Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18787573G>ACA506053090COMPc.1053C>T (p.Cys351=)
c.894C>T (p.Cys298=)
c.954C>T (p.Cys318=)
19g.18787573G>CCA404888330COMPc.1053C>G (p.Cys351Trp)
c.894C>G (p.Cys298Trp)
c.954C>G (p.Cys318Trp)
19g.18787573G>TCA404888334COMPc.1053C>A (p.Cys351Ter)
c.894C>A (p.Cys298Ter)
c.954C>A (p.Cys318Ter)
19g.18787574C>ACA404888337COMPc.1052G>T (p.Cys351Phe)
c.893G>T (p.Cys298Phe)
c.953G>T (p.Cys318Phe)
19g.18787574C>GCA404888343COMPc.1052G>C (p.Cys351Ser)
c.893G>C (p.Cys298Ser)
c.953G>C (p.Cys318Ser)
19g.18787574C>TCA404888339COMPc.1052G>A (p.Cys351Tyr)
c.893G>A (p.Cys298Tyr)
c.953G>A (p.Cys318Tyr)
 ClinVar
19g.18787575A>CCA404888347COMPc.1051T>G (p.Cys351Gly)
c.892T>G (p.Cys298Gly)
c.952T>G (p.Cys318Gly)
19g.18787575A>GCA404888350COMPc.1051T>C (p.Cys351Arg)
c.892T>C (p.Cys298Arg)
c.952T>C (p.Cys318Arg)
 ClinVar dbSNP
19g.18787575A>TCA404888352COMPc.1051T>A (p.Cys351Ser)
c.892T>A (p.Cys298Ser)
c.952T>A (p.Cys318Ser)
19g.18787576G>ACA506053091COMPc.1050C>T (p.Asn350=)
c.891C>T (p.Asn297=)
c.951C>T (p.Asn317=)
19g.18787576G>CCA404888357COMPc.1050C>G (p.Asn350Lys)
c.891C>G (p.Asn297Lys)
c.951C>G (p.Asn317Lys)
19g.18787576G>TCA404888358COMPc.1050C>A (p.Asn350Lys)
c.891C>A (p.Asn297Lys)
c.951C>A (p.Asn317Lys)
19g.18787577T>ACA404888362COMPc.1049A>T (p.Asn350Ile)
c.890A>T (p.Asn297Ile)
c.950A>T (p.Asn317Ile)
19g.18787577T>CCA404888363COMPc.1049A>G (p.Asn350Ser)
c.890A>G (p.Asn297Ser)
c.950A>G (p.Asn317Ser)
 dbSNP gnomAD v4
19g.18787577T>GCA404888367COMPc.1049A>C (p.Asn350Thr)
c.890A>C (p.Asn297Thr)
c.950A>C (p.Asn317Thr)
 ClinVar dbSNP
19g.18787577T=CA2326526047COMPc.1049A= (p.Asn350=)
c.890A= (p.Asn297=)
c.950A= (p.Asn317=)
19g.18787578T>ACA404888375COMPc.1048A>T (p.Asn350Tyr)
c.889A>T (p.Asn297Tyr)
c.949A>T (p.Asn317Tyr)
19g.18787578T>CCA404888384COMPc.1048A>G (p.Asn350Asp)
c.889A>G (p.Asn297Asp)
c.949A>G (p.Asn317Asp)
19g.18787578T>GCA404888386COMPc.1048A>C (p.Asn350His)
c.889A>C (p.Asn297His)
c.949A>C (p.Asn317His)
19g.18787579G>ACA506053092COMPc.1047C>T (p.Asp349=)
c.888C>T (p.Asp296=)
c.948C>T (p.Asp316=)
 dbSNP
19g.18787579G>CCA404888395COMPc.1047C>G (p.Asp349Glu)
c.888C>G (p.Asp296Glu)
c.948C>G (p.Asp316Glu)
19g.18787579G=CA2326526049COMPc.1047C= (p.Asp349=)
c.888C= (p.Asp296=)
c.948C= (p.Asp316=)
19g.18787579G>TCA404888391COMPc.1047C>A (p.Asp349Glu)
c.888C>A (p.Asp296Glu)
c.948C>A (p.Asp316Glu)
19g.18787580T>ACA404888408COMPc.1046A>T (p.Asp349Val)
c.887A>T (p.Asp296Val)
c.947A>T (p.Asp316Val)
19g.18787580T>CCA404888423COMPc.1046A>G (p.Asp349Gly)
c.887A>G (p.Asp296Gly)
c.947A>G (p.Asp316Gly)
19g.18787580T>GCA404888425COMPc.1046A>C (p.Asp349Ala)
c.887A>C (p.Asp296Ala)
c.947A>C (p.Asp316Ala)
19g.18787581C>ACA404888429COMPc.1045G>T (p.Asp349Tyr)
c.886G>T (p.Asp296Tyr)
c.946G>T (p.Asp316Tyr)
19g.18787581C>GCA404888430COMPc.1045G>C (p.Asp349His)
c.886G>C (p.Asp296His)
c.946G>C (p.Asp316His)
 ClinVar
19g.18787581C>TCA404888431COMPc.1045G>A (p.Asp349Asn)
c.886G>A (p.Asp296Asn)
c.946G>A (p.Asp316Asn)
 ClinVar dbSNP COSMIC
19g.18787582G>ACA506053093COMPc.1044C>T (p.Cys348=)
c.885C>T (p.Cys295=)
c.945C>T (p.Cys315=)
 gnomAD v4
19g.18787582G>CCA404888432COMPc.1044C>G (p.Cys348Trp)
c.885C>G (p.Cys295Trp)
c.945C>G (p.Cys315Trp)
19g.18787582G=CA2326526053COMPc.1044C= (p.Cys348=)
c.885C= (p.Cys295=)
c.945C= (p.Cys315=)
19g.18787582G>TCA9316554COMPc.1044C>A (p.Cys348Ter)
c.885C>A (p.Cys295Ter)
c.945C>A (p.Cys315Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787583C>ACA404888442COMPc.1043G>T (p.Cys348Phe)
c.884G>T (p.Cys295Phe)
c.944G>T (p.Cys315Phe)
19g.18787583C>GCA404888450COMPc.1043G>C (p.Cys348Ser)
c.884G>C (p.Cys295Ser)
c.944G>C (p.Cys315Ser)
19g.18787583C>TCA404888452COMPc.1043G>A (p.Cys348Tyr)
c.884G>A (p.Cys295Tyr)
c.944G>A (p.Cys315Tyr)
 ClinVar dbSNP
19g.18787584A=CA2326526060COMPc.1042T= (p.Cys348=)
c.883T= (p.Cys295=)
c.943T= (p.Cys315=)
19g.18787584A>CCA404888456COMPc.1042T>G (p.Cys348Gly)
c.883T>G (p.Cys295Gly)
c.943T>G (p.Cys315Gly)
19g.18787584A>GCA254703COMPc.1042T>C (p.Cys348Arg)
c.883T>C (p.Cys295Arg)
c.943T>C (p.Cys315Arg)
 ClinVar dbSNP
19g.18787584A>TCA404888453COMPc.1042T>A (p.Cys348Ser)
c.883T>A (p.Cys295Ser)
c.943T>A (p.Cys315Ser)
