Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.6277579delCA16618050WFS1n.294del
c.124del (p.Arg42GlufsTer?)
c.114del
c.-18+7565del (n.-18+7565del)
c.66+58del (n.66+58del)
c.133del (p.Arg45GlufsTer?)
 ClinVar dbSNP
4g.6277579C>ACA438210496WFS1n.294C>A
c.124C>A (p.Arg42=)
c.114C>A
c.-18+7565C>A (n.-18+7565C>A)
c.66+58C>A (n.66+58C>A)
c.133C>A (p.Arg45=)
 gnomAD v4
4g.6277579C=CA1435762550WFS1n.294C=
c.124C= (p.Arg42=)
c.114C=
c.-18+7565C= (n.-18+7565C=)
c.66+58C= (n.66+58C=)
c.133C= (p.Arg45=)
4g.6277579C>GCA91787384WFS1n.294C>G
c.124C>G (p.Arg42Gly)
c.114C>G
c.-18+7565C>G (n.-18+7565C>G)
c.66+58C>G (n.66+58C>G)
c.133C>G (p.Arg45Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6277579C>TCA274502WFS1n.294C>T
c.124C>T (p.Arg42Ter)
c.114C>T
c.-18+7565C>T (n.-18+7565C>T)
c.66+58C>T (n.66+58C>T)
c.133C>T (p.Arg45Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6277580G>ACA2838801WFS1n.295G>A
c.125G>A (p.Arg42Gln)
c.115G>A
c.-18+7566G>A (n.-18+7566G>A)
c.66+59G>A (n.66+59G>A)
c.134G>A (p.Arg45Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6277580G>CCA356169690WFS1n.295G>C
c.125G>C (p.Arg42Pro)
c.115G>C
c.-18+7566G>C (n.-18+7566G>C)
c.66+59G>C (n.66+59G>C)
c.134G>C (p.Arg45Pro)
 dbSNP gnomAD v2 gnomAD v4
4g.6277580G=CA1435762559WFS1n.295G=
c.125G= (p.Arg42=)
c.115G=
c.-18+7566G= (n.-18+7566G=)
c.66+59G= (n.66+59G=)
c.134G= (p.Arg45=)
4g.6277580G>TCA356169691WFS1n.295G>T
c.125G>T (p.Arg42Leu)
c.115G>T
c.-18+7566G>T (n.-18+7566G>T)
c.66+59G>T (n.66+59G>T)
c.134G>T (p.Arg45Leu)
 ClinVar dbSNP gnomAD v4
4g.6277581A>CCA438210497WFS1n.296A>C
c.126A>C (p.Arg42=)
c.116A>C
c.-18+7567A>C (n.-18+7567A>C)
c.66+60A>C (n.66+60A>C)
c.135A>C (p.Arg45=)
4g.6277581A>GCA438210498WFS1n.296A>G
c.126A>G (p.Arg42=)
c.116A>G
c.-18+7567A>G (n.-18+7567A>G)
c.66+60A>G (n.66+60A>G)
c.135A>G (p.Arg45=)
4g.6277581A>TCA438210499WFS1n.296A>T
c.126A>T (p.Arg42=)
c.116A>T
c.-18+7567A>T (n.-18+7567A>T)
c.66+60A>T (n.66+60A>T)
c.135A>T (p.Arg45=)
4g.6277582G>ACA356169692WFS1n.297G>A
c.127G>A (p.Ala43Thr)
c.117G>A
c.-18+7568G>A (n.-18+7568G>A)
c.66+61G>A (n.66+61G>A)
c.136G>A (p.Ala46Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6277582G>CCA356169694WFS1n.297G>C
c.127G>C (p.Ala43Pro)
c.117G>C
c.-18+7568G>C (n.-18+7568G>C)
c.66+61G>C (n.66+61G>C)
c.136G>C (p.Ala46Pro)
4g.6277582G=CA1435762565WFS1n.297G=
c.127G= (p.Ala43=)
c.117G=
c.-18+7568G= (n.-18+7568G=)
c.66+61G= (n.66+61G=)
c.136G= (p.Ala46=)
4g.6277582G>TCA356169693WFS1n.297G>T
c.127G>T (p.Ala43Ser)
