Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.20139556G>ACA410733887ZDHHC8c.305G>A (p.Arg102His)
c.272G>A (p.Arg91His)
n.58-1061G>A
22g.20139556G>CCA410733888ZDHHC8c.305G>C (p.Arg102Pro)
c.272G>C (p.Arg91Pro)
n.58-1061G>C
gnomAD v4
22g.20139556G>TCA410733889ZDHHC8c.305G>T (p.Arg102Leu)
c.272G>T (p.Arg91Leu)
n.58-1061G>T
22g.20139557C>ACA513691191ZDHHC8c.306C>A (p.Arg102=)
c.273C>A (p.Arg91=)
n.58-1060C>A
22g.20139557C=CA2396214157ZDHHC8c.306C= (p.Arg102=)
c.273C= (p.Arg91=)
n.58-1060C=
22g.20139557C>GCA513691192ZDHHC8c.306C>G (p.Arg102=)
c.273C>G (p.Arg91=)
n.58-1060C>G
dbSNP gnomAD v2 gnomAD v4
22g.20139557C>TCA513691193ZDHHC8c.306C>T (p.Arg102=)
c.273C>T (p.Arg91=)
n.58-1060C>T
dbSNP gnomAD v2 gnomAD v4
22g.20139558A>CCA410733890ZDHHC8c.307A>C (p.Met103Leu)
c.274A>C (p.Met92Leu)
n.58-1059A>C
22g.20139558A>GCA410733891ZDHHC8c.307A>G (p.Met103Val)
c.274A>G (p.Met92Val)
n.58-1059A>G
22g.20139558A>TCA410733892ZDHHC8c.307A>T (p.Met103Leu)
c.274A>T (p.Met92Leu)
n.58-1059A>T
22g.20139559T>ACA410733893ZDHHC8c.308T>A (p.Met103Lys)
c.275T>A (p.Met92Lys)
n.58-1058T>A
22g.20139559T>CCA410733894ZDHHC8c.308T>C (p.Met103Thr)
c.275T>C (p.Met92Thr)
n.58-1058T>C
22g.20139559T>GCA410733895ZDHHC8c.308T>G (p.Met103Arg)
c.275T>G (p.Met92Arg)
n.58-1058T>G
22g.20139560G>ACA410733896ZDHHC8c.309G>A (p.Met103Ile)
c.276G>A (p.Met92Ile)
n.58-1057G>A
22g.20139560G>CCA410733897ZDHHC8c.309G>C (p.Met103Ile)
c.276G>C (p.Met92Ile)
n.58-1057G>C
22g.20139560G>TCA410733898ZDHHC8c.309G>T (p.Met103Ile)
c.276G>T (p.Met92Ile)
n.58-1057G>T
22g.20139561A>CCA410733901ZDHHC8c.310A>C (p.Lys104Gln)
c.277A>C (p.Lys93Gln)
n.58-1056A>C
22g.20139561A>GCA410733900ZDHHC8c.310A>G (p.Lys104Glu)
c.277A>G (p.Lys93Glu)
n.58-1056A>G
22g.20139561A>TCA410733899ZDHHC8c.310A>T (p.Lys104Ter)
c.277A>T (p.Lys93Ter)
n.58-1056A>T
22g.20139562A>CCA410733902ZDHHC8c.311A>C (p.Lys104Thr)
c.278A>C (p.Lys93Thr)
n.58-1055A>C
22g.20139562A>GCA410733904ZDHHC8c.311A>G (p.Lys104Arg)
c.278A>G (p.Lys93Arg)
n.58-1055A>G
22g.20139562A>TCA410733903ZDHHC8c.311A>T (p.Lys104Met)
c.278A>T (p.Lys93Met)
n.58-1055A>T
22g.20139563G>ACA513691201ZDHHC8c.312G>A (p.Lys104=)
c.279G>A (p.Lys93=)
n.58-1054G>A
22g.20139563G>CCA410733905ZDHHC8c.312G>C (p.Lys104Asn)
c.279G>C (p.Lys93Asn)
n.58-1054G>C
22g.20139563G>TCA410733906ZDHHC8c.312G>T (p.Lys104Asn)
c.279G>T (p.Lys93Asn)
n.58-1054G>T
22g.20139564T>ACA410733907ZDHHC8c.313T>A (p.Trp105Arg)
c.280T>A (p.Trp94Arg)
n.58-1053T>A
22g.20139564T>CCA410733908ZDHHC8c.313T>C (p.Trp105Arg)
c.280T>C (p.Trp94Arg)
n.58-1053T>C
22g.20139564T>GCA410733909ZDHHC8c.313T>G (p.Trp105Gly)
c.280T>G (p.Trp94Gly)
n.58-1053T>G
22g.20139565G>ACA410733912ZDHHC8c.314G>A (p.Trp105Ter)
c.281G>A (p.Trp94Ter)
n.58-1052G>A
22g.20139565G>CCA410733911ZDHHC8c.314G>C (p.Trp105Ser)
c.281G>C (p.Trp94Ser)
n.58-1052G>C
22g.20139565G>TCA410733910ZDHHC8c.314G>T (p.Trp105Leu)
c.281G>T (p.Trp94Leu)
n.58-1052G>T
22g.20139566G>ACA410733913ZDHHC8c.315G>A (p.Trp105Ter)
c.282G>A (p.Trp94Ter)
n.58-1051G>A
22g.20139566G>CCA410733914ZDHHC8c.315G>C (p.Trp105Cys)
c.282G>C (p.Trp94Cys)
n.58-1051G>C
22g.20139566G>TCA410733915ZDHHC8c.315G>T (p.Trp105Cys)
c.282G>T (p.Trp94Cys)
n.58-1051G>T
22g.20139567T>ACA410733916ZDHHC8c.316T>A (p.Cys106Ser)
c.283T>A (p.Cys95Ser)
n.58-1050T>A
22g.20139567T>CCA410733917ZDHHC8c.316T>C (p.Cys106Arg)
c.283T>C (p.Cys95Arg)
n.58-1050T>C
COSMIC COSMIC
22g.20139567T>GCA410733918ZDHHC8c.316T>G (p.Cys106Gly)
c.283T>G (p.Cys95Gly)
n.58-1050T>G
22g.20139568G>ACA410733919ZDHHC8c.317G>A (p.Cys106Tyr)
c.284G>A (p.Cys95Tyr)
n.58-1049G>A
gnomAD v4
22g.20139568G>CCA410733921ZDHHC8c.317G>C (p.Cys106Ser)
c.284G>C (p.Cys95Ser)
n.58-1049G>C
22g.20139568G>TCA410733920ZDHHC8c.317G>T (p.Cys106Phe)
c.284G>T (p.Cys95Phe)
n.58-1049G>T
22g.20139569T>ACA410733922ZDHHC8c.318T>A (p.Cys106Ter)