19g.18787585C>ACA506053094COMPc.1041G>T (p.Ala347=)
c.882G>T (p.Ala294=)
c.942G>T (p.Ala314=)
 gnomAD v4
19g.18787585C>GCA506053096COMPc.1041G>C (p.Ala347=)
c.882G>C (p.Ala294=)
c.942G>C (p.Ala314=)
19g.18787585C>TCA506053095COMPc.1041G>A (p.Ala347=)
c.882G>A (p.Ala294=)
c.942G>A (p.Ala314=)
 gnomAD v4
19g.18787586G>ACA404888461COMPc.1040C>T (p.Ala347Val)
c.881C>T (p.Ala294Val)
c.941C>T (p.Ala314Val)
 gnomAD v4
19g.18787586G>CCA404888463COMPc.1040C>G (p.Ala347Gly)
c.881C>G (p.Ala294Gly)
c.941C>G (p.Ala314Gly)
19g.18787586G=CA2326526064COMPc.1040C= (p.Ala347=)
c.881C= (p.Ala294=)
c.941C= (p.Ala314=)
19g.18787586G>TCA9316555COMPc.1040C>A (p.Ala347Glu)
c.881C>A (p.Ala294Glu)
c.941C>A (p.Ala314Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18787587C>ACA404888466COMPc.1039G>T (p.Ala347Ser)
c.880G>T (p.Ala294Ser)
c.940G>T (p.Ala314Ser)
19g.18787587C=CA2326526067COMPc.1039G= (p.Ala347=)
c.880G= (p.Ala294=)
c.940G= (p.Ala314=)
19g.18787587C>GCA404888468COMPc.1039G>C (p.Ala347Pro)
c.880G>C (p.Ala294Pro)
c.940G>C (p.Ala314Pro)
 dbSNP
19g.18787587C>TCA404888472COMPc.1039G>A (p.Ala347Thr)
c.880G>A (p.Ala294Thr)
c.940G>A (p.Ala314Thr)
 gnomAD v4
19g.18787588A>CCA404888480COMPc.1038T>G (p.Asp346Glu)
c.879T>G (p.Asp293Glu)
c.939T>G (p.Asp313Glu)
19g.18787588A>GCA506053097COMPc.1038T>C (p.Asp346=)
c.879T>C (p.Asp293=)
c.939T>C (p.Asp313=)
19g.18787588A>TCA404888479COMPc.1038T>A (p.Asp346Glu)
c.879T>A (p.Asp293Glu)
c.939T>A (p.Asp313Glu)
19g.18787589T>ACA404888484COMPc.1037A>T (p.Asp346Val)
c.878A>T (p.Asp293Val)
c.938A>T (p.Asp313Val)
 dbSNP
19g.18787589T>CCA404888485COMPc.1037A>G (p.Asp346Gly)
c.878A>G (p.Asp293Gly)
c.938A>G (p.Asp313Gly)
19g.18787589T>GCA404888487COMPc.1037A>C (p.Asp346Ala)
c.878A>C (p.Asp293Ala)
c.938A>C (p.Asp313Ala)
19g.18787589T=CA2326526069COMPc.1037A= (p.Asp346=)
c.878A= (p.Asp293=)
c.938A= (p.Asp313=)
19g.18787590C>ACA9316556COMPc.1036G>T (p.Asp346Tyr)
c.877G>T (p.Asp293Tyr)
c.937G>T (p.Asp313Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18787590C=CA2326526072COMPc.1036G= (p.Asp346=)
c.877G= (p.Asp293=)
c.937G= (p.Asp313=)
19g.18787590C>GCA404888492COMPc.1036G>C (p.Asp346His)
c.877G>C (p.Asp293His)
c.937G>C (p.Asp313His)
19g.18787590C>TCA404888494COMPc.1036G>A (p.Asp346Asn)
c.877G>A (p.Asp293Asn)
c.937G>A (p.Asp313Asn)
19g.18787591G>ACA506053098COMPc.1035C>T (p.Gly345=)
c.876C>T (p.Gly292=)
c.936C>T (p.Gly312=)
19g.18787591G>CCA506053099COMPc.1035C>G (p.Gly345=)
c.876C>G (p.Gly292=)
c.936C>G (p.Gly312=)
19g.18787591G=CA2326526074COMPc.1035C= (p.Gly345=)
c.876C= (p.Gly292=)
c.936C= (p.Gly312=)
19g.18787591G>TCA506053100COMPc.1035C>A (p.Gly345=)
c.876C>A (p.Gly292=)
c.936C>A (p.Gly312=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18787592C>ACA404888497COMPc.1034G>T (p.Gly345Val)
c.875G>T (p.Gly292Val)
c.935G>T (p.Gly312Val)
19g.18787592C>GCA404888500COMPc.1034G>C (p.Gly345Ala)
c.875G>C (p.Gly292Ala)
c.935G>C (p.Gly312Ala)
19g.18787592C>TCA404888499COMPc.1034G>A (p.Gly345Asp)
c.875G>A (p.Gly292Asp)
c.935G>A (p.Gly312Asp)
19g.18787593_18787595delCA2695228441COMPc.1032_1034del (p.Trp344_Gly345delinsCys)
c.873_875del (p.Trp291_Gly292delinsCys)
c.933_935del (p.Trp311_Gly312delinsCys)
19g.18787593C>ACA404888504COMPc.1033G>T (p.Gly345Cys)
c.874G>T (p.Gly292Cys)
c.934G>T (p.Gly312Cys)
19g.18787593C>GCA404888507COMPc.1033G>C (p.Gly345Arg)
c.874G>C (p.Gly292Arg)
c.934G>C (p.Gly312Arg)
19g.18787593C>TCA404888509COMPc.1033G>A (p.Gly345Ser)
c.874G>A (p.Gly292Ser)
c.934G>A (p.Gly312Ser)
19g.18787594C>ACA404888512COMPc.1032G>T (p.Trp344Cys)
c.873G>T (p.Trp291Cys)
c.933G>T (p.Trp311Cys)
19g.18787594C=CA2326526078COMPc.1032G= (p.Trp344=)
c.873G= (p.Trp291=)
c.933G= (p.Trp311=)
19g.18787594C>GCA404888514COMPc.1032G>C (p.Trp344Cys)
c.873G>C (p.Trp291Cys)
c.933G>C (p.Trp311Cys)
 gnomAD v4
19g.18787594C>TCA404888522COMPc.1032G>A (p.Trp344Ter)
c.873G>A (p.Trp291Ter)
c.933G>A (p.Trp311Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18787595C>ACA404888526COMPc.1031G>T (p.Trp344Leu)
c.872G>T (p.Trp291Leu)
c.932G>T (p.Trp311Leu)
 gnomAD v4
19g.18787595C=CA2326526081COMPc.1031G= (p.Trp344=)
c.872G= (p.Trp291=)
c.932G= (p.Trp311=)
19g.18787595C>GCA9316557COMPc.1031G>C (p.Trp344Ser)
