Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.52029773_52029776delCA2586973772SGCBc.334_337del (p.Gln112TyrfsTer6)
c.417_420del
c.411_414del (n.411_414del)
c.37_40del (p.Gln13TyrfsTer6)
c.124_127del (p.Gln42TyrfsTer6)
4g.52029772T>ACA356877312SGCBc.335A>T (p.Gln112Leu)
c.418A>T
c.412A>T (n.412A>T)
c.38A>T (p.Gln13Leu)
c.125A>T (p.Gln42Leu)
4g.52029772T>CCA356877313SGCBc.335A>G (p.Gln112Arg)
c.418A>G
c.412A>G (n.412A>G)
c.38A>G (p.Gln13Arg)
c.125A>G (p.Gln42Arg)
4g.52029772T>GCA356877314SGCBc.335A>C (p.Gln112Pro)
c.418A>C
c.412A>C (n.412A>C)
c.38A>C (p.Gln13Pro)
c.125A>C (p.Gln42Pro)
4g.52029773G>ACA356877315SGCBc.334C>T (p.Gln112Ter)
c.417C>T
c.411C>T (n.411C>T)
c.37C>T (p.Gln13Ter)
c.124C>T (p.Gln42Ter)
 ClinVar dbSNP
4g.52029773G>CCA356877316SGCBc.334C>G (p.Gln112Glu)
c.417C>G
c.411C>G (n.411C>G)
c.37C>G (p.Gln13Glu)
c.124C>G (p.Gln42Glu)
4g.52029773G=CA1457429991SGCBc.334C= (p.Gln112=)
c.417C=
c.411C= (n.411C=)
c.37C= (p.Gln13=)
c.124C= (p.Gln42=)
4g.52029773G>TCA356877317SGCBc.334C>A (p.Gln112Lys)
c.417C>A
c.411C>A (n.411C>A)
c.37C>A (p.Gln13Lys)
c.124C>A (p.Gln42Lys)
4g.52029774C>ACA356877319SGCBc.333G>T (p.Lys111Asn)
c.416G>T
c.410G>T (n.410G>T)
c.36G>T (p.Lys12Asn)
c.123G>T (p.Lys41Asn)
4g.52029774C=CA1457429992SGCBc.333G= (p.Lys111=)
c.416G=
c.410G= (n.410G=)
c.36G= (p.Lys12=)
c.123G= (p.Lys41=)
4g.52029774C>GCA356877318SGCBc.333G>C (p.Lys111Asn)
c.416G>C
c.410G>C (n.410G>C)
c.36G>C (p.Lys12Asn)
c.123G>C (p.Lys41Asn)
4g.52029774C>TCA439274340SGCBc.333G>A (p.Lys111=)
c.416G>A
c.410G>A (n.410G>A)
c.36G>A (p.Lys12=)
c.123G>A (p.Lys41=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.52029775T>ACA356877320SGCBc.332A>T (p.Lys111Met)
c.415A>T
c.409A>T (n.409A>T)
c.35A>T (p.Lys12Met)
c.122A>T (p.Lys41Met)
4g.52029775T>CCA356877321SGCBc.332A>G (p.Lys111Arg)
c.415A>G
c.409A>G (n.409A>G)
c.35A>G (p.Lys12Arg)
c.122A>G (p.Lys41Arg)
4g.52029775T>GCA356877322SGCBc.332A>C (p.Lys111Thr)
c.415A>C
c.409A>C (n.409A>C)
c.35A>C (p.Lys12Thr)
c.122A>C (p.Lys41Thr)
4g.52029776T>ACA356877323SGCBc.331A>T (p.Lys111Ter)
c.414A>T
c.408A>T (n.408A>T)
c.34A>T (p.Lys12Ter)
c.121A>T (p.Lys41Ter)
4g.52029776T>CCA356877324SGCBc.331A>G (p.Lys111Glu)
c.414A>G
c.408A>G (n.408A>G)
c.34A>G (p.Lys12Glu)
c.121A>G (p.Lys41Glu)
4g.52029776T>GCA356877325SGCBc.331A>C (p.Lys111Gln)
c.414A>C
c.408A>C (n.408A>C)
c.34A>C (p.Lys12Gln)
c.121A>C (p.Lys41Gln)
4g.52029777A>CCA356877326SGCBc.330T>G (p.Phe110Leu)
c.413T>G
c.407T>G (n.407T>G)
c.33T>G (p.Phe11Leu)
c.120T>G (p.Phe40Leu)
4g.52029777A>GCA439274342SGCBc.330T>C (p.Phe110=)
c.413T>C
c.407T>C (n.407T>C)
c.33T>C (p.Phe11=)
c.120T>C (p.Phe40=)
4g.52029777A>TCA356877327SGCBc.330T>A (p.Phe110Leu)
c.413T>A
c.407T>A (n.407T>A)
c.33T>A (p.Phe11Leu)
c.120T>A (p.Phe40Leu)
4g.52029778A>CCA356877328SGCBc.329T>G (p.Phe110Cys)
c.412T>G
c.406T>G (n.406T>G)
c.32T>G (p.Phe11Cys)
c.119T>G (p.Phe40Cys)
4g.52029778A>GCA356877329SGCBc.329T>C (p.Phe110Ser)
c.412T>C
c.406T>C (n.406T>C)
c.32T>C (p.Phe11Ser)
c.119T>C (p.Phe40Ser)
4g.52029778A>TCA356877330SGCBc.329T>A (p.Phe110Tyr)
c.412T>A
c.406T>A (n.406T>A)
c.32T>A (p.Phe11Tyr)
c.119T>A (p.Phe40Tyr)
4g.52029779A>CCA356877333SGCBc.328T>G (p.Phe110Val)
c.411T>G
c.405T>G (n.405T>G)
c.31T>G (p.Phe11Val)
c.118T>G (p.Phe40Val)
4g.52029779A>GCA356877332SGCBc.328T>C (p.Phe110Leu)
c.411T>C
c.405T>C (n.405T>C)
c.31T>C (p.Phe11Leu)
c.118T>C (p.Phe40Leu)
4g.52029779A>TCA356877331SGCBc.328T>A (p.Phe110Ile)
c.411T>A
c.405T>A (n.405T>A)
c.31T>A (p.Phe11Ile)
c.118T>A (p.Phe40Ile)
4g.52029780T>ACA439274348SGCBc.327A>T (p.Arg109=)
c.410A>T
c.404A>T (n.404A>T)
c.30A>T (p.Arg10=)
c.117A>T (p.Arg39=)
4g.52029780T>CCA2918435SGCBc.327A>G (p.Arg109=)
c.410A>G
c.404A>G (n.404A>G)
c.30A>G (p.Arg10=)
c.117A>G (p.Arg39=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029780T>GCA439274350SGCBc.327A>C (p.Arg109=)
c.410A>C
c.404A>C (n.404A>C)
c.30A>C (p.Arg10=)
c.117A>C (p.Arg39=)
4g.52029780T=CA1457429993SGCBc.327A= (p.Arg109=)
c.410A=
c.404A= (n.404A=)
c.30A= (p.Arg10=)
c.117A= (p.Arg39=)
4g.52029781C>ACA356877334SGCBc.326G>T (p.Arg109Leu)
c.409G>T
c.403G>T (n.403G>T)
c.29G>T (p.Arg10Leu)
c.116G>T (p.Arg39Leu)
 gnomAD v4
4g.52029781C=CA1457429994SGCBc.326G= (p.Arg109=)
c.409G=
c.403G= (n.403G=)
c.29G= (p.Arg10=)
c.116G= (p.Arg39=)
4g.52029781C>GCA356877335SGCBc.326G>C (p.Arg109Pro)
c.409G>C
c.403G>C (n.403G>C)
c.29G>C (p.Arg10Pro)
c.116G>C (p.Arg39Pro)
 dbSNP gnomAD v4
4g.52029781C>TCA356877336SGCBc.326G>A (p.Arg109Gln)
c.409G>A
c.403G>A (n.403G>A)
c.29G>A (p.Arg10Gln)
c.116G>A (p.Arg39Gln)
 gnomAD v4 COSMIC
4g.52029782G>ACA2918436SGCBc.325C>T (p.Arg109Ter)
c.408C>T
c.402C>T (n.402C>T)
c.28C>T (p.Arg10Ter)
c.115C>T (p.Arg39Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.52029782G>CCA2918437SGCBc.325C>G (p.Arg109Gly)
c.408C>G
c.402C>G (n.402C>G)
c.28C>G (p.Arg10Gly)
c.115C>G (p.Arg39Gly)
 dbSNP ExAC gnomAD v4
4g.52029782G=CA1457429995SGCBc.325C= (p.Arg109=)
c.408C=
c.402C= (n.402C=)
c.28C= (p.Arg10=)
c.115C= (p.Arg39=)
4g.52029782G>TCA439274354SGCBc.325C>A (p.Arg109=)
c.408C>A
c.402C>A (n.402C>A)
c.28C>A (p.Arg10=)
c.115C>A (p.Arg39=)
4g.52029783A=CA1457429996SGCBc.324T= (p.Leu108=)
c.407T=
c.401T= (n.401T=)
c.27T= (p.Leu9=)
c.114T= (p.Leu38=)
4g.52029783A>CCA439274355SGCBc.324T>G (p.Leu108=)
c.407T>G
c.401T>G (n.401T>G)
c.27T>G (p.Leu9=)
c.114T>G (p.Leu38=)
4g.52029783A>GCA2918438SGCBc.324T>C (p.Leu108=)
c.407T>C
c.401T>C (n.401T>C)
c.27T>C (p.Leu9=)
c.114T>C (p.Leu38=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029783A>TCA439274356SGCBc.324T>A (p.Leu108=)
