Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127421354G>ACA348397814PROCc.142G>A (p.Glu48Lys)
c.107G>A (p.Gly36Glu)
n.225G>A
c.325G>A (p.Glu109Lys)
c.205G>A (p.Glu69Lys)
c.385G>A (p.Glu129Lys)
c.226G>A (p.Glu76Lys)
c.118G>A (p.Glu40Lys)
c.136G>A (p.Glu46Lys)
 gnomAD v4
2g.127421354G>CCA348397816PROCc.142G>C (p.Glu48Gln)
c.107G>C (p.Gly36Ala)
n.225G>C
c.325G>C (p.Glu109Gln)
c.205G>C (p.Glu69Gln)
c.385G>C (p.Glu129Gln)
c.226G>C (p.Glu76Gln)
c.118G>C (p.Glu40Gln)
c.136G>C (p.Glu46Gln)
2g.127421354G>TCA348397817PROCc.142G>T (p.Glu48Ter)
c.107G>T (p.Gly36Val)
n.225G>T
c.325G>T (p.Glu109Ter)
c.205G>T (p.Glu69Ter)
c.385G>T (p.Glu129Ter)
c.226G>T (p.Glu76Ter)
c.118G>T (p.Glu40Ter)
c.136G>T (p.Glu46Ter)
2g.127421355delCA2586969843PROCc.143del (p.Glu48GlyfsTer13)
c.108del (p.Gly37GlufsTer?)
n.226del
c.326del (p.Glu109GlyfsTer13)
c.206del (p.Glu69GlyfsTer13)
c.386del (p.Glu129GlyfsTer13)
c.227del (p.Glu76GlyfsTer13)
c.119del (p.Glu40GlyfsTer13)
c.137del (p.Glu46GlyfsTer13)
2g.127421355A>CCA348397818PROCc.143A>C (p.Glu48Ala)
c.108A>C (p.Gly36=)
n.226A>C
c.326A>C (p.Glu109Ala)
c.206A>C (p.Glu69Ala)
c.386A>C (p.Glu129Ala)
c.227A>C (p.Glu76Ala)
c.119A>C (p.Glu40Ala)
c.137A>C (p.Glu46Ala)
2g.127421355A>GCA348397819PROCc.143A>G (p.Glu48Gly)
c.108A>G (p.Gly36=)
n.226A>G
c.326A>G (p.Glu109Gly)
c.206A>G (p.Glu69Gly)
c.386A>G (p.Glu129Gly)
c.227A>G (p.Glu76Gly)
c.119A>G (p.Glu40Gly)
c.137A>G (p.Glu46Gly)
2g.127421355A>TCA348397820PROCc.143A>T (p.Glu48Val)
c.108A>T (p.Gly36=)
n.226A>T
c.326A>T (p.Glu109Val)
c.206A>T (p.Glu69Val)
c.386A>T (p.Glu129Val)
c.227A>T (p.Glu76Val)
c.119A>T (p.Glu40Val)
c.137A>T (p.Glu46Val)
2g.127421356G>ACA428617411PROCc.144G>A (p.Glu48=)
c.109G>A (p.Gly37Arg)
n.227G>A
c.327G>A (p.Glu109=)
c.207G>A (p.Glu69=)
c.387G>A (p.Glu129=)
c.228G>A (p.Glu76=)
c.120G>A (p.Glu40=)
c.138G>A (p.Glu46=)
 ClinVar
2g.127421356G>CCA348397822PROCc.144G>C (p.Glu48Asp)
c.109G>C (p.Gly37Arg)
n.227G>C
c.327G>C (p.Glu109Asp)
c.207G>C (p.Glu69Asp)
c.387G>C (p.Glu129Asp)
c.228G>C (p.Glu76Asp)
c.120G>C (p.Glu40Asp)
c.138G>C (p.Glu46Asp)
2g.127421356G>TCA348397823PROCc.144G>T (p.Glu48Asp)
c.109G>T (p.Gly37Ter)
n.227G>T
c.327G>T (p.Glu109Asp)
c.207G>T (p.Glu69Asp)
