Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.130592862T>ACA348502124CFC1c.*15A>T (n.*15A>T)
c.572A>T (p.Lys191Ile)
2g.130592862T>CCA348502122CFC1c.*15A>G (n.*15A>G)
c.572A>G (p.Lys191Arg)
2g.130592862T>GCA348502123CFC1c.*15A>C (n.*15A>C)
c.572A>C (p.Lys191Thr)
2g.130592863T>ACA348502125CFC1c.*14A>T (n.*14A>T)
c.571A>T (p.Lys191Ter)
2g.130592863T>CCA348502126CFC1c.*14A>G (n.*14A>G)
c.571A>G (p.Lys191Glu)
 dbSNP gnomAD v4
2g.130592863T>GCA348502127CFC1c.*14A>C (n.*14A>C)
c.571A>C (p.Lys191Gln)
2g.130592863T=CA1288363426CFC1c.*14A= (n.*14A=)
c.571A= (p.Lys191=)
2g.130592864A=CA1288363427CFC1c.*13T= (n.*13T=)
c.570T= (p.Cys190=)
2g.130592864A>CCA348502128CFC1c.*13T>G (n.*13T>G)
c.570T>G (p.Cys190Trp)
2g.130592864A>GCA1288363428CFC1c.*13T>C (n.*13T>C)
c.570T>C (p.Cys190=)
 dbSNP gnomAD v4
2g.130592864A>TCA348502129CFC1c.*13T>A (n.*13T>A)
c.570T>A (p.Cys190Ter)
 gnomAD v4
2g.130592865C>ACA348502130CFC1c.*12G>T (n.*12G>T)
c.569G>T (p.Cys190Phe)
2g.130592865C>GCA348502131CFC1c.*12G>C (n.*12G>C)
c.569G>C (p.Cys190Ser)
2g.130592865C>TCA348502132CFC1c.*12G>A (n.*12G>A)
c.569G>A (p.Cys190Tyr)
2g.130592866A=CA1288363429CFC1c.*11T= (n.*11T=)
c.568T= (p.Cys190=)
2g.130592866A>CCA348502133CFC1c.*11T>G (n.*11T>G)
c.568T>G (p.Cys190Gly)
2g.130592866A>GCA348502134CFC1c.*11T>C (n.*11T>C)
c.568T>C (p.Cys190Arg)
 dbSNP gnomAD v4
2g.130592866A>TCA348502135CFC1c.*11T>A (n.*11T>A)
c.568T>A (p.Cys190Ser)
2g.130592866_130592867delCA2661125012CFC1c.*10_*11del (n.*10_*11del)
c.567_568del (p.Cys189TrpfsTer2)
 gnomAD v4
2g.130592867A=CA1288363430CFC1c.*10T= (n.*10T=)
c.567T= (p.Cys189=)
2g.130592867A>CCA348502136CFC1c.*10T>G (n.*10T>G)
c.567T>G (p.Cys189Trp)
2g.130592867A>GCA536070252CFC1c.*10T>C (n.*10T>C)
c.567T>C (p.Cys189=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592867A>TCA348502137CFC1c.*10T>A (n.*10T>A)
c.567T>A (p.Cys189Ter)
2g.130592868C>ACA348502140CFC1c.*9G>T (n.*9G>T)
c.566G>T (p.Cys189Phe)
2g.130592868C>GCA348502139CFC1c.*9G>C (n.*9G>C)
c.566G>C (p.Cys189Ser)
2g.130592868C>TCA348502138CFC1c.*9G>A (n.*9G>A)
c.566G>A (p.Cys189Tyr)
2g.130592869A>CCA348502141CFC1c.*8T>G (n.*8T>G)
c.565T>G (p.Cys189Gly)
2g.130592869A>GCA348502142CFC1c.*8T>C (n.*8T>C)
c.565T>C (p.Cys189Arg)
2g.130592869A>TCA348502143CFC1c.*8T>A (n.*8T>A)
c.565T>A (p.Cys189Ser)
2g.130592870T>CCA536070253CFC1c.*7A>G (n.*7A>G)
c.564A>G (p.Leu188=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592870T>GCA2569762436CFC1c.*7A>C (n.*7A>C)
c.564A>C (p.Leu188=)
 gnomAD v4
2g.130592870T=CA1288363431CFC1c.*7A= (n.*7A=)
c.564A= (p.Leu188=)
2g.130592871A>CCA348502144CFC1c.*6T>G (n.*6T>G)
c.563T>G (p.Leu188Arg)
2g.130592871A>GCA348502145CFC1c.*6T>C (n.*6T>C)
c.563T>C (p.Leu188Pro)
2g.130592871A>TCA348502146CFC1c.*6T>A (n.*6T>A)
c.563T>A (p.Leu188Gln)
2g.130592872G>CCA348502147CFC1c.*5C>G (n.*5C>G)
c.562C>G (p.Leu188Val)
2g.130592872G>TCA348502148CFC1c.*5C>A (n.*5C>A)
c.562C>A (p.Leu188Ile)
2g.130592873A>CCA348502149CFC1c.*4T>G (n.*4T>G)
c.561T>G (p.Phe187Leu)
2g.130592873A>TCA348502150CFC1c.*4T>A (n.*4T>A)
c.561T>A (p.Phe187Leu)
2g.130592874A>CCA348502151CFC1c.*3T>G (n.*3T>G)
c.560T>G (p.Phe187Cys)
 gnomAD v4
2g.130592874A>GCA348502152CFC1c.*3T>C (n.*3T>C)
c.560T>C (p.Phe187Ser)
2g.130592874A>TCA348502153CFC1c.*3T>A (n.*3T>A)
c.560T>A (p.Phe187Tyr)
2g.130592875A>CCA348502155CFC1c.*2T>G (n.*2T>G)
c.559T>G (p.Phe187Val)
2g.130592875A>GCA348502156CFC1c.*2T>C (n.*2T>C)
c.559T>C (p.Phe187Leu)
2g.130592875A>TCA348502154CFC1c.*2T>A (n.*2T>A)
c.559T>A (p.Phe187Ile)
2g.130592876A=CA1288363432CFC1c.*1T= (n.*1T=)
c.558T= (p.Asn186=)
2g.130592876A>CCA348502157CFC1c.*1T>G (n.*1T>G)
c.558T>G (p.Asn186Lys)
2g.130592876A>GCA536070254CFC1c.*1T>C (n.*1T>C)
c.558T>C (p.Asn186=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592876A>TCA348502158CFC1c.*1T>A (n.*1T>A)
c.558T>A (p.Asn186Lys)
2g.130592877T>ACA348502159CFC1c.672A>T (p.Ter224Tyr)
c.557A>T (p.Asn186Ile)
c.447A>T (p.Ter149Tyr)
2g.130592877T>CCA348502160CFC1c.672A>G (p.Ter224=)
c.557A>G (p.Asn186Ser)
c.447A>G (p.Ter149=)
2g.130592877T>GCA348502161CFC1c.672A>C (p.Ter224Tyr)
c.557A>C (p.Asn186Thr)
c.447A>C (p.Ter149Tyr)
2g.130592878T>ACA348502162CFC1c.671A>T (p.Ter224Leu)
c.556A>T (p.Asn186Tyr)
c.446A>T (p.Ter149Leu)
2g.130592878T>CCA348502163CFC1c.671A>G (p.Ter224=)
c.556A>G (p.Asn186Asp)
c.446A>G (p.Ter149=)
2g.130592878T>GCA348502164CFC1c.671A>C (p.Ter224Ser)
c.556A>C (p.Asn186His)
c.446A>C (p.Ter149Ser)
 gnomAD v4
2g.130592879A=CA1288363433CFC1c.670T= (p.Ter224=)
c.555T= (p.Phe185=)
c.445T= (p.Ter149=)
2g.130592879A>CCA348502165CFC1c.670T>G (p.Ter224Glu)
c.555T>G (p.Phe185Leu)
c.445T>G (p.Ter149Glu)
2g.130592879A>GCA348502166CFC1c.670T>C (p.Ter224Gln)
c.555T>C (p.Phe185=)
c.445T>C (p.Ter149Gln)
 dbSNP gnomAD v4
2g.130592879A>TCA348502167CFC1c.670T>A (p.Ter224Lys)
