Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.54042688T>ACA413249816PHF8c.41A>T (p.Tyr14Phe)
c.149A>T (p.Tyr50Phe)
n.29A>T
Xg.54042688T>CCA413249817PHF8c.41A>G (p.Tyr14Cys)
c.149A>G (p.Tyr50Cys)
n.29A>G
 gnomAD v4
Xg.54042688T>GCA413249818PHF8c.41A>C (p.Tyr14Ser)
c.149A>C (p.Tyr50Ser)
n.29A>C
Xg.54042689A>CCA413249819PHF8c.40T>G (p.Tyr14Asp)
c.148T>G (p.Tyr50Asp)
n.28T>G
Xg.54042689A>GCA413249820PHF8c.40T>C (p.Tyr14His)
c.148T>C (p.Tyr50His)
n.28T>C
Xg.54042689A>TCA413249821PHF8c.40T>A (p.Tyr14Asn)
c.148T>A (p.Tyr50Asn)
n.28T>A
Xg.54042690A>CCA516566203PHF8c.39T>G (p.Pro13=)
c.147T>G (p.Pro49=)
n.27T>G
Xg.54042690A>GCA516566202PHF8c.39T>C (p.Pro13=)
c.147T>C (p.Pro49=)
n.27T>C
Xg.54042690A>TCA516566201PHF8c.39T>A (p.Pro13=)
c.147T>A (p.Pro49=)
n.27T>A
Xg.54042691G>ACA413249822PHF8c.38C>T (p.Pro13Leu)
c.146C>T (p.Pro49Leu)
n.26C>T
Xg.54042691G>CCA413249823PHF8c.38C>G (p.Pro13Arg)
c.146C>G (p.Pro49Arg)
n.26C>G
Xg.54042691G>TCA413249824PHF8c.38C>A (p.Pro13His)
c.146C>A (p.Pro49His)
n.26C>A
Xg.54042692G>ACA413249827PHF8c.37C>T (p.Pro13Ser)
c.145C>T (p.Pro49Ser)
n.25C>T
Xg.54042692G>CCA413249826PHF8c.37C>G (p.Pro13Ala)
c.145C>G (p.Pro49Ala)
n.25C>G
Xg.54042692G>TCA413249825PHF8c.37C>A (p.Pro13Thr)
c.145C>A (p.Pro49Thr)
n.25C>A
Xg.54042693C>ACA516566204PHF8c.36G>T (p.Leu12=)
c.144G>T (p.Leu48=)
n.24G>T
Xg.54042693C>GCA516566206PHF8c.36G>C (p.Leu12=)
c.144G>C (p.Leu48=)
n.24G>C
Xg.54042693C>TCA516566205PHF8c.36G>A (p.Leu12=)
c.144G>A (p.Leu48=)
n.24G>A
Xg.54042694A>CCA413249828PHF8c.35T>G (p.Leu12Arg)
c.143T>G (p.Leu48Arg)
n.23T>G
Xg.54042694A>GCA413249829PHF8c.35T>C (p.Leu12Pro)
c.143T>C (p.Leu48Pro)
n.23T>C
Xg.54042694A>TCA413249830PHF8c.35T>A (p.Leu12Gln)
c.143T>A (p.Leu48Gln)
n.23T>A
Xg.54042695G>ACA516566207PHF8c.34C>T (p.Leu12=)
c.142C>T (p.Leu48=)
n.22C>T
 gnomAD v4
Xg.54042695G>CCA413249831PHF8c.34C>G (p.Leu12Val)
c.142C>G (p.Leu48Val)
n.22C>G
Xg.54042695G>TCA413249832PHF8c.34C>A (p.Leu12Met)
c.142C>A (p.Leu48Met)
n.22C>A
Xg.54042696C>ACA516566208PHF8c.33G>T (p.Arg11=)
c.141G>T (p.Arg47=)
n.21G>T
Xg.54042696C>GCA516566209PHF8c.33G>C (p.Arg11=)
c.141G>C (p.Arg47=)
n.21G>C
Xg.54042696C>TCA516566210PHF8c.33G>A (p.Arg11=)
c.141G>A (p.Arg47=)
n.21G>A
Xg.54042697C>ACA413249833PHF8c.32G>T (p.Arg11Leu)
c.140G>T (p.Arg47Leu)
n.20G>T
Xg.54042697C=CA2430051098PHF8c.32G= (p.Arg11=)
c.140G= (p.Arg47=)
n.20G=
Xg.54042697C>GCA413249834PHF8c.32G>C (p.Arg11Pro)
c.140G>C (p.Arg47Pro)
n.20G>C
Xg.54042697C>TCA413249835PHF8c.32G>A (p.Arg11Gln)
c.140G>A (p.Arg47Gln)
n.20G>A
 dbSNP
Xg.54042698G>ACA413249836PHF8c.31C>T (p.Arg11Trp)
c.139C>T (p.Arg47Trp)
n.19C>T
Xg.54042698G>CCA413249837PHF8c.31C>G (p.Arg11Gly)
c.139C>G (p.Arg47Gly)
n.19C>G
Xg.54042698G>TCA516566211PHF8c.31C>A (p.Arg11=)
c.139C>A (p.Arg47=)
n.19C>A
 gnomAD v4
Xg.54042699G>ACA516566212PHF8c.30C>T (p.Cys10=)
c.138C>T (p.Cys46=)
n.18C>T
 COSMIC COSMIC COSMIC COSMIC
Xg.54042699G>CCA413249838PHF8c.30C>G (p.Cys10Trp)
c.138C>G (p.Cys46Trp)
n.18C>G
Xg.54042699G>TCA413249839PHF8c.30C>A (p.Cys10Ter)
c.138C>A (p.Cys46Ter)
n.18C>A
Xg.54042700C>ACA413249841PHF8c.29G>T (p.Cys10Phe)
c.137G>T (p.Cys46Phe)
n.17G>T
Xg.54042700C>GCA413249842PHF8c.29G>C (p.Cys10Ser)
c.137G>C (p.Cys46Ser)
n.17G>C
Xg.54042700C>TCA413249840PHF8c.29G>A (p.Cys10Tyr)
c.137G>A (p.Cys46Tyr)
n.17G>A
Xg.54042701A>CCA413249845PHF8c.28T>G (p.Cys10Gly)
c.136T>G (p.Cys46Gly)
n.16T>G