c.285T>A (p.Cys95Ter)
n.58-1048T>A
22g.20139569T>CCA513691211ZDHHC8c.318T>C (p.Cys106=)
c.285T>C (p.Cys95=)
n.58-1048T>C
dbSNP
22g.20139569T>GCA410733923ZDHHC8c.318T>G (p.Cys106Trp)
c.285T>G (p.Cys95Trp)
n.58-1048T>G
22g.20139570G>ACA10108538ZDHHC8c.319G>A (p.Ala107Thr)
c.286G>A (p.Ala96Thr)
n.58-1047G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20139570G>CCA10108537ZDHHC8c.319G>C (p.Ala107Pro)
c.286G>C (p.Ala96Pro)
n.58-1047G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20139570G=CA2396214158ZDHHC8c.319G= (p.Ala107=)
c.286G= (p.Ala96=)
n.58-1047G=
22g.20139570G>TCA410733924ZDHHC8c.319G>T (p.Ala107Ser)
c.286G>T (p.Ala96Ser)
n.58-1047G>T
22g.20139571C>ACA410733925ZDHHC8c.320C>A (p.Ala107Asp)
c.287C>A (p.Ala96Asp)
n.58-1046C>A
22g.20139571C>GCA410733926ZDHHC8c.320C>G (p.Ala107Gly)
c.287C>G (p.Ala96Gly)
n.58-1046C>G
22g.20139571C>TCA410733927ZDHHC8c.320C>T (p.Ala107Val)
c.287C>T (p.Ala96Val)
n.58-1046C>T
22g.20139572C>ACA513691213ZDHHC8c.321C>A (p.Ala107=)
c.288C>A (p.Ala96=)
n.58-1045C>A
22g.20139572C=CA2396214159ZDHHC8c.321C= (p.Ala107=)
c.288C= (p.Ala96=)
n.58-1045C=
22g.20139572C>GCA513691214ZDHHC8c.321C>G (p.Ala107=)
c.288C>G (p.Ala96=)
n.58-1045C>G
22g.20139572C>TCA513691215ZDHHC8c.321C>T (p.Ala107=)
c.288C>T (p.Ala96=)
n.58-1045C>T
dbSNP gnomAD v2 gnomAD v4
22g.20139573A>CCA410733928ZDHHC8c.322A>C (p.Thr108Pro)
c.289A>C (p.Thr97Pro)
n.58-1044A>C
22g.20139573A>GCA410733929ZDHHC8c.322A>G (p.Thr108Ala)
c.289A>G (p.Thr97Ala)
n.58-1044A>G
22g.20139573A>TCA410733930ZDHHC8c.322A>T (p.Thr108Ser)
c.289A>T (p.Thr97Ser)
n.58-1044A>T
22g.20139574C>ACA322204486ZDHHC8c.323C>A (p.Thr108Lys)
c.290C>A (p.Thr97Lys)
n.58-1043C>A
dbSNP
22g.20139574C=CA2396214160ZDHHC8c.323C= (p.Thr108=)
c.290C= (p.Thr97=)
n.58-1043C=
22g.20139574C>GCA410733932ZDHHC8c.323C>G (p.Thr108Arg)
c.290C>G (p.Thr97Arg)
n.58-1043C>G
gnomAD v4
22g.20139574C>TCA410733931ZDHHC8c.323C>T (p.Thr108Met)
c.290C>T (p.Thr97Met)
n.58-1043C>T
gnomAD v4
22g.20139575G>ACA10108539ZDHHC8c.324G>A (p.Thr108=)
c.291G>A (p.Thr97=)
n.58-1042G>A
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20139575G>CCA513691222ZDHHC8c.324G>C (p.Thr108=)
c.291G>C (p.Thr97=)
n.58-1042G>C
22g.20139575G=CA2396214161ZDHHC8c.324G= (p.Thr108=)
c.291G= (p.Thr97=)
n.58-1042G=
22g.20139575G>TCA513691224ZDHHC8c.324G>T (p.Thr108=)
c.291G>T (p.Thr97=)
n.58-1042G>T
22g.20139576T>ACA410733933ZDHHC8c.325T>A (p.Cys109Ser)
c.292T>A (p.Cys98Ser)
n.58-1041T>A
22g.20139576T>CCA410733934ZDHHC8c.325T>C (p.Cys109Arg)
c.292T>C (p.Cys98Arg)
n.58-1041T>C
22g.20139576T>GCA410733935ZDHHC8c.325T>G (p.Cys109Gly)
c.292T>G (p.Cys98Gly)
n.58-1041T>G
22g.20139577G>ACA410733936ZDHHC8c.326G>A (p.Cys109Tyr)
c.293G>A (p.Cys98Tyr)
n.58-1040G>A
22g.20139577G>CCA410733937ZDHHC8c.326G>C (p.Cys109Ser)
c.293G>C (p.Cys98Ser)
n.58-1040G>C
22g.20139577G=CA2396214162ZDHHC8c.326G= (p.Cys109=)
c.293G= (p.Cys98=)
n.58-1040G=
22g.20139577G>TCA410733938ZDHHC8c.326G>T (p.Cys109Phe)
c.293G>T (p.Cys98Phe)
n.58-1040G>T
dbSNP gnomAD v2
22g.20139578C>ACA410733939ZDHHC8c.327C>A (p.Cys109Ter)
c.294C>A (p.Cys98Ter)
n.58-1039C>A
22g.20139578C=CA2396214163ZDHHC8c.327C= (p.Cys109=)
c.294C= (p.Cys98=)
n.58-1039C=
22g.20139578C>GCA410733940ZDHHC8c.327C>G (p.Cys109Trp)
c.294C>G (p.Cys98Trp)
n.58-1039C>G
22g.20139578C>TCA10108540ZDHHC8c.327C>T (p.Cys109=)
c.294C>T (p.Cys98=)
n.58-1039C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20139579C>ACA410733941ZDHHC8c.328C>A (p.His110Asn)
c.295C>A (p.His99Asn)
n.58-1038C>A
22g.20139579C>GCA410733942ZDHHC8c.328C>G (p.His110Asp)
c.295C>G (p.His99Asp)
n.58-1038C>G
22g.20139579C>TCA410733943ZDHHC8c.328C>T (p.His110Tyr)
c.295C>T (p.His99Tyr)
n.58-1038C>T
22g.20139580A=CA2396214164ZDHHC8c.329A= (p.His110=)
c.296A= (p.His99=)
n.58-1037A=
