Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.230710302G>ACA424036581AGTc.522C>T (p.Ala174=)
n.1033C>T
c.549C>T (p.Ala183=)
gnomAD v4
1g.230710302G>CCA424036582AGTc.522C>G (p.Ala174=)
n.1033C>G
c.549C>G (p.Ala183=)
1g.230710302G>TCA424036583AGTc.522C>A (p.Ala174=)
n.1033C>A
c.549C>A (p.Ala183=)
1g.230710302_230710303insCCCTGTACAGCCTCA2650971413AGTc.521_522insAGGCTGTACAGGG (p.Leu175GlyfsTer19)
n.1032_1033insAGGCTGTACAGGG
c.548_549insAGGCTGTACAGGG (p.Leu184GlyfsTer19)
gnomAD v4
1g.230710303G>ACA345206366AGTc.521C>T (p.Ala174Val)
n.1032C>T
c.548C>T (p.Ala183Val)
dbSNP gnomAD v4
1g.230710303G>CCA345206368AGTc.521C>G (p.Ala174Gly)
n.1032C>G
c.548C>G (p.Ala183Gly)
1g.230710303G>TCA345206369AGTc.521C>A (p.Ala174Asp)
n.1032C>A
c.548C>A (p.Ala183Asp)
1g.230710304C>ACA345206371AGTc.520G>T (p.Ala174Ser)
n.1031G>T
c.547G>T (p.Ala183Ser)
dbSNP
1g.230710304C=CA1226669685AGTc.520G= (p.Ala174=)
n.1031G=
c.547G= (p.Ala183=)
1g.230710304C>GCA38871650AGTc.520G>C (p.Ala174Pro)
n.1031G>C
c.547G>C (p.Ala183Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.230710304C>TCA345206373AGTc.520G>A (p.Ala174Thr)
n.1031G>A
c.547G>A (p.Ala183Thr)
1g.230710305A=CA1226669686AGTc.519T= (p.Ser173=)
n.1030T=
c.546T= (p.Ser182=)
1g.230710305A>CCA424036585AGTc.519T>G (p.Ser173=)
n.1030T>G
c.546T>G (p.Ser182=)
1g.230710305A>GCA1448280AGTc.519T>C (p.Ser173=)
n.1030T>C
c.546T>C (p.Ser182=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710305A>TCA424036586AGTc.519T>A (p.Ser173=)
n.1030T>A
c.546T>A (p.Ser182=)
1g.230710306G>ACA345206376AGTc.518C>T (p.Ser173Phe)
n.1029C>T
c.545C>T (p.Ser182Phe)
1g.230710306G>CCA345206378AGTc.518C>G (p.Ser173Cys)
n.1029C>G
c.545C>G (p.Ser182Cys)
1g.230710306G>TCA345206377AGTc.518C>A (p.Ser173Tyr)
n.1029C>A
c.545C>A (p.Ser182Tyr)
1g.230710307A>CCA345206380AGTc.517T>G (p.Ser173Ala)
n.1028T>G
c.544T>G (p.Ser182Ala)
1g.230710307A>GCA345206381AGTc.517T>C (p.Ser173Pro)
n.1028T>C
c.544T>C (p.Ser182Pro)
1g.230710307A>TCA345206383AGTc.517T>A (p.Ser173Thr)
n.1028T>A
c.544T>A (p.Ser182Thr)
1g.230710308C>ACA424036587AGTc.516G>T (p.Leu172=)
n.1027G>T
c.543G>T (p.Leu181=)
1g.230710308C=CA1226669687AGTc.516G= (p.Leu172=)
n.1027G=
c.543G= (p.Leu181=)
1g.230710308C>GCA38871672AGTc.516G>C (p.Leu172=)
n.1027G>C
c.543G>C (p.Leu181=)
dbSNP gnomAD v3 gnomAD v4
1g.230710308C>TCA424036588AGTc.516G>A (p.Leu172=)
n.1027G>A
c.543G>A (p.Leu181=)
gnomAD v4
1g.230710309A>CCA345206385AGTc.515T>G (p.Leu172Arg)
n.1026T>G
c.542T>G (p.Leu181Arg)
1g.230710309A>GCA345206388AGTc.515T>C (p.Leu172Pro)
n.1026T>C
c.542T>C (p.Leu181Pro)
gnomAD v4
1g.230710309A>TCA345206387AGTc.515T>A (p.Leu172Gln)
n.1026T>A
c.542T>A (p.Leu181Gln)
1g.230710310G>ACA424036590AGTc.514C>T (p.Leu172=)
n.1025C>T
c.541C>T (p.Leu181=)
gnomAD v4
1g.230710310G>CCA345206390AGTc.514C>G (p.Leu172Val)
n.1025C>G
c.541C>G (p.Leu181Val)
1g.230710310G>TCA345206391AGTc.514C>A (p.Leu172Met)
n.1025C>A
c.541C>A (p.Leu181Met)
1g.230710311G>ACA1448281AGTc.513C>T (p.Val171=)
n.1024C>T
c.540C>T (p.Val180=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710311G>CCA424036591AGTc.513C>G (p.Val171=)
n.1024C>G
c.540C>G (p.Val180=)
1g.230710311G=CA1143587057AGTc.513C= (p.Val171=)
n.1024C=
c.540C= (p.Val180=)
1g.230710311G>TCA424036592AGTc.513C>A (p.Val171=)
n.1024C>A
c.540C>A (p.Val180=)
1g.230710312A=CA1226669688AGTc.512T= (p.Val171=)
n.1023T=
c.539T= (p.Val180=)
1g.230710312A>CCA345206394AGTc.512T>G (p.Val171Gly)
n.1023T>G
c.539T>G (p.Val180Gly)
1g.230710312A>GCA345206396AGTc.512T>C (p.Val171Ala)
n.1023T>C