c.407T>A
c.401T>A (n.401T>A)
c.27T>A (p.Leu9=)
c.114T>A (p.Leu38=)
4g.52029784A=CA1457429997SGCBc.323T= (p.Leu108=)
c.406T=
c.400T= (n.400T=)
c.26T= (p.Leu9=)
c.113T= (p.Leu38=)
4g.52029784A>CCA119856SGCBc.323T>G (p.Leu108Arg)
c.406T>G
c.400T>G (n.400T>G)
c.26T>G (p.Leu9Arg)
c.113T>G (p.Leu38Arg)
 ClinVar dbSNP
4g.52029784A>GCA356877337SGCBc.323T>C (p.Leu108Pro)
c.406T>C
c.400T>C (n.400T>C)
c.26T>C (p.Leu9Pro)
c.113T>C (p.Leu38Pro)
4g.52029784A>TCA356877338SGCBc.323T>A (p.Leu108His)
c.406T>A
c.400T>A (n.400T>A)
c.26T>A (p.Leu9His)
c.113T>A (p.Leu38His)
4g.52029785G>ACA356877339SGCBc.322C>T (p.Leu108Phe)
c.405C>T
c.399C>T (n.399C>T)
c.25C>T (p.Leu9Phe)
c.112C>T (p.Leu38Phe)
4g.52029785G>CCA356877340SGCBc.322C>G (p.Leu108Val)
c.405C>G
c.399C>G (n.399C>G)
c.25C>G (p.Leu9Val)
c.112C>G (p.Leu38Val)
4g.52029785G>TCA356877341SGCBc.322C>A (p.Leu108Ile)
c.405C>A
c.399C>A (n.399C>A)
c.25C>A (p.Leu9Ile)
c.112C>A (p.Leu38Ile)
4g.52029786C>ACA439274360SGCBc.321G>T (p.Leu107=)
c.404G>T
c.398G>T (n.398G>T)
c.24G>T (p.Leu8=)
c.111G>T (p.Leu37=)
4g.52029786C>GCA439274361SGCBc.321G>C (p.Leu107=)
c.404G>C
c.398G>C (n.398G>C)
c.24G>C (p.Leu8=)
c.111G>C (p.Leu37=)
4g.52029786C>TCA439274363SGCBc.321G>A (p.Leu107=)
c.404G>A
c.398G>A (n.398G>A)
c.24G>A (p.Leu8=)
c.111G>A (p.Leu37=)
4g.52029787A>CCA356877343SGCBc.320T>G (p.Leu107Arg)
c.403T>G
c.397T>G (n.397T>G)
c.23T>G (p.Leu8Arg)
c.110T>G (p.Leu37Arg)
4g.52029787A>GCA356877344SGCBc.320T>C (p.Leu107Pro)
c.403T>C
c.397T>C (n.397T>C)
c.23T>C (p.Leu8Pro)
c.110T>C (p.Leu37Pro)
4g.52029787A>TCA356877342SGCBc.320T>A (p.Leu107Gln)
c.403T>A
c.397T>A (n.397T>A)
c.23T>A (p.Leu8Gln)
c.110T>A (p.Leu37Gln)
4g.52029788G>ACA439274365SGCBc.319C>T (p.Leu107=)
c.402C>T
c.396C>T (n.396C>T)
c.22C>T (p.Leu8=)
c.109C>T (p.Leu37=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.52029788G>CCA356877345SGCBc.319C>G (p.Leu107Val)
c.402C>G
c.396C>G (n.396C>G)
c.22C>G (p.Leu8Val)
c.109C>G (p.Leu37Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52029788G=CA1457429998SGCBc.319C= (p.Leu107=)
c.402C=
c.396C= (n.396C=)
c.22C= (p.Leu8=)
c.109C= (p.Leu37=)
4g.52029788G>TCA356877346SGCBc.319C>A (p.Leu107Met)
c.402C>A
c.396C>A (n.396C>A)
c.22C>A (p.Leu8Met)
c.109C>A (p.Leu37Met)
4g.52029789G>ACA439274368SGCBc.318C>T (p.Gly106=)
c.401C>T
c.395C>T (n.395C>T)
c.21C>T (p.Gly7=)
c.108C>T (p.Gly36=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.52029789G>CCA439274367SGCBc.318C>G (p.Gly106=)
c.401C>G
c.395C>G (n.395C>G)
c.21C>G (p.Gly7=)
c.108C>G (p.Gly36=)
 ClinVar dbSNP
4g.52029789G=CA1457429999SGCBc.318C= (p.Gly106=)
c.401C=
c.395C= (n.395C=)
c.21C= (p.Gly7=)
c.108C= (p.Gly36=)
4g.52029789G>TCA439274366SGCBc.318C>A (p.Gly106=)
c.401C>A
c.395C>A (n.395C>A)
c.21C>A (p.Gly7=)
c.108C>A (p.Gly36=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52029790C>ACA356877347SGCBc.317G>T (p.Gly106Val)
c.400G>T
c.394G>T (n.394G>T)
c.20G>T (p.Gly7Val)
c.107G>T (p.Gly36Val)
4g.52029790C>GCA356877348SGCBc.317G>C (p.Gly106Ala)
c.400G>C
c.394G>C (n.394G>C)
c.20G>C (p.Gly7Ala)
c.107G>C (p.Gly36Ala)
4g.52029790C>TCA356877349SGCBc.317G>A (p.Gly106Asp)
c.400G>A
c.394G>A (n.394G>A)
c.20G>A (p.Gly7Asp)
c.107G>A (p.Gly36Asp)
4g.52029791C>ACA356877352SGCBc.316G>T (p.Gly106Cys)
c.399G>T
c.393G>T (n.393G>T)
c.19G>T (p.Gly7Cys)
c.106G>T (p.Gly36Cys)
4g.52029791C>GCA356877350SGCBc.316G>C (p.Gly106Arg)
c.399G>C
c.393G>C (n.393G>C)
c.19G>C (p.Gly7Arg)
c.106G>C (p.Gly36Arg)
4g.52029791C>TCA356877351SGCBc.316G>A (p.Gly106Ser)
c.399G>A
c.393G>A (n.393G>A)
c.19G>A (p.Gly7Ser)
c.106G>A (p.Gly36Ser)
4g.52029792A>CCA356877353SGCBc.315T>G (p.Ser105Arg)
c.398T>G
c.392T>G (n.392T>G)
c.18T>G (p.Ser6Arg)
c.105T>G (p.Ser35Arg)
4g.52029792A>GCA439274375SGCBc.315T>C (p.Ser105=)
c.398T>C
c.392T>C (n.392T>C)
c.18T>C (p.Ser6=)
c.105T>C (p.Ser35=)
 ClinVar dbSNP gnomAD v4
4g.52029792A>TCA356877354SGCBc.315T>A (p.Ser105Arg)
c.398T>A
c.392T>A (n.392T>A)
c.18T>A (p.Ser6Arg)
c.105T>A (p.Ser35Arg)
4g.52029793C>ACA356877355SGCBc.314G>T (p.Ser105Ile)
c.397G>T
c.391G>T (n.391G>T)
c.17G>T (p.Ser6Ile)
c.104G>T (p.Ser35Ile)
4g.52029793C=CA1457430000SGCBc.314G= (p.Ser105=)
c.397G=
c.391G= (n.391G=)
c.17G= (p.Ser6=)
c.104G= (p.Ser35=)
4g.52029793C>GCA356877356SGCBc.314G>C (p.Ser105Thr)
c.397G>C
c.391G>C (n.391G>C)
c.17G>C (p.Ser6Thr)
c.104G>C (p.Ser35Thr)
 dbSNP gnomAD v3 gnomAD v4
4g.52029793C>TCA356877357SGCBc.314G>A (p.Ser105Asn)
c.397G>A
c.391G>A (n.391G>A)
c.17G>A (p.Ser6Asn)
c.104G>A (p.Ser35Asn)
4g.52029794T>ACA356877360SGCBc.313A>T (p.Ser105Cys)
c.396A>T
c.390A>T (n.390A>T)
c.16A>T (p.Ser6Cys)
c.103A>T (p.Ser35Cys)
4g.52029794T>CCA356877358SGCBc.313A>G (p.Ser105Gly)
c.396A>G
c.390A>G (n.390A>G)
c.16A>G (p.Ser6Gly)
c.103A>G (p.Ser35Gly)
4g.52029794T>GCA356877359SGCBc.313A>C (p.Ser105Arg)
c.396A>C
c.390A>C (n.390A>C)
c.16A>C (p.Ser6Arg)
c.103A>C (p.Ser35Arg)
4g.52029795T>ACA356877361SGCBc.312A>T (p.Glu104Asp)
c.395A>T
c.389A>T (n.389A>T)
c.15A>T (p.Glu5Asp)
c.102A>T (p.Glu34Asp)
4g.52029795T>CCA439274377SGCBc.312A>G (p.Glu104=)
c.395A>G
c.389A>G (n.389A>G)
c.15A>G (p.Glu5=)
c.102A>G (p.Glu34=)
4g.52029795T>GCA356877362SGCBc.312A>C (p.Glu104Asp)
c.395A>C
c.389A>C (n.389A>C)
c.15A>C (p.Glu5Asp)
c.102A>C (p.Glu34Asp)
4g.52029796T>ACA356877363SGCBc.311A>T (p.Glu104Val)
c.394A>T
c.388A>T (n.388A>T)
c.14A>T (p.Glu5Val)
c.101A>T (p.Glu34Val)
4g.52029796T>CCA356877364SGCBc.311A>G (p.Glu104Gly)
c.394A>G
c.388A>G (n.388A>G)
c.14A>G (p.Glu5Gly)
c.101A>G (p.Glu34Gly)
 gnomAD v4
4g.52029796T>GCA356877365SGCBc.311A>C (p.Glu104Ala)
