Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.6277591C>ACA356169705WFS1n.306C>A
c.136C>A (p.Pro46Thr)
c.126C>A
c.-18+7577C>A (n.-18+7577C>A)
c.67-57C>A (n.67-57C>A)
c.145C>A (p.Pro49Thr)
4g.6277591C=CA1435762602WFS1n.306C=
c.136C= (p.Pro46=)
c.126C=
c.-18+7577C= (n.-18+7577C=)
c.67-57C= (n.67-57C=)
c.145C= (p.Pro49=)
4g.6277591C>GCA356169706WFS1n.306C>G
c.136C>G (p.Pro46Ala)
c.126C>G
c.-18+7577C>G (n.-18+7577C>G)
c.67-57C>G (n.67-57C>G)
c.145C>G (p.Pro49Ala)
4g.6277591C>TCA2838806WFS1n.306C>T
c.136C>T (p.Pro46Ser)
c.126C>T
c.-18+7577C>T (n.-18+7577C>T)
c.67-57C>T (n.67-57C>T)
c.145C>T (p.Pro49Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6277592C>ACA356169707WFS1n.307C>A
c.137C>A (p.Pro46His)
c.127C>A
c.-18+7578C>A (n.-18+7578C>A)
c.67-56C>A (n.67-56C>A)
c.146C>A (p.Pro49His)
 gnomAD v4
4g.6277592C>GCA356169708WFS1n.307C>G
c.137C>G (p.Pro46Arg)
c.127C>G
c.-18+7578C>G (n.-18+7578C>G)
c.67-56C>G (n.67-56C>G)
c.146C>G (p.Pro49Arg)
4g.6277592C>TCA356169709WFS1n.307C>T
c.137C>T (p.Pro46Leu)
c.127C>T
c.-18+7578C>T (n.-18+7578C>T)
c.67-56C>T (n.67-56C>T)
c.146C>T (p.Pro49Leu)
4g.6277593C>ACA438210516WFS1n.308C>A
c.138C>A (p.Pro46=)
c.128C>A
c.-18+7579C>A (n.-18+7579C>A)
c.67-55C>A (n.67-55C>A)
c.147C>A (p.Pro49=)
 gnomAD v4
4g.6277593C=CA1435762607WFS1n.308C=
c.138C= (p.Pro46=)
c.128C=
c.-18+7579C= (n.-18+7579C=)
c.67-55C= (n.67-55C=)
c.147C= (p.Pro49=)
4g.6277593C>GCA438210515WFS1n.308C>G
c.138C>G (p.Pro46=)
c.128C>G
c.-18+7579C>G (n.-18+7579C>G)
c.67-55C>G (n.67-55C>G)
c.147C>G (p.Pro49=)
 dbSNP gnomAD v2 gnomAD v4
4g.6277593C>TCA438210514WFS1n.308C>T
c.138C>T (p.Pro46=)
c.128C>T
c.-18+7579C>T (n.-18+7579C>T)
c.67-55C>T (n.67-55C>T)
c.147C>T (p.Pro49=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6277594C>ACA356169710WFS1n.309C>A
c.139C>A (p.Gln47Lys)
c.129C>A
c.-18+7580C>A (n.-18+7580C>A)
c.67-54C>A (n.67-54C>A)
c.148C>A (p.Gln50Lys)
 gnomAD v4
4g.6277594C>GCA356169711WFS1n.309C>G
c.139C>G (p.Gln47Glu)
c.129C>G
c.-18+7580C>G (n.-18+7580C>G)
c.67-54C>G (n.67-54C>G)
c.148C>G (p.Gln50Glu)
4g.6277594C>TCA356169712WFS1n.309C>T
c.139C>T (p.Gln47Ter)
c.129C>T
c.-18+7580C>T (n.-18+7580C>T)
c.67-54C>T (n.67-54C>T)
c.148C>T (p.Gln50Ter)
 gnomAD v4
4g.6277595A=CA1435762611WFS1n.310A=
c.140A= (p.Gln47=)
c.130A=
c.-18+7581A= (n.-18+7581A=)
c.67-53A= (n.67-53A=)
c.149A= (p.Gln50=)
4g.6277595A>CCA356169713WFS1n.310A>C
c.140A>C (p.Gln47Pro)
c.130A>C
c.-18+7581A>C (n.-18+7581A>C)
c.67-53A>C (n.67-53A>C)
c.149A>C (p.Gln50Pro)
4g.6277595A>GCA356169714WFS1n.310A>G
c.140A>G (p.Gln47Arg)
c.130A>G
c.-18+7581A>G (n.-18+7581A>G)
c.67-53A>G (n.67-53A>G)
c.149A>G (p.Gln50Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6277595A>TCA356169715WFS1n.310A>T
c.140A>T (p.Gln47Leu)
c.130A>T
c.-18+7581A>T (n.-18+7581A>T)
c.67-53A>T (n.67-53A>T)
c.149A>T (p.Gln50Leu)
 gnomAD v4
4g.6277596G>ACA438210518WFS1n.311G>A
c.141G>A (p.Gln47=)
c.131G>A
c.-18+7582G>A (n.-18+7582G>A)
c.67-52G>A (n.67-52G>A)
c.150G>A (p.Gln50=)
4g.6277596G>CCA356169716WFS1n.311G>C
c.141G>C (p.Gln47His)
c.131G>C
c.-18+7582G>C (n.-18+7582G>C)
c.67-52G>C (n.67-52G>C)
c.150G>C (p.Gln50His)
 dbSNP gnomAD v2 gnomAD v4
4g.6277596G=CA1435762616WFS1n.311G=
c.141G= (p.Gln47=)
c.131G=
c.-18+7582G= (n.-18+7582G=)
c.67-52G= (n.67-52G=)
c.150G= (p.Gln50=)
4g.6277596G>TCA356169717WFS1n.311G>T
c.141G>T (p.Gln47His)
c.131G>T
c.-18+7582G>T (n.-18+7582G>T)
c.67-52G>T (n.67-52G>T)
c.150G>T (p.Gln50His)
 gnomAD v4
4g.6277597G>ACA356169720WFS1n.312G>A
c.142G>A (p.Ala48Thr)
c.132G>A
c.-18+7583G>A (n.-18+7583G>A)
c.67-51G>A (n.67-51G>A)
c.151G>A (p.Ala51Thr)
 gnomAD v2 gnomAD v4
4g.6277597G>CCA356169719WFS1n.312G>C
c.142G>C (p.Ala48Pro)
c.132G>C
c.-18+7583G>C (n.-18+7583G>C)
c.67-51G>C (n.67-51G>C)
c.151G>C (p.Ala51Pro)
4g.6277597G=CA1435762621WFS1n.312G=
c.142G= (p.Ala48=)
c.132G=
c.-18+7583G= (n.-18+7583G=)
c.67-51G= (n.67-51G=)
c.151G= (p.Ala51=)
4g.6277597G>TCA356169718WFS1n.312G>T
c.142G>T (p.Ala48Ser)
c.132G>T
c.-18+7583G>T (n.-18+7583G>T)
c.67-51G>T (n.67-51G>T)
c.151G>T (p.Ala51Ser)
 gnomAD v4
4g.6277598C>ACA356169722WFS1n.313C>A
c.143C>A (p.Ala48Asp)
c.133C>A
c.-18+7584C>A (n.-18+7584C>A)
c.67-50C>A (n.67-50C>A)
c.152C>A (p.Ala51Asp)
 gnomAD v4
4g.6277598C=CA1435762627WFS1n.313C=
c.143C= (p.Ala48=)
c.133C=
c.-18+7584C= (n.-18+7584C=)
c.67-50C= (n.67-50C=)
c.152C= (p.Ala51=)
4g.6277598C>GCA356169721WFS1n.313C>G
c.143C>G (p.Ala48Gly)
c.133C>G
c.-18+7584C>G (n.-18+7584C>G)
c.67-50C>G (n.67-50C>G)
c.152C>G (p.Ala51Gly)
4g.6277598C>TCA136334WFS1n.313C>T
c.143C>T (p.Ala48Val)
c.133C>T
c.-18+7584C>T (n.-18+7584C>T)
c.67-50C>T (n.67-50C>T)
c.152C>T (p.Ala51Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6277608_6277613dupCA549707948WFS1n.323_328dup
c.153_158dup (p.Gly53_Val54insProGly)
c.143_148dup
c.-18+7594_-18+7599dup (n.-18+7594_-18+7599dup)
c.67-40_67-35dup (n.67-40_67-35dup)
c.162_167dup (p.Gly56_Val57insProGly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6277599T>ACA438210522WFS1n.314T>A
c.144T>A (p.Ala48=)
c.134T>A
c.-18+7585T>A (n.-18+7585T>A)
c.67-49T>A (n.67-49T>A)
c.153T>A (p.Ala51=)
4g.6277599T>CCA438210523WFS1n.314T>C
c.144T>C (p.Ala48=)
c.134T>C
c.-18+7585T>C (n.-18+7585T>C)
c.67-49T>C (n.67-49T>C)
c.153T>C (p.Ala51=)
 gnomAD v4
4g.6277599T>GCA438210524WFS1n.314T>G
c.144T>G (p.Ala48=)
c.134T>G
c.-18+7585T>G (n.-18+7585T>G)
c.67-49T>G (n.67-49T>G)
c.153T>G (p.Ala51=)
4g.6277600G>ACA356169723WFS1n.315G>A
c.145G>A (p.Gly49Ser)
c.135G>A
c.-18+7586G>A (n.-18+7586G>A)
c.67-48G>A (n.67-48G>A)
c.154G>A (p.Gly52Ser)
4g.6277600G>CCA356169724WFS1n.315G>C
c.145G>C (p.Gly49Arg)
c.135G>C
c.-18+7586G>C (n.-18+7586G>C)
c.67-48G>C (n.67-48G>C)
c.154G>C (p.Gly52Arg)
4g.6277600G>TCA356169725WFS1n.315G>T
c.145G>T (p.Gly49Cys)
c.135G>T
c.-18+7586G>T (n.-18+7586G>T)
c.67-48G>T (n.67-48G>T)
c.154G>T (p.Gly52Cys)
 gnomAD v4
4g.6277601G>ACA356169728WFS1n.316G>A
c.146G>A (p.Gly49Asp)
c.136G>A
c.-18+7587G>A (n.-18+7587G>A)
c.67-47G>A (n.67-47G>A)
c.155G>A (p.Gly52Asp)
 gnomAD v4
4g.6277601G>CCA356169727WFS1n.316G>C
c.146G>C (p.Gly49Ala)
c.136G>C
c.-18+7587G>C (n.-18+7587G>C)
c.67-47G>C (n.67-47G>C)
c.155G>C (p.Gly52Ala)
4g.6277601G>TCA356169726WFS1n.316G>T
c.146G>T (p.Gly49Val)
c.136G>T
c.-18+7587G>T (n.-18+7587G>T)
c.67-47G>T (n.67-47G>T)
c.155G>T (p.Gly52Val)
 gnomAD v4
4g.6277602C>ACA438210528WFS1n.317C>A
c.147C>A (p.Gly49=)
c.137C>A
c.-18+7588C>A (n.-18+7588C>A)
c.67-46C>A (n.67-46C>A)
c.156C>A (p.Gly52=)
 gnomAD v4
4g.6277602C=CA1435762629WFS1n.317C=
c.147C= (p.Gly49=)
c.137C=
c.-18+7588C= (n.-18+7588C=)
c.67-46C= (n.67-46C=)
c.156C= (p.Gly52=)
4g.6277602C>GCA438210529WFS1n.317C>G
c.147C>G (p.Gly49=)
c.137C>G
c.-18+7588C>G (n.-18+7588C>G)
c.67-46C>G (n.67-46C>G)
c.156C>G (p.Gly52=)
4g.6277602C>TCA438210530WFS1n.317C>T
c.147C>T (p.Gly49=)
c.137C>T
c.-18+7588C>T (n.-18+7588C>T)
c.67-46C>T (n.67-46C>T)
c.156C>T (p.Gly52=)
 dbSNP gnomAD v4
4g.6277604delCA2669824694WFS1n.319del
c.149del (p.Pro50LeufsTer?)
c.139del
c.-18+7590del (n.-18+7590del)
c.67-44del (n.67-44del)
c.158del (p.Pro53LeufsTer?)