c.555T>A (p.Phe185Leu)
c.445T>A (p.Ter149Lys)
2g.130592880A>CCA348502168CFC1c.669T>G (p.Leu223=)
c.554T>G (p.Phe185Cys)
c.444T>G (p.Leu148=)
2g.130592880A>GCA348502169CFC1c.669T>C (p.Leu223=)
c.554T>C (p.Phe185Ser)
c.444T>C (p.Leu148=)
2g.130592880A>TCA348502170CFC1c.669T>A (p.Leu223=)
c.554T>A (p.Phe185Tyr)
c.444T>A (p.Leu148=)
2g.130592881A>CCA348502173CFC1c.668T>G (p.Leu223Arg)
c.553T>G (p.Phe185Val)
c.443T>G (p.Leu148Arg)
2g.130592881A>GCA348502172CFC1c.668T>C (p.Leu223Pro)
c.553T>C (p.Phe185Leu)
c.443T>C (p.Leu148Pro)
2g.130592881A>TCA348502171CFC1c.668T>A (p.Leu223His)
c.553T>A (p.Phe185Ile)
c.443T>A (p.Leu148His)
2g.130592882G>ACA348502174CFC1c.667C>T (p.Leu223Phe)
c.552C>T (p.Ala184=)
c.442C>T (p.Leu148Phe)
 dbSNP gnomAD v4
2g.130592882G>CCA348502175CFC1c.667C>G (p.Leu223Val)
c.552C>G (p.Ala184=)
c.442C>G (p.Leu148Val)
2g.130592882G=CA1288363434CFC1c.667C= (p.Leu223=)
c.552C= (p.Ala184=)
c.442C= (p.Leu148=)
2g.130592882G>TCA348502176CFC1c.667C>A (p.Leu223Ile)
c.552C>A (p.Ala184=)
c.442C>A (p.Leu148Ile)
2g.130592883G>ACA348502177CFC1c.666C>T (p.Arg222=)
c.551C>T (p.Ala184Val)
c.441C>T (p.Arg147=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592883G>CCA348502178CFC1c.666C>G (p.Arg222=)
c.551C>G (p.Ala184Gly)
c.441C>G (p.Arg147=)
2g.130592883G=CA1288363435CFC1c.666C= (p.Arg222=)
c.551C= (p.Ala184=)
c.441C= (p.Arg147=)
2g.130592883G>TCA348502179CFC1c.666C>A (p.Arg222=)
c.551C>A (p.Ala184Asp)
c.441C>A (p.Arg147=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592884C>ACA348502180CFC1c.665G>T (p.Arg222Leu)
c.550G>T (p.Ala184Ser)
c.440G>T (p.Arg147Leu)
2g.130592884C=CA1288363436CFC1c.665G= (p.Arg222=)
c.550G= (p.Ala184=)
c.440G= (p.Arg147=)
2g.130592884C>GCA348502181CFC1c.665G>C (p.Arg222Pro)
c.550G>C (p.Ala184Pro)
c.440G>C (p.Arg147Pro)
 gnomAD v4
2g.130592884C>TCA348502182CFC1c.665G>A (p.Arg222His)
c.550G>A (p.Ala184Thr)
c.440G>A (p.Arg147His)
 dbSNP gnomAD v3 gnomAD v4
2g.130592885G>ACA348502183CFC1c.664C>T (p.Arg222Cys)
c.549C>T (p.Ile183=)
c.439C>T (p.Arg147Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592885G>CCA348502184CFC1c.664C>G (p.Arg222Gly)
c.549C>G (p.Ile183Met)
c.439C>G (p.Arg147Gly)
2g.130592885G=CA1288363437CFC1c.664C= (p.Arg222=)
c.549C= (p.Ile183=)
c.439C= (p.Arg147=)
2g.130592885G>TCA348502185CFC1c.664C>A (p.Arg222Ser)
c.549C>A (p.Ile183=)
c.439C>A (p.Arg147Ser)
2g.130592886A>CCA348502188CFC1c.663T>G (p.His221Gln)
c.548T>G (p.Ile183Ser)
c.438T>G (p.His146Gln)
 gnomAD v4
2g.130592886A>GCA348502187CFC1c.663T>C (p.His221=)
c.548T>C (p.Ile183Thr)
c.438T>C (p.His146=)
2g.130592886A>TCA348502186CFC1c.663T>A (p.His221Gln)
c.548T>A (p.Ile183Asn)
c.438T>A (p.His146Gln)
2g.130592887T>ACA348502189CFC1c.662A>T (p.His221Leu)
c.547A>T (p.Ile183Phe)
c.437A>T (p.His146Leu)
2g.130592887T>CCA348502190CFC1c.662A>G (p.His221Arg)
c.547A>G (p.Ile183Val)
c.437A>G (p.His146Arg)
2g.130592887T>GCA348502191CFC1c.662A>C (p.His221Pro)
c.547A>C (p.Ile183Leu)
c.437A>C (p.His146Pro)
2g.130592888G>ACA348502192CFC1c.661C>T (p.His221Tyr)
c.546C>T (p.Gly182=)
c.436C>T (p.His146Tyr)
2g.130592888G>CCA348502193CFC1c.661C>G (p.His221Asp)
c.546C>G (p.Gly182=)
c.436C>G (p.His146Asp)
2g.130592888G>TCA348502194CFC1c.661C>A (p.His221Asn)
c.546C>A (p.Gly182=)
c.436C>A (p.His146Asn)
2g.130592890_130592925delCA2661125013CFC1c.626_661del (p.Arg209_Gly220del)
c.511_546del (p.Gly171_Gly182del)
c.401_436del (p.Arg134_Gly145del)
 gnomAD v4
2g.130592889C>ACA348502195CFC1c.660G>T (p.Gly220=)
c.545G>T (p.Gly182Val)
c.435G>T (p.Gly145=)
2g.130592889C>GCA348502196CFC1c.660G>C (p.Gly220=)
c.545G>C (p.Gly182Ala)
c.435G>C (p.Gly145=)
2g.130592889C>TCA348502197CFC1c.660G>A (p.Gly220=)
c.545G>A (p.Gly182Asp)
c.435G>A (p.Gly145=)
2g.130592890C>ACA348502198CFC1c.659G>T (p.Gly220Val)
c.544G>T (p.Gly182Cys)
c.434G>T (p.Gly145Val)
 gnomAD v3 gnomAD v4
2g.130592890C>GCA348502199CFC1c.659G>C (p.Gly220Ala)
c.544G>C (p.Gly182Arg)
c.434G>C (p.Gly145Ala)
2g.130592890C>TCA348502200CFC1c.659G>A (p.Gly220Glu)
c.544G>A (p.Gly182Ser)
c.434G>A (p.Gly145Glu)
2g.130592891C>ACA348502203CFC1c.658G>T (p.Gly220Trp)
c.543G>T (p.Leu181Phe)
c.433G>T (p.Gly145Trp)
2g.130592891C>GCA348502202CFC1c.658G>C (p.Gly220Arg)
c.543G>C (p.Leu181Phe)
c.433G>C (p.Gly145Arg)
2g.130592891C>TCA348502201CFC1c.658G>A (p.Gly220Arg)
c.543G>A (p.Leu181=)
c.433G>A (p.Gly145Arg)
2g.130592892A>CCA348502204CFC1c.657T>G (p.Leu219=)
c.542T>G (p.Leu181Trp)
c.432T>G (p.Leu144=)
 gnomAD v3 gnomAD v4
2g.130592892A>GCA348502205CFC1c.657T>C (p.Leu219=)
c.542T>C (p.Leu181Ser)
c.432T>C (p.Leu144=)
2g.130592892A>TCA348502206CFC1c.657T>A (p.Leu219=)
c.542T>A (p.Leu181Ter)
c.432T>A (p.Leu144=)
2g.130592893A>CCA348502207CFC1c.656T>G (p.Leu219Arg)
c.541T>G (p.Leu181Val)
c.431T>G (p.Leu144Arg)
2g.130592893A>GCA348502208CFC1c.656T>C (p.Leu219Pro)