c.872G>C (p.Trp291Ser)
c.932G>C (p.Trp311Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787595C>TCA404888530COMPc.1031G>A (p.Trp344Ter)
c.872G>A (p.Trp291Ter)
c.932G>A (p.Trp311Ter)
19g.18787596A=CA2326526084COMPc.1030T= (p.Trp344=)
c.871T= (p.Trp291=)
c.931T= (p.Trp311=)
19g.18787596A>CCA404888531COMPc.1030T>G (p.Trp344Gly)
c.871T>G (p.Trp291Gly)
c.931T>G (p.Trp311Gly)
 dbSNP
19g.18787596A>GCA404888532COMPc.1030T>C (p.Trp344Arg)
c.871T>C (p.Trp291Arg)
c.931T>C (p.Trp311Arg)
 gnomAD v4
19g.18787596A>TCA404888534COMPc.1030T>A (p.Trp344Arg)
c.871T>A (p.Trp291Arg)
c.931T>A (p.Trp311Arg)
 gnomAD v4
19g.18787597C>ACA404888539COMPc.1029G>T (p.Lys343Asn)
c.870G>T (p.Lys290Asn)
c.930G>T (p.Lys310Asn)
19g.18787597C>GCA404888537COMPc.1029G>C (p.Lys343Asn)
c.870G>C (p.Lys290Asn)
c.930G>C (p.Lys310Asn)
19g.18787597C>TCA506053101COMPc.1029G>A (p.Lys343=)
c.870G>A (p.Lys290=)
c.930G>A (p.Lys310=)
19g.18787598T>ACA404888543COMPc.1028A>T (p.Lys343Met)
c.869A>T (p.Lys290Met)
c.929A>T (p.Lys310Met)
19g.18787598T>CCA404888547COMPc.1028A>G (p.Lys343Arg)
c.869A>G (p.Lys290Arg)
c.929A>G (p.Lys310Arg)
19g.18787598T>GCA404888545COMPc.1028A>C (p.Lys343Thr)
c.869A>C (p.Lys290Thr)
c.929A>C (p.Lys310Thr)
19g.18787599T>ACA404888552COMPc.1027A>T (p.Lys343Ter)
c.868A>T (p.Lys290Ter)
c.928A>T (p.Lys310Ter)
19g.18787599T>CCA404888562COMPc.1027A>G (p.Lys343Glu)
c.868A>G (p.Lys290Glu)
c.928A>G (p.Lys310Glu)
19g.18787599T>GCA404888566COMPc.1027A>C (p.Lys343Gln)
c.868A>C (p.Lys290Gln)
c.928A>C (p.Lys310Gln)
19g.18787600_18787601delCA2583622633COMPc.1026_1027del (p.Asp342GlufsTer?)
c.867_868del (p.Asp289GlufsTer?)
c.927_928del (p.Asp309GlufsTer?)
 gnomAD v4
19g.18787599_18787605delinsTGTCCTCCA2326526086COMPc.1021_1027delinsGAGGACA (p.Glu341=)
c.862_868delinsGAGGACA (p.Glu288=)
c.922_928delinsGAGGACA (p.Glu308=)
19g.18787600G>ACA506053102COMPc.1026C>T (p.Asp342=)
c.867C>T (p.Asp289=)
c.927C>T (p.Asp309=)
19g.18787600G>CCA404888571COMPc.1026C>G (p.Asp342Glu)
c.867C>G (p.Asp289Glu)
c.927C>G (p.Asp309Glu)
19g.18787600G>TCA404888587COMPc.1026C>A (p.Asp342Glu)
c.867C>A (p.Asp289Glu)
c.927C>A (p.Asp309Glu)
19g.18787604_18787609delCA16620814COMPc.1021_1026del (p.Glu341_Asp342del)
c.862_867del (p.Glu288_Asp289del)
c.922_927del (p.Glu308_Asp309del)
 ClinVar dbSNP
19g.18787601T>ACA404888594COMPc.1025A>T (p.Asp342Val)
c.866A>T (p.Asp289Val)
c.926A>T (p.Asp309Val)
19g.18787601T>CCA404888597COMPc.1025A>G (p.Asp342Gly)
c.866A>G (p.Asp289Gly)
c.926A>G (p.Asp309Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18787601T>GCA404888601COMPc.1025A>C (p.Asp342Ala)
c.866A>C (p.Asp289Ala)
c.926A>C (p.Asp309Ala)
19g.18787601T=CA2326526094COMPc.1025A= (p.Asp342=)
c.866A= (p.Asp289=)
c.926A= (p.Asp309=)
19g.18787603_18787605delCA2695228442COMPc.1023_1025del (p.Glu341del)
c.864_866del (p.Glu288del)
c.924_926del (p.Glu308del)
19g.18787602C>ACA120166COMPc.1024G>T (p.Asp342Tyr)
c.865G>T (p.Asp289Tyr)
c.925G>T (p.Asp309Tyr)
 ClinVar dbSNP
19g.18787602C=CA2326526099COMPc.1024G= (p.Asp342=)
c.865G= (p.Asp289=)
c.925G= (p.Asp309=)
19g.18787602C>GCA404888619COMPc.1024G>C (p.Asp342His)
c.865G>C (p.Asp289His)
c.925G>C (p.Asp309His)
19g.18787602C>TCA404888622COMPc.1024G>A (p.Asp342Asn)
c.865G>A (p.Asp289Asn)
c.925G>A (p.Asp309Asn)
19g.18787603C>ACA404888625COMPc.1023G>T (p.Glu341Asp)
c.864G>T (p.Glu288Asp)
c.924G>T (p.Glu308Asp)
19g.18787603C>GCA404888626COMPc.1023G>C (p.Glu341Asp)
c.864G>C (p.Glu288Asp)
c.924G>C (p.Glu308Asp)
19g.18787603C>TCA506053103COMPc.1023G>A (p.Glu341=)
c.864G>A (p.Glu288=)
c.924G>A (p.Glu308=)
19g.18787604T>ACA404888631COMPc.1022A>T (p.Glu341Val)
c.863A>T (p.Glu288Val)
c.923A>T (p.Glu308Val)
19g.18787604T>CCA404888628COMPc.1022A>G (p.Glu341Gly)
c.863A>G (p.Glu288Gly)
c.923A>G (p.Glu308Gly)
 dbSNP
19g.18787604T>GCA404888629COMPc.1022A>C (p.Glu341Ala)
c.863A>C (p.Glu288Ala)
c.923A>C (p.Glu308Ala)
19g.18787604T=CA2326526106COMPc.1022A= (p.Glu341=)
c.863A= (p.Glu288=)
c.923A= (p.Glu308=)
19g.18787605C>ACA404888632COMPc.1021G>T (p.Glu341Ter)
c.862G>T (p.Glu288Ter)
c.922G>T (p.Glu308Ter)
19g.18787605C=CA2326526114COMPc.1021G= (p.Glu341=)
c.862G= (p.Glu288=)
c.922G= (p.Glu308=)
19g.18787605C>GCA404888635COMPc.1021G>C (p.Glu341Gln)