 gnomAD v4
4g.6277603C>ACA356169729WFS1n.318C>A
c.148C>A (p.Pro50Thr)
c.138C>A
c.-18+7589C>A (n.-18+7589C>A)
c.67-45C>A (n.67-45C>A)
c.157C>A (p.Pro53Thr)
 gnomAD v4
4g.6277603C>GCA356169730WFS1n.318C>G
c.148C>G (p.Pro50Ala)
c.138C>G
c.-18+7589C>G (n.-18+7589C>G)
c.67-45C>G (n.67-45C>G)
c.157C>G (p.Pro53Ala)
4g.6277603C>TCA356169731WFS1n.318C>T
c.148C>T (p.Pro50Ser)
c.138C>T
c.-18+7589C>T (n.-18+7589C>T)
c.67-45C>T (n.67-45C>T)
c.157C>T (p.Pro53Ser)
4g.6277604C>ACA356169732WFS1n.319C>A
c.149C>A (p.Pro50His)
c.139C>A
c.-18+7590C>A (n.-18+7590C>A)
c.67-44C>A (n.67-44C>A)
c.158C>A (p.Pro53His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6277604C=CA1435762631WFS1n.319C=
c.149C= (p.Pro50=)
c.139C=
c.-18+7590C= (n.-18+7590C=)
c.67-44C= (n.67-44C=)
c.158C= (p.Pro53=)
4g.6277604C>GCA356169733WFS1n.319C>G
c.149C>G (p.Pro50Arg)
c.139C>G
c.-18+7590C>G (n.-18+7590C>G)
c.67-44C>G (n.67-44C>G)
c.158C>G (p.Pro53Arg)
 gnomAD v4
4g.6277604C>TCA356169734WFS1n.319C>T
c.149C>T (p.Pro50Leu)
c.139C>T
c.-18+7590C>T (n.-18+7590C>T)
c.67-44C>T (n.67-44C>T)
c.158C>T (p.Pro53Leu)
 gnomAD v4
4g.6277605T>ACA438210534WFS1n.320T>A
c.150T>A (p.Pro50=)
c.140T>A
c.-18+7591T>A (n.-18+7591T>A)
c.67-43T>A (n.67-43T>A)
c.159T>A (p.Pro53=)
4g.6277605T>CCA438210535WFS1n.320T>C
c.150T>C (p.Pro50=)
c.140T>C
c.-18+7591T>C (n.-18+7591T>C)
c.67-43T>C (n.67-43T>C)
c.159T>C (p.Pro53=)
 gnomAD v4
4g.6277605T>GCA438210537WFS1n.320T>G
c.150T>G (p.Pro50=)
c.140T>G
c.-18+7591T>G (n.-18+7591T>G)
c.67-43T>G (n.67-43T>G)
c.159T>G (p.Pro53=)
 gnomAD v4
4g.6277606G>ACA356169735WFS1n.321G>A
c.151G>A (p.Gly51Ser)
c.141G>A
c.-18+7592G>A (n.-18+7592G>A)
c.67-42G>A (n.67-42G>A)
c.160G>A (p.Gly54Ser)
4g.6277606G>CCA356169737WFS1n.321G>C
c.151G>C (p.Gly51Arg)
c.141G>C
c.-18+7592G>C (n.-18+7592G>C)
c.67-42G>C (n.67-42G>C)
c.160G>C (p.Gly54Arg)
4g.6277606G>TCA356169736WFS1n.321G>T
c.151G>T (p.Gly51Cys)
c.141G>T
c.-18+7592G>T (n.-18+7592G>T)
c.67-42G>T (n.67-42G>T)
c.160G>T (p.Gly54Cys)
 gnomAD v4
4g.6277607G>ACA356169738WFS1n.322G>A
c.152G>A (p.Gly51Asp)
c.142G>A
c.-18+7593G>A (n.-18+7593G>A)
c.67-41G>A (n.67-41G>A)
c.161G>A (p.Gly54Asp)
 gnomAD v4
4g.6277607G>CCA356169739WFS1n.322G>C
c.152G>C (p.Gly51Ala)
c.142G>C
c.-18+7593G>C (n.-18+7593G>C)
c.67-41G>C (n.67-41G>C)
c.161G>C (p.Gly54Ala)
4g.6277607G>TCA356169740WFS1n.322G>T
c.152G>T (p.Gly51Val)
c.142G>T
c.-18+7593G>T (n.-18+7593G>T)
c.67-41G>T (n.67-41G>T)
c.161G>T (p.Gly54Val)
 gnomAD v4
4g.6277608C>ACA438210538WFS1n.323C>A
c.153C>A (p.Gly51=)
c.143C>A
c.-18+7594C>A (n.-18+7594C>A)
c.67-40C>A (n.67-40C>A)
c.162C>A (p.Gly54=)
4g.6277608C=CA1435762633WFS1n.323C=
c.153C= (p.Gly51=)
c.143C=
c.-18+7594C= (n.-18+7594C=)
c.67-40C= (n.67-40C=)
c.162C= (p.Gly54=)
4g.6277608C>GCA438210540WFS1n.323C>G
c.153C>G (p.Gly51=)
c.143C>G
c.-18+7594C>G (n.-18+7594C>G)
c.67-40C>G (n.67-40C>G)
c.162C>G (p.Gly54=)
4g.6277608C>TCA438210541WFS1n.323C>T
c.153C>T (p.Gly51=)
c.143C>T
c.-18+7594C>T (n.-18+7594C>T)
c.67-40C>T (n.67-40C>T)
c.162C>T (p.Gly54=)
 dbSNP gnomAD v4
4g.6277609C>ACA2838807WFS1n.324C>A
c.154C>A (p.Pro52Thr)
c.144C>A
c.-18+7595C>A (n.-18+7595C>A)
c.67-39C>A (n.67-39C>A)
c.163C>A (p.Pro55Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6277609C=CA1435762640WFS1n.324C=
c.154C= (p.Pro52=)
c.144C=
c.-18+7595C= (n.-18+7595C=)
c.67-39C= (n.67-39C=)
c.163C= (p.Pro55=)
4g.6277609C>GCA91787485WFS1n.324C>G
c.154C>G (p.Pro52Ala)
c.144C>G
c.-18+7595C>G (n.-18+7595C>G)
c.67-39C>G (n.67-39C>G)
c.163C>G (p.Pro55Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6277609C>TCA2838808WFS1n.324C>T
c.154C>T (p.Pro52Ser)
c.144C>T
c.-18+7595C>T (n.-18+7595C>T)
c.67-39C>T (n.67-39C>T)
c.163C>T (p.Pro55Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6277610C>ACA356169741WFS1n.325C>A
c.155C>A (p.Pro52His)
c.145C>A
c.-18+7596C>A (n.-18+7596C>A)
c.67-38C>A (n.67-38C>A)
c.164C>A (p.Pro55His)
 dbSNP
4g.6277610C>GCA356169742WFS1n.325C>G
c.155C>G (p.Pro52Arg)
c.145C>G
c.-18+7596C>G (n.-18+7596C>G)
c.67-38C>G (n.67-38C>G)
c.164C>G (p.Pro55Arg)
4g.6277610C>TCA356169743WFS1n.325C>T
c.155C>T (p.Pro52Leu)
c.145C>T
c.-18+7596C>T (n.-18+7596C>T)
c.67-38C>T (n.67-38C>T)
c.164C>T (p.Pro55Leu)
 gnomAD v4
4g.6277611T>ACA438210546WFS1n.326T>A
c.156T>A (p.Pro52=)
c.146T>A
c.-18+7597T>A (n.-18+7597T>A)
c.67-37T>A (n.67-37T>A)
c.165T>A (p.Pro55=)
4g.6277611T>CCA438210542WFS1n.326T>C
c.156T>C (p.Pro52=)
c.146T>C
c.-18+7597T>C (n.-18+7597T>C)
c.67-37T>C (n.67-37T>C)
c.165T>C (p.Pro55=)
4g.6277611T>GCA438210544WFS1n.326T>G
c.156T>G (p.Pro52=)
c.146T>G
c.-18+7597T>G (n.-18+7597T>G)
c.67-37T>G (n.67-37T>G)
c.165T>G (p.Pro55=)
4g.6277612G>ACA356169744WFS1n.327G>A
c.157G>A (p.Gly53Ser)
c.147G>A
c.-18+7598G>A (n.-18+7598G>A)
c.67-36G>A (n.67-36G>A)
c.166G>A (p.Gly56Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.6277612G>CCA356169745WFS1n.327G>C
c.157G>C (p.Gly53Arg)
c.147G>C
c.-18+7598G>C (n.-18+7598G>C)
c.67-36G>C (n.67-36G>C)
c.166G>C (p.Gly56Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6277612G=CA1435762642WFS1n.327G=
c.157G= (p.Gly53=)
c.147G=
c.-18+7598G= (n.-18+7598G=)
c.67-36G= (n.67-36G=)
c.166G= (p.Gly56=)
4g.6277612G>TCA356169746WFS1n.327G>T
c.157G>T (p.Gly53Cys)
c.147G>T
c.-18+7598G>T (n.-18+7598G>T)
c.67-36G>T (n.67-36G>T)
c.166G>T (p.Gly56Cys)
 gnomAD v4
4g.6277613G>ACA356169749WFS1n.328G>A
c.158G>A (p.Gly53Asp)
c.148G>A
c.-18+7599G>A (n.-18+7599G>A)
c.67-35G>A (n.67-35G>A)
c.167G>A (p.Gly56Asp)
 gnomAD v4
4g.6277613G>CCA356169748WFS1n.328G>C
c.158G>C (p.Gly53Ala)
c.148G>C
c.-18+7599G>C (n.-18+7599G>C)
c.67-35G>C (n.67-35G>C)
c.167G>C (p.Gly56Ala)
 ClinVar gnomAD v4
4g.6277613G>TCA356169747WFS1n.328G>T
c.158G>T (p.Gly53Val)
c.148G>T
c.-18+7599G>T (n.-18+7599G>T)
c.67-35G>T (n.67-35G>T)
c.167G>T (p.Gly56Val)
 ClinVar dbSNP gnomAD v4
4g.6277614T>ACA438210550WFS1n.329T>A
c.159T>A (p.Gly53=)
c.149T>A
c.-18+7600T>A (n.-18+7600T>A)
c.67-34T>A (n.67-34T>A)
c.168T>A (p.Gly56=)
4g.6277614T>CCA438210552WFS1n.329T>C
c.159T>C (p.Gly53=)
c.149T>C
c.-18+7600T>C (n.-18+7600T>C)
c.67-34T>C (n.67-34T>C)
c.168T>C (p.Gly56=)
4g.6277614T>GCA438210553WFS1n.329T>G
c.159T>G (p.Gly53=)
c.149T>G
c.-18+7600T>G (n.-18+7600T>G)
c.67-34T>G (n.67-34T>G)
c.168T>G (p.Gly56=)
4g.6277615G>ACA356169750WFS1n.330G>A
c.160G>A (p.Val54Ile)
c.150G>A
c.-18+7601G>A (n.-18+7601G>A)
c.67-33G>A (n.67-33G>A)
c.169G>A (p.Val57Ile)
 dbSNP gnomAD v2 gnomAD v4
4g.6277615G>CCA356169752WFS1n.330G>C
c.160G>C (p.Val54Leu)
c.150G>C
c.-18+7601G>C (n.-18+7601G>C)
c.67-33G>C (n.67-33G>C)
c.169G>C (p.Val57Leu)
4g.6277615G=CA1435762644WFS1n.330G=
c.160G= (p.Val54=)
c.150G=
c.-18+7601G= (n.-18+7601G=)
c.67-33G= (n.67-33G=)
c.169G= (p.Val57=)
4g.6277615G>TCA356169751WFS1n.330G>T
c.160G>T (p.Val54Phe)
c.150G>T
c.-18+7601G>T (n.-18+7601G>T)
c.67-33G>T (n.67-33G>T)
c.169G>T (p.Val57Phe)
 gnomAD v4 COSMIC
4g.6277616T>ACA356169753WFS1n.331T>A
c.161T>A (p.Val54Asp)
c.151T>A
c.-18+7602T>A (n.-18+7602T>A)
c.67-32T>A (n.67-32T>A)
c.170T>A (p.Val57Asp)
4g.6277616T>CCA356169754WFS1n.331T>C
c.161T>C (p.Val54Ala)
c.151T>C
c.-18+7602T>C (n.-18+7602T>C)
c.67-32T>C (n.67-32T>C)
c.170T>C (p.Val57Ala)
 gnomAD v4
4g.6277616T>GCA356169755WFS1n.331T>G
c.161T>G (p.Val54Gly)
c.151T>G
c.-18+7602T>G (n.-18+7602T>G)
c.67-32T>G (n.67-32T>G)
c.170T>G (p.Val57Gly)
4g.6277617T>ACA438210556WFS1n.332T>A
c.162T>A (p.Val54=)
c.152T>A
