927" "11" "1917" "33" "1917" "33" "c.1917+33dup" "r.(?)" "p.(=)" "" "0000374845" "00015744" "11" "1917" "33" "1917" "33" "c.1917+33dup" "r.(=)" "p.(=)" "15i" "0000374846" "00025927" "11" "1917" "33" "1917" "33" "c.1917+33dup" "r.(?)" "p.(=)" "" "0000374846" "00015744" "11" "1917" "33" "1917" "33" "c.1917+33dup" "r.(=)" "p.(=)" "15i" "0000374847" "00025927" "11" "2221" "-34" "2221" "-34" "c.2221-34G>A" "r.(?)" "p.(=)" "" "0000374847" "00015744" "11" "2221" "-34" "2221" "-34" "c.2221-34G>A" "r.(=)" "p.(=)" "18i" "0000374848" "00025927" "11" "2221" "-34" "2221" "-34" "c.2221-34G>A" "r.(?)" "p.(=)" "" "0000374848" "00015744" "11" "2221" "-34" "2221" "-34" "c.2221-34G>A" "r.(=)" "p.(=)" "18i" "0000374851" "00025927" "11" "2751" "43" "2751" "43" "c.2751+43C>G" "r.(?)" "p.(=)" "" "0000374851" "00015744" "11" "2751" "43" "2751" "43" "c.2751+43C>G" "r.(=)" "p.(=)" "20i" "0000374852" "00025927" "11" "2751" "43" "2751" "43" "c.2751+43C>G" "r.(?)" "p.(=)" "" "0000374852" "00015744" "11" "2751" "43" "2751" "43" "c.2751+43C>G" "r.(=)" "p.(=)" "20i" "0000374855" "00025927" "99" "3316" "0" "3316" "0" "c.3316C>T" "r.(?)" "p.(Arg1106Ter)" "" "0000374855" "00015744" "99" "3316" "0" "3316" "0" "c.3316C>T" "r.(?)" "p.(Arg1106*)" "25" "0000374856" "00025927" "99" "3316" "0" "3316" "0" "c.3316C>T" "r.(?)" "p.(Arg1106Ter)" "" "0000374856" "00015744" "99" "3316" "0" "3316" "0" "c.3316C>T" "r.(?)" "p.(Arg1106*)" "25" "0000374858" "00025927" "11" "705" "133" "705" "133" "c.705+133T>C" "r.(?)" "p.(=)" "" "0000374858" "00015744" "11" "705" "133" "705" "133" "c.705+133T>C" "r.(=)" "p.(=)" "7i" "0000374859" "00025927" "11" "705" "133" "705" "133" "c.705+133T>C" "r.(?)" "p.(=)" "" "0000374859" "00015744" "11" "705" "133" "705" "133" "c.705+133T>C" "r.(=)" "p.(=)" "7i" "0000374860" "00025927" "11" "705" "133" "705" "133" "c.705+133T>C" "r.(?)" "p.(=)" "" "0000374860" "00015744" "11" "705" "133" "705" "133" "c.705+133T>C" "r.(=)" "p.(=)" "7i" "0000374861" "00025927" "11" "705" "133" "705" "133" "c.705+133T>C" "r.(?)" "p.(=)" "" "0000374861" "00015744" "11" "705" "133" "705" "133" "c.705+133T>C" "r.(=)" "p.(=)" "7i" "0000374862" "00025927" "11" "705" "133" "705" "133" "c.705+133T>C" "r.(?)" "p.(=)" "" "0000374862" "00015744" "11" "705" "133" "705" "133" "c.705+133T>C" "r.(=)" "p.(=)" "7i" "0000374870" "00025927" "11" "985" "175" "985" "175" "c.985+175T>A" "r.(?)" "p.(=)" "" "0000374870" "00015744" "11" "985" "175" "985" "175" "c.985+175T>A" "r.(=)" "p.(=)" "9i" "0000374871" "00025927" "11" "985" "175" "985" "175" "c.985+175T>A" "r.(?)" "p.(=)" "" "0000374871" "00015744" "11" "985" "175" "985" "175" "c.985+175T>A" "r.(=)" "p.(=)" "9i" "0000374872" "00025927" "11" "985" "175" "985" "175" "c.985+175T>A" "r.(?)" "p.(=)" "" "0000374872" "00015744" "11" "985" "175" "985" "175" "c.985+175T>A" "r.(=)" "p.(=)" "9i" "0000374873" "00025927" "11" "985" "175" "985" "175" "c.985+175T>A" "r.(?)" "p.(=)" "" "0000374873" "00015744" "11" "985" "175" "985" "175" "c.985+175T>A" "r.(=)" "p.(=)" "9i" "0000374874" "00025927" "11" "985" "175" "985" "175" "c.985+175T>A" "r.(?)" "p.(=)" "" "0000374874" "00015744" "11" "985" "175" "985" "175" "c.985+175T>A" "r.(=)" "p.(=)" "9i" "0000374882" "00025927" "11" "1098" "107" "1098" "107" "c.1098+107G>A" "r.(?)" "p.(=)" "" "0000374882" "00015744" "11" "1098" "107" "1098" "107" "c.1098+107G>A" "r.(=)" "p.(=)" "10i" "0000374883" "00025927" "11" "1098" "107" "1098" "107" "c.1098+107G>A" "r.(?)" "p.(=)" "" "0000374883" "00015744" "11" "1098" "107" "1098" "107" "c.1098+107G>A" "r.(=)" "p.(=)" "10i" "0000374884" "00025927" "11" "1098" "107" "1098" "107" "c.1098+107G>A" "r.(?)" "p.(=)" "" "0000374884" "00015744" "11" "1098" "107" "1098" "107" "c.1098+107G>A" "r.(=)" "p.(=)" "10i" "0000374885" "00025927" "11" "1098" "107" "1098" "107" "c.1098+107G>A" "r.(?)" "p.(=)" "" "0000374885" "00015744" "11" "1098" "107" "1098" "107" "c.1098+107G>A" "r.(=)" "p.(=)" "10i" "0000374892" "00025927" "11" "2091" "141" "2091" "141" "c.2091+141T>C" "r.(?)" "p.(=)" "" "0000374892" "00015744" "11" "2091" "141" "2091" "141" "c.2091+141T>C" "r.(=)" "p.(=)" "17i" "0000374893" "00025927" "11" "2091" "141" "2091" "141" "c.2091+141T>C" "r.(?)" "p.(=)" "" "0000374893" "00015744" "11" "2091" "141" "2091" "141" "c.2091+141T>C" "r.(=)" "p.(=)" "17i" "0000374894" "00025927" "11" "2091" "141" "2091" "141" "c.2091+141T>C" "r.(?)" "p.(=)" "" "0000374894" "00015744" "11" "2091" "141" "2091" "141" "c.2091+141T>C" "r.(=)" "p.(=)" "17i" "0000374902" "00025927" "11" "2868" "172" "2868" "172" "c.2868+172G>A" "r.(?)" "p.(=)" "" "0000374902" "00015744" "11" "2868" "172" "2868" "172" "c.2868+172G>A" "r.(=)" "p.(=)" "21i" "0000374903" "00025927" "11" "2868" "172" "2868" "172" "c.2868+172G>A" "r.(?)" "p.(=)" "" "0000374903" "00015744" "11" "2868" "172" "2868" "172" "c.2868+172G>A" "r.(=)" "p.(=)" "21i" "0000374906" "00025927" "11" "2869" "-109" "2869" "-109" "c.2869-109T>C" "r.(?)" "p.(=)" "" "0000374906" "00015744" "11" "2869" "-109" "2869" "-109" "c.2869-109T>C" "r.(=)" "p.(=)" "21i" "0000374907" "00025927" "11" "2869" "-109" "2869" "-109" "c.2869-109T>C" "r.(?)" "p.(=)" "" "0000374907" "00015744" "11" "2869" "-109" "2869" "-109" "c.2869-109T>C" "r.(=)" "p.(=)" "21i" "0000374908" "00025927" "11" "2869" "-109" "2869" "-109" "c.2869-109T>C" "r.(?)" "p.(=)" "" "0000374908" "00015744" "11" "2869" "-109" "2869" "-109" "c.2869-109T>C" "r.(=)" "p.(=)" "21i" "0000374909" "00025927" "11" "2869" "-109" "2869" "-109" "c.2869-109T>C" "r.(?)" "p.(=)" "" "0000374909" "00015744" "11" "2869" "-109" "2869" "-109" "c.2869-109T>C" "r.(=)" "p.(=)" "21i" "0000374910" "00025927" "99" "92" "-13779" "157" "41368" "c.92-13779_157+41368del" "r.?" "p.(Asp31_Asn52del)" "2i_3i" "0000374910" "00015744" "99" "92" "-13779" "157" "41368" "c.92-13779_157+41368del" "r.?" "p.(Asp31_Asn52del)" "2i_3i" "0000374911" "00025927" "99" "158" "-52781" "475" "-3295" "c.158-52781_475-3295dup" "r.?" "p.(Thr199Valfs*8)" "" "0000374911" "00015744" "99" "158" "-52781" "475" "-3295" "c.158-52781_475-3295dup" "r.?" "p.(Thr199Valfs*8)" "4_5" "0000374912" "00025927" "99" "158" "-52781" "475" "-3295" "c.158-52781_475-3295dup" "r.?" "p.(Thr199Valfs*8)" "3i_5i" "0000374912" "00015744" "99" "158" "-52781" "475" "-3295" "c.158-52781_475-3295dup" "r.?" "p.(Thr199Valfs*8)" "3i_5i" "0000374914" "00015744" "99" "92" "-1" "157" "1" "c.92-?_157+?del" "r.(?)" "p.(Asp31_Asn52del)" "3" "0000374915" "00025927" "11" "4367" "119" "4367" "119" "c.4367+119T>C" "r.(?)" "p.(=)" "" "0000374915" "00015744" "11" "4367" "119" "4367" "119" "c.4367+119T>C" "r.(=)" "p.(=)" "32i" "0000374916" "00025927" "11" "4367" "119" "4367" "119" "c.4367+119T>C" "r.(?)" "p.(=)" "" "0000374916" "00015744" "11" "4367" "119" "4367" "119" "c.4367+119T>C" "r.(=)" "p.(=)" "32i" "0000374917" "00025927" "11" "4367" "119" "4367" "119" "c.4367+119T>C" "r.(?)" "p.(=)" "" "0000374917" "00015744" "11" "4367" "119" "4367" "119" "c.4367+119T>C" "r.(=)" "p.(=)" "32i" "0000374921" "00025927" "75" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Val136Ala)" "" "0000374921" "00015744" "75" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Val136Ala)" "5" "0000374922" "00015744" "99" "3807" "-1" "4367" "1" "c.3807-?_4367+?del" "r.(?)" "p.(Glu1269_Leu1457delinsAsp)" "28i_32i" "0000374925" "00025927" "11" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Gly380Ser)" "" "0000374925" "00015744" "11" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Gly380Ser)" "11" "0000374926" "00025927" "11" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Gly380Ser)" "" "0000374926" "00015744" "11" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Gly380Ser)" "11" "0000374927" "00025927" "11" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Gly380Ser)" "" "0000374927" "00015744" "11" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Gly380Ser)" "11" "0000374928" "00025927" "11" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Gly380Ser)" "" "0000374928" "00015744" "11" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Gly380Ser)" "11" "0000374929" "00025927" "11" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Gly380Ser)" "" "0000374929" "00015744" "11" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Gly380Ser)" "11" "0000374930" "00025927" "11" "1263" "0" "1263" "0" "c.1263T>C" "r.