c.539T>C (p.Val180Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.230710312A>TCA345206397AGTc.512T>A (p.Val171Asp)
n.1023T>A
c.539T>A (p.Val180Asp)
1g.230710313C>ACA345206399AGTc.511G>T (p.Val171Phe)
n.1022G>T
c.538G>T (p.Val180Phe)
1g.230710313C=CA1226669689AGTc.511G= (p.Val171=)
n.1022G=
c.538G= (p.Val180=)
1g.230710313C>GCA345206400AGTc.511G>C (p.Val171Leu)
n.1022G>C
c.538G>C (p.Val180Leu)
1g.230710313C>TCA345206402AGTc.511G>A (p.Val171Ile)
n.1022G>A
c.538G>A (p.Val180Ile)
ClinVar dbSNP
1g.230710314C>ACA345206403AGTc.510G>T (p.Lys170Asn)
n.1021G>T
c.537G>T (p.Lys179Asn)
1g.230710314C>GCA345206405AGTc.510G>C (p.Lys170Asn)
n.1021G>C
c.537G>C (p.Lys179Asn)
1g.230710314C>TCA424036594AGTc.510G>A (p.Lys170=)
n.1021G>A
c.537G>A (p.Lys179=)
1g.230710315T>ACA345206409AGTc.509A>T (p.Lys170Met)
n.1020A>T
c.536A>T (p.Lys179Met)
1g.230710315T>CCA1448282AGTc.509A>G (p.Lys170Arg)
n.1020A>G
c.536A>G (p.Lys179Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710315T>GCA345206407AGTc.509A>C (p.Lys170Thr)
n.1020A>C
c.536A>C (p.Lys179Thr)
1g.230710315T=CA1226669690AGTc.509A= (p.Lys170=)
n.1020A=
c.536A= (p.Lys179=)
1g.230710316T>ACA345206414AGTc.508A>T (p.Lys170Ter)
n.1019A>T
c.535A>T (p.Lys179Ter)
1g.230710316T>CCA345206411AGTc.508A>G (p.Lys170Glu)
n.1019A>G
c.535A>G (p.Lys179Glu)
1g.230710316T>GCA345206413AGTc.508A>C (p.Lys170Gln)
n.1019A>C
c.535A>C (p.Lys179Gln)
1g.230710317G>ACA424036598AGTc.507C>T (p.His169=)
n.1018C>T
c.534C>T (p.His178=)
1g.230710317G>CCA345206416AGTc.507C>G (p.His169Gln)
n.1018C>G
c.534C>G (p.His178Gln)
1g.230710317G>TCA345206417AGTc.507C>A (p.His169Gln)
n.1018C>A
c.534C>A (p.His178Gln)
1g.230710318T>ACA345206418AGTc.506A>T (p.His169Leu)
n.1017A>T
c.533A>T (p.His178Leu)
1g.230710318T>CCA345206420AGTc.506A>G (p.His169Arg)
n.1017A>G
c.533A>G (p.His178Arg)
1g.230710318T>GCA345206421AGTc.506A>C (p.His169Pro)
n.1017A>C
c.533A>C (p.His178Pro)
1g.230710319G>ACA1448283AGTc.505C>T (p.His169Tyr)
n.1016C>T
c.532C>T (p.His178Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.230710319G>CCA345206425AGTc.505C>G (p.His169Asp)
n.1016C>G
c.532C>G (p.His178Asp)
dbSNP
1g.230710319G=CA1226669691AGTc.505C= (p.His169=)
n.1016C=
c.532C= (p.His178=)
1g.230710319G>TCA345206423AGTc.505C>A (p.His169Asn)
n.1016C>A
c.532C>A (p.His178Asn)
1g.230710319_230710320insACCA2549187249AGTc.504_505insGT (p.His169ValfsTer15)
n.1015_1016insGT
c.531_532insGT (p.His178ValfsTer15)
1g.230710320C>ACA424036600AGTc.504G>T (p.Ala168=)
n.1015G>T
c.531G>T (p.Ala177=)
1g.230710320C=CA1140727497AGTc.504G= (p.Ala168=)
n.1015G=
c.531G= (p.Ala177=)
1g.230710320C>GCA424036601AGTc.504G>C (p.Ala168=)
n.1015G>C
c.531G>C (p.Ala177=)
dbSNP
1g.230710320C>TCA1448284AGTc.504G>A (p.Ala168=)
n.1015G>A
c.531G>A (p.Ala177=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710321G>ACA345206427AGTc.503C>T (p.Ala168Val)
n.1014C>T
c.530C>T (p.Ala177Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.230710321G>CCA345206429AGTc.503C>G (p.Ala168Gly)
n.1014C>G
c.530C>G (p.Ala177Gly)
1g.230710321G=CA1226669692AGTc.503C= (p.Ala168=)
n.1014C=
c.530C= (p.Ala177=)
1g.230710321G>TCA345206430AGTc.503C>A (p.Ala168Glu)
n.1014C>A
c.530C>A (p.Ala177Glu)
dbSNP
1g.230710322C>ACA345206431AGTc.502G>T (p.Ala168Ser)
n.1013G>T
c.529G>T (p.Ala177Ser)
1g.230710322C=CA1226669693AGTc.502G= (p.Ala168=)
n.1013G=
c.529G= (p.Ala177=)
1g.230710322C>GCA345206434AGTc.502G>C (p.Ala168Pro)
n.1013G>C
c.529G>C (p.Ala177Pro)
1g.230710322C>TCA345206432AGTc.502G>A (p.Ala168Thr)
n.1013G>A
c.529G>A (p.Ala177Thr)
dbSNP gnomAD v4
1g.230710322_230710323delCA2564164552AGTc.501_502del (p.His169GlnfsTer20)