c.-18+7603T>A (n.-18+7603T>A)
c.67-31T>A (n.67-31T>A)
c.171T>A (p.Val57=)
4g.6277617T>CCA438210557WFS1n.332T>C
c.162T>C (p.Val54=)
c.152T>C
c.-18+7603T>C (n.-18+7603T>C)
c.67-31T>C (n.67-31T>C)
c.171T>C (p.Val57=)
 dbSNP gnomAD v2 gnomAD v4
4g.6277617T>GCA438210558WFS1n.332T>G
c.162T>G (p.Val54=)
c.152T>G
c.-18+7603T>G (n.-18+7603T>G)
c.67-31T>G (n.67-31T>G)
c.171T>G (p.Val57=)
4g.6277617T=CA1435762646WFS1n.332T=
c.162T= (p.Val54=)
c.152T=
c.-18+7603T= (n.-18+7603T=)
c.67-31T= (n.67-31T=)
c.171T= (p.Val57=)
4g.6277618A>CCA438210559WFS1n.333A>C
c.163A>C (p.Arg55=)
c.153A>C
c.-18+7604A>C (n.-18+7604A>C)
c.67-30A>C (n.67-30A>C)
c.172A>C (p.Arg58=)
4g.6277618A>GCA356169756WFS1n.333A>G
c.163A>G (p.Arg55Gly)
c.153A>G
c.-18+7604A>G (n.-18+7604A>G)
c.67-30A>G (n.67-30A>G)
c.172A>G (p.Arg58Gly)
4g.6277618A>TCA356169757WFS1n.333A>T
c.163A>T (p.Arg55Ter)
c.153A>T
c.-18+7604A>T (n.-18+7604A>T)
c.67-30A>T (n.67-30A>T)
c.172A>T (p.Arg58Ter)
4g.6277621_6277622delCA2669824748WFS1n.336_337del
c.166_167del (p.Asp56ArgfsTer6)
c.156_157del
c.-18+7607_-18+7608del (n.-18+7607_-18+7608del)
c.67-27_67-26del (n.67-27_67-26del)
c.175_176del (p.Asp59ArgfsTer6)
 gnomAD v4
4g.6277619G>ACA356169758WFS1n.334G>A
c.164G>A (p.Arg55Lys)
c.154G>A
c.-18+7605G>A (n.-18+7605G>A)
c.67-29G>A (n.67-29G>A)
c.173G>A (p.Arg58Lys)
 ClinVar dbSNP COSMIC
4g.6277619G>CCA356169759WFS1n.334G>C
c.164G>C (p.Arg55Thr)
c.154G>C
c.-18+7605G>C (n.-18+7605G>C)
c.67-29G>C (n.67-29G>C)
c.173G>C (p.Arg58Thr)
 gnomAD v4
4g.6277619G>TCA356169760WFS1n.334G>T
c.164G>T (p.Arg55Ile)
c.154G>T
c.-18+7605G>T (n.-18+7605G>T)
c.67-29G>T (n.67-29G>T)
c.173G>T (p.Arg58Ile)
 gnomAD v4
4g.6277620A>CCA356169761WFS1n.335A>C
c.165A>C (p.Arg55Ser)
c.155A>C
c.-18+7606A>C (n.-18+7606A>C)
c.67-28A>C (n.67-28A>C)
c.174A>C (p.Arg58Ser)
4g.6277620A>GCA438210560WFS1n.335A>G
c.165A>G (p.Arg55=)
c.155A>G
c.-18+7606A>G (n.-18+7606A>G)
c.67-28A>G (n.67-28A>G)
c.174A>G (p.Arg58=)
4g.6277620A>TCA356169762WFS1n.335A>T
c.165A>T (p.Arg55Ser)
c.155A>T
c.-18+7606A>T (n.-18+7606A>T)
c.67-28A>T (n.67-28A>T)
c.174A>T (p.Arg58Ser)
4g.6277621G>ACA356169765WFS1n.336G>A
c.166G>A (p.Asp56Asn)
c.156G>A
c.-18+7607G>A (n.-18+7607G>A)
c.67-27G>A (n.67-27G>A)
c.175G>A (p.Asp59Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6277621G>CCA356169764WFS1n.336G>C
c.166G>C (p.Asp56His)
c.156G>C
c.-18+7607G>C (n.-18+7607G>C)
c.67-27G>C (n.67-27G>C)
c.175G>C (p.Asp59His)
4g.6277621G=CA1435762648WFS1n.336G=
c.166G= (p.Asp56=)
c.156G=
c.-18+7607G= (n.-18+7607G=)
c.67-27G= (n.67-27G=)
c.175G= (p.Asp59=)
4g.6277621G>TCA356169763WFS1n.336G>T
c.166G>T (p.Asp56Tyr)
c.156G>T
c.-18+7607G>T (n.-18+7607G>T)
c.67-27G>T (n.67-27G>T)
c.175G>T (p.Asp59Tyr)
 gnomAD v4
4g.6277622A>CCA356169766WFS1n.337A>C
c.167A>C (p.Asp56Ala)
c.157A>C
c.-18+7608A>C (n.-18+7608A>C)
c.67-26A>C (n.67-26A>C)
c.176A>C (p.Asp59Ala)
4g.6277622A>GCA356169767WFS1n.337A>G
c.167A>G (p.Asp56Gly)
c.157A>G
c.-18+7608A>G (n.-18+7608A>G)
c.67-26A>G (n.67-26A>G)
c.176A>G (p.Asp59Gly)
4g.6277622A>TCA356169768WFS1n.337A>T
c.167A>T (p.Asp56Val)
c.157A>T
c.-18+7608A>T (n.-18+7608A>T)
c.67-26A>T (n.67-26A>T)
c.176A>T (p.Asp59Val)
4g.6277623C>ACA356169769WFS1n.338C>A
c.168C>A (p.Asp56Glu)
c.158C>A
c.-18+7609C>A (n.-18+7609C>A)
c.67-25C>A (n.67-25C>A)
c.177C>A (p.Asp59Glu)
 gnomAD v4
4g.6277623C=CA1435762652WFS1n.338C=
c.168C= (p.Asp56=)
c.158C=
c.-18+7609C= (n.-18+7609C=)
c.67-25C= (n.67-25C=)
c.177C= (p.Asp59=)
4g.6277623C>GCA356169770WFS1n.338C>G
c.168C>G (p.Asp56Glu)
c.158C>G
c.-18+7609C>G (n.-18+7609C>G)
c.67-25C>G (n.67-25C>G)
c.177C>G (p.Asp59Glu)
 gnomAD v4
4g.6277623C>TCA2838809WFS1n.338C>T
c.168C>T (p.Asp56=)
c.158C>T
c.-18+7609C>T (n.-18+7609C>T)
c.67-25C>T (n.67-25C>T)
c.177C>T (p.Asp59=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6277624G>ACA2838810WFS1n.339G>A
c.169G>A (p.Ala57Thr)
c.159G>A
c.-18+7610G>A (n.-18+7610G>A)
c.67-24G>A (n.67-24G>A)
c.178G>A (p.Ala60Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6277624G>CCA356169771WFS1n.339G>C
c.169G>C (p.Ala57Pro)
c.159G>C
c.-18+7610G>C (n.-18+7610G>C)
c.67-24G>C (n.67-24G>C)
c.178G>C (p.Ala60Pro)
4g.6277624G=CA1435762659WFS1n.339G=
c.169G= (p.Ala57=)
c.159G=
c.-18+7610G= (n.-18+7610G=)
c.67-24G= (n.67-24G=)
c.178G= (p.Ala60=)
4g.6277624G>TCA320631WFS1n.339G>T
c.169G>T (p.Ala57Ser)
c.159G>T
c.-18+7610G>T (n.-18+7610G>T)
c.67-24G>T (n.67-24G>T)
c.178G>T (p.Ala60Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6277625C>ACA356169772WFS1n.340C>A
c.170C>A (p.Ala57Glu)
c.160C>A
c.-18+7611C>A (n.-18+7611C>A)
c.67-23C>A (n.67-23C>A)
c.179C>A (p.Ala60Glu)
4g.6277625C>GCA356169773WFS1n.340C>G
c.170C>G (p.Ala57Gly)
c.160C>G
c.-18+7611C>G (n.-18+7611C>G)
c.67-23C>G (n.67-23C>G)
c.179C>G (p.Ala60Gly)
4g.6277625C>TCA356169774WFS1n.340C>T
c.170C>T (p.Ala57Val)
c.160C>T
c.-18+7611C>T (n.-18+7611C>T)
c.67-23C>T (n.67-23C>T)
c.179C>T (p.Ala60Val)
 gnomAD v4
4g.6277626A>CCA438210565WFS1n.341A>C
c.171A>C (p.Ala57=)
c.161A>C
c.-18+7612A>C (n.-18+7612A>C)
c.67-22A>C (n.67-22A>C)
c.180A>C (p.Ala60=)
4g.6277626A>GCA438210566WFS1n.341A>G
c.171A>G (p.Ala57=)
c.161A>G
c.-18+7612A>G (n.-18+7612A>G)
c.67-22A>G (n.67-22A>G)
c.180A>G (p.Ala60=)
 gnomAD v4
4g.6277626A>TCA438210567WFS1n.341A>T
c.171A>T (p.Ala57=)
c.161A>T
c.-18+7612A>T (n.-18+7612A>T)
c.67-22A>T (n.67-22A>T)
c.180A>T (p.Ala60=)
4g.6277627G>ACA16609249WFS1n.342G>A
c.172G>A (p.Ala58Thr)
c.162G>A
c.-18+7613G>A (n.-18+7613G>A)
c.67-21G>A (n.67-21G>A)
c.181G>A (p.Ala61Thr)
 ClinVar dbSNP gnomAD v4
4g.6277627G>CCA356169776WFS1n.342G>C
c.172G>C (p.Ala58Pro)
c.162G>C
c.-18+7613G>C (n.-18+7613G>C)
c.67-21G>C (n.67-21G>C)
c.181G>C (p.Ala61Pro)
4g.6277627G=CA1435762664WFS1n.342G=
c.172G= (p.Ala58=)
c.162G=
c.-18+7613G= (n.-18+7613G=)
c.67-21G= (n.67-21G=)
c.181G= (p.Ala61=)
4g.6277627G>TCA356169775WFS1n.342G>T
c.172G>T (p.Ala58Ser)
c.162G>T
c.-18+7613G>T (n.-18+7613G>T)
c.67-21G>T (n.67-21G>T)
c.181G>T (p.Ala61Ser)
 gnomAD v4
4g.6277628C>ACA356169778WFS1n.343C>A
c.173C>A (p.Ala58Glu)
c.163C>A
c.-18+7614C>A (n.-18+7614C>A)
c.67-20C>A (n.67-20C>A)
c.182C>A (p.Ala61Glu)
 dbSNP gnomAD v4
4g.6277628C=CA1435762671WFS1n.343C=
c.173C= (p.Ala58=)
c.163C=
c.-18+7614C= (n.-18+7614C=)
c.67-20C= (n.67-20C=)
c.182C= (p.Ala61=)
4g.6277628C>GCA356169777WFS1n.343C>G
c.173C>G (p.Ala58Gly)
c.163C>G
c.-18+7614C>G (n.-18+7614C>G)
c.67-20C>G (n.67-20C>G)
c.182C>G (p.Ala61Gly)
4g.6277628C>TCA2838811WFS1n.343C>T
c.173C>T (p.Ala58Val)
c.163C>T
c.-18+7614C>T (n.-18+7614C>T)
c.67-20C>T (n.67-20C>T)
c.182C>T (p.Ala61Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6277629G>ACA438210571WFS1n.344G>A
c.174G>A (p.Ala58=)
c.164G>A
c.-18+7615G>A (n.-18+7615G>A)
c.67-19G>A (n.67-19G>A)
c.183G>A (p.Ala61=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6277629G>CCA438210572WFS1n.344G>C
c.174G>C (p.Ala58=)
c.164G>C
c.-18+7615G>C (n.-18+7615G>C)
c.67-19G>C (n.67-19G>C)
c.183G>C (p.Ala61=)
4g.6277629G=CA1435762678WFS1n.344G=
c.174G= (p.Ala58=)
c.164G=
c.-18+7615G= (n.-18+7615G=)
c.67-19G= (n.67-19G=)
c.183G= (p.Ala61=)
4g.6277629G>TCA438210573WFS1n.344G>T
c.174G>T (p.Ala58=)
c.164G>T
c.-18+7615G>T (n.-18+7615G>T)
c.67-19G>T (n.67-19G>T)
c.183G>T (p.Ala61=)
4g.6277630delCA2586973591WFS1n.345del
c.175del (p.Ala59ProfsTer?)
c.165del
c.-18+7616del (n.-18+7616del)
c.67-18del (n.67-18del)
c.184del (p.Ala62ProfsTer?)