(?)" "p.(Thr421=)" "" "0000374930" "00015744" "11" "1263" "0" "1263" "0" "c.1263T>C" "r.(?)" "p.(=)" "11" "0000374931" "00025927" "11" "1263" "0" "1263" "0" "c.1263T>C" "r.(?)" "p.(Thr421=)" "" "0000374931" "00015744" "11" "1263" "0" "1263" "0" "c.1263T>C" "r.(?)" "p.(=)" "11" "0000374934" "00025927" "15" "1591" "-68" "1591" "-68" "c.1591-68G>A" "r.(?)" "p.(=)" "" "0000374934" "00015744" "15" "1591" "-68" "1591" "-68" "c.1591-68G>A" "r.(=)" "p.(=)" "13i" "0000374935" "00025927" "15" "1591" "-68" "1591" "-68" "c.1591-68G>A" "r.(?)" "p.(=)" "" "0000374935" "00015744" "15" "1591" "-68" "1591" "-68" "c.1591-68G>A" "r.(=)" "p.(=)" "13i" "0000374936" "00025927" "99" "3373" "1" "3373" "1" "c.3373+1G>A" "r.spl" "p.?" "" "0000374936" "00015744" "99" "3373" "1" "3373" "1" "c.3373+1G>A" "r.(?)" "p.(?)" "25i" "0000374937" "00025927" "99" "3373" "1" "3373" "1" "c.3373+1G>A" "r.spl" "p.?" "" "0000374937" "00015744" "99" "3373" "1" "3373" "1" "c.3373+1G>A" "r.(?)" "p.(?)" "25i" "0000374938" "00015744" "11" "2092" "-1" "3501" "1" "c.2092-?_3501+?del" "r.(?)" "p.(Thr698_Lys1167del)" "17i_26i" "0000374939" "00025927" "35" "1343" "0" "1343" "0" "c.1343A>G" "r.(?)" "p.(Tyr448Cys)" "" "0000374939" "00015744" "35" "1343" "0" "1343" "0" "c.1343A>G" "r.(?)" "p.(Tyr448Cys)" "12" "0000374940" "00025927" "99" "2091" "1" "2091" "1" "c.2091+1G>T" "r.spl" "p.?" "" "0000374940" "00015744" "99" "2091" "1" "2091" "1" "c.2091+1G>T" "r.(?)" "p.(?)" "17i" "0000374941" "00025927" "99" "2091" "1" "2091" "1" "c.2091+1G>T" "r.spl" "p.?" "" "0000374941" "00015744" "99" "2091" "1" "2091" "1" "c.2091+1G>T" "r.(?)" "p.(?)" "17i" "0000374942" "00025927" "99" "2091" "1" "2091" "1" "c.2091+1G>T" "r.spl" "p.?" "" "0000374942" "00015744" "99" "2091" "1" "2091" "1" "c.2091+1G>T" "r.(?)" "p.(?)" "17i" "0000374943" "00025927" "99" "2091" "1" "2091" "1" "c.2091+1G>T" "r.spl" "p.?" "" "0000374943" "00015744" "99" "2091" "1" "2091" "1" "c.2091+1G>T" "r.(?)" "p.(?)" "17i" "0000374944" "00025927" "99" "2091" "1" "2091" "1" "c.2091+1G>T" "r.spl" "p.?" "" "0000374944" "00015744" "99" "2091" "1" "2091" "1" "c.2091+1G>T" "r.(?)" "p.(?)" 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"p.(=)" "" "0000375020" "00015744" "15" "1997" "131" "1997" "131" "c.1997+131A>G" "r.(=)" "p.(=)" "16i" "0000375021" "00025927" "15" "1998" "-45" "1998" "-45" "c.1998-45A>G" "r.(?)" "p.(=)" "" "0000375021" "00015744" "15" "1998" "-45" "1998" "-45" "c.1998-45A>G" "r.(=)" "p.(=)" "16i" "0000375022" "00025927" "15" "2752" "-230" "2752" "-230" "c.2752-230C>A" "r.(?)" "p.(=)" "" "0000375022" "00015744" "15" "2752" "-230" "2752" "-230" "c.2752-230C>A" "r.(=)" "p.(=)" "20i" "0000375023" "00025927" "15" "3795" "0" "3795" "0" "c.3795A>G" "r.(?)" "p.(Glu1265=)" "" "0000375023" "00015744" "15" "3795" "0" "3795" "0" "c.3795A>G" "r.(?)" "p.(Glu1265Asp)" "28" "0000375024" "00025927" "15" "4368" "-1946" "4368" "-1946" "c.4368-1946C>A" "r.(?)" "p.(=)" "" "0000375024" "00015744" "15" "5550" "0" "5550" "0" "c.5550C>A" "r.(?)" "p.(=)" "33" "0000375025" "00025927" "15" "1099" "-56" "1099" "-56" "c.1099-56C>A" "r.(?)" "p.(=)" "" "0000375025" "00015744" "15" "1099" "-56" "1099" "-56" "c.1099-56C>A" "r.(=)" "p.(=)" "10i" "0000375026" "00025927" "15" "3374" "-4" "3374" "-4" "c.3374-4C>T" "r.(?)" "p.(=)" "" "0000375026" "00015744" "15" "3374" "-4" "3374" "-4" "c.3374-4C>T" "r.(?)" "p.(?)" "25i" "0000375029" "00025927" "75" "4368" "-2945" "4368" "-2944" "c.4368-2945_4368-2944insTTG" "r.(?)" "p.(=)" "" "0000375029" "00015744" "75" "4551" "0" "4552" "0" "c.4551_4552insTTG" "r.(?)" "p.(Ser1517_Asp1518insLeu)" "33" "0000375030" "00025927" "99" "3717" "2" "3717" "2" "c.3717+2dup" "r.spl" "p.?" "" "0000375030" "00015744" "99" "3717" "2" "3717" "2" "c.3717+2dup" "r.spl" "p.?" "27i" "0000375031" "00025927" "99" "3717" "2" "3717" "2" "c.3717+2dup" "r.spl" "p.?" "" "0000375031" "00015744" "99" "3717" "2" "3717" "2" "c.3717+2dup" "r.spl?" "p.?" "27i" "0000375033" "00025927" "99" "1304" "0" "1305" "0" "c.1304_1305insC" "r.(?)" "p.(Thr436TyrfsTer12)" "" "0000375033" "00015744" "99" "1304" "0" "1305" "0" "c.1304_1305insC" "r.(?)" "p.(Thr436Tyrfs*12)" "11" "0000375034" "00025927" "35" "1205" "0" "1205" "0" "c.1205G>C" "r.(?)" "p.(Gly402Ala)" "" "0000375034" "00015744" "35" "1205" "0" "1205" "0" "c.1205G>C" "r.(=)" "p.(Gly402Ala)" "11" "0000375035" "00025927" "75" "875" "0" "875" "0" "c.875C>G" "r.(?)" "p.(Pro292Arg)" "" "0000375035" "00015744" "75" "875" "0" "875" "0" "c.875C>G" "r.(?)" "p.(Pro292Arg)" "8" "0000375036" "00025927" "15" "55" "0" "55" "0" "c.55T>A" "r.(?)" "p.(Ser19Thr)" "" "0000375036" "00015744" "15" "55" "0" "55" "0" "c.55T>A" "r.(?)" "p.(Ser19Thr)" "2" "0000375047" "00025927" "99" "3791" "0" "3794" "0" "c.3791_3794del" "r.(?)" "p.(Ile1264LysfsTer21)" "" "0000375047" "00015744" "99" "3791" "0" "3794" "0" "c.3791_3794del" "r.(?)" "p.(Ile1264Lysfs*21)" "28" "0000375048" "00015744" "99" "-28" "-1" "91" "1" "c.-28-?_91+?del" "r.(?)" "p.(?)" "1i_2i" "0000375049" "00025927" "75" "1286" "0" "1286" "0" "c.1286T>C" "r.(?)" "p.(Leu429Pro)" "" "0000375049" "00015744" "75" "1286" "0" "1286" "0" "c.1286T>C" "r.(?)" "p.(Leu429Pro)" "11" "0000375050" "00025927" "75" "1286" "0" "1286" "0" "c.1286T>C" "r.(?)" "p.(Leu429Pro)" "" "0000375050" "00015744" "75" "1286" "0" "1286" "0" "c.1286T>C" "r.(?)" "p.(Leu429Pro)" "11" "0000375051" "00025927" "75" "3862" "0" "3862" "0" "c.3862T>C" "r.(?)" "p.(Ser1288Pro)" "" "0000375051" "00015744" "75" "3862" "0" "3862" "0" "c.3862T>C" "r.(?)" "p.(Ser1288Pro)" "29" "0000375052" "00025927" "75" "4118" "0" "4118" "0" "c.4118C>T" "r.(?)" "p.(Thr1373Ile)" "" "0000375052" "00015744" "75" "4118" "0" "4118" "0" "c.4118C>T" "r.(?)" "p.(Thr1373Ile)" "30" "0000375053" "00025927" "75" "4118" "0" "4118" "0" "c.4118C>T" "r.(?)" "p.(Thr1373Ile)" "" "0000375053" "00015744" "75" "4118" "0" "4118" "0" "c.4118C>T" "r.(?)" "p.(Thr1373Ile)" "30" "0000375054" "00025927" "99" "1438" "0" "1438" "0" "c.1438del" "r.(?)" "p.(Ser480ArgfsTer2)" "" "0000375054" "00015744" "99" "1438" "0" "1438" "0" "c.1438del" "r.(?)" "p.(Ser480Argfs*2)" "12" "0000375055" "00025927" "35" "833" "0" "833" "0" "c.833G>A" "r.(?)" "p.(Arg278His)" "" "0000375055" "00015744" "35" "833" "0" "833" "0" "c.833G>A" "r.(=)" "p.(Arg278His)" "8" "0000375056" "00025927" "35" "833" "0" "833" "0" "c.833G>A" "r.(?)" "p.(Arg278His)" "" "0000375056" "00015744" "35" "833" "0" "833" "0" "c.833G>A" "r.(=)" "p.(Arg278His)" "8" "0000375057" "00025927" "35" "833" "0" "833" "0" "c.833G>A" "r.(?)" "p.(Arg278His)" "" "0000375057" "00015744" "35" "833" "0" "833" "0" "c.833G>A" "r.(=)" "p.(Arg278His)" "8" "0000375058" "00025927" "99" "3337" "0" "3337" "0" "c.3337G>T" "r.(?)" "p.(Glu1113Ter)" "" "0000375058" "00015744" "99" "3337" "0" "3337" "0" "c.3337G>T" "r.(?)" "p.(Glu1113*)" "25" "0000375059" "00025927" "99" "3337" "0" "3337" "0" "c.3337G>T" "r.(?)" "p.(Glu1113Ter)" "" "0000375059" "00015744" "99" "3337" "0" "3337" "0" "c.3337G>T" "r.(?)" "p.(Glu1113*)" "25" "0000375060" "00025927" "35" "2884" "0" "2884" "0" "c.2884C>T" "r.(?)" "p.(Arg962Cys)" "" "0000375060" "00015744" "35" "2884" "0" "2884" "0" "c.2884C>T" "r.(?)" "p.(Arg962Cys)" "22" "0000375061" "00025927" "99" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336Ter)" "" "0000375061" "00015744" "99" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336*)" "10" "0000375062" "00025927" "99" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336Ter)" "" "0000375062" "00015744" "99" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336*)" "10" "0000375063" "00025927" "75" "3724" "0" "3724" "0" "c.3724G>A" "r.(?)" "p.(Val1242Met)" "" "0000375063" "00015744" "75" "3724" "0" "3724" "0" "c.3724G>A" "r.(?)" "p.(Val1242Met)" "28" "0000375064" "00025927" "99" "158" "-1" "158" "-1" "c.158-1G>A" "r.spl" "p.?" "" "0000375064" "00015744" "99" "158" "-1" "158" "-1" "c.158-1G>A" "r.(?)" "p.(?)" "3i" "0000375066" "00025927" "11" "4671" "1344" "4671" "1344" "c.4671+1344A>C" "r.(?)" "p.(=)" "" "0000375066" "00015744" "11" "18514" "0" "18514" "0" "c.*12646A>C" "r.(=)" "p.(=)" "36" "0000375067" "00025927" "11" "92" "-57666" "92" "-57666" "c.92-57666A>G" "r.(?)" "p.