c.541T>C (p.Leu181=)
c.431T>C (p.Leu144Pro)
2g.130592893A>TCA348502209CFC1c.656T>A (p.Leu219His)
c.541T>A (p.Leu181Met)
c.431T>A (p.Leu144His)
2g.130592894G>ACA348502210CFC1c.655C>T (p.Leu219Phe)
c.540C>T (p.Asp180=)
c.430C>T (p.Leu144Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.130592894G>CCA348502211CFC1c.655C>G (p.Leu219Val)
c.540C>G (p.Asp180Glu)
c.430C>G (p.Leu144Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592894G=CA1288363438CFC1c.655C= (p.Leu219=)
c.540C= (p.Asp180=)
c.430C= (p.Leu144=)
2g.130592894G>TCA348502212CFC1c.655C>A (p.Leu219Ile)
c.540C>A (p.Asp180Glu)
c.430C>A (p.Leu144Ile)
2g.130592894_130592900delCA2661125014CFC1c.649_655del (p.Pro217LeufsTer12)
c.534_540del (p.Arg179TrpfsTer16)
c.424_430del (p.Pro142LeufsTer12)
 gnomAD v4
2g.130592895T>ACA348502213CFC1c.654A>T (p.Gly218=)
c.539A>T (p.Asp180Val)
c.429A>T (p.Gly143=)
2g.130592895T>CCA348502214CFC1c.654A>G (p.Gly218=)
c.539A>G (p.Asp180Gly)
c.429A>G (p.Gly143=)
2g.130592895T>GCA348502215CFC1c.654A>C (p.Gly218=)
c.539A>C (p.Asp180Ala)
c.429A>C (p.Gly143=)
2g.130592896C>ACA348502216CFC1c.653G>T (p.Gly218Val)
c.538G>T (p.Asp180Tyr)
c.428G>T (p.Gly143Val)
 dbSNP
2g.130592896C=CA1288363439CFC1c.653G= (p.Gly218=)
c.538G= (p.Asp180=)
c.428G= (p.Gly143=)
2g.130592896C>GCA348502218CFC1c.653G>C (p.Gly218Ala)
c.538G>C (p.Asp180His)
c.428G>C (p.Gly143Ala)
2g.130592896C>TCA348502217CFC1c.653G>A (p.Gly218Glu)
c.538G>A (p.Asp180Asn)
c.428G>A (p.Gly143Glu)
 gnomAD v4
2g.130592897C>ACA348502219CFC1c.652G>T (p.Gly218Ter)
c.537G>T (p.Arg179=)
c.427G>T (p.Gly143Ter)
2g.130592897C>GCA348502221CFC1c.652G>C (p.Gly218Arg)
c.537G>C (p.Arg179=)
c.427G>C (p.Gly143Arg)
2g.130592897C>TCA348502220CFC1c.652G>A (p.Gly218Arg)
c.537G>A (p.Arg179=)
c.427G>A (p.Gly143Arg)
2g.130592898C>ACA348502222CFC1c.651G>T (p.Pro217=)
c.536G>T (p.Arg179Leu)
c.426G>T (p.Pro142=)
2g.130592898C=CA1288363440CFC1c.651G= (p.Pro217=)
c.536G= (p.Arg179=)
c.426G= (p.Pro142=)
2g.130592898C>GCA348502223CFC1c.651G>C (p.Pro217=)
c.536G>C (p.Arg179Pro)
c.426G>C (p.Pro142=)
2g.130592898C>TCA348502224CFC1c.651G>A (p.Pro217=)
c.536G>A (p.Arg179Gln)
c.426G>A (p.Pro142=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592899G>ACA348502225CFC1c.650C>T (p.Pro217Leu)
c.535C>T (p.Arg179Trp)
c.425C>T (p.Pro142Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.130592899G>CCA348502226CFC1c.650C>G (p.Pro217Arg)
c.535C>G (p.Arg179Gly)
c.425C>G (p.Pro142Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592899G=CA1288363441CFC1c.650C= (p.Pro217=)
c.535C= (p.Arg179=)
c.425C= (p.Pro142=)
2g.130592899G>TCA348502227CFC1c.650C>A (p.Pro217Gln)
c.535C>A (p.Arg179=)
c.425C>A (p.Pro142Gln)
2g.130592900G>ACA348502228CFC1c.649C>T (p.Pro217Ser)
c.534C>T (p.Gly178=)
c.424C>T (p.Pro142Ser)
 gnomAD v3 gnomAD v4
2g.130592900G>CCA348502229CFC1c.649C>G (p.Pro217Ala)
c.534C>G (p.Gly178=)
c.424C>G (p.Pro142Ala)
2g.130592900G>TCA348502230CFC1c.649C>A (p.Pro217Thr)
c.534C>A (p.Gly178=)
c.424C>A (p.Pro142Thr)
2g.130592901C>ACA348502231CFC1c.648G>T (p.Arg216Ser)
c.533G>T (p.Gly178Val)
c.423G>T (p.Arg141Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.130592901C=CA1288363442CFC1c.648G= (p.Arg216=)
c.533G= (p.Gly178=)
c.423G= (p.Arg141=)
2g.130592901C>GCA348502232CFC1c.648G>C (p.Arg216Ser)
c.533G>C (p.Gly178Ala)
c.423G>C (p.Arg141Ser)
 gnomAD v4
2g.130592901C>TCA348502233CFC1c.648G>A (p.Arg216=)
c.533G>A (p.Gly178Asp)
c.423G>A (p.Arg141=)
2g.130592902C>ACA348502236CFC1c.647G>T (p.Arg216Met)
c.532G>T (p.Gly178Cys)
c.422G>T (p.Arg141Met)
 gnomAD v4
2g.130592902C>GCA348502234CFC1c.647G>C (p.Arg216Thr)
c.532G>C (p.Gly178Arg)
c.422G>C (p.Arg141Thr)
2g.130592902C>TCA348502235CFC1c.647G>A (p.Arg216Lys)
c.532G>A (p.Gly178Ser)
c.422G>A (p.Arg141Lys)
2g.130592903T>ACA348502237CFC1c.646A>T (p.Arg216Trp)
c.531A>T (p.Glu177Asp)
c.421A>T (p.Arg141Trp)
 dbSNP
2g.130592903T>CCA348502238CFC1c.646A>G (p.Arg216Gly)
c.531A>G (p.Glu177=)
c.421A>G (p.Arg141Gly)
 gnomAD v4
2g.130592903T>GCA348502239CFC1c.646A>C (p.Arg216=)
c.531A>C (p.Glu177Asp)
c.421A>C (p.Arg141=)
2g.130592903T=CA1288363443CFC1c.646A= (p.Arg216=)
c.531A= (p.Glu177=)
c.421A= (p.Arg141=)
2g.130592904T>ACA348502240CFC1c.645A>T (p.Gly215=)
c.530A>T (p.Glu177Val)
c.420A>T (p.Gly140=)
2g.130592904T>CCA348502241CFC1c.645A>G (p.Gly215=)
c.530A>G (p.Glu177Gly)
c.420A>G (p.Gly140=)
2g.130592904T>GCA348502242CFC1c.645A>C (p.Gly215=)
c.530A>C (p.Glu177Ala)
c.420A>C (p.Gly140=)
2g.130592905C>ACA348502243CFC1c.644G>T (p.Gly215Val)
c.529G>T (p.Glu177Ter)
c.419G>T (p.Gly140Val)
2g.130592905C>GCA348502244CFC1c.644G>C (p.Gly215Ala)
c.529G>C (p.Glu177Gln)
c.419G>C (p.Gly140Ala)
2g.130592905C>TCA348502245CFC1c.644G>A (p.Gly215Glu)
c.529G>A (p.Glu177Lys)
c.419G>A (p.Gly140Glu)
2g.130592906C>ACA348502246CFC1c.643G>T (p.Gly215Ter)
c.528G>T (p.Ala176=)
c.418G>T (p.Gly140Ter)
2g.130592906C=CA1288363444CFC1c.643G= (p.Gly215=)
c.528G= (p.Ala176=)
c.418G= (p.Gly140=)
2g.130592906C>GCA348502247CFC1c.643G>C (p.Gly215Arg)
c.528G>C (p.Ala176=)
c.418G>C (p.Gly140Arg)
 dbSNP
2g.130592906C>TCA348502248CFC1c.643G>A (p.Gly215Arg)
c.528G>A (p.Ala176=)
c.418G>A (p.Gly140Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.130592907G>ACA348502251CFC1c.642C>T (p.Cys214=)
c.527C>T (p.Ala176Val)
c.417C>T (p.Cys139=)
 dbSNP gnomAD v2 gnomAD v4
2g.130592907G>CCA348502250CFC1c.642C>G (p.Cys214Trp)
c.527C>G (p.Ala176Gly)
c.417C>G (p.Cys139Trp)
2g.130592907G=CA1288363445CFC1c.642C= (p.Cys214=)
c.527C= (p.Ala176=)
c.417C= (p.Cys139=)
2g.130592907G>TCA348502249CFC1c.642C>A (p.Cys214Ter)
c.527C>A (p.Ala176Glu)
c.417C>A (p.Cys139Ter)
 gnomAD v4
2g.130592908C>ACA348502254CFC1c.641G>T (p.Cys214Phe)
c.526G>T (p.Ala176Ser)
c.416G>T (p.Cys139Phe)
2g.130592908C>GCA348502252CFC1c.641G>C (p.Cys214Ser)
c.526G>C (p.Ala176Pro)
c.416G>C (p.Cys139Ser)
2g.130592908C>TCA348502253CFC1c.641G>A (p.Cys214Tyr)
c.526G>A (p.Ala176Thr)
c.416G>A (p.Cys139Tyr)
2g.130592909A=CA1288363446CFC1c.640T= (p.Cys214=)
c.525T= (p.Pro175=)
c.415T= (p.Cys139=)
2g.130592909A>CCA348502255CFC1c.640T>G (p.Cys214Gly)
c.525T>G (p.Pro175=)
c.415T>G (p.Cys139Gly)
2g.130592909A>GCA348502256CFC1c.640T>C (p.Cys214Arg)
c.525T>C (p.Pro175=)
c.415T>C (p.Cys139Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592909A>TCA348502257CFC1c.640T>A (p.Cys214Ser)
c.525T>A (p.Pro175=)
c.415T>A (p.Cys139Ser)
2g.130592910G>ACA348502260CFC1c.639C>T (p.Pro213=)
c.524C>T (p.Pro175Leu)
c.414C>T (p.Pro138=)
 dbSNP
2g.130592910G>CCA348502259CFC1c.639C>G (p.Pro213=)
c.524C>G (p.Pro175Arg)
c.414C>G (p.Pro138=)
2g.130592910G=CA1288363447CFC1c.639C= (p.Pro213=)
c.524C= (p.Pro175=)
c.414C= (p.Pro138=)
2g.130592910G>TCA348502258CFC1c.639C>A (p.Pro213=)
c.524C>A (p.Pro175His)
c.414C>A (p.Pro138=)
2g.130592911G>ACA348502261CFC1c.638C>T (p.Pro213Leu)
c.523C>T (p.Pro175Ser)
c.413C>T (p.Pro138Leu)
 gnomAD v4
2g.130592911G>CCA348502262CFC1c.638C>G (p.Pro213Arg)
c.523C>G (p.Pro175Ala)
c.413C>G (p.Pro138Arg)
 gnomAD v3 gnomAD v4
2g.130592911G>TCA348502263CFC1c.638C>A (p.Pro213His)
c.523C>A (p.Pro175Thr)
c.413C>A (p.Pro138His)
 gnomAD v4
2g.130592912G>ACA348502264CFC1c.637C>T (p.Pro213Ser)
c.522C>T (p.Ala174=)
c.412C>T (p.Pro138Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592912G>CCA348502265CFC1c.637C>G (p.Pro213Ala)
c.522C>G (p.Ala174=)
c.412C>G (p.Pro138Ala)
2g.130592912G=CA1288363448CFC1c.637C= (p.Pro213=)
c.522C= (p.Ala174=)
c.412C= (p.Pro138=)
2g.130592912G>TCA348502266CFC1c.637C>A (p.Pro213Thr)
c.522C>A (p.Ala174=)
c.412C>A (p.Pro138Thr)
 dbSNP
2g.130592913G>ACA348502267CFC1c.636C>T (p.Arg212=)
c.521C>T (p.Ala174Val)
c.411C>T (p.Arg137=)
 gnomAD v4
2g.130592913G>CCA348502269CFC1c.636C>G (p.Arg212=)
c.521C>G (p.Ala174Gly)
c.411C>G (p.Arg137=)
2g.130592913G>TCA348502268CFC1c.636C>A (p.Arg212=)
c.521C>A (p.Ala174Asp)
c.411C>A (p.Arg137=)
2g.130592914C>ACA348502270CFC1c.635G>T (p.Arg212Leu)
c.520G>T (p.Ala174Ser)
c.410G>T (p.Arg137Leu)
2g.130592914C>GCA348502271CFC1c.635G>C (p.Arg212Pro)
c.520G>C (p.Ala174Pro)
c.410G>C (p.Arg137Pro)
 gnomAD v4
2g.130592914C>TCA348502272CFC1c.635G>A (p.Arg212His)
c.520G>A (p.Ala174Thr)
c.410G>A (p.Arg137His)
 gnomAD v4
2g.130592915G>ACA348502273CFC1c.634C>T (p.Arg212Cys)
c.519C>T (p.Gly173=)
c.409C>T (p.Arg137Cys)
 gnomAD v4
2g.130592915G>CCA348502274CFC1c.634C>G (p.Arg212Gly)
c.519C>G (p.Gly173=)
c.409C>G (p.Arg137Gly)
2g.130592915G>TCA348502275CFC1c.634C>A (p.Arg212Ser)
c.519C>A (p.Gly173=)
c.409C>A (p.Arg137Ser)
 gnomAD v3 gnomAD v4
2g.130592916C>ACA348502276CFC1c.633G>T (p.Arg211=)
c.518G>T (p.Gly173Val)
c.408G>T (p.Arg136=)
2g.130592916C>GCA348502277CFC1c.633G>C (p.Arg211=)
c.518G>C (p.Gly173Ala)
c.408G>C (p.Arg136=)
2g.130592916C>TCA348502278CFC1c.633G>A (p.Arg211=)
c.518G>A (p.Gly173Asp)
c.408G>A (p.Arg136=)
2g.130592917C>ACA348502279CFC1c.632G>T (p.Arg211Leu)
c.517G>T (p.Gly173Cys)
c.407G>T (p.Arg136Leu)
2g.130592917C=CA1288363449CFC1c.632G= (p.Arg211=)
c.517G= (p.Gly173=)
c.407G= (p.Arg136=)
2g.130592917C>GCA348502280CFC1c.632G>C (p.Arg211Pro)
c.517G>C (p.Gly173Arg)
c.407G>C (p.Arg136Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.130592917C>TCA348502281CFC1c.632G>A (p.Arg211Gln)
c.517G>A (p.Gly173Ser)
c.407G>A (p.Arg136Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.130592918G>ACA348502283CFC1c.631C>T (p.Arg211Trp)
c.516C>T (p.Ser172=)
c.406C>T (p.Arg136Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592918G>CCA348502284CFC1c.631C>G (p.Arg211Gly)
c.516C>G (p.Ser172Arg)
c.406C>G (p.Arg136Gly)
2g.130592918G=CA1288363450CFC1c.631C= (p.Arg211=)
c.516C= (p.Ser172=)
c.406C= (p.Arg136=)
2g.130592918G>TCA348502282CFC1c.631C>A (p.Arg211=)
c.516C>A (p.Ser172Arg)
c.406C>A (p.Arg136=)
2g.130592919C>ACA348502285CFC1c.630G>T (p.Glu210Asp)
c.515G>T (p.Ser172Ile)
c.405G>T (p.Glu135Asp)
2g.130592919C>GCA348502286CFC1c.630G>C (p.Glu210Asp)
c.515G>C (p.Ser172Thr)
c.405G>C (p.Glu135Asp)
2g.130592919C>TCA348502287CFC1c.630G>A (p.Glu210=)
c.515G>A (p.Ser172Asn)
c.405G>A (p.Glu135=)
 gnomAD v4
2g.130592920T>ACA348502288CFC1c.629A>T (p.Glu210Val)
c.514A>T (p.Ser172Cys)
c.404A>T (p.Glu135Val)
2g.130592920T>CCA348502289CFC1c.629A>G (p.Glu210Gly)
c.514A>G (p.Ser172Gly)
c.404A>G (p.Glu135Gly)
2g.130592920T>GCA348502290CFC1c.629A>C (p.Glu210Ala)
c.514A>C (p.Ser172Arg)
c.404A>C (p.Glu135Ala)
2g.130592921C>ACA348502293CFC1c.628G>T (p.Glu210Ter)
c.513G>T (p.Gly171=)
c.403G>T (p.Glu135Ter)
2g.130592921C=CA1288363451CFC1c.628G= (p.Glu210=)
c.513G= (p.Gly171=)
c.403G= (p.Glu135=)
2g.130592921C>GCA348502292CFC1c.628G>C (p.Glu210Gln)
c.513G>C (p.Gly171=)
c.403G>C (p.Glu135Gln)
2g.130592921C>TCA348502291CFC1c.628G>A (p.Glu210Lys)
c.513G>A (p.Gly171=)
c.403G>A (p.Glu135Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592922C>ACA348502294CFC1c.627G>T (p.Arg209=)
c.512G>T (p.Gly171Val)
c.402G>T (p.Arg134=)
2g.130592922C=CA1288363452CFC1c.627G= (p.Arg209=)
c.512G= (p.Gly171=)
c.402G= (p.Arg134=)
2g.130592922C>GCA348502295CFC1c.627G>C (p.Arg209=)
c.512G>C (p.Gly171Ala)
c.402G>C (p.Arg134=)
2g.130592922C>TCA348502296CFC1c.627G>A (p.Arg209=)
c.512G>A (p.Gly171Glu)
c.402G>A (p.Arg134=)
 dbSNP gnomAD v4
2g.130592923C>ACA348502297CFC1c.626G>T (p.Arg209Leu)
c.511G>T (p.Gly171Trp)
c.401G>T (p.Arg134Leu)
2g.130592923C=CA1288363453CFC1c.626G= (p.Arg209=)
c.511G= (p.Gly171=)
c.401G= (p.Arg134=)
2g.130592923C>GCA348502298CFC1c.626G>C (p.Arg209Pro)
c.511G>C (p.Gly171Arg)
c.401G>C (p.Arg134Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592923C>TCA348502299CFC1c.626G>A (p.Arg209Gln)
c.511G>A (p.Gly171Arg)
c.401G>A (p.Arg134Gln)
 dbSNP gnomAD v4
2g.130592924G>ACA348502300CFC1c.625C>T (p.Arg209Trp)
c.510C>T (p.Ser170=)
c.400C>T (p.Arg134Trp)
 dbSNP gnomAD v3 gnomAD v4
2g.130592924G>CCA348502302CFC1c.625C>G (p.Arg209Gly)
c.510C>G (p.Ser170Arg)
c.400C>G (p.Arg134Gly)
2g.130592924G=CA1288363454CFC1c.625C= (p.Arg209=)
c.510C= (p.Ser170=)
c.400C= (p.Arg134=)
2g.130592924G>TCA348502301CFC1c.625C>A (p.Arg209=)
c.510C>A (p.Ser170Arg)
c.400C>A (p.Arg134=)
2g.130592925C>ACA348502303CFC1c.624G>T (p.Gln208His)
c.509G>T (p.Ser170Ile)
c.399G>T (p.Gln133His)
2g.130592925C>GCA348502304CFC1c.624G>C (p.Gln208His)
c.509G>C (p.Ser170Thr)
c.399G>C (p.Gln133His)
2g.130592925C>TCA348502305CFC1c.624G>A (p.Gln208=)
c.509G>A (p.Ser170Asn)
c.399G>A (p.Gln133=)
2g.130592926T>ACA348502306CFC1c.623A>T (p.Gln208Leu)
c.508A>T (p.Ser170Cys)
c.398A>T (p.Gln133Leu)
2g.130592926T>CCA348502307CFC1c.623A>G (p.Gln208Arg)
c.508A>G (p.Ser170Gly)
c.398A>G (p.Gln133Arg)
 gnomAD v4
2g.130592926T>GCA348502308CFC1c.623A>C (p.Gln208Pro)
c.508A>C (p.Ser170Arg)
c.398A>C (p.Gln133Pro)
2g.130592927G>ACA348502309CFC1c.622C>T (p.Gln208Ter)
c.507C>T (p.Ser169=)
c.397C>T (p.Gln133Ter)
 gnomAD v4
2g.130592927G>CCA348502310CFC1c.622C>G (p.Gln208Glu)
c.507C>G (p.Ser169=)
c.397C>G (p.Gln133Glu)
2g.130592927G>TCA348502311CFC1c.622C>A (p.Gln208Lys)
c.507C>A (p.Ser169=)
c.397C>A (p.Gln133Lys)
2g.130592928G>ACA348502312CFC1c.621C>T (p.Leu207=)
c.506C>T (p.Ser169Phe)
c.396C>T (p.Leu132=)
2g.130592928G>CCA348502313CFC1c.621C>G (p.Leu207=)
c.506C>G (p.Ser169Cys)
c.396C>G (p.Leu132=)
 dbSNP gnomAD v3 gnomAD v4
2g.130592928G=CA1288363455CFC1c.621C= (p.Leu207=)
c.506C= (p.Ser169=)
c.396C= (p.Leu132=)
2g.130592928G>TCA348502314CFC1c.621C>A (p.Leu207=)
c.506C>A (p.Ser169Tyr)
c.396C>A (p.Leu132=)
2g.130592929A>CCA348502315CFC1c.620T>G (p.Leu207Arg)
c.505T>G (p.Ser169Ala)
c.395T>G (p.Leu132Arg)
2g.130592929A>GCA348502317CFC1c.620T>C (p.Leu207Pro)
c.505T>C (p.Ser169Pro)
c.395T>C (p.Leu132Pro)
2g.130592929A>TCA348502316CFC1c.620T>A (p.Leu207His)
c.505T>A (p.Ser169Thr)
c.395T>A (p.Leu132His)
2g.130592930G>ACA348502318CFC1c.619C>T (p.Leu207Phe)
c.504C>T (p.Ser168=)
c.394C>T (p.Leu132Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.130592930G>CCA55504179CFC1c.619C>G (p.Leu207Val)
c.504C>G (p.Ser168=)
c.394C>G (p.Leu132Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592930G=CA1288363456CFC1c.619C= (p.Leu207=)
c.504C= (p.Ser168=)
c.394C= (p.Leu132=)
2g.130592930G>TCA348502319CFC1c.619C>A (p.Leu207Ile)
c.504C>A (p.Ser168=)
c.394C>A (p.Leu132Ile)
2g.130592933_130592936dupCA913089048CFC1c.616_619dup (p.Leu207ArgfsTer30)
c.501_504dup (p.Ser169ValfsTer19)
c.391_394dup (p.Leu132ArgfsTer30)
2g.130592931G>ACA348502320CFC1c.618C>T (p.Val206=)
c.503C>T (p.Ser168Phe)
c.393C>T (p.Val131=)
 gnomAD v4
2g.130592931G>CCA348502321CFC1c.618C>G (p.Val206=)
c.503C>G (p.Ser168Cys)
c.393C>G (p.Val131=)