4g.6277630G>ACA91787498WFS1n.345G>A
c.175G>A (p.Ala59Thr)
c.165G>A
c.-18+7616G>A (n.-18+7616G>A)
c.67-18G>A (n.67-18G>A)
c.184G>A (p.Ala62Thr)
 dbSNP gnomAD v2 gnomAD v4
4g.6277630G>CCA356169779WFS1n.345G>C
c.175G>C (p.Ala59Pro)
c.165G>C
c.-18+7616G>C (n.-18+7616G>C)
c.67-18G>C (n.67-18G>C)
c.184G>C (p.Ala62Pro)
4g.6277630G=CA1435762680WFS1n.345G=
c.175G= (p.Ala59=)
c.165G=
c.-18+7616G= (n.-18+7616G=)
c.67-18G= (n.67-18G=)
c.184G= (p.Ala62=)
4g.6277630G>TCA356169780WFS1n.345G>T
c.175G>T (p.Ala59Ser)
c.165G>T
c.-18+7616G>T (n.-18+7616G>T)
c.67-18G>T (n.67-18G>T)
c.184G>T (p.Ala62Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6277631C>ACA356169782WFS1n.346C>A
c.176C>A (p.Ala59Asp)
c.166C>A
c.-18+7617C>A (n.-18+7617C>A)
c.67-17C>A (n.67-17C>A)
c.185C>A (p.Ala62Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6277631C=CA1435762687WFS1n.346C=
c.176C= (p.Ala59=)
c.166C=
c.-18+7617C= (n.-18+7617C=)
c.67-17C= (n.67-17C=)
c.185C= (p.Ala62=)
4g.6277631C>GCA356169781WFS1n.346C>G
c.176C>G (p.Ala59Gly)
c.166C>G
c.-18+7617C>G (n.-18+7617C>G)
c.67-17C>G (n.67-17C>G)
c.185C>G (p.Ala62Gly)
4g.6277631C>TCA2838812WFS1n.346C>T
c.176C>T (p.Ala59Val)
c.166C>T
c.-18+7617C>T (n.-18+7617C>T)
c.67-17C>T (n.67-17C>T)
c.185C>T (p.Ala62Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6277635delCA2669824813WFS1n.350del
c.180del (p.Ala61LeufsTer?)
c.170del
c.-18+7621del (n.-18+7621del)
c.67-13del (n.67-13del)
c.189del (p.Ala64LeufsTer?)
 gnomAD v4
4g.6277632C>ACA438210576WFS1n.347C>A
c.177C>A (p.Ala59=)
c.167C>A
c.-18+7618C>A (n.-18+7618C>A)
c.67-16C>A (n.67-16C>A)
c.186C>A (p.Ala62=)
4g.6277632C=CA1435762693WFS1n.347C=
c.177C= (p.Ala59=)
c.167C=
c.-18+7618C= (n.-18+7618C=)
c.67-16C= (n.67-16C=)
c.186C= (p.Ala62=)
4g.6277632C>GCA438210575WFS1n.347C>G
c.177C>G (p.Ala59=)
c.167C>G
c.-18+7618C>G (n.-18+7618C>G)
c.67-16C>G (n.67-16C>G)
c.186C>G (p.Ala62=)
 gnomAD v4
4g.6277632C>TCA438210574WFS1n.347C>T
c.177C>T (p.Ala59=)
c.167C>T
c.-18+7618C>T (n.-18+7618C>T)
c.67-16C>T (n.67-16C>T)
c.186C>T (p.Ala62=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6277633C>ACA356169783WFS1n.348C>A
c.178C>A (p.Pro60Thr)
c.168C>A
c.-18+7619C>A (n.-18+7619C>A)
c.67-15C>A (n.67-15C>A)
c.187C>A (p.Pro63Thr)
 gnomAD v4
4g.6277633C>GCA356169784WFS1n.348C>G
c.178C>G (p.Pro60Ala)
c.168C>G
c.-18+7619C>G (n.-18+7619C>G)
c.67-15C>G (n.67-15C>G)
c.187C>G (p.Pro63Ala)
 gnomAD v4
4g.6277633C>TCA356169785WFS1n.348C>T
c.178C>T (p.Pro60Ser)
c.168C>T
c.-18+7619C>T (n.-18+7619C>T)
c.67-15C>T (n.67-15C>T)
c.187C>T (p.Pro63Ser)
 gnomAD v4
4g.6277634C>ACA356169786WFS1n.349C>A
c.179C>A (p.Pro60His)
c.169C>A
c.-18+7620C>A (n.-18+7620C>A)
c.67-14C>A (n.67-14C>A)
c.188C>A (p.Pro63His)
 gnomAD v4
4g.6277634C>GCA356169787WFS1n.349C>G
c.179C>G (p.Pro60Arg)
c.169C>G
c.-18+7620C>G (n.-18+7620C>G)
c.67-14C>G (n.67-14C>G)
c.188C>G (p.Pro63Arg)
4g.6277634C>TCA356169788WFS1n.349C>T
c.179C>T (p.Pro60Leu)
c.169C>T
c.-18+7620C>T (n.-18+7620C>T)
c.67-14C>T (n.67-14C>T)
c.188C>T (p.Pro63Leu)
 gnomAD v4
4g.6277635C>ACA438210578WFS1n.350C>A
c.180C>A (p.Pro60=)
c.170C>A
c.-18+7621C>A (n.-18+7621C>A)
c.67-13C>A (n.67-13C>A)
c.189C>A (p.Pro63=)
 gnomAD v4
4g.6277635C=CA1435762694WFS1n.350C=
c.180C= (p.Pro60=)
c.170C=
c.-18+7621C= (n.-18+7621C=)
c.67-13C= (n.67-13C=)
c.189C= (p.Pro63=)
4g.6277635C>GCA438210579WFS1n.350C>G
c.180C>G (p.Pro60=)
c.170C>G
c.-18+7621C>G (n.-18+7621C>G)
c.67-13C>G (n.67-13C>G)
c.189C>G (p.Pro63=)
4g.6277635C>TCA438210580WFS1n.350C>T
c.180C>T (p.Pro60=)
c.170C>T
c.-18+7621C>T (n.-18+7621C>T)
c.67-13C>T (n.67-13C>T)
c.189C>T (p.Pro63=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6277636_6277637delCA2760283575WFS1n.351_352del
c.181_182del (p.Ala61Ter)
c.171_172del
c.-18+7622_-18+7623del (n.-18+7622_-18+7623del)
c.67-12_67-11del (n.67-12_67-11del)
c.190_191del (p.Ala64Ter)
4g.6277636G>ACA2838814WFS1n.351G>A
c.181G>A (p.Ala61Thr)
c.171G>A
c.-18+7622G>A (n.-18+7622G>A)
c.67-12G>A (n.67-12G>A)
c.190G>A (p.Ala64Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.6277636G>CCA356169789WFS1n.351G>C
c.181G>C (p.Ala61Pro)
c.171G>C
c.-18+7622G>C (n.-18+7622G>C)
c.67-12G>C (n.67-12G>C)
c.190G>C (p.Ala64Pro)
4g.6277636G=CA1435762699WFS1n.351G=
c.181G= (p.Ala61=)
c.171G=
c.-18+7622G= (n.-18+7622G=)
c.67-12G= (n.67-12G=)
c.190G= (p.Ala64=)
4g.6277636G>TCA2838813WFS1n.351G>T
c.181G>T (p.Ala61Ser)
c.171G>T
c.-18+7622G>T (n.-18+7622G>T)
c.67-12G>T (n.67-12G>T)
c.190G>T (p.Ala64Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.6277637C>ACA356169790WFS1n.352C>A
c.182C>A (p.Ala61Asp)
c.172C>A
c.-18+7623C>A (n.-18+7623C>A)
c.67-11C>A (n.67-11C>A)
c.191C>A (p.Ala64Asp)
 gnomAD v4
4g.6277637C>GCA356169791WFS1n.352C>G
c.182C>G (p.Ala61Gly)
c.172C>G
c.-18+7623C>G (n.-18+7623C>G)
c.67-11C>G (n.67-11C>G)
c.191C>G (p.Ala64Gly)
4g.6277637C>TCA356169792WFS1n.352C>T
c.182C>T (p.Ala61Val)
c.172C>T
c.-18+7623C>T (n.-18+7623C>T)
c.67-11C>T (n.67-11C>T)
c.191C>T (p.Ala64Val)
 gnomAD v4
4g.6277638T>ACA438210584WFS1n.353T>A
c.183T>A (p.Ala61=)
c.173T>A
c.-18+7624T>A (n.-18+7624T>A)
c.67-10T>A (n.67-10T>A)
c.192T>A (p.Ala64=)
4g.6277638T>CCA438210583WFS1n.353T>C
c.183T>C (p.Ala61=)
c.173T>C
c.-18+7624T>C (n.-18+7624T>C)
c.67-10T>C (n.67-10T>C)
c.192T>C (p.Ala64=)
 dbSNP gnomAD v3 gnomAD v4
4g.6277638T>GCA438210582WFS1n.353T>G
c.183T>G (p.Ala61=)
c.173T>G
c.-18+7624T>G (n.-18+7624T>G)
c.67-10T>G (n.67-10T>G)
c.192T>G (p.Ala64=)
 dbSNP gnomAD v2 gnomAD v4
4g.6277638T=CA1435762705WFS1n.353T=
c.183T= (p.Ala61=)
c.173T=
c.-18+7624T= (n.-18+7624T=)
c.67-10T= (n.67-10T=)
c.192T= (p.Ala64=)
4g.6277639G>ACA356169793WFS1n.354G>A
c.184G>A (p.Glu62Lys)
c.174G>A
c.-18+7625G>A (n.-18+7625G>A)
c.67-9G>A (n.67-9G>A)
c.193G>A (p.Glu65Lys)
 gnomAD v4 COSMIC
4g.6277639G>CCA356169794WFS1n.354G>C
c.184G>C (p.Glu62Gln)
c.174G>C
c.-18+7625G>C (n.-18+7625G>C)
c.67-9G>C (n.67-9G>C)
c.193G>C (p.Glu65Gln)
4g.6277639G>TCA356169795WFS1n.354G>T
c.184G>T (p.Glu62Ter)
c.174G>T
c.-18+7625G>T (n.-18+7625G>T)
c.67-9G>T (n.67-9G>T)
c.193G>T (p.Glu65Ter)
 gnomAD v4
4g.6277640A>CCA356169796WFS1n.355A>C
c.185A>C (p.Glu62Ala)
c.175A>C
c.-18+7626A>C (n.-18+7626A>C)
c.67-8A>C (n.67-8A>C)
c.194A>C (p.Glu65Ala)
4g.6277640A>GCA356169797WFS1n.355A>G
c.185A>G (p.Glu62Gly)
c.175A>G
c.-18+7626A>G (n.-18+7626A>G)
c.67-8A>G (n.67-8A>G)
c.194A>G (p.Glu65Gly)
4g.6277640A>TCA356169798WFS1n.355A>T
c.185A>T (p.Glu62Val)
c.175A>T
c.-18+7626A>T (n.-18+7626A>T)
c.67-8A>T (n.67-8A>T)
c.194A>T (p.Glu65Val)
4g.6277641A>CCA356169799WFS1n.356A>C
c.186A>C (p.Glu62Asp)
c.176A>C
c.-18+7627A>C (n.-18+7627A>C)
c.67-7A>C (n.67-7A>C)
c.195A>C (p.Glu65Asp)
4g.6277641A>GCA438210585WFS1n.356A>G
c.186A>G (p.Glu62=)
c.176A>G
c.-18+7627A>G (n.-18+7627A>G)
c.67-7A>G (n.67-7A>G)
c.195A>G (p.Glu65=)
4g.6277641A>TCA356169800WFS1n.356A>T
c.186A>T (p.Glu62Asp)
c.176A>T
c.-18+7627A>T (n.-18+7627A>T)
c.67-7A>T (n.67-7A>T)
c.195A>T (p.Glu65Asp)
4g.6277642C>ACA356169802WFS1n.357C>A
c.187C>A (p.Pro63Thr)
c.177C>A
c.-18+7628C>A (n.-18+7628C>A)
c.67-6C>A (n.67-6C>A)
c.196C>A (p.Pro66Thr)
4g.6277642C>GCA356169803WFS1n.357C>G
c.187C>G (p.Pro63Ala)
c.177C>G
c.-18+7628C>G (n.-18+7628C>G)
c.67-6C>G (n.67-6C>G)
c.196C>G (p.Pro66Ala)
4g.6277642C>TCA356169801WFS1n.357C>T
c.187C>T (p.Pro63Ser)
c.177C>T
c.-18+7628C>T (n.-18+7628C>T)
c.67-6C>T (n.67-6C>T)
c.196C>T (p.Pro66Ser)
 gnomAD v4
4g.6277643C>ACA356169804WFS1n.358C>A
c.188C>A (p.Pro63His)
c.178C>A
c.-18+7629C>A (n.-18+7629C>A)
c.67-5C>A (n.67-5C>A)
c.197C>A (p.Pro66His)
 gnomAD v4
4g.6277643C>GCA356169806WFS1n.358C>G
c.188C>G (p.Pro63Arg)
c.178C>G
c.-18+7629C>G (n.-18+7629C>G)
c.67-5C>G (n.67-5C>G)
c.197C>G (p.Pro66Arg)
4g.6277643C>TCA356169805WFS1n.358C>T
c.188C>T (p.Pro63Leu)
c.178C>T
c.-18+7629C>T (n.-18+7629C>T)
c.67-5C>T (n.67-5C>T)
c.197C>T (p.Pro66Leu)
 gnomAD v4
4g.6277644C>ACA438210586WFS1n.359C>A
c.189C>A (p.Pro63=)
c.179C>A