Xg.54042701A>GCA413249843PHF8c.28T>C (p.Cys10Arg)
c.136T>C (p.Cys46Arg)
n.16T>C
Xg.54042701A>TCA413249844PHF8c.28T>A (p.Cys10Ser)
c.136T>A (p.Cys46Ser)
n.16T>A
Xg.54042702G>ACA516566213PHF8c.27C>T (p.Leu9=)
c.135C>T (p.Leu45=)
n.15C>T
Xg.54042702G>CCA516566214PHF8c.27C>G (p.Leu9=)
c.135C>G (p.Leu45=)
n.15C>G
Xg.54042702G>TCA516566215PHF8c.27C>A (p.Leu9=)
c.135C>A (p.Leu45=)
n.15C>A
Xg.54042703A>CCA413249846PHF8c.26T>G (p.Leu9Arg)
c.134T>G (p.Leu45Arg)
n.14T>G
Xg.54042703A>GCA413249847PHF8c.26T>C (p.Leu9Pro)
c.134T>C (p.Leu45Pro)
n.14T>C
Xg.54042703A>TCA413249848PHF8c.26T>A (p.Leu9His)
c.134T>A (p.Leu45His)
n.14T>A
Xg.54042704G>ACA413249851PHF8c.25C>T (p.Leu9Phe)
c.133C>T (p.Leu45Phe)
n.13C>T
 gnomAD v4
Xg.54042704G>CCA413249850PHF8c.25C>G (p.Leu9Val)
c.133C>G (p.Leu45Val)
n.13C>G
Xg.54042704G>TCA413249849PHF8c.25C>A (p.Leu9Ile)
c.133C>A (p.Leu45Ile)
n.13C>A
Xg.54042705G>ACA10423692PHF8c.24C>T (p.Cys8=)
c.132C>T (p.Cys44=)
n.12C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.54042705G>CCA413249852PHF8c.24C>G (p.Cys8Trp)
c.132C>G (p.Cys44Trp)
n.12C>G
Xg.54042705G=CA2430051099PHF8c.24C= (p.Cys8=)
c.132C= (p.Cys44=)
n.12C=
Xg.54042705G>TCA413249853PHF8c.24C>A (p.Cys8Ter)
c.132C>A (p.Cys44Ter)
n.12C>A
Xg.54042706C>ACA413249854PHF8c.23G>T (p.Cys8Phe)
c.131G>T (p.Cys44Phe)
n.11G>T
Xg.54042706C>GCA413249855PHF8c.23G>C (p.Cys8Ser)
c.131G>C (p.Cys44Ser)
n.11G>C
Xg.54042706C>TCA413249856PHF8c.23G>A (p.Cys8Tyr)
c.131G>A (p.Cys44Tyr)
n.11G>A
Xg.54042707A>CCA413249857PHF8c.22T>G (p.Cys8Gly)
c.130T>G (p.Cys44Gly)
n.10T>G
Xg.54042707A>GCA413249859PHF8c.22T>C (p.Cys8Arg)
c.130T>C (p.Cys44Arg)
n.10T>C
Xg.54042707A>TCA413249858PHF8c.22T>A (p.Cys8Ser)
c.130T>A (p.Cys44Ser)
n.10T>A
Xg.54042708A>CCA413249860PHF8c.21T>G (p.Tyr7Ter)
c.129T>G (p.Tyr43Ter)
n.9T>G
Xg.54042708A>GCA516566216PHF8c.21T>C (p.Tyr7=)
c.129T>C (p.Tyr43=)
n.9T>C
Xg.54042708A>TCA413249861PHF8c.21T>A (p.Tyr7Ter)
c.129T>A (p.Tyr43Ter)
n.9T>A
Xg.54042709T>ACA413249862PHF8c.20A>T (p.Tyr7Phe)
c.128A>T (p.Tyr43Phe)
n.8A>T
Xg.54042709T>CCA413249863PHF8c.20A>G (p.Tyr7Cys)
c.128A>G (p.Tyr43Cys)
n.8A>G
Xg.54042709T>GCA413249864PHF8c.20A>C (p.Tyr7Ser)
c.128A>C (p.Tyr43Ser)
n.8A>C
Xg.54042710A>CCA413249865PHF8c.19T>G (p.Tyr7Asp)
c.127T>G (p.Tyr43Asp)
n.7T>G
Xg.54042710A>GCA413249866PHF8c.19T>C (p.Tyr7His)
c.127T>C (p.Tyr43His)
n.7T>C
Xg.54042710A>TCA413249867PHF8c.19T>A (p.Tyr7Asn)
c.127T>A (p.Tyr43Asn)
n.7T>A
Xg.54042711C>ACA516566217PHF8c.18G>T (p.Val6=)
c.126G>T (p.Val42=)
n.6G>T
Xg.54042711C>GCA516566218PHF8c.18G>C (p.Val6=)
c.126G>C (p.Val42=)
n.6G>C
Xg.54042711C>TCA516566219PHF8c.18G>A (p.Val6=)
c.126G>A (p.Val42=)
n.6G>A
Xg.54042716_54042721delCA2693831007PHF8c.13_18del (p.Pro5_Val6del)
c.121_126del (p.Pro41_Val42del)
 gnomAD v4
Xg.54042712A=CA2430051100PHF8c.17T= (p.Val6=)
c.125T= (p.Val42=)
n.5T=
Xg.54042712A>CCA413249868PHF8c.17T>G (p.Val6Gly)
c.125T>G (p.Val42Gly)
n.5T>G
 dbSNP
Xg.54042712A>GCA413249869PHF8c.17T>C (p.Val6Ala)
c.125T>C (p.Val42Ala)
n.5T>C
Xg.54042712A>TCA413249870PHF8c.17T>A (p.Val6Glu)
c.125T>A (p.Val42Glu)
n.5T>A
Xg.54042713C>ACA413249873PHF8c.16G>T (p.Val6Leu)
c.124G>T (p.Val42Leu)
n.4G>T
Xg.54042713C>GCA413249872PHF8c.16G>C (p.Val6Leu)
c.124G>C (p.Val42Leu)
n.4G>C
Xg.54042713C>TCA413249871PHF8c.16G>A (p.Val6Met)
c.124G>A (p.Val42Met)
n.4G>A
Xg.54042714C>ACA516566220PHF8c.15G>T (p.Pro5=)
c.123G>T (p.Pro41=)
n.3G>T
Xg.54042714C>GCA516566222PHF8c.15G>C (p.Pro5=)