c.862G>C (p.Glu288Gln)
c.922G>C (p.Glu308Gln)
 gnomAD v4
19g.18787605C>TCA9316558COMPc.1021G>A (p.Glu341Lys)
c.862G>A (p.Glu288Lys)
c.922G>A (p.Glu308Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.18787606G>ACA506053104COMPc.1020C>T (p.Asp340=)
c.861C>T (p.Asp287=)
c.921C>T (p.Asp307=)
 gnomAD v4
19g.18787606G>CCA306256700COMPc.1020C>G (p.Asp340Glu)
c.861C>G (p.Asp287Glu)
c.921C>G (p.Asp307Glu)
 dbSNP gnomAD v3 gnomAD v4
19g.18787606G=CA2326526116COMPc.1020C= (p.Asp340=)
c.861C= (p.Asp287=)
c.921C= (p.Asp307=)
19g.18787606G>TCA404888639COMPc.1020C>A (p.Asp340Glu)
c.861C>A (p.Asp287Glu)
c.921C>A (p.Asp307Glu)
19g.18787607T>ACA404888642COMPc.1019A>T (p.Asp340Val)
c.860A>T (p.Asp287Val)
c.920A>T (p.Asp307Val)
19g.18787607T>CCA404888644COMPc.1019A>G (p.Asp340Gly)
c.860A>G (p.Asp287Gly)
c.920A>G (p.Asp307Gly)
19g.18787607T>GCA404888646COMPc.1019A>C (p.Asp340Ala)
c.860A>C (p.Asp287Ala)
c.920A>C (p.Asp307Ala)
19g.18787608C>ACA404888648COMPc.1018G>T (p.Asp340Tyr)
c.859G>T (p.Asp287Tyr)
c.919G>T (p.Asp307Tyr)
19g.18787608C>GCA404888649COMPc.1018G>C (p.Asp340His)
c.859G>C (p.Asp287His)
c.919G>C (p.Asp307His)
 COSMIC
19g.18787608C>TCA404888650COMPc.1018G>A (p.Asp340Asn)
c.859G>A (p.Asp287Asn)
c.919G>A (p.Asp307Asn)
 gnomAD v4
19g.18787609C>ACA506053105COMPc.1017G>T (p.Thr339=)
c.858G>T (p.Thr286=)
c.918G>T (p.Thr306=)
19g.18787609C=CA2326526119COMPc.1017G= (p.Thr339=)
c.858G= (p.Thr286=)
c.918G= (p.Thr306=)
19g.18787609C>GCA506053106COMPc.1017G>C (p.Thr339=)
c.858G>C (p.Thr286=)
c.918G>C (p.Thr306=)
 gnomAD v4
19g.18787609C>TCA506053107COMPc.1017G>A (p.Thr339=)
c.858G>A (p.Thr286=)
c.918G>A (p.Thr306=)
 dbSNP gnomAD v2 gnomAD v4
19g.18787610G>ACA9316559COMPc.1016C>T (p.Thr339Met)
c.857C>T (p.Thr286Met)
c.917C>T (p.Thr306Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18787610G>CCA404888654COMPc.1016C>G (p.Thr339Arg)
c.857C>G (p.Thr286Arg)
c.917C>G (p.Thr306Arg)
19g.18787610G=CA2326526121COMPc.1016C= (p.Thr339=)
c.857C= (p.Thr286=)
c.917C= (p.Thr306=)
19g.18787610G>TCA404888653COMPc.1016C>A (p.Thr339Lys)
c.857C>A (p.Thr286Lys)
c.917C>A (p.Thr306Lys)
19g.18787611T>ACA404888656COMPc.1015A>T (p.Thr339Ser)
c.856A>T (p.Thr286Ser)
c.916A>T (p.Thr306Ser)
19g.18787611T>CCA404888658COMPc.1015A>G (p.Thr339Ala)
c.856A>G (p.Thr286Ala)
c.916A>G (p.Thr306Ala)
 gnomAD v4
19g.18787611T>GCA404888660COMPc.1015A>C (p.Thr339Pro)
c.856A>C (p.Thr286Pro)
c.916A>C (p.Thr306Pro)
19g.18787611_18787626delinsTGTTGCGCTGGTCTGGCA2326526124COMPc.1000_1015delinsCCAGACCAGCGCAACA (p.Pro334=)
c.841_856delinsCCAGACCAGCGCAACA (p.Pro281=)
c.901_916delinsCCAGACCAGCGCAACA (p.Pro301=)
19g.18787612G>ACA306256713COMPc.1014C>T (p.Asn338=)
c.855C>T (p.Asn285=)
c.915C>T (p.Asn305=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.18787612G>CCA404888676COMPc.1014C>G (p.Asn338Lys)
c.855C>G (p.Asn285Lys)
c.915C>G (p.Asn305Lys)
19g.18787612G=CA2326526130COMPc.1014C= (p.Asn338=)
c.855C= (p.Asn285=)
c.915C= (p.Asn305=)
19g.18787612G>TCA404888678COMPc.1014C>A (p.Asn338Lys)
c.855C>A (p.Asn285Lys)
c.915C>A (p.Asn305Lys)
19g.18787615_18787629delCA915952951COMPc.1000_1014del (p.Pro334_Asn338del)
c.841_855del (p.Pro281_Asn285del)
c.901_915del (p.Pro301_Asn305del)
 ClinVar dbSNP
19g.18787613T>ACA404888681COMPc.1013A>T (p.Asn338Ile)
c.854A>T (p.Asn285Ile)
c.914A>T (p.Asn305Ile)
19g.18787613T>CCA404888682COMPc.1013A>G (p.Asn338Ser)
c.854A>G (p.Asn285Ser)
c.914A>G (p.Asn305Ser)
19g.18787613T>GCA404888683COMPc.1013A>C (p.Asn338Thr)
c.854A>C (p.Asn285Thr)
c.914A>C (p.Asn305Thr)
19g.18787614T>ACA404888684COMPc.1012A>T (p.Asn338Tyr)
c.853A>T (p.Asn285Tyr)
c.913A>T (p.Asn305Tyr)
19g.18787614T>CCA404888685COMPc.1012A>G (p.Asn338Asp)
c.853A>G (p.Asn285Asp)
c.913A>G (p.Asn305Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18787614T>GCA404888686COMPc.1012A>C (p.Asn338His)
c.853A>C (p.Asn285His)
c.913A>C (p.Asn305His)
19g.18787614T=CA2326526133COMPc.1012A= (p.Asn338=)
c.853A= (p.Asn285=)
c.913A= (p.Asn305=)
19g.18787615G>ACA506053108COMPc.1011C>T (p.Arg337=)
c.852C>T (p.Arg284=)
c.912C>T (p.Arg304=)
19g.18787615G>CCA506053109COMPc.1011C>G (p.Arg337=)
c.852C>G (p.Arg284=)
c.912C>G (p.Arg304=)
19g.18787615G>TCA506053110COMPc.1011C>A (p.Arg337=)