n.1012_1013del
c.528_529del (p.His178GlnfsTer20)
1g.230710323A=CA1226669694AGTc.501T= (p.Asp167=)
n.1012T=
c.528T= (p.Asp176=)
1g.230710323A>CCA345206435AGTc.501T>G (p.Asp167Glu)
n.1012T>G
c.528T>G (p.Asp176Glu)
1g.230710323A>GCA424036605AGTc.501T>C (p.Asp167=)
n.1012T>C
c.528T>C (p.Asp176=)
1g.230710323A>TCA345206437AGTc.501T>A (p.Asp167Glu)
n.1012T>A
c.528T>A (p.Asp176Glu)
1g.230710324T>ACA345206439AGTc.500A>T (p.Asp167Val)
n.1011A>T
c.527A>T (p.Asp176Val)
1g.230710324T>CCA345206440AGTc.500A>G (p.Asp167Gly)
n.1011A>G
c.527A>G (p.Asp176Gly)
dbSNP gnomAD v4
1g.230710324T>GCA345206442AGTc.500A>C (p.Asp167Ala)
n.1011A>C
c.527A>C (p.Asp176Ala)
1g.230710324T=CA1226669695AGTc.500A= (p.Asp167=)
n.1011A=
c.527A= (p.Asp176=)
1g.230710324dupCA732703670AGTc.500dup (p.Asp167GlufsTer23)
n.1011dup
c.527dup (p.Asp176GlufsTer23)
dbSNP
1g.230710325C>ACA345206443AGTc.499G>T (p.Asp167Tyr)
n.1010G>T
c.526G>T (p.Asp176Tyr)
1g.230710325C>GCA345206445AGTc.499G>C (p.Asp167His)
n.1010G>C
c.526G>C (p.Asp176His)
1g.230710325C>TCA345206446AGTc.499G>A (p.Asp167Asn)
n.1010G>A
c.526G>A (p.Asp176Asn)
1g.230710326C>ACA424036611AGTc.498G>T (p.Leu166=)
n.1009G>T
c.525G>T (p.Leu175=)
1g.230710326C>GCA424036610AGTc.498G>C (p.Leu166=)
n.1009G>C
c.525G>C (p.Leu175=)
1g.230710326C>TCA424036609AGTc.498G>A (p.Leu166=)
n.1009G>A
c.525G>A (p.Leu175=)
1g.230710327A>CCA345206447AGTc.497T>G (p.Leu166Arg)
n.1008T>G
c.524T>G (p.Leu175Arg)
1g.230710327A>GCA345206449AGTc.497T>C (p.Leu166Pro)
n.1008T>C
c.524T>C (p.Leu175Pro)
1g.230710327A>TCA345206450AGTc.497T>A (p.Leu166Gln)
n.1008T>A
c.524T>A (p.Leu175Gln)
1g.230710328G>ACA424036613AGTc.496C>T (p.Leu166=)
n.1007C>T
c.523C>T (p.Leu175=)
1g.230710328G>CCA345206453AGTc.496C>G (p.Leu166Val)
n.1007C>G
c.523C>G (p.Leu175Val)
1g.230710328G>TCA345206452AGTc.496C>A (p.Leu166Met)
n.1007C>A
c.523C>A (p.Leu175Met)
1g.230710329C>ACA424036614AGTc.495G>T (p.Arg165=)
n.1006G>T
c.522G>T (p.Arg174=)
COSMIC
1g.230710329C>GCA424036615AGTc.495G>C (p.Arg165=)
n.1006G>C
c.522G>C (p.Arg174=)
1g.230710329C>TCA424036616AGTc.495G>A (p.Arg165=)
n.1006G>A
c.522G>A (p.Arg174=)
1g.230710330C>ACA38871705AGTc.494G>T (p.Arg165Leu)
n.1005G>T
c.521G>T (p.Arg174Leu)
dbSNP gnomAD v4
1g.230710330C=CA1147040637AGTc.494G= (p.Arg165=)
n.1005G=
c.521G= (p.Arg174=)
1g.230710330C>GCA345206456AGTc.494G>C (p.Arg165Pro)
n.1005G>C
c.521G>C (p.Arg174Pro)
1g.230710330C>TCA1448285AGTc.494G>A (p.Arg165Gln)
n.1005G>A
c.521G>A (p.Arg174Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710331G>ACA1448286AGTc.493C>T (p.Arg165Trp)
n.1004C>T
c.520C>T (p.Arg174Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.230710331G>CCA345206458AGTc.493C>G (p.Arg165Gly)
n.1004C>G
c.520C>G (p.Arg174Gly)
1g.230710331G=CA1226669696AGTc.493C= (p.Arg165=)
n.1004C=
c.520C= (p.Arg174=)
1g.230710331G>TCA424036620AGTc.493C>A (p.Arg165=)
n.1004C>A
c.520C>A (p.Arg174=)
COSMIC
1g.230710332G>ACA424036622AGTc.492C>T (p.Ser164=)
n.1003C>T
c.519C>T (p.Ser173=)
1g.230710332G>CCA424036623AGTc.492C>G (p.Ser164=)
n.1003C>G
c.519C>G (p.Ser173=)
1g.230710332G>TCA424036624AGTc.492C>A (p.Ser164=)
n.1003C>A
c.519C>A (p.Ser173=)
1g.230710333G>ACA345206459AGTc.491C>T (p.Ser164Phe)
n.1002C>T
c.518C>T (p.Ser173Phe)
gnomAD v4
1g.230710333G>CCA345206461AGTc.491C>G (p.Ser164Cys)
n.1002C>G
c.518C>G (p.Ser173Cys)
dbSNP
1g.230710333G=CA1226669697AGTc.491C= (p.Ser164=)
n.1002C=
c.518C= (p.Ser173=)
1g.230710333G>TCA1448287AGTc.491C>A (p.Ser164Tyr)
n.1002C>A
c.518C>A (p.Ser173Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710334A>CCA345206464AGTc.490T>G (p.Ser164Ala)