c.387G>T (p.Glu129Asp)
c.228G>T (p.Glu76Asp)
c.120G>T (p.Glu40Asp)
c.138G>T (p.Glu46Asp)
2g.127421357G>ACA348397830PROCc.145G>A (p.Glu49Lys)
c.110G>A (p.Gly37Glu)
n.228G>A
c.328G>A (p.Glu110Lys)
c.208G>A (p.Glu70Lys)
c.388G>A (p.Glu130Lys)
c.229G>A (p.Glu77Lys)
c.121G>A (p.Glu41Lys)
c.139G>A (p.Glu47Lys)
2g.127421357G>CCA348397826PROCc.145G>C (p.Glu49Gln)
c.110G>C (p.Gly37Ala)
n.228G>C
c.328G>C (p.Glu110Gln)
c.208G>C (p.Glu70Gln)
c.388G>C (p.Glu130Gln)
c.229G>C (p.Glu77Gln)
c.121G>C (p.Glu41Gln)
c.139G>C (p.Glu47Gln)
2g.127421357G>TCA348397828PROCc.145G>T (p.Glu49Ter)
c.110G>T (p.Gly37Val)
n.228G>T
c.328G>T (p.Glu110Ter)
c.208G>T (p.Glu70Ter)
c.388G>T (p.Glu130Ter)
c.229G>T (p.Glu77Ter)
c.121G>T (p.Glu41Ter)
c.139G>T (p.Glu47Ter)
2g.127421358A>CCA348397838PROCc.146A>C (p.Glu49Ala)
c.111A>C (p.Gly37=)
n.229A>C
c.329A>C (p.Glu110Ala)
c.209A>C (p.Glu70Ala)
c.389A>C (p.Glu130Ala)
c.230A>C (p.Glu77Ala)
c.122A>C (p.Glu41Ala)
c.140A>C (p.Glu47Ala)
2g.127421358A>GCA348397839PROCc.146A>G (p.Glu49Gly)
c.111A>G (p.Gly37=)
n.229A>G
c.329A>G (p.Glu110Gly)
c.209A>G (p.Glu70Gly)
c.389A>G (p.Glu130Gly)
c.230A>G (p.Glu77Gly)
c.122A>G (p.Glu41Gly)
c.140A>G (p.Glu47Gly)
2g.127421358A>TCA348397841PROCc.146A>T (p.Glu49Val)
c.111A>T (p.Gly37=)
n.229A>T
c.329A>T (p.Glu110Val)
c.209A>T (p.Glu70Val)
c.389A>T (p.Glu130Val)
c.230A>T (p.Glu77Val)
c.122A>T (p.Glu41Val)
c.140A>T (p.Glu47Val)
2g.127421359G>ACA428617414PROCc.147G>A (p.Glu49=)
c.112G>A (p.Ala38Thr)
n.230G>A
c.330G>A (p.Glu110=)
c.210G>A (p.Glu70=)
c.390G>A (p.Glu130=)
c.231G>A (p.Glu77=)
c.123G>A (p.Glu41=)
c.141G>A (p.Glu47=)
2g.127421359G>CCA348397843PROCc.147G>C (p.Glu49Asp)
c.112G>C (p.Ala38Pro)
n.230G>C
c.330G>C (p.Glu110Asp)
c.210G>C (p.Glu70Asp)
c.390G>C (p.Glu130Asp)
c.231G>C (p.Glu77Asp)
c.123G>C (p.Glu41Asp)
c.141G>C (p.Glu47Asp)
2g.127421359G>TCA348397844PROCc.147G>T (p.Glu49Asp)
c.112G>T (p.Ala38Ser)
n.230G>T
c.330G>T (p.Glu110Asp)
c.210G>T (p.Glu70Asp)
c.390G>T (p.Glu130Asp)
c.231G>T (p.Glu77Asp)
c.123G>T (p.Glu41Asp)
c.141G>T (p.Glu47Asp)
2g.127421360C>ACA348397849PROCc.148C>A (p.Leu50Ile)
c.113C>A (p.Ala38Asp)
n.231C>A
c.331C>A (p.Leu111Ile)
c.211C>A (p.Leu71Ile)
c.391C>A (p.Leu131Ile)
c.232C>A (p.Leu78Ile)