(=)" "" "0000375067" "00015744" "11" "92" "-57666" "92" "-57666" "c.92-57666A>G" "r.(=)" "p.(=)" "2i" "0000375068" "00025927" "11" "92" "-57666" "92" "-57666" "c.92-57666A>G" "r.(?)" "p.(=)" "" "0000375068" "00015744" "11" "92" "-57666" "92" "-57666" "c.92-57666A>G" "r.(=)" "p.(=)" "2i" "0000375069" "00025927" "11" "1591" "0" "1591" "0" "c.1591C>T" "r.spl?" "p.(Leu531Phe)" "" "0000375069" "00015744" "11" "1591" "0" "1591" "0" "c.1591C>T" "r.spl?" "p.(Leu531Phe)" "14" "0000375070" "00015744" "99" "2869" "-1" "3122" "1" "c.2869-?_3122+?dup" "r.(?)" "p.(?)" "22_23" "0000375071" "00015744" "99" "2869" "-1" "3122" "1" "c.2869-?_3122+?dup" "r.(?)" "p.(?)" "22_23" "0000375072" "00025927" "99" "3513" "0" "3513" "0" "c.3513del" "r.(?)" "p.(Asp1172IlefsTer13)" "" "0000375072" "00015744" "99" "3513" "0" "3513" "0" "c.3513del" "r.(?)" "p.(Asp1172Ilefs*13)" "27" "0000375073" "00025927" "99" "3513" "0" "3513" "0" "c.3513del" "r.(?)" "p.(Asp1172IlefsTer13)" "" "0000375073" "00015744" "99" "3513" "0" "3513" "0" "c.3513del" "r.(?)" "p.(Asp1172Ilefs*13)" "27" "0000375074" "00025927" "15" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Arg343Lys)" "" "0000375074" "00015744" "15" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Arg343Lys)" "10" "0000375075" "00025927" "15" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Arg343Lys)" "" "0000375075" "00015744" "15" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Arg343Lys)" "10" "0000375076" "00025927" "99" "1063" "0" "1063" "0" "c.1063del" "r.(?)" "p.(Arg355GlufsTer66)" "" "0000375076" "00015744" "99" "1063" "0" "1063" "0" "c.1063del" "r.(?)" "p.(Arg355Glufs*66)" "10" "0000375077" "00025927" "99" "1063" "0" "1063" "0" "c.1063del" "r.(?)" "p.(Arg355GlufsTer66)" "" "0000375077" "00015744" "99" "1063" "0" "1063" "0" "c.1063del" "r.(?)" "p.(Arg355Glufs*66)" "10" "0000375078" "00025927" "99" "4202" "1" "4202" "1" "c.4202+1G>T" "r.spl" "p.?" "" "0000375078" "00015744" "99" "4202" "1" "4202" "1" "c.4202+1G>T" "r.(?)" "p.(?)" "30i" "0000375079" "00025927" "99" "3231" "0" "3231" "0" "c.3231dup" "r.(?)" "p.(Asp1078ArgfsTer6)" "" "0000375079" "00015744" "99" "3231" "0" "3231" "0" "c.3231dup" "r.(?)" "p.(Asp1078Argfs*6)" "24" "0000375080" "00025927" "75" "2367" "0" "2369" "0" "c.2367_2369del" "r.(?)" "p.(Val790del)" "" "0000375080" "00015744" "75" "2367" "0" "2369" "0" "c.2367_2369del" "r.(?)" "p.(Val790del)" "19" "0000375081" "00025927" "75" "2367" "0" "2369" "0" "c.2367_2369del" "r.(?)" "p.(Val790del)" "" "0000375081" "00015744" "75" "2367" "0" "2369" "0" "c.2367_2369del" "r.(?)" "p.(Val790del)" "19" "0000375082" "00025927" "75" "2367" "0" "2369" "0" "c.2367_2369del" "r.(?)" "p.(Val790del)" "" "0000375082" "00015744" "75" "2367" "0" "2369" "0" "c.2367_2369del" "r.(?)" "p.(Val790del)" "19" "0000375083" "00025927" "75" "2367" "0" "2369" "0" "c.2367_2369del" "r.(?)" "p.(Val790del)" "" "0000375083" "00015744" "75" "2367" "0" "2369" "0" "c.2367_2369del" "r.(?)" "p.(Val790del)" "19" "0000375084" "00025927" "75" "2367" "0" "2369" "0" "c.2367_2369del" "r.(?)" "p.(Val790del)" "" "0000375084" "00015744" "75" "2367" "0" "2369" "0" "c.2367_2369del" "r.(?)" "p.(Val790del)" "19" "0000375085" "00025927" "75" "2367" "0" "2369" "0" "c.2367_2369del" "r.(?)" "p.(Val790del)" "" "0000375085" "00015744" "75" "2367" "0" "2369" "0" "c.2367_2369del" "r.(?)" "p.(Val790del)" "19" "0000375086" "00025927" "75" "2367" "0" "2369" "0" "c.2367_2369del" "r.(?)" "p.(Val790del)" "" "0000375086" "00015744" "75" "2367" "0" "2369" "0" "c.2367_2369del" "r.(?)" "p.(Val790del)" "19" "0000375087" "00025927" "75" "2367" "0" "2369" "0" "c.2367_2369del" "r.(?)" "p.(Val790del)" "" "0000375087" "00015744" "75" "2367" "0" "2369" "0" "c.2367_2369del" "r.(?)" "p.(Val790del)" "19" "0000375088" "00025927" "99" "1865" "0" "1866" "0" "c.1865_1866insTA" "r.(?)" "p.(Leu623ThrfsTer8)" "" "0000375088" "00015744" "99" "1865" "0" "1866" "0" "c.1865_1866insTA" "r.(?)" "p.(Leu623Thrfs*8)" "15" "0000375089" "00025927" "99" "2959" "0" "2959" "0" "c.2959A>T" "r.(?)" "p.(Arg987Ter)" "" "0000375089" "00015744" "99" "2959" "0" "2959" "0" "c.2959A>T" "r.(?)" "p.(Arg987*)" "22" "0000375090" "00025927" "99" "92" "-2" "92" "-2" "c.92-2A>G" "r.spl" "p.?" "" "0000375090" "00015744" "99" "92" "-2" "92" "-2" "c.92-2A>G" "r.(?)" "p.(?)" "2i" "0000375091" "00025927" "75" "4128" "0" "4128" "0" "c.4128dup" "r.(?)" "p.(Leu1378ValfsTer26)" "" "0000375091" "00015744" "75" "4128" "0" "4128" "0" "c.4128dup" "r.(?)" "p.(Leu1378Valfs*26)" "30" "0000375092" "00015744" "99" "1099" "-1" "1305" "1" "c.1099-?_1305+?del" "r.(?)" "p.(?)" "11" "0000375093" "00025927" "99" "1950" "0" "1950" "0" "c.1950T>G" "r.(?)" "p.(Tyr650Ter)" "" "0000375093" "00015744" "99" "1950" "0" "1950" "0" "c.1950T>G" "r.(?)" "p.(Tyr650*)" "16" "0000375094" "00015744" "99" "-395" "-1" "91" "1" "c.-395-?_91+?del" "r.(?)" "p.(?)" "1_2" "0000375095" "00015744" "99" "-395" "-1" "91" "1" "c.-395-?_91+?del" "r.(?)" "p.(?)" "1_2" "0000375096" "00015744" "99" "-395" "-1" "91" "1" "c.-395-?_91+?del" "r.(?)" "p.(?)" "1_2" "0000375097" "00015744" "99" "-395" "-1" "91" "1" "c.-395-?_91+?del" "r.(?)" "p.(?)" "1_2" "0000375098" "00025927" "99" "4672" "-1564" "4672" "-1564" "c.4672-1564T>C" "r.(?)" "p.(=)" "" "0000375098" "00015744" "99" "19032" "0" "19032" "0" "c.*13164T>C" "r.(=)" "p.(=)" "39" "0000375099" "00015744" "99" "1785" "-1" "2220" "1" "c.1785-?_2220+?del" "r.(?)" "p.(?)" "15_18" "0000375100" "00025927" "99" "876" "29089" "1590" "3491" "c.876+29089_1590+3491del" "r.(?)" "p.(Glu293_Gln530del)" "" "0000375100" "00015744" "99" "876" "29089" "1590" "3491" "c.876+29089_1590+3491del" "r.(?)" "p.(Glu293_Gln530del)" "9i_14i" "0000375101" "00025927" "99" "876" "29089" "1590" "3491" "c.876+29089_1590+3491del" "r.(?)" "p.(Glu293_Gln530del)" "" "0000375101" "00015744" "99" "876" "29089" "1590" "3491" "c.876+29089_1590+3491del" "r.(?)" "p.(Glu293_Gln530del)" "9i_14i" "0000375102" "00025927" "99" "3901" "0" "3901" "0" "c.3901G>T" "r.(?)" "p.(Glu1301Ter)" "" "0000375102" "00015744" "99" "3901" "0" "3901" "0" "c.3901G>T" "r.(?)" "p.(Glu1301*)" "27" "0000375103" "00015744" "90" "158" "-1" "318" "1" "c.(157+1_158-1)_(318+1_319-1)del" "r.?" "p.?" "3i_4i" "0000458829" "00025927" "50" "1181" "0" "1181" "0" "c.1181A>G" "r.(?)" "p.(Tyr394Cys)" "" "0000458829" "00015744" "50" "1181" "0" "1181" "0" "c.1181A>G" "r.(?)" "p.(Tyr394Cys)" "" "0000540034" "00015744" "30" "20940" "0" "20940" "0" "c.*15072A>G" "r.(=)" "p.(=)" "" "0000540035" "00015744" "50" "20902" "0" "20902" "0" "c.*15034dup" "r.(?)" "p.(=)" "" "0000540036" "00015744" "70" "20902" "0" "20902" "0" "c.*15034dup" "r.(?)" "p.(=)" "" "0000540037" "00015744" "50" "19018" "0" "19018" "0" "c.*13150A>G" "r.(=)" "p.(=)" "" "0000540038" "00015744" "10" "18608" "0" "18608" "0" "c.*12740A>C" "r.(=)" "p.(=)" "" "0000540039" "00015744" "50" "18525" "0" "18525" "0" "c.*12657A>G" "r.(=)" "p.(=)" "" "0000540040" "00015744" "30" "18515" "0" "18515" "0" "c.*12647G>C" "r.(=)" "p.(=)" "" "0000540041" "00015744" "30" "18515" "0" "18515" "0" "c.*12647G>C" "r.(=)" "p.(=)" "" "0000540042" "00015744" "10" "18514" "0" "18514" "0" "c.*12646A>C" "r.(=)" "p.(=)" "" "0000540043" "00015744" "50" "18376" "0" "18402" "0" "c.*12508_*12534del" "r.(=)" "p.(=)" "" "0000540045" "00015744" "50" "17088" "0" "17088" "0" "c.*11220G>A" "r.(=)" "p.(=)" "" "0000540046" "00015744" "30" "5755" "0" "5755" "0" "c.5755T>A" "r.(?)" "p.(Cys1919Ser)" "" "0000540047" "00015744" "10" "5603" "0" "5603" "0" "c.5603C>T" "r.(?)" "p.(Thr1868Met)" "" "0000540048" "00015744" "30" "5603" "0" "5603" "0" "c.5603C>T" "r.(?)" "p.(Thr1868Met)" "" "0000540049" "00015744" "10" "5601" "0" "5603" "0" "c.5601_5603del" "r.(?)" "p.(Thr1869del)" "" "0000540050" "00015744" "50" "5573" "0" "5576" "0" "c.5573_5576dup" "r.(?)" "p.(Lys1859AsnfsTer2)" "" "0000540051" "00015744" "10" "5550" "0" "5550" "0" "c.5550C>A" "r.(?)" "p.(Thr1850=)" "" "0000540052" "00015744" "30" "5439" "0" "5439" "0" "c.5439A>C" "r.(?)" "p.(Pro1813=)" "" "0000540054" "00015744" "50" "5296" "0" "5304" "0" "c.5296_5304dup" "r.(?)" "p.(Ala1766_Pro1768dup)" "" "0000540055" "00015744" "50" "5294" "0" "5302" "0" "c.5294_5302del" "r.(?)" "p.(Leu1765_Pro1767del)" "" "0000540056" "00015744" "10" "5287" "0" "5292" "0" "c.5287_5292del" "r.