n.1001T>G
c.517T>G (p.Ser173Ala)
1g.230710334A>GCA345206467AGTc.490T>C (p.Ser164Pro)
n.1001T>C
c.517T>C (p.Ser173Pro)
COSMIC
1g.230710334A>TCA345206466AGTc.490T>A (p.Ser164Thr)
n.1001T>A
c.517T>A (p.Ser173Thr)
1g.230710335G>ACA1448288AGTc.489C>T (p.Thr163=)
n.1000C>T
c.516C>T (p.Thr172=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710335G>CCA424036628AGTc.489C>G (p.Thr163=)
n.1000C>G
c.516C>G (p.Thr172=)
1g.230710335G=CA1226669698AGTc.489C= (p.Thr163=)
n.1000C=
c.516C= (p.Thr172=)
1g.230710335G>TCA424036629AGTc.489C>A (p.Thr163=)
n.1000C>A
c.516C>A (p.Thr172=)
1g.230710336G>ACA345206470AGTc.488C>T (p.Thr163Ile)
n.999C>T
c.515C>T (p.Thr172Ile)
dbSNP gnomAD v4
1g.230710336G>CCA345206471AGTc.488C>G (p.Thr163Ser)
n.999C>G
c.515C>G (p.Thr172Ser)
1g.230710336G=CA1226669699AGTc.488C= (p.Thr163=)
n.999C=
c.515C= (p.Thr172=)
1g.230710336G>TCA345206472AGTc.488C>A (p.Thr163Asn)
n.999C>A
c.515C>A (p.Thr172Asn)
dbSNP gnomAD v4
1g.230710337T>ACA345206473AGTc.487A>T (p.Thr163Ser)
n.998A>T
c.514A>T (p.Thr172Ser)
1g.230710337T>CCA345206476AGTc.487A>G (p.Thr163Ala)
n.998A>G
c.514A>G (p.Thr172Ala)
1g.230710337T>GCA345206475AGTc.487A>C (p.Thr163Pro)
n.998A>C
c.514A>C (p.Thr172Pro)
1g.230710338G>ACA424036634AGTc.486C>T (p.Cys162=)
n.997C>T
c.513C>T (p.Cys171=)
1g.230710338G>CCA345206478AGTc.486C>G (p.Cys162Trp)
n.997C>G
c.513C>G (p.Cys171Trp)
1g.230710338G=CA1226669700AGTc.486C= (p.Cys162=)
n.997C=
c.513C= (p.Cys171=)
1g.230710338G>TCA345206479AGTc.486C>A (p.Cys162Ter)
n.997C>A
c.513C>A (p.Cys171Ter)
1g.230710339C>ACA345206481AGTc.485G>T (p.Cys162Phe)
n.996G>T
c.512G>T (p.Cys171Phe)
1g.230710339C=CA1226669701AGTc.485G= (p.Cys162=)
n.996G=
c.512G= (p.Cys171=)
1g.230710339C>GCA345206483AGTc.485G>C (p.Cys162Ser)
n.996G>C
c.512G>C (p.Cys171Ser)
1g.230710339C>TCA345206485AGTc.485G>A (p.Cys162Tyr)
n.996G>A
c.512G>A (p.Cys171Tyr)
dbSNP gnomAD v2 gnomAD v4
1g.230710340_230710353dupCA891862742AGTc.472_485dup (p.Cys162Ter)
n.983_996dup
c.499_512dup (p.Cys171Ter)
ClinVar dbSNP
1g.230710340A>CCA345206486AGTc.484T>G (p.Cys162Gly)
n.995T>G
c.511T>G (p.Cys171Gly)
1g.230710340A>GCA345206487AGTc.484T>C (p.Cys162Arg)
n.995T>C
c.511T>C (p.Cys171Arg)
gnomAD v4
1g.230710340A>TCA345206488AGTc.484T>A (p.Cys162Ser)
n.995T>A
c.511T>A (p.Cys171Ser)
1g.230710341G>ACA424036638AGTc.483C>T (p.Asn161=)
n.994C>T
c.510C>T (p.Asn170=)
1g.230710341G>CCA345206490AGTc.483C>G (p.Asn161Lys)
n.994C>G
c.510C>G (p.Asn170Lys)
1g.230710341G>TCA345206492AGTc.483C>A (p.Asn161Lys)
n.994C>A
c.510C>A (p.Asn170Lys)
1g.230710342T>ACA345206494AGTc.482A>T (p.Asn161Ile)
n.993A>T
c.509A>T (p.Asn170Ile)
1g.230710342T>CCA345206495AGTc.482A>G (p.Asn161Ser)
n.993A>G
c.509A>G (p.Asn170Ser)
dbSNP gnomAD v2
1g.230710342T>GCA345206496AGTc.482A>C (p.Asn161Thr)
n.993A>C
c.509A>C (p.Asn170Thr)
1g.230710342T=CA1226669702AGTc.482A= (p.Asn161=)
n.993A=
c.509A= (p.Asn170=)
1g.230710343T>ACA345206500AGTc.481A>T (p.Asn161Tyr)
n.992A>T
c.508A>T (p.Asn170Tyr)
1g.230710343T>CCA38871743AGTc.481A>G (p.Asn161Asp)
n.992A>G
c.508A>G (p.Asn170Asp)
dbSNP gnomAD v3 gnomAD v4
1g.230710343T>GCA345206498AGTc.481A>C (p.Asn161His)
n.992A>C
c.508A>C (p.Asn170His)
1g.230710343T=CA1226669703AGTc.481A= (p.Asn161=)
n.992A=
c.508A= (p.Asn170=)
1g.230710344C>ACA345206503AGTc.480G>T (p.Lys160Asn)
n.991G>T
c.507G>T (p.Lys169Asn)
1g.230710344C>GCA345206502AGTc.480G>C (p.Lys160Asn)
n.991G>C
c.507G>C (p.Lys169Asn)
1g.230710344C>TCA424036644AGTc.480G>A (p.Lys160=)
n.991G>A
c.507G>A (p.Lys169=)
1g.230710345T>ACA345206507AGTc.479A>T (p.Lys160Met)
n.990A>T
c.506A>T (p.Lys169Met)