22g.20139580A>CCA410733944ZDHHC8c.329A>C (p.His110Pro)
c.296A>C (p.His99Pro)
n.58-1037A>C
22g.20139580A>GCA10108541ZDHHC8c.329A>G (p.His110Arg)
c.296A>G (p.His99Arg)
n.58-1037A>G
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20139580A>TCA410733945ZDHHC8c.329A>T (p.His110Leu)
c.296A>T (p.His99Leu)
n.58-1037A>T
22g.20139581C>ACA410733946ZDHHC8c.330C>A (p.His110Gln)
c.297C>A (p.His99Gln)
n.58-1036C>A
22g.20139581C=CA2396214165ZDHHC8c.330C= (p.His110=)
c.297C= (p.His99=)
n.58-1036C=
22g.20139581C>GCA410733947ZDHHC8c.330C>G (p.His110Gln)
c.297C>G (p.His99Gln)
n.58-1036C>G
22g.20139581C>TCA513691159ZDHHC8c.330C>T (p.His110=)
c.297C>T (p.His99=)
n.58-1036C>T
dbSNP gnomAD v2
22g.20139582T>ACA410733948ZDHHC8c.331T>A (p.Phe111Ile)
c.298T>A (p.Phe100Ile)
n.58-1035T>A
22g.20139582T>CCA410733949ZDHHC8c.331T>C (p.Phe111Leu)
c.298T>C (p.Phe100Leu)
n.58-1035T>C
22g.20139582T>GCA410733950ZDHHC8c.331T>G (p.Phe111Val)
c.298T>G (p.Phe100Val)
n.58-1035T>G
22g.20139583T>ACA410733951ZDHHC8c.332T>A (p.Phe111Tyr)
c.299T>A (p.Phe100Tyr)
n.58-1034T>A
22g.20139583T>CCA410733952ZDHHC8c.332T>C (p.Phe111Ser)
c.299T>C (p.Phe100Ser)
n.58-1034T>C
22g.20139583T>GCA410733953ZDHHC8c.332T>G (p.Phe111Cys)
c.299T>G (p.Phe100Cys)
n.58-1034T>G
22g.20139584C>ACA410733954ZDHHC8c.333C>A (p.Phe111Leu)
c.300C>A (p.Phe100Leu)
n.58-1033C>A
22g.20139584C>GCA410733955ZDHHC8c.333C>G (p.Phe111Leu)
c.300C>G (p.Phe100Leu)
n.58-1033C>G
22g.20139584C>TCA513691163ZDHHC8c.333C>T (p.Phe111=)
c.300C>T (p.Phe100=)
n.58-1033C>T
gnomAD v4
22g.20139585T>ACA410733957ZDHHC8c.334T>A (p.Tyr112Asn)
c.301T>A (p.Tyr101Asn)
n.58-1032T>A
22g.20139585T>CCA410733958ZDHHC8c.334T>C (p.Tyr112His)
c.301T>C (p.Tyr101His)
n.58-1032T>C
22g.20139585T>GCA410733956ZDHHC8c.334T>G (p.Tyr112Asp)
c.301T>G (p.Tyr101Asp)
n.58-1032T>G
22g.20139586A>CCA410733961ZDHHC8c.335A>C (p.Tyr112Ser)
c.302A>C (p.Tyr101Ser)
n.58-1031A>C
22g.20139586A>GCA410733959ZDHHC8c.335A>G (p.Tyr112Cys)
c.302A>G (p.Tyr101Cys)
n.58-1031A>G
gnomAD v3 gnomAD v4
22g.20139586A>TCA410733960ZDHHC8c.335A>T (p.Tyr112Phe)
c.302A>T (p.Tyr101Phe)
n.58-1031A>T
22g.20139587C>ACA410733962ZDHHC8c.336C>A (p.Tyr112Ter)
c.303C>A (p.Tyr101Ter)
n.58-1030C>A
22g.20139587C=CA2396214166ZDHHC8c.336C= (p.Tyr112=)
c.303C= (p.Tyr101=)
n.58-1030C=
22g.20139587C>GCA410733963ZDHHC8c.336C>G (p.Tyr112Ter)
c.303C>G (p.Tyr101Ter)
n.58-1030C>G
22g.20139587C>TCA10108542ZDHHC8c.336C>T (p.Tyr112=)
c.303C>T (p.Tyr101=)
n.58-1030C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20139588C>ACA410733964ZDHHC8c.337C>A (p.Arg113Ser)
c.304C>A (p.Arg102Ser)
n.58-1029C>A
22g.20139588C=CA2396214167ZDHHC8c.337C= (p.Arg113=)
c.304C= (p.Arg102=)
n.58-1029C=
22g.20139588C>GCA410733965ZDHHC8c.337C>G (p.Arg113Gly)
c.304C>G (p.Arg102Gly)
n.58-1029C>G
22g.20139588C>TCA410733966ZDHHC8c.337C>T (p.Arg113Cys)
c.304C>T (p.Arg102Cys)
n.58-1029C>T
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
22g.20139589G>ACA410733967ZDHHC8c.338G>A (p.Arg113His)
c.305G>A (p.Arg102His)
n.58-1028G>A
gnomAD v4 COSMIC COSMIC
22g.20139589G>CCA410733968ZDHHC8c.338G>C (p.Arg113Pro)
c.305G>C (p.Arg102Pro)
n.58-1028G>C
22g.20139589G>TCA410733969ZDHHC8c.338G>T (p.Arg113Leu)
c.305G>T (p.Arg102Leu)
n.58-1028G>T
22g.20139590C>ACA513691176ZDHHC8c.339C>A (p.Arg113=)
c.306C>A (p.Arg102=)
n.58-1027C>A
22g.20139590C=CA2396214168ZDHHC8c.339C= (p.Arg113=)
c.306C= (p.Arg102=)
n.58-1027C=
22g.20139590C>GCA513691177ZDHHC8c.339C>G (p.Arg113=)
c.306C>G (p.Arg102=)
n.58-1027C>G
22g.20139590C>TCA10108543ZDHHC8c.339C>T (p.Arg113=)
c.306C>T (p.Arg102=)
n.58-1027C>T
dbSNP ExAC gnomAD v2
22g.20139591C>ACA410733971ZDHHC8c.340C>A (p.Pro114Thr)
c.307C>A (p.Pro103Thr)
n.58-1026C>A
22g.20139591C>GCA410733972ZDHHC8c.340C>G (p.Pro114Ala)
c.307C>G (p.Pro103Ala)
n.58-1026C>G
22g.20139591C>TCA410733970ZDHHC8c.340C>T (p.Pro114Ser)