(?)" "p.(Ala1763_Pro1764del)" "" "0000540057" "00015744" "30" "5278" "0" "5286" "0" "c.5278_5286del" "r.(?)" "p.(Pro1760_Pro1762del)" "" "0000540058" "00015744" "50" "5257" "0" "5277" "0" "c.5257_5277del" "r.(?)" "p.(Ile1753_Pro1759del)" "" "0000540059" "00015744" "10" "4974" "0" "4974" "0" "c.4974A>C" "r.(?)" "p.(Ser1658=)" "" "0000540060" "00015744" "30" "4974" "0" "4974" "0" "c.4974A>C" "r.(?)" "p.(Ser1658=)" "" "0000540061" "00015744" "30" "4939" "0" "4939" "0" "c.4939A>G" "r.(?)" "p.(Ile1647Val)" "" "0000540062" "00015744" "30" "4892" "0" "4892" "0" "c.4892C>A" "r.(?)" "p.(Ala1631Glu)" "" "0000540063" "00015744" "10" "4831" "0" "4834" "0" "c.4831_4834dup" "r.(?)" "p.(Thr1612LysfsTer11)" "" "0000540064" "00015744" "30" "4810" "0" "4810" "0" "c.4810A>G" "r.(?)" "p.(Arg1604Gly)" "" "0000540065" "00015744" "50" "4775" "0" "4775" "0" "c.4775C>A" "r.(?)" "p.(Pro1592Gln)" "" "0000540066" "00015744" "30" "4774" "0" "4774" "0" "c.4774C>T" "r.(?)" "p.(Pro1592Ser)" "" "0000540067" "00015744" "30" "4592" "0" "4592" "0" "c.4592A>G" "r.(?)" "p.(Glu1531Gly)" "" "0000540068" "00015744" "50" "4410" "0" "4420" "0" "c.4410_4420del" "r.(?)" "p.(Asn1470LysfsTer18)" "" "0000540069" "00015744" "30" "4320" "0" "4322" "0" "c.4320_4322dup" "r.(?)" "p.(Pro1443dup)" "" "0000540070" "00015744" "70" "4211" "2" "4211" "2" "c.4211+2T>G" "r.spl?" "p.?" "" "0000540071" "00015744" "10" "4024" "0" "4024" "0" "c.4024C>A" "r.(?)" "p.(Gln1342Lys)" "" "0000540072" "00015744" "10" "3983" "12" "3983" "12" "c.3983+12T>C" "r.(=)" "p.(=)" "" "0000540073" "00015744" "50" "3911" "0" "3911" "0" "c.3911C>G" "r.(?)" "p.(Thr1304Ser)" "" "0000540074" "00015744" "50" "3817" "0" "3817" "0" "c.3817C>A" "r.(?)" "p.(Arg1273Ser)" "" "0000540075" "00015744" "70" "3817" "0" "3817" "0" "c.3817C>A" "r.(?)" "p.(Arg1273Ser)" "" "0000540076" "00015744" "30" "3807" "-6" "3807" "-6" "c.3807-6T>G" "r.(=)" "p.(=)" "" "0000540078" "00015744" "10" "3532" "0" "3532" "0" "c.3532G>A" "r.(?)" "p.(Val1178Ile)" "" "0000540079" "00015744" "10" "3532" "0" "3532" "0" "c.3532G>A" "r.(?)" "p.(Val1178Ile)" "" "0000540080" "00015744" "10" "3502" "-10" "3502" "-10" "c.3502-10dup" "r.(=)" "p.(=)" "" "0000540081" "00015744" "10" "3502" "-14" "3502" "-14" "c.3502-14del" "r.(=)" "p.(=)" "" "0000540082" "00015744" "10" "3373" "12" "3373" "12" "c.3373+12T>G" "r.(=)" "p.(=)" "" "0000540083" "00015744" "30" "3324" "0" "3324" "0" "c.3324A>G" "r.(?)" "p.(Gln1108=)" "" "0000540084" "00015744" "30" "3232" "3" "3232" "3" "c.3232+3G>T" "r.spl?" "p.?" "" "0000540085" "00015744" "50" "2990" "0" "2990" "0" "c.2990A>G" "r.(?)" "p.(Glu997Gly)" "" "0000540087" "00015744" "10" "2885" "0" "2885" "0" "c.2885G>T" "r.(?)" "p.(Arg962Leu)" "" "0000540088" "00015744" "30" "2885" "0" "2885" "0" "c.2885G>T" "r.(?)" "p.(Arg962Leu)" "" "0000540089" "00015744" "30" "2751" "9" "2751" "9" "c.2751+9T>C" "r.(=)" "p.(=)" "" "0000540090" "00015744" "30" "2751" "9" "2751" "9" "c.2751+9T>C" "r.(=)" "p.(=)" "" "0000540091" "00015744" "50" "2581" "0" "2581" "0" "c.2581G>A" "r.(?)" "p.(Val861Met)" "" "0000540092" "00015744" "50" "2581" "0" "2581" "0" "c.2581G>A" "r.(?)" "p.(Val861Met)" "" "0000540093" "00015744" "50" "2563" "0" "2563" "0" "c.2563C>T" "r.(?)" "p.(Arg855Trp)" "" "0000540094" "00015744" "50" "2446" "0" "2446" "0" "c.2446A>G" "r.(?)" "p.(Ser816Gly)" "" "0000540095" "00015744" "50" "2386" "0" "2386" "0" "c.2386G>A" "r.(?)" "p.(Val796Ile)" "" "0000540096" "00015744" "30" "2325" "0" "2325" "0" "c.2325G>A" "r.(?)" "p.(Val775=)" "" "0000540097" "00015744" "50" "2214" "0" "2214" "0" "c.2214A>C" "r.(?)" "p.(Gln738His)" "" "0000540098" "00015744" "50" "2194" "0" "2194" "0" "c.2194G>A" "r.(?)" "p.(Ala732Thr)" "" "0000540099" "00015744" "30" "1998" "0" "1998" "0" "c.1998C>T" "r.(?)" "p.(Thr666=)" "" "0000540100" "00015744" "10" "1998" "-13" "1998" "-10" "c.1998-13_1998-10del" "r.(=)" "p.(=)" "" "0000540101" "00015744" "10" "1917" "12" "1917" "13" "c.1917+12_1917+13dup" "r.(=)" "p.(=)" "" "0000540102" "00015744" "30" "1900" "0" "1900" "0" "c.1900G>A" "r.(?)" "p.(Val634Ile)" "" "0000540103" "00015744" "50" "1900" "0" "1900" "0" "c.1900G>A" "r.(?)" "p.(Val634Ile)" "" "0000540104" "00015744" "50" "1826" "0" "1826" "0" "c.1826A>G" "r.(?)" "p.(Asn609Ser)" "" "0000540105" "00015744" "30" "1653" "0" "1653" "0" "c.1653G>A" "r.(?)" "p.(Gly551=)" "" "0000540106" "00015744" "50" "1494" "0" "1494" "0" "c.1494A>G" "r.(?)" "p.(Gln498=)" "" "0000540107" "00015744" "30" "1440" "7" "1440" "7" "c.1440+7A>C" "r.(=)" "p.(=)" "" "0000540108" "00015744" "10" "1362" "0" "1362" "0" "c.1362C>T" "r.(?)" "p.(Val454=)" "" "0000540109" "00015744" "10" "1306" "-6" "1306" "-6" "c.1306-6dup" "r.(=)" "p.(=)" "" "0000540110" "00015744" "50" "1282" "0" "1282" "0" "c.1282G>C" "r.(?)" "p.(Ala428Pro)" "" "0000540111" "00015744" "90" "1209" "0" "1209" "0" "c.1209T>G" "r.(?)" "p.(Tyr403Ter)" "" "0000540112" "00015744" "10" "706" "-8" "706" "-8" "c.706-8C>T" "r.(=)" "p.(=)" "" "0000540113" "00015744" "50" "563" "0" "563" "0" "c.563A>C" "r.(?)" "p.(Glu188Ala)" "" "0000540114" "00015744" "50" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Tyr153Cys)" "" "0000540115" "00015744" "10" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "" "0000540116" "00015744" "10" "-5" "0" "-5" "0" "c.-5A>G" "r.(?)" "p.(=)" "" "0000600841" "00025927" "99" "2092" "-2569" "3502" "-14202" "c.2092-2569_3502-14202delinsCAC" "r.?" "p.?" "" "0000600841" "00015744" "99" "2092" "-2569" "3502" "-14202" "c.2092-2569_3502-14202delinsCAC" "r.?" "p.?" "18-26" "0000600842" "00025927" "11" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "" "0000600842" "00015744" "11" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "2" "0000600843" "00015744" "90" "0" "" "0" "" "c.1590+?::[NR_108046.1:n.271-?];[NM_001080512.1:c.2794+?]::c.1590+?" "r.-395_1590::[NR_108046.1:r.271_659],[NM_001080512.1:r.1_2794]::r.1591_*758" "p.?" "20i" "0000602994" "00025927" "90" "2191" "0" "2191" "0" "c.2191G>T" "r.(?)" "p.(Glu731Ter)" "" "0000602994" "00015744" "90" "2191" "0" "2191" "0" "c.2191G>T" "r.(?)" "p.(Glu731*)" "" "0000612500" "00015744" "50" "20902" "0" "20902" "0" "c.*15034dup" "r.(?)" "p.(=)" "" "0000612501" "00015744" "30" "20815" "0" "20815" "0" "c.*14947C>T" "r.(=)" "p.(=)" "" "0000612502" "00015744" "50" "5351" "0" "5351" "0" "c.5351C>A" "r.(?)" "p.(Pro1784His)" "" "0000612503" "00015744" "30" "5206" "0" "5206" "0" "c.5206C>T" "r.(?)" "p.(His1736Tyr)" "" "0000612504" "00015744" "50" "5073" "0" "5073" "0" "c.5073T>G" "r.(?)" "p.(Ser1691Arg)" "" "0000612505" "00015744" "50" "3754" "0" "3754" "0" "c.3754G>C" "r.(?)" "p.(Val1252Leu)" "" "0000612506" "00015744" "50" "3718" "-3" "3718" "-3" "c.3718-3C>G" "r.spl?" "p.?" "" "0000612507" "00015744" "50" "3555" "0" "3555" "0" "c.3555A>G" "r.(?)" "p.(Ile1185Met)" "" "0000612508" "00015744" "30" "3183" "0" "3183" "0" "c.3183T>A" "r.(?)" "p.(Ala1061=)" "" "0000612509" "00015744" "50" "1799" "0" "1799" "0" "c.1799C>G" "r.(?)" "p.(Thr600Ser)" "" "0000612510" "00015744" "90" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000622389" "00015744" "50" "4320" "0" "4322" "0" "c.4320_4322dup" "r.(?)" "p.(Pro1443dup)" "" "0000622390" "00015744" "50" "4132" "0" "4132" "0" "c.4132T>A" "r.(?)" "p.(Leu1378Met)" "" "0000622391" "00015744" "50" "3194" "0" "3194" "0" "c.3194A>G" "r.(?)" "p.(Gln1065Arg)" "" "0000622392" "00015744" "90" "3010" "-3" "3010" "-2" "c.3010-3_3010-2del" "r.spl?" "p.?" "" "0000647916" "00025927" "10" "5124" "0" "5124" "0" "c.5124G>A" "r.(?)" "p.(Lys1708=)" "" "0000647916" "00015744" "10" "21048" "0" "21048" "0" "c.*15180G>A" "r.(=)" "p.(=)" "" "0000647917" "00025927" "10" "5124" "0" "5124" "0" "c.5124G>A" "r.(?)" "p.(Lys1708=)" "" "0000647917" "00015744" "10" "17139" "0" "17139" "0" "c.*11271G>A" "r.(=)" "p.(=)" "" "0000647918" "00025927" "30" "3451" "0" "3451" "0" "c.3451G>A" "r.(?)" "p.(Gly1151Arg)" "" "0000647918" "00015744" "30" "3451" "0" "3451" "0" "c.3451G>A" "r.(?)" "p.(Gly1151Arg)" "" "0000647919" "00025927" "50" "2884" "0" "2884" "0" "c.2884C>T" "r.(?)" "p.(Arg962Cys)" "" "0000647919" "00015744" "50" "2884" "0" "2884" "0" "c.2884C>T" "r.(?)" "p.(Arg962Cys)" "" "0000647920" "00025927" "50" "2768" "0" "2768" "0" "c.2768C>T" "r.(?)" "p.