Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.40472194_40472213dupCA658653827CHST14c.981_1000dup (p.Glu334GlyfsTer?)
c.906_925dup (p.Glu309GlyfsTer?)
 ClinVar dbSNP
15g.40472207_40472219delCA2575679824CHST14c.994_1006del (p.Ser332CysfsTer?)
c.919_931del (p.Ser307CysfsTer?)
 gnomAD v4
15g.40472210C>ACA391768480CHST14c.997C>A (p.Pro333Thr)
c.922C>A (p.Pro308Thr)
 dbSNP
15g.40472210C=CA2171795441CHST14c.997C= (p.Pro333=)
c.922C= (p.Pro308=)
15g.40472210C>GCA391768482CHST14c.997C>G (p.Pro333Ala)
c.922C>G (p.Pro308Ala)
15g.40472210C>TCA391768493CHST14c.997C>T (p.Pro333Ser)
c.922C>T (p.Pro308Ser)
15g.40472211C>ACA391768496CHST14c.998C>A (p.Pro333His)
c.923C>A (p.Pro308His)
15g.40472211C>GCA391768498CHST14c.998C>G (p.Pro333Arg)
c.923C>G (p.Pro308Arg)
15g.40472211C>TCA391768501CHST14c.998C>T (p.Pro333Leu)
c.923C>T (p.Pro308Leu)
15g.40472212C>ACA489975376CHST14c.999C>A (p.Pro333=)
c.924C>A (p.Pro308=)
15g.40472212C=CA2171795442CHST14c.999C= (p.Pro333=)
c.924C= (p.Pro308=)
15g.40472212C>GCA7481683CHST14c.999C>G (p.Pro333=)
c.924C>G (p.Pro308=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.40472212C>TCA7481682CHST14c.999C>T (p.Pro333=)
c.924C>T (p.Pro308=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472213G>ACA391768511CHST14c.1000G>A (p.Glu334Lys)
c.925G>A (p.Glu309Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
15g.40472213G>CCA391768514CHST14c.1000G>C (p.Glu334Gln)
c.925G>C (p.Glu309Gln)
15g.40472213G=CA2171795443CHST14c.1000G= (p.Glu334=)
c.925G= (p.Glu309=)
15g.40472213G>TCA391768519CHST14c.1000G>T (p.Glu334Ter)
c.925G>T (p.Glu309Ter)
15g.40472214A>CCA391768520CHST14c.1001A>C (p.Glu334Ala)
c.926A>C (p.Glu309Ala)
15g.40472214A>GCA391768523CHST14c.1001A>G (p.Glu334Gly)
c.926A>G (p.Glu309Gly)
15g.40472214A>TCA391768521CHST14c.1001A>T (p.Glu334Val)
c.926A>T (p.Glu309Val)
15g.40472215A>CCA391768525CHST14c.1002A>C (p.Glu334Asp)
c.927A>C (p.Glu309Asp)
15g.40472215A>GCA489975378CHST14c.1002A>G (p.Glu334=)
c.927A>G (p.Glu309=)
15g.40472215A>TCA391768527CHST14c.1002A>T (p.Glu334Asp)
c.927A>T (p.Glu309Asp)
15g.40472216A>CCA391768532CHST14c.1003A>C (p.Ser335Arg)
c.928A>C (p.Ser310Arg)
15g.40472216A>GCA391768534CHST14c.1003A>G (p.Ser335Gly)
c.928A>G (p.Ser310Gly)
15g.40472216A>TCA391768539CHST14c.1003A>T (p.Ser335Cys)
c.928A>T (p.Ser310Cys)
15g.40472217G>ACA391768540CHST14c.1004G>A (p.Ser335Asn)
c.929G>A (p.Ser310Asn)
15g.40472217G>CCA391768541CHST14c.1004G>C (p.Ser335Thr)
c.929G>C (p.Ser310Thr)
15g.40472217G>TCA391768542CHST14c.1004G>T (p.Ser335Ile)
c.929G>T (p.Ser310Ile)
 ClinVar gnomAD v4
15g.40472218C>ACA391768543CHST14c.1005C>A (p.Ser335Arg)
c.930C>A (p.Ser310Arg)
15g.40472218C=CA2171795444CHST14c.1005C= (p.Ser335=)
c.930C= (p.Ser310=)
15g.40472218C>GCA391768544CHST14c.1005C>G (p.Ser335Arg)
c.930C>G (p.Ser310Arg)
15g.40472218C>TCA489975381CHST14c.1005C>T (p.Ser335=)
c.930C>T (p.Ser310=)
 dbSNP
15g.40472219C>ACA391768558CHST14c.1006C>A (p.Leu336Met)
c.931C>A (p.Leu311Met)
15g.40472219C>GCA391768547CHST14c.1006C>G (p.Leu336Val)
c.931C>G (p.Leu311Val)
15g.40472219C>TCA489975382CHST14c.1006C>T (p.Leu336=)
c.931C>T (p.Leu311=)
15g.40472220T>ACA391768565CHST14c.1007T>A (p.Leu336Gln)
c.932T>A (p.Leu311Gln)
15g.40472220T>CCA7481684CHST14c.1007T>C (p.Leu336Pro)
c.932T>C (p.Leu311Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472220T>GCA391768569CHST14c.1007T>G (p.Leu336Arg)
c.932T>G (p.Leu311Arg)
15g.40472220T=CA2171795445CHST14c.1007T= (p.Leu336=)
c.932T= (p.Leu311=)
15g.40472221G>ACA489975385CHST14c.1008G>A (p.Leu336=)
c.933G>A (p.Leu311=)
15g.40472221G>CCA489975386CHST14c.1008G>C (p.Leu336=)
c.933G>C (p.Leu311=)