c.852C>A (p.Arg284=)
c.912C>A (p.Arg304=)
19g.18787616C>ACA404888691COMPc.1010G>T (p.Arg337Leu)
c.851G>T (p.Arg284Leu)
c.911G>T (p.Arg304Leu)
19g.18787616C=CA2326526136COMPc.1010G= (p.Arg337=)
c.851G= (p.Arg284=)
c.911G= (p.Arg304=)
19g.18787616C>GCA404888697COMPc.1010G>C (p.Arg337Pro)
c.851G>C (p.Arg284Pro)
c.911G>C (p.Arg304Pro)
19g.18787616C>TCA404888689COMPc.1010G>A (p.Arg337His)
c.851G>A (p.Arg284His)
c.911G>A (p.Arg304His)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.18787617G>ACA404888701COMPc.1009C>T (p.Arg337Cys)
c.850C>T (p.Arg284Cys)
c.910C>T (p.Arg304Cys)
 gnomAD v4 COSMIC
19g.18787617G>CCA404888703COMPc.1009C>G (p.Arg337Gly)
c.850C>G (p.Arg284Gly)
c.910C>G (p.Arg304Gly)
19g.18787617G=CA2326526138COMPc.1009C= (p.Arg337=)
c.850C= (p.Arg284=)
c.910C= (p.Arg304=)
19g.18787617G>TCA404888704COMPc.1009C>A (p.Arg337Ser)
c.850C>A (p.Arg284Ser)
c.910C>A (p.Arg304Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18787618C>ACA404888707COMPc.1008G>T (p.Gln336His)
c.849G>T (p.Gln283His)
c.909G>T (p.Gln303His)
19g.18787618C>GCA404888710COMPc.1008G>C (p.Gln336His)
c.849G>C (p.Gln283His)
c.909G>C (p.Gln303His)
19g.18787618C>TCA506053111COMPc.1008G>A (p.Gln336=)
c.849G>A (p.Gln283=)
c.909G>A (p.Gln303=)
 COSMIC
19g.18787619T>ACA404888719COMPc.1007A>T (p.Gln336Leu)
c.848A>T (p.Gln283Leu)
c.908A>T (p.Gln303Leu)
19g.18787619T>CCA404888714COMPc.1007A>G (p.Gln336Arg)
c.848A>G (p.Gln283Arg)
c.908A>G (p.Gln303Arg)
19g.18787619T>GCA404888716COMPc.1007A>C (p.Gln336Pro)
c.848A>C (p.Gln283Pro)
c.908A>C (p.Gln303Pro)
19g.18787620G>ACA404888723COMPc.1006C>T (p.Gln336Ter)
c.847C>T (p.Gln283Ter)
c.907C>T (p.Gln303Ter)
19g.18787620G>CCA404888725COMPc.1006C>G (p.Gln336Glu)
c.847C>G (p.Gln283Glu)
c.907C>G (p.Gln303Glu)
19g.18787620G>TCA404888726COMPc.1006C>A (p.Gln336Lys)
c.847C>A (p.Gln283Lys)
c.907C>A (p.Gln303Lys)
19g.18787621G>ACA506053112COMPc.1005C>T (p.Asp335=)
c.846C>T (p.Asp282=)
c.906C>T (p.Asp302=)
19g.18787621G>CCA404888728COMPc.1005C>G (p.Asp335Glu)
c.846C>G (p.Asp282Glu)
c.906C>G (p.Asp302Glu)
19g.18787621G>TCA404888731COMPc.1005C>A (p.Asp335Glu)
c.846C>A (p.Asp282Glu)
c.906C>A (p.Asp302Glu)
19g.18787622T>ACA404888732COMPc.1004A>T (p.Asp335Val)
c.845A>T (p.Asp282Val)
c.905A>T (p.Asp302Val)
19g.18787622T>CCA404888736COMPc.1004A>G (p.Asp335Gly)
c.845A>G (p.Asp282Gly)
c.905A>G (p.Asp302Gly)
19g.18787622T>GCA404888734COMPc.1004A>C (p.Asp335Ala)
c.845A>C (p.Asp282Ala)
c.905A>C (p.Asp302Ala)
 gnomAD v4
19g.18787623C>ACA404888741COMPc.1003G>T (p.Asp335Tyr)
c.844G>T (p.Asp282Tyr)
c.904G>T (p.Asp302Tyr)
 COSMIC
19g.18787623C>GCA404888745COMPc.1003G>C (p.Asp335His)
c.844G>C (p.Asp282His)
c.904G>C (p.Asp302His)
19g.18787623C>TCA404888743COMPc.1003G>A (p.Asp335Asn)
c.844G>A (p.Asp282Asn)
c.904G>A (p.Asp302Asn)
19g.18787624T>ACA506053115COMPc.1002A>T (p.Pro334=)
c.843A>T (p.Pro281=)
c.903A>T (p.Pro301=)
19g.18787624T>CCA506053113COMPc.1002A>G (p.Pro334=)
c.843A>G (p.Pro281=)
c.903A>G (p.Pro301=)
 dbSNP
19g.18787624T>GCA506053114COMPc.1002A>C (p.Pro334=)
c.843A>C (p.Pro281=)
c.903A>C (p.Pro301=)
 gnomAD v4
19g.18787624T=CA2326526142COMPc.1002A= (p.Pro334=)
c.843A= (p.Pro281=)
c.903A= (p.Pro301=)
19g.18787625G>ACA404888748COMPc.1001C>T (p.Pro334Leu)
c.842C>T (p.Pro281Leu)
c.902C>T (p.Pro301Leu)
19g.18787625G>CCA404888763COMPc.1001C>G (p.Pro334Arg)
c.842C>G (p.Pro281Arg)
c.902C>G (p.Pro301Arg)
19g.18787625G>TCA404888759COMPc.1001C>A (p.Pro334Gln)
c.842C>A (p.Pro281Gln)
c.902C>A (p.Pro301Gln)
19g.18787626G>ACA404888766COMPc.1000C>T (p.Pro334Ser)
c.841C>T (p.Pro281Ser)
c.901C>T (p.Pro301Ser)
19g.18787626G>CCA404888770COMPc.1000C>G (p.Pro334Ala)
c.841C>G (p.Pro281Ala)
c.901C>G (p.Pro301Ala)
19g.18787626G>TCA404888767COMPc.1000C>A (p.Pro334Thr)
c.841C>A (p.Pro281Thr)
c.901C>A (p.Pro301Thr)
 gnomAD v4
19g.18787627G>ACA506053116COMPc.999C>T (p.Asn333=)
c.840C>T (p.Asn280=)
c.900C>T (p.Asn300=)
19g.18787627G>CCA404888773COMPc.999C>G (p.Asn333Lys)
c.840C>G (p.Asn280Lys)
c.900C>G (p.Asn300Lys)
19g.18787627G>TCA404888774COMPc.999C>A (p.Asn333Lys)
c.840C>A (p.Asn280Lys)
c.900C>A (p.Asn300Lys)
19g.18787628T>ACA404888776COMPc.998A>T (p.Asn333Ile)
c.839A>T (p.Asn280Ile)
c.899A>T (p.Asn300Ile)
19g.18787628T>CCA404888778COMPc.998A>G (p.Asn333Ser)
c.839A>G (p.Asn280Ser)
c.899A>G (p.Asn300Ser)
19g.18787628T>GCA404888781COMPc.998A>C (p.Asn333Thr)
c.839A>C (p.Asn280Thr)
c.899A>C (p.Asn300Thr)
19g.18787629T>ACA404888782COMPc.997A>T (p.Asn333Tyr)
c.838A>T (p.Asn280Tyr)
c.898A>T (p.Asn300Tyr)
19g.18787629T>CCA404888783COMPc.997A>G (p.Asn333Asp)
c.838A>G (p.Asn280Asp)
c.898A>G (p.Asn300Asp)
19g.18787629T>GCA404888785COMPc.997A>C (p.Asn333His)
c.838A>C (p.Asn280His)
c.898A>C (p.Asn300His)
 dbSNP gnomAD v3 gnomAD v4
19g.18787629T=CA2326526145COMPc.997A= (p.Asn333=)
c.838A= (p.Asn280=)
c.898A= (p.Asn300=)
19g.18787630C>ACA506053117COMPc.996G>T (p.Arg332=)
c.837G>T (p.Arg279=)
c.897G>T (p.Arg299=)
19g.18787630C>GCA506053118COMPc.996G>C (p.Arg332=)
c.837G>C (p.Arg279=)
c.897G>C (p.Arg299=)
 gnomAD v4
19g.18787630C>TCA506053119COMPc.996G>A (p.Arg332=)
c.837G>A (p.Arg279=)
c.897G>A (p.Arg299=)
19g.18787631C>ACA404888791COMPc.995G>T (p.Arg332Leu)
c.836G>T (p.Arg279Leu)
c.896G>T (p.Arg299Leu)
 gnomAD v4
19g.18787631C=CA2326526149COMPc.995G= (p.Arg332=)
c.836G= (p.Arg279=)
c.896G= (p.Arg299=)
19g.18787631C>GCA404888794COMPc.995G>C (p.Arg332Pro)
c.836G>C (p.Arg279Pro)
c.896G>C (p.Arg299Pro)
19g.18787631C>TCA306256718COMPc.995G>A (p.Arg332Gln)
c.836G>A (p.Arg279Gln)
c.896G>A (p.Arg299Gln)
 dbSNP gnomAD v4
19g.18787632G>ACA306256723COMPc.994C>T (p.Arg332Trp)
c.835C>T (p.Arg279Trp)
c.895C>T (p.Arg299Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18787632G>CCA404888805COMPc.994C>G (p.Arg332Gly)
c.835C>G (p.Arg279Gly)
c.895C>G (p.Arg299Gly)
19g.18787632G=CA2326526157COMPc.994C= (p.Arg332=)
c.835C= (p.Arg279=)
c.895C= (p.Arg299=)
19g.18787632G>TCA9316560COMPc.994C>A (p.Arg332=)
c.835C>A (p.Arg279=)
c.895C>A (p.Arg299=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787633C>ACA506053120COMPc.993G>T (p.Val331=)
c.834G>T (p.Val278=)
c.894G>T (p.Val298=)
19g.18787633C>GCA506053121COMPc.993G>C (p.Val331=)
c.834G>C (p.Val278=)
c.894G>C (p.Val298=)
19g.18787633C>TCA506053122COMPc.993G>A (p.Val331=)
c.834G>A (p.Val278=)
c.894G>A (p.Val298=)
19g.18787634delCA2582001305COMPc.992del (p.Val331GlyfsTer?)
c.833del (p.Val278GlyfsTer?)
c.893del (p.Val298GlyfsTer?)
 gnomAD v3 gnomAD v4
19g.18787634A=CA2326526163COMPc.992T= (p.Val331=)
c.833T= (p.Val278=)
c.893T= (p.Val298=)
19g.18787634A>CCA404890313COMPc.992T>G (p.Val331Gly)
c.833T>G (p.Val278Gly)
c.893T>G (p.Val298Gly)
19g.18787634A>GCA404890317COMPc.992T>C (p.Val331Ala)
c.833T>C (p.Val278Ala)
c.893T>C (p.Val298Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.18787634A>TCA404890321COMPc.992T>A (p.Val331Glu)
c.833T>A (p.Val278Glu)
c.893T>A (p.Val298Glu)
19g.18787635C>ACA404890324COMPc.991G>T (p.Val331Leu)
c.832G>T (p.Val278Leu)
c.892G>T (p.Val298Leu)
19g.18787635C>GCA404890325COMPc.991G>C (p.Val331Leu)
c.832G>C (p.Val278Leu)
c.892G>C (p.Val298Leu)
19g.18787635C>TCA404890329COMPc.991G>A (p.Val331Met)
c.832G>A (p.Val278Met)
c.892G>A (p.Val298Met)
 gnomAD v3 gnomAD v4
19g.18787636C>ACA506053123COMPc.990G>T (p.Leu330=)
c.831G>T (p.Leu277=)
c.891G>T (p.Leu297=)
19g.18787636C=CA2326526166COMPc.990G= (p.Leu330=)
c.831G= (p.Leu277=)
c.891G= (p.Leu297=)
19g.18787636C>GCA506053124COMPc.990G>C (p.Leu330=)
c.831G>C (p.Leu277=)
c.891G>C (p.Leu297=)
19g.18787636C>TCA506053125COMPc.990G>A (p.Leu330=)
c.831G>A (p.Leu277=)
c.891G>A (p.Leu297=)
 dbSNP gnomAD v4
19g.18787637A=CA2326526170COMPc.989T= (p.Leu330=)
c.830T= (p.Leu277=)
c.890T= (p.Leu297=)
19g.18787637A>CCA404890335COMPc.989T>G (p.Leu330Arg)
c.830T>G (p.Leu277Arg)
c.890T>G (p.Leu297Arg)
19g.18787637A>GCA404890341COMPc.989T>C (p.Leu330Pro)
c.830T>C (p.Leu277Pro)
c.890T>C (p.Leu297Pro)
 dbSNP gnomAD v2 gnomAD v4
19g.18787637A>TCA404890348COMPc.989T>A (p.Leu330Gln)
c.830T>A (p.Leu277Gln)
c.890T>A (p.Leu297Gln)
19g.18787638G>ACA506053126COMPc.988C>T (p.Leu330=)
c.829C>T (p.Leu277=)
c.889C>T (p.Leu297=)
 COSMIC
19g.18787638G>CCA404890356COMPc.988C>G (p.Leu330Val)
c.829C>G (p.Leu277Val)
c.889C>G (p.Leu297Val)
 ClinVar gnomAD v4
19g.18787638G>TCA404890360COMPc.988C>A (p.Leu330Met)
c.829C>A (p.Leu277Met)
c.889C>A (p.Leu297Met)
19g.18787640_18787643delCA2695228443COMPc.985_988del (p.Pro329TrpfsTer?)