2g.130592931G>TCA348502322CFC1c.618C>A (p.Val206=)
c.503C>A (p.Ser168Tyr)
c.393C>A (p.Val131=)
2g.130592932A>CCA348502323CFC1c.617T>G (p.Val206Gly)
c.502T>G (p.Ser168Ala)
c.392T>G (p.Val131Gly)
 gnomAD v3 gnomAD v4
2g.130592932A>GCA348502324CFC1c.617T>C (p.Val206Ala)
c.502T>C (p.Ser168Pro)
c.392T>C (p.Val131Ala)
2g.130592932A>TCA348502325CFC1c.617T>A (p.Val206Asp)
c.502T>A (p.Ser168Thr)
c.392T>A (p.Val131Asp)
2g.130592933C>ACA348502326CFC1c.616G>T (p.Val206Phe)
c.501G>T (p.Pro167=)
c.391G>T (p.Val131Phe)
2g.130592933C=CA1288363457CFC1c.616G= (p.Val206=)
c.501G= (p.Pro167=)
c.391G= (p.Val131=)
2g.130592933C>GCA348502327CFC1c.616G>C (p.Val206Leu)
c.501G>C (p.Pro167=)
c.391G>C (p.Val131Leu)
2g.130592933C>TCA348502328CFC1c.616G>A (p.Val206Ile)
c.501G>A (p.Pro167=)
c.391G>A (p.Val131Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592934G>ACA348502330CFC1c.615C>T (p.Ser205=)
c.500C>T (p.Pro167Leu)
c.390C>T (p.Ser130=)
 gnomAD v4 COSMIC
2g.130592934G>CCA290063CFC1c.615C>G (p.Ser205=)
c.500C>G (p.Pro167Arg)
c.390C>G (p.Ser130=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.130592934G=CA1288363458CFC1c.615C= (p.Ser205=)
c.500C= (p.Pro167=)
c.390C= (p.Ser130=)
2g.130592934G>TCA348502329CFC1c.615C>A (p.Ser205=)
c.500C>A (p.Pro167Gln)
c.390C>A (p.Ser130=)
 gnomAD v4
2g.130592935G>ACA348502331CFC1c.614C>T (p.Ser205Phe)
c.499C>T (p.Pro167Ser)
c.389C>T (p.Ser130Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.130592935G>CCA348502332CFC1c.614C>G (p.Ser205Cys)
c.499C>G (p.Pro167Ala)
c.389C>G (p.Ser130Cys)
2g.130592935G=CA1288363459CFC1c.614C= (p.Ser205=)
c.499C= (p.Pro167=)
c.389C= (p.Ser130=)
2g.130592935G>TCA348502333CFC1c.614C>A (p.Ser205Tyr)
c.499C>A (p.Pro167Thr)
c.389C>A (p.Ser130Tyr)
 gnomAD v4
2g.130592936A>CCA348502334CFC1c.613T>G (p.Ser205Ala)
c.498T>G (p.Leu166=)
c.388T>G (p.Ser130Ala)
 gnomAD v4
2g.130592936A>GCA348502335CFC1c.613T>C (p.Ser205Pro)
c.498T>C (p.Leu166=)
c.388T>C (p.Ser130Pro)
 gnomAD v3 gnomAD v4
2g.130592936A>TCA348502336CFC1c.613T>A (p.Ser205Thr)
c.498T>A (p.Leu166=)
c.388T>A (p.Ser130Thr)
2g.130592937A>CCA348502337CFC1c.612T>G (p.Pro204=)
c.497T>G (p.Leu166Arg)
c.387T>G (p.Pro129=)
 gnomAD v4
2g.130592937A>GCA348502338CFC1c.612T>C (p.Pro204=)
c.497T>C (p.Leu166Pro)
c.387T>C (p.Pro129=)
 gnomAD v4
2g.130592937A>TCA348502339CFC1c.612T>A (p.Pro204=)
c.497T>A (p.Leu166His)
c.387T>A (p.Pro129=)
2g.130592944_130592950dupCA2661125015CFC1c.606_612dup (p.Ser205GlyfsTer?)
c.491_497dup (p.Pro167ValfsTer22)
c.381_387dup (p.Ser130GlyfsTer?)
 gnomAD v4
2g.130592944_130592950delCA2661125016CFC1c.606_612del (p.Val203ProfsTer26)
c.491_497del (p.Trp164PhefsTer?)
c.381_387del (p.Val128ProfsTer26)
 gnomAD v4
2g.130592938G>ACA348502340CFC1c.611C>T (p.Pro204Leu)
c.496C>T (p.Leu166Phe)
c.386C>T (p.Pro129Leu)
 dbSNP gnomAD v4
2g.130592938G>CCA348502341CFC1c.611C>G (p.Pro204Arg)
c.496C>G (p.Leu166Val)
c.386C>G (p.Pro129Arg)
2g.130592938G=CA1288363460CFC1c.611C= (p.Pro204=)
c.496C= (p.Leu166=)
c.386C= (p.Pro129=)
2g.130592938G>TCA348502342CFC1c.611C>A (p.Pro204His)
c.496C>A (p.Leu166Ile)
c.386C>A (p.Pro129His)
2g.130592939G>ACA348502343CFC1c.610C>T (p.Pro204Ser)
c.495C>T (p.Ser165=)
c.385C>T (p.Pro129Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.130592939G>CCA348502345CFC1c.610C>G (p.Pro204Ala)
c.495C>G (p.Ser165=)
c.385C>G (p.Pro129Ala)
 gnomAD v4
2g.130592939G=CA1288363461CFC1c.610C= (p.Pro204=)
c.495C= (p.Ser165=)
c.385C= (p.Pro129=)
2g.130592939G>TCA348502344CFC1c.610C>A (p.Pro204Thr)
c.495C>A (p.Ser165=)
c.385C>A (p.Pro129Thr)
2g.130592940G>ACA348502346CFC1c.609C>T (p.Val203=)
c.494C>T (p.Ser165Phe)
c.384C>T (p.Val128=)
2g.130592940G>CCA348502348CFC1c.609C>G (p.Val203=)
c.494C>G (p.Ser165Cys)
c.384C>G (p.Val128=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592940G=CA1288363462CFC1c.609C= (p.Val203=)
c.494C= (p.Ser165=)
c.384C= (p.Val128=)
2g.130592940G>TCA348502347CFC1c.609C>A (p.Val203=)
c.494C>A (p.Ser165Tyr)
c.384C>A (p.Val128=)
2g.130592941A=CA1288363463CFC1c.608T= (p.Val203=)
c.493T= (p.Ser165=)
c.383T= (p.Val128=)
2g.130592941A>CCA348502349CFC1c.608T>G (p.Val203Gly)
c.493T>G (p.Ser165Ala)
c.383T>G (p.Val128Gly)
 gnomAD v3 gnomAD v4
2g.130592941A>GCA348502350CFC1c.608T>C (p.Val203Ala)
c.493T>C (p.Ser165Pro)
c.383T>C (p.Val128Ala)
 dbSNP gnomAD v4
2g.130592941A>TCA348502351CFC1c.608T>A (p.Val203Asp)
c.493T>A (p.Ser165Thr)
c.383T>A (p.Val128Asp)
2g.130592942C>ACA348502352CFC1c.607G>T (p.Val203Phe)
c.492G>T (p.Trp164Cys)
c.382G>T (p.Val128Phe)
 gnomAD v4
2g.130592942C>GCA348502353CFC1c.607G>C (p.Val203Leu)
c.492G>C (p.Trp164Cys)
c.382G>C (p.Val128Leu)
2g.130592942C>TCA348502354CFC1c.607G>A (p.Val203Ile)
c.492G>A (p.Trp164Ter)
c.382G>A (p.Val128Ile)
 gnomAD v4
2g.130592943delCA2752191865CFC1c.607del (p.Val203SerfsTer28)
c.492del (p.Trp164CysfsTer?)