15g.40472221G>TCA489975387CHST14c.1008G>T (p.Leu336=)
c.933G>T (p.Leu311=)
15g.40472222C>ACA391768573CHST14c.1009C>A (p.His337Asn)
c.934C>A (p.His312Asn)
15g.40472222C>GCA391768575CHST14c.1009C>G (p.His337Asp)
c.934C>G (p.His312Asp)
15g.40472222C>TCA391768574CHST14c.1009C>T (p.His337Tyr)
c.934C>T (p.His312Tyr)
15g.40472223A=CA2171795446CHST14c.1010A= (p.His337=)
c.935A= (p.His312=)
15g.40472223A>CCA391768576CHST14c.1010A>C (p.His337Pro)
c.935A>C (p.His312Pro)
15g.40472223A>GCA7481685CHST14c.1010A>G (p.His337Arg)
c.935A>G (p.His312Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472223A>TCA391768579CHST14c.1010A>T (p.His337Leu)
c.935A>T (p.His312Leu)
15g.40472224T>ACA391768582CHST14c.1011T>A (p.His337Gln)
c.936T>A (p.His312Gln)
15g.40472224T>CCA489975391CHST14c.1011T>C (p.His337=)
c.936T>C (p.His312=)
15g.40472224T>GCA391768586CHST14c.1011T>G (p.His337Gln)
c.936T>G (p.His312Gln)
15g.40472225T>ACA391768590CHST14c.1012T>A (p.Tyr338Asn)
c.937T>A (p.Tyr313Asn)
15g.40472225T>CCA391768593CHST14c.1012T>C (p.Tyr338His)
c.937T>C (p.Tyr313His)
15g.40472225T>GCA391768596CHST14c.1012T>G (p.Tyr338Asp)
c.937T>G (p.Tyr313Asp)
15g.40472226A>CCA391768599CHST14c.1013A>C (p.Tyr338Ser)
c.938A>C (p.Tyr313Ser)
15g.40472226A>GCA391768602CHST14c.1013A>G (p.Tyr338Cys)
c.938A>G (p.Tyr313Cys)
15g.40472226A>TCA391768605CHST14c.1013A>T (p.Tyr338Phe)
c.938A>T (p.Tyr313Phe)
15g.40472227C>ACA391768608CHST14c.1014C>A (p.Tyr338Ter)
c.939C>A (p.Tyr313Ter)
15g.40472227C=CA2171795447CHST14c.1014C= (p.Tyr338=)
c.939C= (p.Tyr313=)
15g.40472227C>GCA391768611CHST14c.1014C>G (p.Tyr338Ter)
c.939C>G (p.Tyr313Ter)
15g.40472227C>TCA489975395CHST14c.1014C>T (p.Tyr338=)
c.939C>T (p.Tyr313=)
 dbSNP gnomAD v2 gnomAD v4
15g.40472228C>ACA391768615CHST14c.1015C>A (p.His339Asn)
c.940C>A (p.His314Asn)
15g.40472228C>GCA391768617CHST14c.1015C>G (p.His339Asp)
c.940C>G (p.His314Asp)
15g.40472228C>TCA391768618CHST14c.1015C>T (p.His339Tyr)
c.940C>T (p.His314Tyr)
15g.40472229A=CA2171795448CHST14c.1016A= (p.His339=)
c.941A= (p.His314=)
15g.40472229A>CCA391768625CHST14c.1016A>C (p.His339Pro)
c.941A>C (p.His314Pro)
 dbSNP
15g.40472229A>GCA391768629CHST14c.1016A>G (p.His339Arg)
c.941A>G (p.His314Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.40472229A>TCA391768634CHST14c.1016A>T (p.His339Leu)
c.941A>T (p.His314Leu)
 dbSNP gnomAD v4
15g.40472230C>ACA391768637CHST14c.1017C>A (p.His339Gln)
c.942C>A (p.His314Gln)
 COSMIC
15g.40472230C>GCA391768639CHST14c.1017C>G (p.His339Gln)
c.942C>G (p.His314Gln)
15g.40472230C>TCA489975397CHST14c.1017C>T (p.His339=)
c.942C>T (p.His314=)
15g.40472231T>ACA391768643CHST14c.1018T>A (p.Leu340Met)
c.943T>A (p.Leu315Met)
15g.40472231T>CCA489975401CHST14c.1018T>C (p.Leu340=)
c.943T>C (p.Leu315=)
 gnomAD v4
15g.40472231T>GCA391768645CHST14c.1018T>G (p.Leu340Val)
c.943T>G (p.Leu315Val)
15g.40472232T>ACA391768650CHST14c.1019T>A (p.Leu340Ter)
c.944T>A (p.Leu315Ter)
15g.40472232T>CCA391768652CHST14c.1019T>C (p.Leu340Ser)
c.944T>C (p.Leu315Ser)
 ClinVar
15g.40472232T>GCA391768647CHST14c.1019T>G (p.Leu340Trp)
c.944T>G (p.Leu315Trp)
15g.40472233G>ACA489975402CHST14c.1020G>A (p.Leu340=)
c.945G>A (p.Leu315=)
15g.40472233G>CCA391768657CHST14c.1020G>C (p.Leu340Phe)
c.945G>C (p.Leu315Phe)
 gnomAD v4
15g.40472233G>TCA391768660CHST14c.1020G>T (p.Leu340Phe)
c.945G>T (p.Leu315Phe)
 gnomAD v4
15g.40472234T>ACA391768663CHST14c.1021T>A (p.Cys341Ser)
c.946T>A (p.Cys316Ser)
15g.40472234T>CCA391768664CHST14c.1021T>C (p.Cys341Arg)
c.946T>C (p.Cys316Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.40472234T>GCA391768667CHST14c.1021T>G (p.Cys341Gly)
c.946T>G (p.Cys316Gly)
15g.40472234T=CA2171795449CHST14c.1021T= (p.Cys341=)
c.946T= (p.Cys316=)
15g.40472235G>ACA391768673CHST14c.1022G>A (p.Cys341Tyr)
c.947G>A (p.Cys316Tyr)
15g.40472235G>CCA391768669CHST14c.1022G>C (p.Cys341Ser)
c.947G>C (p.Cys316Ser)
15g.40472235G>TCA391768671CHST14c.1022G>T (p.Cys341Phe)
c.947G>T (p.Cys316Phe)
15g.40472235dupCA489975406CHST14c.1022dup (p.Cys341TrpfsTer14)
c.947dup (p.Cys316TrpfsTer14)
15g.40472236C>ACA391768675CHST14c.1023C>A (p.Cys341Ter)
c.948C>A (p.Cys316Ter)
15g.40472236C>GCA391768678CHST14c.1023C>G (p.Cys341Trp)
c.948C>G (p.Cys316Trp)
15g.40472236C>TCA489975409CHST14c.1023C>T (p.Cys341=)
c.948C>T (p.Cys316=)
15g.40472237A=CA2171795450CHST14c.1024A= (p.Ser342=)
c.949A= (p.Ser317=)
15g.40472237A>CCA391768680CHST14c.1024A>C (p.Ser342Arg)
c.949A>C (p.Ser317Arg)
15g.40472237A>GCA7481686CHST14c.1024A>G (p.Ser342Gly)
c.949A>G (p.Ser317Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.40472237A>TCA391768684CHST14c.1024A>T (p.Ser342Cys)
c.949A>T (p.Ser317Cys)
15g.40472238G>ACA391768688CHST14c.1025G>A (p.Ser342Asn)
c.950G>A (p.Ser317Asn)
15g.40472238G>CCA391768696CHST14c.1025G>C (p.Ser342Thr)
c.950G>C (p.Ser317Thr)
15g.40472238G>TCA391768694CHST14c.1025G>T (p.Ser342Ile)
c.950G>T (p.Ser317Ile)
15g.40472239T>ACA391768697CHST14c.1026T>A (p.Ser342Arg)
c.951T>A (p.Ser317Arg)
15g.40472239T>CCA489975410CHST14c.1026T>C (p.Ser342=)
c.951T>C (p.Ser317=)
 dbSNP gnomAD v2 gnomAD v4
15g.40472239T>GCA391768698CHST14c.1026T>G (p.Ser342Arg)
c.951T>G (p.Ser317Arg)
15g.40472239T=CA2171795451CHST14c.1026T= (p.Ser342=)
c.951T= (p.Ser317=)
15g.40472240G>ACA391768700CHST14c.1027G>A (p.Ala343Thr)
c.952G>A (p.Ala318Thr)
 gnomAD v4
15g.40472240G>CCA391768701CHST14c.1027G>C (p.Ala343Pro)
c.952G>C (p.Ala318Pro)
15g.40472240G>TCA391768703CHST14c.1027G>T (p.Ala343Ser)
c.952G>T (p.Ala318Ser)
15g.40472240_40472241delinsGCCA2171795452CHST14c.1027_1028delinsGC (p.Ala343=)
c.952_953delinsGC (p.Ala318=)
15g.40472241C>ACA391768705CHST14c.1028C>A (p.Ala343Asp)
c.953C>A (p.Ala318Asp)
15g.40472241C=CA2171795454CHST14c.1028C= (p.Ala343=)
c.953C= (p.Ala318=)
15g.40472241C>GCA7481688CHST14c.1028C>G (p.Ala343Gly)
c.953C>G (p.Ala318Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.40472241C>TCA391768708CHST14c.1028C>T (p.Ala343Val)
c.953C>T (p.Ala318Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.40472246dupCA7481687CHST14c.1033dup (p.Arg345ProfsTer10)
c.958dup (p.Arg320ProfsTer10)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.40472246delCA2171795453CHST14c.1033del (p.Arg345GlyfsTer?)
c.958del (p.Arg320GlyfsTer?)
 ClinVar dbSNP gnomAD v4
15g.40472242C>ACA489975412CHST14c.1029C>A (p.Ala343=)
c.954C>A (p.Ala318=)
 gnomAD v4
15g.40472242C>GCA489975413CHST14c.1029C>G (p.Ala343=)
c.954C>G (p.Ala318=)
15g.40472242C>TCA489975414CHST14c.1029C>T (p.Ala343=)
c.954C>T (p.Ala318=)
 gnomAD v4
15g.40472243C>ACA391768710CHST14c.1030C>A (p.Pro344Thr)
c.955C>A (p.Pro319Thr)
15g.40472243C>GCA391768713CHST14c.1030C>G (p.Pro344Ala)
c.955C>G (p.Pro319Ala)
15g.40472243C>TCA391768715CHST14c.1030C>T (p.Pro344Ser)
c.955C>T (p.Pro319Ser)
 gnomAD v4
15g.40472244C>ACA391768719CHST14c.1031C>A (p.Pro344His)
c.956C>A (p.Pro319His)
15g.40472244C>GCA391768722CHST14c.1031C>G (p.Pro344Arg)
c.956C>G (p.Pro319Arg)
 gnomAD v4
15g.40472244C>TCA391768716CHST14c.1031C>T (p.Pro344Leu)
c.956C>T (p.Pro319Leu)
15g.40472245C>ACA489975420CHST14c.1032C>A (p.Pro344=)
c.957C>A (p.Pro319=)
15g.40472245C>GCA489975419CHST14c.1032C>G (p.Pro344=)
c.957C>G (p.Pro319=)
15g.40472245C>TCA489975418CHST14c.1032C>T (p.Pro344=)
c.957C>T (p.Pro319=)
15g.40472246C>ACA489975421CHST14c.1033C>A (p.Arg345=)
c.958C>A (p.Arg320=)