(Pro923Leu)" "" "0000647920" "00015744" "50" "2768" "0" "2768" "0" "c.2768C>T" "r.(?)" "p.(Pro923Leu)" "" "0000647921" "00025927" "50" "2581" "0" "2581" "0" "c.2581G>A" "r.(?)" "p.(Val861Met)" "" "0000647921" "00015744" "50" "2581" "0" "2581" "0" "c.2581G>A" "" "p.(Val861Met)" "" "0000647922" "00025927" "50" "2563" "0" "2563" "0" "c.2563C>T" "r.(?)" "p.(Arg855Trp)" "" "0000647922" "00015744" "50" "2563" "0" "2563" "0" "c.2563C>T" "r.(?)" "p.(Arg855Trp)" "" "0000647923" "00025927" "50" "1910" "0" "1910" "0" "c.1910A>G" "r.(?)" "p.(Asn637Ser)" "" "0000647923" "00015744" "50" "1910" "0" "1910" "0" "c.1910A>G" "r.(?)" "p.(Asn637Ser)" "" "0000647924" "00025927" "50" "546" "0" "546" "0" "c.546A>G" "r.(?)" "p.(Gly182=)" "" "0000647924" "00015744" "50" "546" "0" "546" "0" "c.546A>G" "r.(=)" "p.(=)" "" "0000656499" "00015744" "30" "18473" "0" "18473" "0" "c.*12605G>A" "r.(=)" "p.(=)" "" "0000656500" "00015744" "10" "5550" "0" "5550" "0" "c.5550C>A" "r.(?)" "p.(Thr1850=)" "" "0000656501" "00015744" "30" "2624" "0" "2624" "0" "c.2624C>T" "r.(?)" "p.(Ser875Leu)" "" "0000656502" "00015744" "30" "734" "0" "734" "0" "c.734G>A" "r.(?)" "p.(Arg245Gln)" "" "0000669065" "00025927" "50" "1910" "0" "1910" "0" "c.1910A>G" "r.(?)" "p.(Asn637Ser)" "" "0000669065" "00015744" "50" "1910" "0" "1910" "0" "c.1910A>G" "r.(?)" "p.(Asn637Ser)" "" "0000678848" "00015744" "50" "4644" "0" "4689" "0" "c.4644_4689dup" "r.(?)" "p.(Arg1564CysfsTer13)" "" "0000678849" "00015744" "50" "2813" "0" "2813" "0" "c.2813A>G" "r.(?)" "p.(Asp938Gly)" "" "0000684546" "00025927" "70" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "" "0000684546" "00015744" "70" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "" "0000684778" "00025927" "30" "4368" "-2684" "4368" "-2684" "c.4368-2684G>T" "r.(?)" "p.(=)" "" "0000684778" "00015744" "30" "4812" "0" "4812" "0" "c.4812G>T" "r.(?)" "p.(Arg1604Ser)" "" "0000684779" "00025927" "30" "2884" "0" "2884" "0" "c.2884C>T" "r.(?)" "p.(Arg962Cys)" "" "0000684779" "00015744" "30" "2884" "0" "2884" "0" "c.2884C>T" "r.(?)" "p.(Arg962Cys)" "" "0000684839" "00025927" "90" "3661" "0" "3661" "0" "c.3661C>T" "r.(?)" "p.(Gln1221Ter)" "" "0000684839" "00015744" "90" "3661" "0" "3661" "0" "c.3661C>T" "r.(?)" "p.(Gln1221*)" "" "0000685338" "00025927" "90" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000685338" "00015744" "90" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "" "0000685685" "00025927" "90" "1737" "0" "1737" "0" "c.1737C>G" "r.(?)" "p.(Tyr579Ter)" "" "0000685685" "00015744" "90" "1737" "0" "1737" "0" "c.1737C>G" "r.(?)" "p.(Tyr579*)" "" "0000690725" "00015744" "50" "5269" "0" "5280" "0" "c.5269_5280del" "r.(?)" "p.(Ser1757_Pro1760del)" "" "0000690726" "00015744" "30" "5044" "0" "5044" "0" "c.5044G>A" "r.(?)" "p.(Glu1682Lys)" "" "0000690727" "00015744" "30" "4552" "0" "4552" "0" "c.4552G>A" "r.(?)" "p.(Asp1518Asn)" "" "0000690728" "00015744" "50" "4323" "0" "4328" "0" "c.4323_4328dup" "r.(?)" "p.(Pro1442_Pro1443dup)" "" "0000708851" "00025927" "50" "2305" "0" "2305" "0" "c.2305G>A" "r.(?)" "p.(Gly769Arg)" "" "0000708851" "00015744" "50" "2305" "0" "2305" "0" "c.2305G>A" "r.(?)" "p.(Gly769Arg)" "" "0000722842" "00015744" "90" "20914" "0" "20914" "0" "c.*15046dup" "r.(?)" "p.(=)" "" "0000722843" "00015744" "50" "18505" "0" "18505" "0" "c.*12637del" "r.(?)" "p.(=)" "" "0000722844" "00015744" "50" "18241" "0" "18243" "0" "c.*12373_*12375del" "r.(=)" "p.(=)" "" "0000722845" "00015744" "50" "5279" "0" "5293" "0" "c.5279_5293del" "r.(?)" "p.(Pro1760_Pro1764del)" "" "0000722846" "00015744" "30" "3450" "0" "3450" "0" "c.3450C>A" "r.(?)" "p.(Ile1150=)" "" "0000722847" "00015744" "50" "1440" "0" "1440" "0" "c.1440G>A" "r.(?)" "p.(Ser480=)" "" "0000722848" "00015744" "90" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000722849" "00015744" "30" "92" "-10" "92" "-10" "c.92-10C>T" "r.(=)" "p.(=)" "" "0000729807" "00025927" "90" "4368" "-2928" "4368" "-2928" "c.4368-2928del" "r.(?)" "p.(=)" "" "0000729807" "00015744" "90" "4568" "0" "4568" "0" "c.4568del" "r.(?)" "p.(Ser1523Metfs*11)" "" "0000729808" "00025927" "90" "4368" "-2928" "4368" "-2928" "c.4368-2928del" "r.(?)" "p.(=)" "" "0000729808" "00015744" "90" "4568" "0" "4568" "0" "c.4568del" "r.(?)" "p.(Ser1523Metfs*11)" "" "0000730122" "00025927" "90" "3232" "1" "3232" "1" "c.3232+1G>A" "r.spl" "p.?" "" "0000730122" "00015744" "90" "3232" "1" "3232" "1" "c.3232+1G>A" "r.spl" "p.?" "" "0000730123" "00025927" "90" "189" "0" "194" "0" "c.189_194delinsGGACAACA" "r.(?)" "p.(Gly64AspfsTer11)" "" "0000730123" "00015744" "90" "189" "0" "194" "0" "c.189_194delinsGGACAACA" "r.(?)" "p.(Gly64Aspfs*11)" "" "0000730124" "00025927" "70" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Leu531Phe)" "" "0000730124" "00015744" "70" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Leu531Phe)" "" "0000730125" "00025927" "90" "1198" "0" "1198" "0" "c.1198delinsAGA" "r.(?)" "p.(Tyr400ArgfsTer22)" "" "0000730125" "00015744" "90" "1198" "0" "1198" "0" "c.1198delinsAGA" "r.(?)" "p.(Tyr400Argfs*22)" "" "0000730139" "00025927" "70" "1134" "0" "1134" "0" "c.1134T>G" "r.(?)" "p.(Phe378Leu)" "" "0000730139" "00015744" "70" "1134" "0" "1134" "0" "c.1134T>G" "r.(?)" "p.(Phe378Leu)" "" "0000730215" "00025927" "50" "3451" "0" "3451" "0" "c.3451G>A" "r.(?)" "p.(Gly1151Arg)" "" "0000730215" "00015744" "50" "3451" "0" "3451" "0" "c.3451G>A" "r.(?)" "p.(Gly1151Arg)" "" "0000730218" "00025927" "50" "1007" "0" "1007" "0" "c.1007G>A" "r.(?)" "p.(Arg336Gln)" "" "0000730218" "00015744" "50" "1007" "0" "1007" "0" "c.1007G>A" "r.(?)" "p.(Arg336Gln)" "" "0000730226" "00025927" "90" "1737" "0" "1738" "0" "c.1737_1738insA" "r.(?)" "p.(Ala580SerfsTer9)" "" "0000730226" "00015744" "90" "1737" "0" "1738" "0" "c.1737_1738insA" "r.(?)" "p.(Ala580Serfs*9)" "" "0000730254" "00025927" "70" "2884" "0" "2884" "0" "c.2884C>T" "r.(?)" "p.(Arg962Cys)" "" "0000730254" "00015744" "70" "2884" "0" "2884" "0" "c.2884C>T" "r.(?)" "p.(Arg962Cys)" "" "0000730261" "00025927" "90" "189" "0" "194" "0" "c.189_194delinsGGACAACA" "r.(?)" "p.(Gly64AspfsTer11)" "" "0000730261" "00015744" "90" "189" "0" "194" "0" "c.189_194delinsGGACAACA" "r.(?)" "p.(Gly64Aspfs*11)" "" "0000730298" "00025927" "90" "3441" "0" "3441" "0" "c.3441dup" "r.(?)" "p.(Phe1148IlefsTer8)" "" "0000730298" "00015744" "90" "3441" "0" "3441" "0" "c.3441dup" "r.(?)" "p.(Phe1148Ilefs*8)" "" "0000730308" "00025927" "50" "4368" "-2684" "4368" "-2684" "c.4368-2684G>T" "r.(?)" "p.(=)" "" "0000730308" "00015744" "50" "4812" "0" "4812" "0" "c.4812G>T" "r.(?)" "p.(Arg1604Ser)" "" "0000732466" "00015744" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000732497" "00015744" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000732507" "00015744" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000732881" "00025927" "70" "706" "-3" "717" "0" "c.706-3_717del" "r.spl" "p.?" "" "0000732881" "00015744" "70" "706" "-3" "717" "0" "c.706-3_717del" "r.spl" "p.?" "" "0000733248" "00025927" "70" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000733248" "00015744" "70" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "" "0000733249" "00025927" "70" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000733249" "00015744" "70" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "" "0000733250" "00025927" "70" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000733250" "00015744" "70" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "" "0000733251" "00025927" "70" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000733251" "00015744" "70" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "" "0000733252" "00025927" "70" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000733252" "00015744" "70" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "" "0000733253" "00025927" "70" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000733253" "00015744" "70" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "" "0000733254" "00025927" "70" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000733254" "00015744" "70" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "" "0000733662" "00015744" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000735994" "00025927" "50" "4368" "-2200" "4368" "-2192" "c.4368-2200_4368-2192dup" "r.