c.382del (p.Val128SerfsTer28)
2g.130592943C>ACA348502355CFC1c.606G>T (p.Leu202=)
c.491G>T (p.Trp164Leu)
c.381G>T (p.Leu127=)
 gnomAD v4
2g.130592943C=CA1288363464CFC1c.606G= (p.Leu202=)
c.491G= (p.Trp164=)
c.381G= (p.Leu127=)
2g.130592943C>GCA290060CFC1c.606G>C (p.Leu202=)
c.491G>C (p.Trp164Ser)
c.381G>C (p.Leu127=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.130592943C>TCA348502356CFC1c.606G>A (p.Leu202=)
c.491G>A (p.Trp164Ter)
c.381G>A (p.Leu127=)
 dbSNP
2g.130592944A>CCA348502357CFC1c.605T>G (p.Leu202Arg)
c.490T>G (p.Trp164Gly)
c.380T>G (p.Leu127Arg)
2g.130592944A>GCA348502358CFC1c.605T>C (p.Leu202Pro)
c.490T>C (p.Trp164Arg)
c.380T>C (p.Leu127Pro)
2g.130592944A>TCA348502359CFC1c.605T>A (p.Leu202Gln)
c.490T>A (p.Trp164Arg)
c.380T>A (p.Leu127Gln)
2g.130592945G>ACA428885195CFC1c.604C>T (p.Leu202=)
c.489C>T (p.Pro163=)
c.379C>T (p.Leu127=)
 gnomAD v4
2g.130592945G>CCA348502361CFC1c.604C>G (p.Leu202Val)
c.489C>G (p.Pro163=)
c.379C>G (p.Leu127Val)
 gnomAD v4
2g.130592945G>TCA348502360CFC1c.604C>A (p.Leu202Met)
c.489C>A (p.Pro163=)
c.379C>A (p.Leu127Met)
2g.130592946G>ACA348502362CFC1c.603C>T (p.Ser201=)
c.488C>T (p.Pro163Leu)
c.378C>T (p.Ser126=)
 gnomAD v4
2g.130592946G>CCA348502363CFC1c.603C>G (p.Ser201=)
c.488C>G (p.Pro163Arg)
c.378C>G (p.Ser126=)
2g.130592946G>TCA348502364CFC1c.603C>A (p.Ser201=)
c.488C>A (p.Pro163His)
c.378C>A (p.Ser126=)
2g.130592947G>ACA348502365CFC1c.602C>T (p.Ser201Phe)
c.487C>T (p.Pro163Ser)
c.377C>T (p.Ser126Phe)
2g.130592947G>CCA348502366CFC1c.602C>G (p.Ser201Cys)
c.487C>G (p.Pro163Ala)
c.377C>G (p.Ser126Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.130592947G=CA1288363465CFC1c.602C= (p.Ser201=)
c.487C= (p.Pro163=)
c.377C= (p.Ser126=)
2g.130592947G>TCA348502367CFC1c.602C>A (p.Ser201Tyr)
c.487C>A (p.Pro163Thr)
c.377C>A (p.Ser126Tyr)
2g.130592948A=CA1288363466CFC1c.601T= (p.Ser201=)
c.486T= (p.Gly162=)
c.376T= (p.Ser126=)
2g.130592948A>CCA348502368CFC1c.601T>G (p.Ser201Ala)
c.486T>G (p.Gly162=)
c.376T>G (p.Ser126Ala)
 dbSNP gnomAD v4
2g.130592948A>GCA348502369CFC1c.601T>C (p.Ser201Pro)
c.486T>C (p.Gly162=)
c.376T>C (p.Ser126Pro)
2g.130592948A>TCA348502370CFC1c.601T>A (p.Ser201Thr)
c.486T>A (p.Gly162=)
c.376T>A (p.Ser126Thr)
2g.130592949C>ACA290057CFC1c.600G>T (p.Arg200=)
c.485G>T (p.Gly162Val)
c.375G>T (p.Arg125=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592949C=CA1288363467CFC1c.600G= (p.Arg200=)
c.485G= (p.Gly162=)
c.375G= (p.Arg125=)
2g.130592949C>GCA348502371CFC1c.600G>C (p.Arg200=)
c.485G>C (p.Gly162Ala)
c.375G>C (p.Arg125=)
2g.130592949C>TCA348502372CFC1c.600G>A (p.Arg200=)
c.485G>A (p.Gly162Asp)
c.375G>A (p.Arg125=)
 gnomAD v4
2g.130592950C>ACA348502375CFC1c.599G>T (p.Arg200Leu)
c.484G>T (p.Gly162Cys)
c.374G>T (p.Arg125Leu)
2g.130592950C=CA1288363468CFC1c.599G= (p.Arg200=)
c.484G= (p.Gly162=)
c.374G= (p.Arg125=)
2g.130592950C>GCA348502374CFC1c.599G>C (p.Arg200Pro)
c.484G>C (p.Gly162Arg)
c.374G>C (p.Arg125Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.130592950C>TCA348502373CFC1c.599G>A (p.Arg200Gln)
c.484G>A (p.Gly162Ser)
c.374G>A (p.Arg125Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592951G>ACA348502377CFC1c.598C>T (p.Arg200Trp)
c.483C>T (p.Leu161=)
c.373C>T (p.Arg125Trp)
 dbSNP gnomAD v3 gnomAD v4
2g.130592951G>CCA348502376CFC1c.598C>G (p.Arg200Gly)
c.483C>G (p.Leu161=)
c.373C>G (p.Arg125Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592951G=CA1288363469CFC1c.598C= (p.Arg200=)
c.483C= (p.Leu161=)
c.373C= (p.Arg125=)
2g.130592951G>TCA428885205CFC1c.598C>A (p.Arg200=)
c.483C>A (p.Leu161=)
c.373C>A (p.Arg125=)
 gnomAD v4
2g.130592952A=CA1288363470CFC1c.597T= (p.Pro199=)
c.482T= (p.Leu161=)
c.372T= (p.Pro124=)
2g.130592952A>CCA348502378CFC1c.597T>G (p.Pro199=)
c.482T>G (p.Leu161Arg)
c.372T>G (p.Pro124=)
 dbSNP gnomAD v2 gnomAD v4
2g.130592952A>GCA348502379CFC1c.597T>C (p.Pro199=)
c.482T>C (p.Leu161Pro)
c.372T>C (p.Pro124=)
2g.130592952A>TCA348502380CFC1c.597T>A (p.Pro199=)
c.482T>A (p.Leu161His)
c.372T>A (p.Pro124=)
2g.130592952dupCA2661125017CFC1c.597dup (p.Arg200SerfsTer?)