c.-18+7630C>A (n.-18+7630C>A)
c.67-4C>A (n.67-4C>A)
c.198C>A (p.Pro66=)
 gnomAD v4
4g.6277644C>GCA438210588WFS1n.359C>G
c.189C>G (p.Pro63=)
c.179C>G
c.-18+7630C>G (n.-18+7630C>G)
c.67-4C>G (n.67-4C>G)
c.198C>G (p.Pro66=)
4g.6277644C>TCA438210589WFS1n.359C>T
c.189C>T (p.Pro63=)
c.179C>T
c.-18+7630C>T (n.-18+7630C>T)
c.67-4C>T (n.67-4C>T)
c.198C>T (p.Pro66=)
 gnomAD v4
4g.6277645C>ACA356169807WFS1n.360C>A
c.190C>A (p.Gln64Lys)
c.180C>A
c.-18+7631C>A (n.-18+7631C>A)
c.67-3C>A (n.67-3C>A)
c.199C>A (p.Gln67Lys)
 gnomAD v4
4g.6277645C>GCA356169808WFS1n.360C>G
c.190C>G (p.Gln64Glu)
c.180C>G
c.-18+7631C>G (n.-18+7631C>G)
c.67-3C>G (n.67-3C>G)
c.199C>G (p.Gln67Glu)
4g.6277645C>TCA356169809WFS1n.360C>T
c.190C>T (p.Gln64Ter)
c.180C>T
c.-18+7631C>T (n.-18+7631C>T)
c.67-3C>T (n.67-3C>T)
c.199C>T (p.Gln67Ter)
4g.6277646A>CCA356169810WFS1n.361A>C
c.191A>C (p.Gln64Pro)
c.181A>C
c.-18+7632A>C (n.-18+7632A>C)
c.67-2A>C (n.67-2A>C)
c.200A>C (p.Gln67Pro)
4g.6277646A>GCA356169811WFS1n.361A>G
c.191A>G (p.Gln64Arg)
c.181A>G
c.-18+7632A>G (n.-18+7632A>G)
c.67-2A>G (n.67-2A>G)
c.200A>G (p.Gln67Arg)
 gnomAD v4
4g.6277646A>TCA356169812WFS1n.361A>T
c.191A>T (p.Gln64Leu)
c.181A>T
c.-18+7632A>T (n.-18+7632A>T)
c.67-2A>T (n.67-2A>T)
c.200A>T (p.Gln67Leu)
 gnomAD v4
4g.6277647G>ACA2838815WFS1n.362G>A
c.192G>A (p.Gln64=)
c.182G>A
c.-18+7633G>A (n.-18+7633G>A)
c.67-1G>A (n.67-1G>A)
c.201G>A (p.Gln67=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6277647G>CCA356169813WFS1n.362G>C
c.192G>C (p.Gln64His)
c.182G>C
c.-18+7633G>C (n.-18+7633G>C)
c.67-1G>C (n.67-1G>C)
c.201G>C (p.Gln67His)
4g.6277647G=CA1435762708WFS1n.362G=
c.192G= (p.Gln64=)
c.182G=
c.-18+7633G= (n.-18+7633G=)
c.67-1G= (n.67-1G=)
c.201G= (p.Gln67=)
4g.6277647G>TCA356169814WFS1n.362G>T
c.192G>T (p.Gln64His)
c.182G>T
c.-18+7633G>T (n.-18+7633G>T)
c.67-1G>T (n.67-1G>T)
c.201G>T (p.Gln67His)
 dbSNP gnomAD v4
4g.6277648G>ACA356169815WFS1n.363G>A
c.193G>A (p.Ala65Thr)
c.183G>A
c.-18+7634G>A (n.-18+7634G>A)
c.67G>A (p.Ala23Thr)
c.202G>A (p.Ala68Thr)
 gnomAD v4
4g.6277648G>CCA356169816WFS1n.363G>C
c.193G>C (p.Ala65Pro)
c.183G>C
c.-18+7634G>C (n.-18+7634G>C)
c.67G>C (p.Ala23Pro)
c.202G>C (p.Ala68Pro)
 dbSNP gnomAD v2 gnomAD v4
4g.6277648G=CA1435762714WFS1n.363G=
c.193G= (p.Ala65=)
c.183G=
c.-18+7634G= (n.-18+7634G=)
c.67G= (p.Ala23=)
c.202G= (p.Ala68=)
4g.6277648G>TCA356169817WFS1n.363G>T
c.193G>T (p.Ala65Ser)
c.183G>T
c.-18+7634G>T (n.-18+7634G>T)
c.67G>T (p.Ala23Ser)
c.202G>T (p.Ala68Ser)
 gnomAD v4
4g.6277649C>ACA356169820WFS1n.364C>A
c.194C>A (p.Ala65Asp)
c.184C>A
c.-18+7635C>A (n.-18+7635C>A)
c.68C>A (p.Ala23Asp)
c.203C>A (p.Ala68Asp)
 gnomAD v4
4g.6277649C=CA1435762716WFS1n.364C=
c.194C= (p.Ala65=)
c.184C=
c.-18+7635C= (n.-18+7635C=)
c.68C= (p.Ala23=)
c.203C= (p.Ala68=)
4g.6277649C>GCA356169819WFS1n.364C>G
c.194C>G (p.Ala65Gly)
c.184C>G
c.-18+7635C>G (n.-18+7635C>G)
c.68C>G (p.Ala23Gly)
c.203C>G (p.Ala68Gly)
4g.6277649C>TCA356169818WFS1n.364C>T
c.194C>T (p.Ala65Val)
c.184C>T
c.-18+7635C>T (n.-18+7635C>T)
c.68C>T (p.Ala23Val)
c.203C>T (p.Ala68Val)
 dbSNP gnomAD v2 gnomAD v4
4g.6277650C>ACA438210593WFS1n.365C>A
c.195C>A (p.Ala65=)
c.185C>A
c.-18+7636C>A (n.-18+7636C>A)
c.69C>A (p.Ala23=)
c.204C>A (p.Ala68=)
 gnomAD v4
4g.6277650C=CA1435762720WFS1n.365C=
c.195C= (p.Ala65=)
c.185C=
c.-18+7636C= (n.-18+7636C=)
c.69C= (p.Ala23=)
c.204C= (p.Ala68=)
4g.6277650C>GCA438210594WFS1n.365C>G
c.195C>G (p.Ala65=)
c.185C>G
c.-18+7636C>G (n.-18+7636C>G)
c.69C>G (p.Ala23=)
c.204C>G (p.Ala68=)
 gnomAD v4
4g.6277650C>TCA91787529WFS1n.365C>T
c.195C>T (p.Ala65=)
c.185C>T
c.-18+7636C>T (n.-18+7636C>T)
c.69C>T (p.Ala23=)
c.204C>T (p.Ala68=)
 dbSNP gnomAD v4
4g.6277650_6277672delinsCCAGCATACCAGGAGCCGGGAAACA1435762722WFS1n.365_387delinsCCAGCATACCAGGAGCCGGGAAA
c.195_217delinsCCAGCATACCAGGAGCCGGGAAA (p.Ala65=)
c.185_207delinsCCAGCATACCAGGAGCCGGGAAA
c.-18+7636_-18+7658delinsCCAGCATACCAGGAGCCGGGAAA (n.-18+7636_-18+7658delinsCCAGCATACCAGGAGCCGGGAAA)
c.69_91delinsCCAGCATACCAGGAGCCGGGAAA (p.Ala23=)
c.204_226delinsCCAGCATACCAGGAGCCGGGAAA (p.Ala68=)
4g.6277651C>ACA356169821WFS1n.366C>A
c.196C>A (p.Gln66Lys)
c.186C>A
c.-18+7637C>A (n.-18+7637C>A)
c.70C>A (p.Gln24Lys)
c.205C>A (p.Gln69Lys)
 gnomAD v4
4g.6277651C=CA1435762726WFS1n.366C=
c.196C= (p.Gln66=)
c.186C=
c.-18+7637C= (n.-18+7637C=)
c.70C= (p.Gln24=)
c.205C= (p.Gln69=)
4g.6277651C>GCA356169822WFS1n.366C>G
c.196C>G (p.Gln66Glu)
c.186C>G
c.-18+7637C>G (n.-18+7637C>G)
c.70C>G (p.Gln24Glu)
c.205C>G (p.Gln69Glu)
4g.6277651C>TCA356169823WFS1n.366C>T
c.196C>T (p.Gln66Ter)
c.186C>T
c.-18+7637C>T (n.-18+7637C>T)
c.70C>T (p.Gln24Ter)
c.205C>T (p.Gln69Ter)
 dbSNP gnomAD v2 gnomAD v4
4g.6277651_6277672delCA2838816WFS1n.366_387del
c.196_217del (p.Gln66GlufsTer?)
c.186_207del
c.-18+7637_-18+7658del (n.-18+7637_-18+7658del)
c.70_91del (p.Gln24GlufsTer?)
c.205_226del (p.Gln69GlufsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.6277652A>CCA356169824WFS1n.367A>C
c.197A>C (p.Gln66Pro)
c.187A>C
c.-18+7638A>C (n.-18+7638A>C)
c.71A>C (p.Gln24Pro)
c.206A>C (p.Gln69Pro)
 dbSNP gnomAD v4
4g.6277652A>GCA356169825WFS1n.367A>G
c.197A>G (p.Gln66Arg)
c.187A>G
c.-18+7638A>G (n.-18+7638A>G)
c.71A>G (p.Gln24Arg)
c.206A>G (p.Gln69Arg)
 gnomAD v4
4g.6277652A>TCA356169826WFS1n.367A>T
c.197A>T (p.Gln66Leu)
c.187A>T
c.-18+7638A>T (n.-18+7638A>T)
c.71A>T (p.Gln24Leu)
c.206A>T (p.Gln69Leu)
4g.6277653G>ACA438210598WFS1n.368G>A
c.198G>A (p.Gln66=)
c.188G>A
c.-18+7639G>A (n.-18+7639G>A)
c.72G>A (p.Gln24=)
c.207G>A (p.Gln69=)
 gnomAD v4 COSMIC
4g.6277653G>CCA356169827WFS1n.368G>C
c.198G>C (p.Gln66His)
c.188G>C
c.-18+7639G>C (n.-18+7639G>C)
c.72G>C (p.Gln24His)
c.207G>C (p.Gln69His)
4g.6277653G>TCA356169828WFS1n.368G>T
c.198G>T (p.Gln66His)
c.188G>T
c.-18+7639G>T (n.-18+7639G>T)
c.72G>T (p.Gln24His)
c.207G>T (p.Gln69His)
 gnomAD v4
4g.6277654C>ACA356169829WFS1n.369C>A
c.199C>A (p.His67Asn)
c.189C>A
c.-18+7640C>A (n.-18+7640C>A)
c.73C>A (p.His25Asn)
c.208C>A (p.His70Asn)
 gnomAD v4
4g.6277654C>GCA356169830WFS1n.369C>G
c.199C>G (p.His67Asp)
c.189C>G
c.-18+7640C>G (n.-18+7640C>G)
c.73C>G (p.His25Asp)
c.208C>G (p.His70Asp)
 gnomAD v4
4g.6277654C>TCA356169831WFS1n.369C>T
c.199C>T (p.His67Tyr)
c.189C>T
c.-18+7640C>T (n.-18+7640C>T)
c.73C>T (p.His25Tyr)
c.208C>T (p.His70Tyr)
 gnomAD v4
4g.6277655A=CA1435754061WFS1n.370A=
c.200A= (p.His67=)
c.190A=
c.-18+7641A= (n.-18+7641A=)
c.74A= (p.His25=)
c.209A= (p.His70=)
4g.6277655A>CCA356169833WFS1n.370A>C
c.200A>C (p.His67Pro)
c.190A>C
c.-18+7641A>C (n.-18+7641A>C)
c.74A>C (p.His25Pro)
c.209A>C (p.His70Pro)
 ClinVar
4g.6277655A>GCA356169834WFS1n.370A>G
c.200A>G (p.His67Arg)
c.190A>G
c.-18+7641A>G (n.-18+7641A>G)
c.74A>G (p.His25Arg)
c.209A>G (p.His70Arg)
 dbSNP
4g.6277655A>TCA356169832WFS1n.370A>T
c.200A>T (p.His67Leu)
c.190A>T
c.-18+7641A>T (n.-18+7641A>T)
c.74A>T (p.His25Leu)
c.209A>T (p.His70Leu)
4g.6277656T>ACA356169835WFS1n.371T>A
c.201T>A (p.His67Gln)
c.191T>A
c.-18+7642T>A (n.-18+7642T>A)
c.75T>A (p.His25Gln)
c.210T>A (p.His70Gln)
4g.6277656T>CCA438210601WFS1n.371T>C
c.201T>C (p.His67=)
c.191T>C
c.-18+7642T>C (n.-18+7642T>C)
c.75T>C (p.His25=)
c.210T>C (p.His70=)
 gnomAD v4
4g.6277656T>GCA356169836WFS1n.371T>G
c.201T>G (p.His67Gln)
c.191T>G
c.-18+7642T>G (n.-18+7642T>G)
c.75T>G (p.His25Gln)
c.210T>G (p.His70Gln)
4g.6277657A=CA1435754066WFS1n.372A=
c.202A= (p.Thr68=)
c.192A=
c.-18+7643A= (n.-18+7643A=)
c.1A= (p.Thr1=)
c.76A= (p.Thr26=)
c.211A= (p.Thr71=)
4g.6277657A>CCA356169837WFS1n.372A>C
c.202A>C (p.Thr68Pro)
c.192A>C
c.-18+7643A>C (n.-18+7643A>C)
c.1A>C (p.Thr1Pro)
c.76A>C (p.Thr26Pro)
c.211A>C (p.Thr71Pro)
4g.6277657A>GCA356169838WFS1n.372A>G
c.202A>G (p.Thr68Ala)
c.192A>G
c.-18+7643A>G (n.-18+7643A>G)
c.1A>G (p.Thr1Ala)
c.76A>G (p.Thr26Ala)
c.211A>G (p.Thr71Ala)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
4g.6277657A>TCA356169839WFS1n.372A>T
c.202A>T (p.Thr68Ser)