c.117G>T
c.-18+7568G>T (n.-18+7568G>T)
c.66+61G>T (n.66+61G>T)
c.136G>T (p.Ala46Ser)
 gnomAD v4
4g.6277583C>ACA356169695WFS1n.298C>A
c.128C>A (p.Ala43Glu)
c.118C>A
c.-18+7569C>A (n.-18+7569C>A)
c.66+62C>A (n.66+62C>A)
c.137C>A (p.Ala46Glu)
 gnomAD v4
4g.6277583C=CA1435762569WFS1n.298C=
c.128C= (p.Ala43=)
c.118C=
c.-18+7569C= (n.-18+7569C=)
c.66+62C= (n.66+62C=)
c.137C= (p.Ala46=)
4g.6277583C>GCA356169696WFS1n.298C>G
c.128C>G (p.Ala43Gly)
c.118C>G
c.-18+7569C>G (n.-18+7569C>G)
c.66+62C>G (n.66+62C>G)
c.137C>G (p.Ala46Gly)
4g.6277583C>TCA179627WFS1n.298C>T
c.128C>T (p.Ala43Val)
c.118C>T
c.-18+7569C>T (n.-18+7569C>T)
c.66+62C>T (n.66+62C>T)
c.137C>T (p.Ala46Val)
 ClinVar dbSNP gnomAD v4
4g.6277584A=CA1435762576WFS1n.299A=
c.129A= (p.Ala43=)
c.119A=
c.-18+7570A= (n.-18+7570A=)
c.67-64A= (n.67-64A=)
c.138A= (p.Ala46=)
4g.6277584A>CCA438210501WFS1n.299A>C
c.129A>C (p.Ala43=)
c.119A>C
c.-18+7570A>C (n.-18+7570A>C)
c.67-64A>C (n.67-64A>C)
c.138A>C (p.Ala46=)
4g.6277584A>GCA438210502WFS1n.299A>G
c.129A>G (p.Ala43=)
c.119A>G
c.-18+7570A>G (n.-18+7570A>G)
c.67-64A>G (n.67-64A>G)
c.138A>G (p.Ala46=)
4g.6277584A>TCA2838802WFS1n.299A>T
c.129A>T (p.Ala43=)
c.119A>T
c.-18+7570A>T (n.-18+7570A>T)
c.67-64A>T (n.67-64A>T)
c.138A>T (p.Ala46=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6277585C>ACA91787399WFS1n.300C>A
c.130C>A (p.Pro44Thr)
c.120C>A
c.-18+7571C>A (n.-18+7571C>A)
c.67-63C>A (n.67-63C>A)
c.139C>A (p.Pro47Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6277585C=CA1435762582WFS1n.300C=
c.130C= (p.Pro44=)
c.120C=
c.-18+7571C= (n.-18+7571C=)
c.67-63C= (n.67-63C=)
c.139C= (p.Pro47=)
4g.6277585C>GCA356169697WFS1n.300C>G
c.130C>G (p.Pro44Ala)
c.120C>G
c.-18+7571C>G (n.-18+7571C>G)
c.67-63C>G (n.67-63C>G)
c.139C>G (p.Pro47Ala)
4g.6277585C>TCA2838803WFS1n.300C>T
c.130C>T (p.Pro44Ser)
c.120C>T
c.-18+7571C>T (n.-18+7571C>T)
c.67-63C>T (n.67-63C>T)
c.139C>T (p.Pro47Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6277586C>ACA356169698WFS1n.301C>A
c.131C>A (p.Pro44His)
c.121C>A
c.-18+7572C>A (n.-18+7572C>A)
c.67-62C>A (n.67-62C>A)
c.140C>A (p.Pro47His)
 gnomAD v4
4g.6277586C>GCA356169699WFS1n.301C>G
c.131C>G (p.Pro44Arg)
c.121C>G
c.-18+7572C>G (n.-18+7572C>G)
c.67-62C>G (n.67-62C>G)
c.140C>G (p.Pro47Arg)
4g.6277586C>TCA356169700WFS1n.301C>T
c.131C>T (p.Pro44Leu)
c.121C>T
c.-18+7572C>T (n.-18+7572C>T)
c.67-62C>T (n.67-62C>T)
c.140C>T (p.Pro47Leu)
 gnomAD v4
4g.6277587C>ACA2838804WFS1n.302C>A
c.132C>A (p.Pro44=)
c.122C>A