c.826_829del (p.Pro276TrpfsTer?)
c.886_889del (p.Pro296TrpfsTer?)
19g.18787639C>ACA506053127COMPc.987G>T (p.Pro329=)
c.828G>T (p.Pro276=)
c.888G>T (p.Pro296=)
19g.18787639C=CA2326526174COMPc.987G= (p.Pro329=)
c.828G= (p.Pro276=)
c.888G= (p.Pro296=)
19g.18787639C>GCA506053128COMPc.987G>C (p.Pro329=)
c.828G>C (p.Pro276=)
c.888G>C (p.Pro296=)
19g.18787639C>TCA506053129COMPc.987G>A (p.Pro329=)
c.828G>A (p.Pro276=)
c.888G>A (p.Pro296=)
 dbSNP gnomAD v2 gnomAD v4
19g.18787640G>ACA404890373COMPc.986C>T (p.Pro329Leu)
c.827C>T (p.Pro276Leu)
c.887C>T (p.Pro296Leu)
19g.18787640G>CCA404890378COMPc.986C>G (p.Pro329Arg)
c.827C>G (p.Pro276Arg)
c.887C>G (p.Pro296Arg)
19g.18787640G>TCA404890368COMPc.986C>A (p.Pro329Gln)
c.827C>A (p.Pro276Gln)
c.887C>A (p.Pro296Gln)
19g.18787641G>ACA404890382COMPc.985C>T (p.Pro329Ser)
c.826C>T (p.Pro276Ser)
c.886C>T (p.Pro296Ser)
19g.18787641G>CCA404890405COMPc.985C>G (p.Pro329Ala)
c.826C>G (p.Pro276Ala)
c.886C>G (p.Pro296Ala)
19g.18787641G>TCA404890411COMPc.985C>A (p.Pro329Thr)
c.826C>A (p.Pro276Thr)
c.886C>A (p.Pro296Thr)
19g.18787642G>ACA506053130COMPc.984C>T (p.Cys328=)
c.825C>T (p.Cys275=)
c.885C>T (p.Cys295=)
19g.18787642G>CCA404890417COMPc.984C>G (p.Cys328Trp)
c.825C>G (p.Cys275Trp)
c.885C>G (p.Cys295Trp)
 ClinVar dbSNP
19g.18787642G=CA2326526177COMPc.984C= (p.Cys328=)
c.825C= (p.Cys275=)
c.885C= (p.Cys295=)
19g.18787642G>TCA404890419COMPc.984C>A (p.Cys328Ter)
c.825C>A (p.Cys275Ter)
c.885C>A (p.Cys295Ter)
19g.18787643C>ACA404890434COMPc.983G>T (p.Cys328Phe)
c.824G>T (p.Cys275Phe)
c.884G>T (p.Cys295Phe)
 ClinVar dbSNP
19g.18787643C>GCA404890422COMPc.983G>C (p.Cys328Ser)
c.824G>C (p.Cys275Ser)
c.884G>C (p.Cys295Ser)
19g.18787643C>TCA404890430COMPc.983G>A (p.Cys328Tyr)
c.824G>A (p.Cys275Tyr)
c.884G>A (p.Cys295Tyr)
 ClinVar
19g.18787644A=CA2326526182COMPc.982T= (p.Cys328=)
c.823T= (p.Cys275=)
c.883T= (p.Cys295=)
19g.18787644A>CCA404890440COMPc.982T>G (p.Cys328Gly)
c.823T>G (p.Cys275Gly)
c.883T>G (p.Cys295Gly)
19g.18787644A>GCA254702COMPc.982T>C (p.Cys328Arg)
c.823T>C (p.Cys275Arg)
c.883T>C (p.Cys295Arg)
 ClinVar dbSNP
19g.18787644A>TCA404890451COMPc.982T>A (p.Cys328Ser)
c.823T>A (p.Cys275Ser)
c.883T>A (p.Cys295Ser)
19g.18787645G>ACA506053131COMPc.981C>T (p.Asn327=)
c.822C>T (p.Asn274=)
c.882C>T (p.Asn294=)
 dbSNP
19g.18787645G>CCA404890456COMPc.981C>G (p.Asn327Lys)
c.822C>G (p.Asn274Lys)
c.882C>G (p.Asn294Lys)
19g.18787645G>TCA404890459COMPc.981C>A (p.Asn327Lys)
c.822C>A (p.Asn274Lys)
c.882C>A (p.Asn294Lys)
19g.18787646T>ACA404890468COMPc.980A>T (p.Asn327Ile)
c.821A>T (p.Asn274Ile)
c.881A>T (p.Asn294Ile)
19g.18787646T>CCA404890482COMPc.980A>G (p.Asn327Ser)
c.821A>G (p.Asn274Ser)
c.881A>G (p.Asn294Ser)
 gnomAD v4
19g.18787646T>GCA404890474COMPc.980A>C (p.Asn327Thr)
c.821A>C (p.Asn274Thr)
c.881A>C (p.Asn294Thr)
19g.18787647T>ACA404890489COMPc.979A>T (p.Asn327Tyr)
c.820A>T (p.Asn274Tyr)
c.880A>T (p.Asn294Tyr)
19g.18787647T>CCA404890494COMPc.979A>G (p.Asn327Asp)
c.820A>G (p.Asn274Asp)
c.880A>G (p.Asn294Asp)
 gnomAD v4
19g.18787647T>GCA404890498COMPc.979A>C (p.Asn327His)
c.820A>C (p.Asn274His)
c.880A>C (p.Asn294His)
19g.18787648G>ACA506053132COMPc.978C>T (p.Asp326=)
c.819C>T (p.Asp273=)
c.879C>T (p.Asp293=)
 dbSNP gnomAD v4
19g.18787648G>CCA404890520COMPc.978C>G (p.Asp326Glu)
c.819C>G (p.Asp273Glu)
c.879C>G (p.Asp293Glu)
19g.18787648G=CA2326526186COMPc.978C= (p.Asp326=)
c.819C= (p.Asp273=)
c.879C= (p.Asp293=)
19g.18787648G>TCA404890527COMPc.978C>A (p.Asp326Glu)
c.819C>A (p.Asp273Glu)
c.879C>A (p.Asp293Glu)
19g.18787649T>ACA404890535COMPc.977A>T (p.Asp326Val)