(?)" "p.(=)" "" "0000735994" "00015744" "50" "5296" "0" "5304" "0" "c.5296_5304dup" "r.(?)" "p.(Ala1766_Pro1768dup)" "35" "0000736844" "00015744" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000736845" "00015744" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000736846" "00015744" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000736847" "00015744" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000759737" "00025927" "90" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Arg134Ter)" "" "0000759737" "00015744" "90" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Arg134Ter)" "" "0000759978" "00025927" "50" "4314" "0" "4322" "0" "c.4314_4322del" "r.(?)" "p.(Pro1441_Pro1443del)" "" "0000759978" "00015744" "50" "4306" "0" "4314" "0" "c.4306_4314del" "r.(?)" "p.(Pro1441_Pro1443del)" "" "0000760067" "00025927" "50" "4860" "0" "4860" "0" "c.4860G>A" "r.(?)" "p.(Thr1620=)" "" "0000760067" "00015744" "50" "20784" "0" "20784" "0" "c.*14916G>A" "r.(=)" "p.(=)" "" "0000760248" "00025927" "50" "4368" "-2132" "4368" "-2123" "c.4368-2132_4368-2123del" "r.(?)" "p.(=)" "" "0000760248" "00015744" "50" "5364" "0" "5373" "0" "c.5364_5373del" "r.(?)" "p.(Pro1789LeufsTer52)" "" "0000760470" "00025927" "50" "4368" "-1931" "4368" "-1931" "c.4368-1931C>A" "r.(?)" "p.(=)" "" "0000760470" "00015744" "50" "5586" "0" "5586" "0" "c.5586C>A" "r.(?)" "p.(Ala1862=)" "" "0000765231" "00025927" "90" "401" "0" "401" "0" "c.401G>A" "r.(?)" "p.(Arg134Gln)" "" "0000765231" "00015744" "90" "401" "0" "401" "0" "c.401G>A" "r.(?)" "p.(Arg134Gln)" "" "0000765232" "00015744" "90" "0" "0" "0" "0" "c.?" "r.0?" "p.0?" "" "0000765348" "00015744" "90" "0" "0" "0" "0" "c.?" "r.0?" "p.0?" "" "0000783895" "00015744" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000783981" "00015744" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000783984" "00015744" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000784001" "00025927" "10" "4368" "-2684" "4368" "-2684" "c.4368-2684G>T" "r.(?)" "p.(=)" "" "0000784001" "00015744" "10" "4812" "0" "4812" "0" "c.4812G>T" "r.(?)" "p.(Arg1604Ser)" "" "0000784002" "00025927" "50" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Leu531Phe)" "" "0000784002" "00015744" "50" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Leu531Phe)" "" "0000784166" "00025927" "50" "4368" "-2684" "4368" "-2684" "c.4368-2684G>T" "r.(?)" "p.(=)" "" "0000784166" "00015744" "50" "4812" "0" "4812" "0" "c.4812G>T" "r.(?)" "p.(Arg1604Ser)" "" "0000784167" "00025927" "50" "1195" "0" "1195" "0" "c.1195A>C" "r.(?)" "p.(Ser399Arg)" "" "0000784167" "00015744" "50" "1195" "0" "1195" "0" "c.1195A>C" "r.(?)" "p.(Ser399Arg)" "" "0000784662" "00025927" "50" "4368" "-2684" "4368" "-2684" "c.4368-2684G>T" "r.(?)" "p.(=)" "" "0000784662" "00015744" "50" "4812" "0" "4812" "0" "c.4812G>T" "r.(?)" "p.(Arg1604Ser)" "" "0000784663" "00025927" "50" "2884" "0" "2884" "0" "c.2884C>T" "r.(?)" "p.(Arg962Cys)" "" "0000784663" "00015744" "50" "2884" "0" "2884" "0" "c.2884C>T" "r.(?)" "p.(Arg962Cys)" "" "0000785520" "00025927" "50" "2768" "0" "2768" "0" "c.2768C>T" "r.(?)" "p.(Pro923Leu)" "" "0000785520" "00015744" "50" "2768" "0" "2768" "0" "c.2768C>T" "r.(?)" "p.(Pro923Leu)" "" "0000788381" "00025927" "50" "1483" "0" "1483" "0" "c.1483G>A" "r.(?)" "p.(Val495Ile)" "" "0000788381" "00015744" "50" "1483" "0" "1483" "0" "c.1483G>A" "r.(?)" "p.(Val495Ile)" "13" "0000788468" "00025927" "50" "4368" "-2307" "4368" "-2307" "c.4368-2307T>A" "r.(?)" "p.(=)" "" "0000788468" "00015744" "50" "5189" "0" "5189" "0" "c.5189T>A" "r.(?)" "p.(Ile1730Asn)" "33" "0000790737" "00015744" "70" "0" "0" "0" "0" "c.-395_91+15408{0}" "r.0?" "p.0?" "_1_2i" "0000794017" "00025927" "90" "4368" "-2630" "4368" "-2629" "c.4368-2630_4368-2629insGACA" "r.(?)" "p.(=)" "" "0000794017" "00015744" "90" "4866" "0" "4867" "0" "c.4866_4867insGACA" "r.(?)" "p.(Asn1623Aspfs*8)" "31" "0000794020" "00025927" "90" "4368" "-2232" "4368" "-2231" "c.4368-2232_4368-2231insGTCT" "r.(?)" "p.(=)" "" "0000794020" "00015744" "90" "5264" "0" "5265" "0" "c.5264_5265insGTCT" "r.(?)" "p.(Pro1756Serfs*16)" "31" "0000794147" "00015744" "70" "1066" "0" "1067" "0" "c.1066_1067del" "r.(?)" "p.(Asp356Leufs*6)" "" "0000794341" "00025927" "90" "1863" "0" "1864" "0" "c.1863_1864dup" "r.(?)" "p.(Ser622IlefsTer9)" "" "0000794341" "00015744" "90" "1863" "0" "1864" "0" "c.1863_1864dup" "r.(?)" "p.(Ser622Ilefs*9)" "15" "0000794863" "00025927" "50" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000794863" "00015744" "50" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "" "0000795861" "00025927" "70" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Gly37Ter)" "" "0000795861" "00015744" "70" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Gly37*)" "3" "0000797556" "00015744" "70" "3984" "-1" "4367" "1" "c.(3983+1_3984-1)_(4367+1_4368-1)del" "r.(?)" "p.(?)" "" "0000798039" "00025927" "70" "4368" "-1649" "4368" "-1648" "c.4368-1649_4368-1648del" "r.(?)" "p.(=)" "" "0000798039" "00015744" "70" "5847" "0" "5848" "0" "c.5847_5848del" "r.(?)" "p.(His1949Glnfs*14)" "" "0000798040" "00025927" "70" "594" "0" "594" "0" "c.594G>A" "r.(?)" "p.(Pro198=)" "" "0000798040" "00015744" "70" "594" "0" "594" "0" "c.594G>A" "r.(?)" "p.(Pro198=)" "" "0000804450" "00015744" "30" "20985" "0" "20985" "0" "c.*15117A>C" "r.(=)" "p.(=)" "" "0000804451" "00015744" "30" "18497" "0" "18497" "0" "c.*12629T>C" "r.(=)" "p.(=)" "" "0000804452" "00015744" "50" "5726" "0" "5726" "0" "c.5726G>A" "r.(?)" "p.(Arg1909His)" "" "0000804453" "00015744" "50" "5618" "0" "5618" "0" "c.5618C>G" "r.(?)" "p.(Thr1873Arg)" "" "0000804454" "00015744" "30" "5557" "0" "5557" "0" "c.5557A>C" "r.(?)" "p.(Met1853Leu)" "" "0000804455" "00015744" "30" "5278" "0" "5286" "0" "c.5278_5286del" "r.(?)" "p.(Pro1760_Pro1762del)" "" "0000804456" "00015744" "30" "4080" "0" "4080" "0" "c.4080G>A" "r.(?)" "p.(Val1360=)" "" "0000804457" "00015744" "50" "3101" "0" "3101" "0" "c.3101G>A" "r.(?)" "p.(Arg1034His)" "" "0000804458" "00015744" "30" "2754" "0" "2754" "0" "c.2754T>C" "r.(?)" "p.(Asp918=)" "" "0000804459" "00015744" "30" "1489" "0" "1489" "0" "c.1489A>G" "r.(?)" "p.(Ile497Val)" "" "0000813849" "00025927" "70" "1927" "0" "1927" "0" "c.1927C>T" "r.(?)" "p.(Arg643Ter)" "" "0000813849" "00015744" "70" "1927" "0" "1927" "0" "c.1927C>T" "r.(?)" "p.(Arg643*)" "" "0000816215" "00025927" "70" "1591" "-250" "1784" "251" "c.1591-250_1784+251del" "r.spl" "p.?" "" "0000816215" "00015744" "70" "1591" "-250" "1784" "251" "c.1591-250_1784+251del" "r.spl" "p.(?)" "" "0000816796" "00025927" "70" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000816796" "00015744" "70" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245*)" "" "0000818934" "00015744" "70" "-28" "-1" "2220" "1" "c.(?_-28-1)_(2220+1_2221-1)del" "r.0?" "p.0?" "_2_18i" "0000818935" "00025927" "70" "2624" "0" "2624" "0" "c.2624C>T" "r.(?)" "p.(Ser875Leu)" "" "0000818935" "00015744" "70" "2624" "0" "2624" "0" "c.2624C>T" "r.(?)" "p.(Ser880Leu)" "19" "0000819322" "00025927" "70" "2971" "0" "2971" "0" "c.2971C>T" "r.(?)" "p.(Arg991Ter)" "" "0000819322" "00015744" "70" "2971" "0" "2971" "0" "c.2971C>T" "r.(?)" "p.(Arg991*)" "" "0000819374" "00025927" "70" "3791" "0" "3794" "0" "c.3791_3794del" "r.(?)" "p.(Ile1264LysfsTer21)" "" "0000819374" "00015744" "70" "3791" "0" "3794" "0" "c.3791_3794del" "r.(?)" "p.(Ile1264Lysfs*21)" "" "0000819383" "00015744" "70" "92" "-1" "4367" "1" "c.(91+1_92-1)_(4367+1_4368-1)dup" "r.spl" "p.(?)" "" "0000819460" "00015744" "70" "158" "-1" "318" "1" "c.(157+1_158-1)_(318+1_319-1)del" "r.spl" "p.(?)" "" "0000819461" "00015744" "70" "158" "-1" "318" "1" "c.(157+1_158-1)_(318+1_319-1)del" "r.spl" "p.(?)" "" "0000820613" "00015744" "70" "92" "-1" "4367" "1" "c.(91+1_92-1)_(4367+1_4368-1)del" "r.spl" "p.(?)" "" "0000820627" "00015744" "70" "-28" "-1" "91" "1" "c.(-29+1_-28-1)_(91+1_92-1)del" "r.spl" "p.(?)" "" "0000821467" "00015744" "70" "0" "0" "0" "0" "c.?" "r.0?" "p.0?" "" "0000821648" "00015744" "70" "0" "0" "0" "0" "c.?" "r.0?" "p.0?" "" "0000822956" "00015744" "70" "0" "0" "0" "0" "c.?" "r.spl" "p.(?)" "" "0000823168" "00025927" "70" "2367" "0" "2369" "0" "c.2367_2369del" "r.(?)" "p.