c.307C>T (p.Pro103Ser)
n.58-1026C>T
22g.20139592C>ACA410733973ZDHHC8c.341C>A (p.Pro114Gln)
c.308C>A (p.Pro103Gln)
n.58-1025C>A
22g.20139592C>GCA410733974ZDHHC8c.341C>G (p.Pro114Arg)
c.308C>G (p.Pro103Arg)
n.58-1025C>G
22g.20139592C>TCA410733975ZDHHC8c.341C>T (p.Pro114Leu)
c.308C>T (p.Pro103Leu)
n.58-1025C>T
gnomAD v4
22g.20139593G>ACA322204495ZDHHC8c.342G>A (p.Pro114=)
c.309G>A (p.Pro103=)
n.58-1024G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20139593G>CCA513691183ZDHHC8c.342G>C (p.Pro114=)
c.309G>C (p.Pro103=)
n.58-1024G>C
22g.20139593G=CA2396214169ZDHHC8c.342G= (p.Pro114=)
c.309G= (p.Pro103=)
n.58-1024G=
22g.20139593G>TCA513691182ZDHHC8c.342G>T (p.Pro114=)
c.309G>T (p.Pro103=)
n.58-1024G>T
dbSNP gnomAD v2 gnomAD v4
22g.20139594C>ACA410733976ZDHHC8c.343C>A (p.Pro115Thr)
c.310C>A (p.Pro104Thr)
n.58-1023C>A
22g.20139594C>GCA410733977ZDHHC8c.343C>G (p.Pro115Ala)
c.310C>G (p.Pro104Ala)
n.58-1023C>G
22g.20139594C>TCA410733978ZDHHC8c.343C>T (p.Pro115Ser)
c.310C>T (p.Pro104Ser)
n.58-1023C>T
22g.20139595C>ACA410733979ZDHHC8c.344C>A (p.Pro115Gln)
c.311C>A (p.Pro104Gln)
n.58-1022C>A
22g.20139595C>GCA410733981ZDHHC8c.344C>G (p.Pro115Arg)
c.311C>G (p.Pro104Arg)
n.58-1022C>G
22g.20139595C>TCA410733980ZDHHC8c.344C>T (p.Pro115Leu)
c.311C>T (p.Pro104Leu)
n.58-1022C>T
ClinVar gnomAD v4
22g.20139596G>ACA10108544ZDHHC8c.345G>A (p.Pro115=)
c.312G>A (p.Pro104=)
n.58-1021G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20139596G>CCA513691189ZDHHC8c.345G>C (p.Pro115=)
c.312G>C (p.Pro104=)
n.58-1021G>C
22g.20139596G=CA2396214170ZDHHC8c.345G= (p.Pro115=)
c.312G= (p.Pro104=)
n.58-1021G=
22g.20139596G>TCA513691190ZDHHC8c.345G>T (p.Pro115=)
c.312G>T (p.Pro104=)
n.58-1021G>T
dbSNP gnomAD v4
22g.20139597C>ACA410733982ZDHHC8c.346C>A (p.Arg116Ser)
c.313C>A (p.Arg105Ser)
n.58-1020C>A
22g.20139597C>GCA410733983ZDHHC8c.346C>G (p.Arg116Gly)
c.313C>G (p.Arg105Gly)
n.58-1020C>G
22g.20139597C>TCA410733984ZDHHC8c.346C>T (p.Arg116Cys)
c.313C>T (p.Arg105Cys)
n.58-1020C>T
gnomAD v4
22g.20139598G>ACA410733987ZDHHC8c.347G>A (p.Arg116His)
c.314G>A (p.Arg105His)
n.58-1019G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22g.20139598G>CCA410733986ZDHHC8c.347G>C (p.Arg116Pro)
c.314G>C (p.Arg105Pro)
n.58-1019G>C
22g.20139598G=CA2396214171ZDHHC8c.347G= (p.Arg116=)
c.314G= (p.Arg105=)
n.58-1019G=
22g.20139598G>TCA410733985ZDHHC8c.347G>T (p.Arg116Leu)
c.314G>T (p.Arg105Leu)
n.58-1019G>T
22g.20139599C>ACA513691197ZDHHC8c.348C>A (p.Arg116=)
c.315C>A (p.Arg105=)
n.58-1018C>A
22g.20139599C=CA2396214172ZDHHC8c.348C= (p.Arg116=)
c.315C= (p.Arg105=)
n.58-1018C=
22g.20139599C>GCA513691198ZDHHC8c.348C>G (p.Arg116=)
c.315C>G (p.Arg105=)
n.58-1018C>G
dbSNP gnomAD v2 gnomAD v4
22g.20139599C>TCA513691199ZDHHC8c.348C>T (p.Arg116=)
c.315C>T (p.Arg105=)
n.58-1018C>T
22g.20139600T>ACA410733988ZDHHC8c.349T>A (p.Cys117Ser)
c.316T>A (p.Cys106Ser)
n.58-1017T>A
dbSNP
22g.20139600T>CCA410733990ZDHHC8c.349T>C (p.Cys117Arg)
c.316T>C (p.Cys106Arg)
n.58-1017T>C
22g.20139600T>GCA410733989ZDHHC8c.349T>G (p.Cys117Gly)
c.316T>G (p.Cys106Gly)
n.58-1017T>G
22g.20139600T=CA2396214173ZDHHC8c.349T= (p.Cys117=)
c.316T= (p.Cys106=)
n.58-1017T=
22g.20139601G>ACA410733991ZDHHC8c.350G>A (p.Cys117Tyr)
c.317G>A (p.Cys106Tyr)
n.58-1016G>A
22g.20139601G>CCA410733992ZDHHC8c.350G>C (p.Cys117Ser)
c.317G>C (p.Cys106Ser)
n.58-1016G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20139601G=CA2396214174ZDHHC8c.350G= (p.Cys117=)
c.317G= (p.Cys106=)
n.58-1016G=
22g.20139601G>TCA410733993ZDHHC8c.350G>T (p.Cys117Phe)
c.317G>T (p.Cys106Phe)
n.58-1016G>T
gnomAD v4
22g.20139602C>ACA410733994ZDHHC8c.351C>A (p.Cys117Ter)
c.318C>A (p.Cys106Ter)
n.58-1015C>A
22g.20139602C=CA2396214175ZDHHC8c.351C= (p.Cys117=)
c.318C= (p.Cys106=)
n.58-1015C=
22g.20139602C>GCA410733995ZDHHC8c.351C>G (p.Cys117Trp)