c.818A>T (p.Asp273Val)
c.878A>T (p.Asp293Val)
19g.18787649T>CCA404890539COMPc.977A>G (p.Asp326Gly)
c.818A>G (p.Asp273Gly)
c.878A>G (p.Asp293Gly)
19g.18787649T>GCA404890542COMPc.977A>C (p.Asp326Ala)
c.818A>C (p.Asp273Ala)
c.878A>C (p.Asp293Ala)
19g.18787650C>ACA404890548COMPc.976G>T (p.Asp326Tyr)
c.817G>T (p.Asp273Tyr)
c.877G>T (p.Asp293Tyr)
19g.18787650C>GCA404890554COMPc.976G>C (p.Asp326His)
c.817G>C (p.Asp273His)
c.877G>C (p.Asp293His)
19g.18787650C>TCA404890558COMPc.976G>A (p.Asp326Asn)
c.817G>A (p.Asp273Asn)
c.877G>A (p.Asp293Asn)
 ClinVar dbSNP
19g.18787651C>ACA404890566COMPc.976-1G>T (n.976-1G>T)
c.817-1G>T (n.817-1G>T)
c.877-1G>T (n.877-1G>T)
19g.18787651C>GCA404890570COMPc.976-1G>C (n.976-1G>C)
c.817-1G>C (n.817-1G>C)
c.877-1G>C (n.877-1G>C)
 gnomAD v4
19g.18787651C>TCA404890562COMPc.976-1G>A (n.976-1G>A)
c.817-1G>A (n.817-1G>A)
c.877-1G>A (n.877-1G>A)
 gnomAD v4
19g.18787652T>ACA404890574COMPc.976-2A>T (n.976-2A>T)
c.817-2A>T (n.817-2A>T)
c.877-2A>T (n.877-2A>T)
19g.18787652T>CCA404890578COMPc.976-2A>G (n.976-2A>G)
c.817-2A>G (n.817-2A>G)
c.877-2A>G (n.877-2A>G)
19g.18787652T>GCA404890581COMPc.976-2A>C (n.976-2A>C)
c.817-2A>C (n.817-2A>C)
c.877-2A>C (n.877-2A>C)
19g.18787653G>TCA645610811COMPc.976-3C>A (n.976-3C>A)
c.817-3C>A (n.817-3C>A)
c.877-3C>A (n.877-3C>A)
 COSMIC
19g.18787654G>ACA306256738COMPc.976-4C>T (n.976-4C>T)
c.817-4C>T (n.817-4C>T)
c.877-4C>T (n.877-4C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18787654G=CA2326526189COMPc.976-4C= (n.976-4C=)
c.817-4C= (n.817-4C=)
c.877-4C= (n.877-4C=)
19g.18787659C>GCA2813847477COMPc.976-9G>C (n.976-9G>C)
c.817-9G>C (n.817-9G>C)
c.877-9G>C (n.877-9G>C)
19g.18787659C>TCA2583622634COMPc.976-9G>A (n.976-9G>A)
c.817-9G>A (n.817-9G>A)
c.877-9G>A (n.877-9G>A)
 gnomAD v4
19g.18787662G>CCA2583622635COMPc.976-12C>G (n.976-12C>G)
c.817-12C>G (n.817-12C>G)
c.877-12C>G (n.877-12C>G)
 gnomAD v4
19g.18787662G=CA2326526191COMPc.976-12C= (n.976-12C=)
c.817-12C= (n.817-12C=)
c.877-12C= (n.877-12C=)
19g.18787662G>TCA632375737COMPc.976-12C>A (n.976-12C>A)
c.817-12C>A (n.817-12C>A)
c.877-12C>A (n.877-12C>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18787663G>ACA2326526195COMPc.976-13C>T (n.976-13C>T)
c.817-13C>T (n.817-13C>T)
c.877-13C>T (n.877-13C>T)
 dbSNP
19g.18787663G=CA2326526193COMPc.976-13C= (n.976-13C=)
c.817-13C= (n.817-13C=)
c.877-13C= (n.877-13C=)
19g.18787663G>TCA2583622636COMPc.976-13C>A (n.976-13C>A)
c.817-13C>A (n.817-13C>A)
c.877-13C>A (n.877-13C>A)
 gnomAD v4
19g.18787665G>TCA657075345COMPc.976-15C>A (n.976-15C>A)
c.817-15C>A (n.817-15C>A)
c.877-15C>A (n.877-15C>A)
 COSMIC
19g.18787665_18787681dupCA2583622637COMPc.976-31_976-15dup (n.976-31_976-15dup)
c.817-31_817-15dup (n.817-31_817-15dup)
c.877-31_877-15dup (n.877-31_877-15dup)
 gnomAD v4
19g.18787667G>ACA994237334COMPc.976-17C>T (n.976-17C>T)
c.817-17C>T (n.817-17C>T)
c.877-17C>T (n.877-17C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18787667G=CA2326526196COMPc.976-17C= (n.976-17C=)
c.817-17C= (n.817-17C=)
c.877-17C= (n.877-17C=)
19g.18787668T>CCA2583622638COMPc.976-18A>G (n.976-18A>G)
c.817-18A>G (n.817-18A>G)
c.877-18A>G (n.877-18A>G)
 gnomAD v4
19g.18787672G>TCA2583622639COMPc.976-22C>A (n.976-22C>A)
c.817-22C>A (n.817-22C>A)
c.877-22C>A (n.877-22C>A)
 gnomAD v4
19g.18787673G>ACA9316561COMPc.976-23C>T (n.976-23C>T)
c.817-23C>T (n.817-23C>T)
c.877-23C>T (n.877-23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787673G=CA2326526199COMPc.976-23C= (n.976-23C=)
c.817-23C= (n.817-23C=)
c.877-23C= (n.877-23C=)

Number of alleles fetched