c.123G>C (p.Pro41=)
n.3G>C
Xg.54042714C>TCA516566221PHF8c.15G>A (p.Pro5=)
c.123G>A (p.Pro41=)
n.3G>A
 gnomAD v4
Xg.54042715G>ACA413249874PHF8c.14C>T (p.Pro5Leu)
c.122C>T (p.Pro41Leu)
n.2C>T
Xg.54042715G>CCA413249875PHF8c.14C>G (p.Pro5Arg)
c.122C>G (p.Pro41Arg)
n.2C>G
Xg.54042715G>TCA413249876PHF8c.14C>A (p.Pro5Gln)
c.122C>A (p.Pro41Gln)
n.2C>A
Xg.54042716G>ACA413249877PHF8c.13C>T (p.Pro5Ser)
c.121C>T (p.Pro41Ser)
n.1C>T
Xg.54042716G>CCA413249878PHF8c.13C>G (p.Pro5Ala)
c.121C>G (p.Pro41Ala)
n.1C>G
Xg.54042716G>TCA413249879PHF8c.13C>A (p.Pro5Thr)
c.121C>A (p.Pro41Thr)
n.1C>A
Xg.54042717C>ACA516566223PHF8c.12G>T (p.Val4=)
c.120G>T (p.Val40=)
Xg.54042717C>GCA516566224PHF8c.12G>C (p.Val4=)
c.120G>C (p.Val40=)
Xg.54042717C>TCA516566225PHF8c.12G>A (p.Val4=)
c.120G>A (p.Val40=)
Xg.54042718A>CCA413249880PHF8c.11T>G (p.Val4Gly)
c.119T>G (p.Val40Gly)
Xg.54042718A>GCA413249881PHF8c.11T>C (p.Val4Ala)
c.119T>C (p.Val40Ala)
 gnomAD v4
Xg.54042718A>TCA413249882PHF8c.11T>A (p.Val4Glu)
c.119T>A (p.Val40Glu)
Xg.54042719C>ACA413249883PHF8c.10G>T (p.Val4Leu)
c.118G>T (p.Val40Leu)
Xg.54042719C>GCA413249884PHF8c.10G>C (p.Val4Leu)
c.118G>C (p.Val40Leu)
Xg.54042719C>TCA413249885PHF8c.10G>A (p.Val4Met)
c.118G>A (p.Val40Met)
 gnomAD v4
Xg.54042720C>ACA516566226PHF8c.9G>T (p.Ser3=)
c.117G>T (p.Ser39=)
Xg.54042720C=CA2430051101PHF8c.9G= (p.Ser3=)
c.117G= (p.Ser39=)
Xg.54042720C>GCA516566227PHF8c.9G>C (p.Ser3=)
c.117G>C (p.Ser39=)
Xg.54042720C>TCA516566228PHF8c.9G>A (p.Ser3=)
c.117G>A (p.Ser39=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.54042721delCA2579619968PHF8c.8del (p.Ser3TrpfsTer14)
c.116del (p.Ser39TrpfsTer14)
Xg.54042721G>ACA413249887PHF8c.8C>T (p.Ser3Leu)
c.116C>T (p.Ser39Leu)
 gnomAD v4
Xg.54042721G>CCA413249888PHF8c.8C>G (p.Ser3Trp)
c.116C>G (p.Ser39Trp)
Xg.54042721G>TCA413249886PHF8c.8C>A (p.Ser3Ter)
c.116C>A (p.Ser39Ter)
Xg.54042722A>CCA413249889PHF8c.7T>G (p.Ser3Ala)
c.115T>G (p.Ser39Ala)
Xg.54042722A>GCA413249890PHF8c.7T>C (p.Ser3Pro)
c.115T>C (p.Ser39Pro)
Xg.54042722A>TCA413249891PHF8c.7T>A (p.Ser3Thr)
c.115T>A (p.Ser39Thr)
Xg.54042723G>ACA10423693PHF8c.6C>T (p.Ala2=)
c.114C>T (p.Ala38=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.54042723G>CCA516566229PHF8c.6C>G (p.Ala2=)
c.114C>G (p.Ala38=)
Xg.54042723G=CA2430051102PHF8c.6C= (p.Ala2=)
c.114C= (p.Ala38=)
Xg.54042723G>TCA516566230PHF8c.6C>A (p.Ala2=)
c.114C>A (p.Ala38=)
Xg.54042724G>ACA413249894PHF8c.5C>T (p.Ala2Val)
c.113C>T (p.Ala38Val)
Xg.54042724G>CCA413249893PHF8c.5C>G (p.Ala2Gly)
c.113C>G (p.Ala38Gly)
Xg.54042724G>TCA413249892PHF8c.5C>A (p.Ala2Asp)
c.113C>A (p.Ala38Asp)
Xg.54042725C>ACA413249895PHF8c.4G>T (p.Ala2Ser)
c.112G>T (p.Ala38Ser)
Xg.54042725C>GCA413249896PHF8c.4G>C (p.Ala2Pro)
c.112G>C (p.Ala38Pro)
Xg.54042725C>TCA413249897PHF8c.4G>A (p.Ala2Thr)
c.112G>A (p.Ala38Thr)
Xg.54042726C>ACA413249898PHF8c.3G>T (p.Met1Ile)
c.111G>T (p.Met37Ile)
Xg.54042726C>GCA413249899PHF8c.3G>C (p.Met1Ile)
c.111G>C (p.Met37Ile)
Xg.54042726C>TCA413249900PHF8c.3G>A (p.Met1Ile)
c.111G>A (p.Met37Ile)
Xg.54042727A>CCA413249903PHF8c.2T>G (p.Met1Arg)
c.110T>G (p.Met37Arg)
Xg.54042727A>GCA413249902PHF8c.2T>C (p.Met1Thr)
c.110T>C (p.Met37Thr)
Xg.54042727A>TCA413249901PHF8c.2T>A (p.Met1Lys)
c.110T>A (p.Met37Lys)
Xg.54042728T>ACA413249904PHF8c.1A>T (p.Met1Leu)
c.109A>T (p.Met37Leu)
Xg.54042728T>CCA413249906PHF8c.1A>G (p.Met1Val)
c.109A>G (p.Met37Val)
Xg.54042728T>GCA413249905PHF8c.1A>C (p.Met1Leu)
c.109A>C (p.Met37Leu)
Xg.54042729C>ACA413249907PHF8c.-1G>T (n.-1G>T)
c.108G>T (p.Lys36Asn)
Xg.54042729C=CA2430051103PHF8c.-1G= (n.-1G=)
c.108G= (p.Lys36=)
Xg.54042729C>GCA413249908PHF8c.-1G>C (n.-1G>C)
c.108G>C (p.Lys36Asn)
Xg.54042729C>TCA10423694PHF8c.-1G>A (n.-1G>A)
c.108G>A (p.Lys36=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.54042730T>ACA413249909PHF8c.-2A>T (n.-2A>T)
c.107A>T (p.Lys36Met)
Xg.54042730T>CCA413249910PHF8c.-2A>G (n.-2A>G)
c.107A>G (p.Lys36Arg)
Xg.54042730T>GCA413249911PHF8c.-2A>C (n.-2A>C)
c.107A>C (p.Lys36Thr)
Xg.54042731T>ACA413249912PHF8c.-3A>T (n.-3A>T)
c.106A>T (p.Lys36Ter)
Xg.54042731T>CCA413249913PHF8c.-3A>G (n.-3A>G)
c.106A>G (p.Lys36Glu)
Xg.54042731T>GCA413249914PHF8c.-3A>C (n.-3A>C)
c.106A>C (p.Lys36Gln)
Xg.54042732C>ACA516566231PHF8c.-4G>T (n.-4G>T)
c.105G>T (p.Ala35=)
Xg.54042732C=CA2430051104PHF8c.-4G= (n.-4G=)
c.105G= (p.Ala35=)
Xg.54042732C>GCA516566232PHF8c.-4G>C (n.-4G>C)
c.105G>C (p.Ala35=)
Xg.54042732C>TCA10423695PHF8c.-4G>A (n.-4G>A)
c.105G>A (p.Ala35=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.54042733G>ACA10423696PHF8c.-5C>T (n.-5C>T)
c.104C>T (p.Ala35Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.54042733G>CCA413249915PHF8c.-5C>G (n.-5C>G)
c.104C>G (p.Ala35Gly)
 gnomAD v4
Xg.54042733G=CA2430051105PHF8c.-5C= (n.-5C=)
c.104C= (p.Ala35=)
Xg.54042733G>TCA413249916PHF8c.-5C>A (n.-5C>A)
c.104C>A (p.Ala35Glu)
 COSMIC
Xg.54042734delCA2571340586PHF8c.-6del (n.-6del)
c.103del (p.Ala35ArgfsTer18)
Xg.54042734C>ACA413249919PHF8c.-6G>T (n.-6G>T)
c.103G>T (p.Ala35Ser)
Xg.54042734C=CA2430051106PHF8c.-6G= (n.-6G=)
c.103G= (p.Ala35=)
Xg.54042734C>GCA413249918PHF8c.-6G>C (n.-6G>C)
c.103G>C (p.Ala35Pro)
 dbSNP gnomAD v2 gnomAD v4
Xg.54042734C>TCA413249917PHF8c.-6G>A (n.-6G>A)
c.103G>A (p.Ala35Thr)
Xg.54042735T>ACA516566233PHF8c.-7A>T (n.-7A>T)
c.102A>T (p.Arg34=)
Xg.54042735T>CCA516566235PHF8c.-7A>G (n.-7A>G)
c.102A>G (p.Arg34=)
Xg.54042735T>GCA516566234PHF8c.-7A>C (n.-7A>C)
c.102A>C (p.Arg34=)
Xg.54042736delCA2579619969PHF8c.-8del (n.-8del)
c.101del (p.Arg34GlnfsTer19)
Xg.54042736C>ACA413249920PHF8c.-8G>T (n.-8G>T)
c.101G>T (p.Arg34Leu)
 gnomAD v4
Xg.54042736C=CA2430051107PHF8c.-8G= (n.-8G=)
c.101G= (p.Arg34=)
Xg.54042736C>GCA413249921PHF8c.-8G>C (n.-8G>C)
c.101G>C (p.Arg34Pro)
 dbSNP gnomAD v3 gnomAD v4
Xg.54042736C>TCA329927522PHF8c.-8G>A (n.-8G>A)
c.101G>A (p.Arg34Gln)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
Xg.54042741_54042762delCA2519210689PHF8c.-29_-8del (n.-29_-8del)
c.80_101del (p.Gly27GlufsTer19)
Xg.54042736_54042737insTCA2535031377PHF8c.-9_-8insA (n.-9_-8insA)
c.100_101insA (p.Arg34GlnfsTer27)
Xg.54042737G>ACA10423697PHF8c.-9C>T (n.-9C>T)
c.100C>T (p.Arg34Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.54042737G>CCA413249922PHF8c.-9C>G (n.-9C>G)
c.100C>G (p.Arg34Gly)
Xg.54042737G=CA2430051108PHF8c.-9C= (n.-9C=)
c.100C= (p.Arg34=)
Xg.54042737G>TCA516566236PHF8c.-9C>A (n.-9C>A)
c.100C>A (p.Arg34=)
Xg.54042738G>ACA516566237PHF8c.-10C>T (n.-10C>T)
c.99C>T (p.Gly33=)
Xg.54042738G>CCA516566238PHF8c.-10C>G (n.-10C>G)
c.99C>G (p.Gly33=)
Xg.54042738G>TCA516566239PHF8c.-10C>A (n.-10C>A)
c.99C>A (p.Gly33=)
Xg.54042739C>ACA413249923PHF8c.-11G>T (n.-11G>T)
c.98G>T (p.Gly33Val)
Xg.54042739C>GCA413249924PHF8c.-11G>C (n.-11G>C)
c.98G>C (p.Gly33Ala)
Xg.54042739C>TCA413249925PHF8c.-11G>A (n.-11G>A)