c.318C>G (p.Cys106Trp)
n.58-1015C>G
22g.20139602C>TCA513691202ZDHHC8c.351C>T (p.Cys117=)
c.318C>T (p.Cys106=)
n.58-1015C>T
dbSNP gnomAD v2 gnomAD v4
22g.20139603T>ACA410733996ZDHHC8c.352T>A (p.Ser118Thr)
c.319T>A (p.Ser107Thr)
n.58-1014T>A
22g.20139603T>CCA410733997ZDHHC8c.352T>C (p.Ser118Pro)
c.319T>C (p.Ser107Pro)
n.58-1014T>C
22g.20139603T>GCA410733998ZDHHC8c.352T>G (p.Ser118Ala)
c.319T>G (p.Ser107Ala)
n.58-1014T>G
22g.20139604C>ACA410733999ZDHHC8c.353C>A (p.Ser118Tyr)
c.320C>A (p.Ser107Tyr)
n.58-1013C>A
22g.20139604C=CA2396214176ZDHHC8c.353C= (p.Ser118=)
c.320C= (p.Ser107=)
n.58-1013C=
22g.20139604C>GCA410734000ZDHHC8c.353C>G (p.Ser118Cys)
c.320C>G (p.Ser107Cys)
n.58-1013C>G
22g.20139604C>TCA322204498ZDHHC8c.353C>T (p.Ser118Phe)
c.320C>T (p.Ser107Phe)
n.58-1013C>T
dbSNP gnomAD v3 gnomAD v4
22g.20139605C>ACA513691206ZDHHC8c.354C>A (p.Ser118=)
c.321C>A (p.Ser107=)
n.58-1012C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20139605C=CA2396214177ZDHHC8c.354C= (p.Ser118=)
c.321C= (p.Ser107=)
n.58-1012C=
22g.20139605C>GCA513691207ZDHHC8c.354C>G (p.Ser118=)
c.321C>G (p.Ser107=)
n.58-1012C>G
22g.20139605C>TCA513691208ZDHHC8c.354C>T (p.Ser118=)
c.321C>T (p.Ser107=)
n.58-1012C>T
gnomAD v4
22g.20139606C>ACA410734003ZDHHC8c.355C>A (p.His119Asn)
c.322C>A (p.His108Asn)
n.58-1011C>A
22g.20139606C>GCA410734002ZDHHC8c.355C>G (p.His119Asp)
c.322C>G (p.His108Asp)
n.58-1011C>G
22g.20139606C>TCA410734001ZDHHC8c.355C>T (p.His119Tyr)
c.322C>T (p.His108Tyr)
n.58-1011C>T
COSMIC COSMIC
22g.20139607A>CCA410734004ZDHHC8c.356A>C (p.His119Pro)
c.323A>C (p.His108Pro)
n.58-1010A>C
22g.20139607A>GCA410734005ZDHHC8c.356A>G (p.His119Arg)
c.323A>G (p.His108Arg)
n.58-1010A>G
22g.20139607A>TCA410734006ZDHHC8c.356A>T (p.His119Leu)
c.323A>T (p.His108Leu)
n.58-1010A>T
22g.20139608C>ACA410734007ZDHHC8c.357C>A (p.His119Gln)
c.324C>A (p.His108Gln)
n.58-1009C>A
22g.20139608C=CA2396214178ZDHHC8c.357C= (p.His119=)
c.324C= (p.His108=)
n.58-1009C=
22g.20139608C>GCA410734008ZDHHC8c.357C>G (p.His119Gln)
c.324C>G (p.His108Gln)
n.58-1009C>G
22g.20139608C>TCA513691216ZDHHC8c.357C>T (p.His119=)
c.324C>T (p.His108=)
n.58-1009C>T
dbSNP gnomAD v4
22g.20139609T>ACA410734009ZDHHC8c.358T>A (p.Cys120Ser)
c.325T>A (p.Cys109Ser)
n.58-1008T>A
22g.20139609T>CCA410734010ZDHHC8c.358T>C (p.Cys120Arg)
c.325T>C (p.Cys109Arg)
n.58-1008T>C
22g.20139609T>GCA410734011ZDHHC8c.358T>G (p.Cys120Gly)
c.325T>G (p.Cys109Gly)
n.58-1008T>G
22g.20139610G>ACA410734012ZDHHC8c.359G>A (p.Cys120Tyr)
c.326G>A (p.Cys109Tyr)
n.58-1007G>A
22g.20139610G>CCA410734013ZDHHC8c.359G>C (p.Cys120Ser)
c.326G>C (p.Cys109Ser)
n.58-1007G>C
22g.20139610G>TCA410734014ZDHHC8c.359G>T (p.Cys120Phe)
c.326G>T (p.Cys109Phe)
n.58-1007G>T
22g.20139611C>ACA410734015ZDHHC8c.360C>A (p.Cys120Ter)
c.327C>A (p.Cys109Ter)
n.58-1006C>A
22g.20139611C=CA2396214179ZDHHC8c.360C= (p.Cys120=)
c.327C= (p.Cys109=)
n.58-1006C=
22g.20139611C>GCA410734016ZDHHC8c.360C>G (p.Cys120Trp)
c.327C>G (p.Cys109Trp)
n.58-1006C>G
22g.20139611C>TCA513691223ZDHHC8c.360C>T (p.Cys120=)
c.327C>T (p.Cys109=)
n.58-1006C>T
dbSNP gnomAD v2 gnomAD v4
22g.20139612A=CA2396214180ZDHHC8c.361A= (p.Ser121=)
c.328A= (p.Ser110=)
n.58-1005A=
22g.20139612A>CCA410734018ZDHHC8c.361A>C (p.Ser121Arg)
c.328A>C (p.Ser110Arg)
n.58-1005A>C
22g.20139612A>GCA410734019ZDHHC8c.361A>G (p.Ser121Gly)
c.328A>G (p.Ser110Gly)
n.58-1005A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20139612A>TCA410734017ZDHHC8c.361A>T (p.Ser121Cys)
c.328A>T (p.Ser110Cys)
n.58-1005A>T
22g.20139613G>ACA10108545ZDHHC8c.362G>A (p.Ser121Asn)
c.329G>A (p.Ser110Asn)
n.58-1004G>A
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20139613G>CCA410734021ZDHHC8c.362G>C (p.Ser121Thr)
c.329G>C (p.Ser110Thr)
n.58-1004G>C
22g.20139613G=CA2396214181ZDHHC8c.362G= (p.Ser121=)