c.124C>A (p.Leu42Ile)
c.142C>A (p.Leu48Ile)
2g.127421360C>GCA348397846PROCc.148C>G (p.Leu50Val)
c.113C>G (p.Ala38Gly)
n.231C>G
c.331C>G (p.Leu111Val)
c.211C>G (p.Leu71Val)
c.391C>G (p.Leu131Val)
c.232C>G (p.Leu78Val)
c.124C>G (p.Leu42Val)
c.142C>G (p.Leu48Val)
2g.127421360C>TCA348397845PROCc.148C>T (p.Leu50Phe)
c.113C>T (p.Ala38Val)
n.231C>T
c.331C>T (p.Leu111Phe)
c.211C>T (p.Leu71Phe)
c.391C>T (p.Leu131Phe)
c.232C>T (p.Leu78Phe)
c.124C>T (p.Leu42Phe)
c.142C>T (p.Leu48Phe)
2g.127421361_127421363delCA2660995666PROCc.149_151del (p.Leu50del)
c.114_116del (p.Pro39del)
n.232_234del
c.332_334del (p.Leu111del)
c.212_214del (p.Leu71del)
c.392_394del (p.Leu131del)
c.233_235del (p.Leu78del)
c.125_127del (p.Leu42del)
c.143_145del (p.Leu48del)
 gnomAD v4
2g.127421361T>ACA348397853PROCc.149T>A (p.Leu50His)
c.114T>A (p.Ala38=)
n.232T>A
c.332T>A (p.Leu111His)
c.212T>A (p.Leu71His)
c.392T>A (p.Leu131His)
c.233T>A (p.Leu78His)
c.125T>A (p.Leu42His)
c.143T>A (p.Leu48His)
2g.127421361T>CCA348397856PROCc.149T>C (p.Leu50Pro)
c.114T>C (p.Ala38=)
n.232T>C
c.332T>C (p.Leu111Pro)
c.212T>C (p.Leu71Pro)
c.392T>C (p.Leu131Pro)
c.233T>C (p.Leu78Pro)
c.125T>C (p.Leu42Pro)
c.143T>C (p.Leu48Pro)
2g.127421361T>GCA348397857PROCc.149T>G (p.Leu50Arg)
c.114T>G (p.Ala38=)
n.232T>G
c.332T>G (p.Leu111Arg)
c.212T>G (p.Leu71Arg)
c.392T>G (p.Leu131Arg)
c.233T>G (p.Leu78Arg)
c.125T>G (p.Leu42Arg)
c.143T>G (p.Leu48Arg)
2g.127421362C>ACA428617422PROCc.150C>A (p.Leu50=)
c.115C>A (p.Pro39Thr)
n.233C>A
c.333C>A (p.Leu111=)
c.213C>A (p.Leu71=)
c.393C>A (p.Leu131=)
c.234C>A (p.Leu78=)
c.126C>A (p.Leu42=)
c.144C>A (p.Leu48=)
2g.127421362C=CA1286880802PROCc.150C= (p.Leu50=)
c.115C= (p.Pro39=)
n.233C=
c.333C= (p.Leu111=)
c.213C= (p.Leu71=)
c.393C= (p.Leu131=)
c.234C= (p.Leu78=)
c.126C= (p.Leu42=)
c.144C= (p.Leu48=)
2g.127421362C>GCA428617423PROCc.150C>G (p.Leu50=)
c.115C>G (p.Pro39Ala)
n.233C>G
c.333C>G (p.Leu111=)
c.213C>G (p.Leu71=)
c.393C>G (p.Leu131=)
c.234C>G (p.Leu78=)
c.126C>G (p.Leu42=)
c.144C>G (p.Leu48=)
2g.127421362C>TCA428617424PROCc.150C>T (p.Leu50=)
c.115C>T (p.Pro39Ser)
n.233C>T
c.333C>T (p.Leu111=)
c.213C>T (p.Leu71=)
c.393C>T (p.Leu131=)
c.234C>T (p.Leu78=)
c.126C>T (p.Leu42=)
c.144C>T (p.Leu48=)