c.192A>T
c.-18+7643A>T (n.-18+7643A>T)
c.1A>T (p.Thr1Ser)
c.76A>T (p.Thr26Ser)
c.211A>T (p.Thr71Ser)
4g.6277658C>ACA356169840WFS1n.373C>A
c.203C>A (p.Thr68Asn)
c.193C>A
c.-18+7644C>A (n.-18+7644C>A)
c.2C>A (p.Thr1Asn)
c.77C>A (p.Thr26Asn)
c.212C>A (p.Thr71Asn)
 gnomAD v4
4g.6277658C=CA1435754069WFS1n.373C=
c.203C= (p.Thr68=)
c.193C=
c.-18+7644C= (n.-18+7644C=)
c.2C= (p.Thr1=)
c.77C= (p.Thr26=)
c.212C= (p.Thr71=)
4g.6277658C>GCA356169841WFS1n.373C>G
c.203C>G (p.Thr68Ser)
c.193C>G
c.-18+7644C>G (n.-18+7644C>G)
c.2C>G (p.Thr1Ser)
c.77C>G (p.Thr26Ser)
c.212C>G (p.Thr71Ser)
4g.6277658C>TCA2838817WFS1n.373C>T
c.203C>T (p.Thr68Ile)
c.193C>T
c.-18+7644C>T (n.-18+7644C>T)
c.2C>T (p.Thr1Ile)
c.77C>T (p.Thr26Ile)
c.212C>T (p.Thr71Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6277659C>ACA438210603WFS1n.374C>A
c.204C>A (p.Thr68=)
c.194C>A
c.-18+7645C>A (n.-18+7645C>A)
c.3C>A (p.Thr1=)
c.78C>A (p.Thr26=)
c.213C>A (p.Thr71=)
 ClinVar dbSNP gnomAD v4
4g.6277659C=CA1435754071WFS1n.374C=
c.204C= (p.Thr68=)
c.194C=
c.-18+7645C= (n.-18+7645C=)
c.3C= (p.Thr1=)
c.78C= (p.Thr26=)
c.213C= (p.Thr71=)
4g.6277659C>GCA438210604WFS1n.374C>G
c.204C>G (p.Thr68=)
c.194C>G
c.-18+7645C>G (n.-18+7645C>G)
c.3C>G (p.Thr1=)
c.78C>G (p.Thr26=)
c.213C>G (p.Thr71=)
 gnomAD v4
4g.6277659C>TCA438210606WFS1n.374C>T
c.204C>T (p.Thr68=)
c.194C>T
c.-18+7645C>T (n.-18+7645C>T)
c.3C>T (p.Thr1=)
c.78C>T (p.Thr26=)
c.213C>T (p.Thr71=)
 dbSNP gnomAD v4
4g.6277660A>CCA438210608WFS1n.375A>C
c.205A>C (p.Arg69=)
c.195A>C
c.-18+7646A>C (n.-18+7646A>C)
c.4A>C (p.Arg2=)
c.79A>C (p.Arg27=)
c.214A>C (p.Arg72=)
4g.6277660A>GCA356169842WFS1n.375A>G
c.205A>G (p.Arg69Gly)
c.195A>G
c.-18+7646A>G (n.-18+7646A>G)
c.4A>G (p.Arg2Gly)
c.79A>G (p.Arg27Gly)
c.214A>G (p.Arg72Gly)
 gnomAD v4
4g.6277660A>TCA356169843WFS1n.375A>T
c.205A>T (p.Arg69Trp)
c.195A>T
c.-18+7646A>T (n.-18+7646A>T)
c.4A>T (p.Arg2Trp)
c.79A>T (p.Arg27Trp)
c.214A>T (p.Arg72Trp)
 gnomAD v4
4g.6277661G>ACA356169846WFS1n.376G>A
c.206G>A (p.Arg69Lys)
c.196G>A
c.-18+7647G>A (n.-18+7647G>A)
c.5G>A (p.Arg2Lys)
c.80G>A (p.Arg27Lys)
c.215G>A (p.Arg72Lys)
 gnomAD v4
4g.6277661G>CCA356169845WFS1n.376G>C
c.206G>C (p.Arg69Thr)
c.196G>C
c.-18+7647G>C (n.-18+7647G>C)
c.5G>C (p.Arg2Thr)
c.80G>C (p.Arg27Thr)
c.215G>C (p.Arg72Thr)
4g.6277661G>TCA356169844WFS1n.376G>T
c.206G>T (p.Arg69Met)
c.196G>T
c.-18+7647G>T (n.-18+7647G>T)
c.5G>T (p.Arg2Met)
c.80G>T (p.Arg27Met)
c.215G>T (p.Arg72Met)
 gnomAD v4
4g.6277662G>ACA438210609WFS1n.377G>A
c.207G>A (p.Arg69=)
c.197G>A
c.-18+7648G>A (n.-18+7648G>A)
c.6G>A (p.Arg2=)
c.81G>A (p.Arg27=)
c.216G>A (p.Arg72=)
4g.6277662G>CCA356169847WFS1n.377G>C
c.207G>C (p.Arg69Ser)
c.197G>C
c.-18+7648G>C (n.-18+7648G>C)
c.6G>C (p.Arg2Ser)
c.81G>C (p.Arg27Ser)
c.216G>C (p.Arg72Ser)
4g.6277662G>TCA356169848WFS1n.377G>T
c.207G>T (p.Arg69Ser)
c.197G>T
c.-18+7648G>T (n.-18+7648G>T)
c.6G>T (p.Arg2Ser)
c.81G>T (p.Arg27Ser)
c.216G>T (p.Arg72Ser)
 gnomAD v4
4g.6277663A>CCA356169849WFS1n.378A>C
c.208A>C (p.Ser70Arg)
c.198A>C
c.-18+7649A>C (n.-18+7649A>C)
c.7A>C (p.Ser3Arg)
c.82A>C (p.Ser28Arg)
c.217A>C (p.Ser73Arg)
4g.6277663A>GCA356169850WFS1n.378A>G
c.208A>G (p.Ser70Gly)
c.198A>G
c.-18+7649A>G (n.-18+7649A>G)
c.7A>G (p.Ser3Gly)
c.82A>G (p.Ser28Gly)
c.217A>G (p.Ser73Gly)
4g.6277663A>TCA356169851WFS1n.378A>T
c.208A>T (p.Ser70Cys)
c.198A>T
c.-18+7649A>T (n.-18+7649A>T)
c.7A>T (p.Ser3Cys)
c.82A>T (p.Ser28Cys)
c.217A>T (p.Ser73Cys)
 gnomAD v4
4g.6277664G>ACA356169852WFS1n.379G>A
c.209G>A (p.Ser70Asn)
c.199G>A
c.-18+7650G>A (n.-18+7650G>A)
c.8G>A (p.Ser3Asn)
c.83G>A (p.Ser28Asn)
c.218G>A (p.Ser73Asn)
 dbSNP gnomAD v4
4g.6277664G>CCA356169853WFS1n.379G>C
c.209G>C (p.Ser70Thr)
c.199G>C
c.-18+7650G>C (n.-18+7650G>C)
c.8G>C (p.Ser3Thr)
c.83G>C (p.Ser28Thr)
c.218G>C (p.Ser73Thr)
4g.6277664G=CA1435754073WFS1n.379G=
c.209G= (p.Ser70=)
c.199G=
c.-18+7650G= (n.-18+7650G=)
c.8G= (p.Ser3=)
c.83G= (p.Ser28=)
c.218G= (p.Ser73=)
4g.6277664G>TCA356169854WFS1n.379G>T
c.209G>T (p.Ser70Ile)
c.199G>T
c.-18+7650G>T (n.-18+7650G>T)
c.8G>T (p.Ser3Ile)
c.83G>T (p.Ser28Ile)
c.218G>T (p.Ser73Ile)
 dbSNP gnomAD v4
4g.6277665C>ACA91787548WFS1n.380C>A
c.210C>A (p.Ser70Arg)
c.200C>A
c.-18+7651C>A (n.-18+7651C>A)
c.9C>A (p.Ser3Arg)
c.84C>A (p.Ser28Arg)
c.219C>A (p.Ser73Arg)
 dbSNP gnomAD v4
4g.6277665C=CA1435754075WFS1n.380C=
c.210C= (p.Ser70=)
c.200C=
c.-18+7651C= (n.-18+7651C=)
c.9C= (p.Ser3=)
c.84C= (p.Ser28=)
c.219C= (p.Ser73=)
4g.6277665C>GCA356169855WFS1n.380C>G
c.210C>G (p.Ser70Arg)
c.200C>G
c.-18+7651C>G (n.-18+7651C>G)
c.9C>G (p.Ser3Arg)
c.84C>G (p.Ser28Arg)
c.219C>G (p.Ser73Arg)
4g.6277665C>TCA438210615WFS1n.380C>T
c.210C>T (p.Ser70=)
c.200C>T
c.-18+7651C>T (n.-18+7651C>T)
c.9C>T (p.Ser3=)
c.84C>T (p.Ser28=)
c.219C>T (p.Ser73=)
 gnomAD v4
4g.6277666C>ACA438210616WFS1n.381C>A
c.211C>A (p.Arg71=)
c.201C>A
c.-18+7652C>A (n.-18+7652C>A)
c.10C>A (p.Arg4=)
c.85C>A (p.Arg29=)
c.220C>A (p.Arg74=)
 gnomAD v4
4g.6277666C=CA1435754077WFS1n.381C=
c.211C= (p.Arg71=)
c.201C=
c.-18+7652C= (n.-18+7652C=)
c.10C= (p.Arg4=)
c.85C= (p.Arg29=)
c.220C= (p.Arg74=)
4g.6277666C>GCA356169856WFS1n.381C>G
c.211C>G (p.Arg71Gly)
c.201C>G
c.-18+7652C>G (n.-18+7652C>G)
c.10C>G (p.Arg4Gly)
c.85C>G (p.Arg29Gly)
c.220C>G (p.Arg74Gly)
4g.6277666C>TCA2838818WFS1n.381C>T
c.211C>T (p.Arg71Trp)
c.201C>T
c.-18+7652C>T (n.-18+7652C>T)
c.10C>T (p.Arg4Trp)
c.85C>T (p.Arg29Trp)
c.220C>T (p.Arg74Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6277667G>ACA2838819WFS1n.382G>A
c.212G>A (p.Arg71Gln)
c.202G>A
c.-18+7653G>A (n.-18+7653G>A)
c.11G>A (p.Arg4Gln)
c.86G>A (p.Arg29Gln)
c.221G>A (p.Arg74Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6277667G>CCA356169858WFS1n.382G>C
c.212G>C (p.Arg71Pro)
c.202G>C
c.-18+7653G>C (n.-18+7653G>C)
c.11G>C (p.Arg4Pro)
c.86G>C (p.Arg29Pro)
c.221G>C (p.Arg74Pro)
 gnomAD v4
4g.6277667G=CA1435754080WFS1n.382G=
c.212G= (p.Arg71=)
c.202G=
c.-18+7653G= (n.-18+7653G=)
c.11G= (p.Arg4=)
c.86G= (p.Arg29=)
c.221G= (p.Arg74=)
4g.6277667G>TCA356169857WFS1n.382G>T
c.212G>T (p.Arg71Leu)
c.202G>T
c.-18+7653G>T (n.-18+7653G>T)
c.11G>T (p.Arg4Leu)
c.86G>T (p.Arg29Leu)
c.221G>T (p.Arg74Leu)
 dbSNP gnomAD v3 gnomAD v4
4g.6277668G>ACA438210619WFS1n.383G>A
c.213G>A (p.Arg71=)
c.203G>A
c.-18+7654G>A (n.-18+7654G>A)
c.12G>A (p.Arg4=)
c.87G>A (p.Arg29=)
c.222G>A (p.Arg74=)
4g.6277668G>CCA438210620WFS1n.383G>C
c.213G>C (p.Arg71=)
c.203G>C
c.-18+7654G>C (n.-18+7654G>C)
c.12G>C (p.Arg4=)
c.87G>C (p.Arg29=)
c.222G>C (p.Arg74=)
 gnomAD v4
4g.6277668G>TCA438210621WFS1n.383G>T
c.213G>T (p.Arg71=)
c.203G>T
c.-18+7654G>T (n.-18+7654G>T)
c.12G>T (p.Arg4=)
c.87G>T (p.Arg29=)
c.222G>T (p.Arg74=)
 gnomAD v4
4g.6277669G>ACA356169859WFS1n.384G>A
c.214G>A (p.Glu72Lys)
c.204G>A
c.-18+7655G>A (n.-18+7655G>A)
c.13G>A (p.Glu5Lys)
c.88G>A (p.Glu30Lys)
c.223G>A (p.Glu75Lys)
 dbSNP gnomAD v4
4g.6277669G>CCA356169860WFS1n.384G>C
c.214G>C (p.Glu72Gln)
c.204G>C
c.-18+7655G>C (n.-18+7655G>C)
c.13G>C (p.Glu5Gln)
c.88G>C (p.Glu30Gln)
c.223G>C (p.Glu75Gln)
4g.6277669G=CA1435754084WFS1n.384G=
c.214G= (p.Glu72=)
c.204G=
c.-18+7655G= (n.-18+7655G=)
c.13G= (p.Glu5=)
c.88G= (p.Glu30=)
c.223G= (p.Glu75=)
4g.6277669G>TCA356169861WFS1n.384G>T
c.214G>T (p.Glu72Ter)
c.204G>T
c.-18+7655G>T (n.-18+7655G>T)
c.13G>T (p.Glu5Ter)
c.88G>T (p.Glu30Ter)
c.223G>T (p.Glu75Ter)
4g.6277670A>CCA356169862WFS1n.385A>C
c.215A>C (p.Glu72Ala)
c.205A>C
c.-18+7656A>C (n.-18+7656A>C)
c.14A>C (p.Glu5Ala)
c.89A>C (p.Glu30Ala)
c.224A>C (p.Glu75Ala)
4g.6277670A>GCA356169863WFS1n.385A>G
c.215A>G (p.Glu72Gly)
c.205A>G
c.-18+7656A>G (n.-18+7656A>G)
c.14A>G (p.Glu5Gly)
c.89A>G (p.Glu30Gly)
c.224A>G (p.Glu75Gly)
 gnomAD v4
4g.6277670A>TCA356169864WFS1n.385A>T
c.215A>T (p.Glu72Val)
c.205A>T
c.-18+7656A>T (n.-18+7656A>T)
c.14A>T (p.Glu5Val)
c.89A>T (p.Glu30Val)
c.224A>T (p.Glu75Val)
4g.6277672delCA2669824906WFS1n.387del
c.217del (p.Arg73GlufsTer?)