c.329G= (p.Ser110=)
n.58-1004G=
22g.20139613G>TCA410734020ZDHHC8c.362G>T (p.Ser121Ile)
c.329G>T (p.Ser110Ile)
n.58-1004G>T
22g.20139614C>ACA410734022ZDHHC8c.363C>A (p.Ser121Arg)
c.330C>A (p.Ser110Arg)
n.58-1003C>A
22g.20139614C=CA2396214182ZDHHC8c.363C= (p.Ser121=)
c.330C= (p.Ser110=)
n.58-1003C=
22g.20139614C>GCA410734023ZDHHC8c.363C>G (p.Ser121Arg)
c.330C>G (p.Ser110Arg)
n.58-1003C>G
22g.20139614C>TCA10108546ZDHHC8c.363C>T (p.Ser121=)
c.330C>T (p.Ser110=)
n.58-1003C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20139615G>ACA410734024ZDHHC8c.364G>A (p.Val122Ile)
c.331G>A (p.Val111Ile)
n.58-1002G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20139615G>CCA410734026ZDHHC8c.364G>C (p.Val122Leu)
c.331G>C (p.Val111Leu)
n.58-1002G>C
22g.20139615G=CA2396214183ZDHHC8c.364G= (p.Val122=)
c.331G= (p.Val111=)
n.58-1002G=
22g.20139615G>TCA410734025ZDHHC8c.364G>T (p.Val122Phe)
c.331G>T (p.Val111Phe)
n.58-1002G>T
22g.20139616T>ACA410734027ZDHHC8c.365T>A (p.Val122Asp)
c.332T>A (p.Val111Asp)
n.58-1001T>A
22g.20139616T>CCA410734029ZDHHC8c.365T>C (p.Val122Ala)
c.332T>C (p.Val111Ala)
n.58-1001T>C
22g.20139616T>GCA410734028ZDHHC8c.365T>G (p.Val122Gly)
c.332T>G (p.Val111Gly)
n.58-1001T>G
22g.20139617C>ACA513691236ZDHHC8c.366C>A (p.Val122=)
c.333C>A (p.Val111=)
n.58-1000C>A
22g.20139617C>GCA513691237ZDHHC8c.366C>G (p.Val122=)
c.333C>G (p.Val111=)
n.58-1000C>G
22g.20139617C>TCA513691238ZDHHC8c.366C>T (p.Val122=)
c.333C>T (p.Val111=)
n.58-1000C>T
22g.20139618T>ACA410734030ZDHHC8c.367T>A (p.Cys123Ser)
c.334T>A (p.Cys112Ser)
n.58-999T>A
22g.20139618T>CCA410734032ZDHHC8c.367T>C (p.Cys123Arg)
c.334T>C (p.Cys112Arg)
n.58-999T>C
22g.20139618T>GCA410734031ZDHHC8c.367T>G (p.Cys123Gly)
c.334T>G (p.Cys112Gly)
n.58-999T>G
22g.20139619G>ACA410734033ZDHHC8c.368G>A (p.Cys123Tyr)
c.335G>A (p.Cys112Tyr)
n.58-998G>A
dbSNP gnomAD v2
22g.20139619G>CCA410734035ZDHHC8c.368G>C (p.Cys123Ser)
c.335G>C (p.Cys112Ser)
n.58-998G>C
22g.20139619G=CA2396214184ZDHHC8c.368G= (p.Cys123=)
c.335G= (p.Cys112=)
n.58-998G=
22g.20139619G>TCA410734034ZDHHC8c.368G>T (p.Cys123Phe)
c.335G>T (p.Cys112Phe)
n.58-998G>T
22g.20139620T>ACA410734036ZDHHC8c.369T>A (p.Cys123Ter)
c.336T>A (p.Cys112Ter)
n.58-997T>A
22g.20139620T>CCA513691244ZDHHC8c.369T>C (p.Cys123=)
c.336T>C (p.Cys112=)
n.58-997T>C
22g.20139620T>GCA410734037ZDHHC8c.369T>G (p.Cys123Trp)
c.336T>G (p.Cys112Trp)
n.58-997T>G
22g.20139621G>ACA10108547ZDHHC8c.370G>A (p.Asp124Asn)
c.337G>A (p.Asp113Asn)
n.58-996G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20139621G>CCA410734038ZDHHC8c.370G>C (p.Asp124His)
c.337G>C (p.Asp113His)
n.58-996G>C
22g.20139621G=CA2396214185ZDHHC8c.370G= (p.Asp124=)
c.337G= (p.Asp113=)
n.58-996G=
22g.20139621G>TCA410734039ZDHHC8c.370G>T (p.Asp124Tyr)
c.337G>T (p.Asp113Tyr)
n.58-996G>T
22g.20139622A>CCA410734040ZDHHC8c.371A>C (p.Asp124Ala)
c.338A>C (p.Asp113Ala)
n.58-995A>C
22g.20139622A>GCA410734041ZDHHC8c.371A>G (p.Asp124Gly)
c.338A>G (p.Asp113Gly)
n.58-995A>G
22g.20139622A>TCA410734042ZDHHC8c.371A>T (p.Asp124Val)
c.338A>T (p.Asp113Val)
n.58-995A>T
22g.20139623C>ACA410734043ZDHHC8c.372C>A (p.Asp124Glu)
c.339C>A (p.Asp113Glu)
n.58-994C>A
22g.20139623C>GCA410734044ZDHHC8c.372C>G (p.Asp124Glu)
c.339C>G (p.Asp113Glu)
n.58-994C>G
22g.20139623C>TCA513691252ZDHHC8c.372C>T (p.Asp124=)
c.339C>T (p.Asp113=)
n.58-994C>T
22g.20139624A>CCA410734047ZDHHC8c.373A>C (p.Asn125His)
c.340A>C (p.Asn114His)
n.58-993A>C
22g.20139624A>GCA410734046ZDHHC8c.373A>G (p.Asn125Asp)
c.340A>G (p.Asn114Asp)
n.58-993A>G
22g.20139624A>TCA410734045ZDHHC8c.373A>T (p.Asn125Tyr)
c.340A>T (p.Asn114Tyr)
n.58-993A>T
22g.20139625A=CA2396214186ZDHHC8c.374A= (p.Asn125=)
c.341A= (p.Asn114=)
n.58-992A=
22g.20139625A>CCA410734048ZDHHC8c.374A>C (p.Asn125Thr)
c.341A>C (p.Asn114Thr)
n.58-992A>C