1g.230710345T>CCA345206505AGTc.479A>G (p.Lys160Arg)
n.990A>G
c.506A>G (p.Lys169Arg)
1g.230710345T>GCA345206509AGTc.479A>C (p.Lys160Thr)
n.990A>C
c.506A>C (p.Lys169Thr)
1g.230710346T>ACA345206510AGTc.478A>T (p.Lys160Ter)
n.989A>T
c.505A>T (p.Lys169Ter)
1g.230710346T>CCA345206513AGTc.478A>G (p.Lys160Glu)
n.989A>G
c.505A>G (p.Lys169Glu)
1g.230710346T>GCA345206511AGTc.478A>C (p.Lys160Gln)
n.989A>C
c.505A>C (p.Lys169Gln)
1g.230710347G>ACA424036656AGTc.477C>T (p.Asp159=)
n.988C>T
c.504C>T (p.Asp168=)
dbSNP
1g.230710347G>CCA345206515AGTc.477C>G (p.Asp159Glu)
n.988C>G
c.504C>G (p.Asp168Glu)
1g.230710347G=CA1144871954AGTc.477C= (p.Asp159=)
n.988C=
c.504C= (p.Asp168=)
1g.230710347G>TCA1448289AGTc.477C>A (p.Asp159Glu)
n.988C>A
c.504C>A (p.Asp168Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710348T>ACA345206517AGTc.476A>T (p.Asp159Val)
n.987A>T
c.503A>T (p.Asp168Val)
gnomAD v4
1g.230710348T>CCA345206518AGTc.476A>G (p.Asp159Gly)
n.987A>G
c.503A>G (p.Asp168Gly)
dbSNP gnomAD v4
1g.230710348T>GCA345206520AGTc.476A>C (p.Asp159Ala)
n.987A>C
c.503A>C (p.Asp168Ala)
1g.230710348T=CA1226669704AGTc.476A= (p.Asp159=)
n.987A=
c.503A= (p.Asp168=)
1g.230710349C>ACA1448290AGTc.475G>T (p.Asp159Tyr)
n.986G>T
c.502G>T (p.Asp168Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710349C=CA1226669705AGTc.475G= (p.Asp159=)
n.986G=
c.502G= (p.Asp168=)
1g.230710349C>GCA345206522AGTc.475G>C (p.Asp159His)
n.986G>C
c.502G>C (p.Asp168His)
1g.230710349C>TCA345206524AGTc.475G>A (p.Asp159Asn)
n.986G>A
c.502G>A (p.Asp168Asn)
1g.230710350C>ACA345206526AGTc.474G>T (p.Lys158Asn)
n.985G>T
c.501G>T (p.Lys167Asn)
1g.230710350C>GCA345206528AGTc.474G>C (p.Lys158Asn)
n.985G>C
c.501G>C (p.Lys167Asn)
1g.230710350C>TCA424036659AGTc.474G>A (p.Lys158=)
n.985G>A
c.501G>A (p.Lys167=)
1g.230710351T>ACA345206530AGTc.473A>T (p.Lys158Met)
n.984A>T
c.500A>T (p.Lys167Met)
1g.230710351T>CCA345206531AGTc.473A>G (p.Lys158Arg)
n.984A>G
c.500A>G (p.Lys167Arg)
1g.230710351T>GCA345206532AGTc.473A>C (p.Lys158Thr)
n.984A>C
c.500A>C (p.Lys167Thr)
1g.230710352T>ACA345206536AGTc.472A>T (p.Lys158Ter)
n.983A>T
c.499A>T (p.Lys167Ter)
1g.230710352T>CCA345206535AGTc.472A>G (p.Lys158Glu)
n.983A>G
c.499A>G (p.Lys167Glu)
1g.230710352T>GCA345206534AGTc.472A>C (p.Lys158Gln)
n.983A>C
c.499A>C (p.Lys167Gln)
1g.230710353C>ACA345206538AGTc.471G>T (p.Trp157Cys)
n.982G>T
c.498G>T (p.Trp166Cys)
1g.230710353C>GCA345206539AGTc.471G>C (p.Trp157Cys)
n.982G>C
c.498G>C (p.Trp166Cys)
1g.230710353C>TCA345206540AGTc.471G>A (p.Trp157Ter)
n.982G>A
c.498G>A (p.Trp166Ter)
1g.230710354C>ACA345206542AGTc.470G>T (p.Trp157Leu)
n.981G>T
c.497G>T (p.Trp166Leu)
1g.230710354C>GCA345206543AGTc.470G>C (p.Trp157Ser)
n.981G>C
c.497G>C (p.Trp166Ser)
1g.230710354C>TCA345206545AGTc.470G>A (p.Trp157Ter)
n.981G>A
c.497G>A (p.Trp166Ter)
1g.230710355A>CCA345206546AGTc.469T>G (p.Trp157Gly)
n.980T>G
c.496T>G (p.Trp166Gly)
1g.230710355A>GCA345206548AGTc.469T>C (p.Trp157Arg)
n.980T>C
c.496T>C (p.Trp166Arg)
1g.230710355A>TCA345206549AGTc.469T>A (p.Trp157Arg)
n.980T>A
c.496T>A (p.Trp166Arg)
1g.230710356A>CCA424036670AGTc.468T>G (p.Pro156=)
n.979T>G
c.495T>G (p.Pro165=)
1g.230710356A>GCA424036671AGTc.468T>C (p.Pro156=)
n.979T>C
c.495T>C (p.Pro165=)
1g.230710356A>TCA424036672AGTc.468T>A (p.Pro156=)
n.979T>A
c.495T>A (p.Pro165=)
1g.230710357G>ACA345206550AGTc.467C>T (p.Pro156Leu)
n.978C>T
c.494C>T (p.Pro165Leu)
1g.230710357G>CCA345206551AGTc.467C>G (p.Pro156Arg)
n.978C>G
c.494C>G (p.Pro165Arg)
1g.230710357G>TCA345206553AGTc.467C>A (p.Pro156His)
n.978C>A
c.494C>A (p.Pro165His)
1g.230710358G>ACA345206558AGTc.466C>T (p.Pro156Ser)
n.977C>T
c.493C>T (p.Pro165Ser)
1g.230710358G>CCA345206557AGTc.466C>G (p.Pro156Ala)
n.977C>G
c.493C>G (p.Pro165Ala)
1g.230710358G>TCA345206555AGTc.466C>A (p.Pro156Thr)
n.977C>A
c.493C>A (p.Pro165Thr)
1g.230710359A>CCA424036681AGTc.465T>G (p.Val155=)
n.976T>G
c.492T>G (p.Val164=)
1g.230710359A>GCA424036683AGTc.465T>C (p.Val155=)
n.976T>C
c.492T>C (p.Val164=)
1g.230710359A>TCA424036684AGTc.465T>A (p.Val155=)
n.976T>A
c.492T>A (p.Val164=)
1g.230710360A>CCA345206560AGTc.464T>G (p.Val155Gly)
n.975T>G
c.491T>G (p.Val164Gly)
1g.230710360A>GCA345206561AGTc.464T>C (p.Val155Ala)
n.975T>C
c.491T>C (p.Val164Ala)
1g.230710360A>TCA345206562AGTc.464T>A (p.Val155Asp)
n.975T>A
c.491T>A (p.Val164Asp)
1g.230710361C>ACA345206564AGTc.463G>T (p.Val155Phe)
n.974G>T
c.490G>T (p.Val164Phe)
1g.230710361C=CA1226669706AGTc.463G= (p.Val155=)
n.974G=
c.490G= (p.Val164=)
1g.230710361C>GCA345206565AGTc.463G>C (p.Val155Leu)
n.974G>C
c.490G>C (p.Val164Leu)
1g.230710361C>TCA1448291AGTc.463G>A (p.Val155Ile)
n.974G>A
c.490G>A (p.Val164Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710362A=CA1226669707AGTc.462T= (p.Gly154=)
n.973T=
c.489T= (p.Gly163=)
1g.230710362A>CCA424036690AGTc.462T>G (p.Gly154=)
n.973T>G
c.489T>G (p.Gly163=)
dbSNP gnomAD v4
1g.230710362A>GCA424036691AGTc.462T>C (p.Gly154=)
n.973T>C
c.489T>C (p.Gly163=)
1g.230710362A>TCA424036692AGTc.462T>A (p.Gly154=)
n.973T>A
c.489T>A (p.Gly163=)
1g.230710363C>ACA345206568AGTc.461G>T (p.Gly154Val)
n.972G>T
c.488G>T (p.Gly163Val)
1g.230710363C>GCA345206569AGTc.461G>C (p.Gly154Ala)
n.972G>C
c.488G>C (p.Gly163Ala)
1g.230710363C>TCA345206570AGTc.461G>A (p.Gly154Asp)
n.972G>A
c.488G>A (p.Gly163Asp)
1g.230710364C>ACA345206572AGTc.460G>T (p.Gly154Cys)
n.971G>T
c.487G>T (p.Gly163Cys)
1g.230710364C>GCA345206574AGTc.460G>C (p.Gly154Arg)
n.971G>C
c.487G>C (p.Gly163Arg)
1g.230710364C>TCA345206575AGTc.460G>A (p.Gly154Ser)
n.971G>A
c.487G>A (p.Gly163Ser)
gnomAD v4
1g.230710365C>ACA424036700AGTc.459G>T (p.Leu153=)
n.970G>T
c.486G>T (p.Leu162=)
1g.230710365C>GCA424036702AGTc.459G>C (p.Leu153=)
n.970G>C
c.486G>C (p.Leu162=)
1g.230710365C>TCA424036704AGTc.459G>A (p.Leu153=)
n.970G>A
c.486G>A (p.Leu162=)
1g.230710366A=CA1226669708AGTc.458T= (p.Leu153=)
n.969T=
c.485T= (p.Leu162=)
1g.230710366A>CCA345206579AGTc.458T>G (p.Leu153Arg)
n.969T>G
c.485T>G (p.Leu162Arg)
1g.230710366A>GCA345206578AGTc.458T>C (p.Leu153Pro)
n.969T>C
c.485T>C (p.Leu162Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.230710366A>TCA345206577AGTc.458T>A (p.Leu153Gln)
n.969T>A
c.485T>A (p.Leu162Gln)
1g.230710367G>ACA424036707AGTc.457C>T (p.Leu153=)
n.968C>T
c.484C>T (p.Leu162=)
1g.230710367G>CCA345206581AGTc.457C>G (p.Leu153Val)
n.968C>G
c.484C>G (p.Leu162Val)
dbSNP
1g.230710367G=CA1226669709AGTc.457C= (p.Leu153=)
n.968C=
c.484C= (p.Leu162=)
1g.230710367G>TCA345206583AGTc.457C>A (p.Leu153Met)
n.968C>A
c.484C>A (p.Leu162Met)
1g.230710368G>ACA424036711AGTc.456C>T (p.Ile152=)
n.967C>T
c.483C>T (p.Ile161=)
gnomAD v4 COSMIC
1g.230710368G>CCA345206585AGTc.456C>G (p.Ile152Met)
n.967C>G
c.483C>G (p.Ile161Met)
1g.230710368G>TCA424036710AGTc.456C>A (p.Ile152=)
n.967C>A
c.483C>A (p.Ile161=)
1g.230710369A>CCA345206586AGTc.455T>G (p.Ile152Ser)
n.966T>G
c.482T>G (p.Ile161Ser)
1g.230710369A>GCA345206588AGTc.455T>C (p.Ile152Thr)
n.966T>C
c.482T>C (p.Ile161Thr)
1g.230710369A>TCA345206589AGTc.455T>A (p.Ile152Asn)
n.966T>A
c.482T>A (p.Ile161Asn)
1g.230710369_230710370delCA2650971414AGTc.454_455del (p.Ile152ProfsTer?)
n.965_966del
c.481_482del (p.Ile161ProfsTer?)