c.-18+7573C>A (n.-18+7573C>A)
c.67-61C>A (n.67-61C>A)
c.141C>A (p.Pro47=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6277587C=CA1435762591WFS1n.302C=
c.132C= (p.Pro44=)
c.122C=
c.-18+7573C= (n.-18+7573C=)
c.67-61C= (n.67-61C=)
c.141C= (p.Pro47=)
4g.6277587C>GCA438210507WFS1n.302C>G
c.132C>G (p.Pro44=)
c.122C>G
c.-18+7573C>G (n.-18+7573C>G)
c.67-61C>G (n.67-61C>G)
c.141C>G (p.Pro47=)
4g.6277587C>TCA2838805WFS1n.302C>T
c.132C>T (p.Pro44=)
c.122C>T
c.-18+7573C>T (n.-18+7573C>T)
c.67-61C>T (n.67-61C>T)
c.141C>T (p.Pro47=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6277588G>ACA91787424WFS1n.303G>A
c.133G>A (p.Gly45Arg)
c.123G>A
c.-18+7574G>A (n.-18+7574G>A)
c.67-60G>A (n.67-60G>A)
c.142G>A (p.Gly48Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6277588G>CCA356169701WFS1n.303G>C
c.133G>C (p.Gly45Arg)
c.123G>C
c.-18+7574G>C (n.-18+7574G>C)
c.67-60G>C (n.67-60G>C)
c.142G>C (p.Gly48Arg)
4g.6277588G=CA1435762597WFS1n.303G=
c.133G= (p.Gly45=)
c.123G=
c.-18+7574G= (n.-18+7574G=)
c.67-60G= (n.67-60G=)
c.142G= (p.Gly48=)
4g.6277588G>TCA356169702WFS1n.303G>T
c.133G>T (p.Gly45Ter)
c.123G>T
c.-18+7574G>T (n.-18+7574G>T)
c.67-60G>T (n.67-60G>T)
c.142G>T (p.Gly48Ter)
 dbSNP gnomAD v2 gnomAD v4
4g.6277589delCA2669824657WFS1n.304del
c.134del (p.Gly45AspfsTer?)
c.124del
c.-18+7575del (n.-18+7575del)
c.67-59del (n.67-59del)
c.143del (p.Gly48AspfsTer?)
 gnomAD v4
4g.6277589G>ACA356169703WFS1n.304G>A
c.134G>A (p.Gly45Glu)
c.124G>A
c.-18+7575G>A (n.-18+7575G>A)
c.67-59G>A (n.67-59G>A)
c.143G>A (p.Gly48Glu)
 gnomAD v4
4g.6277589G>CCA356169704WFS1n.304G>C
c.134G>C (p.Gly45Ala)
c.124G>C
c.-18+7575G>C (n.-18+7575G>C)
c.67-59G>C (n.67-59G>C)
c.143G>C (p.Gly48Ala)
4g.6277589G=CA1435762599WFS1n.304G=
c.134G= (p.Gly45=)
c.124G=
c.-18+7575G= (n.-18+7575G=)
c.67-59G= (n.67-59G=)
c.143G= (p.Gly48=)
4g.6277589G>TCA91787425WFS1n.304G>T
c.134G>T (p.Gly45Val)
c.124G>T
c.-18+7575G>T (n.-18+7575G>T)
c.67-59G>T (n.67-59G>T)
c.143G>T (p.Gly48Val)
 dbSNP gnomAD v4
4g.6277590A>CCA438210510WFS1n.305A>C
c.135A>C (p.Gly45=)
c.125A>C
c.-18+7576A>C (n.-18+7576A>C)
c.67-58A>C (n.67-58A>C)
c.144A>C (p.Gly48=)
4g.6277590A>GCA438210509WFS1n.305A>G
c.135A>G (p.Gly45=)
c.125A>G
c.-18+7576A>G (n.-18+7576A>G)
c.67-58A>G (n.67-58A>G)
c.144A>G (p.Gly48=)
 gnomAD v4
4g.6277590A>TCA438210508WFS1n.305A>T
c.135A>T (p.Gly45=)
c.125A>T
c.-18+7576A>T (n.-18+7576A>T)
c.67-58A>T (n.67-58A>T)
c.144A>T (p.Gly48=)
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)

Number of alleles fetched