22g.20139625A>GCA322204503ZDHHC8c.374A>G (p.Asn125Ser)
c.341A>G (p.Asn114Ser)
n.58-992A>G
dbSNP gnomAD v3 gnomAD v4
22g.20139625A>TCA410734049ZDHHC8c.374A>T (p.Asn125Ile)
c.341A>T (p.Asn114Ile)
n.58-992A>T
22g.20139626C>ACA410734050ZDHHC8c.375C>A (p.Asn125Lys)
c.342C>A (p.Asn114Lys)
n.58-991C>A
22g.20139626C>GCA410734051ZDHHC8c.375C>G (p.Asn125Lys)
c.342C>G (p.Asn114Lys)
n.58-991C>G
22g.20139626C>TCA513691256ZDHHC8c.375C>T (p.Asn125=)
c.342C>T (p.Asn114=)
n.58-991C>T
22g.20139627T>ACA410734052ZDHHC8c.376T>A (p.Cys126Ser)
c.343T>A (p.Cys115Ser)
n.58-990T>A
22g.20139627T>CCA410734053ZDHHC8c.376T>C (p.Cys126Arg)
c.343T>C (p.Cys115Arg)
n.58-990T>C
22g.20139627T>GCA410734054ZDHHC8c.376T>G (p.Cys126Gly)
c.343T>G (p.Cys115Gly)
n.58-990T>G
22g.20139628G>ACA410734055ZDHHC8c.377G>A (p.Cys126Tyr)
c.344G>A (p.Cys115Tyr)
n.58-989G>A
dbSNP gnomAD v2
22g.20139628G>CCA410734056ZDHHC8c.377G>C (p.Cys126Ser)
c.344G>C (p.Cys115Ser)
n.58-989G>C
22g.20139628G=CA2396214187ZDHHC8c.377G= (p.Cys126=)
c.344G= (p.Cys115=)
n.58-989G=
22g.20139628G>TCA410734057ZDHHC8c.377G>T (p.Cys126Phe)
c.344G>T (p.Cys115Phe)
n.58-989G>T
22g.20139629T>ACA410734059ZDHHC8c.378T>A (p.Cys126Ter)
c.345T>A (p.Cys115Ter)
n.58-988T>A
22g.20139629T>CCA513691262ZDHHC8c.378T>C (p.Cys126=)
c.345T>C (p.Cys115=)
n.58-988T>C
22g.20139629T>GCA410734058ZDHHC8c.378T>G (p.Cys126Trp)
c.345T>G (p.Cys115Trp)
n.58-988T>G
gnomAD v4
22g.20139630G>ACA10108548ZDHHC8c.379G>A (p.Val127Ile)
c.346G>A (p.Val116Ile)
n.58-987G>A
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20139630G>CCA410734060ZDHHC8c.379G>C (p.Val127Leu)
c.346G>C (p.Val116Leu)
n.58-987G>C
22g.20139630G=CA2396214188ZDHHC8c.379G= (p.Val127=)
c.346G= (p.Val116=)
n.58-987G=
22g.20139630G>TCA410734061ZDHHC8c.379G>T (p.Val127Leu)
c.346G>T (p.Val116Leu)
n.58-987G>T
22g.20139631T>ACA410734062ZDHHC8c.380T>A (p.Val127Glu)
c.347T>A (p.Val116Glu)
n.58-986T>A
22g.20139631T>CCA410734063ZDHHC8c.380T>C (p.Val127Ala)
c.347T>C (p.Val116Ala)
n.58-986T>C
22g.20139631T>GCA410734064ZDHHC8c.380T>G (p.Val127Gly)
c.347T>G (p.Val116Gly)
n.58-986T>G
22g.20139632A>CCA513691267ZDHHC8c.381A>C (p.Val127=)
c.348A>C (p.Val116=)
n.58-985A>C
22g.20139632A>GCA513691266ZDHHC8c.381A>G (p.Val127=)
c.348A>G (p.Val116=)
n.58-985A>G
22g.20139632A>TCA513691265ZDHHC8c.381A>T (p.Val127=)
c.348A>T (p.Val116=)
n.58-985A>T
22g.20139633G>ACA410734067ZDHHC8c.382G>A (p.Glu128Lys)
c.349G>A (p.Glu117Lys)
n.58-984G>A
22g.20139633G>CCA410734065ZDHHC8c.382G>C (p.Glu128Gln)
c.349G>C (p.Glu117Gln)
n.58-984G>C
22g.20139633G>TCA410734066ZDHHC8c.382G>T (p.Glu128Ter)
c.349G>T (p.Glu117Ter)
n.58-984G>T
22g.20139634A>CCA410734068ZDHHC8c.383A>C (p.Glu128Ala)
c.350A>C (p.Glu117Ala)
n.58-983A>C
22g.20139634A>GCA410734069ZDHHC8c.383A>G (p.Glu128Gly)
c.350A>G (p.Glu117Gly)
n.58-983A>G
22g.20139634A>TCA410734070ZDHHC8c.383A>T (p.Glu128Val)
c.350A>T (p.Glu117Val)
n.58-983A>T
22g.20139634_20139635insTCTCCA2503492969ZDHHC8c.383_384insTCTC (p.Glu128AspfsTer5)
c.383_384insTCTC (p.Glu128AspfsTer28)
c.350_351insTCTC (p.Glu117AspfsTer5)
n.58-983_58-982insTCTC
22g.20139635G>ACA513691270ZDHHC8c.384G>A (p.Glu128=)
c.351G>A (p.Glu117=)
n.58-982G>A
22g.20139635G>CCA410734071ZDHHC8c.384G>C (p.Glu128Asp)
c.351G>C (p.Glu117Asp)
n.58-982G>C
22g.20139635G>TCA410734072ZDHHC8c.384G>T (p.Glu128Asp)
c.351G>T (p.Glu117Asp)
n.58-982G>T
22g.20139636G>ACA410734073ZDHHC8c.384+1G>A (n.384+1G>A)
c.351+1G>A (n.351+1G>A)
n.58-981G>A
gnomAD v4
22g.20139636G>CCA410734075ZDHHC8c.384+1G>C (n.384+1G>C)
c.351+1G>C (n.351+1G>C)
n.58-981G>C
22g.20139636G>TCA410734074ZDHHC8c.384+1G>T (n.384+1G>T)
c.351+1G>T (n.351+1G>T)
n.58-981G>T
22g.20139637T>ACA410734076ZDHHC8c.384+2T>A (n.384+2T>A)
c.351+2T>A (n.351+2T>A)
n.58-980T>A
22g.20139637T>CCA410734077ZDHHC8c.384+2T>C (n.384+2T>C)
c.351+2T>C (n.351+2T>C)
n.58-980T>C