c.482dup (p.Gly162ArgfsTer25)
c.372dup (p.Arg125SerfsTer?)
 gnomAD v4
2g.130592953G>ACA348502381CFC1c.596C>T (p.Pro199Leu)
c.481C>T (p.Leu161Phe)
c.371C>T (p.Pro124Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592953G>CCA348502382CFC1c.596C>G (p.Pro199Arg)
c.481C>G (p.Leu161Val)
c.371C>G (p.Pro124Arg)
2g.130592953G=CA1288363471CFC1c.596C= (p.Pro199=)
c.481C= (p.Leu161=)
c.371C= (p.Pro124=)
2g.130592953G>TCA348502383CFC1c.596C>A (p.Pro199His)
c.481C>A (p.Leu161Ile)
c.371C>A (p.Pro124His)
2g.130592954G>ACA348502384CFC1c.595C>T (p.Pro199Ser)
c.480C>T (p.Thr160=)
c.370C>T (p.Pro124Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.130592954G>CCA348502385CFC1c.595C>G (p.Pro199Ala)
c.480C>G (p.Thr160=)
c.370C>G (p.Pro124Ala)
2g.130592954G=CA1288363472CFC1c.595C= (p.Pro199=)
c.480C= (p.Thr160=)
c.370C= (p.Pro124=)
2g.130592954G>TCA348502386CFC1c.595C>A (p.Pro199Thr)
c.480C>A (p.Thr160=)
c.370C>A (p.Pro124Thr)
2g.130592955G>ACA348502387CFC1c.594C>T (p.His198=)
c.479C>T (p.Thr160Ile)
c.369C>T (p.His123=)
2g.130592955G>CCA348502388CFC1c.594C>G (p.His198Gln)
c.479C>G (p.Thr160Ser)
c.369C>G (p.His123Gln)
2g.130592955G>TCA348502389CFC1c.594C>A (p.His198Gln)
c.479C>A (p.Thr160Asn)
c.369C>A (p.His123Gln)
2g.130592956T>ACA348502392CFC1c.593A>T (p.His198Leu)
c.478A>T (p.Thr160Ser)
c.368A>T (p.His123Leu)
2g.130592956T>CCA348502390CFC1c.593A>G (p.His198Arg)
c.478A>G (p.Thr160Ala)
c.368A>G (p.His123Arg)
2g.130592956T>GCA348502391CFC1c.593A>C (p.His198Pro)
c.478A>C (p.Thr160Pro)
c.368A>C (p.His123Pro)
2g.130592957G>ACA348502393CFC1c.592C>T (p.His198Tyr)
c.477C>T (p.Arg159=)
c.367C>T (p.His123Tyr)
 gnomAD v4
2g.130592957G>CCA348502394CFC1c.592C>G (p.His198Asp)
c.477C>G (p.Arg159=)
c.367C>G (p.His123Asp)
2g.130592957G>TCA348502395CFC1c.592C>A (p.His198Asn)
c.477C>A (p.Arg159=)
c.367C>A (p.His123Asn)
2g.130592958C>ACA348502396CFC1c.591G>T (p.Ala197=)
c.476G>T (p.Arg159Leu)
c.366G>T (p.Ala122=)
 gnomAD v4
2g.130592958C=CA1288363473CFC1c.591G= (p.Ala197=)
c.476G= (p.Arg159=)
c.366G= (p.Ala122=)
2g.130592958C>GCA348502397CFC1c.591G>C (p.Ala197=)
c.476G>C (p.Arg159Pro)
c.366G>C (p.Ala122=)
2g.130592958C>TCA348502398CFC1c.591G>A (p.Ala197=)
c.476G>A (p.Arg159His)
c.366G>A (p.Ala122=)
 dbSNP gnomAD v2 gnomAD v4
2g.130592959G>ACA348502399CFC1c.590C>T (p.Ala197Val)
c.475C>T (p.Arg159Cys)
c.365C>T (p.Ala122Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592959G>CCA348502400CFC1c.590C>G (p.Ala197Gly)
c.475C>G (p.Arg159Gly)
c.365C>G (p.Ala122Gly)
 gnomAD v4
2g.130592959G=CA1288363474CFC1c.590C= (p.Ala197=)
c.475C= (p.Arg159=)
c.365C= (p.Ala122=)
2g.130592959G>TCA348502401CFC1c.590C>A (p.Ala197Glu)
c.475C>A (p.Arg159Ser)
c.365C>A (p.Ala122Glu)
2g.130592959_130592969delinsGCGGGCGCATCCA1288363475CFC1c.580_590delinsGATGCGCCCGC (p.Asp194=)
c.465_475delinsGATGCGCCCGC (p.Arg155=)
c.355_365delinsGATGCGCCCGC (p.Asp119=)
2g.130592960delCA2661125018CFC1c.589del (p.Ala197ArgfsTer?)
c.474del (p.Arg159AlafsTer?)
c.364del (p.Ala122ArgfsTer?)
 gnomAD v4
2g.130592960C>ACA348502402CFC1c.589G>T (p.Ala197Ser)
c.474G>T (p.Pro158=)
c.364G>T (p.Ala122Ser)
 gnomAD v4
2g.130592960C=CA1288363476CFC1c.589G= (p.Ala197=)
c.474G= (p.Pro158=)
c.364G= (p.Ala122=)
2g.130592960C>GCA348502403CFC1c.589G>C (p.Ala197Pro)
c.474G>C (p.Pro158=)
c.364G>C (p.Ala122Pro)
2g.130592960C>TCA348502404CFC1c.589G>A (p.Ala197Thr)
c.474G>A (p.Pro158=)
c.364G>A (p.Ala122Thr)
 dbSNP gnomAD v4
2g.130592968_130592977delCA914472695CFC1c.580_589del (p.Asp194ArgfsTer?)
c.465_474del (p.Met156AlafsTer?)
c.355_364del (p.Asp119ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592961G>ACA348502405CFC1c.588C>T (p.Pro196=)
c.473C>T (p.Pro158Leu)
c.363C>T (p.Pro121=)
 dbSNP gnomAD v4
2g.130592961G>CCA348502406CFC1c.588C>G (p.Pro196=)
c.473C>G (p.Pro158Arg)
c.363C>G (p.Pro121=)
 dbSNP gnomAD v2 gnomAD v4
2g.130592961G=CA1288363477CFC1c.588C= (p.Pro196=)
c.473C= (p.Pro158=)
c.363C= (p.Pro121=)
2g.130592961G>TCA290054CFC1c.588C>A (p.Pro196=)
c.473C>A (p.Pro158Gln)
c.363C>A (p.Pro121=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.130592963delCA2661125019CFC1c.588del (p.Ala197ArgfsTer?)
c.473del (p.Pro158ArgfsTer?)
c.363del (p.Ala122ArgfsTer?)
 gnomAD v4
2g.130592962G>ACA348502407CFC1c.587C>T (p.Pro196Leu)
c.472C>T (p.Pro158Ser)
c.362C>T (p.Pro121Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.130592962G>CCA348502409CFC1c.587C>G (p.Pro196Arg)
c.472C>G (p.Pro158Ala)
c.362C>G (p.Pro121Arg)
 gnomAD v4
2g.130592962G=CA1288363478CFC1c.587C= (p.Pro196=)
c.472C= (p.Pro158=)
c.362C= (p.Pro121=)
2g.130592962G>TCA348502408CFC1c.587C>A (p.Pro196His)
c.472C>A (p.Pro158Thr)
c.362C>A (p.Pro121His)

Number of alleles fetched