gnomAD v4
1g.230710370T>ACA345206591AGTc.454A>T (p.Ile152Phe)
n.965A>T
c.481A>T (p.Ile161Phe)
1g.230710370T>CCA1448292AGTc.454A>G (p.Ile152Val)
n.965A>G
c.481A>G (p.Ile161Val)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710370T>GCA345206593AGTc.454A>C (p.Ile152Leu)
n.965A>C
c.481A>C (p.Ile161Leu)
1g.230710370T=CA1226669710AGTc.454A= (p.Ile152=)
n.965A=
c.481A= (p.Ile161=)
1g.230710371T>ACA424036723AGTc.453A>T (p.Ala151=)
n.964A>T
c.480A>T (p.Ala160=)
1g.230710371T>CCA424036716AGTc.453A>G (p.Ala151=)
n.964A>G
c.480A>G (p.Ala160=)
1g.230710371T>GCA424036719AGTc.453A>C (p.Ala151=)
n.964A>C
c.480A>C (p.Ala160=)
1g.230710372G>ACA345206595AGTc.452C>T (p.Ala151Val)
n.963C>T
c.479C>T (p.Ala160Val)
1g.230710372G>CCA345206597AGTc.452C>G (p.Ala151Gly)
n.963C>G
c.479C>G (p.Ala160Gly)
1g.230710372G>TCA345206598AGTc.452C>A (p.Ala151Glu)
n.963C>A
c.479C>A (p.Ala160Glu)
1g.230710373C>ACA345206603AGTc.451G>T (p.Ala151Ser)
n.962G>T
c.478G>T (p.Ala160Ser)
1g.230710373C>GCA345206601AGTc.451G>C (p.Ala151Pro)
n.962G>C
c.478G>C (p.Ala160Pro)
1g.230710373C>TCA345206600AGTc.451G>A (p.Ala151Thr)
n.962G>A
c.478G>A (p.Ala160Thr)
COSMIC
1g.230710374C>ACA345206604AGTc.450G>T (p.Gln150His)
n.961G>T
c.477G>T (p.Gln159His)
1g.230710374C=CA1226669711AGTc.450G= (p.Gln150=)
n.961G=
c.477G= (p.Gln159=)
1g.230710374C>GCA345206605AGTc.450G>C (p.Gln150His)
n.961G>C
c.477G>C (p.Gln159His)
1g.230710374C>TCA424036728AGTc.450G>A (p.Gln150=)
n.961G>A
c.477G>A (p.Gln159=)
dbSNP
1g.230710375T>ACA345206607AGTc.449A>T (p.Gln150Leu)
n.960A>T
c.476A>T (p.Gln159Leu)
1g.230710375T>CCA345206608AGTc.449A>G (p.Gln150Arg)
n.960A>G
c.476A>G (p.Gln159Arg)
dbSNP
1g.230710375T>GCA345206610AGTc.449A>C (p.Gln150Pro)
n.960A>C
c.476A>C (p.Gln159Pro)
1g.230710375T=CA1226669712AGTc.449A= (p.Gln150=)
n.960A=
c.476A= (p.Gln159=)
1g.230710376G>ACA345206612AGTc.448C>T (p.Gln150Ter)
n.959C>T
c.475C>T (p.Gln159Ter)
dbSNP gnomAD v4
1g.230710376G>CCA345206614AGTc.448C>G (p.Gln150Glu)
n.959C>G
c.475C>G (p.Gln159Glu)
1g.230710376G=CA1226669713AGTc.448C= (p.Gln150=)
n.959C=
c.475C= (p.Gln159=)
1g.230710376G>TCA345206615AGTc.448C>A (p.Gln150Lys)
n.959C>A
c.475C>A (p.Gln159Lys)
1g.230710377T>ACA424036737AGTc.447A>T (p.Leu149=)
n.958A>T
c.474A>T (p.Leu158=)
1g.230710377T>CCA424036738AGTc.447A>G (p.Leu149=)
n.958A>G
c.474A>G (p.Leu158=)
dbSNP gnomAD v4
1g.230710377T>GCA424036739AGTc.447A>C (p.Leu149=)
n.958A>C
c.474A>C (p.Leu158=)
1g.230710377T=CA1226669714AGTc.447A= (p.Leu149=)
n.958A=
c.474A= (p.Leu158=)
1g.230710378A>CCA345206616AGTc.446T>G (p.Leu149Arg)
n.957T>G
c.473T>G (p.Leu158Arg)
1g.230710378A>GCA345206618AGTc.446T>C (p.Leu149Pro)
n.957T>C
c.473T>C (p.Leu158Pro)
1g.230710378A>TCA345206620AGTc.446T>A (p.Leu149Gln)
n.957T>A
c.473T>A (p.Leu158Gln)
1g.230710379G>ACA424036744AGTc.445C>T (p.Leu149=)
n.956C>T
c.472C>T (p.Leu158=)
1g.230710379G>CCA345206621AGTc.445C>G (p.Leu149Val)
n.956C>G
c.472C>G (p.Leu158Val)
1g.230710379G>TCA345206623AGTc.445C>A (p.Leu149Ile)
n.956C>A
c.472C>A (p.Leu158Ile)
1g.230710380C>ACA345206624AGTc.444G>T (p.Arg148Ser)
n.955G>T
c.471G>T (p.Arg157Ser)
1g.230710380C>GCA345206626AGTc.444G>C (p.Arg148Ser)
n.955G>C
c.471G>C (p.Arg157Ser)
1g.230710380C>TCA424036750AGTc.444G>A (p.Arg148=)
n.955G>A
c.471G>A (p.Arg157=)
1g.230710381C>ACA345206628AGTc.443G>T (p.Arg148Met)
n.954G>T
c.470G>T (p.Arg157Met)
1g.230710381C=CA1226669715AGTc.443G= (p.Arg148=)
n.954G=
c.470G= (p.Arg157=)
1g.230710381C>GCA345206630AGTc.443G>C (p.Arg148Thr)
n.954G>C
c.470G>C (p.Arg157Thr)
1g.230710381C>TCA345206629AGTc.443G>A (p.Arg148Lys)
n.954G>A
c.470G>A (p.Arg157Lys)
dbSNP gnomAD v2 gnomAD v4
1g.230710382T>ACA345206631AGTc.442A>T (p.Arg148Trp)
n.953A>T
c.469A>T (p.Arg157Trp)
1g.230710382T>CCA345206633AGTc.442A>G (p.Arg148Gly)
n.953A>G
c.469A>G (p.Arg157Gly)
1g.230710382T>GCA424036755AGTc.442A>C (p.Arg148=)
n.953A>C
c.469A>C (p.Arg157=)
gnomAD v4
1g.230710383G>ACA424036758AGTc.441C>T (p.Asp147=)
n.952C>T
c.468C>T (p.Asp156=)