22g.20139637T>GCA410734078ZDHHC8c.384+2T>G (n.384+2T>G)
c.351+2T>G (n.351+2T>G)
n.58-980T>G
22g.20139638G>ACA322204506ZDHHC8c.384+3G>A (n.384+3G>A)
c.351+3G>A (n.351+3G>A)
n.58-979G>A
dbSNP gnomAD v2 gnomAD v4
22g.20139638G=CA2396214189ZDHHC8c.384+3G= (n.384+3G=)
c.351+3G= (n.351+3G=)
n.58-979G=
22g.20139639A>GCA2549184672ZDHHC8c.384+4A>G (n.384+4A>G)
c.351+4A>G (n.351+4A>G)
n.58-978A>G
22g.20139640C>TCA2519534379ZDHHC8c.384+5C>T (n.384+5C>T)
c.351+5C>T (n.351+5C>T)
n.58-977C>T
22g.20139641C=CA2396214190ZDHHC8c.384+6C= (n.384+6C=)
c.351+6C= (n.351+6C=)
n.58-976C=
22g.20139641C>TCA10108549ZDHHC8c.384+6C>T (n.384+6C>T)
c.351+6C>T (n.351+6C>T)
n.58-976C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20139642G>ACA10108550ZDHHC8c.384+7G>A (n.384+7G>A)
c.351+7G>A (n.351+7G>A)
n.58-975G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20139642G=CA2396214191ZDHHC8c.384+7G= (n.384+7G=)
c.351+7G= (n.351+7G=)
n.58-975G=
22g.20139642G>TCA10108551ZDHHC8c.384+7G>T (n.384+7G>T)
c.351+7G>T (n.351+7G>T)
n.58-975G>T
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20139643C=CA2396214192ZDHHC8c.384+8C= (n.384+8C=)
c.351+8C= (n.351+8C=)
n.58-974C=
22g.20139643C>TCA2396214193ZDHHC8c.384+8C>T (n.384+8C>T)
c.351+8C>T (n.351+8C>T)
n.58-974C>T
dbSNP
22g.20139645delCA2577650815ZDHHC8c.384+10del (n.384+10del)
c.351+10del (n.351+10del)
n.58-972del
22g.20139644C=CA2396214194ZDHHC8c.384+9C= (n.384+9C=)
c.351+9C= (n.351+9C=)
n.58-973C=
22g.20139644C>TCA751459517ZDHHC8c.384+9C>T (n.384+9C>T)
c.351+9C>T (n.351+9C>T)
n.58-973C>T
dbSNP gnomAD v3 gnomAD v4
22g.20139645_20139646delCA2532063207ZDHHC8c.384+10_384+11del (n.384+10_384+11del)
c.351+10_351+11del (n.351+10_351+11del)
n.58-972_58-971del
22g.20139647G>CCA657689696ZDHHC8c.384+12G>C (n.384+12G>C)
c.351+12G>C (n.351+12G>C)
n.58-970G>C
COSMIC
22g.20139648C=CA2396214195ZDHHC8c.384+13C= (n.384+13C=)
c.351+13C= (n.351+13C=)
n.58-969C=
22g.20139648C>GCA2737870764ZDHHC8c.384+13C>G (n.384+13C>G)
c.351+13C>G (n.351+13C>G)
n.58-969C>G
dbSNP
22g.20139648C>TCA638505175ZDHHC8c.384+13C>T (n.384+13C>T)
c.351+13C>T (n.351+13C>T)
n.58-969C>T
dbSNP gnomAD v2 gnomAD v4
22g.20139648_20139658delCA2567033621ZDHHC8c.384+13_384+23del (n.384+13_384+23del)
c.351+13_351+23del (n.351+13_351+23del)
n.58-969_58-959del
22g.20139650G>ACA2396214197ZDHHC8c.384+15G>A (n.384+15G>A)
c.351+15G>A (n.351+15G>A)
n.58-967G>A
dbSNP
22g.20139650G=CA2396214196ZDHHC8c.384+15G= (n.384+15G=)
c.351+15G= (n.351+15G=)
n.58-967G=
22g.20139654delCA2655368890ZDHHC8c.384+19del (n.384+19del)
c.351+19del (n.351+19del)
n.58-963del
gnomAD v4
22g.20139655_20139664dupCA2655368889ZDHHC8c.384+20_384+29dup (n.384+20_384+29dup)
c.351+20_351+29dup (n.351+20_351+29dup)
n.58-962_58-953dup
gnomAD v4
22g.20139652C>GCA2655368891ZDHHC8c.384+17C>G (n.384+17C>G)
c.351+17C>G (n.351+17C>G)
n.58-965C>G
gnomAD v4
22g.20139653C=CA2396214198ZDHHC8c.384+18C= (n.384+18C=)
c.351+18C= (n.351+18C=)
n.58-964C=
22g.20139653C>TCA322204512ZDHHC8c.384+18C>T (n.384+18C>T)
c.351+18C>T (n.351+18C>T)
n.58-964C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20139654C=CA2396214199ZDHHC8c.384+19C= (n.384+19C=)
c.351+19C= (n.351+19C=)
n.58-963C=
22g.20139654C>TCA10108552ZDHHC8c.384+19C>T (n.384+19C>T)
c.351+19C>T (n.351+19C>T)
n.58-963C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20139655G>ACA10108553ZDHHC8c.384+20G>A (n.384+20G>A)
c.351+20G>A (n.351+20G>A)
n.58-962G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20139655G=CA2396214200ZDHHC8c.384+20G= (n.384+20G=)
c.351+20G= (n.351+20G=)
n.58-962G=
22g.20139656C=CA2396214201ZDHHC8c.384+21C= (n.384+21C=)
c.351+21C= (n.351+21C=)
n.58-961C=
22g.20139656C>TCA10108554ZDHHC8c.384+21C>T (n.384+21C>T)
c.351+21C>T (n.351+21C>T)
n.58-961C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched