Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.146018119T>ACA420250012HJVc.1239A>T (p.Pro413=)
c.561A>T (p.Pro187=)
c.900A>T (p.Pro300=)
1g.146018119T>CCA420250015HJVc.1239A>G (p.Pro413=)
c.561A>G (p.Pro187=)
c.900A>G (p.Pro300=)
1g.146018119T>GCA420250014HJVc.1239A>C (p.Pro413=)
c.561A>C (p.Pro187=)
c.900A>C (p.Pro300=)
1g.146018120G>ACA342131461HJVc.1238C>T (p.Pro413Leu)
c.560C>T (p.Pro187Leu)
c.899C>T (p.Pro300Leu)
 ClinVar dbSNP
1g.146018120G>CCA342131462HJVc.1238C>G (p.Pro413Arg)
c.560C>G (p.Pro187Arg)
c.899C>G (p.Pro300Arg)
1g.146018120G>TCA342131465HJVc.1238C>A (p.Pro413Gln)
c.560C>A (p.Pro187Gln)
c.899C>A (p.Pro300Gln)
1g.146018121G>ACA1053988HJVc.1237C>T (p.Pro413Ser)
c.559C>T (p.Pro187Ser)
c.898C>T (p.Pro300Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018121G>CCA29822800HJVc.1237C>G (p.Pro413Ala)
c.559C>G (p.Pro187Ala)
c.898C>G (p.Pro300Ala)
1g.146018121G=CA1148212947HJVc.1237C= (p.Pro413=)
c.559C= (p.Pro187=)
c.898C= (p.Pro300=)
1g.146018121G>TCA29822801HJVc.1237C>A (p.Pro413Thr)
c.559C>A (p.Pro187Thr)
c.898C>A (p.Pro300Thr)
1g.146018122A>CCA420250016HJVc.1236T>G (p.Ala412=)
c.558T>G (p.Ala186=)
c.897T>G (p.Ala299=)
1g.146018122A>GCA420250018HJVc.1236T>C (p.Ala412=)
c.558T>C (p.Ala186=)
c.897T>C (p.Ala299=)
1g.146018122A>TCA420250017HJVc.1236T>A (p.Ala412=)
c.558T>A (p.Ala186=)
c.897T>A (p.Ala299=)
1g.146018123G>ACA342131485HJVc.1235C>T (p.Ala412Val)
c.557C>T (p.Ala186Val)
c.896C>T (p.Ala299Val)
 dbSNP gnomAD v2 gnomAD v4
1g.146018123G>CCA342131484HJVc.1235C>G (p.Ala412Gly)
c.557C>G (p.Ala186Gly)
c.896C>G (p.Ala299Gly)
1g.146018123G=CA1198820847HJVc.1235C= (p.Ala412=)
c.557C= (p.Ala186=)
c.896C= (p.Ala299=)
1g.146018123G>TCA342131483HJVc.1235C>A (p.Ala412Asp)
c.557C>A (p.Ala186Asp)
c.896C>A (p.Ala299Asp)
1g.146018124C>ACA29822803HJVc.1234G>T (p.Ala412Ser)
c.556G>T (p.Ala186Ser)
c.895G>T (p.Ala299Ser)
1g.146018124C=CA1198820848HJVc.1234G= (p.Ala412=)
c.556G= (p.Ala186=)
c.895G= (p.Ala299=)
1g.146018124C>GCA1053987HJVc.1234G>C (p.Ala412Pro)
c.556G>C (p.Ala186Pro)
c.895G>C (p.Ala299Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018124C>TCA1053986HJVc.1234G>A (p.Ala412Thr)
c.556G>A (p.Ala186Thr)
c.895G>A (p.Ala299Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018125T>ACA342131487HJVc.1233A>T (p.Leu411Phe)
c.555A>T (p.Leu185Phe)
c.894A>T (p.Leu298Phe)
1g.146018125T>CCA420250023HJVc.1233A>G (p.Leu411=)
c.555A>G (p.Leu185=)
c.894A>G (p.Leu298=)
1g.146018125T>GCA342131493HJVc.1233A>C (p.Leu411Phe)
c.555A>C (p.Leu185Phe)
c.894A>C (p.Leu298Phe)
1g.146018126A>CCA342131510HJVc.1232T>G (p.Leu411Ter)
c.554T>G (p.Leu185Ter)
c.893T>G (p.Leu298Ter)
1g.146018126A>GCA342131520HJVc.1232T>C (p.Leu411Ser)
c.554T>C (p.Leu185Ser)
c.893T>C (p.Leu298Ser)
1g.146018126A>TCA342131523HJVc.1232T>A (p.Leu411Ter)
c.554T>A (p.Leu185Ter)
c.893T>A (p.Leu298Ter)
1g.146018127A>CCA342131527HJVc.1231T>G (p.Leu411Val)
c.553T>G (p.Leu185Val)
c.892T>G (p.Leu298Val)
1g.146018127A>GCA420250025HJVc.1231T>C (p.Leu411=)
c.553T>C (p.Leu185=)
c.892T>C (p.Leu298=)
1g.146018127A>TCA342131539HJVc.1231T>A (p.Leu411Ile)
c.553T>A (p.Leu185Ile)
c.892T>A (p.Leu298Ile)
1g.146018128G>ACA420250028HJVc.1230C>T (p.Leu410=)
c.552C>T (p.Leu184=)
c.891C>T (p.Leu297=)
1g.146018128G>CCA420250030HJVc.1230C>G (p.Leu410=)
c.552C>G (p.Leu184=)
c.891C>G (p.Leu297=)
1g.146018128G>TCA420250029HJVc.1230C>A (p.Leu410=)
c.552C>A (p.Leu184=)
c.891C>A (p.Leu297=)
1g.146018129A=CA1198820849HJVc.1229T= (p.Leu410=)
c.551T= (p.Leu184=)
c.890T= (p.Leu297=)
1g.146018129A>CCA342131544HJVc.1229T>G (p.Leu410Arg)
c.551T>G (p.Leu184Arg)
c.890T>G (p.Leu297Arg)
1g.146018129A>GCA342131558HJVc.1229T>C (p.Leu410Pro)
c.551T>C (p.Leu184Pro)
c.890T>C (p.Leu297Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.146018129A>TCA342131578HJVc.1229T>A (p.Leu410His)
c.551T>A (p.Leu184His)
c.890T>A (p.Leu297His)
 gnomAD v4
1g.146018130G>ACA342131592HJVc.1228C>T (p.Leu410Phe)
c.550C>T (p.Leu184Phe)
c.889C>T (p.Leu297Phe)
1g.146018130G>CCA342131588HJVc.1228C>G (p.Leu410Val)
c.550C>G (p.Leu184Val)
c.889C>G (p.Leu297Val)
1g.146018130G>TCA342131587HJVc.1228C>A (p.Leu410Ile)
c.550C>A (p.Leu184Ile)
c.889C>A (p.Leu297Ile)
1g.146018131G>ACA1053984HJVc.1227C>T (p.Thr409=)
c.549C>T (p.Thr183=)
c.888C>T (p.Thr296=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018131G>CCA29822839HJVc.1227C>G (p.Thr409=)
c.549C>G (p.Thr183=)
c.888C>G (p.Thr296=)
1g.146018131G=CA1198820850HJVc.1227C= (p.Thr409=)
c.549C= (p.Thr183=)
c.888C= (p.Thr296=)
1g.146018131G>TCA1053985HJVc.1227C>A (p.Thr409=)
c.549C>A (p.Thr183=)
c.888C>A (p.Thr296=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018132G>ACA29822849HJVc.1226C>T (p.Thr409Ile)
c.548C>T (p.Thr183Ile)
c.887C>T (p.Thr296Ile)
 dbSNP gnomAD v3 gnomAD v4
1g.146018132G>CCA342131610HJVc.1226C>G (p.Thr409Ser)
c.548C>G (p.Thr183Ser)
c.887C>G (p.Thr296Ser)
1g.146018132G=CA1198820851HJVc.1226C= (p.Thr409=)
c.548C= (p.Thr183=)
c.887C= (p.Thr296=)
1g.146018132G>TCA342131606HJVc.1226C>A (p.Thr409Asn)
c.548C>A (p.Thr183Asn)
c.887C>A (p.Thr296Asn)
1g.146018133T>ACA342131613HJVc.1225A>T (p.Thr409Ser)
c.547A>T (p.Thr183Ser)
c.886A>T (p.Thr296Ser)
1g.146018133T>CCA342131634HJVc.1225A>G (p.Thr409Ala)
c.547A>G (p.Thr183Ala)
c.886A>G (p.Thr296Ala)
1g.146018133T>GCA342131616HJVc.1225A>C (p.Thr409Pro)
c.547A>C (p.Thr183Pro)
c.886A>C (p.Thr296Pro)
1g.146018134T>ACA420250040HJVc.1224A>T (p.Ala408=)
c.546A>T (p.Ala182=)
c.885A>T (p.Ala295=)
1g.146018134T>CCA29822855HJVc.1224A>G (p.Ala408=)
c.546A>G (p.Ala182=)
c.885A>G (p.Ala295=)
 dbSNP
1g.146018134T>GCA420250039HJVc.1224A>C (p.Ala408=)
c.546A>C (p.Ala182=)
c.885A>C (p.Ala295=)
1g.146018134T=CA1198820852HJVc.1224A= (p.Ala408=)
c.546A= (p.Ala182=)
c.885A= (p.Ala295=)
1g.146018135G>ACA1053983HJVc.1223C>T (p.Ala408Val)
c.545C>T (p.Ala182Val)
c.884C>T (p.Ala295Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018135G>CCA29822862HJVc.1223C>G (p.Ala408Gly)
c.545C>G (p.Ala182Gly)
c.884C>G (p.Ala295Gly)
1g.146018135G=CA1143488885HJVc.1223C= (p.Ala408=)
c.545C= (p.Ala182=)
c.884C= (p.Ala295=)
1g.146018135G>TCA29822867HJVc.1223C>A (p.Ala408Glu)
c.545C>A (p.Ala182Glu)
c.884C>A (p.Ala295Glu)
1g.146018136C>ACA342131666HJVc.1222G>T (p.Ala408Ser)
c.544G>T (p.Ala182Ser)
c.883G>T (p.Ala295Ser)
1g.146018136C=CA1198820853HJVc.1222G= (p.Ala408=)
c.544G= (p.Ala182=)
c.883G= (p.Ala295=)
1g.146018136C>GCA342131674HJVc.1222G>C (p.Ala408Pro)
c.544G>C (p.Ala182Pro)
c.883G>C (p.Ala295Pro)
1g.146018136C>TCA342131700HJVc.1222G>A (p.Ala408Thr)
c.544G>A (p.Ala182Thr)
c.883G>A (p.Ala295Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.146018137T>ACA420250048HJVc.1221A>T (p.Ser407=)
c.543A>T (p.Ser181=)
c.882A>T (p.Ser294=)
1g.146018137T>CCA420250043HJVc.1221A>G (p.Ser407=)
c.543A>G (p.Ser181=)
c.882A>G (p.Ser294=)
 gnomAD v4
1g.146018137T>GCA420250049HJVc.1221A>C (p.Ser407=)
c.543A>C (p.Ser181=)
c.882A>C (p.Ser294=)
1g.146018138G>ACA342131709HJVc.1220C>T (p.Ser407Leu)
c.542C>T (p.Ser181Leu)
c.881C>T (p.Ser294Leu)
 gnomAD v4
1g.146018138G>CCA342131722HJVc.1220C>G (p.Ser407Ter)
c.542C>G (p.Ser181Ter)
c.881C>G (p.Ser294Ter)
1g.146018138G>TCA342131727HJVc.1220C>A (p.Ser407Ter)
c.542C>A (p.Ser181Ter)
c.881C>A (p.Ser294Ter)
1g.146018139A>CCA342131739HJVc.1219T>G (p.Ser407Ala)
c.541T>G (p.Ser181Ala)
c.880T>G (p.Ser294Ala)
 gnomAD v4
1g.146018139A>GCA342131751HJVc.1219T>C (p.Ser407Pro)
c.541T>C (p.Ser181Pro)
c.880T>C (p.Ser294Pro)
1g.146018139A>TCA342131763HJVc.1219T>A (p.Ser407Thr)
c.541T>A (p.Ser181Thr)
c.880T>A (p.Ser294Thr)
1g.146018140_146018143delCA915940565HJVc.1216_1219del (p.Ser406GlnfsTer5)
c.538_541del (p.Ser180GlnfsTer5)
c.877_880del (p.Ser293GlnfsTer5)
1g.146018140G>ACA420250054HJVc.1218C>T (p.Ser406=)
c.540C>T (p.Ser180=)
c.879C>T (p.Ser293=)
1g.146018140G>CCA420250056HJVc.1218C>G (p.Ser406=)
c.540C>G (p.Ser180=)
c.879C>G (p.Ser293=)
1g.146018140G>TCA420250055HJVc.1218C>A (p.Ser406=)
c.540C>A (p.Ser180=)
c.879C>A (p.Ser293=)
1g.146018141G>ACA342131776HJVc.1217C>T (p.Ser406Phe)
c.539C>T (p.Ser180Phe)
c.878C>T (p.Ser293Phe)
 COSMIC
1g.146018141G>CCA342131794HJVc.1217C>G (p.Ser406Cys)
c.539C>G (p.Ser180Cys)
c.878C>G (p.Ser293Cys)
1g.146018141G>TCA342131784HJVc.1217C>A (p.Ser406Tyr)
c.539C>A (p.Ser180Tyr)
c.878C>A (p.Ser293Tyr)
1g.146018142A>CCA342131800HJVc.1216T>G (p.Ser406Ala)
c.538T>G (p.Ser180Ala)
c.877T>G (p.Ser293Ala)
1g.146018142A>GCA342131801HJVc.1216T>C (p.Ser406Pro)
c.538T>C (p.Ser180Pro)
c.877T>C (p.Ser293Pro)
1g.146018142A>TCA342131802HJVc.1216T>A (p.Ser406Thr)
c.538T>A (p.Ser180Thr)
c.877T>A (p.Ser293Thr)
1g.146018143A>CCA420250061HJVc.1215T>G (p.Leu405=)
c.537T>G (p.Leu179=)
c.876T>G (p.Leu292=)
1g.146018143A>GCA420250063HJVc.1215T>C (p.Leu405=)
c.537T>C (p.Leu179=)
c.876T>C (p.Leu292=)
1g.146018143A>TCA420250062HJVc.1215T>A (p.Leu405=)
c.537T>A (p.Leu179=)
c.876T>A (p.Leu292=)
1g.146018144A=CA1198820854HJVc.1214T= (p.Leu405=)
c.536T= (p.Leu179=)
c.875T= (p.Leu292=)
1g.146018144A>CCA29822871HJVc.1214T>G (p.Leu405Arg)
c.536T>G (p.Leu179Arg)
c.875T>G (p.Leu292Arg)
1g.146018144A>GCA1053982HJVc.1214T>C (p.Leu405Pro)
c.536T>C (p.Leu179Pro)
c.875T>C (p.Leu292Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018144A>TCA29822876HJVc.1214T>A (p.Leu405His)
c.536T>A (p.Leu179His)
c.875T>A (p.Leu292His)
 gnomAD v4
1g.146018145G>ACA342131806HJVc.1213C>T (p.Leu405Phe)
c.535C>T (p.Leu179Phe)
c.874C>T (p.Leu292Phe)
1g.146018145G>CCA342131807HJVc.1213C>G (p.Leu405Val)
c.535C>G (p.Leu179Val)
c.874C>G (p.Leu292Val)
1g.146018145G>TCA342131813HJVc.1213C>A (p.Leu405Ile)
c.535C>A (p.Leu179Ile)
c.874C>A (p.Leu292Ile)
1g.146018146A>CCA420250068HJVc.1212T>G (p.Pro404=)
c.534T>G (p.Pro178=)
c.873T>G (p.Pro291=)
 gnomAD v4
1g.146018146A>GCA420250069HJVc.1212T>C (p.Pro404=)
c.534T>C (p.Pro178=)
c.873T>C (p.Pro291=)
1g.146018146A>TCA420250067HJVc.1212T>A (p.Pro404=)
c.534T>A (p.Pro178=)
c.873T>A (p.Pro291=)
1g.146018147G>ACA342131821HJVc.1211C>T (p.Pro404Leu)
c.533C>T (p.Pro178Leu)
c.872C>T (p.Pro291Leu)
1g.146018147G>CCA342131817HJVc.1211C>G (p.Pro404Arg)
c.533C>G (p.Pro178Arg)
c.872C>G (p.Pro291Arg)
1g.146018147G>TCA342131814HJVc.1211C>A (p.Pro404His)
c.533C>A (p.Pro178His)
c.872C>A (p.Pro291His)
1g.146018148G>ACA342131828HJVc.1210C>T (p.Pro404Ser)
c.532C>T (p.Pro178Ser)
c.871C>T (p.Pro291Ser)
 gnomAD v4
1g.146018148G>CCA342131832HJVc.1210C>G (p.Pro404Ala)
c.532C>G (p.Pro178Ala)
c.871C>G (p.Pro291Ala)
1g.146018148G>TCA342131834HJVc.1210C>A (p.Pro404Thr)
c.532C>A (p.Pro178Thr)
c.871C>A (p.Pro291Thr)
1g.146018149A>CCA420250074HJVc.1209T>G (p.Val403=)
c.531T>G (p.Val177=)
c.870T>G (p.Val290=)
1g.146018149A>GCA420250072HJVc.1209T>C (p.Val403=)
c.531T>C (p.Val177=)
c.870T>C (p.Val290=)
 gnomAD v4
1g.146018149A>TCA420250073HJVc.1209T>A (p.Val403=)
c.531T>A (p.Val177=)
c.870T>A (p.Val290=)
1g.146018150A>CCA342131850HJVc.1208T>G (p.Val403Gly)
c.530T>G (p.Val177Gly)
c.869T>G (p.Val290Gly)
1g.146018150A>GCA342131855HJVc.1208T>C (p.Val403Ala)
c.530T>C (p.Val177Ala)
c.869T>C (p.Val290Ala)
 gnomAD v4 COSMIC
1g.146018150A>TCA342131859HJVc.1208T>A (p.Val403Asp)
c.530T>A (p.Val177Asp)
c.869T>A (p.Val290Asp)
1g.146018151C>ACA29822887HJVc.1207G>T (p.Val403Phe)
c.529G>T (p.Val177Phe)
c.868G>T (p.Val290Phe)
1g.146018151C=CA1143423674HJVc.1207G= (p.Val403=)
c.529G= (p.Val177=)
c.868G= (p.Val290=)
1g.146018151C>GCA29822892HJVc.1207G>C (p.Val403Leu)
c.529G>C (p.Val177Leu)
c.868G>C (p.Val290Leu)
 dbSNP
1g.146018151C>TCA1053981HJVc.1207G>A (p.Val403Ile)
c.529G>A (p.Val177Ile)
c.868G>A (p.Val290Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018152C>ACA420250077HJVc.1206G>T (p.Gly402=)
c.528G>T (p.Gly176=)
c.867G>T (p.Gly289=)
 ClinVar dbSNP gnomAD v4
1g.146018152C=CA1198820855HJVc.1206G= (p.Gly402=)
c.528G= (p.Gly176=)
c.867G= (p.Gly289=)
1g.146018152C>GCA420250078HJVc.1206G>C (p.Gly402=)
c.528G>C (p.Gly176=)
c.867G>C (p.Gly289=)
1g.146018152C>TCA420250076HJVc.1206G>A (p.Gly402=)
c.528G>A (p.Gly176=)
c.867G>A (p.Gly289=)
 ClinVar dbSNP
1g.146018153C>ACA342131882HJVc.1205G>T (p.Gly402Val)
c.527G>T (p.Gly176Val)
c.866G>T (p.Gly289Val)
1g.146018153C>GCA342131887HJVc.1205G>C (p.Gly402Ala)
c.527G>C (p.Gly176Ala)
c.866G>C (p.Gly289Ala)
1g.146018153C>TCA342131889HJVc.1205G>A (p.Gly402Glu)
c.527G>A (p.Gly176Glu)
c.866G>A (p.Gly289Glu)
1g.146018154C>ACA342131903HJVc.1204G>T (p.Gly402Trp)
c.526G>T (p.Gly176Trp)
c.865G>T (p.Gly289Trp)
1g.146018154C=CA1198820856HJVc.1204G= (p.Gly402=)
c.526G= (p.Gly176=)
c.865G= (p.Gly289=)
1g.146018154C>GCA342131896HJVc.1204G>C (p.Gly402Arg)
c.526G>C (p.Gly176Arg)
c.865G>C (p.Gly289Arg)
1g.146018154C>TCA342131900HJVc.1204G>A (p.Gly402Arg)
c.526G>A (p.Gly176Arg)
c.865G>A (p.Gly289Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018155A>CCA420250084HJVc.1203T>G (p.Ala401=)
c.525T>G (p.Ala175=)
c.864T>G (p.Ala288=)
1g.146018155A>GCA420250083HJVc.1203T>C (p.Ala401=)
c.525T>C (p.Ala175=)
c.864T>C (p.Ala288=)
1g.146018155A>TCA420250085HJVc.1203T>A (p.Ala401=)
c.525T>A (p.Ala175=)
c.864T>A (p.Ala288=)
1g.146018156G>ACA342131908HJVc.1202C>T (p.Ala401Val)
c.524C>T (p.Ala175Val)
c.863C>T (p.Ala288Val)
1g.146018156G>CCA342131910HJVc.1202C>G (p.Ala401Gly)
c.524C>G (p.Ala175Gly)
c.863C>G (p.Ala288Gly)
1g.146018156G>TCA342131912HJVc.1202C>A (p.Ala401Asp)
c.524C>A (p.Ala175Asp)
c.863C>A (p.Ala288Asp)
1g.146018157C>ACA342131928HJVc.1201G>T (p.Ala401Ser)
c.523G>T (p.Ala175Ser)
c.862G>T (p.Ala288Ser)
1g.146018157C>GCA342131930HJVc.1201G>C (p.Ala401Pro)
c.523G>C (p.Ala175Pro)
c.862G>C (p.Ala288Pro)
1g.146018157C>TCA342131936HJVc.1201G>A (p.Ala401Thr)
c.523G>A (p.Ala175Thr)
c.862G>A (p.Ala288Thr)
 gnomAD v4
1g.146018158A>CCA342131943HJVc.1200T>G (p.Asp400Glu)
c.522T>G (p.Asp174Glu)
c.861T>G (p.Asp287Glu)
1g.146018158A>GCA420250091HJVc.1200T>C (p.Asp400=)
c.522T>C (p.Asp174=)
c.861T>C (p.Asp287=)
1g.146018158A>TCA342131944HJVc.1200T>A (p.Asp400Glu)
c.522T>A (p.Asp174Glu)
c.861T>A (p.Asp287Glu)
1g.146018159T>ACA342131947HJVc.1199A>T (p.Asp400Val)
c.521A>T (p.Asp174Val)
c.860A>T (p.Asp287Val)
1g.146018159T>CCA342131957HJVc.1199A>G (p.Asp400Gly)
c.521A>G (p.Asp174Gly)
c.860A>G (p.Asp287Gly)
 gnomAD v4
1g.146018159T>GCA342131963HJVc.1199A>C (p.Asp400Ala)
c.521A>C (p.Asp174Ala)
c.860A>C (p.Asp287Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.146018159T=CA1198820857HJVc.1199A= (p.Asp400=)
c.521A= (p.Asp174=)
c.860A= (p.Asp287=)
1g.146018160C>ACA342131972HJVc.1198G>T (p.Asp400Tyr)
c.520G>T (p.Asp174Tyr)
c.859G>T (p.Asp287Tyr)
 dbSNP gnomAD v2 gnomAD v4
1g.146018160C=CA1198820858HJVc.1198G= (p.Asp400=)
c.520G= (p.Asp174=)
c.859G= (p.Asp287=)
1g.146018160C>GCA342131975HJVc.1198G>C (p.Asp400His)
c.520G>C (p.Asp174His)
c.859G>C (p.Asp287His)
1g.146018160C>TCA342131969HJVc.1198G>A (p.Asp400Asn)
c.520G>A (p.Asp174Asn)
c.859G>A (p.Asp287Asn)
1g.146018161T>ACA420250095HJVc.1197A>T (p.Ser399=)
c.519A>T (p.Ser173=)
c.858A>T (p.Ser286=)
1g.146018161T>CCA420250093HJVc.1197A>G (p.Ser399=)
c.519A>G (p.Ser173=)
c.858A>G (p.Ser286=)
 ClinVar dbSNP gnomAD v4
1g.146018161T>GCA420250096HJVc.1197A>C (p.Ser399=)
c.519A>C (p.Ser173=)
c.858A>C (p.Ser286=)
 gnomAD v4
1g.146018161T=CA1198820859HJVc.1197A= (p.Ser399=)
c.519A= (p.Ser173=)
c.858A= (p.Ser286=)
1g.146018162G>ACA342131979HJVc.1196C>T (p.Ser399Leu)
c.518C>T (p.Ser173Leu)
c.857C>T (p.Ser286Leu)
 dbSNP
1g.146018162G>CCA342131981HJVc.1196C>G (p.Ser399Ter)
c.518C>G (p.Ser173Ter)
c.857C>G (p.Ser286Ter)
 dbSNP
1g.146018162G>TCA342131983HJVc.1196C>A (p.Ser399Ter)
c.518C>A (p.Ser173Ter)
c.857C>A (p.Ser286Ter)
1g.146018163A>CCA342131986HJVc.1195T>G (p.Ser399Ala)
c.517T>G (p.Ser173Ala)
c.856T>G (p.Ser286Ala)
1g.146018163A>GCA342131988HJVc.1195T>C (p.Ser399Pro)
c.517T>C (p.Ser173Pro)
c.856T>C (p.Ser286Pro)
1g.146018163A>TCA342131992HJVc.1195T>A (p.Ser399Thr)
c.517T>A (p.Ser173Thr)
c.856T>A (p.Ser286Thr)
1g.146018164G>ACA420250099HJVc.1194C>T (p.Pro398=)
c.516C>T (p.Pro172=)
c.855C>T (p.Pro285=)
 dbSNP gnomAD v3 gnomAD v4
1g.146018164G>CCA29822901HJVc.1194C>G (p.Pro398=)
c.516C>G (p.Pro172=)
c.855C>G (p.Pro285=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.146018164G=CA1198820860HJVc.1194C= (p.Pro398=)
c.516C= (p.Pro172=)
c.855C= (p.Pro285=)
1g.146018164G>TCA420250100HJVc.1194C>A (p.Pro398=)
c.516C>A (p.Pro172=)
c.855C>A (p.Pro285=)
1g.146018165G>ACA342132001HJVc.1193C>T (p.Pro398Leu)
c.515C>T (p.Pro172Leu)
c.854C>T (p.Pro285Leu)
1g.146018165G>CCA342132007HJVc.1193C>G (p.Pro398Arg)
c.515C>G (p.Pro172Arg)
c.854C>G (p.Pro285Arg)
1g.146018165G>TCA342132008HJVc.1193C>A (p.Pro398His)
c.515C>A (p.Pro172His)
c.854C>A (p.Pro285His)
1g.146018166G>ACA342132020HJVc.1192C>T (p.Pro398Ser)
c.514C>T (p.Pro172Ser)
c.853C>T (p.Pro285Ser)
 COSMIC
1g.146018166G>CCA342132023HJVc.1192C>G (p.Pro398Ala)
c.514C>G (p.Pro172Ala)
c.853C>G (p.Pro285Ala)
1g.146018166G>TCA342132035HJVc.1192C>A (p.Pro398Thr)
c.514C>A (p.Pro172Thr)
c.853C>A (p.Pro285Thr)
1g.146018167G>ACA1053980HJVc.1191C>T (p.Phe397=)
c.513C>T (p.Phe171=)
c.852C>T (p.Phe284=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018167G>CCA29822906HJVc.1191C>G (p.Phe397Leu)
c.513C>G (p.Phe171Leu)
c.852C>G (p.Phe284Leu)
1g.146018167G=CA1198820861HJVc.1191C= (p.Phe397=)
c.513C= (p.Phe171=)
c.852C= (p.Phe284=)
1g.146018167G>TCA29822912HJVc.1191C>A (p.Phe397Leu)
c.513C>A (p.Phe171Leu)
c.852C>A (p.Phe284Leu)
1g.146018168A>CCA342132042HJVc.1190T>G (p.Phe397Cys)
c.512T>G (p.Phe171Cys)
c.851T>G (p.Phe284Cys)
1g.146018168A>GCA342132047HJVc.1190T>C (p.Phe397Ser)
c.512T>C (p.Phe171Ser)
c.851T>C (p.Phe284Ser)
1g.146018168A>TCA342132051HJVc.1190T>A (p.Phe397Tyr)
c.512T>A (p.Phe171Tyr)
c.851T>A (p.Phe284Tyr)
1g.146018169A>CCA342132053HJVc.1189T>G (p.Phe397Val)
c.511T>G (p.Phe171Val)
c.850T>G (p.Phe284Val)
1g.146018169A>GCA342132056HJVc.1189T>C (p.Phe397Leu)
c.511T>C (p.Phe171Leu)
c.850T>C (p.Phe284Leu)
1g.146018169A>TCA342132058HJVc.1189T>A (p.Phe397Ile)
c.511T>A (p.Phe171Ile)
c.850T>A (p.Phe284Ile)
1g.146018170G>ACA420250106HJVc.1188C>T (p.Leu396=)
c.510C>T (p.Leu170=)
c.849C>T (p.Leu283=)
1g.146018170G>CCA420250105HJVc.1188C>G (p.Leu396=)
c.510C>G (p.Leu170=)
c.849C>G (p.Leu283=)
 ClinVar dbSNP gnomAD v2
1g.146018170G=CA1198820862HJVc.1188C= (p.Leu396=)
c.510C= (p.Leu170=)
c.849C= (p.Leu283=)
1g.146018170G>TCA420250104HJVc.1188C>A (p.Leu396=)
c.510C>A (p.Leu170=)
c.849C>A (p.Leu283=)
1g.146018171A>CCA342132068HJVc.1187T>G (p.Leu396Arg)
c.509T>G (p.Leu170Arg)
c.848T>G (p.Leu283Arg)
1g.146018171A>GCA342132063HJVc.1187T>C (p.Leu396Pro)
c.509T>C (p.Leu170Pro)
c.848T>C (p.Leu283Pro)
1g.146018171A>TCA342132067HJVc.1187T>A (p.Leu396His)
c.509T>A (p.Leu170His)
c.848T>A (p.Leu283His)
1g.146018172G>ACA342132069HJVc.1186C>T (p.Leu396Phe)
c.508C>T (p.Leu170Phe)
c.847C>T (p.Leu283Phe)
 COSMIC
1g.146018172G>CCA342132071HJVc.1186C>G (p.Leu396Val)
c.508C>G (p.Leu170Val)
c.847C>G (p.Leu283Val)
1g.146018172G=CA1198820863HJVc.1186C= (p.Leu396=)
c.508C= (p.Leu170=)
c.847C= (p.Leu283=)
1g.146018172G>TCA342132074HJVc.1186C>A (p.Leu396Ile)
c.508C>A (p.Leu170Ile)
c.847C>A (p.Leu283Ile)
1g.146018172_146018173insTTCA888578428HJVc.1185_1186insAA (p.Leu396AsnfsTer17)
c.507_508insAA (p.Leu170AsnfsTer17)
c.846_847insAA (p.Leu283AsnfsTer17)
 dbSNP gnomAD v3 gnomAD v4
1g.146018173A>CCA342132079HJVc.1185T>G (p.His395Gln)
c.507T>G (p.His169Gln)
c.846T>G (p.His282Gln)
1g.146018173A>GCA420250110HJVc.1185T>C (p.His395=)
c.507T>C (p.His169=)
c.846T>C (p.His282=)
1g.146018173A>TCA342132081HJVc.1185T>A (p.His395Gln)
c.507T>A (p.His169Gln)
c.846T>A (p.His282Gln)
1g.146018174T>ACA29822913HJVc.1184A>T (p.His395Leu)
c.506A>T (p.His169Leu)
c.845A>T (p.His282Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.146018174T>CCA1053979HJVc.1184A>G (p.His395Arg)
c.506A>G (p.His169Arg)
c.845A>G (p.His282Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018174T>GCA29822914HJVc.1184A>C (p.His395Pro)
c.506A>C (p.His169Pro)
c.845A>C (p.His282Pro)
1g.146018174T=CA1198820864HJVc.1184A= (p.His395=)
c.506A= (p.His169=)
c.845A= (p.His282=)
1g.146018174_146018175delinsTGCA1198820865HJVc.1183_1184delinsCA (p.His395=)
c.505_506delinsCA (p.His169=)
c.844_845delinsCA (p.His282=)
1g.146018175delCA1053977HJVc.1183del (p.His395IlefsTer17)
c.505del (p.His169IlefsTer17)
c.844del (p.His282IlefsTer17)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018175G>ACA342132097HJVc.1183C>T (p.His395Tyr)
c.505C>T (p.His169Tyr)
c.844C>T (p.His282Tyr)
 gnomAD v4
1g.146018175G>CCA342132103HJVc.1183C>G (p.His395Asp)
c.505C>G (p.His169Asp)
c.844C>G (p.His282Asp)
1g.146018175G=CA1198820866HJVc.1183C= (p.His395=)
c.505C= (p.His169=)
c.844C= (p.His282=)
1g.146018175G>TCA342132109HJVc.1183C>A (p.His395Asn)
c.505C>A (p.His169Asn)
c.844C>A (p.His282Asn)
 dbSNP
1g.146018176C>ACA29822915HJVc.1182G>T (p.Leu394=)
c.504G>T (p.Leu168=)
c.843G>T (p.Leu281=)
1g.146018176C=CA1198820867HJVc.1182G= (p.Leu394=)
c.504G= (p.Leu168=)
c.843G= (p.Leu281=)
1g.146018176C>GCA29822936HJVc.1182G>C (p.Leu394=)
c.504G>C (p.Leu168=)
c.843G>C (p.Leu281=)
1g.146018176C>TCA1053978HJVc.1182G>A (p.Leu394=)
c.504G>A (p.Leu168=)
c.843G>A (p.Leu281=)
 ClinVar dbSNP ExAC gnomAD v4
1g.146018177A=CA1198820868HJVc.1181T= (p.Leu394=)
c.503T= (p.Leu168=)
c.842T= (p.Leu281=)
1g.146018177A>CCA29822942HJVc.1181T>G (p.Leu394Arg)
c.503T>G (p.Leu168Arg)
c.842T>G (p.Leu281Arg)
1g.146018177A>GCA1053976HJVc.1181T>C (p.Leu394Pro)
c.503T>C (p.Leu168Pro)
c.842T>C (p.Leu281Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018177A>TCA29822949HJVc.1181T>A (p.Leu394Gln)
c.503T>A (p.Leu168Gln)
c.842T>A (p.Leu281Gln)
 dbSNP gnomAD v4
1g.146018178G>ACA420250115HJVc.1180C>T (p.Leu394=)
c.502C>T (p.Leu168=)
c.841C>T (p.Leu281=)
1g.146018178G>CCA1053975HJVc.1180C>G (p.Leu394Val)
c.502C>G (p.Leu168Val)
c.841C>G (p.Leu281Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018178G=CA1198820869HJVc.1180C= (p.Leu394=)
c.502C= (p.Leu168=)
c.841C= (p.Leu281=)
1g.146018178G>TCA342132121HJVc.1180C>A (p.Leu394Met)
c.502C>A (p.Leu168Met)
c.841C>A (p.Leu281Met)
1g.146018179C>ACA342132125HJVc.1179G>T (p.Lys393Asn)
c.501G>T (p.Lys167Asn)
c.840G>T (p.Lys280Asn)
1g.146018179C>GCA342132128HJVc.1179G>C (p.Lys393Asn)
c.501G>C (p.Lys167Asn)
c.840G>C (p.Lys280Asn)
1g.146018179C>TCA420250116HJVc.1179G>A (p.Lys393=)
c.501G>A (p.Lys167=)
c.840G>A (p.Lys280=)
1g.146018180T>ACA29822974HJVc.1178A>T (p.Lys393Met)
c.500A>T (p.Lys167Met)
c.839A>T (p.Lys280Met)
1g.146018180T>CCA1053974HJVc.1178A>G (p.Lys393Arg)
c.500A>G (p.Lys167Arg)
c.839A>G (p.Lys280Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018180T>GCA29822994HJVc.1178A>C (p.Lys393Thr)
c.500A>C (p.Lys167Thr)
c.839A>C (p.Lys280Thr)
1g.146018180T=CA1198820870HJVc.1178A= (p.Lys393=)
c.500A= (p.Lys167=)
c.839A= (p.Lys280=)
1g.146018180_146018181delCA2647575222HJVc.1177_1178del (p.Lys393AlafsTer?)
c.499_500del (p.Lys167AlafsTer?)
c.838_839del (p.Lys280AlafsTer?)
 gnomAD v4
1g.146018181T>ACA342132144HJVc.1177A>T (p.Lys393Ter)
c.499A>T (p.Lys167Ter)
c.838A>T (p.Lys280Ter)
1g.146018181T>CCA342132145HJVc.1177A>G (p.Lys393Glu)
c.499A>G (p.Lys167Glu)
c.838A>G (p.Lys280Glu)
1g.146018181T>GCA342132146HJVc.1177A>C (p.Lys393Gln)
c.499A>C (p.Lys167Gln)
c.838A>C (p.Lys280Gln)
1g.146018182C>ACA342132147HJVc.1176G>T (p.Glu392Asp)
c.498G>T (p.Glu166Asp)
c.837G>T (p.Glu279Asp)
1g.146018182C>GCA342132149HJVc.1176G>C (p.Glu392Asp)
c.498G>C (p.Glu166Asp)
c.837G>C (p.Glu279Asp)
1g.146018182C>TCA420250120HJVc.1176G>A (p.Glu392=)
c.498G>A (p.Glu166=)
c.837G>A (p.Glu279=)
 ClinVar dbSNP
1g.146018183T>ACA342132155HJVc.1175A>T (p.Glu392Val)
c.497A>T (p.Glu166Val)
c.836A>T (p.Glu279Val)
1g.146018183T>CCA342132161HJVc.1175A>G (p.Glu392Gly)
c.497A>G (p.Glu166Gly)
c.836A>G (p.Glu279Gly)
 gnomAD v4
1g.146018183T>GCA342132163HJVc.1175A>C (p.Glu392Ala)
c.497A>C (p.Glu166Ala)
c.836A>C (p.Glu279Ala)
1g.146018183_146018185delCA2647575225HJVc.1173_1175del (p.Glu392del)
c.495_497del (p.Glu166del)
c.834_836del (p.Glu279del)
 gnomAD v4
1g.146018184C>ACA342132168HJVc.1174G>T (p.Glu392Ter)
c.496G>T (p.Glu166Ter)
c.835G>T (p.Glu279Ter)
1g.146018184C=CA1198820871HJVc.1174G= (p.Glu392=)
c.496G= (p.Glu166=)
c.835G= (p.Glu279=)
1g.146018184C>GCA342132177HJVc.1174G>C (p.Glu392Gln)
c.496G>C (p.Glu166Gln)
c.835G>C (p.Glu279Gln)
1g.146018184C>TCA342132178HJVc.1174G>A (p.Glu392Lys)
c.496G>A (p.Glu166Lys)
c.835G>A (p.Glu279Lys)
 dbSNP
1g.146018185T>ACA342132180HJVc.1173A>T (p.Leu391Phe)
c.495A>T (p.Leu165Phe)
c.834A>T (p.Leu278Phe)
1g.146018185T>CCA420250123HJVc.1173A>G (p.Leu391=)
c.495A>G (p.Leu165=)
c.834A>G (p.Leu278=)
 gnomAD v4
1g.146018185T>GCA342132182HJVc.1173A>C (p.Leu391Phe)
c.495A>C (p.Leu165Phe)
c.834A>C (p.Leu278Phe)
1g.146018186A>CCA342132187HJVc.1172T>G (p.Leu391Ter)
c.494T>G (p.Leu165Ter)
c.833T>G (p.Leu278Ter)
1g.146018186A>GCA342132191HJVc.1172T>C (p.Leu391Ser)
c.494T>C (p.Leu165Ser)
c.833T>C (p.Leu278Ser)
 gnomAD v4
1g.146018186A>TCA342132185HJVc.1172T>A (p.Leu391Ter)
c.494T>A (p.Leu165Ter)
c.833T>A (p.Leu278Ter)
1g.146018187A>CCA342132203HJVc.1171T>G (p.Leu391Val)
c.493T>G (p.Leu165Val)
c.832T>G (p.Leu278Val)
 gnomAD v4
1g.146018187A>GCA420250125HJVc.1171T>C (p.Leu391=)
c.493T>C (p.Leu165=)
c.832T>C (p.Leu278=)
1g.146018187A>TCA342132201HJVc.1171T>A (p.Leu391Ile)
c.493T>A (p.Leu165Ile)
c.832T>A (p.Leu278Ile)
1g.146018188G>ACA420250128HJVc.1170C>T (p.Asp390=)
c.492C>T (p.Asp164=)
c.831C>T (p.Asp277=)
1g.146018188G>CCA342132208HJVc.1170C>G (p.Asp390Glu)
c.492C>G (p.Asp164Glu)
c.831C>G (p.Asp277Glu)
 dbSNP gnomAD v3 gnomAD v4
1g.146018188G=CA1198820872HJVc.1170C= (p.Asp390=)
c.492C= (p.Asp164=)
c.831C= (p.Asp277=)
1g.146018188G>TCA342132211HJVc.1170C>A (p.Asp390Glu)
c.492C>A (p.Asp164Glu)
c.831C>A (p.Asp277Glu)
1g.146018189T>ACA342132212HJVc.1169A>T (p.Asp390Val)
c.491A>T (p.Asp164Val)
c.830A>T (p.Asp277Val)
 gnomAD v4
1g.146018189T>CCA342132214HJVc.1169A>G (p.Asp390Gly)
c.491A>G (p.Asp164Gly)
c.830A>G (p.Asp277Gly)
 dbSNP
1g.146018189T>GCA342132226HJVc.1169A>C (p.Asp390Ala)
c.491A>C (p.Asp164Ala)
c.830A>C (p.Asp277Ala)
1g.146018190C>ACA342132230HJVc.1168G>T (p.Asp390Tyr)
c.490G>T (p.Asp164Tyr)
c.829G>T (p.Asp277Tyr)
1g.146018190C>GCA342132237HJVc.1168G>C (p.Asp390His)
c.490G>C (p.Asp164His)
c.829G>C (p.Asp277His)
1g.146018190C>TCA342132248HJVc.1168G>A (p.Asp390Asn)
c.490G>A (p.Asp164Asn)
c.829G>A (p.Asp277Asn)
1g.146018191T>ACA420250132HJVc.1167A>T (p.Pro389=)
c.489A>T (p.Pro163=)
c.828A>T (p.Pro276=)
1g.146018191T>CCA420250130HJVc.1167A>G (p.Pro389=)
c.489A>G (p.Pro163=)
c.828A>G (p.Pro276=)
1g.146018191T>GCA420250131HJVc.1167A>C (p.Pro389=)
c.489A>C (p.Pro163=)
c.828A>C (p.Pro276=)
1g.146018192G>ACA342132254HJVc.1166C>T (p.Pro389Leu)
c.488C>T (p.Pro163Leu)
c.827C>T (p.Pro276Leu)
1g.146018192G>CCA342132263HJVc.1166C>G (p.Pro389Arg)
c.488C>G (p.Pro163Arg)
c.827C>G (p.Pro276Arg)
1g.146018192G>TCA342132266HJVc.1166C>A (p.Pro389Gln)
c.488C>A (p.Pro163Gln)
c.827C>A (p.Pro276Gln)
1g.146018192_146018197delCA2647575226HJVc.1161_1166del (p.Phe387_Pro389delinsLeu)
c.483_488del (p.Phe161_Pro163delinsLeu)
c.822_827del (p.Phe274_Pro276delinsLeu)
 gnomAD v4
1g.146018193G>ACA342132270HJVc.1165C>T (p.Pro389Ser)
c.487C>T (p.Pro163Ser)
c.826C>T (p.Pro276Ser)
 gnomAD v4
1g.146018193G>CCA342132268HJVc.1165C>G (p.Pro389Ala)
c.487C>G (p.Pro163Ala)
c.826C>G (p.Pro276Ala)
1g.146018193G>TCA342132267HJVc.1165C>A (p.Pro389Thr)
c.487C>A (p.Pro163Thr)
c.826C>A (p.Pro276Thr)
1g.146018194C>ACA420250138HJVc.1164G>T (p.Leu388=)
c.486G>T (p.Leu162=)
c.825G>T (p.Leu275=)
1g.146018194C=CA1198820873HJVc.1164G= (p.Leu388=)
c.486G= (p.Leu162=)
c.825G= (p.Leu275=)
1g.146018194C>GCA420250139HJVc.1164G>C (p.Leu388=)
c.486G>C (p.Leu162=)
c.825G>C (p.Leu275=)
1g.146018194C>TCA420250137HJVc.1164G>A (p.Leu388=)
c.486G>A (p.Leu162=)
c.825G>A (p.Leu275=)
 ClinVar dbSNP
1g.146018195A>CCA342132273HJVc.1163T>G (p.Leu388Arg)
c.485T>G (p.Leu162Arg)
c.824T>G (p.Leu275Arg)
1g.146018195A>GCA342132281HJVc.1163T>C (p.Leu388Pro)
c.485T>C (p.Leu162Pro)
c.824T>C (p.Leu275Pro)
1g.146018195A>TCA342132290HJVc.1163T>A (p.Leu388Gln)
c.485T>A (p.Leu162Gln)
c.824T>A (p.Leu275Gln)
1g.146018196G>ACA420250143HJVc.1162C>T (p.Leu388=)
c.484C>T (p.Leu162=)
c.823C>T (p.Leu275=)
 ClinVar dbSNP gnomAD v4
1g.146018196G>CCA342132292HJVc.1162C>G (p.Leu388Val)
c.484C>G (p.Leu162Val)
c.823C>G (p.Leu275Val)
 dbSNP
1g.146018196G=CA1198820874HJVc.1162C= (p.Leu388=)
c.484C= (p.Leu162=)
c.823C= (p.Leu275=)
1g.146018196G>TCA342132294HJVc.1162C>A (p.Leu388Met)
c.484C>A (p.Leu162Met)
c.823C>A (p.Leu275Met)
1g.146018197G>ACA420250144HJVc.1161C>T (p.Phe387=)
c.483C>T (p.Phe161=)
c.822C>T (p.Phe274=)
 gnomAD v4
1g.146018197G>CCA342132296HJVc.1161C>G (p.Phe387Leu)
c.483C>G (p.Phe161Leu)
c.822C>G (p.Phe274Leu)
1g.146018197G>TCA342132298HJVc.1161C>A (p.Phe387Leu)
c.483C>A (p.Phe161Leu)
c.822C>A (p.Phe274Leu)
1g.146018198A=CA1198820875HJVc.1160T= (p.Phe387=)
c.482T= (p.Phe161=)
c.821T= (p.Phe274=)
1g.146018198A>CCA29823010HJVc.1160T>G (p.Phe387Cys)
c.482T>G (p.Phe161Cys)
c.821T>G (p.Phe274Cys)
1g.146018198A>GCA1053973HJVc.1160T>C (p.Phe387Ser)
c.482T>C (p.Phe161Ser)
c.821T>C (p.Phe274Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018198A>TCA29823014HJVc.1160T>A (p.Phe387Tyr)
c.482T>A (p.Phe161Tyr)
c.821T>A (p.Phe274Tyr)
1g.146018199A=CA1198820876HJVc.1159T= (p.Phe387=)
c.481T= (p.Phe161=)
c.820T= (p.Phe274=)
1g.146018199A>CCA342132312HJVc.1159T>G (p.Phe387Val)
c.481T>G (p.Phe161Val)
c.820T>G (p.Phe274Val)
 dbSNP gnomAD v2 gnomAD v4
1g.146018199A>GCA342132315HJVc.1159T>C (p.Phe387Leu)
c.481T>C (p.Phe161Leu)
c.820T>C (p.Phe274Leu)
1g.146018199A>TCA342132328HJVc.1159T>A (p.Phe387Ile)
c.481T>A (p.Phe161Ile)
c.820T>A (p.Phe274Ile)
1g.146018200G>ACA420250150HJVc.1158C>T (p.Ala386=)
c.480C>T (p.Ala160=)
c.819C>T (p.Ala273=)
1g.146018200G>CCA420250148HJVc.1158C>G (p.Ala386=)
c.480C>G (p.Ala160=)
c.819C>G (p.Ala273=)
1g.146018200G>TCA420250151HJVc.1158C>A (p.Ala386=)
c.480C>A (p.Ala160=)
c.819C>A (p.Ala273=)
1g.146018201G>ACA342132344HJVc.1157C>T (p.Ala386Val)
c.479C>T (p.Ala160Val)
c.818C>T (p.Ala273Val)
1g.146018201G>CCA342132339HJVc.1157C>G (p.Ala386Gly)
c.479C>G (p.Ala160Gly)
c.818C>G (p.Ala273Gly)
1g.146018201G>TCA342132333HJVc.1157C>A (p.Ala386Asp)
c.479C>A (p.Ala160Asp)
c.818C>A (p.Ala273Asp)
1g.146018202C>ACA342132379HJVc.1156G>T (p.Ala386Ser)
c.478G>T (p.Ala160Ser)
c.817G>T (p.Ala273Ser)
1g.146018202C=CA1198820877HJVc.1156G= (p.Ala386=)
c.478G= (p.Ala160=)
c.817G= (p.Ala273=)
1g.146018202C>GCA342132362HJVc.1156G>C (p.Ala386Pro)
c.478G>C (p.Ala160Pro)
c.817G>C (p.Ala273Pro)
1g.146018202C>TCA342132375HJVc.1156G>A (p.Ala386Thr)
c.478G>A (p.Ala160Thr)
c.817G>A (p.Ala273Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.146018203T>ACA420250154HJVc.1155A>T (p.Arg385=)
c.477A>T (p.Arg159=)
c.816A>T (p.Arg272=)
1g.146018203T>CCA420250153HJVc.1155A>G (p.Arg385=)
c.477A>G (p.Arg159=)
c.816A>G (p.Arg272=)
1g.146018203T>GCA420250155HJVc.1155A>C (p.Arg385=)
c.477A>C (p.Arg159=)
c.816A>C (p.Arg272=)
 dbSNP gnomAD v4
1g.146018203T=CA1198820878HJVc.1155A= (p.Arg385=)
c.477A= (p.Arg159=)
c.816A= (p.Arg272=)
1g.146018204C>ACA342132381HJVc.1154G>T (p.Arg385Leu)
c.476G>T (p.Arg159Leu)
c.815G>T (p.Arg272Leu)
1g.146018204C=CA1144106349HJVc.1154G= (p.Arg385=)
c.476G= (p.Arg159=)
c.815G= (p.Arg272=)
1g.146018204C>GCA342132383HJVc.1154G>C (p.Arg385Pro)
c.476G>C (p.Arg159Pro)
c.815G>C (p.Arg272Pro)
 gnomAD v4
1g.146018204C>TCA1053972HJVc.1154G>A (p.Arg385Gln)
c.476G>A (p.Arg159Gln)
c.815G>A (p.Arg272Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018205G>ACA1053970HJVc.1153C>T (p.Arg385Ter)
c.475C>T (p.Arg159Ter)
c.814C>T (p.Arg272Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018205G>CCA1053971HJVc.1153C>G (p.Arg385Gly)
c.475C>G (p.Arg159Gly)
c.814C>G (p.Arg272Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018205G=CA1198820879HJVc.1153C= (p.Arg385=)
c.475C= (p.Arg159=)
c.814C= (p.Arg272=)
1g.146018205G>TCA1053969HJVc.1153C>A (p.Arg385=)
c.475C>A (p.Arg159=)
c.814C>A (p.Arg272=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018206G>ACA1053968HJVc.1152C>T (p.Ala384=)
c.474C>T (p.Ala158=)
c.813C>T (p.Ala271=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018206G>CCA29823028HJVc.1152C>G (p.Ala384=)
c.474C>G (p.Ala158=)
c.813C>G (p.Ala271=)
1g.146018206G=CA1198820880HJVc.1152C= (p.Ala384=)
c.474C= (p.Ala158=)
c.813C= (p.Ala271=)
1g.146018206G>TCA29823037HJVc.1152C>A (p.Ala384=)
c.474C>A (p.Ala158=)
c.813C>A (p.Ala271=)
1g.146018207G>ACA342132394HJVc.1151C>T (p.Ala384Val)
c.473C>T (p.Ala158Val)
c.812C>T (p.Ala271Val)
 dbSNP gnomAD v4
1g.146018207G>CCA342132397HJVc.1151C>G (p.Ala384Gly)
c.473C>G (p.Ala158Gly)
c.812C>G (p.Ala271Gly)
1g.146018207G=CA1198820881HJVc.1151C= (p.Ala384=)
c.473C= (p.Ala158=)
c.812C= (p.Ala271=)
1g.146018207G>TCA342132399HJVc.1151C>A (p.Ala384Asp)
c.473C>A (p.Ala158Asp)
c.812C>A (p.Ala271Asp)
1g.146018208C>ACA342132407HJVc.1150G>T (p.Ala384Ser)
c.472G>T (p.Ala158Ser)
c.811G>T (p.Ala271Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.146018208C=CA1198820882HJVc.1150G= (p.Ala384=)
c.472G= (p.Ala158=)
c.811G= (p.Ala271=)
1g.146018208C>GCA342132401HJVc.1150G>C (p.Ala384Pro)
c.472G>C (p.Ala158Pro)
c.811G>C (p.Ala271Pro)
1g.146018208C>TCA342132404HJVc.1150G>A (p.Ala384Thr)
c.472G>A (p.Ala158Thr)
c.811G>A (p.Ala271Thr)
1g.146018209A=CA1198820883HJVc.1149T= (p.Asp383=)
c.471T= (p.Asp157=)
c.810T= (p.Asp270=)
1g.146018209A>CCA342132413HJVc.1149T>G (p.Asp383Glu)
c.471T>G (p.Asp157Glu)
c.810T>G (p.Asp270Glu)
1g.146018209A>GCA29823044HJVc.1149T>C (p.Asp383=)
c.471T>C (p.Asp157=)
c.810T>C (p.Asp270=)
 ClinVar dbSNP COSMIC
1g.146018209A>TCA342132414HJVc.1149T>A (p.Asp383Glu)
c.471T>A (p.Asp157Glu)
c.810T>A (p.Asp270Glu)
1g.146018210T>ACA342132417HJVc.1148A>T (p.Asp383Val)
c.470A>T (p.Asp157Val)
c.809A>T (p.Asp270Val)
1g.146018210T>CCA342132422HJVc.1148A>G (p.Asp383Gly)
c.470A>G (p.Asp157Gly)
c.809A>G (p.Asp270Gly)
1g.146018210T>GCA342132426HJVc.1148A>C (p.Asp383Ala)
c.470A>C (p.Asp157Ala)
c.809A>C (p.Asp270Ala)
1g.146018211C>ACA342132432HJVc.1147G>T (p.Asp383Tyr)
c.469G>T (p.Asp157Tyr)
c.808G>T (p.Asp270Tyr)
1g.146018211C>GCA342132434HJVc.1147G>C (p.Asp383His)
c.469G>C (p.Asp157His)
c.808G>C (p.Asp270His)
1g.146018211C>TCA342132435HJVc.1147G>A (p.Asp383Asn)
c.469G>A (p.Asp157Asn)
c.808G>A (p.Asp270Asn)
1g.146018212C>ACA342132436HJVc.1146G>T (p.Glu382Asp)
c.468G>T (p.Glu156Asp)
c.807G>T (p.Glu269Asp)
1g.146018212C>GCA342132437HJVc.1146G>C (p.Glu382Asp)
c.468G>C (p.Glu156Asp)
c.807G>C (p.Glu269Asp)
1g.146018212C>TCA420250160HJVc.1146G>A (p.Glu382=)
c.468G>A (p.Glu156=)
c.807G>A (p.Glu269=)
1g.146018213T>ACA29823056HJVc.1145A>T (p.Glu382Val)
c.467A>T (p.Glu156Val)
c.806A>T (p.Glu269Val)
1g.146018213T>CCA29823067HJVc.1145A>G (p.Glu382Gly)
c.467A>G (p.Glu156Gly)
c.806A>G (p.Glu269Gly)
1g.146018213T>GCA1053967HJVc.1145A>C (p.Glu382Ala)
c.467A>C (p.Glu156Ala)
c.806A>C (p.Glu269Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018213T=CA1142042613HJVc.1145A= (p.Glu382=)
c.467A= (p.Glu156=)
c.806A= (p.Glu269=)
1g.146018214C>ACA342132461HJVc.1144G>T (p.Glu382Ter)
c.466G>T (p.Glu156Ter)
c.805G>T (p.Glu269Ter)
1g.146018214C=CA1198820884HJVc.1144G= (p.Glu382=)
c.466G= (p.Glu156=)
c.805G= (p.Glu269=)
1g.146018214C>GCA342132463HJVc.1144G>C (p.Glu382Gln)
c.466G>C (p.Glu156Gln)
c.805G>C (p.Glu269Gln)
 dbSNP gnomAD v3 gnomAD v4
1g.146018214C>TCA342132456HJVc.1144G>A (p.Glu382Lys)
c.466G>A (p.Glu156Lys)
c.805G>A (p.Glu269Lys)
 dbSNP gnomAD v4
1g.146018215C>ACA420250162HJVc.1143G>T (p.Leu381=)
c.465G>T (p.Leu155=)
c.804G>T (p.Leu268=)
1g.146018215C>GCA420250161HJVc.1143G>C (p.Leu381=)
c.465G>C (p.Leu155=)
c.804G>C (p.Leu268=)
1g.146018215C>TCA420250163HJVc.1143G>A (p.Leu381=)
c.465G>A (p.Leu155=)
c.804G>A (p.Leu268=)
 ClinVar gnomAD v4
1g.146018216A>CCA342132474HJVc.1142T>G (p.Leu381Arg)
c.464T>G (p.Leu155Arg)
c.803T>G (p.Leu268Arg)
 ClinVar gnomAD v4
1g.146018216A>GCA342132487HJVc.1142T>C (p.Leu381Pro)
c.464T>C (p.Leu155Pro)
c.803T>C (p.Leu268Pro)
1g.146018216A>TCA342132484HJVc.1142T>A (p.Leu381Gln)
c.464T>A (p.Leu155Gln)
c.803T>A (p.Leu268Gln)
1g.146018217G>ACA420250164HJVc.1141C>T (p.Leu381=)
c.463C>T (p.Leu155=)
c.802C>T (p.Leu268=)
1g.146018217G>CCA342132491HJVc.1141C>G (p.Leu381Val)
c.463C>G (p.Leu155Val)
c.802C>G (p.Leu268Val)
 dbSNP
1g.146018217G=CA1198820885HJVc.1141C= (p.Leu381=)
c.463C= (p.Leu155=)
c.802C= (p.Leu268=)
1g.146018217G>TCA342132495HJVc.1141C>A (p.Leu381Met)
c.463C>A (p.Leu155Met)
c.802C>A (p.Leu268Met)
 ClinVar dbSNP
1g.146018218T>ACA420250166HJVc.1140A>T (p.Ala380=)
c.462A>T (p.Ala154=)
c.801A>T (p.Ala267=)
1g.146018218T>CCA420250167HJVc.1140A>G (p.Ala380=)
c.462A>G (p.Ala154=)
c.801A>G (p.Ala267=)
1g.146018218T>GCA420250165HJVc.1140A>C (p.Ala380=)
c.462A>C (p.Ala154=)
c.801A>C (p.Ala267=)
1g.146018219G>ACA342132501HJVc.1139C>T (p.Ala380Val)
c.461C>T (p.Ala154Val)
c.800C>T (p.Ala267Val)
1g.146018219G>CCA342132510HJVc.1139C>G (p.Ala380Gly)
c.461C>G (p.Ala154Gly)
c.800C>G (p.Ala267Gly)
1g.146018219G>TCA342132512HJVc.1139C>A (p.Ala380Glu)
c.461C>A (p.Ala154Glu)
c.800C>A (p.Ala267Glu)

Number of alleles fetched