(Val790del)" "" "0000823168" "00015744" "70" "2367" "0" "2369" "0" "c.2367_2369del" "r.(?)" "p.(Val790del)" "" "0000825883" "00025927" "70" "4368" "-1775" "4368" "-1772" "c.4368-1775_4368-1772del" "r.(?)" "p.(=)" "" "0000825883" "00015744" "70" "5721" "0" "5724" "0" "c.5721_5724del" "r.(?)" "p.(Gln1907Hisfs*22)" "31" "0000825885" "00025927" "70" "4368" "-1779" "4368" "-1779" "c.4368-1779dup" "r.(?)" "p.(=)" "" "0000825885" "00015744" "70" "5717" "0" "5717" "0" "c.5717dup" "r.(?)" "p.(Gln1907Thrfs*17)" "31" "0000825978" "00025927" "70" "841" "0" "841" "0" "c.841A>G" "r.(?)" "p.(Thr281Ala)" "" "0000825978" "00015744" "70" "841" "0" "841" "0" "c.841A>G" "r.?" "p.(Thr281Ala)" "8" "0000825979" "00025927" "70" "146" "0" "146" "0" "c.146A>G" "r.(?)" "p.(Glu49Gly)" "" "0000825979" "00015744" "70" "146" "0" "146" "0" "c.146A>G" "r.(?)" "p.(Glu49Gly)" "3" "0000826010" "00025927" "70" "4368" "-2684" "4368" "-2684" "c.4368-2684G>T" "r.(?)" "p.(=)" "" "0000826010" "00015744" "70" "4812" "0" "4812" "0" "c.4812G>T" "r.?" "p.(Arg1604Ser)" "31" "0000826011" "00025927" "70" "3724" "0" "3724" "0" "c.3724G>A" "r.(?)" "p.(Val1242Met)" "" "0000826011" "00015744" "70" "3724" "0" "3724" "0" "c.3724G>A" "r.?" "p.(Val1242Met)" "28" "0000826450" "00025927" "50" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000826450" "00015744" "50" "733" "0" "733" "0" "c.733C>T" "r.?" "p.(Arg245*)" "7" "0000826492" "00025927" "30" "2885" "0" "2885" "0" "c.2885G>T" "r.(?)" "p.(Arg962Leu)" "" "0000826492" "00015744" "30" "2885" "0" "2885" "0" "c.2885G>T" "r.?" "p.(Arg962Leu)" "21" "0000827479" "00025927" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Gln186Ter)" "" "0000827479" "00015744" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Gln186*)" "6" "0000827480" "00025927" "70" "308" "0" "308" "0" "c.308T>G" "r.(?)" "p.(Leu103Arg)" "" "0000827480" "00015744" "70" "308" "0" "308" "0" "c.308T>G" "r.(?)" "p.(Leu103Arg)" "4" "0000827481" "00025927" "70" "401" "0" "401" "0" "c.401G>A" "r.(?)" "p.(Arg134Gln)" "" "0000827481" "00015744" "70" "401" "0" "401" "0" "c.401G>A" "r.(?)" "p.(Arg134Gln)" "5" "0000827482" "00025927" "50" "4368" "-2209" "4368" "-2204" "c.4368-2209_4368-2204del" "r.(?)" "p.(=)" "" "0000827482" "00015744" "50" "5287" "0" "5292" "0" "c.5287_5292del" "r.(?)" "p.(Ser1763_Gly1764del)" "31" "0000828797" "00025927" "50" "2884" "0" "2884" "0" "c.2884C>T" "r.(?)" "p.(Arg962Cys)" "" "0000828797" "00015744" "50" "2884" "0" "2884" "0" "c.2884C>T" "r.(?)" "p.(Arg962Cys)" "" "0000828900" "00025927" "70" "4368" "-2908" "4368" "-2907" "c.4368-2908_4368-2907insGAGA" "r.(?)" "p.(=)" "" "0000828900" "00015744" "70" "4587" "0" "4588" "0" "c.4587_4588insAGAG" "r.(?)" "p.(Lys1530Argfs*33)" "" "0000829002" "00025927" "50" "4368" "-2209" "4368" "-2204" "c.4368-2209_4368-2204del" "r.(?)" "p.(=)" "" "0000829002" "00015744" "50" "5287" "0" "5292" "0" "c.5287_5292del" "r.(?)" "p.(Ala1763_Pro1764del)" "" "0000829478" "00025927" "70" "4368" "-2763" "4368" "-2760" "c.4368-2763_4368-2760del" "r.(?)" "p.(=)" "" "0000829478" "00015744" "70" "4733" "0" "4736" "0" "c.4733_4736del" "r.(?)" "p.(Arg1579Valfs*14)" "31" "0000829479" "00025927" "70" "1737" "0" "1738" "0" "c.1737_1738insA" "r.(?)" "p.(Ala580SerfsTer9)" "" "0000829479" "00015744" "70" "1737" "0" "1738" "0" "c.1737_1738insA" "r.(?)" "p.(Pro580Thrfs*6)" "14" "0000829507" "00025927" "50" "92" "-528" "92" "-528" "c.92-528C>T" "r.(?)" "p.(=)" "" "0000829507" "00015744" "50" "92" "-528" "92" "-528" "c.92-528C>T" "r.(=)" "p.(=)" "2i" "0000829508" "00025927" "70" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "" "0000829508" "00015744" "70" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Glu435Ala)" "11" "0000829537" "00015744" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "0000829538" "00015744" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "0000829539" "00015744" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "0000829540" "00015744" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "0000829541" "00015744" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "0000829706" "00025927" "90" "2971" "0" "2971" "0" "c.2971C>T" "r.(?)" "p.(Arg991*)" "" "0000829706" "00015744" "90" "2971" "0" "2971" "0" "c.2971C>T" "r.(?)" "p.(Arg991*)" "" "0000829727" "00015744" "70" "-189197" "0" "610" "-5166" "c.-189197_610-5166del" "r.?" "p.?" "" "0000847531" "00025927" "70" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "" "0000847531" "00015744" "70" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "11" "0000847532" "00025927" "70" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "" "0000847532" "00015744" "70" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "11" "0000847533" "00025927" "70" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "" "0000847533" "00015744" "70" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "11" "0000847534" "00025927" "70" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "" "0000847534" "00015744" "70" "1304" "0" "1304" "0" "c.1304A>C" "r.(?)" "p.(Asp435Ala)" "11" "0000852498" "00025927" "50" "4671" "1058" "4671" "1058" "c.4671+1058A>G" "r.(=)" "p.(=)" "" "0000852498" "00015744" "50" "18228" "0" "18228" "0" "c.*12360A>G" "r.(=)" "p.(=)" "" "0000852499" "00025927" "30" "4368" "-2768" "4368" "-2768" "c.4368-2768G>A" "r.(=)" "p.(=)" "" "0000852499" "00015744" "30" "4728" "0" "4728" "0" "c.4728G>A" "r.(?)" "p.(Gln1576=)" "" "0000852500" "00025927" "50" "4368" "-2815" "4368" "-2812" "c.4368-2815_4368-2812dup" "r.(=)" "p.(=)" "" "0000852500" "00015744" "50" "4681" "0" "4684" "0" "c.4681_4684dup" "r.(?)" "p.(Ser1562*)" "" "0000852501" "00025927" "30" "4202" "7" "4202" "7" "c.4202+7A>T" "r.(=)" "p.(=)" "" "0000852501" "00015744" "30" "4202" "7" "4202" "7" "c.4202+7A>T" "r.(=)" "p.(=)" "" "0000852502" "00025927" "30" "3963" "0" "3963" "0" "c.3963C>T" "r.(?)" "p.(Ile1321=)" "" "0000852502" "00015744" "30" "3963" "0" "3963" "0" "c.3963C>T" "r.(?)" "p.(Ile1321=)" "" "0000852503" "00025927" "50" "2918" "0" "2918" "0" "c.2918C>A" "r.(?)" "p.(Pro973His)" "" "0000852503" "00015744" "50" "2918" "0" "2918" "0" "c.2918C>A" "r.(?)" "p.(Pro973His)" "" "0000852504" "00015744" "30" "2885" "0" "2885" "0" "c.2885G>T" "r.(?)" "p.(Arg962Leu)" "" "0000852505" "00015744" "50" "2563" "0" "2563" "0" "c.2563C>T" "r.(?)" "p.(Arg855Trp)" "" "0000852506" "00015744" "30" "2435" "0" "2435" "0" "c.2435T>C" "r.(?)" "p.(Ile812Thr)" "" "0000852507" "00025927" "30" "2202" "0" "2202" "0" "c.2202C>T" "r.(?)" "p.(Ala734=)" "" "0000852507" "00015744" "30" "2202" "0" "2202" "0" "c.2202C>T" "r.(?)" "p.(Ala734=)" "" "0000852508" "00025927" "50" "1306" "0" "1306" "0" "c.1306A>G" "r.(?)" "p.(Thr436Ala)" "" "0000852508" "00015744" "50" "1306" "0" "1306" "0" "c.1306A>G" "r.(?)" "p.(Thr436Ala)" "" "0000852509" "00015744" "90" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0000861922" "00025927" "30" "4672" "-1682" "4672" "-1682" "c.4672-1682T>C" "r.(=)" "p.(=)" "" "0000861922" "00015744" "30" "18914" "0" "18914" "0" "c.*13046T>C" "r.(=)" "p.(=)" "" "0000861924" "00025927" "30" "4368" "-1961" "4368" "-1961" "c.4368-1961T>C" "r.(=)" "p.(=)" "" "0000861924" "00015744" "30" "5535" "0" "5535" "0" "c.5535T>C" "r.(?)" "p.(Gly1845=)" "" "0000861925" "00025927" "50" "313" "0" "313" "0" "c.313A>G" "r.(?)" "p.(Arg105Gly)" "" "0000861925" "00015744" "50" "313" "0" "313" "0" "c.313A>G" "r.(?)" "p.(Arg105Gly)" "" "0000861926" "00025927" "30" "63" "0" "63" "0" "c.63T>C" "r.(?)" "p.(Phe21=)" "" "0000861926" "00015744" "30" "63" "0" "63" "0" "c.63T>C" "r.(?)" "p.(Phe21=)" "" "0000872663" "00015744" "90" "319" "-1" "474" "1" "c.(?_319-1)_(474+1_?)del" "r.spl" "p.?" "" "0000889158" "00015744" "30" "20784" "0" "20784" "0" "c.*14916G>A" "r.(=)" "p.(=)" "" "0000889159" "00025927" "50" "4672" "-1653" "4672" "-1653" "c.4672-1653dup" "r.(=)" "p.(=)" "" "0000889159" "00015744" "50" "18943" "0" "18943" "0" "c.*13075dup" "r.(?)" "p.(=)" "" "0000889160" "00015744" "30" "4812" "0" "4812" "0" "c.4812G>T" "r.(?)" "p.(Arg1604Ser)" "" "0000889161" "00015744" "30" "3324" "0" "3324" "0" "c.3324A>G" "r.(?)" "p.(Gln1108=)" "" "0000889162" "00025927" "30" "2538" "0" "2538" "0" "c.2538C>T" "r.(?)" "p.(Val846=)" "" "0000889162" "00015744" "30" "2538" "0" "2538" "0" "c.2538C>T" "r.(?)" "p.