c.98G>A (p.Gly33Asp)
Xg.54042740C>ACA413249926PHF8c.-12G>T (n.-12G>T)
c.97G>T (p.Gly33Cys)
 gnomAD v4
Xg.54042740C>GCA413249927PHF8c.-12G>C (n.-12G>C)
c.97G>C (p.Gly33Arg)
Xg.54042740C>TCA413249928PHF8c.-12G>A (n.-12G>A)
c.97G>A (p.Gly33Ser)
 gnomAD v4
Xg.54042741C>ACA413249929PHF8c.-13G>T (n.-13G>T)
c.96G>T (p.Gln32His)
 gnomAD v4
Xg.54042741C>GCA413249930PHF8c.-13G>C (n.-13G>C)
c.96G>C (p.Gln32His)
Xg.54042741C>TCA516566240PHF8c.-13G>A (n.-13G>A)
c.96G>A (p.Gln32=)
 gnomAD v4
Xg.54042742T>ACA413249933PHF8c.-14A>T (n.-14A>T)
c.95A>T (p.Gln32Leu)
Xg.54042742T>CCA413249932PHF8c.-14A>G (n.-14A>G)
c.95A>G (p.Gln32Arg)
 gnomAD v4
Xg.54042742T>GCA413249931PHF8c.-14A>C (n.-14A>C)
c.95A>C (p.Gln32Pro)
Xg.54042742_54042754delinsTGGAGCGTTCTGCCA2430051109PHF8c.-26_-14delinsGCAGAACGCTCCA (n.-26_-14delinsGCAGAACGCTCCA)
c.83_95delinsGCAGAACGCTCCA (p.Arg28=)
Xg.54042743G>ACA413249934PHF8c.-15C>T (n.-15C>T)
c.94C>T (p.Gln32Ter)
Xg.54042743G>CCA413249935PHF8c.-15C>G (n.-15C>G)
c.94C>G (p.Gln32Glu)
Xg.54042743G>TCA413249936PHF8c.-15C>A (n.-15C>A)
c.94C>A (p.Gln32Lys)
Xg.54042745_54042756delCA2430051110PHF8c.-26_-15del (n.-26_-15del)
c.83_94del (p.Arg28_Leu31del)
 dbSNP
Xg.54042744G>ACA516566243PHF8c.-16C>T (n.-16C>T)
c.93C>T (p.Leu31=)
Xg.54042744G>CCA516566241PHF8c.-16C>G (n.-16C>G)
c.93C>G (p.Leu31=)
Xg.54042744G>TCA516566242PHF8c.-16C>A (n.-16C>A)
c.93C>A (p.Leu31=)
Xg.54042745A>CCA413249937PHF8c.-17T>G (n.-17T>G)
c.92T>G (p.Leu31Arg)
Xg.54042745A>GCA413249938PHF8c.-17T>C (n.-17T>C)
c.92T>C (p.Leu31Pro)
 gnomAD v4
Xg.54042745A>TCA413249939PHF8c.-17T>A (n.-17T>A)
c.92T>A (p.Leu31His)
Xg.54042746G>ACA413249940PHF8c.-18C>T (n.-18C>T)
c.91C>T (p.Leu31Phe)
Xg.54042746G>CCA413249941PHF8c.-18C>G (n.-18C>G)
c.91C>G (p.Leu31Val)
Xg.54042746G>TCA413249942PHF8c.-18C>A (n.-18C>A)
c.91C>A (p.Leu31Ile)
Xg.54042747C>ACA516566244PHF8c.-19G>T (n.-19G>T)
c.90G>T (p.Thr30=)
Xg.54042747C>GCA516566245PHF8c.-19G>C (n.-19G>C)
c.90G>C (p.Thr30=)
 gnomAD v4
Xg.54042747C>TCA516566246PHF8c.-19G>A (n.-19G>A)
c.90G>A (p.Thr30=)
Xg.54042748G>ACA413249943PHF8c.-20C>T (n.-20C>T)
c.89C>T (p.Thr30Met)
 dbSNP gnomAD v3 gnomAD v4
Xg.54042748G>CCA413249944PHF8c.-20C>G (n.-20C>G)
c.89C>G (p.Thr30Arg)
Xg.54042748G=CA2430051111PHF8c.-20C= (n.-20C=)
c.89C= (p.Thr30=)
Xg.54042748G>TCA413249945PHF8c.-20C>A (n.-20C>A)
c.89C>A (p.Thr30Lys)
 dbSNP gnomAD v2
Xg.54042749T>ACA413249948PHF8c.-21A>T (n.-21A>T)
c.88A>T (p.Thr30Ser)
Xg.54042749T>CCA413249947PHF8c.-21A>G (n.-21A>G)
c.88A>G (p.Thr30Ala)
Xg.54042749T>GCA413249946PHF8c.-21A>C (n.-21A>C)
c.88A>C (p.Thr30Pro)
Xg.54042750T>ACA413249949PHF8c.-22A>T (n.-22A>T)
c.87A>T (p.Arg29Ser)
Xg.54042750T>CCA516566247PHF8c.-22A>G (n.-22A>G)
c.87A>G (p.Arg29=)
Xg.54042750T>GCA413249950PHF8c.-22A>C (n.-22A>C)
c.87A>C (p.Arg29Ser)
Xg.54042751C>ACA413249951PHF8c.-23G>T (n.-23G>T)
c.86G>T (p.Arg29Ile)
Xg.54042751C>GCA413249952PHF8c.-23G>C (n.-23G>C)
c.86G>C (p.Arg29Thr)
Xg.54042751C>TCA413249953PHF8c.-23G>A (n.-23G>A)
c.86G>A (p.Arg29Lys)
Xg.54042752T>ACA413249955PHF8c.-24A>T (n.-24A>T)
c.85A>T (p.Arg29Ter)
 gnomAD v4
Xg.54042752T>CCA10423698PHF8c.-24A>G (n.-24A>G)
c.85A>G (p.Arg29Gly)
 dbSNP ExAC gnomAD v2
Xg.54042752T>GCA516566248PHF8c.-24A>C (n.-24A>C)
c.85A>C (p.Arg29=)
Xg.54042752T=CA2430051112PHF8c.-24A= (n.-24A=)
c.85A= (p.Arg29=)
Xg.54042753G>ACA516566249PHF8c.-25C>T (n.-25C>T)
c.84C>T (p.Arg28=)
Xg.54042753G>CCA516566250PHF8c.-25C>G (n.-25C>G)
c.84C>G (p.Arg28=)
Xg.54042753G>TCA516566251PHF8c.-25C>A (n.-25C>A)
c.84C>A (p.Arg28=)
Xg.54042754C>ACA413249956PHF8c.-26G>T (n.-26G>T)
c.83G>T (p.Arg28Leu)
 gnomAD v4
Xg.54042754C=CA2430051113PHF8c.-26G= (n.-26G=)
c.83G= (p.Arg28=)
Xg.54042754C>GCA413249957PHF8c.-26G>C (n.-26G>C)
c.83G>C (p.Arg28Pro)
Xg.54042754C>TCA413249958PHF8c.-26G>A (n.-26G>A)
c.83G>A (p.Arg28His)
 dbSNP gnomAD v4
Xg.54042755G>ACA413249959PHF8c.-27C>T (n.-27C>T)
c.82C>T (p.Arg28Cys)
 gnomAD v4
Xg.54042755G>CCA413249960PHF8c.-27C>G (n.-27C>G)
c.82C>G (p.Arg28Gly)
 dbSNP
Xg.54042755G=CA2430051114PHF8c.-27C= (n.-27C=)
c.82C= (p.Arg28=)
Xg.54042755G>TCA413249961PHF8c.-27C>A (n.-27C>A)
c.82C>A (p.Arg28Ser)
 gnomAD v4
Xg.54042756G>ACA516566252PHF8c.-28C>T (n.-28C>T)
c.81C>T (p.Gly27=)
 gnomAD v4
Xg.54042756G>CCA516566253PHF8c.-28C>G (n.-28C>G)
c.81C>G (p.Gly27=)
 dbSNP gnomAD v2 gnomAD v4
Xg.54042756G=CA2430051115PHF8c.-28C= (n.-28C=)
c.81C= (p.Gly27=)
Xg.54042756G>TCA516566254PHF8c.-28C>A (n.-28C>A)
c.81C>A (p.Gly27=)
Xg.54042757C>ACA10423699PHF8c.-29G>T (n.-29G>T)
c.80G>T (p.Gly27Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.54042757C=CA2430051116PHF8c.-29G= (n.-29G=)
c.80G= (p.Gly27=)
Xg.54042757C>GCA413249963PHF8c.-29G>C (n.-29G>C)
c.80G>C (p.Gly27Ala)
Xg.54042757C>TCA413249962PHF8c.-29G>A (n.-29G>A)
c.80G>A (p.Gly27Asp)
 dbSNP
Xg.54042758C>ACA413249964PHF8c.-30G>T (n.-30G>T)
c.79G>T (p.Gly27Cys)
Xg.54042758C>GCA413249966PHF8c.-30G>C (n.-30G>C)
c.79G>C (p.Gly27Arg)
Xg.54042758C>TCA413249965PHF8c.-30G>A (n.-30G>A)
c.79G>A (p.Gly27Ser)
Xg.54042759G>ACA10423700PHF8c.-31C>T (n.-31C>T)
c.78C>T (p.Ala26=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.54042759G>CCA516566255PHF8c.-31C>G (n.-31C>G)
c.78C>G (p.Ala26=)
Xg.54042759G=CA2430051117PHF8c.-31C= (n.-31C=)
c.78C= (p.Ala26=)
Xg.54042759G>TCA516566256PHF8c.-31C>A (n.-31C>A)
c.78C>A (p.Ala26=)
Xg.54042759_54042760insACA2430051118PHF8c.-32_-31insT (n.-32_-31insT)
c.77_78insT (p.Gly27ArgfsTer?)
 dbSNP
Xg.54042760G>ACA413249967PHF8c.-32C>T (n.-32C>T)
c.77C>T (p.Ala26Val)
Xg.54042760G>CCA413249968PHF8c.-32C>G (n.-32C>G)
c.77C>G (p.Ala26Gly)
Xg.54042760G>TCA413249969PHF8c.-32C>A (n.-32C>A)
c.77C>A (p.Ala26Asp)
Xg.54042761C>ACA413249970PHF8c.-33G>T (n.-33G>T)
c.76G>T (p.Ala26Ser)
 dbSNP gnomAD v3 gnomAD v4
Xg.54042761C=CA2430051119PHF8c.-33G= (n.-33G=)
c.76G= (p.Ala26=)
Xg.54042761C>GCA413249971PHF8c.-33G>C (n.-33G>C)
c.76G>C (p.Ala26Pro)
Xg.54042761C>TCA413249972PHF8c.-33G>A (n.-33G>A)
c.76G>A (p.Ala26Thr)
Xg.54042762C>ACA516566257PHF8c.-34G>T (n.-34G>T)
c.75G>T (p.Leu25=)
Xg.54042762C>GCA516566258PHF8c.-34G>C (n.-34G>C)
c.75G>C (p.Leu25=)
Xg.54042762C>TCA516566259PHF8c.-34G>A (n.-34G>A)
c.75G>A (p.Leu25=)
Xg.54042763A>CCA413249973PHF8c.-35T>G (n.-35T>G)
c.74T>G (p.Leu25Arg)
Xg.54042763A>GCA413249974PHF8c.-35T>C (n.-35T>C)
c.74T>C (p.Leu25Pro)
Xg.54042763A>TCA413249975PHF8c.-35T>A (n.-35T>A)
c.74T>A (p.Leu25Gln)
Xg.54042764G>ACA516566260PHF8c.-36C>T (n.-36C>T)
c.73C>T (p.Leu25=)
 gnomAD v4
Xg.54042764G>CCA413249976PHF8c.-36C>G (n.-36C>G)
c.73C>G (p.Leu25Val)
Xg.54042764G>TCA413249977PHF8c.-36C>A (n.-36C>A)
c.73C>A (p.Leu25Met)
 gnomAD v4
Xg.54042765delCA2693831022PHF8c.-36del (n.-36del)
c.73del (p.Leu25TrpfsTer28)
 gnomAD v4
Xg.54042765G>ACA10423701PHF8c.-37C>T (n.-37C>T)
c.72C>T (p.Asn24=)
 dbSNP ExAC gnomAD v2
Xg.54042765G>CCA413249980PHF8c.-37C>G (n.-37C>G)
c.72C>G (p.Asn24Lys)
Xg.54042765G=CA2430051120PHF8c.-37C= (n.-37C=)
c.72C= (p.Asn24=)
Xg.54042765G>TCA413249979PHF8c.-37C>A (n.-37C>A)
c.72C>A (p.Asn24Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.54042766T>ACA413249981PHF8c.-38A>T (n.-38A>T)
c.71A>T (p.Asn24Ile)
Xg.54042766T>CCA413249982PHF8c.-38A>G (n.-38A>G)
c.71A>G (p.Asn24Ser)
Xg.54042766T>GCA413249983PHF8c.-38A>C (n.-38A>C)
c.71A>C (p.Asn24Thr)
Xg.54042767T>ACA413249984PHF8c.-39A>T (n.-39A>T)
c.70A>T (p.Asn24Tyr)
Xg.54042767T>CCA413249985PHF8c.-39A>G (n.-39A>G)
c.70A>G (p.Asn24Asp)
Xg.54042767T>GCA413249986PHF8c.-39A>C (n.-39A>C)
c.70A>C (p.Asn24His)
 gnomAD v4
Xg.54042768C>ACA516566261PHF8c.-40G>T (n.-40G>T)
c.69G>T (p.Thr23=)
Xg.54042768C=CA2430051121PHF8c.-40G= (n.-40G=)
c.69G= (p.Thr23=)
Xg.54042768C>GCA516566262PHF8c.-40G>C (n.-40G>C)
c.69G>C (p.Thr23=)
 COSMIC
Xg.54042768C>TCA516566263PHF8c.-40G>A (n.-40G>A)
c.69G>A (p.Thr23=)
 dbSNP
Xg.54042769G>ACA413249987PHF8c.-41C>T (n.-41C>T)
c.68C>T (p.Thr23Met)
Xg.54042769G>CCA413249988PHF8c.-41C>G (n.-41C>G)
c.68C>G (p.Thr23Arg)
Xg.54042769G>TCA413249989PHF8c.-41C>A (n.-41C>A)
c.68C>A (p.Thr23Lys)
 COSMIC
Xg.54042770T>ACA413249991PHF8c.-42A>T (n.-42A>T)
c.67A>T (p.Thr23Ser)
Xg.54042770T>CCA413249992PHF8c.-42A>G (n.-42A>G)
c.67A>G (p.Thr23Ala)
 dbSNP gnomAD v3 gnomAD v4
Xg.54042770T>GCA413249990PHF8c.-42A>C (n.-42A>C)
c.67A>C (p.Thr23Pro)
 gnomAD v4
Xg.54042770T=CA2430051122PHF8c.-42A= (n.-42A=)
c.67A= (p.Thr23=)
Xg.54042771C>ACA516566265PHF8c.-43G>T (n.-43G>T)
c.66G>T (p.Thr22=)
 gnomAD v4
Xg.54042771C>GCA516566264PHF8c.-43G>C (n.-43G>C)
c.66G>C (p.Thr22=)
Xg.54042771C>TCA516566266PHF8c.-43G>A (n.-43G>A)
c.66G>A (p.Thr22=)
Xg.54042772G>ACA413249993PHF8c.-44C>T (n.-44C>T)
c.65C>T (p.Thr22Met)
 dbSNP
Xg.54042772G>CCA413249994PHF8c.-44C>G (n.-44C>G)
c.65C>G (p.Thr22Arg)
Xg.54042772G=CA2430051123PHF8c.-44C= (n.-44C=)
c.65C= (p.Thr22=)
Xg.54042772G>TCA413249995PHF8c.-44C>A (n.-44C>A)
c.65C>A (p.Thr22Lys)
Xg.54042773T>ACA413249997PHF8c.-45A>T (n.-45A>T)
c.64A>T (p.Thr22Ser)
Xg.54042773T>CCA413249998PHF8c.-45A>G (n.-45A>G)
c.64A>G (p.Thr22Ala)
Xg.54042773T>GCA413250000PHF8c.-45A>C (n.-45A>C)
c.64A>C (p.Thr22Pro)
Xg.54042773_54042774insCTCA413249996PHF8c.-45_-44insGA (n.-45_-44insGA)
c.64_65insGA (p.Thr22ArgfsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.54042774G>ACA516566267PHF8c.-46C>T (n.-46C>T)
c.63C>T (p.Asp21=)
 gnomAD v4
Xg.54042774G>CCA413250002PHF8c.-46C>G (n.-46C>G)
c.63C>G (p.Asp21Glu)
Xg.54042774G>TCA413250004PHF8c.-46C>A (n.-46C>A)
c.63C>A (p.Asp21Glu)
Xg.54042775T>ACA413250006PHF8c.-47A>T (n.-47A>T)
c.62A>T (p.Asp21Val)
Xg.54042775T>CCA10605495PHF8c.-47A>G (n.-47A>G)
c.62A>G (p.Asp21Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.54042775T>GCA413250009PHF8c.-47A>C (n.-47A>C)
c.62A>C (p.Asp21Ala)
Xg.54042775T=CA2430051124PHF8c.-47A= (n.-47A=)
c.62A= (p.Asp21=)
Xg.54042776C>ACA413250014PHF8c.-48G>T (n.-48G>T)
c.61G>T (p.Asp21Tyr)
Xg.54042776C>GCA413250011PHF8c.-48G>C (n.-48G>C)
c.61G>C (p.Asp21His)
Xg.54042776C>TCA413250012PHF8c.-48G>A (n.-48G>A)
c.61G>A (p.Asp21Asn)
Xg.54042777A>CCA516566270PHF8c.-49T>G (n.-49T>G)
c.60T>G (p.Leu20=)
Xg.54042777A>GCA516566268PHF8c.-49T>C (n.-49T>C)
c.60T>C (p.Leu20=)
Xg.54042777A>TCA516566269PHF8c.-49T>A (n.-49T>A)
c.60T>A (p.Leu20=)
Xg.54042778A=CA2430051125PHF8c.-50T= (n.-50T=)
c.59T= (p.Leu20=)
Xg.54042778A>CCA413250018PHF8c.-50T>G (n.-50T>G)
c.59T>G (p.Leu20Arg)
 dbSNP gnomAD v3 gnomAD v4
Xg.54042778A>GCA413250030PHF8c.-50T>C (n.-50T>C)
c.59T>C (p.Leu20Pro)
Xg.54042778A>TCA413250033PHF8c.-50T>A (n.-50T>A)
c.59T>A (p.Leu20His)
Xg.54042779G>ACA10423702PHF8c.-51C>T (n.-51C>T)
c.58C>T (p.Leu20Phe)
 dbSNP ExAC gnomAD v2
Xg.54042779G>CCA413250039PHF8c.-51C>G (n.-51C>G)
c.58C>G (p.Leu20Val)
Xg.54042779G=CA2430051126PHF8c.-51C= (n.-51C=)
c.58C= (p.Leu20=)
Xg.54042779G>TCA413250042PHF8c.-51C>A (n.-51C>A)
c.58C>A (p.Leu20Ile)
Xg.54042780A=CA2430051127PHF8c.-52T= (n.-52T=)
c.57T= (p.Pro19=)
Xg.54042780A>CCA516566271PHF8c.-52T>G (n.-52T>G)
c.57T>G (p.Pro19=)
Xg.54042780A>GCA10423703PHF8c.-52T>C (n.-52T>C)
c.57T>C (p.Pro19=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.54042780A>TCA516566272PHF8c.-52T>A (n.-52T>A)
c.57T>A (p.Pro19=)
Xg.54042781G>ACA413250047PHF8c.-53C>T (n.-53C>T)
c.56C>T (p.Pro19Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.54042781G>CCA413250050PHF8c.-53C>G (n.-53C>G)
c.56C>G (p.Pro19Arg)
Xg.54042781G=CA2430051128PHF8c.-53C= (n.-53C=)
c.56C= (p.Pro19=)
Xg.54042781G>TCA413250053PHF8c.-53C>A (n.-53C>A)
c.56C>A (p.Pro19His)
 gnomAD v4
Xg.54042782G>ACA413250056PHF8c.-54C>T (n.-54C>T)
c.55C>T (p.Pro19Ser)
Xg.54042782G>CCA413250059PHF8c.-54C>G (n.-54C>G)
c.55C>G (p.Pro19Ala)
Xg.54042782G=CA2430051129PHF8c.-54C= (n.-54C=)
c.55C= (p.Pro19=)
Xg.54042782G>TCA413250061PHF8c.-54C>A (n.-54C>A)
c.55C>A (p.Pro19Thr)
 dbSNP gnomAD v2
Xg.54042783G>ACA516566273PHF8c.-55C>T (n.-55C>T)
c.54C>T (p.Ala18=)
 dbSNP gnomAD v2 gnomAD v4
Xg.54042783G>CCA516566274PHF8c.-55C>G (n.-55C>G)
c.54C>G (p.Ala18=)
Xg.54042783G=CA2430051130PHF8c.-55C= (n.-55C=)
c.54C= (p.Ala18=)
Xg.54042783G>TCA516566275PHF8c.-55C>A (n.-55C>A)
c.54C>A (p.Ala18=)
Xg.54042788_54042794delCA2579619970PHF8c.-61_-55del (n.-61_-55del)
c.48_54del (p.Pro17LeufsTer?)
Xg.54042786_54042795delCA2579619971PHF8c.-64_-55del (n.-64_-55del)
c.45_54del (p.Pro16LeufsTer?)
Xg.54042784G>ACA10423704PHF8c.-56C>T (n.-56C>T)
c.53C>T (p.Ala18Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.54042784G>CCA413250070PHF8c.-56C>G (n.-56C>G)
c.53C>G (p.Ala18Gly)
Xg.54042784G=CA2430051131PHF8c.-56C= (n.-56C=)
c.53C= (p.Ala18=)
Xg.54042784G>TCA413250065PHF8c.-56C>A (n.-56C>A)
c.53C>A (p.Ala18Asp)
Xg.54042785C>ACA413250081PHF8c.-57G>T (n.-57G>T)
c.52G>T (p.Ala18Ser)
 gnomAD v4
Xg.54042785C>GCA413250074PHF8c.-57G>C (n.-57G>C)
c.52G>C (p.Ala18Pro)
Xg.54042785C>TCA413250077PHF8c.-57G>A (n.-57G>A)
c.52G>A (p.Ala18Thr)
 gnomAD v4
Xg.54042786G>ACA516566278PHF8c.-58C>T (n.-58C>T)
c.51C>T (p.Pro17=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.54042786G>CCA516566276PHF8c.-58C>G (n.-58C>G)
c.51C>G (p.Pro17=)
Xg.54042786G=CA2430051132PHF8c.-58C= (n.-58C=)
c.51C= (p.Pro17=)
Xg.54042786G>TCA516566277PHF8c.-58C>A (n.-58C>A)
c.51C>A (p.Pro17=)
Xg.54042787G>ACA413250084PHF8c.-59C>T (n.-59C>T)
c.50C>T (p.Pro17Leu)
Xg.54042787G>CCA413250087PHF8c.-59C>G (n.-59C>G)
c.50C>G (p.Pro17Arg)
Xg.54042787G>TCA413250089PHF8c.-59C>A (n.-59C>A)
c.50C>A (p.Pro17His)
Xg.54042788G>ACA413250097PHF8c.-60C>T (n.-60C>T)
c.49C>T (p.Pro17Ser)
 ClinVar dbSNP
Xg.54042788G>CCA413250095PHF8c.-60C>G (n.-60C>G)
c.49C>G (p.Pro17Ala)
Xg.54042788G=CA2430051133PHF8c.-60C= (n.-60C=)
c.49C= (p.Pro17=)
Xg.54042788G>TCA413250093PHF8c.-60C>A (n.-60C>A)
c.49C>A (p.Pro17Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched