### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = NTRK1)
# 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}}"
"NTRK1" "neurotrophic tyrosine kinase, receptor, type 1" "1" "q21-q22" "unknown" "NG_007493.1" "UD_132118554215" "" "https://www.LOVD.nl/NTRK1" "" "1" "8031" "4914" "191315" "1" "1" "1" "1" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages\r\nVariants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB." "" "g" "https://databases.lovd.nl/shared/refseq/NTRK1_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00002" "2012-05-23 00:00:00" "00006" "2018-12-29 12:36:24" "00000" "2022-05-09 15:51:19"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00000106" "NTRK1" "neurotrophic tyrosine kinase, receptor, type 1, transcript variant 3" "002" "NM_002529.3" "" "NP_001007793.1" "" "" "" "-56" "2599" "2391" "156830671" "156851642" "00002" "2012-05-11 13:12:07" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40"
"01825" "GSD5" "storage disease, glycogen, type V (GSD5, McArdle disease)" "AR" "232600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-09-30 11:09:13"
"01872" "CIP" "pain, indifference, congenital, autosomal recessive (CIP)" "AR" "243000" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01971" "CIPA" "pain insensitivity, congenital, with anhidrosis (CIPA)" "AR" "256800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-10-27 15:31:57"
"02045" "pyr.kin. deficiency" "pyruvate kinase deficiency" "AR" "266200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-02-17 09:10:02"
"05611" "NDD" "neurodevelopmental delay (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2019-08-07 19:22:28"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"NTRK1" "01971"
## Individuals ## Do not remove or alter this header ##
## Count = 164
"{{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}}"
"00000009" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" ""
"00000026" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" ""
"00000063" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" ""
"00036403" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036404" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036405" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036406" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036407" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036408" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036409" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036410" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036411" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036412" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036413" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036414" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036415" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036416" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036417" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036418" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00079675" "" "" "" "1" "" "01728" "" "" "M" "no" "Cambodia" "" "0" "" "" "white" ""
"00079676" "" "" "" "1" "" "01728" "" "" "F" "no" "" "" "0" "" "" "white" ""
"00079677" "" "" "" "1" "" "01728" "" "Sib pair female and male" "F;M" "yes" "" "" "0" "" "" "Pakistani" ""
"00079678" "" "" "" "1" "" "01728" "" "" "M" "no" "" "" "0" "" "" "Pakistani" ""
"00079679" "" "" "" "1" "" "01728" "" "" "M" "yes" "" "" "0" "" "" "Turkish" ""
"00079712" "" "" "" "1" "" "01728" "" "" "M" "yes" "" "" "0" "" "" "Indian" ""
"00079713" "" "" "" "1" "" "01728" "" "" "M" "yes" "" "" "0" "" "" "Indian" ""
"00081022" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" ""
"00217168" "" "" "" "1" "" "00006" "{PMID:Houlden 2001:11310631}" "5-generation family, 1 affected, unaffected carriers" "M" "yes" "Pakistan" "" "0" "" "" "" "11310631-PatV2"
"00217169" "" "" "" "1" "" "00006" "{PMID:Wieczorek 2008:18657423}" "" "" "no" "Sweden" "" "0" "" "" "" "18657423-Pat"
"00217170" "" "" "" "1" "" "00052" "{PMID:Lee 2009:19618435}" "" "" "" "Korea" "" "0" "" "" "" "19618435-Pat2"
"00217171" "" "" "" "1" "" "00052" "{PMID:Indo 2001:11668614}" "" "M" "" "Italy" "" "0" "" "" "" "11668614-KI113"
"00217172" "" "" "" "1" "" "00052" "{PMID:Indo 2001:11668614}" "" "F" "" "Kuwait" "" "0" "" "" "" "11668614-KI111"
"00217173" "" "" "" "1" "" "00006" "{PMID:Ohto 2004:15534759}" "" "F" "" "Japan" "" "0" "" "" "" ""
"00217174" "" "" "" "1" "" "00052" "{PMID:Bonkowsky 2001:12949319}" "" "M" "" "United States" "" "0" "" "" "white" "12949319-Pat"
"00217175" "" "" "" "1" "" "00052" "{PMID:Indo 1996:8696348}" "2-generation family, 1 affected" "F" "" "Japan" "" "0" "" "" "" "08696348-KI01"
"00217176" "" "" "" "1" "" "00006" "{PMID:Huehne 2008:18077166}" "3-generation family, 1 affected" "" "no" "France" "" "0" "" "" "" "18077166-ER21691"
"00217177" "" "" "" "3" "" "00006" "{PMID:Huehne 2008:18077166}" "4-generation family, 3 affecteds" "" "yes" "Turkey" "" "0" "" "" "" "18077166-ER16407"
"00217178" "" "" "" "1" "" "00052" "{PMID:Indo 1996:8696348}" "2-generation family, 1 affected" "F" "" "Japan" "" "0" "" "" "" "08696348-KI02"
"00217179" "" "" "" "2" "" "00006" "{PMID:Yotsumoto 1999:10233776}" "5-generation family, 2 affecteds" "" "yes" "Japan" "" "0" "" "" "" "10233776-Pat"
"00217180" "" "" "" "2" "" "00006" "{PMID:Rotthier 2009:19651702}" "patient and affected sibling" "" "" "Netherlands" "" "0" "" "" "Moroccan" "19651702-CMT841.01"
"00217182" "" "" "" "1" "" "00052" "{PMID:Mardy 1999:10330344}" "" "" "no" "Italy" "" "0" "" "" "" "10330344-KI107"
"00217183" "" "" "" "1" "" "00052" "{PMID:Bodzioch 2000:11139246}" "3-generation family, 1 affected" "M" "" "Poland" "" "0" "" "" "" "11139246-Pat"
"00217185" "" "" "" "1" "" "00006" "{PMID:Indo 1996:8696348}" "2nd patient" "" "" "Japan" "" "0" "" "" "" "08696348-PatX"
"00217186" "" "" "" "8" "" "00052" "{PMID:Shatzky 2000:10861667}" "8 different families" "" "" "Israel" "" "0" "" "" "Bedouin" "10861667-Fam"
"00217187" "" "" "" "1" "" "00052" "{PMID:Verpoorten 2005:16373086}, {PMID:Rotthier 2009:19651702}" "" "F" "yes" "Netherlands" "" "0" "" "" "Moroccan" "16373086-PN1192.3"
"00217188" "" "" "" "1" "" "00052" "{PMID:Mardy 1999:10330344}" "2-generation family, 1 affected, unaffected carrier parents" "M" "yes" "Spain" "" "0" "" "" "" "10330344-KI104"
"00217189" "" "" "" "2" "" "00052" "{PMID:Mardy 1999:10330344}" "2-generation family, 2 affecteds, unaffected carrier parents/2 brothers" "F" "yes" "Kuwait" "" "0" "" "" "" "10330344-KI103"
"00217191" "" "" "" "1" "" "00052" "{PMID:Lin 2010:20647579}" "2-generation family, 1 affected, unaffected parents" "" "" "Taiwan" "" "0" "" "" "" "20647579-Pat"
"00217192" "" "" "" "2" "" "00052" "{PMID:Mardy 1999:10330344}" "2-generation family, 2 affected sisters, unaffected carrier parents/sister" "F" "yes" "Kuwait" "" "0" "" "" "" "10330344-KI105"
"00217193" "" "" "" "3" "" "00052" "{PMID:Shalimar 2007:18162686}" "3-generation family, 3 affecteds" "" "" "Malaysia" "" "0" "" "" "" "18162686-Pat"
"00217194" "" "" "" "1" "" "00052" "{PMID:Indo 2001:11668614}" "" "F" "" "Japan" "" "0" "" "" "" "11668614-KI25"
"00217195" "" "" "" "1" "" "00052" "{PMID:Huehne 2008:18077166}" "2-generation family, 1 affected" "" "no" "Germany" "" "0" "" "" "" "18077166-ER16901"
"00217196" "" "" "" "2" "" "00052" "{PMID:Huehne 2008:18077166}" "2-generation family, 2 affecteds, unaffected carrier parents/2 brothers" "" "yes" "Turkey" "" "0" "" "" "" "18077166-ER21357"
"00217197" "" "" "" "1" "" "00052" "{PMID:Lee 2009:19618435}" "" "" "" "Korea" "" "0" "" "" "" "19618435-Pat1"
"00217198" "" "" "" "1" "" "00052" "{PMID:Indo 2001:11668614}" "" "F" "" "Italy" "" "0" "" "" "" "11668614-KI114"
"00217199" "" "" "" "1" "" "00052" "{PMID:Indo 2001:11668614}" "" "F" "" "Netherlands" "" "0" "" "" "" "11668614-KI116"
"00217201" "" "" "" "1" "" "00052" "{PMID:Tuysuz 2008:18322713}" "3-generation family, 1 affected" "" "yes" "Turkey" "" "0" "" "" "" "18322713-NG46"
"00217202" "" "" "" "1" "" "00052" "{PMID:Greco 1999:10090906}" "2-generation family, 1 affected" "M" "" "Italy" "" "0" "" "" "" "10090906-Pat1"
"00217203" "" "" "" "1" "" "00052" "{PMID:Tuysuz 2008:18322713}" "4-generation family, 1 affected" "" "yes" "Turkey" "" "0" "" "" "" "18322713-NG72"
"00217204" "" "" "" "1" "" "00052" "{PMID:Mardy 1999:10330344}" "2-generation family, 1 affected, unaffected carrier parents" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "10330344-KI102"
"00217205" "" "" "" "1" "" "00052" "{PMID:Mardy 1999:10330344}" "2-generation family, 1 affected, unaffected carrier parents" "F" "yes" "Italy" "" "0" "" "" "" "10330344-KI106"
"00217206" "" "" "" "1" "" "00052" "{PMID:Lee 2009:19618435}" "" "" "" "Korea" "" "0" "" "" "" "19618435-Pat3"
"00217207" "" "" "" "1" "" "00052" "{PMID:Tuysuz 2008:18322713}" "3-generation family, 1 affected" "" "yes" "Turkey" "" "0" "" "" "" "18322713-NG48"
"00217208" "" "" "" "1" "" "00052" "{PMID:Tuysuz 2008:18322713}" "3-generation family, 1 affected" "" "yes" "Turkey" "" "0" "" "" "" "18322713-NG51"
"00217209" "" "" "" "1" "" "00052" "{PMID:Indo 2001:11668614}" "" "M" "" "Kuwait" "" "0" "" "" "" "11668614-KI109"
"00217210" "" "" "" "1" "" "00052" "{PMID:Verpoorten 2005:16373086}, {PMID:Rotthier 2009:19651702}" "" "M" "" "Belgium" "" "0" "" "" "" "16373086-CMT179.1"
"00217211" "" "" "" "1" "" "00052" "{PMID:Mardy 1999:10330344}" "" "" "no" "Canada" "" "0" "" "" "Czech;UK-German" "10330344-KI108"
"00217212" "" "" "" "1" "" "00006" "{PMID:Huehne 2008:18077166}" "" "" "no" "Germany" "" "0" "" "" "" "18077166-ER20374"
"00217214" "" "" "" "2" "" "00006" "{PMID:Indo 1996:8696348}" "2-generation family, 2 affected brothers (GM08382, GM08383)" "M" "" "Ecuador" "" "0" "" "" "" "08696348-GM08382"
"00217217" "" "" "" "8" "" "00052" "{PMID:Shatzky 2000:10861667}" "8 different patients" "" "" "Israel" "" "0" "" "" "Bedouin" "10861667-Pat"
"00217218" "" "" "" "1" "" "00052" "{PMID:Shatzky 2000:10861667}" "" "" "" "Israel" "" "0" "" "" "Bedouin" "10861667-con"
"00217219" "" "" "" "1" "" "00052" "{PMID:Shatzky 2000:10861667}" "" "" "" "Israel" "" "0" "" "" "Bedouin" "10861667-con"
"00217220" "" "" "" "1" "" "00052" "{PMID:Shatzky 2000:10861667}" "" "" "" "Israel" "" "0" "" "" "Bedouin" "10861667-FamNor"
"00217221" "" "" "" "1" "" "00052" "{PMID:Shatzky 2000:10861667}" "" "" "" "Israel" "" "0" "" "" "Bedouin" "10861667-con"
"00217222" "" "" "" "1" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-KI03"
"00217223" "" "" "" "1" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-KI04"
"00217224" "" "" "" "1" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-KI05"
"00217225" "" "" "" "1" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-KI06"
"00217226" "" "" "" "1" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-KI07"
"00217227" "" "" "" "1" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-KI08"
"00217228" "" "" "" "1" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-KI09"
"00217229" "" "" "" "1" "" "00052" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-KI10"
"00217230" "" "" "" "1" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-KI11"
"00217231" "" "" "" "1" "" "00052" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-KI12"
"00217232" "" "" "" "1" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-KI13"
"00217233" "" "" "" "1" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-KI14"
"00217234" "" "" "" "1" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-KI15"
"00217235" "" "" "" "1" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-KI16"
"00217236" "" "" "" "1" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-KI17"
"00217237" "" "" "" "1" "" "00006" "{PMID:Miura 2000:10982191}, {OMIM191315:0007}" "" "" "" "Japan" "" "0" "" "" "" "10982191-KI18"
"00217238" "" "" "" "1" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-KI19"
"00217239" "" "" "" "1" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-KI20"
"00217240" "" "" "" "1" "" "00006" "{PMID:Miura 2000:10982191}" "2-generation family, 1 affected" "" "" "Japan" "" "0" "" "" "" "10982191-KI21"
"00217241" "" "" "" "1" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-KI22"
"00217242" "" "" "" "1" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-KI23"
"00217243" "" "" "" "5" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-con"
"00217244" "" "" "" "2" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-con"
"00217245" "" "" "" "97" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-con"
"00217246" "" "" "" "55" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-con"
"00217247" "" "" "" "42" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-con"
"00217248" "" "" "" "5" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-con"
"00217249" "" "" "" "4" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-con"
"00217250" "" "" "" "38" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-con"
"00217251" "" "" "" "9" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-con"
"00217252" "" "" "" "3" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-con"
"00217253" "" "" "" "4" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-con"
"00217254" "" "" "" "40" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-con"
"00217255" "" "" "" "12" "" "00006" "{PMID:Miura 2000:10982191}" "" "" "" "Japan" "" "0" "" "" "" "10982191-con"
"00217258" "" "" "" "12" "" "00006" "{PMID:Bodzioch 2000:11139246}" "" "" "" "Germany" "" "0" "" "" "" "11139246-con"
"00217259" "" "" "" "12" "" "00006" "{PMID:Bodzioch 2000:11139246}" "" "" "" "Germany" "" "0" "" "" "" "11139246-con"
"00217260" "" "" "" "1" "" "00006" "{PMID:Bodzioch 2000:11139246}" "" "" "" "Germany" "" "0" "" "" "" "11139246-con"
"00217261" "" "" "" "18" "" "00006" "{PMID:Houlden 2001:11310631}" "" "" "" "" "" "0" "" "" "" "11310631-con"
"00217262" "" "" "" "1" "" "00006" "{PMID:Houlden 2001:11310631}" "" "" "" "" "" "0" "" "" "" "11310631-con"
"00217263" "" "" "" "1" "" "00006" "{PMID:Houlden 2001:11310631}" "" "" "" "" "" "0" "" "" "" "11310631-con"
"00217264" "" "" "" "1" "" "00052" "{PMID:Indo 2001:11668614}" "" "M" "" "Kuwait" "" "0" "" "" "" "11668614-KI110"
"00217265" "" "" "" "1" "" "00052" "{PMID:Indo 2001:11668614}" "" "M" "" "Italy" "" "0" "" "" "" "11668614-KI112"
"00217266" "" "" "" "1" "" "00052" "{PMID:Indo 2001:11668614}" "" "M" "" "United States" "" "0" "" "" "Mexico" "11668614-KI115"
"00217267" "" "" "" "1" "" "00052" "{PMID:Verpoorten 2005:16373086}, {PMID:Rotthier 2009:19651702}" "" "M" "" "Belgium" "" "0" "" "" "" "16373086-CMT197.1"
"00217268" "" "" "" "1" "" "00052" "{PMID:Verpoorten 2005:16373086}, {PMID:Rotthier 2009:19651702}" "" "F" "" "Netherlands" "" "0" "" "" "" "16373086-CMT366.1"
"00217269" "" "" "" "1" "" "00006" "{PMID:Verpoorten 2005:16373086}" "" "" "no" "Belgium" "" "0" "" "" "" "16373086-con"
"00217270" "" "" "" "1" "" "00006" "{PMID:Verpoorten 2005:16373086}" "" "" "no" "Belgium" "" "0" "" "" "" "16373087-con"
"00217271" "" "" "" "1" "" "00006" "{PMID:Verpoorten 2005:16373086}" "" "" "no" "Belgium" "" "0" "" "" "" "16373088-con"
"00217272" "" "" "" "1" "" "00006" "{PMID:Verpoorten 2005:16373086}" "" "" "no" "Belgium" "" "0" "" "" "" "16373089-con"
"00217273" "" "" "" "1" "" "00006" "{PMID:Verpoorten 2005:16373086}" "" "" "no" "Belgium" "" "0" "" "" "" "16373090-con"
"00217274" "" "" "" "1" "" "00006" "{PMID:Verpoorten 2005:16373086}" "" "" "no" "Belgium" "" "0" "" "" "" "16373091-con"
"00217275" "" "" "" "1" "" "00006" "{PMID:Verpoorten 2005:16373086}" "" "" "no" "Belgium" "" "0" "" "" "" "16373092-con"
"00217276" "" "" "" "1" "" "00006" "{PMID:Verpoorten 2005:16373086}" "" "" "no" "Belgium" "" "0" "" "" "" "16373092-con"
"00217277" "" "" "" "1" "" "00006" "{PMID:Verpoorten 2005:16373086}" "" "" "no" "Belgium" "" "0" "" "" "" "16373092-con"
"00217278" "" "" "" "1" "" "00006" "{PMID:Verpoorten 2005:16373086}" "" "" "no" "Belgium" "" "0" "" "" "" "16373092-con"
"00217279" "" "" "" "1" "" "00006" "{PMID:Verpoorten 2005:16373086}" "" "" "no" "Belgium" "" "0" "" "" "" "16373092-con"
"00217280" "" "" "" "1" "" "00006" "{PMID:Verpoorten 2005:16373086}" "" "" "no" "Belgium" "" "0" "" "" "" "16373092-con"
"00217281" "" "" "" "1" "" "00052" "{PMID:Tuysuz 2008:18322713}" "3-generation family, 1 affected" "" "yes" "Turkey" "" "0" "" "" "" "18322713-NG80"
"00217282" "" "" "" "1" "" "00052" "{PMID:Tuysuz 2008:18322713}" "5-generation family, 1 affected" "" "yes" "Turkey" "" "0" "" "" "" "18322713-NG73"
"00217284" "" "" "" "1" "" "00006" "{PMID:Rotthier 2009:19651702}" "" "" "" "Spain" "" "0" "" "" "" "19651702-CMT826.01"
"00217285" "" "" "" "1" "" "00006" "{PMID:Rotthier 2009:19651702}" "" "" "" "Turkey" "" "0" "" "" "" "19651702-CMT886.01"
"00217286" "" "" "" "2" "" "00006" "{PMID:Lipska 2009:20003389}" "" "" "" "Poland;Italy" "" "0" "" "" "" "20003389-Pat"
"00217287" "" "" "" "1" "" "00006" "{PMID:Lipska 2009:20003389}" "" "" "" "Poland;Italy" "" "0" "" "" "" "20003389-Pat"
"00217288" "" "" "" "1" "" "00006" "{PMID:Lipska 2009:20003389}" "" "" "" "Poland;Italy" "" "0" "" "" "" "20003389-Pat"
"00217289" "" "" "" "1" "" "00052" "{PMID:Lipska 2009:20003389}" "" "" "" "Poland;Italy" "" "0" "" "" "" "20003389-Pat"
"00217290" "" "" "" "1" "" "00052" "{PMID:Lipska 2009:20003389}" "" "" "" "Poland;Italy" "" "0" "" "" "" "20003389-Pat"
"00217291" "" "" "" "1" "" "00006" "{PMID:Lipska 2009:20003389}" "" "" "" "Poland;Italy" "" "0" "" "" "" "20003389-Pat"
"00217292" "" "" "" "1" "" "00006" "{PMID:Lipska 2009:20003389}" "" "" "" "Poland;Italy" "" "0" "" "" "" "20003389-Pat"
"00217293" "" "" "" "1" "" "00052" "{PMID:Lipska 2009:20003389}" "" "" "" "Poland;Italy" "" "0" "" "" "" "20003389-Pat"
"00217294" "" "" "" "2" "" "00052" "{PMID:Lipska 2009:20003389}" "" "" "" "Poland;Italy" "" "0" "" "" "" "20003389-Pat"
"00217295" "" "" "" "1" "" "00006" "{PMID:Lipska 2009:20003389}" "" "" "" "Poland;Italy" "" "0" "" "" "" "20003389-Pat"
"00217296" "" "" "" "1" "" "00006" "{PMID:Lipska 2009:20003389}" "" "" "" "Poland;Italy" "" "0" "" "" "" "20003389-Pat"
"00217297" "" "" "" "1" "" "00006" "{PMID:Lipska 2009:20003389}" "" "" "" "Poland;Italy" "" "0" "" "" "" "20003389-Pat"
"00217298" "" "" "" "1" "" "00052" "{PMID:Lee 2009:19618435}" "" "" "" "Korea" "" "0" "" "" "" "19618435-Pat4"
"00218057" "" "" "" "2" "" "00006" "{PMID:Suriu 2009:19250380}" "3-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F;M" "no" "Israel" "" "0" "" "" "Morocco;Jewish" "19250380-Fam1"
"00218058" "" "" "" "2" "" "00006" "{PMID:Suriu 2009:19250380}" "42-generation family, affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Morocco" "" "0" "" "" "" "19250380-Fam2"
"00218059" "" "" "" "1" "" "00006" "{PMID:Sarasola 2011:21708027}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "no" "Spain" "" "0" "" "" "" "21708027-Pat"
"00269906" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" ""
"00289543" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00289544" "" "" "" "245" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304148" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00361766" "" "" "" "1" "" "03219" "" "" "" "" "" "" "" "" "" "" ""
"00361894" "" "" "" "1" "" "03219" "" "" "" "" "" "" "" "" "" "" ""
"00374427" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5459"
"00374428" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-6052"
"00374616" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3450"
"00380510" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP59"
"00380540" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP145"
"00380790" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?"
"00403878" "" "" "" "1" "" "00006" "{PMID:Froukh 2020:32056211}" "analysis 103 families with neurodevelopmental disorders" "F" "" "Jordan" "" "0" "" "" "" "TF094_8"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 148
"{{individualid}}" "{{diseaseid}}"
"00036403" "00198"
"00079675" "01971"
"00079676" "01971"
"00079677" "01971"
"00079678" "01971"
"00079679" "01971"
"00079712" "01971"
"00079713" "01971"
"00081022" "01971"
"00217168" "01971"
"00217169" "01971"
"00217170" "01971"
"00217171" "01971"
"00217172" "01971"
"00217173" "01971"
"00217174" "01971"
"00217175" "01971"
"00217176" "01971"
"00217177" "01971"
"00217178" "01971"
"00217179" "01971"
"00217180" "01971"
"00217182" "01971"
"00217183" "01971"
"00217185" "01971"
"00217186" "01971"
"00217187" "01971"
"00217188" "01971"
"00217189" "01971"
"00217191" "01971"
"00217192" "01971"
"00217193" "01971"
"00217194" "01971"
"00217195" "01971"
"00217196" "01971"
"00217197" "01971"
"00217198" "01971"
"00217199" "01971"
"00217201" "01971"
"00217202" "01971"
"00217203" "01971"
"00217204" "01971"
"00217205" "01971"
"00217206" "01971"
"00217207" "01971"
"00217208" "01971"
"00217209" "01971"
"00217210" "01971"
"00217211" "01971"
"00217212" "01971"
"00217214" "01971"
"00217217" "01971"
"00217218" "00198"
"00217219" "00198"
"00217220" "01971"
"00217221" "00198"
"00217222" "01971"
"00217223" "01971"
"00217224" "01971"
"00217225" "01971"
"00217226" "01971"
"00217227" "01971"
"00217228" "01971"
"00217229" "01971"
"00217230" "01971"
"00217231" "01971"
"00217232" "01971"
"00217233" "01971"
"00217234" "01971"
"00217235" "01971"
"00217236" "01971"
"00217237" "01971"
"00217238" "01971"
"00217239" "01971"
"00217240" "01971"
"00217241" "01971"
"00217242" "01971"
"00217243" "00198"
"00217244" "00198"
"00217245" "00198"
"00217246" "00198"
"00217247" "00198"
"00217248" "00198"
"00217249" "00198"
"00217250" "00198"
"00217251" "00198"
"00217252" "00198"
"00217253" "00198"
"00217254" "00198"
"00217255" "00198"
"00217258" "00198"
"00217259" "00198"
"00217260" "00198"
"00217261" "00198"
"00217262" "00198"
"00217263" "00198"
"00217264" "01971"
"00217265" "01971"
"00217266" "01971"
"00217266" "02045"
"00217267" "01971"
"00217268" "01971"
"00217269" "00198"
"00217270" "00198"
"00217271" "00198"
"00217272" "00198"
"00217273" "00198"
"00217274" "00198"
"00217275" "00198"
"00217276" "00198"
"00217277" "00198"
"00217278" "00198"
"00217279" "00198"
"00217280" "00198"
"00217281" "01971"
"00217282" "01971"
"00217284" "01971"
"00217285" "01971"
"00217286" "00198"
"00217287" "00198"
"00217288" "00198"
"00217289" "00198"
"00217290" "00198"
"00217291" "00198"
"00217292" "00198"
"00217293" "00198"
"00217294" "00198"
"00217295" "00198"
"00217296" "00198"
"00217297" "00198"
"00217298" "01971"
"00218057" "01971"
"00218058" "01872"
"00218059" "01971"
"00269906" "00198"
"00289543" "00198"
"00289544" "00198"
"00304148" "00198"
"00361766" "01971"
"00361894" "01825"
"00361894" "01971"
"00374427" "00198"
"00374428" "00198"
"00374616" "00198"
"00380510" "00198"
"00380540" "00198"
"00380790" "01971"
"00403878" "05611"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 01825, 01872, 01971, 02045, 05611
## Count = 143
"{{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}}"
"0000059589" "01971" "00079675" "01728" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000059590" "01971" "00079679" "01728" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000059591" "01971" "00079678" "01728" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000059592" "01971" "00079677" "01728" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000059593" "01971" "00079713" "01728" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000060591" "01971" "00081022" "01758" "Familial, autosomal recessive" "" "Insensitivity to pain, congenital, with anhidrosis (OMIM:256800)" "" "" "" "" "" "" "" "" "" "" ""
"0000156519" "00198" "00036403" "01164" "Unknown" "" "azoospermia" "" "" "" "" "" "" "" "" "" "azoospermia" ""
"0000165619" "01971" "00217168" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "hereditary sensory and autonomic neuropathy" ""
"0000165620" "01971" "00217169" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "hereditary sensory and autonomic neuropathy" ""
"0000165621" "01971" "00217170" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165622" "01971" "00217171" "00052" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165623" "01971" "00217172" "00052" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165624" "01971" "00217173" "00006" "Isolated (sporadic)" "" "frequent bone fractures, absent sweating" "" "" "" "" "" "" "" "" "CIPA" "hereditary sensory and autonomic neuropathy" ""
"0000165625" "01971" "00217174" "00052" "Isolated (sporadic)" "" "ooth loss, palmarhperkeratosis" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165626" "01971" "00217175" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165627" "01971" "00217176" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "hereditary sensory and autonomic neuropathy" ""
"0000165628" "01971" "00217177" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "hereditary sensory and autonomic neuropathy" ""
"0000165629" "01971" "00217178" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165630" "01971" "00217179" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165631" "01971" "00217180" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "hereditary sensory and autonomic neuropathy" ""
"0000165633" "01971" "00217182" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165634" "01971" "00217183" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165636" "01971" "00217185" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165637" "01971" "00217186" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165638" "01971" "00217187" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "hereditary sensory and autonomic neuropathy" ""
"0000165639" "01971" "00217188" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165640" "01971" "00217189" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165642" "01971" "00217191" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165643" "01971" "00217192" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165644" "01971" "00217193" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165645" "01971" "00217194" "00052" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165646" "01971" "00217195" "00052" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "hereditary sensory and autonomic neuropathy" ""
"0000165647" "01971" "00217196" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "CIPA" "hereditary sensory and autonomic neuropathy" ""
"0000165648" "01971" "00217197" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165649" "01971" "00217198" "00052" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165650" "01971" "00217199" "00052" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165652" "01971" "00217201" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "hereditary sensory and autonomic neuropathy" ""
"0000165653" "01971" "00217202" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165654" "01971" "00217203" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "hereditary sensory and autonomic neuropathy" ""
"0000165655" "01971" "00217204" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165656" "01971" "00217205" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165657" "01971" "00217206" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165658" "01971" "00217207" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "hereditary sensory and autonomic neuropathy" ""
"0000165659" "01971" "00217208" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "hereditary sensory and autonomic neuropathy" ""
"0000165660" "01971" "00217209" "00052" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165661" "01971" "00217210" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "hereditary sensory and autonomic neuropathy" ""
"0000165662" "01971" "00217211" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165663" "01971" "00217212" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "hereditary sensory and autonomic neuropathy" ""
"0000165665" "01971" "00217214" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165668" "01971" "00217217" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165669" "00198" "00217218" "00052" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165670" "00198" "00217219" "00052" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165671" "01971" "00217220" "00052" "Familial" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165672" "00198" "00217221" "00052" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165673" "01971" "00217222" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165674" "01971" "00217223" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165675" "01971" "00217224" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165676" "01971" "00217225" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165677" "01971" "00217226" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165678" "01971" "00217227" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165679" "01971" "00217228" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165680" "01971" "00217229" "00052" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165681" "01971" "00217230" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165682" "01971" "00217231" "00052" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165683" "01971" "00217232" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165684" "01971" "00217233" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165685" "01971" "00217234" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165686" "01971" "00217235" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165687" "01971" "00217236" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165688" "01971" "00217237" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165689" "01971" "00217238" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165690" "01971" "00217239" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165691" "01971" "00217240" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165692" "01971" "00217241" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165693" "01971" "00217242" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165694" "00198" "00217243" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165695" "00198" "00217244" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165696" "00198" "00217245" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165697" "00198" "00217246" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165698" "00198" "00217247" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165699" "00198" "00217248" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165700" "00198" "00217249" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165701" "00198" "00217250" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165702" "00198" "00217251" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165703" "00198" "00217252" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165704" "00198" "00217253" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165705" "00198" "00217254" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165706" "00198" "00217255" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165709" "00198" "00217258" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165710" "00198" "00217259" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165711" "00198" "00217260" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165712" "00198" "00217261" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165713" "00198" "00217262" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165714" "00198" "00217263" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165715" "01971" "00217264" "00052" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165716" "01971" "00217265" "00052" "Unknown" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165717" "01971" "00217266" "00052" "Unknown" "" "pyruvate kinase deficiency" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000165718" "01971" "00217267" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "hereditary sensory and autonomic neuropathy" ""
"0000165719" "01971" "00217268" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "hereditary sensory and autonomic neuropathy" ""
"0000165720" "00198" "00217269" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165721" "00198" "00217270" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165722" "00198" "00217271" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165723" "00198" "00217272" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165724" "00198" "00217273" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165725" "00198" "00217274" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165726" "00198" "00217275" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165727" "00198" "00217276" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165728" "00198" "00217277" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165729" "00198" "00217278" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165730" "00198" "00217279" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165731" "00198" "00217280" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "-" ""
"0000165732" "01971" "00217281" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "hereditary sensory and autonomic neuropathy" ""
"0000165733" "01971" "00217282" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "hereditary sensory and autonomic neuropathy" ""
"0000165735" "01971" "00217284" "00006" "Isolated (sporadic)" "" "hypogammaglobulinemia" "" "" "" "" "" "" "" "" "CIPA" "hereditary sensory and autonomic neuropathy" ""
"0000165736" "01971" "00217285" "00006" "Isolated (sporadic)" "" "hypogammaglobulinemia" "" "" "" "" "" "" "" "" "CIPA" "hereditary sensory and autonomic neuropathy" ""
"0000165737" "00198" "00217286" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuroblastoma" ""
"0000165738" "00198" "00217287" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuroblastoma" ""
"0000165739" "00198" "00217288" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuroblastoma" ""
"0000165740" "00198" "00217289" "00052" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuroblastoma" ""
"0000165741" "00198" "00217290" "00052" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuroblastoma" ""
"0000165742" "00198" "00217291" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuroblastoma" ""
"0000165743" "00198" "00217292" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuroblastoma" ""
"0000165744" "00198" "00217293" "00052" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuroblastoma" ""
"0000165745" "00198" "00217294" "00052" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuroblastoma" ""
"0000165746" "00198" "00217295" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuroblastoma" ""
"0000165747" "00198" "00217296" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuroblastoma, reduced survival" ""
"0000165748" "00198" "00217297" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuroblastoma" ""
"0000165749" "01971" "00217298" "00052" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" ""
"0000166509" "02045" "00217266" "00006" "Familial, autosomal recessive" "" "pyruvate kinase deficiency" "" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" ""
"0000166510" "01971" "00218057" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CIPA" "congenital insensitivity to pain and anhidrosis" ""
"0000166511" "01971" "00218058" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CIPA" "congenital insensitivity to pain and anhidrosis" ""
"0000166512" "01971" "00218059" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "00y08m" "" "" "" "" "" "" "CIPA" "congenital insensitivity to pain and anhidrosis" ""
"0000207702" "00198" "00269906" "01807" "Unknown" "" "Localized skin lesion (HP:0011355)" "" "" "" "" "" "" "" "" "" "" ""
"0000257159" "01971" "00361766" "03219" "Familial, autosomal recessive" "" "Developmental delay, increased serum creatine phosphokinase, family history of elder sibling with pain insensitivity" "" "" "" "" "" "" "" "" "" "" ""
"0000257287" "01825" "00361894" "03219" "Familial, autosomal recessive" "" "Developmental delay, increased serum creatine phosphokinase" "" "" "" "" "" "" "" "" "" "" ""
"0000257288" "01971" "00361894" "03219" "Familial, autosomal recessive" "" "family history of elder sibling with pain insensitivity" "" "" "" "" "" "" "" "" "" "" ""
"0000269637" "00198" "00374427" "00006" "Familial, autosomal recessive" "" "Recurrent fracture of long bones, decreased or absent sweating and insensitivity to pain" "" "" "" "" "" "" "" "" "" "neuropathy" ""
"0000269638" "00198" "00374428" "00006" "Familial, autosomal recessive" "" "Developmental delay, self mutilation, early exfoliation of teeth, dislocation of bilateral hip joint, temperature instability and decreased sweating" "" "" "" "" "" "" "" "" "" "neuropathy" ""
"0000269826" "00198" "00374616" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "neuropathy" ""
"0000274362" "00198" "00380510" "00000" "Familial, autosomal recessive" "4y" "" "" "" "" "" "" "" "" "" "Hereditary Sensory and Autonomic Neuropathy IV" "" ""
"0000274392" "00198" "00380540" "00000" "Familial, autosomal recessive" "2y" "" "" "" "" "" "" "" "" "" "Hereditary Sensory and Autonomic Neuropathy IV" "" ""
"0000274643" "01971" "00380790" "00000" "Familial" "" "DD; ID; anhydrosis; insensitivity to pain (Neurological)" "" "" "" "" "" "" "" "" "Insensitivity to pain, congenital, with anhidrosis" "" ""
"0000296558" "05611" "00403878" "00006" "Familial, autosomal recessive" "" "very mild intellectual disability, no microcephaly, eczema hands and feet, insensitive to pain" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ""
## Screenings ## Do not remove or alter this header ##
## Count = 164
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000009" "00000009" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" ""
"0000000026" "00000026" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" ""
"0000000063" "00000063" "1" "00004" "" "2012-05-11 13:18:54" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" ""
"0000036473" "00036403" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036474" "00036404" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036475" "00036405" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036476" "00036406" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036477" "00036407" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036478" "00036408" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036479" "00036409" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036480" "00036410" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036481" "00036411" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036482" "00036412" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036483" "00036413" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036484" "00036414" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036485" "00036415" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036486" "00036416" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036487" "00036417" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036488" "00036418" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000079749" "00079675" "1" "01728" "01728" "2016-08-19 11:09:00" "" "" "SEQ" "DNA" "" ""
"0000079750" "00079676" "1" "01728" "01728" "2016-08-19 11:34:15" "" "" "SEQ" "DNA" "" ""
"0000079751" "00079677" "1" "01728" "01728" "2016-08-19 12:35:29" "" "" "SEQ" "DNA" "" ""
"0000079752" "00079678" "1" "01728" "01728" "2016-08-19 12:40:19" "" "" "SEQ" "DNA" "" ""
"0000079753" "00079679" "1" "01728" "01728" "2016-08-19 12:43:08" "" "" "SEQ" "DNA" "" ""
"0000079786" "00079712" "1" "01728" "01728" "2016-08-19 12:45:49" "" "" "SEQ" "DNA" "" ""
"0000079787" "00079713" "1" "01728" "01728" "2016-08-19 12:48:12" "" "" "SEQ" "DNA" "" ""
"0000081134" "00081022" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000218237" "00217168" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218238" "00217169" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218239" "00217170" "1" "00052" "00006" "2011-07-28 14:29:55" "00006" "2011-08-02 16:31:15" "SEQ" "DNA" "" ""
"0000218240" "00217171" "1" "00052" "00006" "2011-07-27 16:21:58" "" "" "PCR;SEQ" "DNA" "" ""
"0000218241" "00217172" "1" "00052" "00006" "2011-07-27 16:00:40" "" "" "PCR;SEQ" "DNA" "" ""
"0000218242" "00217173" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218243" "00217174" "1" "00052" "00006" "2011-07-27 11:42:26" "00006" "2011-08-01 13:27:23" "SEQ" "DNA" "" ""
"0000218244" "00217175" "1" "00052" "00006" "2011-07-26 17:40:28" "" "" "SEQ" "DNA" "" ""
"0000218245" "00217176" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218246" "00217177" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218247" "00217178" "1" "00052" "00006" "2011-07-26 17:40:28" "" "" "SEQ" "DNA" "" ""
"0000218248" "00217179" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218249" "00217180" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000218251" "00217182" "1" "00052" "00006" "2011-07-26 20:34:24" "00006" "2011-07-27 15:53:00" "SEQ" "DNA" "" ""
"0000218252" "00217183" "1" "00052" "00006" "2011-07-27 20:15:23" "00006" "2011-07-29 15:03:47" "PCR;SEQ" "DNA" "" ""
"0000218254" "00217185" "1" "00006" "00006" "2011-07-26 17:40:28" "" "" "SEQ" "DNA" "" ""
"0000218255" "00217186" "1" "00052" "00006" "2011-07-27 15:49:00" "00006" "2011-07-29 14:25:13" "PCR;SEQ;SSCA" "DNA" "" ""
"0000218256" "00217187" "1" "00052" "00006" "2011-07-28 13:17:58" "" "" "SEQ" "DNA" "" ""
"0000218257" "00217188" "1" "00052" "00006" "2011-07-26 20:34:24" "00006" "2011-07-27 15:53:00" "SEQ" "DNA" "" ""
"0000218258" "00217189" "1" "00052" "00006" "2011-07-26 20:34:24" "00006" "2011-07-27 15:53:00" "SEQ" "DNA" "" ""
"0000218260" "00217191" "1" "00052" "00006" "2011-07-28 16:24:29" "" "" "SEQ" "DNA" "" ""
"0000218261" "00217192" "1" "00052" "00006" "2011-07-26 20:34:24" "00006" "2011-07-27 15:53:00" "SEQ" "DNA" "" ""
"0000218262" "00217193" "1" "00052" "00006" "2011-07-28 15:56:46" "00006" "2011-08-04 10:15:27" "SEQ" "DNA" "" ""
"0000218263" "00217194" "1" "00052" "00006" "2011-07-27 17:18:58" "" "" "PCR;SEQ" "DNA" "" ""
"0000218264" "00217195" "1" "00052" "00006" "2011-07-28 14:16:53" "" "" "SEQ" "DNA" "" ""
"0000218265" "00217196" "1" "00052" "00006" "2011-07-28 14:16:53" "" "" "SEQ" "DNA" "" ""
"0000218266" "00217197" "1" "00052" "00006" "2011-07-28 14:29:55" "00006" "2011-08-02 16:31:15" "SEQ" "DNA" "" ""
"0000218267" "00217198" "1" "00052" "00006" "2011-07-27 16:38:08" "" "" "PCR;SEQ" "DNA" "" ""
"0000218268" "00217199" "1" "00052" "00006" "2011-07-27 16:38:08" "" "" "PCR;SEQ" "DNA" "" ""
"0000218270" "00217201" "1" "00052" "00006" "2011-07-28 18:02:13" "" "" "SEQ" "DNA" "" ""
"0000218271" "00217202" "1" "00052" "00006" "2011-07-26 18:18:30" "00006" "2011-07-26 20:58:51" "SEQ" "DNA" "" ""
"0000218272" "00217203" "1" "00052" "00006" "2011-07-28 18:02:13" "" "" "SEQ" "DNA" "" ""
"0000218273" "00217204" "1" "00052" "00006" "2011-07-26 20:34:24" "00006" "2011-07-27 15:53:00" "SEQ" "DNA" "" ""
"0000218274" "00217205" "1" "00052" "00006" "2011-07-26 20:34:24" "00006" "2011-07-27 15:53:00" "SEQ" "DNA" "" ""
"0000218275" "00217206" "1" "00052" "00006" "2011-07-28 14:29:55" "00006" "2011-08-02 16:31:15" "SEQ" "DNA" "" ""
"0000218276" "00217207" "1" "00052" "00006" "2011-07-28 17:37:45" "" "" "SEQ" "DNA" "" ""
"0000218277" "00217208" "1" "00052" "00006" "2011-07-28 18:02:13" "" "" "SEQ" "DNA" "" ""
"0000218278" "00217209" "1" "00052" "00006" "2011-07-27 15:45:01" "" "" "PCR;SEQ" "DNA" "" ""
"0000218279" "00217210" "1" "00052" "00006" "2011-07-28 13:17:58" "" "" "SEQ" "DNA" "" ""
"0000218280" "00217211" "1" "00052" "00006" "2011-07-26 20:34:24" "00006" "2011-07-27 15:53:00" "SEQ" "DNA" "" ""
"0000218281" "00217212" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218283" "00217214" "1" "00006" "00006" "2011-07-26 17:40:28" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000218286" "00217217" "1" "00052" "00006" "2011-07-27 15:49:00" "00006" "2011-07-29 14:25:13" "PCR;SEQ;SSCA" "DNA" "" ""
"0000218287" "00217218" "1" "00052" "00006" "2011-07-27 15:49:00" "00006" "2011-07-29 14:25:13" "PCR;SEQ;SSCA" "DNA" "" ""
"0000218288" "00217219" "1" "00052" "00006" "2011-07-27 15:49:00" "00006" "2011-07-29 14:25:13" "PCR;SEQ;SSCA" "DNA" "" ""
"0000218289" "00217220" "1" "00052" "00006" "2011-07-27 15:49:00" "00006" "2011-07-29 14:25:13" "PCR;SEQ;SSCA" "DNA" "" ""
"0000218290" "00217221" "1" "00052" "00006" "2011-07-27 15:49:00" "00006" "2011-07-29 14:25:13" "PCR;SEQ;SSCA" "DNA" "" ""
"0000218291" "00217222" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218292" "00217223" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218293" "00217224" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218294" "00217225" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218295" "00217226" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218296" "00217227" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218297" "00217228" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218298" "00217229" "1" "00052" "00006" "2011-07-26 17:40:28" "" "" "SEQ" "DNA" "" ""
"0000218299" "00217230" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218300" "00217231" "1" "00052" "00006" "2011-07-26 17:40:28" "" "" "SEQ" "DNA" "" ""
"0000218301" "00217232" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218302" "00217233" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218303" "00217234" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218304" "00217235" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218305" "00217236" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218306" "00217237" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218307" "00217238" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218308" "00217239" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218309" "00217240" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218310" "00217241" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218311" "00217242" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218312" "00217243" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218313" "00217244" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218314" "00217245" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218315" "00217246" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218316" "00217247" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218317" "00217248" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218318" "00217249" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218319" "00217250" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "PCR" "DNA" "" ""
"0000218320" "00217251" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "PCR" "DNA" "" ""
"0000218321" "00217252" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "PCR" "DNA" "" ""
"0000218322" "00217253" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "PCR" "DNA" "" ""
"0000218323" "00217254" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "PCR" "DNA" "" ""
"0000218324" "00217255" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "PCR" "DNA" "" ""
"0000218327" "00217258" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218328" "00217259" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218329" "00217260" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218330" "00217261" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218331" "00217262" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218332" "00217263" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218333" "00217264" "1" "00052" "00006" "2011-07-27 15:45:01" "" "" "PCR;SEQ" "DNA" "" ""
"0000218334" "00217265" "1" "00052" "00006" "2011-07-27 16:11:50" "" "" "PCR;SEQ" "DNA" "" ""
"0000218335" "00217266" "1" "00052" "00006" "2011-07-27 16:54:38" "" "" "PCR;SEQ" "DNA" "" ""
"0000218336" "00217267" "1" "00052" "00006" "2011-07-28 14:30:21" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000218337" "00217268" "1" "00052" "00006" "2011-07-28 13:17:58" "" "" "SEQ" "DNA" "" ""
"0000218338" "00217269" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218339" "00217270" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218340" "00217271" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218341" "00217272" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218342" "00217273" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218343" "00217274" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218344" "00217275" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218345" "00217276" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218346" "00217277" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218347" "00217278" "1" "00006" "00006" "2013-07-08 18:34:46" "" "" "SEQ" "DNA" "" ""
"0000218348" "00217279" "1" "00006" "00006" "2013-07-08 18:34:47" "" "" "SEQ" "DNA" "" ""
"0000218349" "00217280" "1" "00006" "00006" "2013-07-08 18:34:47" "" "" "SEQ" "DNA" "" ""
"0000218350" "00217281" "1" "00052" "00006" "2011-07-28 18:02:13" "" "" "SEQ" "DNA" "" ""
"0000218351" "00217282" "1" "00052" "00006" "2011-07-28 18:02:13" "" "" "SEQ" "DNA" "" ""
"0000218353" "00217284" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "SEQ" "DNA" "" ""
"0000218354" "00217285" "1" "00006" "00006" "2012-11-07 11:38:39" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000218355" "00217286" "1" "00006" "00006" "2013-07-08 18:34:47" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000218356" "00217287" "1" "00006" "00006" "2013-07-08 18:34:47" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000218357" "00217288" "1" "00006" "00006" "2013-07-08 18:34:47" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000218358" "00217289" "1" "00052" "00006" "2011-07-28 16:12:45" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000218359" "00217290" "1" "00052" "00006" "2011-07-28 16:12:45" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000218360" "00217291" "1" "00006" "00006" "2013-07-08 18:34:47" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000218361" "00217292" "1" "00006" "00006" "2013-07-08 18:34:47" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000218362" "00217293" "1" "00052" "00006" "2011-07-28 16:12:45" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000218363" "00217294" "1" "00052" "00006" "2011-07-28 16:12:45" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000218364" "00217295" "1" "00006" "00006" "2013-07-08 18:34:47" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000218365" "00217296" "1" "00006" "00006" "2013-07-08 18:34:47" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000218366" "00217297" "1" "00006" "00006" "2013-07-08 18:34:47" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000218367" "00217298" "1" "00052" "00006" "2011-07-28 14:29:55" "00006" "2011-08-02 16:31:15" "SEQ" "DNA" "" ""
"0000219128" "00218057" "1" "00006" "00006" "2019-01-19 13:04:15" "" "" "SEQ" "DNA" "" ""
"0000219129" "00218058" "1" "00006" "00006" "2019-01-19 13:07:47" "" "" "SEQ" "DNA" "" ""
"0000219130" "00218059" "1" "00006" "00006" "2019-01-19 15:47:03" "" "" "SEQ" "DNA" "" ""
"0000271059" "00269906" "1" "01807" "01807" "2019-12-10 12:32:22" "" "" "SEQ" "DNA" "" ""
"0000290711" "00289543" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000290712" "00289544" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000305277" "00304148" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000362994" "00361766" "1" "03219" "03219" "2021-04-10 06:08:51" "" "" "SEQ-NG" "DNA" "Peripheral blood" ""
"0000363122" "00361894" "1" "03219" "03219" "2021-04-12 05:43:53" "" "" "SEQ-NG" "DNA" "" ""
"0000375621" "00374427" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel"
"0000375622" "00374428" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel"
"0000375810" "00374616" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel"
"0000381723" "00380510" "1" "00000" "03840" "2021-08-18 14:23:07" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000381753" "00380540" "1" "00000" "03840" "2021-08-18 14:23:07" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000382004" "00380790" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing"
"0000405116" "00403878" "1" "00006" "00006" "2022-02-24 16:43:58" "" "" "SEQ;SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 197
"{{screeningid}}" "{{geneid}}"
"0000000009" "ACADM"
"0000000009" "ARSB"
"0000000009" "ATP7B"
"0000000009" "CFTR"
"0000000009" "CLN3"
"0000000009" "ETFB"
"0000000009" "GAN"
"0000000009" "GLB1"
"0000000009" "HEXB"
"0000000009" "IGHMBP2"
"0000000009" "MEFV"
"0000000009" "NHLRC1"
"0000000009" "NPHS1"
"0000000009" "NTRK1"
"0000000009" "PMP22"
"0000000009" "SERPINA1"
"0000000009" "WNT10A"
"0000000026" "AMPD1"
"0000000026" "ATP7B"
"0000000026" "CBS"
"0000000026" "CPT1A"
"0000000026" "ETFB"
"0000000026" "GLB1"
"0000000026" "GRHPR"
"0000000026" "HEXB"
"0000000026" "INVS"
"0000000026" "MECP2"
"0000000026" "MEFV"
"0000000026" "NHLRC1"
"0000000026" "NPHS1"
"0000000026" "NTRK1"
"0000000026" "SERPINA1"
"0000000026" "SLC26A2"
"0000000063" "ADA"
"0000000063" "ATP7B"
"0000000063" "COL7A1"
"0000000063" "ETFB"
"0000000063" "GLB1"
"0000000063" "LYST"
"0000000063" "MEFV"
"0000000063" "NHLRC1"
"0000000063" "NPHS1"
"0000000063" "NTRK1"
"0000000063" "SERPINA1"
"0000036473" "NTRK1"
"0000036474" "NTRK1"
"0000036475" "NTRK1"
"0000036476" "NTRK1"
"0000036477" "NTRK1"
"0000036478" "NTRK1"
"0000036479" "NTRK1"
"0000036480" "NTRK1"
"0000036481" "NTRK1"
"0000036482" "NTRK1"
"0000036483" "NTRK1"
"0000036484" "NTRK1"
"0000036485" "NTRK1"
"0000036486" "NTRK1"
"0000036487" "NTRK1"
"0000036488" "NTRK1"
"0000079749" "NTRK1"
"0000079750" "NTRK1"
"0000079751" "NTRK1"
"0000079752" "NTRK1"
"0000079753" "NTRK1"
"0000079786" "NTRK1"
"0000079787" "NTRK1"
"0000081134" "NTRK1"
"0000218237" "NTRK1"
"0000218238" "NTRK1"
"0000218239" "NTRK1"
"0000218240" "NTRK1"
"0000218241" "NTRK1"
"0000218242" "NTRK1"
"0000218243" "NTRK1"
"0000218244" "NTRK1"
"0000218245" "NTRK1"
"0000218246" "NTRK1"
"0000218247" "NTRK1"
"0000218248" "NTRK1"
"0000218249" "NTRK1"
"0000218251" "NTRK1"
"0000218252" "NTRK1"
"0000218254" "NTRK1"
"0000218255" "NTRK1"
"0000218256" "NTRK1"
"0000218257" "NTRK1"
"0000218258" "NTRK1"
"0000218260" "NTRK1"
"0000218261" "NTRK1"
"0000218262" "NTRK1"
"0000218263" "NTRK1"
"0000218264" "NTRK1"
"0000218265" "NTRK1"
"0000218266" "NTRK1"
"0000218267" "NTRK1"
"0000218268" "NTRK1"
"0000218270" "NTRK1"
"0000218271" "NTRK1"
"0000218272" "NTRK1"
"0000218273" "NTRK1"
"0000218274" "NTRK1"
"0000218275" "NTRK1"
"0000218276" "NTRK1"
"0000218277" "NTRK1"
"0000218278" "NTRK1"
"0000218279" "NTRK1"
"0000218280" "NTRK1"
"0000218281" "NTRK1"
"0000218283" "NTRK1"
"0000218286" "NTRK1"
"0000218287" "NTRK1"
"0000218288" "NTRK1"
"0000218289" "NTRK1"
"0000218290" "NTRK1"
"0000218291" "NTRK1"
"0000218292" "NTRK1"
"0000218293" "NTRK1"
"0000218294" "NTRK1"
"0000218295" "NTRK1"
"0000218296" "NTRK1"
"0000218297" "NTRK1"
"0000218298" "NTRK1"
"0000218299" "NTRK1"
"0000218300" "NTRK1"
"0000218301" "NTRK1"
"0000218302" "NTRK1"
"0000218303" "NTRK1"
"0000218304" "NTRK1"
"0000218305" "NTRK1"
"0000218306" "NTRK1"
"0000218307" "NTRK1"
"0000218308" "NTRK1"
"0000218309" "NTRK1"
"0000218310" "NTRK1"
"0000218311" "NTRK1"
"0000218312" "NTRK1"
"0000218313" "NTRK1"
"0000218314" "NTRK1"
"0000218315" "NTRK1"
"0000218316" "NTRK1"
"0000218317" "NTRK1"
"0000218318" "NTRK1"
"0000218319" "NTRK1"
"0000218320" "NTRK1"
"0000218321" "NTRK1"
"0000218322" "NTRK1"
"0000218323" "NTRK1"
"0000218324" "NTRK1"
"0000218327" "NTRK1"
"0000218328" "NTRK1"
"0000218329" "NTRK1"
"0000218330" "NTRK1"
"0000218331" "NTRK1"
"0000218332" "NTRK1"
"0000218333" "NTRK1"
"0000218334" "NTRK1"
"0000218335" "NTRK1"
"0000218336" "NTRK1"
"0000218337" "NTRK1"
"0000218338" "NTRK1"
"0000218339" "NTRK1"
"0000218340" "NTRK1"
"0000218341" "NTRK1"
"0000218342" "NTRK1"
"0000218343" "NTRK1"
"0000218344" "NTRK1"
"0000218345" "NTRK1"
"0000218346" "NTRK1"
"0000218347" "NTRK1"
"0000218348" "NTRK1"
"0000218349" "NTRK1"
"0000218350" "NTRK1"
"0000218351" "NTRK1"
"0000218353" "NTRK1"
"0000218354" "NTRK1"
"0000218355" "NTRK1"
"0000218356" "NTRK1"
"0000218357" "NTRK1"
"0000218358" "NTRK1"
"0000218359" "NTRK1"
"0000218360" "NTRK1"
"0000218361" "NTRK1"
"0000218362" "NTRK1"
"0000218363" "NTRK1"
"0000218364" "NTRK1"
"0000218365" "NTRK1"
"0000218366" "NTRK1"
"0000218367" "NTRK1"
"0000219128" "NTRK1"
"0000219129" "NTRK1"
"0000219130" "NTRK1"
"0000375621" "NTRK1"
"0000375622" "NTRK1"
"0000375810" "NTRK1"
"0000381723" "NTRK1"
"0000381753" "NTRK1"
## 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 = 395
"{{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}}"
"0000000126" "0" "50" "1" "156848918" "156848918" "subst" "0.0416868" "00002" "NTRK1_000163" "g.156848918C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.156879126C>T" "" "VUS" ""
"0000000127" "0" "50" "1" "156848918" "156848918" "subst" "0.0416868" "00002" "NTRK1_000163" "g.156848918C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.156879126C>T" "" "VUS" ""
"0000000128" "3" "50" "1" "156848918" "156848918" "subst" "0.0416868" "00002" "NTRK1_000163" "g.156848918C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.156879126C>T" "" "VUS" ""
"0000063598" "1" "90" "1" "156851322" "156851322" "subst" "0" "01164" "NTRK1_000165" "g.156851322T>C" "" "" "" "" "polyphen-2: (PSIC:0,995) prob.damaging" "Germline" "" "" "0" "" "" "g.156881530T>C" "" "pathogenic" ""
"0000063599" "1" "50" "1" "156830649" "156830649" "subst" "0" "01164" "NTRK1_000176" "g.156830649A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.156860857A>G" "" "VUS" ""
"0000063600" "1" "10" "1" "156851382" "156851382" "subst" "0.00482651" "01164" "NTRK1_000166" "g.156851382G>A" "" "" "" "" "" "Germline" "" "rs35669708" "0" "" "" "g.156881590G>A" "" "benign" ""
"0000063601" "1" "10" "1" "156834269" "156834269" "subst" "0.0288964" "01164" "NTRK1_000068" "g.156834269G>T" "" "" "" "" "" "Germline" "" "rs1800878" "0" "" "" "g.156864477G>T" "" "benign" ""
"0000063602" "1" "10" "1" "156836838" "156836838" "subst" "0" "01164" "NTRK1_000170" "g.156836838T>C" "" "" "" "" "" "Germline" "" "rs2274497" "0" "" "" "g.156867046T>C" "" "benign" ""
"0000063603" "1" "10" "1" "156830779" "156830779" "subst" "0.00743438" "01164" "NTRK1_000008" "g.156830779G>A" "" "" "" "" "" "Germline" "" "rs1007211" "0" "" "" "g.156860987G>A" "" "benign" ""
"0000063604" "1" "90" "1" "156838042" "156838042" "subst" "0.00000831083" "01164" "NTRK1_000080" "g.156838042G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.156868250G>A" "" "pathogenic" ""
"0000063605" "1" "10" "1" "156837847" "156837847" "subst" "0.0377881" "01164" "NTRK1_000172" "g.156837847T>C" "" "" "" "" "" "Germline" "" "rs16837724" "0" "" "" "g.156868055T>C" "" "benign" ""
"0000063606" "1" "10" "1" "156849775" "156849775" "subst" "0.0577933" "01164" "NTRK1_000088" "g.156849775T>C" "" "" "" "" "" "Germline" "" "rs12076232" "0" "" "" "g.156879983T>C" "" "benign" ""
"0000063607" "1" "90" "1" "156834207" "156834207" "dup" "0" "01164" "NTRK1_000168" "g.156834207dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.156864415dup" "" "pathogenic" ""
"0000063608" "1" "10" "1" "156841674" "156841674" "subst" "0" "01164" "NTRK1_000173" "g.156841674G>A" "" "" "" "" "" "Germline" "" "rs1410082" "0" "" "" "g.156871882G>A" "" "benign" ""
"0000063609" "1" "10" "1" "156848910" "156848910" "del" "0.0590205" "01164" "NTRK1_000073" "g.156848910del" "" "" "" "" "" "Germline" "" "rs1799770" "0" "" "" "g.156879118del" "" "benign" ""
"0000063610" "1" "50" "1" "156848821" "156848821" "subst" "0" "01164" "NTRK1_000175" "g.156848821C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.156879029C>T" "" "VUS" ""
"0000063611" "1" "50" "1" "156843423" "156843423" "subst" "0" "01164" "NTRK1_000174" "g.156843423A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.156873631A>G" "" "VUS" ""
"0000063612" "1" "50" "1" "156830997" "156830997" "subst" "0" "01164" "NTRK1_000167" "g.156830997A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.156861205A>C" "" "VUS" ""
"0000063613" "1" "10" "1" "156836967" "156836967" "subst" "0" "01164" "NTRK1_000171" "g.156836967A>G" "" "" "" "" "" "Germline" "" "rs11264577" "0" "" "" "g.156867175A>G" "" "benign" ""
"0000128524" "0" "90" "1" "156845920" "156845920" "subst" "0.00000406095" "01728" "NTRK1_000156" "g.156845920G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.156876128G>A" "" "pathogenic" ""
"0000128525" "0" "90" "1" "156845935" "156845935" "subst" "0" "01728" "NTRK1_000157" "g.156845935G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.156876143G>A" "" "pathogenic" ""
"0000128526" "0" "30" "1" "156851297" "156851297" "subst" "0" "01728" "NTRK1_000158" "g.156851297T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.156881505T>A" "" "likely benign" ""
"0000128527" "3" "90" "1" "156849078" "156849078" "subst" "0" "01728" "NTRK1_000160" "g.156849078T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.156879286T>C" "" "pathogenic" ""
"0000128528" "0" "90" "1" "156849840" "156849840" "subst" "0" "01728" "NTRK1_000161" "g.156849840T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.156880048T>C" "" "pathogenic" ""
"0000128568" "3" "90" "1" "156851331" "156851331" "subst" "0" "01728" "NTRK1_000162" "g.156851331G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.156881539G>C" "" "pathogenic" ""
"0000128569" "0" "50" "1" "156851354" "156851354" "subst" "0.00000839053" "01728" "NTRK1_000159" "g.156851354C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.156881562C>T" "" "VUS" ""
"0000128570" "3" "90" "1" "156851354" "156851354" "subst" "0.00000839053" "01728" "NTRK1_000159" "g.156851354C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.156881562C>T" "" "pathogenic" ""
"0000130220" "3" "90" "1" "156837993" "156837993" "subst" "0.00000407817" "01758" "NTRK1_000053" "g.156837993C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.156868201C>T" "" "pathogenic" "ACMG"
"0000245439" "0" "10" "1" "156849796" "156849796" "subst" "0.00831989" "02330" "NTRK1_000066" "g.156849796A>G" "" "" "" "NTRK1(NM_002529.3):c.2052A>G (p.G684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156880004A>G" "" "benign" ""
"0000245500" "0" "10" "1" "156848910" "156848910" "del" "0.0590205" "02330" "NTRK1_000073" "g.156848910del" "" "" "" "NTRK1(NM_002529.3):c.1806-4delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879118del" "" "benign" ""
"0000245566" "0" "90" "1" "156846318" "156846318" "subst" "0" "02330" "NTRK1_000015" "g.156846318A>G" "" "" "" "NTRK1(NM_002529.3):c.1759A>G (p.M587V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156876526A>G" "" "pathogenic" ""
"0000245573" "0" "90" "1" "156843650" "156843650" "subst" "0" "02330" "NTRK1_000186" "g.156843650A>G" "" "" "" "NTRK1(NM_002529.3):c.1076A>G (p.Y359C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156873858A>G" "" "pathogenic" ""
"0000245574" "0" "90" "1" "156849157" "156849157" "subst" "0.00000424672" "02330" "NTRK1_000060" "g.156849157A>C" "" "" "" "NTRK1(NM_002529.3):c.2046+3A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879365A>C" "" "pathogenic" ""
"0000245601" "0" "50" "1" "156834172" "156834172" "subst" "0.0000284312" "02330" "NTRK1_000006" "g.156834172A>G" "" "" "" "NTRK1(NM_002529.3):c.239A>G (p.Q80R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156864380A>G" "" "VUS" ""
"0000289659" "0" "30" "1" "156821755" "156821755" "subst" "0.0000534764" "01943" "INSRR_000002" "g.156821755C>T" "" "" "" "INSRR(NM_014215.3):c.866G>A (p.R289H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156851963C>T" "" "likely benign" ""
"0000293277" "0" "90" "1" "156843651" "156843651" "subst" "0" "02330" "NTRK1_000002" "g.156843651C>A" "" "" "" "NTRK1(NM_002529.3):c.1077C>A (p.Y359*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156873859C>A" "" "pathogenic" ""
"0000293278" "0" "10" "1" "156830843" "156830843" "subst" "0.000056586" "02330" "NTRK1_000179" "g.156830843C>T" "" "" "" "NTRK1(NM_002529.3):c.117C>T (p.A39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156861051C>T" "" "benign" ""
"0000293279" "0" "90" "1" "156844362" "156844362" "subst" "0.0000040619" "02330" "NTRK1_000083" "g.156844362G>A" "" "" "" "NTRK1(NM_002529.3):c.1196-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156874570G>A" "" "pathogenic" ""
"0000293281" "0" "90" "1" "156845934" "156845934" "subst" "0" "02330" "NTRK1_000009" "g.156845934G>A" "" "" "" "NTRK1(NM_002529.3):c.1564G>A (p.G522R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156876142G>A" "" "pathogenic" ""
"0000293282" "0" "90" "1" "156846191" "156846191" "subst" "0" "02330" "NTRK1_000095" "g.156846191G>T" "" "" "" "NTRK1(NM_002529.3):c.1633-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156876399G>T" "" "pathogenic" ""
"0000293283" "0" "90" "1" "156846231" "156846231" "subst" "0" "02330" "NTRK1_000011" "g.156846231C>T" "" "" "" "NTRK1(NM_002529.3):c.1672C>T (p.Q558*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156876439C>T" "" "pathogenic" ""
"0000293284" "0" "10" "1" "156846233" "156846233" "subst" "0.220248" "02330" "NTRK1_000072" "g.156846233G>A" "" "" "" "NTRK1(NM_002529.3):c.1674G>A (p.Q558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156876441G>A" "" "benign" ""
"0000293285" "0" "30" "1" "156830742" "156830742" "subst" "0.00320506" "02330" "NTRK1_000177" "g.156830742C>T" "" "" "" "NTRK1(NM_002529.3):c.16C>T (p.R6W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156860950C>T" "" "likely benign" ""
"0000293286" "0" "90" "1" "156846274" "156846274" "subst" "0" "02330" "NTRK1_000012" "g.156846274T>G" "" "" "" "NTRK1(NM_002529.3):c.1715T>G (p.I572S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156876482T>G" "" "pathogenic" ""
"0000293287" "0" "90" "1" "156846288" "156846288" "subst" "0" "02330" "NTRK1_000061" "g.156846288G>C" "" "" "" "NTRK1(NM_002529.3):c.1729G>C (p.G577R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156876496G>C" "" "pathogenic" ""
"0000293288" "0" "90" "1" "156846363" "156846363" "subst" "0" "02330" "NTRK1_000188" "g.156846363C>T" "" "" "" "NTRK1(NM_002529.3):c.1804C>T (p.R602*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156876571C>T" "" "pathogenic" ""
"0000293289" "0" "90" "1" "156846364" "156846364" "subst" "0" "02330" "NTRK1_000017" "g.156846364G>A" "" "" "" "NTRK1(NM_002529.3):c.1805G>A (p.R602Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156876572G>A" "" "pathogenic" ""
"0000293290" "0" "50" "1" "156848916" "156848916" "subst" "0.000131168" "02330" "NTRK1_000189" "g.156848916C>G" "" "" "" "NTRK1(NM_002529.3):c.1808C>G (p.S603C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879124C>G" "" "VUS" ""
"0000293291" "0" "10" "1" "156848918" "156848918" "subst" "0.0416868" "02330" "NTRK1_000163" "g.156848918C>T" "" "" "" "NTRK1(NM_002529.3):c.1810C>T (p.H604Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879126C>T" "" "benign" ""
"0000293292" "0" "10" "1" "156848946" "156848946" "subst" "0.0417312" "02330" "NTRK1_000190" "g.156848946G>T" "" "" "" "NTRK1(NM_002529.3):c.1838G>T (p.G613V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879154G>T" "" "benign" ""
"0000293293" "0" "90" "1" "156848951" "156848951" "subst" "0" "02330" "NTRK1_000021" "g.156848951G>T" "" "" "" "NTRK1(NM_002529.3):c.1843G>T (p.E615*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879159G>T" "" "pathogenic" ""
"0000293294" "0" "90" "1" "156848957" "156848957" "subst" "0" "02330" "NTRK1_000191" "g.156848957G>T" "" "" "" "NTRK1(NM_002529.3):c.1849G>T (p.V617L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879165G>T" "" "pathogenic" ""
"0000293296" "0" "10" "1" "156848968" "156848968" "subst" "0.0102665" "02330" "NTRK1_000193" "g.156848968C>T" "" "" "" "NTRK1(NM_002529.3):c.1860C>T (p.G620=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879176C>T" "" "benign" ""
"0000293297" "0" "90" "1" "156848985" "156848985" "dup" "0" "02330" "NTRK1_000024" "g.156848985dup" "" "" "" "NTRK1(NM_002529.3):c.1877dupA (p.L627Afs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879193dup" "" "pathogenic" ""
"0000293298" "0" "10" "1" "156848995" "156848995" "subst" "0.58061" "02330" "NTRK1_000064" "g.156848995C>T" "" "" "" "NTRK1(NM_002529.3):c.1887C>T (p.A629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879203C>T" "" "benign" ""
"0000293299" "0" "30" "1" "156849016" "156849016" "subst" "0.00172419" "02330" "NTRK1_000194" "g.156849016G>A" "" "" "" "NTRK1(NM_002529.3):c.1908G>A (p.A636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879224G>A" "" "likely benign" ""
"0000293300" "0" "90" "1" "156849053" "156849053" "subst" "0.00000814797" "02330" "NTRK1_000195" "g.156849053C>T" "" "" "" "NTRK1(NM_002529.3):c.1945C>T (p.R649W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879261C>T" "" "pathogenic" ""
"0000293301" "0" "90" "1" "156849068" "156849068" "subst" "0.0000122084" "02330" "NTRK1_000026" "g.156849068C>T" "" "" "" "NTRK1(NM_002529.3):c.1960C>T (p.R654C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879276C>T" "" "pathogenic" ""
"0000293302" "0" "90" "1" "156849110" "156849110" "subst" "0" "02330" "NTRK1_000196" "g.156849110G>T" "" "" "" "NTRK1(NM_002529.3):c.2002G>T (p.D668Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879318G>T" "" "pathogenic" ""
"0000293303" "0" "10" "1" "156849775" "156849775" "subst" "0.0577933" "02330" "NTRK1_000088" "g.156849775T>C" "" "" "" "NTRK1(NM_002529.3):c.2047-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879983T>C" "" "benign" ""
"0000293304" "0" "90" "1" "156849828" "156849828" "subst" "0" "02330" "NTRK1_000065" "g.156849828C>T" "" "" "" "NTRK1(NM_002529.3):c.2084C>T (p.P695L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156880036C>T" "" "pathogenic" ""
"0000293305" "0" "30" "1" "156830948" "156830948" "subst" "0.00114428" "02330" "NTRK1_000180" "g.156830948C>T" "" "" "" "NTRK1(NM_002529.3):c.212+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156861156C>T" "" "likely benign" ""
"0000293306" "0" "90" "1" "156849884" "156849884" "subst" "0.0000121942" "02330" "NTRK1_000197" "g.156849884G>A" "" "" "" "NTRK1(NM_002529.3):c.2140G>A (p.G714S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156880092G>A" "" "pathogenic" ""
"0000293307" "0" "90" "1" "156849888" "156849888" "subst" "0" "02330" "NTRK1_000034" "g.156849888T>C" "" "" "" "NTRK1(NM_002529.3):c.2144T>C (p.V715A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156880096T>C" "" "pathogenic" ""
"0000293308" "0" "90" "1" "156851314" "156851314" "subst" "0" "02330" "NTRK1_000038" "g.156851314C>G" "" "" "" "NTRK1(NM_002529.3):c.2271C>G (p.Y757*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156881522C>G" "" "pathogenic" ""
"0000293309" "0" "90" "1" "156851324" "156851324" "subst" "0" "02330" "NTRK1_000039" "g.156851324C>T" "" "" "" "NTRK1(NM_002529.3):c.2281C>T (p.R761W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156881532C>T" "" "pathogenic" ""
"0000293310" "0" "90" "1" "156851346" "156851346" "subst" "0.0000169596" "02330" "NTRK1_000040" "g.156851346C>T" "" "" "" "NTRK1(NM_002529.3):c.2303C>T (p.P768L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156881554C>T" "" "pathogenic" ""
"0000293311" "0" "90" "1" "156851351" "156851351" "subst" "0" "02330" "NTRK1_000041" "g.156851351C>T" "" "" "" "NTRK1(NM_002529.3):c.2308C>T (p.Q770*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156881559C>T" "" "pathogenic" ""
"0000293312" "0" "90" "1" "156851371" "156851371" "dup" "0" "02330" "NTRK1_000042" "g.156851371dup" "" "" "" "NTRK1(NM_002529.3):c.2328dupT (p.V777Cfs*?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156881579dup" "" "pathogenic" ""
"0000293313" "0" "10" "1" "156851377" "156851377" "subst" "0.0000837816" "02330" "NTRK1_000198" "g.156851377C>T" "" "" "" "NTRK1(NM_002529.3):c.2334C>T (p.H778=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156881585C>T" "" "benign" ""
"0000293314" "0" "10" "1" "156851382" "156851382" "subst" "0.00482651" "02330" "NTRK1_000166" "g.156851382G>A" "" "" "" "NTRK1(NM_002529.3):c.2339G>A (p.R780Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156881590G>A" "" "benign" ""
"0000293315" "0" "90" "1" "156851382" "156851382" "subst" "0.00000418968" "02330" "NTRK1_000043" "g.156851382G>C" "" "" "" "NTRK1(NM_002529.3):c.2339G>C (p.R780P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156881590G>C" "" "pathogenic" ""
"0000293316" "0" "50" "1" "156834186" "156834186" "subst" "0.00000406237" "02330" "NTRK1_000181" "g.156834186C>A" "" "" "" "NTRK1(NM_002529.3):c.253C>A (p.R85S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156864394C>A" "" "VUS" ""
"0000293317" "0" "90" "1" "156830751" "156830751" "subst" "0" "02330" "NTRK1_000178" "g.156830751C>T" "" "" "" "NTRK1(NM_002529.3):c.25C>T (p.Q9*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156860959C>T" "" "pathogenic" ""
"0000293318" "0" "90" "1" "156834211" "156834211" "subst" "0" "02330" "NTRK1_000047" "g.156834211T>C" "" "" "" "NTRK1(NM_002529.3):c.278T>C (p.L93P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156864419T>C" "" "pathogenic" ""
"0000293319" "0" "90" "1" "156834596" "156834596" "subst" "0" "02330" "NTRK1_000085" "g.156834596G>T" "" "" "" "NTRK1(NM_002529.3):c.359+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156864804G>T" "" "pathogenic" ""
"0000293320" "0" "50" "1" "156837895" "156837895" "subst" "0" "02330" "NTRK1_000151" "g.156837895G>C" "" "" "" "NTRK1(NM_002529.3):c.429-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156868103G>C" "" "VUS" ""
"0000293321" "0" "50" "1" "156837949" "156837949" "subst" "0.000325842" "02330" "NTRK1_000098" "g.156837949G>A" "" "" "" "NTRK1(NM_002529.3):c.482G>A (p.R161H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156868157G>A" "" "VUS" ""
"0000293322" "0" "90" "1" "156837957" "156837957" "subst" "0" "02330" "NTRK1_000051" "g.156837957G>T" "" "" "" "NTRK1(NM_002529.3):c.490G>T (p.E164*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156868165G>T" "" "pathogenic" ""
"0000293323" "0" "90" "1" "156837963" "156837963" "subst" "0" "02330" "NTRK1_000094" "g.156837963G>T" "" "" "" "NTRK1(NM_002529.3):c.496G>T (p.G166*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156868171G>T" "" "pathogenic" ""
"0000293324" "0" "90" "1" "156837993" "156837993" "subst" "0.00000407817" "02330" "NTRK1_000053" "g.156837993C>T" "" "" "" "NTRK1(NM_002529.3):c.526C>T (p.Q176*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156868201C>T" "" "pathogenic" ""
"0000293325" "0" "10" "1" "156830779" "156830779" "subst" "0.00743438" "02330" "NTRK1_000008" "g.156830779G>A" "" "" "" "NTRK1(NM_001012331.1):c.53G>A (p.(Gly18Glu)), NTRK1(NM_002529.3):c.53G>A (p.G18E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156860987G>A" "" "benign" ""
"0000293326" "0" "70" "1" "156838042" "156838042" "subst" "0.00000831083" "02330" "NTRK1_000080" "g.156838042G>A" "" "" "" "NTRK1(NM_002529.3):c.574+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156868250G>A" "" "likely pathogenic" ""
"0000293327" "0" "90" "1" "156838360" "156838360" "subst" "0" "02330" "NTRK1_000183" "g.156838360T>C" "" "" "" "NTRK1(NM_002529.3):c.638T>C (p.L213P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156868568T>C" "" "pathogenic" ""
"0000293328" "0" "30" "1" "156838432" "156838432" "subst" "0.00379513" "02330" "NTRK1_000141" "g.156838432C>T" "" "" "" "NTRK1(NM_002529.3):c.710C>T (p.T237M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156868640C>T" "" "likely benign" ""
"0000293329" "0" "90" "1" "156838440" "156838440" "subst" "0" "02330" "NTRK1_000084" "g.156838440G>C" "" "" "" "NTRK1(NM_002529.3):c.717+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156868648G>C" "" "pathogenic" ""
"0000293330" "0" "90" "1" "156841548" "156841548" "subst" "0" "02330" "NTRK1_000184" "g.156841548G>A" "" "" "" "NTRK1(NM_002529.3):c.850+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156871756G>A" "" "pathogenic" ""
"0000293331" "0" "90" "1" "156843392" "156843392" "subst" "0.0000345045" "02330" "NTRK1_000067" "g.156843392T>A" "" "" "" "NTRK1(NM_002529.3):c.851-33T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156873600T>A" "" "pathogenic" ""
"0000293332" "0" "50" "1" "156843439" "156843439" "subst" "0.000901149" "02330" "NTRK1_000104" "g.156843439C>A" "" "" "" "NTRK1(NM_002529.3):c.865C>A (p.Q289K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156873647C>A" "" "VUS" ""
"0000293333" "0" "50" "1" "156811960" "156811960" "subst" "0.0000528387" "02330" "INSRR_000001" "g.156811960C>T" "" "" "" "NTRK1(NM_001007792.1):c.97C>T (p.R33W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156842168C>T" "" "VUS" ""
"0000295809" "0" "10" "1" "156785617" "156785617" "subst" "0.673681" "02330" "SH2D2A_000001" "g.156785617G>A" "" "" "" "NTRK1(NM_001007792.1):c.-5G>A, SH2D2A(NM_001161441.1):c.123+181C>T, SH2D2A(NM_001161441.2):c.123+181C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156815825G>A" "" "benign" ""
"0000296641" "0" "10" "1" "156785617" "156785617" "subst" "0.673681" "02325" "SH2D2A_000001" "g.156785617G>A" "" "" "" "NTRK1(NM_001007792.1):c.-5G>A, SH2D2A(NM_001161441.1):c.123+181C>T, SH2D2A(NM_001161441.2):c.123+181C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156815825G>A" "" "benign" ""
"0000296642" "0" "10" "1" "156846233" "156846233" "subst" "0.220248" "02325" "NTRK1_000072" "g.156846233G>A" "" "" "" "NTRK1(NM_002529.3):c.1674G>A (p.Q558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156876441G>A" "" "benign" ""
"0000296643" "0" "10" "1" "156848918" "156848918" "subst" "0.0416868" "02325" "NTRK1_000163" "g.156848918C>T" "" "" "" "NTRK1(NM_002529.3):c.1810C>T (p.H604Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879126C>T" "" "benign" ""
"0000296644" "0" "10" "1" "156848946" "156848946" "subst" "0.0417312" "02325" "NTRK1_000190" "g.156848946G>T" "" "" "" "NTRK1(NM_002529.3):c.1838G>T (p.G613V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879154G>T" "" "benign" ""
"0000296645" "0" "10" "1" "156848995" "156848995" "subst" "0.58061" "02325" "NTRK1_000064" "g.156848995C>T" "" "" "" "NTRK1(NM_002529.3):c.1887C>T (p.A629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879203C>T" "" "benign" ""
"0000298752" "0" "90" "1" "156837952" "156837952" "subst" "0" "02329" "NTRK1_000182" "g.156837952G>A" "" "" "" "NTRK1(NM_002529.3):c.485G>A (p.W162*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156868160G>A" "" "pathogenic" ""
"0000300457" "0" "30" "1" "156848918" "156848918" "subst" "0.0416868" "02326" "NTRK1_000163" "g.156848918C>T" "" "" "" "NTRK1(NM_002529.3):c.1810C>T (p.H604Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879126C>T" "" "likely benign" ""
"0000300458" "0" "30" "1" "156848946" "156848946" "subst" "0.0417312" "02326" "NTRK1_000190" "g.156848946G>T" "" "" "" "NTRK1(NM_002529.3):c.1838G>T (p.G613V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879154G>T" "" "likely benign" ""
"0000304657" "0" "10" "1" "156846287" "156846287" "subst" "0.00168209" "01943" "NTRK1_000187" "g.156846287C>T" "" "" "" "NTRK1(NM_002529.3):c.1728C>T (p.F576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156876495C>T" "" "benign" ""
"0000304658" "0" "50" "1" "156846300" "156846300" "subst" "0.000146788" "01943" "NTRK1_000127" "g.156846300G>A" "" "" "" "NTRK1(NM_002529.3):c.1741G>A (p.E581K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156876508G>A" "" "VUS" ""
"0000304659" "0" "30" "1" "156849016" "156849016" "subst" "0.00172419" "01943" "NTRK1_000194" "g.156849016G>A" "" "" "" "NTRK1(NM_002529.3):c.1908G>A (p.A636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879224G>A" "" "likely benign" ""
"0000304660" "0" "30" "1" "156843449" "156843449" "subst" "0.0000337282" "01943" "NTRK1_000185" "g.156843449C>T" "" "" "" "NTRK1(NM_002529.3):c.875C>T (p.T292M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156873657C>T" "" "likely benign" ""
"0000339492" "0" "10" "1" "156846233" "156846233" "subst" "0.220248" "02327" "NTRK1_000072" "g.156846233G>A" "" "" "" "NTRK1(NM_002529.3):c.1674G>A (p.Q558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156876441G>A" "" "benign" ""
"0000340658" "0" "10" "1" "156848995" "156848995" "subst" "0.58061" "02327" "NTRK1_000064" "g.156848995C>T" "" "" "" "NTRK1(NM_002529.3):c.1887C>T (p.A629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879203C>T" "" "benign" ""
"0000340793" "0" "10" "1" "156849796" "156849796" "subst" "0.00831989" "02327" "NTRK1_000066" "g.156849796A>G" "" "" "" "NTRK1(NM_002529.3):c.2052A>G (p.G684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156880004A>G" "" "benign" ""
"0000341116" "0" "70" "1" "156834561" "156834561" "subst" "0" "02327" "NTRK1_000199" "g.156834561C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156864769C>A" "" "likely pathogenic" ""
"0000345517" "0" "50" "1" "156849833" "156849833" "subst" "0.00000406984" "02327" "NTRK1_000203" "g.156849833G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156880041G>A" "" "VUS" ""
"0000345819" "0" "10" "1" "156830779" "156830779" "subst" "0.00743438" "02327" "NTRK1_000008" "g.156830779G>A" "" "" "" "NTRK1(NM_001012331.1):c.53G>A (p.(Gly18Glu)), NTRK1(NM_002529.3):c.53G>A (p.G18E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156860987G>A" "" "benign" ""
"0000346190" "0" "10" "1" "156848946" "156848946" "subst" "0.0417312" "02327" "NTRK1_000190" "g.156848946G>T" "" "" "" "NTRK1(NM_002529.3):c.1838G>T (p.G613V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879154G>T" "" "benign" ""
"0000346504" "0" "10" "1" "156848918" "156848918" "subst" "0.0416868" "02327" "NTRK1_000163" "g.156848918C>T" "" "" "" "NTRK1(NM_002529.3):c.1810C>T (p.H604Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156879126C>T" "" "benign" ""
"0000346789" "0" "50" "1" "156849840" "156849840" "subst" "0" "02327" "NTRK1_000161" "g.156849840T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156880048T>C" "" "VUS" ""
"0000350732" "0" "70" "1" "156834596" "156834596" "subst" "0" "02327" "NTRK1_000085" "g.156834596G>T" "" "" "" "NTRK1(NM_002529.3):c.359+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.156864804G>T" "" "likely pathogenic" ""
"0000452741" "3" "70" "1" "156843650" "156843650" "subst" "0" "00006" "NTRK1_000186" "g.156843650A>G" "" "{PMID:Houlden 2001:11310631}" "" "" "not in 160 control chromosomes" "Germline" "yes" "" "0" "" "" "g.156873858A>G" "" "pathogenic (recessive)" ""
"0000452743" "3" "10" "1" "156848918" "156848918" "subst" "0.0416868" "00006" "NTRK1_000163" "g.156848918C>T" "" "{PMID:Houlden 2001:11310631}" "" "H598Y" "" "Germline" "no" "rs6336" "0" "" "" "g.156879126C>T" "" "benign" ""
"0000452744" "3" "10" "1" "156848946" "156848946" "subst" "0.0417312" "00006" "NTRK1_000190" "g.156848946G>T" "" "{PMID:Houlden 2001:11310631}" "" "G607V" "" "Germline" "no" "rs6339" "0" "" "" "g.156879154G>T" "" "benign" ""
"0000452751" "11" "90" "1" "156851387" "156851387" "subst" "0" "00006" "NTRK1_000044" "g.156851387C>T" "" "{PMID:Wieczorek 2008:18657423}" "SatI" "C2429T (Q782X)" "not in 570 control chromosomes" "Germline" "yes" "" "0" "" "" "g.156881595C>T" "" "pathogenic" ""
"0000452752" "21" "90" "1" "156843736" "156843736" "subst" "0.00000668297" "00006" "NTRK1_000003" "g.156843736G>A" "" "{PMID:Wieczorek 2008:18657423}" "AvaI" "G1247A" "not in 570 control chromosomes" "Germline" "yes" "" "0" "" "" "g.156873944G>A" "" "VUS" ""
"0000452753" "1" "90" "1" "156844369" "156844369" "del" "0" "00052" "NTRK1_000004" "g.156844369del" "" "{PMID:Lee 2009:19618435}" "" "1202delC" "" "Germline" "yes" "" "0" "" "" "g.156874577del" "" "pathogenic" ""
"0000452754" "2" "90" "1" "156843392" "156843392" "subst" "0.0000345045" "00052" "NTRK1_000067" "g.156843392T>A" "" "{PMID:Lee 2009:19618435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.156873600T>A" "" "pathogenic" ""
"0000452755" "3" "90" "1" "156845892" "156845893" "del" "0" "00052" "NTRK1_000005" "g.156845892_156845893del" "" "{PMID:Indo 2001:11668614}" "" "1588-1589delCG" "" "Germline" "yes" "" "0" "" "" "g.156876100_156876101del" "" "pathogenic" ""
"0000452757" "3" "90" "1" "156845894" "156845901" "dup" "0" "00052" "NTRK1_000082" "g.156845894_156845901dup" "" "{PMID:Indo 2001:11668614}" "" "1596_1597insGGGACATC" "mother not a carrier" "Unknown" "yes" "" "0" "" "" "g.156876102_156876109dup" "" "pathogenic" ""
"0000452759" "1" "90" "1" "156845935" "156845935" "subst" "0" "00006" "NTRK1_000007" "g.156845935G>C" "" "{PMID:Ohto 2004:15534759}" "" "1621G>C" "" "Unknown" "yes" "" "0" "" "" "g.156876143G>C" "" "pathogenic" ""
"0000452760" "11" "90" "1" "156838360" "156838360" "subst" "0" "00052" "NTRK1_000183" "g.156838360T>C" "" "{PMID:Bonkowsky 2001:12949319}" "" "722T>C" "" "Germline" "yes" "" "0" "" "" "g.156868568T>C" "" "pathogenic" ""
"0000452761" "21" "90" "1" "156845926" "156845926" "del" "0" "00052" "NTRK1_000204" "g.156845926del" "" "{PMID:Bonkowsky 2001:12949319}" "" "" "" "Germline" "yes" "" "0" "" "" "g.156876134del" "" "pathogenic" ""
"0000452762" "3" "90" "1" "156846219" "156846219" "del" "0" "00052" "NTRK1_000059" "g.156846219del" "" "{PMID:Indo 1996:08696348}, {PMID:Miura 2000:10982191}, {OMIM191315:0001}" "" "1726delC" "" "Germline" "yes" "" "0" "" "" "g.156876427del" "" "pathogenic" ""
"0000452764" "1" "90" "1" "156846231" "156846231" "subst" "0" "00006" "NTRK1_000011" "g.156846231C>T" "" "{PMID:Huehne 2008:18077166}" "" "" "" "Germline" "yes" "" "0" "" "" "g.156876439C>T" "" "pathogenic" ""
"0000452765" "2" "90" "1" "156849894" "156849894" "subst" "0" "00006" "NTRK1_000035" "g.156849894T>G" "" "{PMID:Huehne 2008:18077166}" "" "" "" "Germline" "yes" "" "0" "" "" "g.156880102T>G" "" "pathogenic" ""
"0000452766" "3" "90" "1" "156846274" "156846274" "subst" "0" "00006" "NTRK1_000012" "g.156846274T>G" "" "{PMID:Huehne 2008:18077166}" "" "" "" "Germline" "yes" "" "0" "" "" "g.156876482T>G" "" "pathogenic" ""
"0000452768" "3" "90" "1" "156846288" "156846288" "subst" "0" "00052" "NTRK1_000061" "g.156846288G>C" "0/50" "{PMID:Indo 1996:08696348}, {PMID:Miura 2000:10982191}, {OMIM191315:0003}" "" "1795G>C" "" "Germline" "yes" "" "0" "" "" "g.156876496G>C" "" "pathogenic" ""
"0000452770" "3" "90" "1" "156846318" "156846318" "subst" "0" "00006" "NTRK1_000015" "g.156846318A>G" "" "{PMID:Yotsumoto 1999:10233776}" "NlaIII-" "1825A>G (Met581Val)" "" "Germline" "yes" "" "0" "" "" "g.156876526A>G" "" "pathogenic" ""
"0000452772" "3" "90" "1" "156846364" "156846364" "subst" "0" "00006" "NTRK1_000017" "g.156846364G>A" "" "{PMID:Rotthier 2009:19651702}" "" "1697G>A (R596Q)" "" "Germline" "yes" "" "0" "" "" "g.156876572G>A" "" "pathogenic" ""
"0000452775" "3" "90" "1" "156849884" "156849884" "subst" "0.0000121942" "00052" "NTRK1_000197" "g.156849884G>A" "" "{PMID:Mardy 1999:10330344}" "" "2206G>A (Gly708Ser)" "" "Germline" "yes" "" "0" "" "" "g.156880092G>A" "" "pathogenic" ""
"0000452777" "11" "90" "1" "156838042" "156838042" "subst" "0.00000831083" "00052" "NTRK1_000080" "g.156838042G>A" "" "{PMID:Bodzioch 2000:11139246}" "" "IVS5+1G>A" "" "Germline" "yes" "" "0" "" "" "g.156868250G>A" "" "pathogenic" ""
"0000452778" "21" "50" "1" "156848918" "156848918" "subst" "0.0416868" "00052" "NTRK1_000163" "g.156848918C>T" "" "{PMID:Bodzioch 2000:11139246}" "" "1876C>T (H598Y)" "" "Germline" "yes" "rs6336" "0" "" "" "g.156879126C>T" "" "VUS" ""
"0000452779" "21" "50" "1" "156848918" "156848918" "subst" "0.0416868" "00052" "NTRK1_000163" "g.156848918C>T" "" "{PMID:Bodzioch 2000:11139246}" "" "1876C>T (H598Y)" "" "Germline" "yes" "rs6336" "0" "" "" "g.156879126C>T" "" "VUS" ""
"0000452780" "21" "90" "1" "156848951" "156848951" "subst" "0" "00052" "NTRK1_000021" "g.156848951G>T" "" "{PMID:Bodzioch 2000:11139246}" "" "1909G>T (E609X)" "not in 200 control chromosomes" "Germline" "yes" "" "0" "" "" "g.156879159G>T" "" "pathogenic" ""
"0000452781" "21" "50" "1" "156848957" "156848957" "subst" "0" "00052" "NTRK1_000191" "g.156848957G>T" "" "{PMID:Bodzioch 2000:11139246}" "" "1915G>T (V611L)" "not in 200 control chromosomes" "Germline" "yes" "" "0" "" "" "g.156879165G>T" "" "VUS" ""
"0000452783" "3" "90" "1" "156846219" "156846219" "del" "0" "00006" "NTRK1_000059" "g.156846219del" "0/50" "{PMID:Indo 1996:08696348}, {OMIM191315:0001}" "" "1726delC" "" "Germline" "yes" "" "0" "" "" "g.156876427del" "" "pathogenic" ""
"0000452785" "3" "90" "1" "156848968" "156848969" "ins" "0" "00052" "NTRK1_000023" "g.156848968_156848969insT" "" "{PMID:Shatzky 2000:10861667}" "HaeIII-" "1926insT" "" "Germline" "yes" "" "0" "" "" "g.156879176_156879177insT" "" "pathogenic" ""
"0000452787" "3" "90" "1" "156848985" "156848985" "dup" "0" "00052" "NTRK1_000024" "g.156848985dup" "" "{PMID:Verpoorten 2005:16373086}, {PMID:Rotthier 2009:19651702}" "" "1877_1878insA" "" "Germline" "yes" "" "0" "" "" "g.156879193dup" "" "pathogenic" ""
"0000452788" "3" "90" "1" "156849053" "156849053" "subst" "0.00000814797" "00052" "NTRK1_000195" "g.156849053C>T" "" "{PMID:Mardy 1999:10330344}" "MspI-" "2011C>T (Arg643Trp)" "" "Germline" "yes" "" "0" "" "" "g.156879261C>T" "" "pathogenic" ""
"0000452790" "1" "90" "1" "156830926" "156830926" "del" "0" "00052" "NTRK1_000205" "g.156830926del" "" "{PMID:Mardy 1999:10330344}" "" "284delA" "" "Germline" "yes" "" "0" "" "" "g.156861134del" "" "pathogenic" ""
"0000452793" "3" "90" "1" "156849848" "156849848" "dup" "0" "00052" "NTRK1_000031" "g.156849848dup" "" "{PMID:Lin 2010:20647579}" "" "2086_2087insC" "" "Germline" "yes" "" "0" "" "" "g.156880056dup" "" "pathogenic" ""
"0000452794" "3" "90" "1" "156841548" "156841548" "subst" "0" "00052" "NTRK1_000184" "g.156841548G>A" "" "{PMID:Mardy 1999:10330344}" "" "IVS7+1G>A" "exon skipped in in vitro splicing and activated site c.429-41" "Germline" "yes" "" "0" "" "" "g.156871756G>A" "" "pathogenic" ""
"0000452796" "0" "10" "1" "156849793" "156849793" "subst" "0" "00052" "NTRK1_000092" "g.156849793G>C" "" "{PMID:Shalimar 2007:18162686}" "" "2113G>C (V677V)" "" "Germline" "no" "" "0" "" "" "g.156880001G>C" "" "benign" ""
"0000452797" "0" "10" "1" "156849854" "156849854" "subst" "0" "00052" "NTRK1_000093" "g.156849854T>C" "" "{PMID:Shalimar 2007:18162686}" "" "2176T>C (Phe698Leu)" "" "Germline" "no" "" "0" "" "" "g.156880062T>C" "" "benign" ""
"0000452798" "11" "90" "1" "156849914" "156849914" "subst" "0.00000813127" "00052" "NTRK1_000036" "g.156849914G>A" "" "{PMID:Shalimar 2007:18162686}" "" "2236G>A (G718S)" "" "Germline" "yes" "" "0" "" "" "g.156880122G>A" "" "pathogenic" ""
"0000452799" "21" "90" "1" "156851276" "156851276" "subst" "0" "00052" "NTRK1_000033" "g.156851276G>C" "" "{PMID:Shalimar 2007:18162686}" "" "2209G>C (V709L)" "" "Germline" "yes" "" "0" "" "" "g.156881484G>C" "" "pathogenic" ""
"0000452800" "1" "90" "1" "156838440" "156838440" "subst" "0" "00052" "NTRK1_000084" "g.156838440G>C" "" "{PMID:Indo 2001:11668614}" "" "IVS6+1G>C" "" "Germline" "yes" "" "0" "" "" "g.156868648G>C" "" "pathogenic" ""
"0000452801" "2" "90" "1" "156849888" "156849888" "subst" "0" "00052" "NTRK1_000034" "g.156849888T>C" "" "{PMID:Indo 2001:11668614}" "" "2210T>C" "" "Germline" "yes" "" "0" "" "" "g.156880096T>C" "" "pathogenic" ""
"0000452802" "3" "90" "1" "156844813" "156845993" "del" "0" "00052" "NTRK1_000089" "g.156844813_156845993del" "" "{PMID:Huehne 2008:18077166}" "" "g.7335164_7336545del" "" "Germline" "yes" "" "0" "" "" "g.156875021_156876201del" "" "pathogenic" ""
"0000452804" "3" "90" "1" "156841419" "156841419" "dup" "0" "00052" "NTRK1_000090" "g.156841419dup" "" "{PMID:Huehne 2008:18077166}" "" "722_723insC" "" "Germline" "yes" "" "0" "" "" "g.156871627dup" "" "pathogenic" ""
"0000452806" "11" "90" "1" "156849899" "156849899" "subst" "0" "00052" "NTRK1_000037" "g.156849899G>A" "" "{PMID:Lee 2009:19618435}" "" "" "not in 460 control chromosomes" "Germline" "yes" "" "0" "" "" "g.156880107G>A" "" "pathogenic" ""
"0000452807" "21" "90" "1" "156834222" "156834222" "dup" "0" "00052" "NTRK1_000048" "g.156834222dup" "" "{PMID:Lee 2009:19618435}" "" "" "not in 460 control chromosomes" "Germline" "yes" "" "0" "" "" "g.156864430dup" "" "pathogenic" ""
"0000452808" "1" "90" "1" "156851314" "156851314" "subst" "0" "00052" "NTRK1_000038" "g.156851314C>G" "" "{PMID:Indo 2001:11668614}" "" "2337C>G" "" "Germline" "yes" "" "0" "" "" "g.156881522C>G" "" "pathogenic" ""
"0000452809" "2" "90" "1" "156851324" "156851324" "subst" "0" "00052" "NTRK1_000039" "g.156851324C>T" "" "{PMID:Indo 2001:11668614}" "" "2347C>T" "" "Germline" "yes" "" "0" "" "" "g.156881532C>T" "" "pathogenic" ""
"0000452811" "3" "90" "1" "156851324" "156851324" "subst" "0" "00052" "NTRK1_000039" "g.156851324C>T" "" "{PMID:Indo 2001:11668614}" "" "2347C>T" "" "Germline" "yes" "" "0" "" "" "g.156881532C>T" "" "pathogenic" ""
"0000452813" "3" "90" "1" "156851351" "156851351" "subst" "0" "00052" "NTRK1_000041" "g.156851351C>T" "" "{PMID:Tuysuz 2008:18322713}" "" "" "" "Germline" "yes" "" "0" "" "" "g.156881559C>T" "" "pathogenic" ""
"0000452814" "3" "90" "1" "156851382" "156851382" "subst" "0.00000418968" "00052" "NTRK1_000043" "g.156851382G>C" "" "{PMID:Greco 1999:10090906}, {OMIM191315:0004}" "" "2405G>C (Arg774Pro)" "" "Germline" "yes" "" "0" "" "" "g.156881590G>C" "rs35669708" "pathogenic (recessive)" ""
"0000452816" "3" "90" "1" "156846191" "156846191" "subst" "0" "00052" "NTRK1_000095" "g.156846191G>T" "" "{PMID:Tuysuz 2008:18322713}" "" "" "" "Germline" "yes" "" "0" "" "" "g.156876399G>T" "" "pathogenic (recessive)" ""
"0000452817" "1" "90" "1" "156837895" "156837895" "subst" "0" "00052" "NTRK1_000151" "g.156837895G>C" "" "{PMID:Mardy 1999:10330344}, {OMIM191315:0006}" "MvaI-" "IVS4-1G>C" "exon skipped in in vitro splicing" "Germline" "yes" "" "0" "" "" "g.156868103G>C" "" "pathogenic" ""
"0000452818" "3" "50" "1" "156834186" "156834186" "subst" "0.00000406237" "00052" "NTRK1_000181" "g.156834186C>A" "" "{PMID:Mardy 1999:10330344}, {OMIM191315:0006}" "" "337C>A (Arg85Ser)" "" "Germline" "yes" "" "0" "" "" "g.156864394C>A" "" "VUS" ""
"0000452821" "3" "50" "1" "156848918" "156848918" "subst" "0.0416868" "00052" "NTRK1_000163" "g.156848918C>T" "" "{PMID:Mardy 1999:10330344}, {OMIM191315:0005}" "" "1876C>T (His598Tyr)" "" "Germline" "yes" "rs6336" "0" "" "" "g.156879126C>T" "" "VUS" ""
"0000452822" "3" "50" "1" "156848946" "156848946" "subst" "0.0417312" "00052" "NTRK1_000190" "g.156848946G>T" "" "{PMID:Mardy 1999:10330344}, {OMIM191315:0005}" "" "1904G>T (Gly607Val)" "" "Germline" "yes" "rs6339" "0" "" "" "g.156879154G>T" "" "VUS" ""
"0000452823" "3" "90" "1" "156830751" "156830751" "subst" "0" "00052" "NTRK1_000178" "g.156830751C>T" "" "{PMID:Mardy 1999:10330344}, {OMIM191315:0005}" "" "109C>T" "" "Germline" "yes" "" "0" "" "" "g.156860959C>T" "" "pathogenic" ""
"0000452827" "3" "90" "1" "156843392" "156843392" "subst" "0.0000345045" "00052" "NTRK1_000067" "g.156843392T>A" "" "{PMID:Lee 2009:19618435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.156873600T>A" "" "pathogenic" ""
"0000452829" "3" "90" "1" "156837963" "156837963" "subst" "0" "00052" "NTRK1_000094" "g.156837963G>T" "" "{PMID:Tuysuz 2008:18322713}" "" "" "" "Germline" "yes" "" "0" "" "" "g.156868171G>T" "" "pathogenic" ""
"0000452830" "3" "90" "1" "156834586" "156834594" "del" "0" "00052" "NTRK1_000049" "g.156834586_156834594del" "" "{PMID:Tuysuz 2008:18322713}" "" "354_359+3delGTCGCCTGT" "" "Germline" "yes" "" "0" "" "" "g.156864794_156864802del" "" "pathogenic (recessive)" ""
"0000452831" "3" "90" "1" "156837993" "156837993" "subst" "0.00000407817" "00052" "NTRK1_000053" "g.156837993C>T" "" "{PMID:Indo 2001:11668614}" "PstI-" "610C>T" "" "Germline" "yes" "" "0" "" "" "g.156868201C>T" "" "pathogenic" ""
"0000452833" "3" "90" "1" "156838010" "156838010" "del" "0" "00052" "NTRK1_000054" "g.156838010del" "" "{PMID:Verpoorten 2005:16373086}, {PMID:Rotthier 2009:19651702}" "" "543delG" "" "Germline" "yes" "" "0" "" "" "g.156868218del" "" "pathogenic" ""
"0000452834" "11" "90" "1" "156843498" "156843504" "del" "0" "00052" "NTRK1_000057" "g.156843498_156843504del" "" "{PMID:Mardy 1999:10330344}" "" "1008_1014delGCCGGCA" "" "Germline" "yes" "" "0" "" "" "g.156873706_156873712del" "" "pathogenic" ""
"0000452835" "21" "90" "1" "156838360" "156838360" "subst" "0" "00052" "NTRK1_000183" "g.156838360T>C" "" "{PMID:Mardy 1999:10330344}" "" "722T>C" "" "Germline" "yes" "" "0" "" "" "g.156868568T>C" "" "pathogenic" ""
"0000452836" "1" "30" "1" "156845154" "156845154" "subst" "0" "00006" "NTRK1_000091" "g.156845154G>A" "" "{PMID:Huehne 2008:18077166}" "" "IVS11-158G>A" "" "Germline" "no" "" "0" "" "" "g.156875362G>A" "" "likely benign" ""
"0000452838" "3" "90" "1" "156849157" "156849157" "subst" "0.00000424672" "00006" "NTRK1_000060" "g.156849157A>C" "" "{PMID:Indo 1996:08696348}, {OMIM191315:0002}" "" "RNA 1872-2112del, 1966-2112del" "" "Germline" "yes" "" "0" "" "" "g.156879365A>C" "" "pathogenic" ""
"0000452842" "3" "90" "1" "156848968" "156848969" "ins" "0" "00052" "NTRK1_000023" "g.156848968_156848969insT" "" "{PMID:Shatzky 2000:10861667}" "HaeIII-" "1926insT" "" "Germline" "yes" "" "0" "" "" "g.156879176_156879177insT" "" "pathogenic" ""
"0000452844" "0" "10" "1" "156848995" "156848995" "subst" "0.58061" "00052" "NTRK1_000064" "g.156848995C>T" "" "{PMID:Shatzky 2000:10861667}" "HaeIII-" "C1953T (Ala623Ala)" "" "Germline" "no" "rs6337" "0" "" "" "g.156879203C>T" "" "benign" ""
"0000452845" "0" "10" "1" "156849036" "156849036" "subst" "0" "00052" "NTRK1_000019" "g.156849036G>T" "" "{PMID:Shatzky 2000:10861667}" "" "G1904T" "found in healthy homozygotes" "Germline" "no" "rs6339" "0" "" "" "g.156879244G>T" "" "benign" ""
"0000452846" "3" "90" "1" "156849828" "156849828" "subst" "0" "00052" "NTRK1_000065" "g.156849828C>T" "" "{PMID:Shatzky 2000:10861667}" "AciI-" "C2150T (P689L)" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.156880036C>T" "" "pathogenic" ""
"0000452848" "0" "10" "1" "156849796" "156849796" "subst" "0.00831989" "00052" "NTRK1_000066" "g.156849796A>G" "" "{PMID:Shatzky 2000:10861667}" "" "A2118G" "" "Germline" "" "" "0" "" "" "g.156880004A>G" "" "benign" ""
"0000452849" "3" "90" "1" "156846219" "156846219" "del" "0" "00006" "NTRK1_000059" "g.156846219del" "" "{PMID:Miura 2000:10982191}" "" "1726delC" "" "Germline" "yes" "" "0" "" "" "g.156876427del" "" "pathogenic" ""
"0000452850" "11" "90" "1" "156846363" "156846363" "subst" "0" "00006" "NTRK1_000188" "g.156846363C>T" "" "{PMID:Miura 2000:10982191}" "" "1870C>T" "not in 64 control chromosomes" "Germline" "yes" "" "0" "" "" "g.156876571C>T" "" "pathogenic" ""
"0000452851" "21" "90" "1" "156843651" "156843651" "subst" "0" "00006" "NTRK1_000002" "g.156843651C>A" "" "{PMID:Miura 2000:10982191}" "" "1161C>A" "not in 64 control chromosomes; in vitro exon trap shows r.850_851ins851-137_851-1{851-33t>a}" "Germline" "yes" "" "0" "" "" "g.156873859C>A" "" "pathogenic" ""
"0000452852" "3" "90" "1" "156846219" "156846219" "del" "0" "00006" "NTRK1_000059" "g.156846219del" "" "{PMID:Miura 2000:10982191}" "" "1726delC" "" "Germline" "yes" "" "0" "" "" "g.156876427del" "" "pathogenic" ""
"0000452853" "3" "90" "1" "156846219" "156846219" "del" "0" "00006" "NTRK1_000059" "g.156846219del" "" "{PMID:Miura 2000:10982191}" "" "1726delC" "" "Germline" "yes" "" "0" "" "" "g.156876427del" "" "pathogenic" ""
"0000452854" "1" "90" "1" "156849128" "156849128" "subst" "0.00000413842" "00006" "NTRK1_000209" "g.156849128G>T" "" "{PMID:Miura 2000:10982191}" "" "2086G>T" "not in 64 control chromosomes" "Germline" "yes" "" "0" "" "" "g.156879336G>T" "" "pathogenic" ""
"0000452855" "2" "90" "1" "156837957" "156837957" "subst" "0" "00006" "NTRK1_000051" "g.156837957G>T" "" "{PMID:Miura 2000:10982191}" "" "574G>T" "not in 64 control chromosomes" "Germline" "yes" "" "0" "" "" "g.156868165G>T" "" "pathogenic" ""
"0000452856" "11" "90" "1" "156843392" "156843392" "subst" "0.0000345045" "00006" "NTRK1_000067" "g.156843392T>A" "" "{PMID:Miura 2000:10982191}, {OMIM191315:0007}" "" "935-33T>A" "not in 64 control chromosomes; in vitro exon trap shows r.850_851ins851-137_851-1{851-33t>a}" "Germline" "yes" "" "0" "" "" "g.156873600T>A" "" "pathogenic" ""
"0000452857" "21" "90" "1" "156846219" "156846219" "del" "0" "00006" "NTRK1_000059" "g.156846219del" "" "{PMID:Miura 2000:10982191}" "" "1726delC" "" "Germline" "yes" "" "0" "" "" "g.156876427del" "" "pathogenic" ""
"0000452858" "3" "90" "1" "156846219" "156846219" "del" "0" "00006" "NTRK1_000059" "g.156846219del" "" "{PMID:Miura 2000:10982191}" "" "1726delC" "" "Germline" "yes" "" "0" "" "" "g.156876427del" "" "pathogenic" ""
"0000452859" "11" "90" "1" "156846219" "156846219" "del" "0" "00052" "NTRK1_000059" "g.156846219del" "" "{PMID:Miura 2000:10982191}" "" "1726delC" "" "Germline" "yes" "" "0" "" "" "g.156876427del" "" "pathogenic" ""
"0000452860" "21" "90" "1" "156846313" "156846313" "del" "0" "00052" "NTRK1_000208" "g.156846313del" "" "{PMID:Miura 2000:10982191}" "" "1820delT" "not in 64 control chromosomes" "Germline" "yes" "" "0" "" "" "g.156876521del" "" "pathogenic" ""
"0000452861" "3" "90" "1" "156846219" "156846219" "del" "0" "00006" "NTRK1_000059" "g.156846219del" "" "{PMID:Miura 2000:10982191}" "" "1726delC" "" "Germline" "yes" "" "0" "" "" "g.156876427del" "" "pathogenic" ""
"0000452862" "11" "90" "1" "156849128" "156849128" "subst" "0.00000413842" "00052" "NTRK1_000209" "g.156849128G>T" "" "{PMID:Miura 2000:10982191}" "" "2086G>T" "not in 64 control chromosomes" "Germline" "yes" "" "0" "" "" "g.156879336G>T" "" "pathogenic" ""
"0000452863" "21" "90" "1" "156851371" "156851371" "dup" "0" "00052" "NTRK1_000042" "g.156851371dup" "" "{PMID:Miura 2000:10982191}" "" "2393_2394insT" "not in 64 control chromosomes" "Germline" "yes" "" "0" "" "" "g.156881579dup" "" "pathogenic" ""
"0000452864" "11" "90" "1" "156836733" "156836734" "del" "0" "00006" "NTRK1_000206" "g.156836733_156836734del" "" "{PMID:Miura 2000:10982191}" "" "475-476delTC" "not in 64 control chromosomes" "Germline" "yes" "" "0" "" "" "g.156866941_156866942del" "" "pathogenic" ""
"0000452865" "21" "90" "1" "156843392" "156843392" "subst" "0.0000345045" "00006" "NTRK1_000067" "g.156843392T>A" "" "{PMID:Miura 2000:10982191}, {OMIM191315:0007}" "" "935-33T>A" "not in 64 control chromosomes; in vitro exon trap shows r.850_851ins851-137_851-1{851-33t>a}" "Germline" "yes" "" "0" "" "" "g.156873600T>A" "" "pathogenic" ""
"0000452866" "1" "90" "1" "156846219" "156846219" "del" "0" "00006" "NTRK1_000059" "g.156846219del" "" "{PMID:Miura 2000:10982191}" "" "1726delC" "" "Germline" "yes" "" "0" "" "" "g.156876427del" "" "pathogenic" ""
"0000452867" "2" "90" "1" "156846363" "156846363" "subst" "0" "00006" "NTRK1_000188" "g.156846363C>T" "" "{PMID:Miura 2000:10982191}" "" "1870C>T" "not in 64 control chromosomes" "Germline" "yes" "" "0" "" "" "g.156876571C>T" "" "pathogenic" ""
"0000452868" "11" "90" "1" "156849068" "156849068" "subst" "0.0000122084" "00006" "NTRK1_000026" "g.156849068C>T" "" "{PMID:Miura 2000:10982191}" "" "2026C>T" "not in 64 control chromosomes" "Germline" "yes" "" "0" "" "" "g.156879276C>T" "" "pathogenic" ""
"0000452869" "21" "90" "1" "156849128" "156849128" "subst" "0.00000413842" "00006" "NTRK1_000209" "g.156849128G>T" "" "{PMID:Miura 2000:10982191}" "" "2086G>T" "not in 64 control chromosomes" "Germline" "yes" "" "0" "" "" "g.156879336G>T" "" "pathogenic" ""
"0000452870" "11" "90" "1" "156849068" "156849068" "subst" "0.0000122084" "00006" "NTRK1_000026" "g.156849068C>T" "" "{PMID:Miura 2000:10982191}" "" "2026C>T" "not in 64 control chromosomes" "Germline" "yes" "" "0" "" "" "g.156879276C>T" "" "pathogenic" ""
"0000452871" "21" "90" "1" "156846219" "156846219" "del" "0" "00006" "NTRK1_000059" "g.156846219del" "" "{PMID:Miura 2000:10982191}" "" "1726delC" "" "Germline" "yes" "" "0" "" "" "g.156876427del" "" "pathogenic" ""
"0000452872" "11" "90" "1" "156834211" "156834211" "subst" "0" "00006" "NTRK1_000047" "g.156834211T>C" "" "{PMID:Miura 2000:10982191}" "" "362T>C" "not in 64 control chromosomes" "Germline" "yes" "" "0" "" "" "g.156864419T>C" "" "pathogenic" ""
"0000452873" "21" "90" "1" "156846219" "156846219" "del" "0" "00006" "NTRK1_000059" "g.156846219del" "" "{PMID:Miura 2000:10982191}" "" "1726delC" "" "Germline" "yes" "" "0" "" "" "g.156876427del" "" "pathogenic" ""
"0000452874" "11" "90" "1" "156843392" "156843392" "subst" "0.0000345045" "00006" "NTRK1_000067" "g.156843392T>A" "" "{PMID:Miura 2000:10982191}, {OMIM191315:0007}" "" "935-33T>A" "not in 64 control chromosomes; in vitro exon trap shows r.850_851ins851-137_851-1{851-33t>a}" "Germline" "yes" "" "0" "" "" "g.156873600T>A" "" "pathogenic" ""
"0000452875" "21" "90" "1" "156849128" "156849128" "subst" "0.00000413842" "00006" "NTRK1_000209" "g.156849128G>T" "" "{PMID:Miura 2000:10982191}" "" "2086G>T" "not in 64 control chromosomes" "Germline" "yes" "" "0" "" "" "g.156879336G>T" "" "pathogenic" ""
"0000452876" "11" "90" "1" "156846219" "156846219" "del" "0" "00006" "NTRK1_000059" "g.156846219del" "" "{PMID:Miura 2000:10982191}" "" "1726delC" "" "Germline" "yes" "" "0" "" "" "g.156876427del" "" "pathogenic" ""
"0000452877" "21" "90" "1" "156843392" "156843392" "subst" "0.0000345045" "00006" "NTRK1_000067" "g.156843392T>A" "" "{PMID:Miura 2000:10982191}, {OMIM191315:0007}" "" "935-33T>A" "not in 64 control chromosomes; in vitro exon trap shows r.850_851ins851-137_851-1{851-33t>a}" "Germline" "yes" "" "0" "" "" "g.156873600T>A" "" "pathogenic" ""
"0000452878" "3" "90" "1" "156846219" "156846219" "del" "0" "00006" "NTRK1_000059" "g.156846219del" "" "{PMID:Miura 2000:10982191}" "" "1726delC" "" "Germline" "yes" "" "0" "" "" "g.156876427del" "" "pathogenic" ""
"0000452879" "11" "90" "1" "156846219" "156846219" "del" "0" "00006" "NTRK1_000059" "g.156846219del" "" "{PMID:Miura 2000:10982191}" "" "1726delC" "" "Germline" "yes" "" "0" "" "" "g.156876427del" "" "pathogenic" ""
"0000452880" "21" "90" "1" "156845934" "156845934" "subst" "0" "00006" "NTRK1_000009" "g.156845934G>A" "" "{PMID:Miura 2000:10982191}" "" "1630G>A" "not in 64 control chromosomes" "Germline" "yes" "" "0" "" "" "g.156876142G>A" "" "pathogenic" ""
"0000452881" "3" "90" "1" "156846219" "156846219" "del" "0" "00006" "NTRK1_000059" "g.156846219del" "" "{PMID:Miura 2000:10982191}" "" "1726delC" "" "Germline" "yes" "" "0" "" "" "g.156876427del" "" "pathogenic" ""
"0000452882" "11" "90" "1" "156846219" "156846219" "del" "0" "00006" "NTRK1_000059" "g.156846219del" "" "{PMID:Miura 2000:10982191}" "" "1726delC" "" "Germline" "yes" "" "0" "" "" "g.156876427del" "" "pathogenic" ""
"0000452883" "21" "90" "1" "156843392" "156843392" "subst" "0.0000345045" "00006" "NTRK1_000067" "g.156843392T>A" "" "{PMID:Miura 2000:10982191}, {OMIM191315:0007}" "" "935-33T>A" "not in 64 control chromosomes; in vitro exon trap shows r.850_851ins851-137_851-1{851-33t>a}" "Germline" "yes" "" "0" "" "" "g.156873600T>A" "" "pathogenic" ""
"0000452884" "1" "10" "1" "156834269" "156834269" "subst" "0.0288964" "00006" "NTRK1_000068" "g.156834269G>T" "5/106 chromosomes" "{PMID:Miura 2000:10982191}" "" "IVS2+49G/T" "" "Germline" "no" "rs1800878" "0" "" "" "g.156864477G>T" "" "benign" ""
"0000452885" "1" "10" "1" "156834304" "156834304" "subst" "0" "00006" "NTRK1_000069" "g.156834304G>A" "2/106 chromosomes" "{PMID:Miura 2000:10982191}" "" "IVS2+84G/A" "" "Germline" "no" "" "0" "" "" "g.156864512G>A" "" "benign" ""
"0000452886" "1" "10" "1" "156838141" "156838141" "subst" "0" "00006" "NTRK1_000070" "g.156838141T>C" "97/106 chromosomes" "{PMID:Miura 2000:10982191}" "" "IVS5+100C/T" "" "Germline" "no" "rs1800879" "0" "" "" "g.156868349T>C" "" "benign" ""
"0000452887" "1" "10" "1" "156846120" "156846120" "subst" "0" "00006" "NTRK1_000071" "g.156846120C>T" "55/106 chromosomes" "{PMID:Miura 2000:10982191}" "" "IVS13+118T?C" "" "Germline" "no" "rs1800880" "0" "" "" "g.156876328C>T" "" "benign" ""
"0000452888" "1" "10" "1" "156846233" "156846233" "subst" "0.220248" "00006" "NTRK1_000072" "g.156846233G>A" "42/106 chromosomes" "{PMID:Miura 2000:10982191}" "" "1740G/A" "" "Germline" "no" "rs6334" "0" "" "" "g.156876441G>A" "" "benign" ""
"0000452889" "1" "10" "1" "156848910" "156848910" "del" "0.0590205" "00006" "NTRK1_000073" "g.156848910del" "5/106 chromosomes" "{PMID:Miura 2000:10982191}" "" "IVS14-4A/delA" "" "Germline" "no" "rs1799770" "0" "" "" "g.156879118del" "" "benign" ""
"0000452890" "1" "10" "1" "156848995" "156848995" "subst" "0.58061" "00006" "NTRK1_000064" "g.156848995C>T" "4/106 chromosomes" "{PMID:Miura 2000:10982191}" "" "1953C/T" "" "Germline" "no" "rs6337" "0" "" "" "g.156879203C>T" "" "benign" ""
"0000452891" "1" "10" "1" "156845523" "156845528" "del" "0" "00006" "NTRK1_000074" "g.156845523_156845528del" "38/106 chromosomes" "{PMID:Miura 2000:10982191}" "" "129 bp" "D1S506\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "no" "" "0" "" "" "" "" "benign" ""
"0000452892" "1" "10" "1" "156845525" "156845528" "del" "0" "00006" "NTRK1_000075" "g.156845525_156845528del" "9/106 chromosomes" "{PMID:Miura 2000:10982191}" "" "131 bp" "D1S506\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "no" "" "0" "" "" "" "" "benign" ""
"0000452893" "1" "10" "1" "156845527" "156845528" "del" "0" "00006" "NTRK1_000076" "g.156845527_156845528del" "3/106 chromosomes" "{PMID:Miura 2000:10982191}" "" "133 bp" "D1S506\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "no" "" "0" "" "" "" "" "benign" ""
"0000452894" "1" "10" "1" "156845493" "156845528" "" "0" "00006" "NTRK1_000077" "g.156845493_156845528=" "4/106 chromosomes" "{PMID:Miura 2000:10982191}" "" "135 bp / =" "D1S506\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "no" "" "0" "" "" "" "" "benign" ""
"0000452895" "1" "10" "1" "156845527" "156845528" "dup" "0" "00006" "NTRK1_000078" "g.156845527_156845528dup" "40/106 chromosomes" "{PMID:Miura 2000:10982191}" "" "137 bp" "D1S506\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "no" "" "0" "" "" "" "" "benign" ""
"0000452896" "1" "10" "1" "156845525" "156845528" "dup" "0" "00006" "NTRK1_000079" "g.156845525_156845528dup" "12/106 chromosomes" "{PMID:Miura 2000:10982191}" "" "139 bp" "D1S506\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "no" "" "0" "" "" "" "" "benign" ""
"0000452902" "0" "10" "1" "156848918" "156848918" "subst" "0.0416868" "00006" "NTRK1_000163" "g.156848918C>T" "12/200 chromosomes" "{PMID:Bodzioch 2000:11139246}" "" "1876C>T" "" "Germline" "no" "rs6336" "0" "" "" "g.156879126C>T" "" "benign" ""
"0000452903" "0" "10" "1" "156849036" "156849036" "subst" "0" "00006" "NTRK1_000019" "g.156849036G>T" "12/200 chromosomes" "{PMID:Bodzioch 2000:11139246}" "" "1904G>T" "" "Germline" "no" "rs6339" "0" "" "" "g.156879244G>T" "" "benign" ""
"0000452904" "0" "50" "1" "156848949" "156848949" "subst" "0" "00006" "NTRK1_000020" "g.156848949G>T" "1/200 chromosomes" "{PMID:Bodzioch 2000:11139246}" "" "1904G>T (G607V)" "" "Germline" "no" "" "0" "" "" "g.156879157G>T" "" "VUS" ""
"0000452905" "1" "10" "1" "156848918" "156848918" "subst" "0.0416868" "00006" "NTRK1_000163" "g.156848918C>T" "18/220 chromosomes" "{PMID:Houlden 2001:11310631}" "" "H598Y" "including 1 homozygote" "Germline" "no" "rs6336" "0" "" "" "g.156879126C>T" "" "benign" ""
"0000452906" "1" "10" "1" "156848946" "156848946" "subst" "0.0417312" "00006" "NTRK1_000190" "g.156848946G>T" "18/220 chromosomes" "{PMID:Houlden 2001:11310631}" "" "G607V" "including 1 homozygoe" "Germline" "no" "rs6339" "0" "" "" "g.156879154G>T" "" "benign" ""
"0000452907" "0" "10" "1" "156846233" "156846233" "subst" "0.220248" "00006" "NTRK1_000072" "g.156846233G>A" "" "{PMID:Houlden 2001:11310631}" "" "1656A>G" "" "Germline" "no" "" "0" "" "" "g.156876441G>A" "" "benign" ""
"0000452908" "0" "10" "1" "156848995" "156848995" "subst" "0.58061" "00006" "NTRK1_000064" "g.156848995C>T" "" "{PMID:Houlden 2001:11310631}" "" "1869C>T" "" "Germline" "no" "rs6337" "0" "" "" "g.156879203C>T" "" "benign" ""
"0000452909" "3" "90" "1" "156837993" "156837993" "subst" "0.00000407817" "00052" "NTRK1_000053" "g.156837993C>T" "" "{PMID:Indo 2001:11668614}" "PstI-" "610C>T" "" "Germline" "yes" "" "0" "" "" "g.156868201C>T" "" "pathogenic" ""
"0000452911" "3" "90" "1" "156836733" "156836734" "del" "0" "00052" "NTRK1_000206" "g.156836733_156836734del" "" "{PMID:Indo 2001:11668614}" "" "475-476delTC" "" "Germline" "yes" "" "0" "" "" "g.156866941_156866942del" "" "pathogenic" ""
"0000452913" "3" "90" "1" "156844362" "156844362" "subst" "0.0000040619" "00052" "NTRK1_000083" "g.156844362G>A" "" "{PMID:Indo 2001:11668614}" "" "IVS9-1G>A" "" "Germline" "yes" "" "0" "" "" "g.156874570G>A" "" "pathogenic" ""
"0000452915" "3" "90" "1" "156834596" "156834596" "subst" "0" "00052" "NTRK1_000085" "g.156834596G>T" "" "{PMID:Verpoorten 2005:16373086}, {PMID:Rotthier 2009:19651702}" "" "" "" "Germline" "yes" "" "0" "" "" "g.156864804G>T" "" "pathogenic" ""
"0000452916" "3" "90" "1" "156851324" "156851324" "subst" "0" "00052" "NTRK1_000039" "g.156851324C>T" "" "{PMID:Verpoorten 2005:16373086}, {PMID:Rotthier 2009:19651702}" "" "" "" "Germline" "yes" "" "0" "" "" "g.156881532C>T" "" "pathogenic" ""
"0000452917" "0" "10" "1" "156830779" "156830779" "subst" "0.00743438" "00006" "NTRK1_000008" "g.156830779G>A" "" "{PMID:Verpoorten 2005:16373086}" "" "" "" "Germline" "no" "rs1007211" "0" "" "" "g.156860987G>A" "" "benign" ""
"0000452918" "0" "10" "1" "156834269" "156834269" "subst" "0.0288964" "00006" "NTRK1_000068" "g.156834269G>T" "" "{PMID:Verpoorten 2005:16373086}" "" "" "" "Germline" "no" "rs1800878" "0" "" "" "g.156864477G>T" "" "benign" ""
"0000452919" "0" "10" "1" "156838141" "156838141" "subst" "0" "00006" "NTRK1_000070" "g.156838141T>C" "" "{PMID:Verpoorten 2005:16373086}" "" "" "" "Germline" "no" "rs1800879" "0" "" "" "g.156868349T>C" "" "benign" ""
"0000452920" "0" "10" "1" "156846120" "156846120" "subst" "0" "00006" "NTRK1_000071" "g.156846120C>T" "" "{PMID:Verpoorten 2005:16373086}" "" "" "" "Germline" "no" "rs1800880" "0" "" "" "g.156876328C>T" "" "benign" ""
"0000452921" "0" "10" "1" "156846233" "156846233" "subst" "0.220248" "00006" "NTRK1_000072" "g.156846233G>A" "" "{PMID:Verpoorten 2005:16373086}" "" "1674G>A" "" "Germline" "no" "rs6334" "0" "" "" "g.156876441G>A" "" "benign" ""
"0000452922" "0" "10" "1" "156848910" "156848910" "del" "0.0590205" "00006" "NTRK1_000207" "g.156848910del" "" "{PMID:Verpoorten 2005:16373086}" "" "1806-4delA" "" "Germline" "no" "rs1799770" "0" "" "" "g.156879118del" "" "benign" ""
"0000452923" "0" "10" "1" "156848918" "156848918" "subst" "0.0416868" "00006" "NTRK1_000163" "g.156848918C>T" "" "{PMID:Verpoorten 2005:16373086}" "" "" "" "Germline" "no" "rs6336" "0" "" "" "g.156879126C>T" "" "benign" ""
"0000452924" "0" "10" "1" "156848946" "156848946" "subst" "0.0417312" "00006" "NTRK1_000190" "g.156848946G>T" "" "{PMID:Verpoorten 2005:16373086}" "" "" "" "Germline" "no" "rs6339" "0" "" "" "g.156879154G>T" "" "benign" ""
"0000452925" "0" "10" "1" "156848995" "156848995" "subst" "0.58061" "00006" "NTRK1_000064" "g.156848995C>T" "" "{PMID:Verpoorten 2005:16373086}" "" "" "" "Germline" "no" "rs6337" "0" "" "" "g.156879203C>T" "" "benign" ""
"0000452926" "0" "10" "1" "156834364" "156834364" "subst" "0" "00006" "NTRK1_000086" "g.156834364G>A" "" "{PMID:Verpoorten 2005:16373086}" "" "" "" "Germline" "no" "" "0" "" "" "g.156864572G>A" "" "benign" ""
"0000452927" "0" "10" "1" "156846076" "156846076" "subst" "0" "00006" "NTRK1_000087" "g.156846076G>C" "" "{PMID:Verpoorten 2005:16373086}" "" "" "" "Germline" "no" "" "0" "" "" "g.156876284G>C" "" "benign" ""
"0000452928" "0" "10" "1" "156849775" "156849775" "subst" "0.0577933" "00006" "NTRK1_000088" "g.156849775T>C" "" "{PMID:Verpoorten 2005:16373086}" "" "" "linked with c.1788-4delA" "Germline" "no" "" "0" "" "" "g.156879983T>C" "" "benign" ""
"0000452929" "3" "90" "1" "156846191" "156846191" "subst" "0" "00052" "NTRK1_000095" "g.156846191G>T" "" "{PMID:Tuysuz 2008:18322713}" "" "" "" "Germline" "yes" "" "0" "" "" "g.156876399G>T" "" "pathogenic (recessive)" ""
"0000452930" "3" "90" "1" "156846191" "156846191" "subst" "0" "00052" "NTRK1_000095" "g.156846191G>T" "" "{PMID:Tuysuz 2008:18322713}" "" "" "" "Germline" "yes" "" "0" "" "" "g.156876399G>T" "" "pathogenic (recessive)" ""
"0000452932" "1" "90" "1" "156849157" "156849157" "subst" "0.00000424672" "00006" "NTRK1_000060" "g.156849157A>C" "" "{PMID:Rotthier 2009:19651702}" "" "" "" "Germline" "yes" "" "0" "" "" "g.156879365A>C" "" "pathogenic" ""
"0000452934" "3" "90" "1" "156834586" "156834594" "del" "0" "00006" "NTRK1_000049" "g.156834586_156834594del" "" "{PMID:Rotthier 2009:19651702}" "" "354_359+3delTCGCCTGAA" "description delTCGCCTGAA not corect" "Germline" "yes" "" "0" "" "" "g.156864794_156864802del" "" "pathogenic" ""
"0000452936" "0" "10" "1" "156834269" "156834269" "subst" "0.0288964" "00006" "NTRK1_000068" "g.156834269G>T" "" "{PMID:Lipska 2009:20003389}" "" "" "" "Germline" "no" "rs1800878" "0" "" "" "g.156864477G>T" "" "benign" ""
"0000452937" "0" "10" "1" "156836782" "156836782" "subst" "0.00255423" "00006" "NTRK1_000096" "g.156836782C>A" "" "{PMID:Lipska 2009:20003389}" "" "" "" "Germline" "no" "" "0" "" "" "g.156866990C>A" "" "benign" ""
"0000452938" "0" "10" "1" "156836817" "156836817" "subst" "0.00834296" "00006" "NTRK1_000097" "g.156836817C>T" "" "{PMID:Lipska 2009:20003389}" "" "" "" "Germline" "no" "" "0" "" "" "g.156867025C>T" "" "benign" ""
"0000452939" "0" "10" "1" "156837949" "156837949" "subst" "0.000325842" "00052" "NTRK1_000098" "g.156837949G>A" "" "{PMID:Lipska 2009:20003389}" "" "" "" "Germline" "no" "rs150271893" "0" "" "" "g.156868157G>A" "" "benign" ""
"0000452940" "0" "10" "1" "156837972" "156837972" "subst" "0.000822301" "00052" "NTRK1_000099" "g.156837972G>A" "" "{PMID:Lipska 2009:20003389}" "" "" "" "Germline" "no" "" "0" "" "" "g.156868180G>A" "" "benign" ""
"0000452941" "0" "10" "1" "156838470" "156838470" "subst" "0" "00006" "NTRK1_000100" "g.156838470A>G" "" "{PMID:Lipska 2009:20003389}" "" "" "" "Germline" "no" "" "0" "" "" "g.156868678A>G" "" "benign" ""
"0000452942" "0" "10" "1" "156844828" "156844828" "subst" "0.000325714" "00006" "NTRK1_000101" "g.156844828G>A" "" "{PMID:Lipska 2009:20003389}" "" "" "" "Germline" "no" "" "0" "" "" "g.156875036G>A" "" "benign" ""
"0000452943" "0" "10" "1" "156846344" "156846344" "subst" "0" "00052" "NTRK1_000102" "g.156846344G>A" "" "{PMID:Lipska 2009:20003389}" "" "" "" "Germline" "no" "" "0" "" "" "g.156876552G>A" "" "benign" ""
"0000452944" "0" "10" "1" "156848966" "156848967" "del" "0" "00052" "NTRK1_000103" "g.156848966_156848967delinsTC" "" "{PMID:Lipska 2009:20003389}" "" "" "" "Germline" "no" "" "0" "" "" "g.156879174_156879175delinsTC" "" "benign" ""
"0000452945" "0" "10" "1" "156846233" "156846233" "subst" "0.220248" "00006" "NTRK1_000072" "g.156846233G>A" "" "{PMID:Lipska 2009:20003389}" "" "1674G>A" "" "Germline" "no" "rs6334" "0" "" "" "g.156876441G>A" "" "benign" ""
"0000452946" "0" "70" "1" "156848918" "156848918" "subst" "0.0416868" "00006" "NTRK1_000163" "g.156848918C>T" "" "{PMID:Lipska 2009:20003389}" "" "1810C>T" "" "Germline" "no" "rs6336" "0" "" "" "g.156879126C>T" "" "likely pathogenic" ""
"0000452947" "0" "10" "1" "156848995" "156848995" "subst" "0.58061" "00006" "NTRK1_000064" "g.156848995C>T" "" "{PMID:Lipska 2009:20003389}" "" "1887C>T" "" "Germline" "no" "rs6337" "0" "" "" "g.156879203C>T" "" "benign" ""
"0000452948" "1" "90" "1" "156843392" "156843392" "subst" "0.0000345045" "00052" "NTRK1_000067" "g.156843392T>A" "" "{PMID:Lee 2009:19618435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.156873600T>A" "" "pathogenic" ""
"0000452950" "0" "50" "1" "156834172" "156834172" "subst" "0.0000284312" "00006" "NTRK1_000006" "g.156834172A>G" "" "" "" "" "" "Germline" "" "rs55891455" "0" "" "" "g.156864380A>G" "" "VUS" ""
"0000452952" "0" "50" "1" "156834169" "156834169" "subst" "0.0000934177" "00006" "NTRK1_000013" "g.156834169T>A" "" "" "" "" "" "Germline" "" "rs139140006" "0" "" "" "g.156864377T>A" "" "VUS" ""
"0000452953" "0" "50" "1" "156834187" "156834187" "subst" "0.000613472" "00006" "NTRK1_000029" "g.156834187G>A" "" "" "" "" "" "Germline" "" "rs79678945" "0" "" "" "g.156864395G>A" "" "VUS" ""
"0000452955" "0" "50" "1" "156834198" "156834198" "subst" "0.00000812684" "00006" "NTRK1_000052" "g.156834198G>A" "" "" "" "" "" "Germline" "" "rs2274496" "0" "" "" "g.156864406G>A" "" "VUS" ""
"0000452956" "0" "50" "1" "156834204" "156834204" "subst" "0.00000812968" "00006" "NTRK1_000056" "g.156834204G>C" "" "" "" "" "" "Germline" "" "rs149646444" "0" "" "" "g.156864412G>C" "" "VUS" ""
"0000452957" "0" "50" "1" "156834558" "156834558" "subst" "0.00010166" "00006" "NTRK1_000058" "g.156834558A>G" "" "" "" "" "" "Germline" "" "rs141592864" "0" "" "" "g.156864766A>G" "" "VUS" ""
"0000452958" "0" "50" "1" "156843439" "156843439" "subst" "0.000901149" "00006" "NTRK1_000104" "g.156843439C>A" "" "" "" "" "" "Germline" "" "rs137979116" "0" "" "" "g.156873647C>A" "" "VUS" ""
"0000452959" "0" "50" "1" "156843514" "156843514" "subst" "0.00026824" "00006" "NTRK1_000105" "g.156843514C>T" "" "" "" "" "" "Germline" "" "rs137994522" "0" "" "" "g.156873722C>T" "" "VUS" ""
"0000452960" "0" "50" "1" "156846302" "156846302" "subst" "0" "00006" "NTRK1_000106" "g.156846302G>A" "" "" "" "" "" "Germline" "" "rs138423540" "0" "" "" "g.156876510G>A" "" "VUS" ""
"0000452961" "0" "50" "1" "156841521" "156841521" "subst" "0.000146183" "00006" "NTRK1_000107" "g.156841521A>C" "" "" "" "" "" "Germline" "" "rs138533001" "0" "" "" "g.156871729A>C" "" "VUS" ""
"0000452962" "0" "50" "1" "156838037" "156838037" "subst" "0.000264743" "00006" "NTRK1_000108" "g.156838037C>G" "" "" "" "" "" "Germline" "" "rs138608619" "0" "" "" "g.156868245C>G" "" "VUS" ""
"0000452963" "0" "50" "1" "156845395" "156845395" "subst" "0" "00006" "NTRK1_000109" "g.156845395G>A" "" "" "" "" "" "Germline" "" "rs139731614" "0" "" "" "g.156875603G>A" "" "VUS" ""
"0000452964" "0" "50" "1" "156843595" "156843595" "subst" "0.0000247553" "00006" "NTRK1_000110" "g.156843595G>A" "" "" "" "" "" "Germline" "" "rs139875058" "0" "" "" "g.156873803G>A" "" "VUS" ""
"0000452965" "0" "50" "1" "156843713" "156843713" "subst" "0" "00006" "NTRK1_000111" "g.156843713A>G" "" "" "" "" "" "Germline" "" "rs140644885" "0" "" "" "g.156873921A>G" "" "VUS" ""
"0000452966" "0" "50" "1" "156837937" "156837937" "subst" "0.0000488528" "00006" "NTRK1_000112" "g.156837937G>A" "" "" "" "" "" "Germline" "" "rs141021604" "0" "" "" "g.156868145G>A" "" "VUS" ""
"0000452967" "0" "50" "1" "156845422" "156845422" "subst" "0.0000365904" "00006" "NTRK1_000113" "g.156845422C>T" "" "" "" "" "" "Germline" "" "rs141404661" "0" "" "" "g.156875630C>T" "" "VUS" ""
"0000452968" "0" "50" "1" "156843428" "156843428" "subst" "0.0000209445" "00006" "NTRK1_000114" "g.156843428C>T" "" "" "" "" "" "Germline" "" "rs141483265" "0" "" "" "g.156873636C>T" "" "VUS" ""
"0000452969" "0" "50" "1" "156837936" "156837936" "subst" "0.000016279" "00006" "NTRK1_000115" "g.156837936C>T" "" "" "" "" "" "Germline" "" "rs141629165" "0" "" "" "g.156868144C>T" "" "VUS" ""
"0000452970" "0" "50" "1" "156843739" "156843739" "dup" "0" "00006" "NTRK1_000116" "g.156843739dup" "" "" "" "" "" "Germline" "" "rs142158754" "0" "" "" "g.156873947dup" "" "VUS" ""
"0000452971" "0" "50" "1" "156844728" "156844728" "subst" "0.0000162446" "00006" "NTRK1_000117" "g.156844728G>T" "" "" "" "" "" "Germline" "" "rs142779943" "0" "" "" "g.156874936G>T" "" "VUS" ""
"0000452972" "0" "50" "1" "156849047" "156849047" "subst" "0.0000814949" "00006" "NTRK1_000118" "g.156849047G>T" "" "" "" "" "" "Germline" "" "rs142870382" "0" "" "" "g.156879255G>T" "" "VUS" ""
"0000452973" "0" "50" "1" "156837913" "156837913" "subst" "0.0000325235" "00006" "NTRK1_000119" "g.156837913C>A" "" "" "" "" "" "Germline" "" "rs144609655" "0" "" "" "g.156868121C>A" "" "VUS" ""
"0000452974" "0" "50" "1" "156845431" "156845431" "subst" "0.000476086" "00006" "NTRK1_000211" "g.156845431G>A" "" "" "" "" "" "Germline" "" "rs144901788" "0" "" "" "g.156875639G>A" "" "VUS" ""
"0000452975" "0" "50" "1" "156851405" "156851405" "subst" "0" "00006" "NTRK1_000121" "g.156851405C>T" "" "" "" "" "" "Germline" "" "rs145023447" "0" "" "" "g.156881613C>T" "" "VUS" ""
"0000452976" "0" "50" "1" "156851265" "156851265" "subst" "0.0000603394" "00006" "NTRK1_000122" "g.156851265C>T" "" "" "" "" "" "Germline" "" "rs145081333" "0" "" "" "g.156881473C>T" "" "VUS" ""
"0000452977" "0" "50" "1" "156841505" "156841505" "subst" "0.0000365461" "00006" "NTRK1_000123" "g.156841505G>A" "" "" "" "" "" "Germline" "" "rs145222195" "0" "" "" "g.156871713G>A" "" "VUS" ""
"0000452978" "0" "50" "1" "156844766" "156844766" "subst" "0.000113701" "00006" "NTRK1_000124" "g.156844766C>G" "" "" "" "" "" "Germline" "" "rs147443162" "0" "" "" "g.156874974C>G" "" "VUS" ""
"0000452979" "0" "50" "1" "156838333" "156838333" "subst" "0.000219532" "00006" "NTRK1_000125" "g.156838333C>T" "" "" "" "" "" "Germline" "" "rs148324672" "0" "" "" "g.156868541C>T" "" "VUS" ""
"0000452980" "0" "50" "1" "156848951" "156848951" "subst" "0" "00006" "NTRK1_000126" "g.156848951G>C" "" "" "" "" "" "Germline" "" "rs149663928" "0" "" "" "g.156879159G>C" "" "VUS" ""
"0000452981" "0" "50" "1" "156846300" "156846300" "subst" "0.000146788" "00006" "NTRK1_000127" "g.156846300G>A" "" "" "" "" "" "Germline" "" "rs150579345" "0" "" "" "g.156876508G>A" "" "VUS" ""
"0000452982" "0" "50" "1" "156843611" "156843611" "subst" "0" "00006" "NTRK1_000128" "g.156843611T>C" "" "" "" "" "" "Germline" "" "rs150651692" "0" "" "" "g.156873819T>C" "" "VUS" ""
"0000452983" "0" "50" "1" "156844788" "156844788" "subst" "0.00000406105" "00006" "NTRK1_000129" "g.156844788T>C" "" "" "" "" "" "Germline" "" "rs150839958" "0" "" "" "g.156874996T>C" "" "VUS" ""
"0000452984" "0" "50" "1" "156841514" "156841514" "subst" "0.0000324849" "00006" "NTRK1_000130" "g.156841514C>T" "" "" "" "" "" "Germline" "" "rs151334385" "0" "" "" "g.156871722C>T" "" "VUS" ""
"0000452985" "0" "50" "1" "156844755" "156844755" "subst" "0" "00006" "NTRK1_000131" "g.156844755C>T" "" "" "" "" "" "Germline" "" "rs17425856" "0" "" "" "g.156874963C>T" "" "VUS" ""
"0000452986" "0" "50" "1" "156844800" "156844800" "subst" "0.000113743" "00006" "NTRK1_000132" "g.156844800C>T" "" "" "" "" "" "Germline" "" "rs34900547" "0" "" "" "g.156875008C>T" "" "VUS" ""
"0000452987" "0" "50" "1" "156841475" "156841475" "subst" "0" "00006" "NTRK1_000133" "g.156841475A>G" "" "" "" "" "" "Germline" "" "rs35116695" "0" "" "" "g.156871683A>G" "" "VUS" ""
"0000452988" "0" "50" "1" "156837904" "156837904" "subst" "0.000081316" "00006" "NTRK1_000134" "g.156837904C>T" "0.002/2" "" "" "" "" "Germline" "" "rs41267427" "0" "" "" "g.156868112C>T" "" "VUS" ""
"0000452989" "0" "50" "1" "156846327" "156846327" "subst" "0" "00006" "NTRK1_000135" "g.156846327G>A" "" "" "" "" "" "Germline" "" "rs41325044" "0" "" "" "g.156876535G>A" "" "VUS" ""
"0000452990" "0" "50" "1" "156849800" "156849800" "subst" "0" "00006" "NTRK1_000136" "g.156849800C>G" "" "" "" "" "" "Germline" "" "rs41358549" "0" "" "" "g.156880008C>G" "" "VUS" ""
"0000452991" "0" "50" "1" "156851320" "156851320" "subst" "0" "00006" "NTRK1_000137" "g.156851320C>A" "" "" "" "" "" "Germline" "" "rs41436146" "0" "" "" "g.156881528C>A" "" "VUS" ""
"0000452992" "0" "50" "1" "156848922" "156848922" "subst" "0" "00006" "NTRK1_000138" "g.156848922G>C" "" "" "" "" "" "Germline" "" "rs41470746" "0" "" "" "g.156879130G>C" "" "VUS" ""
"0000452993" "0" "50" "1" "156848999" "156848999" "subst" "0" "00006" "NTRK1_000139" "g.156848999G>C" "" "" "" "" "" "Germline" "" "rs41489348" "0" "" "" "g.156879207G>C" "" "VUS" ""
"0000452994" "0" "50" "1" "156846256" "156846256" "subst" "0.000199325" "00006" "NTRK1_000140" "g.156846256T>C" "" "" "" "" "" "Germline" "" "rs55892037" "0" "" "" "g.156876464T>C" "" "VUS" ""
"0000452995" "0" "50" "1" "156838432" "156838432" "subst" "0.00379513" "00006" "NTRK1_000141" "g.156838432C>T" "0.011/8" "" "" "" "" "Germline" "" "rs55909005" "0" "" "" "g.156868640C>T" "" "VUS" ""
"0000452996" "0" "50" "1" "156851411" "156851411" "subst" "0.0000127656" "00006" "NTRK1_000142" "g.156851411G>A" "" "" "" "" "" "Germline" "" "rs55948542" "0" "" "" "g.156881619G>A" "" "VUS" ""
"0000452997" "0" "50" "1" "156838435" "156838435" "subst" "0" "00006" "NTRK1_000143" "g.156838435T>G" "" "" "" "" "" "Germline" "" "rs56000394" "0" "" "" "g.156868643T>G" "" "VUS" ""
"0000452998" "0" "50" "1" "156844777" "156844777" "subst" "0.00256662" "00006" "NTRK1_000144" "g.156844777G>A" "0.011/10" "" "" "" "" "Germline" "" "rs56320207" "0" "" "" "g.156874985G>A" "" "VUS" ""
"0000453000" "0" "50" "1" "156849029" "156849029" "del" "0" "00006" "NTRK1_000146" "g.156849029del" "" "" "" "1903delC" "" "Germline" "" "rs66774575" "0" "" "" "g.156879237del" "" "VUS" ""
"0000453962" "3" "10" "1" "156848995" "156848995" "subst" "0.58061" "00006" "NTRK1_000064" "g.156848995C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.156879203C>T" "" "benign" ""
"0000453968" "2" "90" "1" "156851346" "156851346" "subst" "0.0000169596" "00006" "NTRK1_000040" "g.156851346C>T" "" "{PMID:Ohto 2004:15534759}" "" "2369C>T" "" "Germline" "" "" "0" "" "" "g.156881554C>T" "" "pathogenic" ""
"0000453969" "0" "90" "1" "156830933" "156830934" "del" "0" "00006" "NTRK1_000210" "g.156830933_156830934del" "" "{PMID:Suriu 2009:19250380}" "" "207_208deTG" "" "Germline" "yes" "" "0" "" "" "g.156861141_156861142del" "" "pathogenic (recessive)" ""
"0000453970" "3" "90" "1" "156830933" "156830934" "del" "0" "00006" "NTRK1_000210" "g.156830933_156830934del" "" "{PMID:Suriu 2009:19250380}" "" "207_208deTG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.156861141_156861142del" "" "pathogenic (recessive)" ""
"0000453971" "21" "90" "1" "156838042" "156838042" "subst" "0" "00006" "NTRK1_000212" "g.156838042G>C" "" "{PMID:Sarasola 2011:21708027}" "" "" "" "Germline" "" "" "0" "" "" "g.156868250G>C" "" "pathogenic (recessive)" ""
"0000453972" "11" "90" "1" "156851247" "156851247" "subst" "0" "00006" "NTRK1_000213" "g.156851247A>G" "" "{PMID:Sarasola 2011:21708027}" "" "" "" "Germline" "" "" "0" "" "" "g.156881455A>G" "" "pathogenic (recessive)" ""
"0000503818" "0" "30" "1" "156785613" "156785613" "subst" "0.0008609" "02330" "NTRK1_000214" "g.156785613A>G" "" "" "" "NTRK1(NM_001007792.1):c.-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156815821A>G" "" "likely benign" ""
"0000503819" "0" "30" "1" "156816335" "156816335" "subst" "0.000410683" "01943" "NTRK1_000215" "g.156816335C>T" "" "" "" "INSRR(NM_014215.3):c.1786G>A (p.V596I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156846543C>T" "" "likely benign" ""
"0000503820" "0" "30" "1" "156830779" "156830779" "subst" "0.00743438" "01804" "NTRK1_000008" "g.156830779G>A" "" "" "" "NTRK1(NM_001012331.1):c.53G>A (p.(Gly18Glu)), NTRK1(NM_002529.3):c.53G>A (p.G18E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156860987G>A" "" "likely benign" ""
"0000503821" "0" "30" "1" "156830843" "156830843" "subst" "0.000056586" "02325" "NTRK1_000179" "g.156830843C>T" "" "" "" "NTRK1(NM_002529.3):c.117C>T (p.A39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156861051C>T" "" "likely benign" ""
"0000503822" "0" "30" "1" "156830948" "156830948" "subst" "0.00114428" "01943" "NTRK1_000180" "g.156830948C>T" "" "" "" "NTRK1(NM_002529.3):c.212+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156861156C>T" "" "likely benign" ""
"0000503823" "0" "30" "1" "156834152" "156834152" "subst" "0.0000568653" "01943" "NTRK1_000216" "g.156834152C>T" "" "" "" "NTRK1(NM_002529.3):c.219C>T (p.I73=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156864360C>T" "" "likely benign" ""
"0000503825" "0" "90" "1" "156834222" "156834222" "dup" "0" "02330" "NTRK1_000048" "g.156834222dup" "" "" "" "NTRK1(NM_002529.3):c.287+2_287+3insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156864430dup" "" "pathogenic" ""
"0000503826" "0" "10" "1" "156834512" "156834512" "subst" "0.00213204" "02330" "NTRK1_000217" "g.156834512C>T" "" "" "" "NTRK1(NM_002529.3):c.288-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156864720C>T" "" "benign" ""
"0000503827" "0" "50" "1" "156834527" "156834527" "subst" "0.00018296" "02330" "NTRK1_000218" "g.156834527G>A" "" "" "" "NTRK1(NM_002529.3):c.295G>A (p.V99M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156864735G>A" "" "VUS" ""
"0000503828" "0" "30" "1" "156834547" "156834547" "subst" "0.000130098" "02330" "NTRK1_000219" "g.156834547C>T" "" "" "" "NTRK1(NM_002529.3):c.315C>T (p.F105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156864755C>T" "" "likely benign" ""
"0000503829" "0" "30" "1" "156834553" "156834553" "subst" "0" "02330" "NTRK1_000220" "g.156834553G>C" "" "" "" "NTRK1(NM_002529.3):c.321G>C (p.A107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156864761G>C" "" "likely benign" ""
"0000503830" "0" "50" "1" "156836698" "156836698" "subst" "0.0000121819" "02330" "NTRK1_000221" "g.156836698G>A" "" "" "" "NTRK1(NM_002529.3):c.360-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156866906G>A" "" "VUS" ""
"0000503831" "0" "50" "1" "156837937" "156837937" "subst" "0.0000488528" "02330" "NTRK1_000112" "g.156837937G>A" "" "" "" "NTRK1(NM_002529.3):c.470G>A (p.R157H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156868145G>A" "" "VUS" ""
"0000503832" "0" "30" "1" "156838048" "156838048" "subst" "0.00000835331" "01804" "NTRK1_000222" "g.156838048G>T" "" "" "" "NTRK1(NM_001007792.1):c.484+7G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156868256G>T" "" "likely benign" ""
"0000503833" "0" "90" "1" "156841419" "156841419" "dup" "0" "02330" "NTRK1_000090" "g.156841419dup" "" "" "" "NTRK1(NM_002529.3):c.722dupC (p.G242Wfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156871627dup" "" "pathogenic" ""
"0000503834" "0" "30" "1" "156843439" "156843439" "subst" "0.000901149" "01943" "NTRK1_000104" "g.156843439C>A" "" "" "" "NTRK1(NM_002529.3):c.865C>A (p.Q289K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156873647C>A" "" "likely benign" ""
"0000503835" "0" "50" "1" "156843527" "156843527" "subst" "0.0000246784" "01804" "NTRK1_000223" "g.156843527A>G" "" "" "" "NTRK1(NM_001007792.1):c.863A>G (p.(Asn288Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156873735A>G" "" "VUS" ""
"0000503836" "0" "50" "1" "156843574" "156843574" "subst" "0" "01943" "NTRK1_000224" "g.156843574G>C" "" "" "" "NTRK1(NM_002529.3):c.1000G>C (p.E334Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156873782G>C" "" "VUS" ""
"0000503837" "0" "30" "1" "156843642" "156843642" "subst" "0.000242661" "02330" "NTRK1_000225" "g.156843642C>T" "" "" "" "NTRK1(NM_002529.3):c.1068C>T (p.N356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156873850C>T" "" "likely benign" ""
"0000503839" "0" "30" "1" "156844703" "156844703" "subst" "0.00055658" "01943" "NTRK1_000226" "g.156844703G>A" "" "" "" "NTRK1(NM_002529.3):c.1257G>A (p.S419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156874911G>A" "" "likely benign" ""
"0000503840" "0" "10" "1" "156844777" "156844777" "subst" "0.00256662" "02330" "NTRK1_000144" "g.156844777G>A" "" "" "" "NTRK1(NM_002529.3):c.1331G>A (p.R444Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156874985G>A" "" "benign" ""
"0000503842" "0" "90" "1" "156845895" "156845896" "ins" "0" "02330" "NTRK1_000227" "g.156845895_156845896insGACATCGG" "" "" "" "NTRK1(NM_002529.3):c.1525_1526insGACATCGG (p.D509Gfs*41)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156876103_156876104insGACATCGG" "" "pathogenic" ""
"0000503843" "0" "90" "1" "156845925" "156845925" "subst" "0" "02330" "NTRK1_000228" "g.156845925G>C" "" "" "" "NTRK1(NM_002529.3):c.1555G>C (p.G519R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156876133G>C" "" "pathogenic" ""
"0000503844" "0" "70" "1" "156846364" "156846364" "subst" "0" "02327" "NTRK1_000017" "g.156846364G>A" "" "" "" "NTRK1(NM_002529.3):c.1805G>A (p.R602Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156876572G>A" "" "likely pathogenic" ""
"0000503845" "0" "90" "1" "156848968" "156848969" "ins" "0" "02330" "NTRK1_000023" "g.156848968_156848969insT" "" "" "" "NTRK1(NM_002529.3):c.1860_1861insT (p.P621Sfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156879176_156879177insT" "" "pathogenic" ""
"0000503846" "0" "50" "1" "156849093" "156849093" "subst" "0" "02330" "NTRK1_000229" "g.156849093T>C" "" "" "" "NTRK1(NM_002529.3):c.1985T>C (p.L662P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156879301T>C" "" "VUS" ""
"0000503847" "0" "10" "1" "156849780" "156849780" "subst" "0.0122089" "02330" "NTRK1_000230" "g.156849780G>A" "" "" "" "NTRK1(NM_002529.3):c.2047-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156879988G>A" "" "benign" ""
"0000503848" "0" "50" "1" "156849882" "156849882" "subst" "0" "02327" "NTRK1_000231" "g.156849882T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156880090T>C" "" "VUS" ""
"0000503849" "0" "90" "1" "156849894" "156849894" "subst" "0" "02330" "NTRK1_000035" "g.156849894T>G" "" "" "" "NTRK1(NM_002529.3):c.2150T>G (p.L717R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156880102T>G" "" "pathogenic" ""
"0000503850" "0" "90" "1" "156849899" "156849899" "subst" "0" "02330" "NTRK1_000037" "g.156849899G>A" "" "" "" "NTRK1(NM_002529.3):c.2155G>A (p.E719K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156880107G>A" "" "pathogenic" ""
"0000503851" "0" "50" "1" "156851324" "156851324" "subst" "0" "02327" "NTRK1_000039" "g.156851324C>T" "" "" "" "NTRK1(NM_002529.3):c.2281C>T (p.R761W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156881532C>T" "" "VUS" ""
"0000503853" "0" "30" "1" "156851437" "156851437" "subst" "0" "02330" "NTRK1_000232" "g.156851437G>A" "" "" "" "NTRK1(NM_002529.3):c.*3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156881645G>A" "" "likely benign" ""
"0000604916" "0" "30" "1" "156785646" "156785646" "subst" "0.000243718" "02330" "NTRK1_000233" "g.156785646G>T" "" "" "" "NTRK1(NM_001007792.1):c.9+16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156815854G>T" "" "likely benign" ""
"0000604917" "0" "30" "1" "156843439" "156843439" "subst" "0.000901149" "02326" "NTRK1_000104" "g.156843439C>A" "" "" "" "NTRK1(NM_002529.3):c.865C>A (p.Q289K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156873647C>A" "" "likely benign" ""
"0000604918" "0" "30" "1" "156848953" "156848953" "subst" "0" "01943" "NTRK1_000236" "g.156848953G>A" "" "" "" "NTRK1(NM_002529.3):c.1845G>A (p.E615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156879161G>A" "" "likely benign" ""
"0000620411" "0" "50" "1" "156841526" "156841526" "subst" "0" "02330" "NTRK1_000234" "g.156841526T>G" "" "" "" "NTRK1(NM_002529.3):c.829T>G (p.S277A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156871734T>G" "" "VUS" ""
"0000620412" "0" "30" "1" "156844778" "156844778" "subst" "0" "02330" "NTRK1_000235" "g.156844778G>A" "" "" "" "NTRK1(NM_002529.3):c.1332G>A (p.R444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156874986G>A" "" "likely benign" ""
"0000624907" "3" "90" "1" "156848968" "156848969" "ins" "0" "01807" "NTRK1_000023" "g.156848968_156848969insT" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.156879176_156879177insT" "" "pathogenic" ""
"0000647400" "1" "50" "1" "156843514" "156843514" "subst" "0.00026824" "03575" "NTRK1_000105" "g.156843514C>T" "5/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; {DB:CLININrs137994522}" "Germline" "" "rs137994522" "0" "" "" "g.156873722C>T" "" "VUS" ""
"0000647401" "1" "30" "1" "156848946" "156848946" "subst" "0.0417312" "03575" "NTRK1_000190" "g.156848946G>T" "245/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "245 heterozygous; {DB:CLININrs6339}" "Germline" "" "rs6339" "0" "" "" "g.156879154G>T" "" "likely benign" ""
"0000653784" "0" "30" "1" "156821832" "156821832" "subst" "0.000615947" "02327" "NTRK1_000237" "g.156821832C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156852040C>T" "" "likely benign" ""
"0000653785" "0" "50" "1" "156830911" "156830911" "subst" "0" "01943" "NTRK1_000238" "g.156830911T>C" "" "" "" "NTRK1(NM_002529.3):c.185T>C (p.L62P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156861119T>C" "" "VUS" ""
"0000668965" "3" "30" "1" "156848946" "156848946" "subst" "0.0417312" "03575" "NTRK1_000190" "g.156848946G>T" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 homozygous; {DB:CLININrs6339}" "Germline" "" "rs6339" "0" "" "" "g.156879154G>T" "" "likely benign" ""
"0000675507" "0" "50" "1" "156837904" "156837904" "subst" "0.000081316" "02325" "NTRK1_000134" "g.156837904C>T" "" "" "" "NTRK1(NM_001012331.1):c.437C>T (p.S146L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000675508" "0" "50" "1" "156838350" "156838350" "subst" "0.0000643401" "02330" "NTRK1_000239" "g.156838350G>A" "" "" "" "NTRK1(NM_002529.3):c.628G>A (p.D210N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000687904" "0" "30" "1" "156830742" "156830742" "subst" "0.00320506" "02326" "NTRK1_000177" "g.156830742C>T" "" "" "" "NTRK1(NM_002529.3):c.16C>T (p.R6W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000687905" "0" "10" "1" "156836782" "156836782" "subst" "0.00255423" "02330" "NTRK1_000096" "g.156836782C>A" "" "" "" "NTRK1(NM_002529.3):c.428+12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000716912" "0" "50" "1" "156821145" "156821145" "subst" "0" "01943" "NTRK1_000240" "g.156821145G>A" "" "" "" "INSRR(NM_014215.3):c.1166C>T (p.A389V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000716913" "0" "30" "1" "156834212" "156834212" "subst" "0.000105694" "02330" "NTRK1_000241" "g.156834212G>A" "" "" "" "NTRK1(NM_002529.3):c.279G>A (p.L93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000716914" "0" "30" "1" "156834553" "156834553" "subst" "0" "01943" "NTRK1_000242" "g.156834553G>T" "" "" "" "NTRK1(NM_002529.3):c.321G>T (p.A107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000716915" "0" "30" "1" "156851441" "156851441" "subst" "0.000408637" "02330" "NTRK1_000243" "g.156851441G>T" "" "" "" "NTRK1(NM_002529.3):c.*7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000763388" "0" "70" "1" "156834227" "156834227" "subst" "0" "03219" "NTRK1_000244" "g.156834227G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG"
"0000763550" "3" "90" "1" "156834227" "156834227" "subst" "0" "03219" "NTRK1_000244" "g.156834227G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000786972" "0" "90" "1" "156836746" "156836747" "del" "0" "00006" "NTRK1_000245" "g.156836746_156836747del" "" "{PMID:Ganapathy 2019:31069529}" "" "c.404_405delTG" "" "Germline" "" "" "0" "" "" "g.156866954_156866955del" "" "pathogenic" ""
"0000786973" "3" "70" "1" "" "" "" "" "00006" "NPHS2_000000" "g.?" "" "{PMID:Ganapathy 2019:31069529}" "" "c.2115G>A (Trp705Ter)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000787161" "1" "50" "1" "156843604" "156843604" "subst" "0" "00006" "NTRK1_000246" "g.156843604G>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.156873812G>C" "" "VUS" ""
"0000787509" "0" "90" "1" "" "" "" "" "00000" "NPHS2_000000" "g.?" "" "0" "" "c.1787G>A (Arg596Gln)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000787550" "2" "50" "1" "" "" "" "" "00000" "NPHS2_000000" "g.?" "" "0" "" "c.2294G>A (Arg765His)" "" "Germline" "" "rs780724170" "0" "" "" "" "" "VUS" ""
"0000795218" "0" "70" "1" "156844701" "156844702" "del" "0" "00000" "NTRK1_000248" "g.156844701_156844702del" "159" "{PMID:Sun 2018:30076350}" "" "NTRK1(NM_002529.3):c.632T>A(p.V211E)/c.1253_1254delTC(p.S419Gfs*80)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.156874909_156874910del" "" "likely pathogenic" ""
"0000795248" "0" "70" "1" "156843392" "156843392" "subst" "0.0000345045" "00000" "NTRK1_000067" "g.156843392T>A" "245" "{PMID:Sun 2018:30076350}" "" "NTRK1(NM_002529.3):c.851-33T>A/c.1805G>A(p.R602Q)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.156873600T>A" "" "likely pathogenic" ""
"0000795309" "0" "70" "1" "156838354" "156838354" "subst" "0" "00000" "NTRK1_000247" "g.156838354T>A" "159" "{PMID:Sun 2018:30076350}" "" "NTRK1(NM_002529.3):c.632T>A(p.V211E)/c.1253_1254delTC(p.S419Gfs*80)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.156868562T>A" "" "likely pathogenic" ""
"0000795349" "0" "70" "1" "156846364" "156846364" "subst" "0" "00000" "NTRK1_000017" "g.156846364G>A" "245" "{PMID:Sun 2018:30076350}" "" "NTRK1(NM_002529.3):c.851-33T>A/c.1805G>A(p.R602Q)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.156876572G>A" "" "likely pathogenic" ""
"0000795638" "3" "70" "1" "156849950" "156849950" "subst" "0" "00000" "NTRK1_000249" "g.156849950G>A" "" "{PMID:Nair 2018:30293248}" "" "NM_002529.3:c.2205+1G>A;" "" "Unknown" "?" "" "0" "" "" "g.156880158G>A" "" "likely pathogenic" ""
"0000798849" "0" "30" "1" "156838433" "156838433" "subst" "0.000529769" "01943" "NTRK1_000250" "g.156838433G>A" "" "" "" "NTRK1(NM_002529.3):c.711G>A (p.T237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000798850" "0" "10" "1" "156843654" "156843654" "subst" "0.0031168" "02330" "NTRK1_000251" "g.156843654G>A" "" "" "" "NTRK1(NM_002529.3):c.1080G>A (p.T360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000798851" "0" "50" "1" "156846279" "156846279" "subst" "0.0000122115" "01943" "NTRK1_000252" "g.156846279C>T" "" "" "" "NTRK1(NM_002529.3):c.1720C>T (p.R574C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000798852" "0" "50" "1" "156851285" "156851285" "subst" "0" "02330" "NTRK1_000253" "g.156851285C>T" "" "" "" "NTRK1(NM_002529.3):c.2242C>T (p.R748W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000798853" "0" "50" "1" "156851440" "156851440" "subst" "0.000157069" "02330" "NTRK1_000254" "g.156851440C>T" "" "" "" "NTRK1(NM_002529.3):c.*6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000841177" "3" "90" "1" "156848968" "156848969" "ins" "0" "00006" "NTRK1_000023" "g.156848968_156848969insT" "" "{PMID:Froukh 2020:32056211}" "" "" "" "Germline" "" "" "0" "" "" "g.156879176_156879177insT" "" "pathogenic (recessive)" ""
"0000848345" "0" "30" "1" "156838016" "156838016" "subst" "0.0000123061" "02330" "NTRK1_000255" "g.156838016G>T" "" "" "" "NTRK1(NM_002529.3):c.549G>T (p.L183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000857077" "0" "50" "1" "156846300" "156846300" "subst" "0.000146788" "02330" "NTRK1_000127" "g.156846300G>A" "" "" "" "NTRK1(NM_002529.3):c.1741G>A (p.E581K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857078" "0" "10" "1" "156848968" "156848968" "subst" "0.0102665" "02326" "NTRK1_000193" "g.156848968C>T" "" "" "" "NTRK1(NM_002529.3):c.1860C>T (p.G620=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
## 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 NTRK1
## Count = 395
"{{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}}"
"0000000126" "00000106" "50" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(His604Tyr)" "15"
"0000000127" "00000106" "50" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(His604Tyr)" "15"
"0000000128" "00000106" "50" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(His604Tyr)" "15"
"0000063598" "00000106" "90" "2279" "0" "2279" "0" "c.2279T>C" "r.(?)" "p.(Met760Thr)" "17"
"0000063599" "00000106" "50" "-78" "0" "-78" "0" "c.-78A>G" "r.(=)" "p.(=)" "_1"
"0000063600" "00000106" "10" "2339" "0" "2339" "0" "c.2339G>A" "r.(=)" "p.(Arg780Gln)" "17"
"0000063601" "00000106" "10" "287" "49" "287" "49" "c.287+49G>T" "r.(=)" "p.(=)" "2i"
"0000063602" "00000106" "10" "428" "68" "428" "68" "c.428+68T>C" "r.(=)" "p.(=)" "4i"
"0000063603" "00000106" "10" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Gly18Glu)" "1"
"0000063604" "00000106" "90" "574" "1" "574" "1" "c.574+1G>A" "r.(=)" "p.(=)" "5i"
"0000063605" "00000106" "10" "429" "-49" "429" "-49" "c.429-49T>C" "r.(=)" "p.(=)" "4i"
"0000063606" "00000106" "10" "2047" "-16" "2047" "-16" "c.2047-16T>C" "r.(=)" "p.(=)" "15i"
"0000063607" "00000106" "90" "274" "0" "274" "0" "c.274dup" "r.(?)" "p.(Glu92Glyfs*81)" "2"
"0000063608" "00000106" "10" "850" "127" "850" "127" "c.850+127G>A" "r.(=)" "p.(=)" "7i"
"0000063609" "00000106" "10" "1806" "-4" "1806" "-4" "c.1806-4del" "r.(=)" "p.(=)" "14i"
"0000063610" "00000106" "50" "1806" "-93" "1806" "-93" "c.1806-93C>T" "r.(=)" "p.(=)" "14i"
"0000063611" "00000106" "50" "851" "-2" "851" "-2" "c.851-2A>G" "r.(=)" "p.(=)" "7i"
"0000063612" "00000106" "50" "212" "59" "212" "59" "c.212+59A>C" "r.(=)" "p.(=)" "1i"
"0000063613" "00000106" "10" "428" "197" "428" "197" "c.428+197A>G" "r.(=)" "p.(=)" "4i"
"0000128524" "00000106" "90" "1550" "0" "1550" "0" "c.1550G>A" "r.(?)" "p.(Gly517Glu)" "13"
"0000128525" "00000106" "90" "1565" "0" "1565" "0" "c.1565G>A" "r.(?)" "p.(Gly522Glu)" "12"
"0000128526" "00000106" "30" "2254" "0" "2254" "0" "c.2254T>A" "r.(?)" "p.(Cys752Ser)" "17"
"0000128527" "00000106" "90" "1970" "0" "1970" "0" "c.1970T>C" "r.(?)" "p.(Leu657Pro)" "15"
"0000128528" "00000106" "90" "2096" "0" "2096" "0" "c.2096T>C" "r.(?)" "p.(Ile699Thr)" "15"
"0000128568" "00000106" "90" "2288" "0" "2288" "0" "c.2288G>C" "r.(?)" "p.(Cys763Ser)" "16"
"0000128569" "00000106" "50" "2311" "0" "2311" "0" "c.2311C>T" "r.(?)" "p.(Arg771Cys)" ""
"0000128570" "00000106" "90" "2311" "0" "2311" "0" "c.2311C>T" "r.(?)" "p.(Arg771Cys)" "17"
"0000130220" "00000106" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Gln176*)" ""
"0000245439" "00000106" "10" "2052" "0" "2052" "0" "c.2052A>G" "r.(?)" "p.(Gly684=)" ""
"0000245500" "00000106" "10" "1806" "-4" "1806" "-4" "c.1806-4del" "r.spl?" "p.?" ""
"0000245566" "00000106" "90" "1759" "0" "1759" "0" "c.1759A>G" "r.(?)" "p.(Met587Val)" ""
"0000245573" "00000106" "90" "1076" "0" "1076" "0" "c.1076A>G" "r.(?)" "p.(Tyr359Cys)" ""
"0000245574" "00000106" "90" "2046" "3" "2046" "3" "c.2046+3A>C" "r.spl?" "p.?" ""
"0000245601" "00000106" "50" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Gln80Arg)" ""
"0000289659" "00000106" "30" "-8972" "0" "-8972" "0" "c.-8972C>T" "r.(?)" "p.(=)" ""
"0000293277" "00000106" "90" "1077" "0" "1077" "0" "c.1077C>A" "r.(?)" "p.(Tyr359Ter)" ""
"0000293278" "00000106" "10" "117" "0" "117" "0" "c.117C>T" "r.(?)" "p.(Ala39=)" ""
"0000293279" "00000106" "90" "1196" "-1" "1196" "-1" "c.1196-1G>A" "r.spl?" "p.?" ""
"0000293281" "00000106" "90" "1564" "0" "1564" "0" "c.1564G>A" "r.(?)" "p.(Gly522Arg)" ""
"0000293282" "00000106" "90" "1633" "-1" "1633" "-1" "c.1633-1G>T" "r.spl?" "p.?" ""
"0000293283" "00000106" "90" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Gln558Ter)" ""
"0000293284" "00000106" "10" "1674" "0" "1674" "0" "c.1674G>A" "r.(?)" "p.(Gln558=)" ""
"0000293285" "00000106" "30" "16" "0" "16" "0" "c.16C>T" "r.(?)" "p.(Arg6Trp)" ""
"0000293286" "00000106" "90" "1715" "0" "1715" "0" "c.1715T>G" "r.(?)" "p.(Ile572Ser)" ""
"0000293287" "00000106" "90" "1729" "0" "1729" "0" "c.1729G>C" "r.(?)" "p.(Gly577Arg)" ""
"0000293288" "00000106" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Ter)" ""
"0000293289" "00000106" "90" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" ""
"0000293290" "00000106" "50" "1808" "0" "1808" "0" "c.1808C>G" "r.(?)" "p.(Ser603Cys)" ""
"0000293291" "00000106" "10" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(His604Tyr)" ""
"0000293292" "00000106" "10" "1838" "0" "1838" "0" "c.1838G>T" "r.(?)" "p.(Gly613Val)" ""
"0000293293" "00000106" "90" "1843" "0" "1843" "0" "c.1843G>T" "r.(?)" "p.(Glu615Ter)" ""
"0000293294" "00000106" "90" "1849" "0" "1849" "0" "c.1849G>T" "r.(?)" "p.(Val617Leu)" ""
"0000293296" "00000106" "10" "1860" "0" "1860" "0" "c.1860C>T" "r.(?)" "p.(Gly620=)" ""
"0000293297" "00000106" "90" "1877" "0" "1877" "0" "c.1877dup" "r.(?)" "p.(Leu627AlafsTer6)" ""
"0000293298" "00000106" "10" "1887" "0" "1887" "0" "c.1887C>T" "r.(?)" "p.(Ala629=)" ""
"0000293299" "00000106" "30" "1908" "0" "1908" "0" "c.1908G>A" "r.(?)" "p.(Ala636=)" ""
"0000293300" "00000106" "90" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Arg649Trp)" ""
"0000293301" "00000106" "90" "1960" "0" "1960" "0" "c.1960C>T" "r.(?)" "p.(Arg654Cys)" ""
"0000293302" "00000106" "90" "2002" "0" "2002" "0" "c.2002G>T" "r.(?)" "p.(Asp668Tyr)" ""
"0000293303" "00000106" "10" "2047" "-16" "2047" "-16" "c.2047-16T>C" "r.(=)" "p.(=)" ""
"0000293304" "00000106" "90" "2084" "0" "2084" "0" "c.2084C>T" "r.(?)" "p.(Pro695Leu)" ""
"0000293305" "00000106" "30" "212" "10" "212" "10" "c.212+10C>T" "r.(=)" "p.(=)" ""
"0000293306" "00000106" "90" "2140" "0" "2140" "0" "c.2140G>A" "r.(?)" "p.(Gly714Ser)" ""
"0000293307" "00000106" "90" "2144" "0" "2144" "0" "c.2144T>C" "r.(?)" "p.(Val715Ala)" ""
"0000293308" "00000106" "90" "2271" "0" "2271" "0" "c.2271C>G" "r.(?)" "p.(Tyr757Ter)" ""
"0000293309" "00000106" "90" "2281" "0" "2281" "0" "c.2281C>T" "r.(?)" "p.(Arg761Trp)" ""
"0000293310" "00000106" "90" "2303" "0" "2303" "0" "c.2303C>T" "r.(?)" "p.(Pro768Leu)" ""
"0000293311" "00000106" "90" "2308" "0" "2308" "0" "c.2308C>T" "r.(?)" "p.(Gln770Ter)" ""
"0000293312" "00000106" "90" "2328" "0" "2328" "0" "c.2328dup" "r.(?)" "p.(Val777CysfsTer91)" ""
"0000293313" "00000106" "10" "2334" "0" "2334" "0" "c.2334C>T" "r.(?)" "p.(His778=)" ""
"0000293314" "00000106" "10" "2339" "0" "2339" "0" "c.2339G>A" "r.(?)" "p.(Arg780Gln)" ""
"0000293315" "00000106" "90" "2339" "0" "2339" "0" "c.2339G>C" "r.(?)" "p.(Arg780Pro)" ""
"0000293316" "00000106" "50" "253" "0" "253" "0" "c.253C>A" "r.(?)" "p.(Arg85Ser)" ""
"0000293317" "00000106" "90" "25" "0" "25" "0" "c.25C>T" "r.(?)" "p.(Gln9Ter)" ""
"0000293318" "00000106" "90" "278" "0" "278" "0" "c.278T>C" "r.(?)" "p.(Leu93Pro)" ""
"0000293319" "00000106" "90" "359" "5" "359" "5" "c.359+5G>T" "r.spl?" "p.?" ""
"0000293320" "00000106" "50" "429" "-1" "429" "-1" "c.429-1G>C" "r.spl?" "p.?" ""
"0000293321" "00000106" "50" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Arg161His)" ""
"0000293322" "00000106" "90" "490" "0" "490" "0" "c.490G>T" "r.(?)" "p.(Glu164Ter)" ""
"0000293323" "00000106" "90" "496" "0" "496" "0" "c.496G>T" "r.(?)" "p.(Gly166Ter)" ""
"0000293324" "00000106" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Gln176Ter)" ""
"0000293325" "00000106" "10" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Gly18Glu)" ""
"0000293326" "00000106" "70" "574" "1" "574" "1" "c.574+1G>A" "r.spl?" "p.?" ""
"0000293327" "00000106" "90" "638" "0" "638" "0" "c.638T>C" "r.(?)" "p.(Leu213Pro)" ""
"0000293328" "00000106" "30" "710" "0" "710" "0" "c.710C>T" "r.(?)" "p.(Thr237Met)" ""
"0000293329" "00000106" "90" "717" "1" "717" "1" "c.717+1G>C" "r.spl?" "p.?" ""
"0000293330" "00000106" "90" "850" "1" "850" "1" "c.850+1G>A" "r.spl?" "p.?" ""
"0000293331" "00000106" "90" "851" "-33" "851" "-33" "c.851-33T>A" "r.(=)" "p.(=)" ""
"0000293332" "00000106" "50" "865" "0" "865" "0" "c.865C>A" "r.(?)" "p.(Gln289Lys)" ""
"0000293333" "00000106" "50" "-18767" "0" "-18767" "0" "c.-18767C>T" "r.(?)" "p.(=)" ""
"0000295809" "00000106" "10" "-45110" "0" "-45110" "0" "c.-45110G>A" "r.(?)" "p.(=)" ""
"0000296641" "00000106" "10" "-45110" "0" "-45110" "0" "c.-45110G>A" "r.(?)" "p.(=)" ""
"0000296642" "00000106" "10" "1674" "0" "1674" "0" "c.1674G>A" "r.(?)" "p.(Gln558=)" ""
"0000296643" "00000106" "10" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(His604Tyr)" ""
"0000296644" "00000106" "10" "1838" "0" "1838" "0" "c.1838G>T" "r.(?)" "p.(Gly613Val)" ""
"0000296645" "00000106" "10" "1887" "0" "1887" "0" "c.1887C>T" "r.(?)" "p.(Ala629=)" ""
"0000298752" "00000106" "90" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Trp162Ter)" ""
"0000300457" "00000106" "30" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(His604Tyr)" ""
"0000300458" "00000106" "30" "1838" "0" "1838" "0" "c.1838G>T" "r.(?)" "p.(Gly613Val)" ""
"0000304657" "00000106" "10" "1728" "0" "1728" "0" "c.1728C>T" "r.(?)" "p.(Phe576=)" ""
"0000304658" "00000106" "50" "1741" "0" "1741" "0" "c.1741G>A" "r.(?)" "p.(Glu581Lys)" ""
"0000304659" "00000106" "30" "1908" "0" "1908" "0" "c.1908G>A" "r.(?)" "p.(Ala636=)" ""
"0000304660" "00000106" "30" "875" "0" "875" "0" "c.875C>T" "r.(?)" "p.(Thr292Met)" ""
"0000339492" "00000106" "10" "1674" "0" "1674" "0" "c.1674G>A" "r.(?)" "p.(Gln558=)" ""
"0000340658" "00000106" "10" "1887" "0" "1887" "0" "c.1887C>T" "r.(?)" "p.(Ala629=)" ""
"0000340793" "00000106" "10" "2052" "0" "2052" "0" "c.2052A>G" "r.(?)" "p.(Gly684=)" ""
"0000341116" "00000106" "70" "329" "0" "329" "0" "c.329C>A" "r.(?)" "p.(Ala110Asp)" ""
"0000345517" "00000106" "50" "2089" "0" "2089" "0" "c.2089G>A" "r.(?)" "p.(Glu697Lys)" ""
"0000345819" "00000106" "10" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Gly18Glu)" ""
"0000346190" "00000106" "10" "1838" "0" "1838" "0" "c.1838G>T" "r.(?)" "p.(Gly613Val)" ""
"0000346504" "00000106" "10" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(His604Tyr)" ""
"0000346789" "00000106" "50" "2096" "0" "2096" "0" "c.2096T>C" "r.(?)" "p.(Ile699Thr)" ""
"0000350732" "00000106" "70" "359" "5" "359" "5" "c.359+5G>T" "r.spl?" "p.?" ""
"0000452741" "00000106" "70" "1076" "0" "1076" "0" "c.1076A>G" "r.(?)" "p.(Tyr359Cys)" "8"
"0000452743" "00000106" "10" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(His604Tyr)" ""
"0000452744" "00000106" "10" "1838" "0" "1838" "0" "c.1838G>T" "r.(?)" "p.(Gly613Val)" ""
"0000452751" "00000106" "90" "2344" "0" "2344" "0" "c.2344C>T" "r.(?)" "p.(Gln782*)" ""
"0000452752" "00000106" "50" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Glu388Lys)" ""
"0000452753" "00000106" "90" "1202" "0" "1202" "0" "c.1202del" "r.(?)" "p.(Asn401Thrfs*69)" ""
"0000452754" "00000106" "90" "851" "-33" "851" "-33" "c.851-33T>A" "r.spl" "p.(=)" ""
"0000452755" "00000106" "90" "1522" "0" "1523" "0" "c.1522_1523del" "r.(?)" "p.(Arg508Glyfs*20)" ""
"0000452757" "00000106" "90" "1524" "0" "1531" "0" "c.1524_1531dup" "r.(?)" "p.(Val511Glyfs*39)" ""
"0000452759" "00000106" "90" "1565" "0" "1565" "0" "c.1565G>C" "r.(?)" "p.(Gly522Ala)" ""
"0000452760" "00000106" "90" "638" "0" "638" "0" "c.638T>C" "r.(?)" "p.(Leu213Pro)" ""
"0000452761" "00000106" "90" "1556" "0" "1556" "0" "c.1556del" "r.(?)" "p.(Gly519Alafs*28)" ""
"0000452762" "00000106" "90" "1660" "0" "1660" "0" "c.1660del" "r.(?)" "p.(Arg554Glyfs*104)" ""
"0000452764" "00000106" "90" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Gln558*)" ""
"0000452765" "00000106" "90" "2150" "0" "2150" "0" "c.2150T>G" "r.(?)" "p.(Leu717Arg)" ""
"0000452766" "00000106" "90" "1715" "0" "1715" "0" "c.1715T>G" "r.(?)" "p.(Ile572Ser)" ""
"0000452768" "00000106" "90" "1729" "0" "1729" "0" "c.1729G>C" "r.(?)" "p.(Gly577Arg)" ""
"0000452770" "00000106" "90" "1759" "0" "1759" "0" "c.1759A>G" "r.(?)" "p.(Met587Val)" ""
"0000452772" "00000106" "90" "1805" "0" "1805" "0" "c.1805G>A" "r.spl?" "p.(Arg602Gln)" ""
"0000452775" "00000106" "90" "2140" "0" "2140" "0" "c.2140G>A" "r.(?)" "p.(Gly714Ser)" ""
"0000452777" "00000106" "90" "574" "1" "574" "1" "c.574+1G>A" "r.spl" "p.?" "5i"
"0000452778" "00000106" "50" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(His604Tyr)" ""
"0000452779" "00000106" "50" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(His604Tyr)" ""
"0000452780" "00000106" "90" "1843" "0" "1843" "0" "c.1843G>T" "r.(?)" "p.(Glu615*)" ""
"0000452781" "00000106" "50" "1849" "0" "1849" "0" "c.1849G>T" "r.(?)" "p.(Val617Leu)" ""
"0000452783" "00000106" "90" "1660" "0" "1660" "0" "c.1660del" "r.(?)" "p.(Arg554Glyfs*104)" ""
"0000452785" "00000106" "90" "1860" "0" "1861" "0" "c.1860_1861insT" "r.(?)" "p.(Pro621Serfs*12)" ""
"0000452787" "00000106" "90" "1877" "0" "1877" "0" "c.1877dup" "r.(?)" "p.(Leu627Alafs*6)" ""
"0000452788" "00000106" "90" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Arg649Trp)" ""
"0000452790" "00000106" "90" "200" "0" "200" "0" "c.200del" "r.(?)" "p.(Asn67Thrfs*2)" ""
"0000452793" "00000106" "90" "2104" "0" "2104" "0" "c.2104dup" "r.(?)" "p.(Arg702Profs*2)" ""
"0000452794" "00000106" "90" "850" "1" "850" "1" "c.850+1G>A" "r.spl" "p.?" "7i"
"0000452796" "00000106" "10" "2049" "0" "2049" "0" "c.2049G>C" "r.(=)" "p.(=)" ""
"0000452797" "00000106" "10" "2110" "0" "2110" "0" "c.2110T>C" "r.(?)" "p.(Phe704Leu)" ""
"0000452798" "00000106" "90" "2170" "0" "2170" "0" "c.2170G>A" "r.(?)" "p.(Gly724Ser)" ""
"0000452799" "00000106" "90" "2233" "0" "2233" "0" "c.2233G>C" "r.(?)" "p.(Glu745Gln)" ""
"0000452800" "00000106" "90" "717" "1" "717" "1" "c.717+1G>C" "r.spl" "p.?" ""
"0000452801" "00000106" "90" "2144" "0" "2144" "0" "c.2144T>C" "r.(?)" "p.(Val715Ala)" ""
"0000452802" "00000106" "90" "1354" "13" "1623" "0" "c.1354+13_1623del" "r.spl?" "p.?" ""
"0000452804" "00000106" "90" "722" "0" "722" "0" "c.722dup" "r.(?)" "p.(Gly242Trpfs*16)" ""
"0000452806" "00000106" "90" "2155" "0" "2155" "0" "c.2155G>A" "r.(?)" "p.(Glu719Lys)" ""
"0000452807" "00000106" "90" "287" "2" "287" "2" "c.287+2dup" "r.spl" "p.?" ""
"0000452808" "00000106" "90" "2271" "0" "2271" "0" "c.2271C>G" "r.(?)" "p.(Tyr757*)" ""
"0000452809" "00000106" "90" "2281" "0" "2281" "0" "c.2281C>T" "r.(?)" "p.(Arg761Trp)" ""
"0000452811" "00000106" "90" "2281" "0" "2281" "0" "c.2281C>T" "r.(?)" "p.(Arg761Trp)" ""
"0000452813" "00000106" "90" "2308" "0" "2308" "0" "c.2308C>T" "r.(?)" "p.(Gln770*)" ""
"0000452814" "00000106" "90" "2339" "0" "2339" "0" "c.2339G>C" "r.(?)" "p.(Arg780Pro)" ""
"0000452816" "00000106" "90" "1633" "-1" "1633" "-1" "c.1633-1G>T" "r.spl" "p.?" ""
"0000452817" "00000106" "90" "429" "-1" "429" "-1" "c.429-1G>C" "r.spl" "p.?" "4i"
"0000452818" "00000106" "50" "253" "0" "253" "0" "c.253C>A" "r.(?)" "p.(Arg85Ser)" ""
"0000452821" "00000106" "50" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(His604Tyr)" ""
"0000452822" "00000106" "50" "1838" "0" "1838" "0" "c.1838G>T" "r.(?)" "p.(Gly613Val)" ""
"0000452823" "00000106" "90" "25" "0" "25" "0" "c.25C>T" "r.(?)" "p.(Gln9*)" ""
"0000452827" "00000106" "90" "851" "-33" "851" "-33" "c.851-33T>A" "r.spl" "p.(=)" ""
"0000452829" "00000106" "90" "496" "0" "496" "0" "c.496G>T" "r.(?)" "p.(Gly166*)" ""
"0000452830" "00000106" "90" "354" "0" "359" "3" "c.354_359+3del" "r.spl" "p.?" ""
"0000452831" "00000106" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Gln176*)" ""
"0000452833" "00000106" "90" "543" "0" "543" "0" "c.543del" "r.(?)" "p.(Leu183Trpfs*14)" ""
"0000452834" "00000106" "90" "924" "0" "930" "0" "c.924_930del" "r.(?)" "p.(Gln308Hisfs*160)" ""
"0000452835" "00000106" "90" "638" "0" "638" "0" "c.638T>C" "r.(?)" "p.(Leu213Pro)" ""
"0000452836" "00000106" "30" "1355" "-158" "1355" "-158" "c.1355-158G>A" "r.(=)" "p.(=)" ""
"0000452838" "00000106" "90" "2046" "3" "2046" "3" "c.2046+3A>C" "r.[1806_2046del,1900_2046del]" "p.[Ser603fs*,Val634_Arg682del]" ""
"0000452842" "00000106" "90" "1860" "0" "1861" "0" "c.1860_1861insT" "r.(?)" "p.(Pro621Serfs*12)" ""
"0000452844" "00000106" "10" "1887" "0" "1887" "0" "c.1887C>T" "r.(=)" "p.(=)" ""
"0000452845" "00000106" "10" "1928" "0" "1928" "0" "c.1928G>T" "r.(?)" "p.(Gly643Val)" ""
"0000452846" "00000106" "90" "2084" "0" "2084" "0" "c.2084C>T" "r.(?)" "p.(Pro695Leu)" ""
"0000452848" "00000106" "10" "2052" "0" "2052" "0" "c.2052A>G" "r.(=)" "p.(=)" ""
"0000452849" "00000106" "90" "1660" "0" "1660" "0" "c.1660del" "r.(?)" "p.(Arg554Glyfs*104)" ""
"0000452850" "00000106" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602*)" ""
"0000452851" "00000106" "90" "1077" "0" "1077" "0" "c.1077C>A" "r.(?)" "p.(Tyr359*)" ""
"0000452852" "00000106" "90" "1660" "0" "1660" "0" "c.1660del" "r.(?)" "p.(Arg554Glyfs*104)" ""
"0000452853" "00000106" "90" "1660" "0" "1660" "0" "c.1660del" "r.(?)" "p.(Arg554Glyfs*104)" ""
"0000452854" "00000106" "90" "2020" "0" "2020" "0" "c.2020G>T" "r.(?)" "p.(Asp674Tyr)" ""
"0000452855" "00000106" "90" "490" "0" "490" "0" "c.490G>T" "r.(?)" "p.(Glu164*)" ""
"0000452856" "00000106" "90" "851" "-33" "851" "-33" "c.851-33T>A" "r.spl" "p.(=)" "7i"
"0000452857" "00000106" "90" "1660" "0" "1660" "0" "c.1660del" "r.(?)" "p.(Arg554Glyfs*104)" ""
"0000452858" "00000106" "90" "1660" "0" "1660" "0" "c.1660del" "r.(?)" "p.(Arg554Glyfs*104)" ""
"0000452859" "00000106" "90" "1660" "0" "1660" "0" "c.1660del" "r.(?)" "p.(Arg554Glyfs*104)" ""
"0000452860" "00000106" "90" "1754" "0" "1754" "0" "c.1754del" "r.(?)" "p.(Leu585Argfs*73)" ""
"0000452861" "00000106" "90" "1660" "0" "1660" "0" "c.1660del" "r.(?)" "p.(Arg554Glyfs*104)" ""
"0000452862" "00000106" "90" "2020" "0" "2020" "0" "c.2020G>T" "r.(?)" "p.(Asp674Tyr)" ""
"0000452863" "00000106" "90" "2328" "0" "2328" "0" "c.2328dup" "r.(?)" "p.(Val777Cysfs*?)" ""
"0000452864" "00000106" "90" "391" "0" "392" "0" "c.391_392del" "r.(?)" "p.(Ser131Leufs*41)" ""
"0000452865" "00000106" "90" "851" "-33" "851" "-33" "c.851-33T>A" "r.spl" "p.(=)" ""
"0000452866" "00000106" "90" "1660" "0" "1660" "0" "c.1660del" "r.(?)" "p.(Arg554Glyfs*104)" ""
"0000452867" "00000106" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602*)" ""
"0000452868" "00000106" "90" "1960" "0" "1960" "0" "c.1960C>T" "r.(?)" "p.(Arg654Cys)" ""
"0000452869" "00000106" "90" "2020" "0" "2020" "0" "c.2020G>T" "r.(?)" "p.(Asp674Tyr)" ""
"0000452870" "00000106" "90" "1960" "0" "1960" "0" "c.1960C>T" "r.(?)" "p.(Arg654Cys)" ""
"0000452871" "00000106" "90" "1660" "0" "1660" "0" "c.1660del" "r.(?)" "p.(Arg554Glyfs*104)" ""
"0000452872" "00000106" "90" "278" "0" "278" "0" "c.278T>C" "r.(?)" "p.(Leu93Pro)" ""
"0000452873" "00000106" "90" "1660" "0" "1660" "0" "c.1660del" "r.(?)" "p.(Arg554Glyfs*104)" ""
"0000452874" "00000106" "90" "851" "-33" "851" "-33" "c.851-33T>A" "r.spl" "p.(=)" ""
"0000452875" "00000106" "90" "2020" "0" "2020" "0" "c.2020G>T" "r.(?)" "p.(Asp674Tyr)" ""
"0000452876" "00000106" "90" "1660" "0" "1660" "0" "c.1660del" "r.(?)" "p.(Arg554Glyfs*104)" ""
"0000452877" "00000106" "90" "851" "-33" "851" "-33" "c.851-33T>A" "r.spl" "p.(=)" ""
"0000452878" "00000106" "90" "1660" "0" "1660" "0" "c.1660del" "r.(?)" "p.(Arg554Glyfs*104)" ""
"0000452879" "00000106" "90" "1660" "0" "1660" "0" "c.1660del" "r.(?)" "p.(Arg554Glyfs*104)" ""
"0000452880" "00000106" "90" "1564" "0" "1564" "0" "c.1564G>A" "r.(?)" "p.(Gly522Arg)" ""
"0000452881" "00000106" "90" "1660" "0" "1660" "0" "c.1660del" "r.(?)" "p.(Arg554Glyfs*104)" ""
"0000452882" "00000106" "90" "1660" "0" "1660" "0" "c.1660del" "r.(?)" "p.(Arg554Glyfs*104)" ""
"0000452883" "00000106" "90" "851" "-33" "851" "-33" "c.851-33T>A" "r.spl" "p.(=)" ""
"0000452884" "00000106" "10" "287" "49" "287" "49" "c.287+49G>T" "r.(=)" "p.(=)" ""
"0000452885" "00000106" "10" "287" "84" "287" "84" "c.287+84G>A" "r.(=)" "p.(=)" ""
"0000452886" "00000106" "10" "574" "100" "574" "100" "c.574+100T>C" "r.(=)" "p.(=)" ""
"0000452887" "00000106" "10" "1633" "-72" "1633" "-72" "c.1633-72C>T" "r.(=)" "p.(=)" ""
"0000452888" "00000106" "10" "1674" "0" "1674" "0" "c.1674G>A" "r.(=)" "p.(=)" ""
"0000452889" "00000106" "10" "1806" "-4" "1806" "-4" "c.1806-4del" "r.(?)" "p.(=)" ""
"0000452890" "00000106" "10" "1887" "0" "1887" "0" "c.1887C>T" "r.(=)" "p.(=)" ""
"0000452891" "00000106" "10" "0" "0" "0" "0" "c.1501+35GT[15]" "r.(=)" "p.(=)" ""
"0000452892" "00000106" "10" "0" "0" "0" "0" "c.1501+35GT[16]" "r.(=)" "p.(=)" ""
"0000452893" "00000106" "10" "0" "0" "0" "0" "c.1501+35GT[17]" "r.(=)" "p.(=)" ""
"0000452894" "00000106" "10" "0" "0" "0" "0" "c.1501+35GT[18]" "r.(=)" "p.(=)" ""
"0000452895" "00000106" "10" "0" "0" "0" "0" "c.1501+35GT[19]" "r.(=)" "p.(=)" ""
"0000452896" "00000106" "10" "0" "0" "0" "0" "c.1501+35GT[20]" "r.(=)" "p.(=)" ""
"0000452902" "00000106" "10" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(His604Tyr)" ""
"0000452903" "00000106" "10" "1928" "0" "1928" "0" "c.1928G>T" "r.(?)" "p.(Gly643Val)" ""
"0000452904" "00000106" "50" "1841" "0" "1841" "0" "c.1841G>T" "r.(?)" "p.(Gly614Val)" ""
"0000452905" "00000106" "10" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(His604Tyr)" ""
"0000452906" "00000106" "10" "1838" "0" "1838" "0" "c.1838G>T" "r.(?)" "p.(Gly613Val)" ""
"0000452907" "00000106" "10" "1674" "0" "1674" "0" "c.1674G>A" "r.(=)" "p.(=)" ""
"0000452908" "00000106" "10" "1887" "0" "1887" "0" "c.1887C>T" "r.(=)" "p.(=)" ""
"0000452909" "00000106" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Gln176*)" ""
"0000452911" "00000106" "90" "391" "0" "392" "0" "c.391_392del" "r.(?)" "p.(Ser131Leufs*41)" ""
"0000452913" "00000106" "90" "1196" "-1" "1196" "-1" "c.1196-1G>A" "r.spl" "p.?" ""
"0000452915" "00000106" "90" "359" "5" "359" "5" "c.359+5G>T" "r.[288_359del,213_359del]" "p.[Thr97_Leu120del,Tyr72_Leu120del]" ""
"0000452916" "00000106" "90" "2281" "0" "2281" "0" "c.2281C>T" "r.(?)" "p.(Arg761Trp)" ""
"0000452917" "00000106" "10" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Gly18Glu)" ""
"0000452918" "00000106" "10" "287" "49" "287" "49" "c.287+49G>T" "r.(?)" "p.(=)" ""
"0000452919" "00000106" "10" "574" "100" "574" "100" "c.574+100T>C" "r.(=)" "p.(=)" ""
"0000452920" "00000106" "10" "1633" "-72" "1633" "-72" "c.1633-72C>T" "r.(=)" "p.(=)" ""
"0000452921" "00000106" "10" "1674" "0" "1674" "0" "c.1674G>A" "r.(=)" "p.(=)" ""
"0000452922" "00000106" "10" "1806" "-4" "1806" "-4" "c.1806-4del" "r.spl?" "p.?" ""
"0000452923" "00000106" "10" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(His604Tyr)" ""
"0000452924" "00000106" "10" "1838" "0" "1838" "0" "c.1838G>T" "r.(?)" "p.(Gly613Val)" ""
"0000452925" "00000106" "10" "1887" "0" "1887" "0" "c.1887C>T" "r.(=)" "p.(=)" ""
"0000452926" "00000106" "10" "287" "144" "287" "144" "c.287+144G>A" "r.(=)" "p.(=)" ""
"0000452927" "00000106" "10" "1632" "74" "1632" "74" "c.1632+74G>C" "r.(=)" "p.(=)" ""
"0000452928" "00000106" "10" "2047" "-16" "2047" "-16" "c.2047-16T>C" "r.(=)" "p.(=)" ""
"0000452929" "00000106" "90" "1633" "-1" "1633" "-1" "c.1633-1G>T" "r.spl" "p.?" ""
"0000452930" "00000106" "90" "1633" "-1" "1633" "-1" "c.1633-1G>T" "r.spl" "p.?" ""
"0000452932" "00000106" "90" "2046" "3" "2046" "3" "c.2046+3A>C" "r.spl" "p.?" ""
"0000452934" "00000106" "90" "354" "0" "359" "3" "c.354_359+3del" "r.spl" "p.?" ""
"0000452936" "00000106" "10" "287" "49" "287" "49" "c.287+49G>T" "r.(=)" "p.(=)" ""
"0000452937" "00000106" "10" "428" "12" "428" "12" "c.428+12C>A" "r.(=)" "p.(=)" "4i"
"0000452938" "00000106" "10" "428" "47" "428" "47" "c.428+47C>T" "r.(=)" "p.(=)" "4i"
"0000452939" "00000106" "10" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Arg161His)" ""
"0000452940" "00000106" "10" "505" "0" "505" "0" "c.505G>A" "r.(?)" "p.(Gly169Arg)" ""
"0000452941" "00000106" "10" "717" "31" "717" "31" "c.717+31A>G" "r.(=)" "p.(=)" "6i"
"0000452942" "00000106" "10" "1354" "28" "1354" "28" "c.1354+28G>A" "r.(=)" "p.(=)" "11i"
"0000452943" "00000106" "10" "1785" "0" "1785" "0" "c.1785G>A" "r.(=)" "p.(=)" ""
"0000452944" "00000106" "10" "1858" "0" "1859" "0" "c.1858_1859delinsTC" "r.(?)" "p.(Gly620Ser)" ""
"0000452945" "00000106" "10" "1674" "0" "1674" "0" "c.1674G>A" "r.(=)" "p.(=)" ""
"0000452946" "00000106" "70" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(His604Tyr)" ""
"0000452947" "00000106" "10" "1887" "0" "1887" "0" "c.1887C>T" "r.(=)" "p.(=)" ""
"0000452948" "00000106" "90" "851" "-33" "851" "-33" "c.851-33T>A" "r.spl" "p.(=)" ""
"0000452950" "00000106" "50" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Gln80Arg)" ""
"0000452952" "00000106" "50" "236" "0" "236" "0" "c.236T>A" "r.(?)" "p.(Leu79Gln)" ""
"0000452953" "00000106" "50" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Arg85His)" ""
"0000452955" "00000106" "50" "265" "0" "265" "0" "c.265G>A" "r.(?)" "p.(Gly89Ser)" ""
"0000452956" "00000106" "50" "271" "0" "271" "0" "c.271G>C" "r.(?)" "p.(Gly91Arg)" ""
"0000452957" "00000106" "50" "326" "0" "326" "0" "c.326A>G" "r.(?)" "p.(Asp109Gly)" ""
"0000452958" "00000106" "50" "865" "0" "865" "0" "c.865C>A" "r.(?)" "p.(Gln289Lys)" ""
"0000452959" "00000106" "50" "940" "0" "940" "0" "c.940C>T" "r.(?)" "p.(Arg314Cys)" ""
"0000452960" "00000106" "50" "1743" "0" "1743" "0" "c.1743G>A" "r.(=)" "p.(=)" ""
"0000452961" "00000106" "50" "824" "0" "824" "0" "c.824A>C" "r.(?)" "p.(Glu275Ala)" ""
"0000452962" "00000106" "50" "570" "0" "570" "0" "c.570C>G" "r.(?)" "p.(Ser190Arg)" ""
"0000452963" "00000106" "50" "1438" "0" "1438" "0" "c.1438G>A" "r.(?)" "p.(Glu480Lys)" ""
"0000452964" "00000106" "50" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Val341Met)" ""
"0000452965" "00000106" "50" "1139" "0" "1139" "0" "c.1139A>G" "r.(?)" "p.(Asp380Gly)" ""
"0000452966" "00000106" "50" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" ""
"0000452967" "00000106" "50" "1465" "0" "1465" "0" "c.1465C>T" "r.(?)" "p.(His489Tyr)" ""
"0000452968" "00000106" "50" "854" "0" "854" "0" "c.854C>T" "r.(?)" "p.(Pro285Leu)" ""
"0000452969" "00000106" "50" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Cys)" ""
"0000452970" "00000106" "50" "1165" "0" "1165" "0" "c.1165dup" "r.(?)" "p.(Asp389Glyfs*13)" ""
"0000452971" "00000106" "50" "1282" "0" "1282" "0" "c.1282G>T" "r.(?)" "p.(Ala428Ser)" ""
"0000452972" "00000106" "50" "1939" "0" "1939" "0" "c.1939G>T" "r.(?)" "p.(Val647Leu)" ""
"0000452973" "00000106" "50" "446" "0" "446" "0" "c.446C>A" "r.(?)" "p.(Pro149His)" ""
"0000452974" "00000106" "50" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Glu492Lys)" ""
"0000452975" "00000106" "50" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Pro788Ser)" ""
"0000452976" "00000106" "50" "2222" "0" "2222" "0" "c.2222C>T" "r.(?)" "p.(Thr741Met)" ""
"0000452977" "00000106" "50" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Asp270Asn)" ""
"0000452978" "00000106" "50" "1320" "0" "1320" "0" "c.1320C>G" "r.(?)" "p.(Asn440Lys)" ""
"0000452979" "00000106" "50" "611" "0" "611" "0" "c.611C>T" "r.(?)" "p.(Ser204Leu)" ""
"0000452980" "00000106" "50" "1843" "0" "1843" "0" "c.1843G>C" "r.(?)" "p.(Glu615Gln)" ""
"0000452981" "00000106" "50" "1741" "0" "1741" "0" "c.1741G>A" "r.(?)" "p.(Glu581Lys)" ""
"0000452982" "00000106" "50" "1037" "0" "1037" "0" "c.1037T>C" "r.(?)" "p.(Leu346Pro)" ""
"0000452983" "00000106" "50" "1342" "0" "1342" "0" "c.1342T>C" "r.(?)" "p.(Phe448Leu)" ""
"0000452984" "00000106" "50" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Arg273Trp)" ""
"0000452985" "00000106" "50" "1309" "0" "1309" "0" "c.1309C>T" "r.(?)" "p.(Leu437Phe)" ""
"0000452986" "00000106" "50" "1354" "0" "1354" "0" "c.1354C>T" "r.(?)" "p.(Arg452Cys)" ""
"0000452987" "00000106" "50" "778" "0" "778" "0" "c.778A>G" "r.(?)" "p.(Arg260Gly)" ""
"0000452988" "00000106" "50" "437" "0" "437" "0" "c.437C>T" "r.(?)" "p.(Ser146Leu)" ""
"0000452989" "00000106" "50" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Glu590Lys)" ""
"0000452990" "00000106" "50" "2056" "0" "2056" "0" "c.2056C>G" "r.(?)" "p.(Arg686Gly)" ""
"0000452991" "00000106" "50" "2277" "0" "2277" "0" "c.2277C>A" "r.(=)" "p.(=)" ""
"0000452992" "00000106" "50" "1814" "0" "1814" "0" "c.1814G>C" "r.(?)" "p.(Gly605Ala)" ""
"0000452993" "00000106" "50" "1891" "0" "1891" "0" "c.1891G>C" "r.(?)" "p.(Ala631Pro)" ""
"0000452994" "00000106" "50" "1697" "0" "1697" "0" "c.1697T>C" "r.(?)" "p.(Met566Thr)" ""
"0000452995" "00000106" "50" "710" "0" "710" "0" "c.710C>T" "r.(?)" "p.(Thr237Met)" ""
"0000452996" "00000106" "50" "2368" "0" "2368" "0" "c.2368G>A" "r.(?)" "p.(Val790Ile)" ""
"0000452997" "00000106" "50" "713" "0" "713" "0" "c.713T>G" "r.(?)" "p.(Val238Gly)" ""
"0000452998" "00000106" "50" "1331" "0" "1331" "0" "c.1331G>A" "r.(?)" "p.(Arg444Gln)" ""
"0000453000" "00000106" "50" "1921" "0" "1921" "0" "c.1921del" "r.(?)" "p.(Leu641Trpfs*17)" ""
"0000453962" "00000106" "10" "1887" "0" "1887" "0" "c.1887C>T" "r.(=)" "p.(=)" ""
"0000453968" "00000106" "90" "2303" "0" "2303" "0" "c.2303C>T" "r.(?)" "p.(Pro768Leu)" ""
"0000453969" "00000106" "90" "207" "0" "208" "0" "c.207_208del" "r.(?)" "p.(Glu70Alafs*16)" ""
"0000453970" "00000106" "90" "207" "0" "208" "0" "c.207_208del" "r.(?)" "p.(Glu70Alafs*16)" ""
"0000453971" "00000106" "90" "574" "1" "574" "1" "c.574+1G>C" "r.420_574del" "p.?" "5i"
"0000453972" "00000106" "90" "2206" "-2" "2206" "-2" "c.2206-2A>G" "r.[2206_2226del,2205_2206ins[2206-336_2206-3;gg]]" "p.[Ala736_Gln742del,?]" "16i"
"0000503818" "00000106" "30" "-45114" "0" "-45114" "0" "c.-45114A>G" "r.(?)" "p.(=)" ""
"0000503819" "00000106" "30" "-14392" "0" "-14392" "0" "c.-14392C>T" "r.(?)" "p.(=)" ""
"0000503820" "00000106" "30" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Gly18Glu)" ""
"0000503821" "00000106" "30" "117" "0" "117" "0" "c.117C>T" "r.(?)" "p.(Ala39=)" ""
"0000503822" "00000106" "30" "212" "10" "212" "10" "c.212+10C>T" "r.(=)" "p.(=)" ""
"0000503823" "00000106" "30" "219" "0" "219" "0" "c.219C>T" "r.(?)" "p.(Ile73=)" ""
"0000503825" "00000106" "90" "287" "2" "287" "2" "c.287+2dup" "r.spl?" "p.?" ""
"0000503826" "00000106" "10" "288" "-8" "288" "-8" "c.288-8C>T" "r.(=)" "p.(=)" ""
"0000503827" "00000106" "50" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Val99Met)" ""
"0000503828" "00000106" "30" "315" "0" "315" "0" "c.315C>T" "r.(?)" "p.(Phe105=)" ""
"0000503829" "00000106" "30" "321" "0" "321" "0" "c.321G>C" "r.(?)" "p.(Ala107=)" ""
"0000503830" "00000106" "50" "360" "-4" "360" "-4" "c.360-4G>A" "r.spl?" "p.?" ""
"0000503831" "00000106" "50" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" ""
"0000503832" "00000106" "30" "574" "7" "574" "7" "c.574+7G>T" "r.(=)" "p.(=)" ""
"0000503833" "00000106" "90" "722" "0" "722" "0" "c.722dup" "r.(?)" "p.(Gly242TrpfsTer16)" ""
"0000503834" "00000106" "30" "865" "0" "865" "0" "c.865C>A" "r.(?)" "p.(Gln289Lys)" ""
"0000503835" "00000106" "50" "953" "0" "953" "0" "c.953A>G" "r.(?)" "p.(Asn318Ser)" ""
"0000503836" "00000106" "50" "1000" "0" "1000" "0" "c.1000G>C" "r.(?)" "p.(Glu334Gln)" ""
"0000503837" "00000106" "30" "1068" "0" "1068" "0" "c.1068C>T" "r.(?)" "p.(Asn356=)" ""
"0000503839" "00000106" "30" "1257" "0" "1257" "0" "c.1257G>A" "r.(?)" "p.(Ser419=)" ""
"0000503840" "00000106" "10" "1331" "0" "1331" "0" "c.1331G>A" "r.(?)" "p.(Arg444Gln)" ""
"0000503842" "00000106" "90" "1525" "0" "1526" "0" "c.1525_1526insGACATCGG" "r.(?)" "p.(Asp509GlyfsTer41)" ""
"0000503843" "00000106" "90" "1555" "0" "1555" "0" "c.1555G>C" "r.(?)" "p.(Gly519Arg)" ""
"0000503844" "00000106" "70" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" ""
"0000503845" "00000106" "90" "1860" "0" "1861" "0" "c.1860_1861insT" "r.(?)" "p.(Pro621SerfsTer12)" ""
"0000503846" "00000106" "50" "1985" "0" "1985" "0" "c.1985T>C" "r.(?)" "p.(Leu662Pro)" ""
"0000503847" "00000106" "10" "2047" "-11" "2047" "-11" "c.2047-11G>A" "r.(=)" "p.(=)" ""
"0000503848" "00000106" "50" "2138" "0" "2138" "0" "c.2138T>C" "r.(?)" "p.(Phe713Ser)" ""
"0000503849" "00000106" "90" "2150" "0" "2150" "0" "c.2150T>G" "r.(?)" "p.(Leu717Arg)" ""
"0000503850" "00000106" "90" "2155" "0" "2155" "0" "c.2155G>A" "r.(?)" "p.(Glu719Lys)" ""
"0000503851" "00000106" "50" "2281" "0" "2281" "0" "c.2281C>T" "r.(?)" "p.(Arg761Trp)" ""
"0000503853" "00000106" "30" "2394" "0" "2394" "0" "c.*3G>A" "r.(=)" "p.(=)" ""
"0000604916" "00000106" "30" "-45081" "0" "-45081" "0" "c.-45081G>T" "r.(?)" "p.(=)" ""
"0000604917" "00000106" "30" "865" "0" "865" "0" "c.865C>A" "r.(?)" "p.(Gln289Lys)" ""
"0000604918" "00000106" "30" "1845" "0" "1845" "0" "c.1845G>A" "r.(?)" "p.(Glu615=)" ""
"0000620411" "00000106" "50" "829" "0" "829" "0" "c.829T>G" "r.(?)" "p.(Ser277Ala)" ""
"0000620412" "00000106" "30" "1332" "0" "1332" "0" "c.1332G>A" "r.(?)" "p.(Arg444=)" ""
"0000624907" "00000106" "90" "1860" "0" "1861" "0" "c.1860_1861insT" "r.(?)" "p.(Pro621SerfsTer12)" ""
"0000647400" "00000106" "50" "940" "0" "940" "0" "c.940C>T" "r.(?)" "p.(Arg314Cys)" ""
"0000647401" "00000106" "30" "1838" "0" "1838" "0" "c.1838G>T" "r.(?)" "p.(Gly613Val)" ""
"0000653784" "00000106" "30" "-8895" "0" "-8895" "0" "c.-8895C>T" "r.(?)" "p.(=)" ""
"0000653785" "00000106" "50" "185" "0" "185" "0" "c.185T>C" "r.(?)" "p.(Leu62Pro)" ""
"0000668965" "00000106" "30" "1838" "0" "1838" "0" "c.1838G>T" "r.(?)" "p.(Gly613Val)" ""
"0000675507" "00000106" "50" "437" "0" "437" "0" "c.437C>T" "r.(?)" "p.(Ser146Leu)" ""
"0000675508" "00000106" "50" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Asp210Asn)" ""
"0000687904" "00000106" "30" "16" "0" "16" "0" "c.16C>T" "r.(?)" "p.(Arg6Trp)" ""
"0000687905" "00000106" "10" "428" "12" "428" "12" "c.428+12C>A" "r.(=)" "p.(=)" ""
"0000716912" "00000106" "50" "-9582" "0" "-9582" "0" "c.-9582G>A" "r.(?)" "p.(=)" ""
"0000716913" "00000106" "30" "279" "0" "279" "0" "c.279G>A" "r.(?)" "p.(Leu93=)" ""
"0000716914" "00000106" "30" "321" "0" "321" "0" "c.321G>T" "r.(?)" "p.(Ala107=)" ""
"0000716915" "00000106" "30" "2398" "0" "2398" "0" "c.*7G>T" "r.(=)" "p.(=)" ""
"0000763388" "00000106" "70" "287" "7" "287" "7" "c.287+7G>T" "r.(?)" "p.(=)" ""
"0000763550" "00000106" "90" "287" "7" "287" "7" "c.287+7G>T" "r.spl" "p.(=)" ""
"0000786972" "00000106" "90" "404" "0" "405" "0" "c.404_405del" "r.(?)" "p.(Val135AlafsTer37)" "4"
"0000786973" "00000106" "70" "" "0" "" "0" "c.?" "r.?" "p.?" "15"
"0000787161" "00000106" "50" "1030" "0" "1030" "0" "c.1030G>C" "r.(?)" "p.(Gly344Arg)" "8"
"0000787509" "00000106" "90" "" "0" "" "0" "c.?" "r.?" "p.?" "13"
"0000787550" "00000106" "50" "" "0" "" "0" "c.?" "r.?" "p.?" "16"
"0000795218" "00000106" "70" "632" "0" "632" "0" "c.632T>A" "r.(?)" "p.(Val211Glu)" ""
"0000795248" "00000106" "70" "851" "-33" "851" "-33" "c.851-33T>A" "r.(?)" "p.(?)" ""
"0000795309" "00000106" "70" "1255" "0" "1256" "0" "c.1255_1256del" "r.(?)" "p.(Ser419Glyfs*80)" ""
"0000795349" "00000106" "70" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" ""
"0000795638" "00000106" "70" "2205" "1" "2205" "1" "c.2205+1G>A" "r.spl" "p.(?)" ""
"0000798849" "00000106" "30" "711" "0" "711" "0" "c.711G>A" "r.(?)" "p.(Thr237=)" ""
"0000798850" "00000106" "10" "1080" "0" "1080" "0" "c.1080G>A" "r.(?)" "p.(Thr360=)" ""
"0000798851" "00000106" "50" "1720" "0" "1720" "0" "c.1720C>T" "r.(?)" "p.(Arg574Cys)" ""
"0000798852" "00000106" "50" "2242" "0" "2242" "0" "c.2242C>T" "r.(?)" "p.(Arg748Trp)" ""
"0000798853" "00000106" "50" "2397" "0" "2397" "0" "c.*6C>T" "r.(=)" "p.(=)" ""
"0000841177" "00000106" "90" "1860" "0" "1861" "0" "c.1860_1861insT" "r.(?)" "p.(Pro621SerfsTer12)" ""
"0000848345" "00000106" "30" "549" "0" "549" "0" "c.549G>T" "r.(?)" "p.(Leu183=)" ""
"0000857077" "00000106" "50" "1741" "0" "1741" "0" "c.1741G>A" "r.(?)" "p.(Glu581Lys)" ""
"0000857078" "00000106" "10" "1860" "0" "1860" "0" "c.1860C>T" "r.(?)" "p.(Gly620=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 207
"{{screeningid}}" "{{variantid}}"
"0000000009" "0000000128"
"0000000026" "0000000127"
"0000000063" "0000000126"
"0000036473" "0000063598"
"0000036474" "0000063599"
"0000036475" "0000063600"
"0000036476" "0000063601"
"0000036477" "0000063602"
"0000036478" "0000063603"
"0000036479" "0000063604"
"0000036480" "0000063605"
"0000036481" "0000063606"
"0000036482" "0000063607"
"0000036483" "0000063608"
"0000036484" "0000063609"
"0000036485" "0000063610"
"0000036486" "0000063611"
"0000036487" "0000063612"
"0000036488" "0000063613"
"0000079749" "0000128524"
"0000079750" "0000128525"
"0000079750" "0000128526"
"0000079751" "0000128527"
"0000079752" "0000128528"
"0000079753" "0000128568"
"0000079786" "0000128569"
"0000079787" "0000128570"
"0000081134" "0000130220"
"0000218237" "0000452741"
"0000218237" "0000452743"
"0000218237" "0000452744"
"0000218237" "0000453962"
"0000218238" "0000452751"
"0000218238" "0000452752"
"0000218239" "0000452753"
"0000218239" "0000452754"
"0000218240" "0000452755"
"0000218241" "0000452757"
"0000218242" "0000452759"
"0000218242" "0000453968"
"0000218243" "0000452760"
"0000218243" "0000452761"
"0000218244" "0000452762"
"0000218245" "0000452764"
"0000218245" "0000452765"
"0000218246" "0000452766"
"0000218247" "0000452768"
"0000218248" "0000452770"
"0000218249" "0000452772"
"0000218251" "0000452775"
"0000218252" "0000452777"
"0000218252" "0000452778"
"0000218252" "0000452779"
"0000218252" "0000452780"
"0000218252" "0000452781"
"0000218254" "0000452783"
"0000218255" "0000452785"
"0000218256" "0000452787"
"0000218257" "0000452788"
"0000218258" "0000452790"
"0000218260" "0000452793"
"0000218261" "0000452794"
"0000218262" "0000452796"
"0000218262" "0000452797"
"0000218262" "0000452798"
"0000218262" "0000452799"
"0000218263" "0000452800"
"0000218263" "0000452801"
"0000218264" "0000452802"
"0000218265" "0000452804"
"0000218266" "0000452806"
"0000218266" "0000452807"
"0000218267" "0000452808"
"0000218267" "0000452809"
"0000218268" "0000452811"
"0000218270" "0000452813"
"0000218271" "0000452814"
"0000218272" "0000452816"
"0000218273" "0000452817"
"0000218273" "0000452818"
"0000218274" "0000452821"
"0000218274" "0000452822"
"0000218274" "0000452823"
"0000218275" "0000452827"
"0000218276" "0000452829"
"0000218277" "0000452830"
"0000218278" "0000452831"
"0000218279" "0000452833"
"0000218280" "0000452834"
"0000218280" "0000452835"
"0000218281" "0000452836"
"0000218283" "0000452838"
"0000218286" "0000452842"
"0000218287" "0000452844"
"0000218288" "0000452845"
"0000218289" "0000452846"
"0000218290" "0000452848"
"0000218291" "0000452849"
"0000218292" "0000452850"
"0000218292" "0000452851"
"0000218293" "0000452852"
"0000218294" "0000452853"
"0000218295" "0000452854"
"0000218295" "0000452855"
"0000218296" "0000452856"
"0000218296" "0000452857"
"0000218297" "0000452858"
"0000218298" "0000452859"
"0000218298" "0000452860"
"0000218299" "0000452861"
"0000218300" "0000452862"
"0000218300" "0000452863"
"0000218301" "0000452864"
"0000218301" "0000452865"
"0000218302" "0000452866"
"0000218302" "0000452867"
"0000218303" "0000452868"
"0000218303" "0000452869"
"0000218304" "0000452870"
"0000218304" "0000452871"
"0000218305" "0000452872"
"0000218305" "0000452873"
"0000218306" "0000452874"
"0000218306" "0000452875"
"0000218307" "0000452876"
"0000218307" "0000452877"
"0000218308" "0000452878"
"0000218309" "0000452879"
"0000218309" "0000452880"
"0000218310" "0000452881"
"0000218311" "0000452882"
"0000218311" "0000452883"
"0000218312" "0000452884"
"0000218313" "0000452885"
"0000218314" "0000452886"
"0000218315" "0000452887"
"0000218316" "0000452888"
"0000218317" "0000452889"
"0000218318" "0000452890"
"0000218319" "0000452891"
"0000218320" "0000452892"
"0000218321" "0000452893"
"0000218322" "0000452894"
"0000218323" "0000452895"
"0000218324" "0000452896"
"0000218327" "0000452902"
"0000218328" "0000452903"
"0000218329" "0000452904"
"0000218330" "0000452905"
"0000218330" "0000452906"
"0000218331" "0000452907"
"0000218332" "0000452908"
"0000218333" "0000452909"
"0000218334" "0000452911"
"0000218335" "0000452913"
"0000218336" "0000452915"
"0000218337" "0000452916"
"0000218338" "0000452917"
"0000218339" "0000452918"
"0000218340" "0000452919"
"0000218341" "0000452920"
"0000218342" "0000452921"
"0000218343" "0000452922"
"0000218344" "0000452923"
"0000218345" "0000452924"
"0000218346" "0000452925"
"0000218347" "0000452926"
"0000218348" "0000452927"
"0000218349" "0000452928"
"0000218350" "0000452929"
"0000218351" "0000452930"
"0000218353" "0000452932"
"0000218354" "0000452934"
"0000218355" "0000452936"
"0000218356" "0000452937"
"0000218357" "0000452938"
"0000218358" "0000452939"
"0000218359" "0000452940"
"0000218360" "0000452941"
"0000218361" "0000452942"
"0000218362" "0000452943"
"0000218363" "0000452944"
"0000218364" "0000452945"
"0000218365" "0000452946"
"0000218366" "0000452947"
"0000218367" "0000452948"
"0000219128" "0000453969"
"0000219129" "0000453970"
"0000219130" "0000453971"
"0000219130" "0000453972"
"0000271059" "0000624907"
"0000290711" "0000647400"
"0000290712" "0000647401"
"0000305277" "0000668965"
"0000362994" "0000763388"
"0000363122" "0000763550"
"0000375621" "0000786972"
"0000375621" "0000787509"
"0000375622" "0000786973"
"0000375810" "0000787161"
"0000375810" "0000787550"
"0000381723" "0000795218"
"0000381723" "0000795309"
"0000381753" "0000795248"
"0000381753" "0000795349"
"0000382004" "0000795638"
"0000405116" "0000841177"