c.207del
c.-18+7658del (n.-18+7658del)
c.16del (p.Arg6GlufsTer?)
c.91del (p.Arg31GlufsTer?)
c.226del (p.Arg76GlufsTer?)
 gnomAD v4
4g.6277671A>CCA356169866WFS1n.386A>C
c.216A>C (p.Glu72Asp)
c.206A>C
c.-18+7657A>C (n.-18+7657A>C)
c.15A>C (p.Glu5Asp)
c.90A>C (p.Glu30Asp)
c.225A>C (p.Glu75Asp)
4g.6277671A>GCA438210623WFS1n.386A>G
c.216A>G (p.Glu72=)
c.206A>G
c.-18+7657A>G (n.-18+7657A>G)
c.15A>G (p.Glu5=)
c.90A>G (p.Glu30=)
c.225A>G (p.Glu75=)
4g.6277671A>TCA356169865WFS1n.386A>T
c.216A>T (p.Glu72Asp)
c.206A>T
c.-18+7657A>T (n.-18+7657A>T)
c.15A>T (p.Glu5Asp)
c.90A>T (p.Glu30Asp)
c.225A>T (p.Glu75Asp)
4g.6277672A=CA1435754085WFS1n.387A=
c.217A= (p.Arg73=)
c.207A=
c.-18+7658A= (n.-18+7658A=)
c.16A= (p.Arg6=)
c.91A= (p.Arg31=)
c.226A= (p.Arg76=)
4g.6277672A>CCA438210624WFS1n.387A>C
c.217A>C (p.Arg73=)
c.207A>C
c.-18+7658A>C (n.-18+7658A>C)
c.16A>C (p.Arg6=)
c.91A>C (p.Arg31=)
c.226A>C (p.Arg76=)
 dbSNP
4g.6277672A>GCA356169867WFS1n.387A>G
c.217A>G (p.Arg73Gly)
c.207A>G
c.-18+7658A>G (n.-18+7658A>G)
c.16A>G (p.Arg6Gly)
c.91A>G (p.Arg31Gly)
c.226A>G (p.Arg76Gly)
 dbSNP gnomAD v2 gnomAD v4
4g.6277672A>TCA356169868WFS1n.387A>T
c.217A>T (p.Arg73Ter)
c.207A>T
c.-18+7658A>T (n.-18+7658A>T)
c.16A>T (p.Arg6Ter)
c.91A>T (p.Arg31Ter)
c.226A>T (p.Arg76Ter)
4g.6277673G>ACA356169869WFS1n.388G>A
c.218G>A (p.Arg73Lys)
c.208G>A
c.-18+7659G>A (n.-18+7659G>A)
c.17G>A (p.Arg6Lys)
c.92G>A (p.Arg31Lys)
c.227G>A (p.Arg76Lys)
 dbSNP gnomAD v4
4g.6277673G>CCA356169870WFS1n.388G>C
c.218G>C (p.Arg73Thr)
c.208G>C
c.-18+7659G>C (n.-18+7659G>C)
c.17G>C (p.Arg6Thr)
c.92G>C (p.Arg31Thr)
c.227G>C (p.Arg76Thr)
4g.6277673G=CA1435754087WFS1n.388G=
c.218G= (p.Arg73=)
c.208G=
c.-18+7659G= (n.-18+7659G=)
c.17G= (p.Arg6=)
c.92G= (p.Arg31=)
c.227G= (p.Arg76=)
4g.6277673G>TCA356169871WFS1n.388G>T
c.218G>T (p.Arg73Ile)
c.208G>T
c.-18+7659G>T (n.-18+7659G>T)
c.17G>T (p.Arg6Ile)
c.92G>T (p.Arg31Ile)
c.227G>T (p.Arg76Ile)
 ClinVar gnomAD v4
4g.6277674A>CCA356169872WFS1n.389A>C
c.219A>C (p.Arg73Ser)
c.209A>C
c.-18+7660A>C (n.-18+7660A>C)
c.18A>C (p.Arg6Ser)
c.93A>C (p.Arg31Ser)
c.228A>C (p.Arg76Ser)
4g.6277674A>GCA438210627WFS1n.389A>G
c.219A>G (p.Arg73=)
c.209A>G
c.-18+7660A>G (n.-18+7660A>G)
c.18A>G (p.Arg6=)
c.93A>G (p.Arg31=)
c.228A>G (p.Arg76=)
 gnomAD v4
4g.6277674A>TCA356169873WFS1n.389A>T
c.219A>T (p.Arg73Ser)
c.209A>T
c.-18+7660A>T (n.-18+7660A>T)
c.18A>T (p.Arg6Ser)
c.93A>T (p.Arg31Ser)
c.228A>T (p.Arg76Ser)
4g.6277675G>ACA2838820WFS1n.390G>A
c.220G>A (p.Ala74Thr)
c.210G>A
c.-18+7661G>A (n.-18+7661G>A)
c.19G>A (p.Ala7Thr)
c.94G>A (p.Ala32Thr)
c.229G>A (p.Ala77Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6277675G>CCA356169875WFS1n.390G>C
c.220G>C (p.Ala74Pro)
c.210G>C
c.-18+7661G>C (n.-18+7661G>C)
c.19G>C (p.Ala7Pro)
c.94G>C (p.Ala32Pro)
c.229G>C (p.Ala77Pro)
4g.6277675G=CA1435754089WFS1n.390G=
c.220G= (p.Ala74=)
c.210G=
c.-18+7661G= (n.-18+7661G=)
c.19G= (p.Ala7=)
c.94G= (p.Ala32=)
c.229G= (p.Ala77=)
4g.6277675G>TCA356169874WFS1n.390G>T
c.220G>T (p.Ala74Ser)
c.210G>T
c.-18+7661G>T (n.-18+7661G>T)
c.19G>T (p.Ala7Ser)
c.94G>T (p.Ala32Ser)
c.229G>T (p.Ala77Ser)
 gnomAD v4
4g.6277676C>ACA356169876WFS1n.391C>A
c.221C>A (p.Ala74Glu)
c.211C>A
c.-18+7662C>A (n.-18+7662C>A)
c.20C>A (p.Ala7Glu)
c.95C>A (p.Ala32Glu)
c.230C>A (p.Ala77Glu)
 gnomAD v4
4g.6277676C>GCA356169877WFS1n.391C>G
c.221C>G (p.Ala74Gly)
c.211C>G
c.-18+7662C>G (n.-18+7662C>G)
c.20C>G (p.Ala7Gly)
c.95C>G (p.Ala32Gly)
c.230C>G (p.Ala77Gly)
4g.6277676C>TCA356169878WFS1n.391C>T
c.221C>T (p.Ala74Val)
c.211C>T
c.-18+7662C>T (n.-18+7662C>T)
c.20C>T (p.Ala7Val)
c.95C>T (p.Ala32Val)
c.230C>T (p.Ala77Val)
 gnomAD v4
4g.6277677A>CCA438210628WFS1n.392A>C
c.222A>C (p.Ala74=)
c.212A>C
c.-18+7663A>C (n.-18+7663A>C)
c.21A>C (p.Ala7=)
c.96A>C (p.Ala32=)
c.231A>C (p.Ala77=)
4g.6277677A>GCA438210630WFS1n.392A>G
c.222A>G (p.Ala74=)
c.212A>G
c.-18+7663A>G (n.-18+7663A>G)
c.21A>G (p.Ala7=)
c.96A>G (p.Ala32=)
c.231A>G (p.Ala77=)
 gnomAD v4
4g.6277677A>TCA438210631WFS1n.392A>T
c.222A>T (p.Ala74=)
c.212A>T
c.-18+7663A>T (n.-18+7663A>T)
c.21A>T (p.Ala7=)
c.96A>T (p.Ala32=)
c.231A>T (p.Ala77=)
4g.6277684_6277685insAAGACGGCACA2669824924WFS1n.399_400insAAGACGGCA
c.229_230insAAGACGGCA (p.Gly76_Thr77insLysAspGly)
c.219_220insAAGACGGCA
c.-18+7670_-18+7671insAAGACGGCA (n.-18+7670_-18+7671insAAGACGGCA)
c.28_29insAAGACGGCA (p.Gly9_Thr10insLysAspGly)
c.103_104insAAGACGGCA (p.Gly34_Thr35insLysAspGly)
c.238_239insAAGACGGCA (p.Gly79_Thr80insLysAspGly)
 gnomAD v4
4g.6277678G>ACA356169879WFS1n.393G>A
c.223G>A (p.Asp75Asn)
c.213G>A
c.-18+7664G>A (n.-18+7664G>A)
c.22G>A (p.Asp8Asn)
c.97G>A (p.Asp33Asn)
c.232G>A (p.Asp78Asn)
 gnomAD v4
4g.6277678G>CCA356169880WFS1n.393G>C
c.223G>C (p.Asp75His)
c.213G>C
c.-18+7664G>C (n.-18+7664G>C)
c.22G>C (p.Asp8His)
c.97G>C (p.Asp33His)
c.232G>C (p.Asp78His)
 dbSNP
4g.6277678G=CA1435754090WFS1n.393G=
c.223G= (p.Asp75=)
c.213G=
c.-18+7664G= (n.-18+7664G=)
c.22G= (p.Asp8=)
c.97G= (p.Asp33=)
c.232G= (p.Asp78=)
4g.6277678G>TCA356169881WFS1n.393G>T
c.223G>T (p.Asp75Tyr)
c.213G>T
c.-18+7664G>T (n.-18+7664G>T)
c.22G>T (p.Asp8Tyr)
c.97G>T (p.Asp33Tyr)
c.232G>T (p.Asp78Tyr)
 gnomAD v4
4g.6277679A>CCA356169882WFS1n.394A>C
c.224A>C (p.Asp75Ala)
c.214A>C
c.-18+7665A>C (n.-18+7665A>C)
c.23A>C (p.Asp8Ala)
c.98A>C (p.Asp33Ala)
c.233A>C (p.Asp78Ala)
 gnomAD v4
4g.6277679A>GCA356169883WFS1n.394A>G
c.224A>G (p.Asp75Gly)
c.214A>G
c.-18+7665A>G (n.-18+7665A>G)
c.23A>G (p.Asp8Gly)
c.98A>G (p.Asp33Gly)
c.233A>G (p.Asp78Gly)
4g.6277679A>TCA356169884WFS1n.394A>T
c.224A>T (p.Asp75Val)
c.214A>T
c.-18+7665A>T (n.-18+7665A>T)
c.23A>T (p.Asp8Val)
c.98A>T (p.Asp33Val)
c.233A>T (p.Asp78Val)
4g.6277680C>ACA356169885WFS1n.395C>A
c.225C>A (p.Asp75Glu)
c.215C>A
c.-18+7666C>A (n.-18+7666C>A)
c.24C>A (p.Asp8Glu)
c.99C>A (p.Asp33Glu)
c.234C>A (p.Asp78Glu)
 gnomAD v4
4g.6277680C=CA1435754092WFS1n.395C=
c.225C= (p.Asp75=)
c.215C=
c.-18+7666C= (n.-18+7666C=)
c.24C= (p.Asp8=)
c.99C= (p.Asp33=)
c.234C= (p.Asp78=)
4g.6277680C>GCA356169886WFS1n.395C>G
c.225C>G (p.Asp75Glu)
c.215C>G
c.-18+7666C>G (n.-18+7666C>G)
c.24C>G (p.Asp8Glu)
c.99C>G (p.Asp33Glu)
c.234C>G (p.Asp78Glu)
4g.6277680C>TCA179629WFS1n.395C>T
c.225C>T (p.Asp75=)
c.215C>T
c.-18+7666C>T (n.-18+7666C>T)
c.24C>T (p.Asp8=)
c.99C>T (p.Asp33=)
c.234C>T (p.Asp78=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6277681G>ACA2838821WFS1n.396G>A
c.226G>A (p.Gly76Ser)
c.216G>A
c.-18+7667G>A (n.-18+7667G>A)
c.25G>A (p.Gly9Ser)
c.100G>A (p.Gly34Ser)
c.235G>A (p.Gly79Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6277681G>CCA356169888WFS1n.396G>C
c.226G>C (p.Gly76Arg)
c.216G>C
c.-18+7667G>C (n.-18+7667G>C)
c.25G>C (p.Gly9Arg)
c.100G>C (p.Gly34Arg)
c.235G>C (p.Gly79Arg)
 dbSNP gnomAD v2 gnomAD v4
4g.6277681G=CA1435754098WFS1n.396G=
c.226G= (p.Gly76=)
c.216G=
c.-18+7667G= (n.-18+7667G=)
c.25G= (p.Gly9=)
c.100G= (p.Gly34=)
c.235G= (p.Gly79=)
4g.6277681G>TCA356169887WFS1n.396G>T
c.226G>T (p.Gly76Cys)
c.216G>T
c.-18+7667G>T (n.-18+7667G>T)
c.25G>T (p.Gly9Cys)
c.100G>T (p.Gly34Cys)
c.235G>T (p.Gly79Cys)
 gnomAD v4
4g.6277682delCA2760283576WFS1n.397del
c.227del (p.Gly76AlafsTer?)
c.217del
c.-18+7668del (n.-18+7668del)
c.26del (p.Gly9AlafsTer?)
c.101del (p.Gly34AlafsTer?)
c.236del (p.Gly79AlafsTer?)
4g.6277682G>ACA91787590WFS1n.397G>A
c.227G>A (p.Gly76Asp)
c.217G>A
c.-18+7668G>A (n.-18+7668G>A)
c.26G>A (p.Gly9Asp)
c.101G>A (p.Gly34Asp)
c.236G>A (p.Gly79Asp)
 dbSNP gnomAD v4
4g.6277682G>CCA356169889WFS1n.397G>C
c.227G>C (p.Gly76Ala)
c.217G>C
c.-18+7668G>C (n.-18+7668G>C)
c.26G>C (p.Gly9Ala)
c.101G>C (p.Gly34Ala)
c.236G>C (p.Gly79Ala)
 dbSNP
4g.6277682G=CA1435754108WFS1n.397G=
c.227G= (p.Gly76=)
c.217G=
c.-18+7668G= (n.-18+7668G=)
c.26G= (p.Gly9=)
c.101G= (p.Gly34=)
c.236G= (p.Gly79=)
4g.6277682G>TCA322171WFS1n.397G>T
c.227G>T (p.Gly76Val)
c.217G>T
c.-18+7668G>T (n.-18+7668G>T)
c.26G>T (p.Gly9Val)
c.101G>T (p.Gly34Val)
c.236G>T (p.Gly79Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6277683C>ACA438210635WFS1n.398C>A
c.228C>A (p.Gly76=)
c.218C>A
c.-18+7669C>A (n.-18+7669C>A)
c.27C>A (p.Gly9=)
c.102C>A (p.Gly34=)
c.237C>A (p.Gly79=)
 gnomAD v4
4g.6277683C=CA1435754111WFS1n.398C=
c.228C= (p.Gly76=)
c.218C=
c.-18+7669C= (n.-18+7669C=)
c.27C= (p.Gly9=)
c.102C= (p.Gly34=)
c.237C= (p.Gly79=)
4g.6277683C>GCA438210636WFS1n.398C>G
c.228C>G (p.Gly76=)
c.218C>G
c.-18+7669C>G (n.-18+7669C>G)
c.27C>G (p.Gly9=)
c.102C>G (p.Gly34=)
c.237C>G (p.Gly79=)
4g.6277683C>TCA2838822WFS1n.398C>T
c.228C>T (p.Gly76=)
c.218C>T
c.-18+7669C>T (n.-18+7669C>T)
c.27C>T (p.Gly9=)
c.102C>T (p.Gly34=)
c.237C>T (p.Gly79=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6277684A>CCA356169890WFS1n.399A>C
c.229A>C (p.Thr77Pro)
c.219A>C
c.-18+7670A>C (n.-18+7670A>C)
c.28A>C (p.Thr10Pro)
c.103A>C (p.Thr35Pro)
c.238A>C (p.Thr80Pro)
 gnomAD v4
4g.6277684A>GCA356169891WFS1n.399A>G
c.229A>G (p.Thr77Ala)
c.219A>G
c.-18+7670A>G (n.-18+7670A>G)
c.28A>G (p.Thr10Ala)
c.103A>G (p.Thr35Ala)
c.238A>G (p.Thr80Ala)
 COSMIC
4g.6277684A>TCA356169892WFS1n.399A>T
c.229A>T (p.Thr77Ser)
c.219A>T
c.-18+7670A>T (n.-18+7670A>T)
c.28A>T (p.Thr10Ser)
c.103A>T (p.Thr35Ser)
c.238A>T (p.Thr80Ser)
4g.6277684_6277685delinsCACA2580071762WFS1n.399_400delinsCA
c.229_230delinsCA (p.Thr77His)
c.219_220delinsCA
c.-18+7670_-18+7671delinsCA (n.-18+7670_-18+7671delinsCA)
c.28_29delinsCA (p.Thr10His)
c.103_104delinsCA (p.Thr35His)
c.238_239delinsCA (p.Thr80His)
 ClinVar
4g.6277685C>ACA356169893WFS1n.400C>A
c.230C>A (p.Thr77Asn)
c.220C>A
c.-18+7671C>A (n.-18+7671C>A)
c.29C>A (p.Thr10Asn)
c.104C>A (p.Thr35Asn)
c.239C>A (p.Thr80Asn)
 gnomAD v4
4g.6277685C=CA1435754115WFS1n.400C=
c.230C= (p.Thr77=)
c.220C=
c.-18+7671C= (n.-18+7671C=)
c.29C= (p.Thr10=)
c.104C= (p.Thr35=)
c.239C= (p.Thr80=)
4g.6277685C>GCA356169895WFS1n.400C>G
c.230C>G (p.Thr77Ser)
c.220C>G
c.-18+7671C>G (n.-18+7671C>G)
c.29C>G (p.Thr10Ser)
c.104C>G (p.Thr35Ser)
c.239C>G (p.Thr80Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6277685C>TCA356169894WFS1n.400C>T
c.230C>T (p.Thr77Ile)
c.220C>T
c.-18+7671C>T (n.-18+7671C>T)
c.29C>T (p.Thr10Ile)
c.104C>T (p.Thr35Ile)
c.239C>T (p.Thr80Ile)
 dbSNP gnomAD v2 gnomAD v4
4g.6277686delCA2669824978WFS1n.401del
c.231del (p.Glu78AsnfsTer?)
c.231del (p.Pro79LeufsTer?)
c.221del
c.-18+7672del (n.-18+7672del)
c.30del (p.Pro12LeufsTer?)
c.105del (p.Pro37LeufsTer?)
c.240del (p.Pro82LeufsTer?)
 gnomAD v4
4g.6277686C>ACA438210639WFS1n.401C>A
c.231C>A (p.Thr77=)
c.221C>A
c.-18+7672C>A (n.-18+7672C>A)
c.30C>A (p.Thr10=)
c.105C>A (p.Thr35=)
c.240C>A (p.Thr80=)
 gnomAD v4
4g.6277686C=CA1435754118WFS1n.401C=
c.231C= (p.Thr77=)
c.221C=
c.-18+7672C= (n.-18+7672C=)
c.30C= (p.Thr10=)
c.105C= (p.Thr35=)
c.240C= (p.Thr80=)
4g.6277686C>GCA438210640WFS1n.401C>G
c.231C>G (p.Thr77=)
c.221C>G
c.-18+7672C>G (n.-18+7672C>G)
c.30C>G (p.Thr10=)
c.105C>G (p.Thr35=)
c.240C>G (p.Thr80=)
4g.6277686C>TCA2838823WFS1n.401C>T
c.231C>T (p.Thr77=)
c.221C>T
c.-18+7672C>T (n.-18+7672C>T)
c.30C>T (p.Thr10=)
c.105C>T (p.Thr35=)
c.240C>T (p.Thr80=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.6277687G>ACA91787597WFS1n.402G>A
c.232G>A (p.Glu78Lys)
c.232G>A (p.Gly78Arg)
c.222G>A
c.-18+7673G>A (n.-18+7673G>A)
c.31G>A (p.Gly11Arg)
c.106G>A (p.Gly36Arg)
c.241G>A (p.Gly81Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6277687G>CCA356169896WFS1n.402G>C
c.232G>C (p.Glu78Gln)
c.232G>C (p.Gly78Arg)
c.222G>C
c.-18+7673G>C (n.-18+7673G>C)
c.31G>C (p.Gly11Arg)
c.106G>C (p.Gly36Arg)
c.241G>C (p.Gly81Arg)
4g.6277687G=CA1435754120WFS1n.402G=
c.232G= (p.Glu78=)
c.232G= (p.Gly78=)
c.222G=
c.-18+7673G= (n.-18+7673G=)
c.31G= (p.Gly11=)
c.106G= (p.Gly36=)
c.241G= (p.Gly81=)
4g.6277687G>TCA356169897WFS1n.402G>T
c.232G>T (p.Glu78Ter)
c.232G>T (p.Gly78Trp)
c.222G>T
c.-18+7673G>T (n.-18+7673G>T)
c.31G>T (p.Gly11Trp)
c.106G>T (p.Gly36Trp)
c.241G>T (p.Gly81Trp)
 gnomAD v4
4g.6277688G>ACA356169898WFS1n.402+1G>A
c.232+1G>A (n.232+1G>A)
c.222+1G>A
c.-18+7674G>A (n.-18+7674G>A)
c.31+1G>A (n.31+1G>A)
c.106+1G>A (n.106+1G>A)
c.241+1G>A (n.241+1G>A)
 gnomAD v4
4g.6277688G>CCA356169900WFS1n.402+1G>C
c.232+1G>C (n.232+1G>C)
c.222+1G>C
c.-18+7674G>C (n.-18+7674G>C)
c.31+1G>C (n.31+1G>C)
c.106+1G>C (n.106+1G>C)
c.241+1G>C (n.241+1G>C)
4g.6277688G>TCA356169899WFS1n.402+1G>T
c.232+1G>T (n.232+1G>T)
c.222+1G>T
c.-18+7674G>T (n.-18+7674G>T)
c.31+1G>T (n.31+1G>T)
c.106+1G>T (n.106+1G>T)
c.241+1G>T (n.241+1G>T)
 gnomAD v4
4g.6277689T>ACA356169901WFS1n.402+2T>A
c.232+2T>A (n.232+2T>A)
c.222+2T>A
c.-18+7675T>A (n.-18+7675T>A)
c.31+2T>A (n.31+2T>A)
c.106+2T>A (n.106+2T>A)
c.241+2T>A (n.241+2T>A)
4g.6277689T>CCA356169902WFS1n.402+2T>C
c.232+2T>C (n.232+2T>C)
c.222+2T>C
c.-18+7675T>C (n.-18+7675T>C)
c.31+2T>C (n.31+2T>C)
c.106+2T>C (n.106+2T>C)
c.241+2T>C (n.241+2T>C)
 gnomAD v4
4g.6277689T>GCA356169903WFS1n.402+2T>G
c.232+2T>G (n.232+2T>G)
c.222+2T>G
c.-18+7675T>G (n.-18+7675T>G)
c.31+2T>G (n.31+2T>G)
c.106+2T>G (n.106+2T>G)
c.241+2T>G (n.241+2T>G)
4g.6277690A=CA1435754123WFS1n.402+3A=
c.232+3A= (n.232+3A=)
c.222+3A=
c.-18+7676A= (n.-18+7676A=)
c.31+3A= (n.31+3A=)
c.106+3A= (n.106+3A=)
c.241+3A= (n.241+3A=)
4g.6277690A>GCA1058881858WFS1n.402+3A>G
c.232+3A>G (n.232+3A>G)
c.222+3A>G
c.-18+7676A>G (n.-18+7676A>G)
c.31+3A>G (n.31+3A>G)
c.106+3A>G (n.106+3A>G)
c.241+3A>G (n.241+3A>G)
 dbSNP gnomAD v3 gnomAD v4
4g.6277690A>TCA2669824991WFS1n.402+3A>T
c.232+3A>T (n.232+3A>T)
c.222+3A>T
c.-18+7676A>T (n.-18+7676A>T)
c.31+3A>T (n.31+3A>T)
c.106+3A>T (n.106+3A>T)
c.241+3A>T (n.241+3A>T)
 gnomAD v4
4g.6277691A=CA1435754125WFS1n.402+4A=
c.232+4A= (n.232+4A=)
c.222+4A=
c.-18+7677A= (n.-18+7677A=)
c.31+4A= (n.31+4A=)
c.106+4A= (n.106+4A=)
c.241+4A= (n.241+4A=)
4g.6277691A>GCA549707950WFS1n.402+4A>G
c.232+4A>G (n.232+4A>G)
c.222+4A>G
c.-18+7677A>G (n.-18+7677A>G)
c.31+4A>G (n.31+4A>G)
c.106+4A>G (n.106+4A>G)
c.241+4A>G (n.241+4A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.6277691A>TCA2669824992WFS1n.402+4A>T
c.232+4A>T (n.232+4A>T)
c.222+4A>T
c.-18+7677A>T (n.-18+7677A>T)
c.31+4A>T (n.31+4A>T)
c.106+4A>T (n.106+4A>T)
c.241+4A>T (n.241+4A>T)
 gnomAD v4

Number of alleles fetched