15g.40472246C=CA2171795455CHST14c.1033C= (p.Arg345=)
c.958C= (p.Arg320=)
15g.40472246C>GCA7481689CHST14c.1033C>G (p.Arg345Gly)
c.958C>G (p.Arg320Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472246C>TCA7481690CHST14c.1033C>T (p.Arg345Trp)
c.958C>T (p.Arg320Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472247G>ACA268823032CHST14c.1034G>A (p.Arg345Gln)
c.959G>A (p.Arg320Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.40472247G>CCA391768730CHST14c.1034G>C (p.Arg345Pro)
c.959G>C (p.Arg320Pro)
 dbSNP gnomAD v3 gnomAD v4
15g.40472247G=CA2171795456CHST14c.1034G= (p.Arg345=)
c.959G= (p.Arg320=)
15g.40472247G>TCA391768732CHST14c.1034G>T (p.Arg345Leu)
c.959G>T (p.Arg320Leu)
15g.40472249dupCA2627824992CHST14c.1036dup (p.Ala346GlyfsTer9)
c.961dup (p.Ala321GlyfsTer9)
 gnomAD v4
15g.40472248G>ACA489975425CHST14c.1035G>A (p.Arg345=)
c.960G>A (p.Arg320=)
 dbSNP
15g.40472248G>CCA489975426CHST14c.1035G>C (p.Arg345=)
c.960G>C (p.Arg320=)
15g.40472248G>TCA489975427CHST14c.1035G>T (p.Arg345=)
c.960G>T (p.Arg320=)
15g.40472249G>ACA391768733CHST14c.1036G>A (p.Ala346Thr)
c.961G>A (p.Ala321Thr)
 gnomAD v4
15g.40472249G>CCA7481691CHST14c.1036G>C (p.Ala346Pro)
c.961G>C (p.Ala321Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472249G=CA2171795457CHST14c.1036G= (p.Ala346=)
c.961G= (p.Ala321=)
15g.40472249G>TCA391768736CHST14c.1036G>T (p.Ala346Ser)
c.961G>T (p.Ala321Ser)
15g.40472250C>ACA391768739CHST14c.1037C>A (p.Ala346Asp)
c.962C>A (p.Ala321Asp)
15g.40472250C>GCA391768741CHST14c.1037C>G (p.Ala346Gly)
c.962C>G (p.Ala321Gly)
 gnomAD v4
15g.40472250C>TCA391768745CHST14c.1037C>T (p.Ala346Val)
c.962C>T (p.Ala321Val)
15g.40472251C>ACA268823035CHST14c.1038C>A (p.Ala346=)
c.963C>A (p.Ala321=)
 dbSNP
15g.40472251C=CA2171795458CHST14c.1038C= (p.Ala346=)
c.963C= (p.Ala321=)
15g.40472251C>GCA489975431CHST14c.1038C>G (p.Ala346=)
c.963C>G (p.Ala321=)
15g.40472251C>TCA489975429CHST14c.1038C>T (p.Ala346=)
c.963C>T (p.Ala321=)
 ClinVar
15g.40472252C>ACA391768747CHST14c.1039C>A (p.Leu347Met)
c.964C>A (p.Leu322Met)
15g.40472252C>GCA391768748CHST14c.1039C>G (p.Leu347Val)
c.964C>G (p.Leu322Val)
15g.40472252C>TCA489975434CHST14c.1039C>T (p.Leu347=)
c.964C>T (p.Leu322=)
15g.40472253T>ACA391768751CHST14c.1040T>A (p.Leu347Gln)
c.965T>A (p.Leu322Gln)
15g.40472253T>CCA391768753CHST14c.1040T>C (p.Leu347Pro)
c.965T>C (p.Leu322Pro)
 gnomAD v4
15g.40472253T>GCA391768749CHST14c.1040T>G (p.Leu347Arg)
c.965T>G (p.Leu322Arg)
15g.40472254G>ACA489975435CHST14c.1041G>A (p.Leu347=)
c.966G>A (p.Leu322=)
 gnomAD v4
15g.40472254G>CCA489975436CHST14c.1041G>C (p.Leu347=)
c.966G>C (p.Leu322=)
 gnomAD v4
15g.40472254G>TCA489975438CHST14c.1041G>T (p.Leu347=)
c.966G>T (p.Leu322=)
15g.40472255C>ACA391768755CHST14c.1042C>A (p.Leu348Met)
c.967C>A (p.Leu323Met)
15g.40472255C>GCA391768758CHST14c.1042C>G (p.Leu348Val)
c.967C>G (p.Leu323Val)
15g.40472255C>TCA489975439CHST14c.1042C>T (p.Leu348=)
c.967C>T (p.Leu323=)
15g.40472256T>ACA391768760CHST14c.1043T>A (p.Leu348Gln)
c.968T>A (p.Leu323Gln)
15g.40472256T>CCA391768763CHST14c.1043T>C (p.Leu348Pro)
c.968T>C (p.Leu323Pro)
15g.40472256T>GCA391768765CHST14c.1043T>G (p.Leu348Arg)
c.968T>G (p.Leu323Arg)
 gnomAD v4
15g.40472257G>ACA489975440CHST14c.1044G>A (p.Leu348=)
c.969G>A (p.Leu323=)
 dbSNP
15g.40472257G>CCA489975441CHST14c.1044G>C (p.Leu348=)
c.969G>C (p.Leu323=)
15g.40472257G>TCA489975443CHST14c.1044G>T (p.Leu348=)
c.969G>T (p.Leu323=)
15g.40472258C>ACA391768772CHST14c.1045C>A (p.Gln349Lys)
c.970C>A (p.Gln324Lys)
15g.40472258C>GCA391768767CHST14c.1045C>G (p.Gln349Glu)
c.970C>G (p.Gln324Glu)
15g.40472258C>TCA391768769CHST14c.1045C>T (p.Gln349Ter)
c.970C>T (p.Gln324Ter)
15g.40472259A=CA2171795459CHST14c.1046A= (p.Gln349=)
c.971A= (p.Gln324=)
15g.40472259A>CCA391768780CHST14c.1046A>C (p.Gln349Pro)
c.971A>C (p.Gln324Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.40472259A>GCA391768782CHST14c.1046A>G (p.Gln349Arg)
c.971A>G (p.Gln324Arg)
15g.40472259A>TCA391768783CHST14c.1046A>T (p.Gln349Leu)
c.971A>T (p.Gln324Leu)
 ClinVar gnomAD v4
15g.40472260G>ACA489975448CHST14c.1047G>A (p.Gln349=)
c.972G>A (p.Gln324=)
15g.40472260G>CCA7481692CHST14c.1047G>C (p.Gln349His)
c.972G>C (p.Gln324His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472260G=CA2171795460CHST14c.1047G= (p.Gln349=)
c.972G= (p.Gln324=)
15g.40472260G>TCA391768787CHST14c.1047G>T (p.Gln349His)
c.972G>T (p.Gln324His)
15g.40472261G>ACA391768793CHST14c.1048G>A (p.Asp350Asn)
c.973G>A (p.Asp325Asn)
15g.40472261G>CCA391768791CHST14c.1048G>C (p.Asp350His)
c.973G>C (p.Asp325His)
15g.40472261G>TCA391768789CHST14c.1048G>T (p.Asp350Tyr)
c.973G>T (p.Asp325Tyr)
 gnomAD v4
15g.40472262A>CCA391768795CHST14c.1049A>C (p.Asp350Ala)
c.974A>C (p.Asp325Ala)
15g.40472262A>GCA391768798CHST14c.1049A>G (p.Asp350Gly)
c.974A>G (p.Asp325Gly)
15g.40472262A>TCA391768801CHST14c.1049A>T (p.Asp350Val)
c.974A>T (p.Asp325Val)
15g.40472263T>ACA391768804CHST14c.1050T>A (p.Asp350Glu)
c.975T>A (p.Asp325Glu)
15g.40472263T>CCA489975452CHST14c.1050T>C (p.Asp350=)
c.975T>C (p.Asp325=)
15g.40472263T>GCA391768806CHST14c.1050T>G (p.Asp350Glu)
c.975T>G (p.Asp325Glu)
15g.40472264G>ACA391768815CHST14c.1051G>A (p.Val351Met)
c.976G>A (p.Val326Met)
 gnomAD v4
15g.40472264G>CCA391768812CHST14c.1051G>C (p.Val351Leu)
c.976G>C (p.Val326Leu)
15g.40472264G>TCA391768810CHST14c.1051G>T (p.Val351Leu)
c.976G>T (p.Val326Leu)
15g.40472265T>ACA391768818CHST14c.1052T>A (p.Val351Glu)
c.977T>A (p.Val326Glu)
15g.40472265T>CCA391768819CHST14c.1052T>C (p.Val351Ala)
c.977T>C (p.Val326Ala)
15g.40472265T>GCA391768822CHST14c.1052T>G (p.Val351Gly)
c.977T>G (p.Val326Gly)
15g.40472266G>ACA7481693CHST14c.1053G>A (p.Val351=)
c.978G>A (p.Val326=)
 ClinVar dbSNP ExAC gnomAD v2
15g.40472266G>CCA489975455CHST14c.1053G>C (p.Val351=)
c.978G>C (p.Val326=)
15g.40472266G=CA2171795461CHST14c.1053G= (p.Val351=)
c.978G= (p.Val326=)
15g.40472266G>TCA489975456CHST14c.1053G>T (p.Val351=)
c.978G>T (p.Val326=)
15g.40472267C>ACA391768826CHST14c.1054C>A (p.Leu352Met)
c.979C>A (p.Leu327Met)
15g.40472267C>GCA391768829CHST14c.1054C>G (p.Leu352Val)
c.979C>G (p.Leu327Val)
15g.40472267C>TCA489975459CHST14c.1054C>T (p.Leu352=)
c.979C>T (p.Leu327=)
15g.40472268T>ACA391768831CHST14c.1055T>A (p.Leu352Gln)
c.980T>A (p.Leu327Gln)
15g.40472268T>CCA391768834CHST14c.1055T>C (p.Leu352Pro)
c.980T>C (p.Leu327Pro)
15g.40472268T>GCA391768833CHST14c.1055T>G (p.Leu352Arg)
c.980T>G (p.Leu327Arg)
15g.40472269G>ACA489975460CHST14c.1056G>A (p.Leu352=)
c.981G>A (p.Leu327=)
 gnomAD v4
15g.40472269G>CCA489975461CHST14c.1056G>C (p.Leu352=)
c.981G>C (p.Leu327=)
 gnomAD v4
15g.40472269G>TCA489975462CHST14c.1056G>T (p.Leu352=)
c.981G>T (p.Leu327=)
15g.40472270C>ACA391768836CHST14c.1057C>A (p.Pro353Thr)
c.982C>A (p.Pro328Thr)
15g.40472270C>GCA391768837CHST14c.1057C>G (p.Pro353Ala)
c.982C>G (p.Pro328Ala)
 gnomAD v4
15g.40472270C>TCA391768839CHST14c.1057C>T (p.Pro353Ser)
c.982C>T (p.Pro328Ser)
15g.40472271C>ACA391768840CHST14c.1058C>A (p.Pro353His)
c.983C>A (p.Pro328His)
15g.40472271C>GCA391768842CHST14c.1058C>G (p.Pro353Arg)
c.983C>G (p.Pro328Arg)
15g.40472271C>TCA391768845CHST14c.1058C>T (p.Pro353Leu)
c.983C>T (p.Pro328Leu)
 gnomAD v4
15g.40472272T>ACA489975468CHST14c.1059T>A (p.Pro353=)
c.984T>A (p.Pro328=)
 gnomAD v4
15g.40472272T>CCA489975469CHST14c.1059T>C (p.Pro353=)
c.984T>C (p.Pro328=)
15g.40472272T>GCA489975467CHST14c.1059T>G (p.Pro353=)
c.984T>G (p.Pro328=)
15g.40472273A>CCA391768847CHST14c.1060A>C (p.Lys354Gln)
c.985A>C (p.Lys329Gln)
15g.40472273A>GCA391768849CHST14c.1060A>G (p.Lys354Glu)
c.985A>G (p.Lys329Glu)
15g.40472273A>TCA391768851CHST14c.1060A>T (p.Lys354Ter)
c.985A>T (p.Lys329Ter)
15g.40472274A>CCA391768854CHST14c.1061A>C (p.Lys354Thr)
c.986A>C (p.Lys329Thr)
15g.40472274A>GCA391768856CHST14c.1061A>G (p.Lys354Arg)
c.986A>G (p.Lys329Arg)
15g.40472274A>TCA391768858CHST14c.1061A>T (p.Lys354Met)
c.986A>T (p.Lys329Met)
15g.40472275G>ACA489975473CHST14c.1062G>A (p.Lys354=)
c.987G>A (p.Lys329=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.40472275G>CCA391768865CHST14c.1062G>C (p.Lys354Asn)
c.987G>C (p.Lys329Asn)
15g.40472275G=CA2171795462CHST14c.1062G= (p.Lys354=)
c.987G= (p.Lys329=)
15g.40472275G>TCA391768866CHST14c.1062G>T (p.Lys354Asn)
c.987G>T (p.Lys329Asn)
15g.40472276T>ACA391768870CHST14c.1063T>A (p.Tyr355Asn)
c.988T>A (p.Tyr330Asn)
15g.40472276T>CCA391768874CHST14c.1063T>C (p.Tyr355His)
c.988T>C (p.Tyr330His)
 COSMIC
15g.40472276T>GCA391768871CHST14c.1063T>G (p.Tyr355Asp)
c.988T>G (p.Tyr330Asp)
15g.40472277A>CCA391768877CHST14c.1064A>C (p.Tyr355Ser)
c.989A>C (p.Tyr330Ser)
15g.40472277A>GCA391768882CHST14c.1064A>G (p.Tyr355Cys)
c.989A>G (p.Tyr330Cys)
15g.40472277A>TCA391768879CHST14c.1064A>T (p.Tyr355Phe)
c.989A>T (p.Tyr330Phe)
15g.40472278T>ACA391768884CHST14c.1065T>A (p.Tyr355Ter)
c.990T>A (p.Tyr330Ter)
15g.40472278T>CCA268823036CHST14c.1065T>C (p.Tyr355=)
c.990T>C (p.Tyr330=)
 dbSNP gnomAD v4
15g.40472278T>GCA391768885CHST14c.1065T>G (p.Tyr355Ter)
c.990T>G (p.Tyr330Ter)
15g.40472278T=CA2171795463CHST14c.1065T= (p.Tyr355=)
c.990T= (p.Tyr330=)
15g.40472279A>CCA391768888CHST14c.1066A>C (p.Ile356Leu)
c.991A>C (p.Ile331Leu)
15g.40472279A>GCA391768891CHST14c.1066A>G (p.Ile356Val)
c.991A>G (p.Ile331Val)
15g.40472279A>TCA391768893CHST14c.1066A>T (p.Ile356Phe)
c.991A>T (p.Ile331Phe)
15g.40472280T>ACA391768896CHST14c.1067T>A (p.Ile356Asn)
c.992T>A (p.Ile331Asn)
15g.40472280T>CCA7481694CHST14c.1067T>C (p.Ile356Thr)
c.992T>C (p.Ile331Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40472280T>GCA391768900CHST14c.1067T>G (p.Ile356Ser)
c.992T>G (p.Ile331Ser)
15g.40472280T=CA2171795464CHST14c.1067T= (p.Ile356=)
c.992T= (p.Ile331=)
15g.40472281C>ACA489975475CHST14c.1068C>A (p.Ile356=)
c.993C>A (p.Ile331=)
15g.40472281C>GCA391768901CHST14c.1068C>G (p.Ile356Met)
c.993C>G (p.Ile331Met)
15g.40472281C>TCA489975476CHST14c.1068C>T (p.Ile356=)
c.993C>T (p.Ile331=)
 COSMIC
15g.40472282C>ACA391768905CHST14c.1069C>A (p.Leu357Met)
c.994C>A (p.Leu332Met)
 gnomAD v4
15g.40472282C>GCA391768906CHST14c.1069C>G (p.Leu357Val)
c.994C>G (p.Leu332Val)
15g.40472282C>TCA489975477CHST14c.1069C>T (p.Leu357=)
c.994C>T (p.Leu332=)
15g.40472283T>ACA391768912CHST14c.1070T>A (p.Leu357Gln)
c.995T>A (p.Leu332Gln)
 ClinVar
15g.40472283T>CCA391768908CHST14c.1070T>C (p.Leu357Pro)
c.995T>C (p.Leu332Pro)
15g.40472283T>GCA7481695CHST14c.1070T>G (p.Leu357Arg)
c.995T>G (p.Leu332Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.40472283T=CA2171795465CHST14c.1070T= (p.Leu357=)
c.995T= (p.Leu332=)
15g.40472284G>ACA489975481CHST14c.1071G>A (p.Leu357=)
c.996G>A (p.Leu332=)
15g.40472284G>CCA489975482CHST14c.1071G>C (p.Leu357=)
c.996G>C (p.Leu332=)
15g.40472284G>TCA489975483CHST14c.1071G>T (p.Leu357=)
c.996G>T (p.Leu332=)
15g.40472285G>ACA391768915CHST14c.1072G>A (p.Asp358Asn)
c.997G>A (p.Asp333Asn)
15g.40472285G>CCA7481696CHST14c.1072G>C (p.Asp358His)
c.997G>C (p.Asp333His)
 dbSNP ExAC gnomAD v2
15g.40472285G=CA2171795466CHST14c.1072G= (p.Asp358=)
c.997G= (p.Asp333=)
15g.40472285G>TCA391768918CHST14c.1072G>T (p.Asp358Tyr)
c.997G>T (p.Asp333Tyr)
15g.40472286A>CCA391768920CHST14c.1073A>C (p.Asp358Ala)
c.998A>C (p.Asp333Ala)
15g.40472286A>GCA391768922CHST14c.1073A>G (p.Asp358Gly)
c.998A>G (p.Asp333Gly)
15g.40472286A>TCA391768925CHST14c.1073A>T (p.Asp358Val)
c.998A>T (p.Asp333Val)
15g.40472287C>ACA391768928CHST14c.1074C>A (p.Asp358Glu)
c.999C>A (p.Asp333Glu)
 gnomAD v4
15g.40472287C>GCA391768929CHST14c.1074C>G (p.Asp358Glu)
c.999C>G (p.Asp333Glu)
15g.40472287C>TCA489975485CHST14c.1074C>T (p.Asp358=)
c.999C>T (p.Asp333=)
 gnomAD v4
15g.40472288T>ACA391768931CHST14c.1075T>A (p.Phe359Ile)
c.1000T>A (p.Phe334Ile)
15g.40472288T>CCA391768932CHST14c.1075T>C (p.Phe359Leu)
c.1000T>C (p.Phe334Leu)
15g.40472288T>GCA391768934CHST14c.1075T>G (p.Phe359Val)
c.1000T>G (p.Phe334Val)
15g.40472289T>ACA391768941CHST14c.1076T>A (p.Phe359Tyr)
c.1001T>A (p.Phe334Tyr)
15g.40472289T>CCA391768939CHST14c.1076T>C (p.Phe359Ser)
c.1001T>C (p.Phe334Ser)
 COSMIC
15g.40472289T>GCA391768937CHST14c.1076T>G (p.Phe359Cys)
c.1001T>G (p.Phe334Cys)
15g.40472290C>ACA391768945CHST14c.1077C>A (p.Phe359Leu)
c.1002C>A (p.Phe334Leu)
15g.40472290C>GCA391768943CHST14c.1077C>G (p.Phe359Leu)
c.1002C>G (p.Phe334Leu)
15g.40472290C>TCA489975487CHST14c.1077C>T (p.Phe359=)
c.1002C>T (p.Phe334=)
15g.40472291T>ACA391768948CHST14c.1078T>A (p.Ser360Thr)
c.1003T>A (p.Ser335Thr)
15g.40472291T>CCA391768950CHST14c.1078T>C (p.Ser360Pro)
c.1003T>C (p.Ser335Pro)
15g.40472291T>GCA391768952CHST14c.1078T>G (p.Ser360Ala)
c.1003T>G (p.Ser335Ala)
15g.40472292C>ACA391768953CHST14c.1079C>A (p.Ser360Tyr)
c.1004C>A (p.Ser335Tyr)
15g.40472292C=CA2171795467CHST14c.1079C= (p.Ser360=)
c.1004C= (p.Ser335=)
15g.40472292C>GCA391768955CHST14c.1079C>G (p.Ser360Cys)
c.1004C>G (p.Ser335Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.40472292C>TCA391768956CHST14c.1079C>T (p.Ser360Phe)
c.1004C>T (p.Ser335Phe)
 dbSNP
15g.40472293C>ACA489975490CHST14c.1080C>A (p.Ser360=)
c.1005C>A (p.Ser335=)
15g.40472293C=CA2171795468CHST14c.1080C= (p.Ser360=)
c.1005C= (p.Ser335=)
15g.40472293C>GCA489975491CHST14c.1080C>G (p.Ser360=)
c.1005C>G (p.Ser335=)
15g.40472293C>TCA489975489CHST14c.1080C>T (p.Ser360=)
c.1005C>T (p.Ser335=)
 dbSNP gnomAD v2 gnomAD v4
15g.40472294C>ACA391768958CHST14c.1081C>A (p.Leu361Ile)
c.1006C>A (p.Leu336Ile)
15g.40472294C=CA2171795469CHST14c.1081C= (p.Leu361=)
c.1006C= (p.Leu336=)
15g.40472294C>GCA391768960CHST14c.1081C>G (p.Leu361Val)
c.1006C>G (p.Leu336Val)
 ClinVar dbSNP gnomAD v4
15g.40472294C>TCA391768959CHST14c.1081C>T (p.Leu361Phe)
c.1006C>T (p.Leu336Phe)
15g.40472295T>ACA391768963CHST14c.1082T>A (p.Leu361His)
c.1007T>A (p.Leu336His)
15g.40472295T>CCA391768964CHST14c.1082T>C (p.Leu361Pro)
c.1007T>C (p.Leu336Pro)
15g.40472295T>GCA391768965CHST14c.1082T>G (p.Leu361Arg)
c.1007T>G (p.Leu336Arg)
 gnomAD v4
15g.40472296C>ACA489975492CHST14c.1083C>A (p.Leu361=)
c.1008C>A (p.Leu336=)
 gnomAD v4
15g.40472296C=CA2171795470CHST14c.1083C= (p.Leu361=)
c.1008C= (p.Leu336=)
15g.40472296C>GCA489975493CHST14c.1083C>G (p.Leu361=)
c.1008C>G (p.Leu336=)
 gnomAD v4
15g.40472296C>TCA7481697CHST14c.1083C>T (p.Leu361=)
c.1008C>T (p.Leu336=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.40472297T>ACA391768966CHST14c.1084T>A (p.Phe362Ile)
c.1009T>A (p.Phe337Ile)
15g.40472297T>CCA391768969CHST14c.1084T>C (p.Phe362Leu)
c.1009T>C (p.Phe337Leu)
15g.40472297T>GCA391768968CHST14c.1084T>G (p.Phe362Val)
c.1009T>G (p.Phe337Val)
15g.40472299delCA2627824993CHST14c.1086del (p.Phe362LeufsTer?)
c.1011del (p.Phe337LeufsTer?)