 dbSNP gnomAD v2 gnomAD v4
2g.127421363C>ACA348397859PROCc.151C>A (p.Arg51Ser)
c.116C>A (p.Pro39Gln)
n.234C>A
c.334C>A (p.Arg112Ser)
c.214C>A (p.Arg72Ser)
c.394C>A (p.Arg132Ser)
c.235C>A (p.Arg79Ser)
c.127C>A (p.Arg43Ser)
c.145C>A (p.Arg49Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.127421363C=CA1286880821PROCc.151C= (p.Arg51=)
c.116C= (p.Pro39=)
n.234C=
c.334C= (p.Arg112=)
c.214C= (p.Arg72=)
c.394C= (p.Arg132=)
c.235C= (p.Arg79=)
c.127C= (p.Arg43=)
c.145C= (p.Arg49=)
2g.127421363C>GCA348397860PROCc.151C>G (p.Arg51Gly)
c.116C>G (p.Pro39Arg)
n.234C>G
c.334C>G (p.Arg112Gly)
c.214C>G (p.Arg72Gly)
c.394C>G (p.Arg132Gly)
c.235C>G (p.Arg79Gly)
c.127C>G (p.Arg43Gly)
c.145C>G (p.Arg49Gly)
2g.127421363C>TCA1859249PROCc.151C>T (p.Arg51Cys)
c.116C>T (p.Pro39Leu)
n.234C>T
c.334C>T (p.Arg112Cys)
c.214C>T (p.Arg72Cys)
c.394C>T (p.Arg132Cys)
c.235C>T (p.Arg79Cys)
c.127C>T (p.Arg43Cys)
c.145C>T (p.Arg49Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127421364G>ACA348397861PROCc.152G>A (p.Arg51His)
c.117G>A (p.Pro39=)
n.235G>A
c.335G>A (p.Arg112His)
c.215G>A (p.Arg72His)
c.395G>A (p.Arg132His)
c.236G>A (p.Arg79His)
c.128G>A (p.Arg43His)
c.146G>A (p.Arg49His)
 dbSNP gnomAD v4
2g.127421364G>CCA348397867PROCc.152G>C (p.Arg51Pro)
c.117G>C (p.Pro39=)
n.235G>C
c.335G>C (p.Arg112Pro)
c.215G>C (p.Arg72Pro)
c.395G>C (p.Arg132Pro)
c.236G>C (p.Arg79Pro)
c.128G>C (p.Arg43Pro)
c.146G>C (p.Arg49Pro)
2g.127421364G=CA1286880825PROCc.152G= (p.Arg51=)
c.117G= (p.Pro39=)
n.235G=
c.335G= (p.Arg112=)
c.215G= (p.Arg72=)
c.395G= (p.Arg132=)
c.236G= (p.Arg79=)
c.128G= (p.Arg43=)
c.146G= (p.Arg49=)
2g.127421364G>TCA348397865PROCc.152G>T (p.Arg51Leu)
c.117G>T (p.Pro39=)
n.235G>T
c.335G>T (p.Arg112Leu)
c.215G>T (p.Arg72Leu)
c.395G>T (p.Arg132Leu)
c.236G>T (p.Arg79Leu)
c.128G>T (p.Arg43Leu)
c.146G>T (p.Arg49Leu)
2g.127421364_127421365delinsGTCA1286880824PROCc.152_153delinsGT (p.Arg51=)
c.117_118delinsGT (p.Pro39=)
n.235_236delinsGT
c.335_336delinsGT (p.Arg112=)
c.215_216delinsGT (p.Arg72=)
c.395_396delinsGT (p.Arg132=)
c.236_237delinsGT (p.Arg79=)
c.128_129delinsGT (p.Arg43=)
c.146_147delinsGT (p.Arg49=)
2g.127421365delCA756625605PROCc.153del (p.His52ThrfsTer9)
c.118del (p.Ser40HisfsTer?)
n.236del
c.336del (p.His113ThrfsTer9)
c.216del (p.His73ThrfsTer9)
c.396del (p.His133ThrfsTer9)
c.237del (p.His80ThrfsTer9)
c.129del (p.His44ThrfsTer9)
c.147del (p.His50ThrfsTer9)
 dbSNP gnomAD v3 gnomAD v4
2g.127421365T>ACA428617426PROCc.153T>A (p.Arg51=)
c.118T>A (p.Ser40Thr)
n.236T>A
c.336T>A (p.Arg112=)
c.216T>A (p.Arg72=)
c.396T>A (p.Arg132=)
c.237T>A (p.Arg79=)
c.129T>A (p.Arg43=)
c.147T>A (p.Arg49=)
 gnomAD v4
2g.127421365T>CCA428617427PROCc.153T>C (p.Arg51=)
c.118T>C (p.Ser40Pro)
n.236T>C
c.336T>C (p.Arg112=)
c.216T>C (p.Arg72=)
c.396T>C (p.Arg132=)
c.237T>C (p.Arg79=)
c.129T>C (p.Arg43=)
c.147T>C (p.Arg49=)
2g.127421365T>GCA428617428PROCc.153T>G (p.Arg51=)
c.118T>G (p.Ser40Ala)
n.236T>G
c.336T>G (p.Arg112=)
c.216T>G (p.Arg72=)
c.396T>G (p.Arg132=)
c.237T>G (p.Arg79=)
c.129T>G (p.Arg43=)
c.147T>G (p.Arg49=)
2g.127421365_127421366insGCA2660995691PROCc.153_154insG (p.His52AlafsTer14)
c.118_119insG (p.Ser40CysfsTer10)
n.236_237insG
c.336_337insG (p.His113AlafsTer14)
c.216_217insG (p.His73AlafsTer14)
c.396_397insG (p.His133AlafsTer14)
c.237_238insG (p.His80AlafsTer14)
c.129_130insG (p.His44AlafsTer14)
c.147_148insG (p.His50AlafsTer14)
 gnomAD v4
2g.127421366C>ACA348397869PROCc.154C>A (p.His52Asn)
c.119C>A (p.Ser40Ter)
n.237C>A
c.337C>A (p.His113Asn)
c.217C>A (p.His73Asn)
c.397C>A (p.His133Asn)
c.238C>A (p.His80Asn)
c.130C>A (p.His44Asn)
c.148C>A (p.His50Asn)
2g.127421366C>GCA348397871PROCc.154C>G (p.His52Asp)
c.119C>G (p.Ser40Ter)
n.237C>G
c.337C>G (p.His113Asp)
c.217C>G (p.His73Asp)
c.397C>G (p.His133Asp)
c.238C>G (p.His80Asp)
c.130C>G (p.His44Asp)
c.148C>G (p.His50Asp)
2g.127421366C>TCA348397872PROCc.154C>T (p.His52Tyr)
c.119C>T (p.Ser40Leu)
n.237C>T
c.337C>T (p.His113Tyr)
c.217C>T (p.His73Tyr)
c.397C>T (p.His133Tyr)
c.238C>T (p.His80Tyr)
c.130C>T (p.His44Tyr)
c.148C>T (p.His50Tyr)
2g.127421367A>CCA348397873PROCc.155A>C (p.His52Pro)
c.120A>C (p.Ser40=)
n.238A>C
c.338A>C (p.His113Pro)
c.218A>C (p.His73Pro)
c.398A>C (p.His133Pro)
c.239A>C (p.His80Pro)
c.131A>C (p.His44Pro)
c.149A>C (p.His50Pro)
2g.127421367A>GCA348397875PROCc.155A>G (p.His52Arg)
c.120A>G (p.Ser40=)
n.238A>G
c.338A>G (p.His113Arg)
c.218A>G (p.His73Arg)
c.398A>G (p.His133Arg)
c.239A>G (p.His80Arg)
c.131A>G (p.His44Arg)
c.149A>G (p.His50Arg)
2g.127421367A>TCA348397878PROCc.155A>T (p.His52Leu)
c.120A>T (p.Ser40=)
n.238A>T
c.338A>T (p.His113Leu)
c.218A>T (p.His73Leu)
c.398A>T (p.His133Leu)
c.239A>T (p.His80Leu)
c.131A>T (p.His44Leu)
c.149A>T (p.His50Leu)

Number of alleles fetched