c.394A>C
c.388A>C (n.388A>C)
c.14A>C (p.Glu5Ala)
c.101A>C (p.Glu34Ala)
4g.52029797C>ACA356877366SGCBc.310G>T (p.Glu104Ter)
c.393G>T
c.387G>T (n.387G>T)
c.13G>T (p.Glu5Ter)
c.100G>T (p.Glu34Ter)
4g.52029797C>GCA356877367SGCBc.310G>C (p.Glu104Gln)
c.393G>C
c.387G>C (n.387G>C)
c.13G>C (p.Glu5Gln)
c.100G>C (p.Glu34Gln)
4g.52029797C>TCA356877368SGCBc.310G>A (p.Glu104Lys)
c.393G>A
c.387G>A (n.387G>A)
c.13G>A (p.Glu5Lys)
c.100G>A (p.Glu34Lys)
4g.52029798A=CA1457430001SGCBc.309T= (p.His103=)
c.392T=
c.386T= (n.386T=)
c.12T= (p.His4=)
c.99T= (p.His33=)
4g.52029798A>CCA356877369SGCBc.309T>G (p.His103Gln)
c.392T>G
c.386T>G (n.386T>G)
c.12T>G (p.His4Gln)
c.99T>G (p.His33Gln)
4g.52029798A>GCA439274381SGCBc.309T>C (p.His103=)
c.392T>C
c.386T>C (n.386T>C)
c.12T>C (p.His4=)
c.99T>C (p.His33=)
4g.52029798A>TCA356877370SGCBc.309T>A (p.His103Gln)
c.392T>A
c.386T>A (n.386T>A)
c.12T>A (p.His4Gln)
c.99T>A (p.His33Gln)
 dbSNP gnomAD v3 gnomAD v4
4g.52029799T>ACA356877371SGCBc.308A>T (p.His103Leu)
c.391A>T
c.385A>T (n.385A>T)
c.11A>T (p.His4Leu)
c.98A>T (p.His33Leu)
4g.52029799T>CCA356877372SGCBc.308A>G (p.His103Arg)
c.391A>G
c.385A>G (n.385A>G)
c.11A>G (p.His4Arg)
c.98A>G (p.His33Arg)
4g.52029799T>GCA356877373SGCBc.308A>C (p.His103Pro)
c.391A>C
c.385A>C (n.385A>C)
c.11A>C (p.His4Pro)
c.98A>C (p.His33Pro)
4g.52029800G>ACA356877374SGCBc.307C>T (p.His103Tyr)
c.390C>T
c.384C>T (n.384C>T)
c.10C>T (p.His4Tyr)
c.97C>T (p.His33Tyr)
4g.52029800G>CCA2918439SGCBc.307C>G (p.His103Asp)
c.390C>G
c.384C>G (n.384C>G)
c.10C>G (p.His4Asp)
c.97C>G (p.His33Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029800G=CA1457430002SGCBc.307C= (p.His103=)
c.390C=
c.384C= (n.384C=)
c.10C= (p.His4=)
c.97C= (p.His33=)
4g.52029800G>TCA356877375SGCBc.307C>A (p.His103Asn)
c.390C>A
c.384C>A (n.384C>A)
c.10C>A (p.His4Asn)
c.97C>A (p.His33Asn)
4g.52029801A>CCA356877376SGCBc.306T>G (p.Phe102Leu)
c.389T>G
c.383T>G (n.383T>G)
c.9T>G (p.Phe3Leu)
c.96T>G (p.Phe32Leu)
4g.52029801A>GCA439274385SGCBc.306T>C (p.Phe102=)
c.389T>C
c.383T>C (n.383T>C)
c.9T>C (p.Phe3=)
c.96T>C (p.Phe32=)
4g.52029801A>TCA356877377SGCBc.306T>A (p.Phe102Leu)
c.389T>A
c.383T>A (n.383T>A)
c.9T>A (p.Phe3Leu)
c.96T>A (p.Phe32Leu)
4g.52029802A>CCA356877379SGCBc.305T>G (p.Phe102Cys)
c.388T>G
c.382T>G (n.382T>G)
c.8T>G (p.Phe3Cys)
c.95T>G (p.Phe32Cys)
4g.52029802A>GCA356877380SGCBc.305T>C (p.Phe102Ser)
c.388T>C
c.382T>C (n.382T>C)
c.8T>C (p.Phe3Ser)
c.95T>C (p.Phe32Ser)
4g.52029802A>TCA356877382SGCBc.305T>A (p.Phe102Tyr)
c.388T>A
c.382T>A (n.382T>A)
c.8T>A (p.Phe3Tyr)
c.95T>A (p.Phe32Tyr)
4g.52029803A>CCA356877384SGCBc.304T>G (p.Phe102Val)
c.387T>G
c.381T>G (n.381T>G)
c.7T>G (p.Phe3Val)
c.94T>G (p.Phe32Val)
4g.52029803A>GCA356877385SGCBc.304T>C (p.Phe102Leu)
c.387T>C
c.381T>C (n.381T>C)
c.7T>C (p.Phe3Leu)
c.94T>C (p.Phe32Leu)
4g.52029803A>TCA356877387SGCBc.304T>A (p.Phe102Ile)
c.387T>A
c.381T>A (n.381T>A)
c.7T>A (p.Phe3Ile)
c.94T>A (p.Phe32Ile)
4g.52029804C>ACA356877388SGCBc.303G>T (p.Glu101Asp)
c.386G>T
c.380G>T (n.380G>T)
c.6G>T (p.Glu2Asp)
c.93G>T (p.Glu31Asp)
4g.52029804C>GCA356877390SGCBc.303G>C (p.Glu101Asp)
c.386G>C
c.380G>C (n.380G>C)
c.6G>C (p.Glu2Asp)
c.93G>C (p.Glu31Asp)
4g.52029804C>TCA439274387SGCBc.303G>A (p.Glu101=)
c.386G>A
c.380G>A (n.380G>A)
c.6G>A (p.Glu2=)
c.93G>A (p.Glu31=)
4g.52029805T>ACA356877391SGCBc.302A>T (p.Glu101Val)
c.385A>T
c.379A>T (n.379A>T)
c.5A>T (p.Glu2Val)
c.92A>T (p.Glu31Val)
4g.52029805T>CCA356877392SGCBc.302A>G (p.Glu101Gly)
c.385A>G
c.379A>G (n.379A>G)
c.5A>G (p.Glu2Gly)
c.92A>G (p.Glu31Gly)
4g.52029805T>GCA356877394SGCBc.302A>C (p.Glu101Ala)
c.385A>C
c.379A>C (n.379A>C)
c.5A>C (p.Glu2Ala)
c.92A>C (p.Glu31Ala)
4g.52029806C>ACA356877398SGCBc.301G>T (p.Glu101Ter)
c.384G>T
c.378G>T (n.378G>T)
c.4G>T (p.Glu2Ter)
c.91G>T (p.Glu31Ter)
4g.52029806C>GCA356877395SGCBc.301G>C (p.Glu101Gln)
c.384G>C
c.378G>C (n.378G>C)
c.4G>C (p.Glu2Gln)
c.91G>C (p.Glu31Gln)
4g.52029806C>TCA356877396SGCBc.301G>A (p.Glu101Lys)
c.384G>A
c.378G>A (n.378G>A)
c.4G>A (p.Glu2Lys)
c.91G>A (p.Glu31Lys)
4g.52029807C>ACA356877400SGCBc.300G>T (p.Met100Ile)
c.383G>T
c.377G>T (n.377G>T)
c.3G>T (p.Met1Ile)
c.90G>T (p.Met30Ile)
4g.52029807C=CA1457430003SGCBc.300G= (p.Met100=)
c.383G=
c.377G= (n.377G=)
c.3G= (p.Met1=)
c.90G= (p.Met30=)
4g.52029807C>GCA356877401SGCBc.300G>C (p.Met100Ile)
c.383G>C
c.377G>C (n.377G>C)
c.3G>C (p.Met1Ile)
c.90G>C (p.Met30Ile)
 gnomAD v4
4g.52029807C>TCA2918440SGCBc.300G>A (p.Met100Ile)
c.383G>A
c.377G>A (n.377G>A)
c.3G>A (p.Met1Ile)
c.90G>A (p.Met30Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029808A=CA1457430004SGCBc.299T= (p.Met100=)
c.382T=
c.376T= (n.376T=)
c.2T= (p.Met1=)
c.89T= (p.Met30=)
4g.52029808A>CCA356877403SGCBc.299T>G (p.Met100Arg)
c.382T>G
c.376T>G (n.376T>G)
c.2T>G (p.Met1Arg)
c.89T>G (p.Met30Arg)
4g.52029808A>GCA356877404SGCBc.299T>C (p.Met100Thr)
c.382T>C
c.376T>C (n.376T>C)
c.2T>C (p.Met1Thr)
c.89T>C (p.Met30Thr)
4g.52029808A>TCA119858SGCBc.299T>A (p.Met100Lys)
c.382T>A
c.376T>A (n.376T>A)
c.2T>A (p.Met1Lys)
c.89T>A (p.Met30Lys)
 ClinVar dbSNP ExAC gnomAD v4
4g.52029809T>ACA356877406SGCBc.298A>T (p.Met100Leu)
c.381A>T
c.375A>T (n.375A>T)
c.1A>T (p.Met1Leu)
c.88A>T (p.Met30Leu)
4g.52029809T>CCA356877407SGCBc.298A>G (p.Met100Val)
c.381A>G
c.375A>G (n.375A>G)
c.1A>G (p.Met1Val)
c.88A>G (p.Met30Val)
4g.52029809T>GCA356877409SGCBc.298A>C (p.Met100Leu)
c.381A>C
c.375A>C (n.375A>C)
c.1A>C (p.Met1Leu)
c.88A>C (p.Met30Leu)
4g.52029810A>CCA356877410SGCBc.297T>G (p.Ser99Arg)
c.380T>G
c.374T>G (n.374T>G)
c.-1T>G (n.-1T>G)
c.87T>G (p.Ser29Arg)
4g.52029810A>GCA439274395SGCBc.297T>C (p.Ser99=)
c.380T>C
c.374T>C (n.374T>C)
c.-1T>C (n.-1T>C)
c.87T>C (p.Ser29=)
4g.52029810A>TCA356877412SGCBc.297T>A (p.Ser99Arg)
c.380T>A
c.374T>A (n.374T>A)
c.-1T>A (n.-1T>A)
c.87T>A (p.Ser29Arg)
4g.52029811C>ACA356877416SGCBc.296G>T (p.Ser99Ile)
c.379G>T
c.373G>T (n.373G>T)
c.-2G>T (n.-2G>T)
c.86G>T (p.Ser29Ile)
4g.52029811C=CA1457430005SGCBc.296G= (p.Ser99=)
c.379G=
c.373G= (n.373G=)
c.-2G= (n.-2G=)
c.86G= (p.Ser29=)
4g.52029811C>GCA356877414SGCBc.296G>C (p.Ser99Thr)
c.379G>C
c.373G>C (n.373G>C)
c.-2G>C (n.-2G>C)
c.86G>C (p.Ser29Thr)
 dbSNP gnomAD v2 gnomAD v4
4g.52029811C>TCA356877413SGCBc.296G>A (p.Ser99Asn)
c.379G>A
c.373G>A (n.373G>A)
c.-2G>A (n.-2G>A)
c.86G>A (p.Ser29Asn)
 gnomAD v4
4g.52029812T>ACA356877418SGCBc.295A>T (p.Ser99Cys)
c.378A>T
c.372A>T (n.372A>T)
c.-3A>T (n.-3A>T)
c.85A>T (p.Ser29Cys)
 COSMIC
4g.52029812T>CCA356877420SGCBc.295A>G (p.Ser99Gly)
c.378A>G
c.372A>G (n.372A>G)
c.-3A>G (n.-3A>G)
c.85A>G (p.Ser29Gly)
4g.52029812T>GCA356877421SGCBc.295A>C (p.Ser99Arg)
c.378A>C
c.372A>C (n.372A>C)
c.-3A>C (n.-3A>C)
c.85A>C (p.Ser29Arg)
4g.52029813A>CCA356877422SGCBc.294T>G (p.Asp98Glu)
c.377T>G
c.371T>G (n.371T>G)
c.-4T>G (n.-4T>G)
c.84T>G (p.Asp28Glu)
4g.52029813A>GCA439274399SGCBc.294T>C (p.Asp98=)
c.377T>C
c.371T>C (n.371T>C)
c.-4T>C (n.-4T>C)
c.84T>C (p.Asp28=)
4g.52029813A>TCA356877423SGCBc.294T>A (p.Asp98Glu)
c.377T>A
c.371T>A (n.371T>A)
c.-4T>A (n.-4T>A)
c.84T>A (p.Asp28Glu)
4g.52029814T>ACA356877425SGCBc.293A>T (p.Asp98Val)
c.376A>T
c.370A>T (n.370A>T)
c.-5A>T (n.-5A>T)
c.83A>T (p.Asp28Val)
4g.52029814T>CCA356877427SGCBc.293A>G (p.Asp98Gly)
c.376A>G
c.370A>G (n.370A>G)
c.-5A>G (n.-5A>G)
c.83A>G (p.Asp28Gly)
4g.52029814T>GCA356877428SGCBc.293A>C (p.Asp98Ala)
c.376A>C
c.370A>C (n.370A>C)
c.-5A>C (n.-5A>C)
c.83A>C (p.Asp28Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52029814T=CA1457430006SGCBc.293A= (p.Asp98=)
c.376A=
c.370A= (n.370A=)
c.-5A= (n.-5A=)
c.83A= (p.Asp28=)
4g.52029815C>ACA356877429SGCBc.292G>T (p.Asp98Tyr)
c.375G>T
c.369G>T (n.369G>T)
c.-6G>T (n.-6G>T)
c.82G>T (p.Asp28Tyr)
4g.52029815C=CA1457430007SGCBc.292G= (p.Asp98=)
c.375G=
c.369G= (n.369G=)
c.-6G= (n.-6G=)
c.82G= (p.Asp28=)
4g.52029815C>GCA356877431SGCBc.292G>C (p.Asp98His)
c.375G>C
c.369G>C (n.369G>C)
c.-6G>C (n.-6G>C)
c.82G>C (p.Asp28His)
 dbSNP gnomAD v3 gnomAD v4
4g.52029815C>TCA356877433SGCBc.292G>A (p.Asp98Asn)
c.375G>A
c.369G>A (n.369G>A)
c.-6G>A (n.-6G>A)
c.82G>A (p.Asp28Asn)
4g.52029816_52029835delCA2586973774SGCBc.273_292del (p.Ile92Ter)
c.356_375del
c.350_369del (n.350_369del)
c.-25_-6del (n.-25_-6del)
c.63_82del (p.Ile22Ter)
4g.52029816A>CCA356877435SGCBc.291T>G (p.Cys97Trp)
c.374T>G
c.368T>G (n.368T>G)
c.-7T>G (n.-7T>G)
c.81T>G (p.Cys27Trp)
4g.52029816A>GCA439274402SGCBc.291T>C (p.Cys97=)
c.374T>C
c.368T>C (n.368T>C)
c.-7T>C (n.-7T>C)
c.81T>C (p.Cys27=)
4g.52029816A>TCA356877437SGCBc.291T>A (p.Cys97Ter)
c.374T>A
c.368T>A (n.368T>A)
c.-7T>A (n.-7T>A)
c.81T>A (p.Cys27Ter)
4g.52029817C>ACA356877440SGCBc.290G>T (p.Cys97Phe)
c.373G>T
c.367G>T (n.367G>T)
c.-8G>T (n.-8G>T)
c.80G>T (p.Cys27Phe)
4g.52029817C=CA1457430008SGCBc.290G= (p.Cys97=)
c.373G=
c.367G= (n.367G=)
c.-8G= (n.-8G=)
c.80G= (p.Cys27=)
4g.52029817C>GCA356877439SGCBc.290G>C (p.Cys97Ser)
c.373G>C
c.367G>C (n.367G>C)
c.-8G>C (n.-8G>C)
c.80G>C (p.Cys27Ser)
4g.52029817C>TCA96783185SGCBc.290G>A (p.Cys97Tyr)
c.373G>A
c.367G>A (n.367G>A)
c.-8G>A (n.-8G>A)
c.80G>A (p.Cys27Tyr)
 dbSNP gnomAD v3 gnomAD v4
4g.52029818A=CA1457430009SGCBc.289T= (p.Cys97=)
c.372T=
c.366T= (n.366T=)
c.-9T= (n.-9T=)
c.79T= (p.Cys27=)
4g.52029818A>CCA356877442SGCBc.289T>G (p.Cys97Gly)
c.372T>G
c.366T>G (n.366T>G)
c.-9T>G (n.-9T>G)
c.79T>G (p.Cys27Gly)
 gnomAD v4
4g.52029818A>GCA96783195SGCBc.289T>C (p.Cys97Arg)
c.372T>C
c.366T>C (n.366T>C)
c.-9T>C (n.-9T>C)
c.79T>C (p.Cys27Arg)
 dbSNP
4g.52029818A>TCA356877445SGCBc.289T>A (p.Cys97Ser)
c.372T>A
c.366T>A (n.366T>A)
c.-9T>A (n.-9T>A)
c.79T>A (p.Cys27Ser)
4g.52029819G>ACA439274404SGCBc.288C>T (p.Gly96=)
c.371C>T
c.365C>T (n.365C>T)
c.-10C>T (n.-10C>T)
c.78C>T (p.Gly26=)
 ClinVar dbSNP COSMIC
4g.52029819G>CCA439274407SGCBc.288C>G (p.Gly96=)
c.371C>G
c.365C>G (n.365C>G)
c.-10C>G (n.-10C>G)
c.78C>G (p.Gly26=)
 ClinVar dbSNP
4g.52029819G>TCA439274408SGCBc.288C>A (p.Gly96=)
c.371C>A
c.365C>A (n.365C>A)
c.-10C>A (n.-10C>A)
c.78C>A (p.Gly26=)
4g.52029820C>ACA356877446SGCBc.287G>T (p.Gly96Val)
c.370G>T
c.364G>T (n.364G>T)
c.-11G>T (n.-11G>T)
c.77G>T (p.Gly26Val)
 gnomAD v4
4g.52029820C>GCA356877448SGCBc.287G>C (p.Gly96Ala)
c.370G>C
c.364G>C (n.364G>C)
c.-11G>C (n.-11G>C)
c.77G>C (p.Gly26Ala)
4g.52029820C>TCA356877449SGCBc.287G>A (p.Gly96Asp)
c.370G>A
c.364G>A (n.364G>A)
c.-11G>A (n.-11G>A)
c.77G>A (p.Gly26Asp)
 gnomAD v4
4g.52029821C>ACA356877451SGCBc.286G>T (p.Gly96Cys)
c.369G>T
c.363G>T (n.363G>T)
c.-12G>T (n.-12G>T)
c.76G>T (p.Gly26Cys)
4g.52029821C>GCA356877452SGCBc.286G>C (p.Gly96Arg)
c.369G>C
c.363G>C (n.363G>C)
c.-12G>C (n.-12G>C)
c.76G>C (p.Gly26Arg)
4g.52029821C>TCA356877454SGCBc.286G>A (p.Gly96Ser)
c.369G>A
c.363G>A (n.363G>A)
c.-12G>A (n.-12G>A)
c.76G>A (p.Gly26Ser)
4g.52029822A=CA1457430010SGCBc.285T= (p.Asn95=)
c.368T=
c.362T= (n.362T=)
c.-13T= (n.-13T=)
c.75T= (p.Asn25=)
4g.52029822A>CCA356877455SGCBc.285T>G (p.Asn95Lys)
c.368T>G
c.362T>G (n.362T>G)
c.-13T>G (n.-13T>G)
c.75T>G (p.Asn25Lys)
4g.52029822A>GCA439274410SGCBc.285T>C (p.Asn95=)
c.368T>C
c.362T>C (n.362T>C)
c.-13T>C (n.-13T>C)
c.75T>C (p.Asn25=)
 ClinVar dbSNP gnomAD v4
4g.52029822A>TCA356877457SGCBc.285T>A (p.Asn95Lys)
c.368T>A
c.362T>A (n.362T>A)
c.-13T>A (n.-13T>A)
c.75T>A (p.Asn25Lys)
4g.52029823T>ACA356877458SGCBc.284A>T (p.Asn95Ile)
c.367A>T
c.361A>T (n.361A>T)
c.-14A>T (n.-14A>T)
c.74A>T (p.Asn25Ile)
4g.52029823T>CCA356877460SGCBc.284A>G (p.Asn95Ser)
c.367A>G
c.361A>G (n.361A>G)
c.-14A>G (n.-14A>G)
c.74A>G (p.Asn25Ser)
4g.52029823T>GCA356877461SGCBc.284A>C (p.Asn95Thr)
c.367A>C
c.361A>C (n.361A>C)
c.-14A>C (n.-14A>C)
c.74A>C (p.Asn25Thr)
4g.52029825_52033601delCA2580101945SGCBc.75_284del
c.61_367del
c.42_361del
c.34-3736_74del
 ClinVar
4g.52029824T>ACA356877465SGCBc.283A>T (p.Asn95Tyr)
c.366A>T
c.360A>T (n.360A>T)
c.-15A>T (n.-15A>T)
c.73A>T (p.Asn25Tyr)
4g.52029824T>CCA356877464SGCBc.283A>G (p.Asn95Asp)
c.366A>G
c.360A>G (n.360A>G)
c.-15A>G (n.-15A>G)
c.73A>G (p.Asn25Asp)
4g.52029824T>GCA356877462SGCBc.283A>C (p.Asn95His)
c.366A>C
c.360A>C (n.360A>C)
c.-15A>C (n.-15A>C)
c.73A>C (p.Asn25His)
4g.52029825T>ACA439274412SGCBc.282A>T (p.Pro94=)
c.365A>T
c.359A>T (n.359A>T)
c.-16A>T (n.-16A>T)
c.72A>T (p.Pro24=)
4g.52029825T>CCA2918441SGCBc.282A>G (p.Pro94=)
c.365A>G
c.359A>G (n.359A>G)
c.-16A>G (n.-16A>G)
c.72A>G (p.Pro24=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029825T>GCA439274411SGCBc.282A>C (p.Pro94=)
c.365A>C
c.359A>C (n.359A>C)
c.-16A>C (n.-16A>C)
c.72A>C (p.Pro24=)
4g.52029825T=CA1457430011SGCBc.282A= (p.Pro94=)
c.365A=
c.359A= (n.359A=)
c.-16A= (n.-16A=)
c.72A= (p.Pro24=)
4g.52029827_52029834delCA2670599191SGCBc.275_282del (p.Ile92LysfsTer4)
c.358_365del
c.352_359del (n.352_359del)
c.-23_-16del (n.-23_-16del)
c.65_72del (p.Ile22LysfsTer4)
 gnomAD v4
4g.52029826G>ACA356877467SGCBc.281C>T (p.Pro94Leu)
c.364C>T
c.358C>T (n.358C>T)
c.-17C>T (n.-17C>T)
c.71C>T (p.Pro24Leu)
4g.52029826G>CCA356877469SGCBc.281C>G (p.Pro94Arg)
c.364C>G
c.358C>G (n.358C>G)
c.-17C>G (n.-17C>G)
c.71C>G (p.Pro24Arg)
4g.52029826G>TCA356877470SGCBc.281C>A (p.Pro94Gln)
c.364C>A
c.358C>A (n.358C>A)
c.-17C>A (n.-17C>A)
c.71C>A (p.Pro24Gln)
4g.52029827G>ACA356877471SGCBc.280C>T (p.Pro94Ser)
c.363C>T
c.357C>T (n.357C>T)
c.-18C>T (n.-18C>T)
c.70C>T (p.Pro24Ser)
4g.52029827G>CCA356877472SGCBc.280C>G (p.Pro94Ala)
c.363C>G
c.357C>G (n.357C>G)
c.-18C>G (n.-18C>G)
c.70C>G (p.Pro24Ala)
4g.52029827G>TCA356877474SGCBc.280C>A (p.Pro94Thr)
c.363C>A
c.357C>A (n.357C>A)
c.-18C>A (n.-18C>A)
c.70C>A (p.Pro24Thr)
4g.52029828T>ACA439274414SGCBc.279A>T (p.Gly93=)
c.362A>T
c.356A>T (n.356A>T)
c.-19A>T (n.-19A>T)
c.69A>T (p.Gly23=)
4g.52029828T>CCA439274416SGCBc.279A>G (p.Gly93=)
c.362A>G
c.356A>G (n.356A>G)
c.-19A>G (n.-19A>G)
c.69A>G (p.Gly23=)
4g.52029828T>GCA439274415SGCBc.279A>C (p.Gly93=)
c.362A>C
c.356A>C (n.356A>C)
c.-19A>C (n.-19A>C)
c.69A>C (p.Gly23=)
4g.52029829C>ACA356877475SGCBc.278G>T (p.Gly93Val)
c.361G>T
c.355G>T (n.355G>T)
c.-20G>T (n.-20G>T)
c.68G>T (p.Gly23Val)
4g.52029829C=CA1457430012SGCBc.278G= (p.Gly93=)
c.361G=
c.355G= (n.355G=)
c.-20G= (n.-20G=)
c.68G= (p.Gly23=)
4g.52029829C>GCA356877477SGCBc.278G>C (p.Gly93Ala)
c.361G>C
c.355G>C (n.355G>C)
c.-20G>C (n.-20G>C)
c.68G>C (p.Gly23Ala)
 ClinVar dbSNP
4g.52029829C>TCA96783216SGCBc.278G>A (p.Gly93Glu)
c.361G>A
c.355G>A (n.355G>A)
c.-20G>A (n.-20G>A)
c.68G>A (p.Gly23Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
4g.52029830C>ACA356877479SGCBc.277G>T (p.Gly93Ter)
c.360G>T
c.354G>T (n.354G>T)
c.-21G>T (n.-21G>T)
c.67G>T (p.Gly23Ter)
4g.52029830C=CA1457430013SGCBc.277G= (p.Gly93=)
c.360G=
c.354G= (n.354G=)
c.-21G= (n.-21G=)
c.67G= (p.Gly23=)
4g.52029830C>GCA356877480SGCBc.277G>C (p.Gly93Arg)
c.360G>C
c.354G>C (n.354G>C)
c.-21G>C (n.-21G>C)
c.67G>C (p.Gly23Arg)
4g.52029830C>TCA2918442SGCBc.277G>A (p.Gly93Arg)
c.360G>A
c.354G>A (n.354G>A)
c.-21G>A (n.-21G>A)
c.67G>A (p.Gly23Arg)
 dbSNP ExAC gnomAD v4
4g.52029831A=CA1457430014SGCBc.276T= (p.Ile92=)
c.359T=
c.353T= (n.353T=)
c.-22T= (n.-22T=)
c.66T= (p.Ile22=)
4g.52029831A>CCA356877482SGCBc.276T>G (p.Ile92Met)
c.359T>G
c.353T>G (n.353T>G)
c.-22T>G (n.-22T>G)
c.66T>G (p.Ile22Met)
4g.52029831A>GCA439274417SGCBc.276T>C (p.Ile92=)
c.359T>C
c.353T>C (n.353T>C)
c.-22T>C (n.-22T>C)
c.66T>C (p.Ile22=)
 dbSNP
4g.52029831A>TCA439274418SGCBc.276T>A (p.Ile92=)
c.359T>A
c.353T>A (n.353T>A)
c.-22T>A (n.-22T>A)
c.66T>A (p.Ile22=)
4g.52029832A=CA1457430015SGCBc.275T= (p.Ile92=)
c.358T=
c.352T= (n.352T=)
c.-23T= (n.-23T=)
c.65T= (p.Ile22=)
4g.52029832A>CCA356877483SGCBc.275T>G (p.Ile92Ser)
c.358T>G
c.352T>G (n.352T>G)
c.-23T>G (n.-23T>G)
c.65T>G (p.Ile22Ser)
4g.52029832A>GCA356877486SGCBc.275T>C (p.Ile92Thr)
c.358T>C
c.352T>C (n.352T>C)
c.-23T>C (n.-23T>C)
c.65T>C (p.Ile22Thr)
 ClinVar dbSNP
4g.52029832A>TCA356877484SGCBc.275T>A (p.Ile92Asn)
c.358T>A
c.352T>A (n.352T>A)
c.-23T>A (n.-23T>A)
c.65T>A (p.Ile22Asn)
4g.52029832_52029833delinsGACA2586973775SGCBc.274_275delinsTC (p.Ile92Ser)
c.357_358delinsTC
c.351_352delinsTC (n.351_352delinsTC)
c.-24_-23delinsTC (n.-24_-23delinsTC)
c.64_65delinsTC (p.Ile22Ser)
4g.52029833T>ACA356877487SGCBc.274A>T (p.Ile92Phe)
c.357A>T
c.351A>T (n.351A>T)
c.-24A>T (n.-24A>T)
c.64A>T (p.Ile22Phe)
4g.52029833T>CCA356877489SGCBc.274A>G (p.Ile92Val)
c.357A>G
c.351A>G (n.351A>G)
c.-24A>G (n.-24A>G)
c.64A>G (p.Ile22Val)
 gnomAD v4
4g.52029833T>GCA356877490SGCBc.274A>C (p.Ile92Leu)
c.357A>C
c.351A>C (n.351A>C)
c.-24A>C (n.-24A>C)
c.64A>C (p.Ile22Leu)
 dbSNP gnomAD v4
4g.52029833T=CA1457430016SGCBc.274A= (p.Ile92=)
c.357A=
c.351A= (n.351A=)
c.-24A= (n.-24A=)
c.64A= (p.Ile22=)
4g.52029834G>ACA2918443SGCBc.273C>T (p.Arg91=)
c.356C>T