 gnomAD v4
15g.40472298T>ACA391768971CHST14c.1085T>A (p.Phe362Tyr)
c.1010T>A (p.Phe337Tyr)
15g.40472298T>CCA391768972CHST14c.1085T>C (p.Phe362Ser)
c.1010T>C (p.Phe337Ser)
15g.40472298T>GCA391768974CHST14c.1085T>G (p.Phe362Cys)
c.1010T>G (p.Phe337Cys)
15g.40472299T>ACA391768976CHST14c.1086T>A (p.Phe362Leu)
c.1011T>A (p.Phe337Leu)
15g.40472299T>CCA489975495CHST14c.1086T>C (p.Phe362=)
c.1011T>C (p.Phe337=)
 ClinVar dbSNP gnomAD v4
15g.40472299T>GCA391768977CHST14c.1086T>G (p.Phe362Leu)
c.1011T>G (p.Phe337Leu)
15g.40472300G>ACA391768979CHST14c.1087G>A (p.Ala363Thr)
c.1012G>A (p.Ala338Thr)
 dbSNP gnomAD v2
15g.40472300G>CCA391768981CHST14c.1087G>C (p.Ala363Pro)
c.1012G>C (p.Ala338Pro)
15g.40472300G=CA2171795471CHST14c.1087G= (p.Ala363=)
c.1012G= (p.Ala338=)
15g.40472300G>TCA391768982CHST14c.1087G>T (p.Ala363Ser)
c.1012G>T (p.Ala338Ser)
15g.40472301C>ACA391768984CHST14c.1088C>A (p.Ala363Asp)
c.1013C>A (p.Ala338Asp)
 gnomAD v4
15g.40472301C>GCA391768985CHST14c.1088C>G (p.Ala363Gly)
c.1013C>G (p.Ala338Gly)
15g.40472301C>TCA391768986CHST14c.1088C>T (p.Ala363Val)
c.1013C>T (p.Ala338Val)
 gnomAD v4
15g.40472302C>ACA489975496CHST14c.1089C>A (p.Ala363=)
c.1014C>A (p.Ala338=)
 gnomAD v4
15g.40472302C>GCA489975497CHST14c.1089C>G (p.Ala363=)
c.1014C>G (p.Ala338=)
15g.40472302C>TCA489975498CHST14c.1089C>T (p.Ala363=)
c.1014C>T (p.Ala338=)
15g.40472303T>ACA391768989CHST14c.1090T>A (p.Tyr364Asn)
c.1015T>A (p.Tyr339Asn)
15g.40472303T>CCA391768991CHST14c.1090T>C (p.Tyr364His)
c.1015T>C (p.Tyr339His)
15g.40472303T>GCA391768987CHST14c.1090T>G (p.Tyr364Asp)
c.1015T>G (p.Tyr339Asp)
15g.40472304A>CCA391768993CHST14c.1091A>C (p.Tyr364Ser)
c.1016A>C (p.Tyr339Ser)
15g.40472304A>GCA391768997CHST14c.1091A>G (p.Tyr364Cys)
c.1016A>G (p.Tyr339Cys)
15g.40472304A>TCA391768995CHST14c.1091A>T (p.Tyr364Phe)
c.1016A>T (p.Tyr339Phe)
15g.40472305C>ACA391769000CHST14c.1092C>A (p.Tyr364Ter)
c.1017C>A (p.Tyr339Ter)
 gnomAD v4
15g.40472305C>GCA391769002CHST14c.1092C>G (p.Tyr364Ter)
c.1017C>G (p.Tyr339Ter)
15g.40472305C>TCA489975500CHST14c.1092C>T (p.Tyr364=)
c.1017C>T (p.Tyr339=)
15g.40472307delCA2627824994CHST14c.1094del (p.Pro365HisfsTer?)
c.1019del (p.Pro340HisfsTer?)
 gnomAD v4
15g.40472306C>ACA391769004CHST14c.1093C>A (p.Pro365Thr)
c.1018C>A (p.Pro340Thr)
 gnomAD v4
15g.40472306C=CA2171795472CHST14c.1093C= (p.Pro365=)
c.1018C= (p.Pro340=)
15g.40472306C>GCA391769006CHST14c.1093C>G (p.Pro365Ala)
c.1018C>G (p.Pro340Ala)
15g.40472306C>TCA391769009CHST14c.1093C>T (p.Pro365Ser)
c.1018C>T (p.Pro340Ser)
 dbSNP gnomAD v3 gnomAD v4
15g.40472307C>ACA391769011CHST14c.1094C>A (p.Pro365Gln)
c.1019C>A (p.Pro340Gln)
 dbSNP gnomAD v4
15g.40472307C=CA2171795473CHST14c.1094C= (p.Pro365=)
c.1019C= (p.Pro340=)
15g.40472307C>GCA391769014CHST14c.1094C>G (p.Pro365Arg)
c.1019C>G (p.Pro340Arg)
15g.40472307C>TCA391769017CHST14c.1094C>T (p.Pro365Leu)
c.1019C>T (p.Pro340Leu)
 dbSNP gnomAD v2
15g.40472308A>CCA489975501CHST14c.1095A>C (p.Pro365=)
c.1020A>C (p.Pro340=)
15g.40472308A>GCA489975503CHST14c.1095A>G (p.Pro365=)
c.1020A>G (p.Pro340=)
15g.40472308A>TCA489975502CHST14c.1095A>T (p.Pro365=)
c.1020A>T (p.Pro340=)
15g.40472309C>ACA391769019CHST14c.1096C>A (p.Leu366Met)
c.1021C>A (p.Leu341Met)
15g.40472309C>GCA391769021CHST14c.1096C>G (p.Leu366Val)
c.1021C>G (p.Leu341Val)
15g.40472309C>TCA489975504CHST14c.1096C>T (p.Leu366=)
c.1021C>T (p.Leu341=)
 gnomAD v4
15g.40472310T>ACA391769028CHST14c.1097T>A (p.Leu366Gln)
c.1022T>A (p.Leu341Gln)
15g.40472310T>CCA268823048CHST14c.1097T>C (p.Leu366Pro)
c.1022T>C (p.Leu341Pro)
 dbSNP
15g.40472310T>GCA391769024CHST14c.1097T>G (p.Leu366Arg)
c.1022T>G (p.Leu341Arg)
15g.40472310T=CA2171795474CHST14c.1097T= (p.Leu366=)
c.1022T= (p.Leu341=)

Number of alleles fetched