(Val846=)" "" "0000889163" "00025927" "30" "903" "0" "903" "0" "c.903G>A" "r.(?)" "p.(Thr301=)" "" "0000889163" "00015744" "30" "903" "0" "903" "0" "c.903G>A" "r.(?)" "p.(Thr301=)" "" "0000896506" "00025927" "50" "2884" "0" "2884" "0" "c.2884C>T" "r.(?)" "p.(Arg962Cys)" "" "0000896506" "00015744" "50" "2884" "0" "2884" "0" "c.2884C>T" "r.(?)" "p.(Arg962Cys)" "" "0000896507" "00025927" "50" "4368" "-2209" "4368" "-2204" "c.4368-2209_4368-2204del" "r.(?)" "p.(=)" "" "0000896507" "00015744" "50" "5287" "0" "5292" "0" "c.5287_5292del" "r.(?)" "p.(Ala1763_Pro1764del)" "" "0000896633" "00025927" "70" "4368" "-2928" "4368" "-2927" "c.4368-2928_4368-2927insAGAG" "r.(?)" "p.(=)" "" "0000896633" "00015744" "70" "4568" "0" "4569" "0" "c.4568_4569insAGAG" "r.(?)" "p.(Ser1523ArgfsTer5)" "" "0000913284" "00015744" "70" "18387" "0" "18387" "0" "c.*12519C>T" "r.(=)" "p.(=)" "" "0000913285" "00025927" "30" "2379" "0" "2379" "0" "c.2379T>C" "r.(?)" "p.(Asp793=)" "" "0000913285" "00015744" "30" "2379" "0" "2379" "0" "c.2379T>C" "r.(?)" "p.(Asp793=)" "" "0000917865" "00025927" "50" "1098" "2354" "1098" "2354" "c.1098+2354G>A" "r.(?)" "p.(=)" "" "0000917865" "00015744" "50" "1098" "2354" "1098" "2354" "c.1098+2354G>A" "r.(?)" "p.(=)" "" "0000925162" "00025927" "50" "949" "0" "949" "0" "c.949T>A" "r.(?)" "p.(Ser317Thr)" "" "0000925162" "00015744" "50" "949" "0" "949" "0" "c.949T>A" "r.(?)" "p.(Ser317Thr)" "" "0000929683" "00025927" "70" "4240" "0" "4240" "0" "c.4240C>T" "r.(?)" "p.(Arg1414*)" "" "0000929683" "00015744" "70" "4240" "0" "4240" "0" "c.4240C>T" "r.(?)" "p.(Arg1414*)" "" "0000944158" "00015744" "90" "1591" "-1" "1917" "1" "c.(1590+1_1591-1)_(1917+1_1918-1)del" "r.?" "p.?" "" "0000944159" "00025927" "90" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "" "0000944159" "00015744" "90" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Arg134Gly)" "" "0000944160" "00025927" "70" "788" "0" "788" "0" "c.788C>A" "r.(?)" "p.(Pro263Gln)" "" "0000944160" "00015744" "70" "788" "0" "788" "0" "c.788C>A" "r.(?)" "p.(Pro263Gln)" "" "0000944161" "00025927" "90" "1737" "0" "1737" "0" "c.1737C>A" "r.(?)" "p.(Tyr579Ter)" "" "0000944161" "00015744" "90" "1737" "0" "1737" "0" "c.1737C>A" "p.(Tyr584*)" "p.(Tyr579Ter)" "" "0000946832" "00025927" "70" "1007" "0" "1007" "0" "c.1007G>A" "r.(?)" "p.(Arg336Gln)" "" "0000946832" "00015744" "70" "1007" "0" "1007" "0" "c.1007G>A" "r.(?)" "p.(Arg336Gln)" "" "0000946833" "00025927" "70" "2906" "0" "2906" "0" "c.2906A>T" "r.(?)" "p.(Asp969Val)" "" "0000946833" "00015744" "70" "2906" "0" "2906" "0" "c.2906A>T" "r.(?)" "p.(Asp969Val)" "" "0000949405" "00025927" "50" "4368" "-2775" "4368" "-2775" "c.4368-2775G>A" "r.(=)" "p.(=)" "" "0000949405" "00015744" "50" "4721" "0" "4721" "0" "c.4721G>A" "r.(?)" "p.(Trp1574*)" "" "0000958422" "00025927" "90" "366" "0" "366" "0" "c.366del" "r.(?)" "p.(Asn122LysfsTer14)" "" "0000958422" "00015744" "90" "366" "0" "366" "0" "c.366del" "r.(?)" "p.(Asn122LysfsTer14)" "" "0000958452" "00025927" "70" "4991" "0" "4991" "0" "c.4991dup" "r.(?)" "p.(Met1664IlefsTer18)" "" "0000958452" "00015744" "70" "4817" "0" "4817" "0" "c.4817dup" "r.(?)" "p.(Met1601IlefsTer18)" "" "0000958745" "00025927" "90" "4128" "0" "4128" "0" "c.4128dup" "r.(?)" "p.(Leu1378ValfsTer26)" "" "0000958745" "00015744" "90" "4128" "0" "4128" "0" "c.4128dup" "r.(?)" "p.(Leu1378ValfsTer26)" "" "0000958749" "00025927" "90" "1997" "1" "1997" "1" "c.1997+1G>A" "r.spl" "p.?" "" "0000958749" "00015744" "90" "1997" "1" "1997" "1" "c.1997+1G>A" "r.spl" "p.?" "" "0000958750" "00025927" "90" "2191" "0" "2191" "0" "c.2191G>T" "r.(?)" "p.(Glu731Ter)" "" "0000958750" "00015744" "90" "2191" "0" "2191" "0" "c.2191G>T" "r.(?)" "p.(Glu731Ter)" "" "0000958755" "00025927" "90" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000958755" "00015744" "90" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Ter)" "" "0000959199" "00025927" "70" "986" "-5151" "993" "0" "c.986-5151_993del" "r.spl" "p.?" "" "0000959199" "00015744" "70" "986" "-5151" "993" "0" "c.986-5151_993del" "r.spl" "p.?" "" "0000959201" "00025927" "90" "3983" "1" "3983" "1" "c.3983+1G>T" "r.spl" "p.?" "" "0000959201" "00015744" "90" "3983" "1" "3983" "1" "c.3983+1G>T" "r.spl" "p.?" "" "0000959236" "00025927" "50" "2581" "0" "2581" "0" "c.2581G>A" "r.(?)" "p.(Val861Met)" "" "0000959236" "00015744" "50" "2581" "0" "2581" "0" "c.2581G>A" "r.(?)" "p.(Val861Met)" "" "0000959237" "00025927" "50" "4368" "-2044" "4368" "-2044" "c.4368-2044C>A" "r.(?)" "p.(=)" "" "0000959237" "00015744" "50" "5452" "0" "5452" "0" "c.5452C>A" "r.(?)" "p.(Leu1818Ile)" "" "0000959275" "00025927" "90" "4368" "-2852" "4368" "-2807" "c.4368-2852_4368-2807dup" "r.(?)" "p.(=)" "" "0000959275" "00015744" "90" "4644" "0" "4689" "0" "c.4644_4689dup" "r.(?)" "p.(Arg1564CysfsTer13)" "" "0000959375" "00025927" "70" "4368" "-2763" "4368" "-2760" "c.4368-2763_4368-2760del" "r.(?)" "p.(=)" "" "0000959375" "00015744" "70" "4733" "0" "4736" "0" "c.4733_4736del" "r.(?)" "p.(Val1578AlafsTer6)" "" "0000965748" "00025927" "50" "4368" "-2122" "4368" "-2117" "c.4368-2122_4368-2117del" "r.(=)" "p.(=)" "" "0000965748" "00015744" "50" "5374" "0" "5379" "0" "c.5374_5379del" "r.(?)" "p.(Pro1792_Pro1793del)" "" "0000965749" "00025927" "50" "4325" "0" "4325" "0" "c.4325C>T" "r.(?)" "p.(Pro1442Leu)" "" "0000965749" "00015744" "50" "4325" "0" "4325" "0" "c.4325C>T" "r.(?)" "p.(Pro1442Leu)" "" "0000965750" "00025927" "30" "4317" "0" "4322" "0" "c.4317_4322dup" "r.(?)" "p.(Pro1442_Pro1443dup)" "" "0000965750" "00015744" "30" "4317" "0" "4322" "0" "c.4317_4322dup" "r.(?)" "p.(Pro1442_Pro1443dup)" "" "0000965752" "00025927" "70" "3123" "-1728" "3123" "-1728" "c.3123-1728A>G" "r.(=)" "p.(=)" "" "0000965752" "00015744" "70" "3123" "-1728" "3123" "-1728" "c.3123-1728A>G" "r.(=)" "p.(=)" "" "0000965753" "00025927" "90" "3122" "1" "3122" "1" "c.3122+1G>A" "r.spl?" "p.?" "" "0000965753" "00015744" "90" "3122" "1" "3122" "1" "c.3122+1G>A" "r.spl?" "p.?" "" "0000965757" "00025927" "50" "131" "0" "131" "0" "c.131T>C" "r.(?)" "p.(Val44Ala)" "" "0000965757" "00015744" "50" "131" "0" "131" "0" "c.131T>C" "r.(?)" "p.(Val44Ala)" "" "0000979069" "00025927" "30" "4640" "0" "4640" "0" "c.4640G>A" "r.(?)" "p.(Gly1547Asp)" "" "0000979069" "00015744" "30" "17139" "0" "17139" "0" "c.*11271G>A" "r.(=)" "p.(=)" "" "0000979070" "00015744" "30" "2751" "9" "2751" "9" "c.2751+9T>C" "r.(=)" "p.(=)" "" "0000985484" "00025927" "70" "2151" "0" "2151" "0" "c.2151del" "r.(?)" "p.(Phe717LeufsTer23)" "" "0000985484" "00015744" "70" "2149" "0" "2149" "0" "c.2149del" "r.(?)" "p.(Phe717Leufs*23)" "" "0000985495" "00025927" "70" "2221" "-9695" "3806" "3452" "c.2221-9695_3806+3452del" "r.?" "p.?" "" "0000985495" "00015744" "70" "2221" "-9695" "3806" "3452" "c.2221-9695_3806+3452del" "r.?" "p.?" "" "0001014627" "00015744" "30" "18897" "0" "18897" "0" "c.*13029G>A" "r.(=)" "p.(=)" "" "0001037921" "00025927" "70" "4127" "0" "4127" "0" "c.4127C>A" "r.(?)" "p.(Ala1376Asp)" "" "0001037921" "00015744" "70" "4127" "0" "4127" "0" "c.4127C>A" "r.(?)" "p.(Ala1376Asp)" "" "0001037922" "00025927" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Ile)" "" "0001037922" "00015744" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Ile)" "" "0001044616" "00015744" "90" "3717" "5" "3717" "5" "c.3717+5G>A" "r.3717_3718ins[GTAAA;3717+6_3717+51]" "p.Val1240_Ser1241insAsnArgTer" "27i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 865 "{{screeningid}}" "{{variantid}}" "0000059160" "0000089977" "0000059160" "0000089978" "0000060223" "0000091209" "0000080110" "0000128993" "0000080110" "0000128994" "0000081146" "0000130232" "0000156381" "0000358303" "0000166633" "0000374652" "0000167010" "0000374262" "0000167010" "0000374270" "0000167011" "0000374271" "0000167012" "0000374272" "0000167013" "0000374273" "0000167014" "0000374275" "0000167014" "0000374276" "0000167014" "0000374280" "0000167014" "0000374281" "0000167014" "0000374290" "0000167014" "0000374291" "0000167015" "0000374274" "0000167016" "0000374289" "0000167016" "0000374294" "0000167016" "0000374297" "0000167016" "0000374298" "0000167016" "0000374299" "0000167016" "0000374300" "0000167016" "0000374301" "0000167016" 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