c.350C>T (n.350C>T)
c.-25C>T (n.-25C>T)
c.63C>T (p.Arg21=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029834G>CCA439274419SGCBc.273C>G (p.Arg91=)
c.356C>G
c.350C>G (n.350C>G)
c.-25C>G (n.-25C>G)
c.63C>G (p.Arg21=)
4g.52029834G=CA1457430017SGCBc.273C= (p.Arg91=)
c.356C=
c.350C= (n.350C=)
c.-25C= (n.-25C=)
c.63C= (p.Arg21=)
4g.52029834G>TCA439274420SGCBc.273C>A (p.Arg91=)
c.356C>A
c.350C>A (n.350C>A)
c.-25C>A (n.-25C>A)
c.63C>A (p.Arg21=)
4g.52029835C>ACA119860SGCBc.272G>T (p.Arg91Leu)
c.355G>T
c.349G>T (n.349G>T)
c.-26G>T (n.-26G>T)
c.62G>T (p.Arg21Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.52029835C=CA1457430018SGCBc.272G= (p.Arg91=)
c.355G=
c.349G= (n.349G=)
c.-26G= (n.-26G=)
c.62G= (p.Arg21=)
4g.52029835C>GCA119854SGCBc.272G>C (p.Arg91Pro)
c.355G>C
c.349G>C (n.349G>C)
c.-26G>C (n.-26G>C)
c.62G>C (p.Arg21Pro)
 ClinVar dbSNP ExAC gnomAD v4
4g.52029835C>TCA2918444SGCBc.272G>A (p.Arg91His)
c.355G>A
c.349G>A (n.349G>A)
c.-26G>A (n.-26G>A)
c.62G>A (p.Arg21His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.52029836G>ACA2918445SGCBc.271C>T (p.Arg91Cys)
c.354C>T
c.348C>T (n.348C>T)
c.-27C>T (n.-27C>T)
c.61C>T (p.Arg21Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029836G>CCA356877494SGCBc.271C>G (p.Arg91Gly)
c.354C>G
c.348C>G (n.348C>G)
c.-27C>G (n.-27C>G)
c.61C>G (p.Arg21Gly)
4g.52029836G=CA1457430019SGCBc.271C= (p.Arg91=)
c.354C=
c.348C= (n.348C=)
c.-27C= (n.-27C=)
c.61C= (p.Arg21=)
4g.52029836G>TCA356877496SGCBc.271C>A (p.Arg91Ser)
c.354C>A
c.348C>A (n.348C>A)
c.-27C>A (n.-27C>A)
c.61C>A (p.Arg21Ser)
4g.52029837A>CCA356877497SGCBc.270T>G (p.Ile90Met)
c.353T>G
c.347T>G (n.347T>G)
c.-28T>G (n.-28T>G)
c.60T>G (p.Ile20Met)
 gnomAD v4
4g.52029837A>GCA439274421SGCBc.270T>C (p.Ile90=)
c.353T>C
c.347T>C (n.347T>C)
c.-28T>C (n.-28T>C)
c.60T>C (p.Ile20=)
4g.52029837A>TCA439274422SGCBc.270T>A (p.Ile90=)
c.353T>A
c.347T>A (n.347T>A)
c.-28T>A (n.-28T>A)
c.60T>A (p.Ile20=)
4g.52029838A>CCA356877499SGCBc.269T>G (p.Ile90Ser)
c.352T>G
c.346T>G (n.346T>G)
c.-29T>G (n.-29T>G)
c.59T>G (p.Ile20Ser)
4g.52029838A>GCA356877503SGCBc.269T>C (p.Ile90Thr)
c.352T>C
c.346T>C (n.346T>C)
c.-29T>C (n.-29T>C)
c.59T>C (p.Ile20Thr)
4g.52029838A>TCA356877501SGCBc.269T>A (p.Ile90Asn)
c.352T>A
c.346T>A (n.346T>A)
c.-29T>A (n.-29T>A)
c.59T>A (p.Ile20Asn)
4g.52029839T>ACA356877504SGCBc.268A>T (p.Ile90Phe)
c.351A>T
c.345A>T (n.345A>T)
c.-30A>T (n.-30A>T)
c.58A>T (p.Ile20Phe)
 gnomAD v4
4g.52029839T>CCA356877505SGCBc.268A>G (p.Ile90Val)
c.351A>G
c.345A>G (n.345A>G)
c.-30A>G (n.-30A>G)
c.58A>G (p.Ile20Val)
4g.52029839T>GCA356877506SGCBc.268A>C (p.Ile90Leu)
c.351A>C
c.345A>C (n.345A>C)
c.-30A>C (n.-30A>C)
c.58A>C (p.Ile20Leu)
4g.52029840C>ACA439274423SGCBc.267G>T (p.Val89=)
c.350G>T
c.344G>T (n.344G>T)
c.-31G>T (n.-31G>T)
c.57G>T (p.Val19=)
4g.52029840C>GCA439274424SGCBc.267G>C (p.Val89=)
c.350G>C
c.344G>C (n.344G>C)
c.-31G>C (n.-31G>C)
c.57G>C (p.Val19=)
4g.52029840C>TCA439274425SGCBc.267G>A (p.Val89=)
c.350G>A
c.344G>A (n.344G>A)
c.-31G>A (n.-31G>A)
c.57G>A (p.Val19=)
 ClinVar dbSNP
4g.52029841A>CCA356877508SGCBc.266T>G (p.Val89Gly)
c.349T>G
c.343T>G (n.343T>G)
c.-32T>G (n.-32T>G)
c.56T>G (p.Val19Gly)
4g.52029841A>GCA356877510SGCBc.266T>C (p.Val89Ala)
c.349T>C
c.343T>C (n.343T>C)
c.-32T>C (n.-32T>C)
c.56T>C (p.Val19Ala)
4g.52029841A>TCA356877511SGCBc.266T>A (p.Val89Glu)
c.349T>A
c.343T>A (n.343T>A)
c.-32T>A (n.-32T>A)
c.56T>A (p.Val19Glu)
4g.52029842C>ACA356877513SGCBc.265G>T (p.Val89Leu)
c.348G>T
c.342G>T (n.342G>T)
c.-33G>T (n.-33G>T)
c.55G>T (p.Val19Leu)
4g.52029842C=CA1457430020SGCBc.265G= (p.Val89=)
c.348G=
c.342G= (n.342G=)
c.-33G= (n.-33G=)
c.55G= (p.Val19=)
4g.52029842C>GCA356877514SGCBc.265G>C (p.Val89Leu)
c.348G>C
c.342G>C (n.342G>C)
c.-33G>C (n.-33G>C)
c.55G>C (p.Val19Leu)
4g.52029842C>TCA2918446SGCBc.265G>A (p.Val89Met)
c.348G>A
c.342G>A (n.342G>A)
c.-33G>A (n.-33G>A)
c.55G>A (p.Val19Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.52029843G>ACA2918447SGCBc.264C>T (p.Ala88=)
c.347C>T
c.341C>T (n.341C>T)
c.-34C>T (n.-34C>T)
c.54C>T (p.Ala18=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029843G>CCA439274427SGCBc.264C>G (p.Ala88=)
c.347C>G
c.341C>G (n.341C>G)
c.-34C>G (n.-34C>G)
c.54C>G (p.Ala18=)
 ClinVar
4g.52029843G=CA1457430021SGCBc.264C= (p.Ala88=)
c.347C=
c.341C= (n.341C=)
c.-34C= (n.-34C=)
c.54C= (p.Ala18=)
4g.52029843G>TCA439274426SGCBc.264C>A (p.Ala88=)
c.347C>A
c.341C>A (n.341C>A)
c.-34C>A (n.-34C>A)
c.54C>A (p.Ala18=)
4g.52029844G>ACA356877517SGCBc.263C>T (p.Ala88Val)
c.346C>T
c.340C>T (n.340C>T)
c.-35C>T (n.-35C>T)
c.53C>T (p.Ala18Val)
 gnomAD v4
4g.52029844G>CCA356877519SGCBc.263C>G (p.Ala88Gly)
c.346C>G
c.340C>G (n.340C>G)
c.-35C>G (n.-35C>G)
c.53C>G (p.Ala18Gly)
4g.52029844G>TCA356877521SGCBc.263C>A (p.Ala88Asp)
c.346C>A
c.340C>A (n.340C>A)
c.-35C>A (n.-35C>A)
c.53C>A (p.Ala18Asp)
4g.52029845C>ACA356877525SGCBc.262G>T (p.Ala88Ser)
c.345G>T
c.339G>T (n.339G>T)
c.-36G>T (n.-36G>T)
c.52G>T (p.Ala18Ser)
4g.52029845C>GCA356877524SGCBc.262G>C (p.Ala88Pro)
c.345G>C
c.339G>C (n.339G>C)
c.-36G>C (n.-36G>C)
c.52G>C (p.Ala18Pro)
4g.52029845C>TCA356877523SGCBc.262G>A (p.Ala88Thr)
c.345G>A
c.339G>A (n.339G>A)
c.-36G>A (n.-36G>A)
c.52G>A (p.Ala18Thr)
4g.52029846C>ACA356877527SGCBc.261G>T (p.Trp87Cys)
c.344G>T
c.338G>T (n.338G>T)
c.-37G>T (n.-37G>T)
c.51G>T (p.Trp17Cys)
4g.52029846C>GCA356877529SGCBc.261G>C (p.Trp87Cys)
c.344G>C
c.338G>C (n.338G>C)
c.-37G>C (n.-37G>C)
c.51G>C (p.Trp17Cys)
 gnomAD v4
4g.52029846C>TCA356877530SGCBc.261G>A (p.Trp87Ter)
c.344G>A
c.338G>A (n.338G>A)
c.-37G>A (n.-37G>A)
c.51G>A (p.Trp17Ter)
 ClinVar dbSNP gnomAD v4
4g.52029847C>ACA356877531SGCBc.260G>T (p.Trp87Leu)
c.343G>T
c.337G>T (n.337G>T)
c.-38G>T (n.-38G>T)
c.50G>T (p.Trp17Leu)
4g.52029847C>GCA356877532SGCBc.260G>C (p.Trp87Ser)
c.343G>C
c.337G>C (n.337G>C)
c.-38G>C (n.-38G>C)
c.50G>C (p.Trp17Ser)
4g.52029847C>TCA356877533SGCBc.260G>A (p.Trp87Ter)
c.343G>A
c.337G>A (n.337G>A)
c.-38G>A (n.-38G>A)
c.50G>A (p.Trp17Ter)
4g.52029848A>CCA356877535SGCBc.259T>G (p.Trp87Gly)
c.342T>G
c.336T>G (n.336T>G)
c.-39T>G (n.-39T>G)
c.49T>G (p.Trp17Gly)
4g.52029848A>GCA356877536SGCBc.259T>C (p.Trp87Arg)
c.342T>C
c.336T>C (n.336T>C)
c.-39T>C (n.-39T>C)
c.49T>C (p.Trp17Arg)
4g.52029848A>TCA356877537SGCBc.259T>A (p.Trp87Arg)
c.342T>A
c.336T>A (n.336T>A)
c.-39T>A (n.-39T>A)
c.49T>A (p.Trp17Arg)
4g.52029849A>CCA356877539SGCBc.258T>G (p.Ile86Met)
c.341T>G
c.335T>G (n.335T>G)
c.-40T>G (n.-40T>G)
c.48T>G (p.Ile16Met)
4g.52029849A>GCA439274429SGCBc.258T>C (p.Ile86=)
c.341T>C
c.335T>C (n.335T>C)
c.-40T>C (n.-40T>C)
c.48T>C (p.Ile16=)
 ClinVar dbSNP gnomAD v4
4g.52029849A>TCA439274428SGCBc.258T>A (p.Ile86=)
c.341T>A
c.335T>A (n.335T>A)
c.-40T>A (n.-40T>A)
c.48T>A (p.Ile16=)
4g.52029850A=CA1457430022SGCBc.257T= (p.Ile86=)
c.340T=
c.334T= (n.334T=)
c.-41T= (n.-41T=)
c.47T= (p.Ile16=)
4g.52029850A>CCA356877540SGCBc.257T>G (p.Ile86Ser)
c.340T>G
c.334T>G (n.334T>G)
c.-41T>G (n.-41T>G)
c.47T>G (p.Ile16Ser)
4g.52029850A>GCA356877541SGCBc.257T>C (p.Ile86Thr)
c.340T>C
c.334T>C (n.334T>C)
c.-41T>C (n.-41T>C)
c.47T>C (p.Ile16Thr)
 dbSNP gnomAD v3 gnomAD v4
4g.52029850A>TCA356877542SGCBc.257T>A (p.Ile86Asn)
c.340T>A
c.334T>A (n.334T>A)
c.-41T>A (n.-41T>A)
c.47T>A (p.Ile16Asn)
 gnomAD v4
4g.52029851T>ACA356877545SGCBc.256A>T (p.Ile86Phe)
c.339A>T
c.333A>T (n.333A>T)
c.-42A>T (n.-42A>T)
c.46A>T (p.Ile16Phe)
4g.52029851T>CCA356877546SGCBc.256A>G (p.Ile86Val)
c.339A>G
c.333A>G (n.333A>G)
c.-42A>G (n.-42A>G)
c.46A>G (p.Ile16Val)
4g.52029851T>GCA96783260SGCBc.256A>C (p.Ile86Leu)
c.339A>C
c.333A>C (n.333A>C)
c.-42A>C (n.-42A>C)
c.46A>C (p.Ile16Leu)
 dbSNP
4g.52029851T=CA1457430023SGCBc.256A= (p.Ile86=)
c.339A=
c.333A= (n.333A=)
c.-42A= (n.-42A=)
c.46A= (p.Ile16=)
4g.52029852A>CCA439274430SGCBc.255T>G (p.Val85=)
c.338T>G
c.332T>G (n.332T>G)
c.-43T>G (n.-43T>G)
c.45T>G (p.Val15=)
4g.52029852A>GCA439274431SGCBc.255T>C (p.Val85=)
c.338T>C
c.332T>C (n.332T>C)
c.-43T>C (n.-43T>C)
c.45T>C (p.Val15=)
4g.52029852A>TCA439274432SGCBc.255T>A (p.Val85=)
c.338T>A
c.332T>A (n.332T>A)
c.-43T>A (n.-43T>A)
c.45T>A (p.Val15=)
4g.52029853dupCA2499217224SGCBc.255dup (p.Ile86TyrfsTer13)
c.338dup
c.332dup (n.332dup)
c.-43dup (n.-43dup)
c.45dup (p.Ile16TyrfsTer13)
 ClinVar dbSNP
4g.52029852_52029854delinsAACCA1457430024SGCBc.253_255delinsGTT (p.Val85=)
c.336_338delinsGTT
c.330_332delinsGTT (n.330_332delinsGTT)
c.-45_-43delinsGTT (n.-45_-43delinsGTT)
c.43_45delinsGTT (p.Val15=)
4g.52029853A=CA1457430025SGCBc.254T= (p.Val85=)
c.337T=
c.331T= (n.331T=)
c.-44T= (n.-44T=)
c.44T= (p.Val15=)
4g.52029853A>CCA356877548SGCBc.254T>G (p.Val85Gly)
c.337T>G
c.331T>G (n.331T>G)
c.-44T>G (n.-44T>G)
c.44T>G (p.Val15Gly)
 dbSNP
4g.52029853A>GCA356877549SGCBc.254T>C (p.Val85Ala)
c.337T>C
c.331T>C (n.331T>C)
c.-44T>C (n.-44T>C)
c.44T>C (p.Val15Ala)
4g.52029853A>TCA356877551SGCBc.254T>A (p.Val85Asp)
c.337T>A
c.331T>A (n.331T>A)
c.-44T>A (n.-44T>A)
c.44T>A (p.Val15Asp)
 gnomAD v4
4g.52029854_52029855delCA658657383SGCBc.253_254del (p.Val85TyrfsTer13)
c.336_337del
c.330_331del (n.330_331del)
c.-45_-44del (n.-45_-44del)
c.43_44del (p.Val15TyrfsTer13)
 ClinVar dbSNP
4g.52029854C>ACA356877553SGCBc.253G>T (p.Val85Phe)
c.336G>T
c.330G>T (n.330G>T)
c.-45G>T (n.-45G>T)
c.43G>T (p.Val15Phe)
4g.52029854C=CA1457430026SGCBc.253G= (p.Val85=)
c.336G=
c.330G= (n.330G=)
c.-45G= (n.-45G=)
c.43G= (p.Val15=)
4g.52029854C>GCA2918448SGCBc.253G>C (p.Val85Leu)
c.336G>C
c.330G>C (n.330G>C)
c.-45G>C (n.-45G>C)
c.43G>C (p.Val15Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029854C>TCA356877555SGCBc.253G>A (p.Val85Ile)
c.336G>A
c.330G>A (n.330G>A)
c.-45G>A (n.-45G>A)
c.43G>A (p.Val15Ile)
 dbSNP gnomAD v2 gnomAD v4
4g.52029855A>CCA439274433SGCBc.252T>G (p.Leu84=)
c.335T>G
c.329T>G (n.329T>G)
c.-46T>G (n.-46T>G)
c.42T>G (p.Leu14=)
4g.52029855A>GCA439274434SGCBc.252T>C (p.Leu84=)
c.335T>C
c.329T>C (n.329T>C)
c.-46T>C (n.-46T>C)
c.42T>C (p.Leu14=)
 ClinVar gnomAD v4
4g.52029855A>TCA439274435SGCBc.252T>A (p.Leu84=)
c.335T>A
c.329T>A (n.329T>A)
c.-46T>A (n.-46T>A)
c.42T>A (p.Leu14=)
4g.52029856A=CA1457430027SGCBc.251T= (p.Leu84=)
c.334T=
c.328T= (n.328T=)
c.-47T= (n.-47T=)
c.41T= (p.Leu14=)
4g.52029856A>CCA356877556SGCBc.251T>G (p.Leu84Arg)
c.334T>G
c.328T>G (n.328T>G)
c.-47T>G (n.-47T>G)
c.41T>G (p.Leu14Arg)
 gnomAD v4
4g.52029856A>GCA2918449SGCBc.251T>C (p.Leu84Pro)
c.334T>C
c.328T>C (n.328T>C)
c.-47T>C (n.-47T>C)
c.41T>C (p.Leu14Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029856A>TCA356877557SGCBc.251T>A (p.Leu84His)
c.334T>A
c.328T>A (n.328T>A)
c.-47T>A (n.-47T>A)
c.41T>A (p.Leu14His)
4g.52029857G>ACA356877558SGCBc.250C>T (p.Leu84Phe)
c.333C>T
c.327C>T (n.327C>T)
c.-48C>T (n.-48C>T)
c.40C>T (p.Leu14Phe)
4g.52029857G>CCA356877559SGCBc.250C>G (p.Leu84Val)
c.333C>G
c.327C>G (n.327C>G)
c.-48C>G (n.-48C>G)
c.40C>G (p.Leu14Val)
4g.52029857G>TCA356877561SGCBc.250C>A (p.Leu84Ile)
c.333C>A
c.327C>A (n.327C>A)
c.-48C>A (n.-48C>A)
c.40C>A (p.Leu14Ile)
 gnomAD v4
4g.52029858T>ACA439274436SGCBc.249A>T (p.Thr83=)
c.332A>T
c.326A>T (n.326A>T)
c.-49A>T (n.-49A>T)
c.39A>T (p.Thr13=)
 ClinVar dbSNP
4g.52029858T>CCA2918450SGCBc.249A>G (p.Thr83=)
c.332A>G
c.326A>G (n.326A>G)
c.-49A>G (n.-49A>G)
c.39A>G (p.Thr13=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52029858T>GCA2918451SGCBc.249A>C (p.Thr83=)
c.332A>C
c.326A>C (n.326A>C)
c.-49A>C (n.-49A>C)
c.39A>C (p.Thr13=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029858T=CA1457430028SGCBc.249A= (p.Thr83=)
c.332A=
c.326A= (n.326A=)
c.-49A= (n.-49A=)
c.39A= (p.Thr13=)
4g.52029859G>ACA96783300SGCBc.248C>T (p.Thr83Ile)
c.331C>T
c.325C>T (n.325C>T)
c.-50C>T (n.-50C>T)
c.38C>T (p.Thr13Ile)
 dbSNP gnomAD v2 gnomAD v4
4g.52029859G>CCA356877564SGCBc.248C>G (p.Thr83Arg)
c.331C>G
c.325C>G (n.325C>G)
c.-50C>G (n.-50C>G)
c.38C>G (p.Thr13Arg)
4g.52029859G=CA1457430029SGCBc.248C= (p.Thr83=)
c.331C=
c.325C= (n.325C=)
c.-50C= (n.-50C=)
c.38C= (p.Thr13=)
4g.52029859G>TCA356877565SGCBc.248C>A (p.Thr83Lys)
c.331C>A
c.325C>A (n.325C>A)
c.-50C>A (n.-50C>A)
c.38C>A (p.Thr13Lys)
 gnomAD v4
4g.52029860T>ACA356877566SGCBc.247A>T (p.Thr83Ser)
c.330A>T
c.324A>T (n.324A>T)
c.-51A>T (n.-51A>T)
c.37A>T (p.Thr13Ser)
4g.52029860T>CCA356877567SGCBc.247A>G (p.Thr83Ala)
c.330A>G
c.324A>G (n.324A>G)
c.-51A>G (n.-51A>G)
c.37A>G (p.Thr13Ala)
4g.52029860T>GCA356877568SGCBc.247A>C (p.Thr83Pro)
c.330A>C
c.324A>C (n.324A>C)
c.-51A>C (n.-51A>C)
c.37A>C (p.Thr13Pro)
4g.52029861T>ACA439274437SGCBc.246A>T (p.Ile82=)
c.329A>T
c.323A>T (n.323A>T)
c.-52A>T (n.-52A>T)
c.36A>T (p.Ile12=)
4g.52029861T>CCA356877570SGCBc.246A>G (p.Ile82Met)
c.329A>G
c.323A>G (n.323A>G)
c.-52A>G (n.-52A>G)
c.36A>G (p.Ile12Met)
 dbSNP gnomAD v2 gnomAD v4
4g.52029861T>GCA439274438SGCBc.246A>C (p.Ile82=)
c.329A>C
c.323A>C (n.323A>C)
c.-52A>C (n.-52A>C)
c.36A>C (p.Ile12=)
4g.52029861T=CA1457430031SGCBc.246A= (p.Ile82=)
c.329A=
c.323A= (n.323A=)
c.-52A= (n.-52A=)
c.36A= (p.Ile12=)
4g.52029861_52029862delinsTACA1457430030SGCBc.245_246delinsTA (p.Ile82=)
c.328_329delinsTA
c.322_323delinsTA (n.322_323delinsTA)
c.-53_-52delinsTA (n.-53_-52delinsTA)
c.35_36delinsTA (p.Ile12=)
4g.52029862delCA796080486SGCBc.245del (p.Ile82LysfsTer8)
c.328del
c.322del (n.322del)
c.-53del (n.-53del)
c.35del (p.Ile12LysfsTer8)
 dbSNP
4g.52029862A>CCA356877571SGCBc.245T>G (p.Ile82Arg)
c.328T>G
c.322T>G (n.322T>G)
c.-53T>G (n.-53T>G)
c.35T>G (p.Ile12Arg)
4g.52029862A>GCA356877573SGCBc.245T>C (p.Ile82Thr)
c.328T>C
c.322T>C (n.322T>C)
c.-53T>C (n.-53T>C)
c.35T>C (p.Ile12Thr)
4g.52029862A>TCA356877574SGCBc.245T>A (p.Ile82Lys)
c.328T>A
c.322T>A (n.322T>A)
c.-53T>A (n.-53T>A)
c.35T>A (p.Ile12Lys)
4g.52029863T>ACA356877576SGCBc.244A>T (p.Ile82Leu)
c.327A>T
c.321A>T (n.321A>T)
c.-54A>T (n.-54A>T)
c.34A>T (p.Ile12Leu)
4g.52029863T>CCA2918452SGCBc.244A>G (p.Ile82Val)
c.327A>G
c.321A>G (n.321A>G)
c.-54A>G (n.-54A>G)
c.34A>G (p.Ile12Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52029863T>GCA356877578SGCBc.244A>C (p.Ile82Leu)
c.327A>C
c.321A>C (n.321A>C)
c.-54A>C (n.-54A>C)
c.34A>C (p.Ile12Leu)
4g.52029863T=CA1457430032SGCBc.244A= (p.Ile82=)
c.327A=
c.321A= (n.321A=)
c.-54A= (n.-54A=)
c.34A= (p.Ile12=)
4g.52029863_52029864insAGTTCCACATGGCTGGGGATGCCA2670613909SGCBc.244-1_244insGCATCCCCAGCCATGTGGAACT (n.244-1_244insGCATCCCCAGCCATGTGGAACT)
c.327-1_327insGCATCCCCAGCCATGTGGAACT
c.321-1_321insGCATCCCCAGCCATGTGGAACT (n.321-1_321insGCATCCCCAGCCATGTGGAACT)
c.-54-1_-54insGCATCCCCAGCCATGTGGAACT (n.-54-1_-54insGCATCCCCAGCCATGTGGAACT)
c.34-1_34insGCATCCCCAGCCATGTGGAACT (n.34-1_34insGCATCCCCAGCCATGTGGAACT)
 gnomAD v4
4g.52029864C>ACA356877581SGCBc.244-1G>T (n.244-1G>T)
c.327-1G>T
c.321-1G>T (n.321-1G>T)
c.-54-1G>T (n.-54-1G>T)
c.34-1G>T (n.34-1G>T)
4g.52029864C>GCA356877582SGCBc.244-1G>C (n.244-1G>C)
c.327-1G>C
c.321-1G>C (n.321-1G>C)
c.-54-1G>C (n.-54-1G>C)
c.34-1G>C (n.34-1G>C)
4g.52029864C>TCA356877580SGCBc.244-1G>A (n.244-1G>A)
c.327-1G>A
c.321-1G>A (n.321-1G>A)
c.-54-1G>A (n.-54-1G>A)
c.34-1G>A (n.34-1G>A)
 gnomAD v4
4g.52029865T>ACA356877586SGCBc.244-2A>T (n.244-2A>T)
c.327-2A>T
c.321-2A>T (n.321-2A>T)
c.-54-2A>T (n.-54-2A>T)
c.34-2A>T (n.34-2A>T)
4g.52029865T>CCA356877584SGCBc.244-2A>G (n.244-2A>G)
c.327-2A>G
c.321-2A>G (n.321-2A>G)
c.-54-2A>G (n.-54-2A>G)
c.34-2A>G (n.34-2A>G)
 gnomAD v4
4g.52029865T>GCA356877587SGCBc.244-2A>C (n.244-2A>C)
c.327-2A>C
c.321-2A>C (n.321-2A>C)
c.-54-2A>C (n.-54-2A>C)
c.34-2A>C (n.34-2A>C)
4g.52029866G>TCA2573137898SGCBc.244-3C>A (n.244-3C>A)
c.327-3C>A
c.321-3C>A (n.321-3C>A)
c.-54-3C>A (n.-54-3C>A)
c.34-3C>A (n.34-3C>A)
 ClinVar dbSNP
4g.52029871_52029872insAAAAAAAACA2761641289SGCBc.244-4_244-3insTTTTTTTT (n.244-4_244-3insTTTTTTTT)
c.327-4_327-3insTTTTTTTT
c.321-4_321-3insTTTTTTTT (n.321-4_321-3insTTTTTTTT)
c.-54-4_-54-3insTTTTTTTT (n.-54-4_-54-3insTTTTTTTT)
c.34-4_34-3insTTTTTTTT (n.34-4_34-3insTTTTTTTT)
4g.52029871_52029872insAAAAAAAAAACA2761641290SGCBc.244-4_244-3insTTTTTTTTTT (n.244-4_244-3insTTTTTTTTTT)
c.327-4_327-3insTTTTTTTTTT
c.321-4_321-3insTTTTTTTTTT (n.321-4_321-3insTTTTTTTTTT)
c.-54-4_-54-3insTTTTTTTTTT (n.-54-4_-54-3insTTTTTTTTTT)
c.34-4_34-3insTTTTTTTTTT (n.34-4_34-3insTTTTTTTTTT)
4g.52029871delCA2670613910SGCBc.244-4del (n.244-4del)
c.327-4del
c.321-4del (n.321-4del)
c.-54-4del (n.-54-4del)
c.34-4del (n.34-4del)
 gnomAD v4
4g.52029872G>CCA2578086674SGCBc.244-9C>G (n.244-9C>G)
c.327-9C>G
c.321-9C>G (n.321-9C>G)
c.-54-9C>G (n.-54-9C>G)
c.34-9C>G (n.34-9C>G)
 ClinVar gnomAD v4
4g.52029872G>TCA2670613911SGCBc.244-9C>A (n.244-9C>A)
c.327-9C>A
c.321-9C>A (n.321-9C>A)
c.-54-9C>A (n.-54-9C>A)
c.34-9C>A (n.34-9C>A)
 gnomAD v4

Number of alleles fetched