1g.230710383G>CCA345206635AGTc.441C>G (p.Asp147Glu)
n.952C>G
c.468C>G (p.Asp156Glu)
1g.230710383G=CA1226669716AGTc.441C= (p.Asp147=)
n.952C=
c.468C= (p.Asp156=)
1g.230710383G>TCA345206637AGTc.441C>A (p.Asp147Glu)
n.952C>A
c.468C>A (p.Asp156Glu)
dbSNP gnomAD v3 gnomAD v4
1g.230710384T>ACA345206638AGTc.440A>T (p.Asp147Val)
n.951A>T
c.467A>T (p.Asp156Val)
1g.230710384T>CCA1448293AGTc.440A>G (p.Asp147Gly)
n.951A>G
c.467A>G (p.Asp156Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710384T>GCA345206640AGTc.440A>C (p.Asp147Ala)
n.951A>C
c.467A>C (p.Asp156Ala)
1g.230710384T=CA1140727498AGTc.440A= (p.Asp147=)
n.951A=
c.467A= (p.Asp156=)
1g.230710385C>ACA345206641AGTc.439G>T (p.Asp147Tyr)
n.950G>T
c.466G>T (p.Asp156Tyr)
1g.230710385C>GCA345206643AGTc.439G>C (p.Asp147His)
n.950G>C
c.466G>C (p.Asp156His)
gnomAD v4 COSMIC
1g.230710385C>TCA345206644AGTc.439G>A (p.Asp147Asn)
n.950G>A
c.466G>A (p.Asp156Asn)
COSMIC
1g.230710386A>CCA424036760AGTc.438T>G (p.Ala146=)
n.949T>G
c.465T>G (p.Ala155=)
1g.230710386A>GCA424036761AGTc.438T>C (p.Ala146=)
n.949T>C
c.465T>C (p.Ala155=)
1g.230710386A>TCA424036762AGTc.438T>A (p.Ala146=)
n.949T>A
c.465T>A (p.Ala155=)
1g.230710387G>ACA1448294AGTc.437C>T (p.Ala146Val)
n.948C>T
c.464C>T (p.Ala155Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710387G>CCA345206648AGTc.437C>G (p.Ala146Gly)
n.948C>G
c.464C>G (p.Ala155Gly)
1g.230710387G=CA1141929753AGTc.437C= (p.Ala146=)
n.948C=
c.464C= (p.Ala155=)
1g.230710387G>TCA345206645AGTc.437C>A (p.Ala146Asp)
n.948C>A
c.464C>A (p.Ala155Asp)
1g.230710388C>ACA345206650AGTc.436G>T (p.Ala146Ser)
n.947G>T
c.463G>T (p.Ala155Ser)
1g.230710388C=CA1226669717AGTc.436G= (p.Ala146=)
n.947G=
c.463G= (p.Ala155=)
1g.230710388C>GCA345206651AGTc.436G>C (p.Ala146Pro)
n.947G>C
c.463G>C (p.Ala155Pro)
1g.230710388C>TCA345206653AGTc.436G>A (p.Ala146Thr)
n.947G>A
c.463G>A (p.Ala155Thr)
dbSNP gnomAD v2 gnomAD v4
1g.230710389T>ACA424036764AGTc.435A>T (p.Thr145=)
n.946A>T
c.462A>T (p.Thr154=)
1g.230710389T>CCA424036765AGTc.435A>G (p.Thr145=)
n.946A>G
c.462A>G (p.Thr154=)
1g.230710389T>GCA424036766AGTc.435A>C (p.Thr145=)
n.946A>C
c.462A>C (p.Thr154=)
1g.230710393_230710394delCA2574015666AGTc.434_435del (p.Thr145SerfsTer2)
n.945_946del
c.461_462del (p.Thr154SerfsTer2)
1g.230710390G>ACA1448295AGTc.434C>T (p.Thr145Ile)
n.945C>T
c.461C>T (p.Thr154Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710390G>CCA345206655AGTc.434C>G (p.Thr145Arg)
n.945C>G
c.461C>G (p.Thr154Arg)
1g.230710390G=CA1226669718AGTc.434C= (p.Thr145=)
n.945C=
c.461C= (p.Thr154=)
1g.230710390G>TCA345206656AGTc.434C>A (p.Thr145Lys)
n.945C>A
c.461C>A (p.Thr154Lys)
1g.230710391T>ACA345206659AGTc.433A>T (p.Thr145Ser)
n.944A>T
c.460A>T (p.Thr154Ser)
1g.230710391T>CCA345206657AGTc.433A>G (p.Thr145Ala)
n.944A>G
c.460A>G (p.Thr154Ala)
dbSNP
1g.230710391T>GCA345206658AGTc.433A>C (p.Thr145Pro)
n.944A>C
c.460A>C (p.Thr154Pro)
gnomAD v4
1g.230710391T=CA1226669719AGTc.433A= (p.Thr145=)
n.944A=
c.460A= (p.Thr154=)
1g.230710392G>ACA424036769AGTc.432C>T (p.His144=)
n.943C>T
c.459C>T (p.His153=)
dbSNP gnomAD v2 gnomAD v4
1g.230710392G>CCA345206660AGTc.432C>G (p.His144Gln)
n.943C>G
c.459C>G (p.His153Gln)
1g.230710392G=CA1226669720AGTc.432C= (p.His144=)
n.943C=
c.459C= (p.His153=)
1g.230710392G>TCA345206661AGTc.432C>A (p.His144Gln)
n.943C>A
c.459C>A (p.His153Gln)
1g.230710393T>ACA345206662AGTc.431A>T (p.His144Leu)
n.942A>T
c.458A>T (p.His153Leu)
1g.230710393T>CCA345206663AGTc.431A>G (p.His144Arg)
n.942A>G
c.458A>G (p.His153Arg)
dbSNP gnomAD v2 gnomAD v4
1g.230710393T>GCA345206664AGTc.431A>C (p.His144Pro)
n.942A>C
c.458A>C (p.His153Pro)
1g.230710393T=CA1226669721AGTc.431A= (p.His144=)
n.942A=
c.458A= (p.His153=)
1g.230710394G>ACA345206665AGTc.430C>T (p.His144Tyr)
n.941C>T
c.457C>T (p.His153Tyr)
dbSNP gnomAD v3 gnomAD v4
1g.230710394G>CCA345206667AGTc.430C>G (p.His144Asp)
n.941C>G
c.457C>G (p.His153Asp)
gnomAD v4
1g.230710394G=CA1226669722AGTc.430C= (p.His144=)
n.941C=
c.457C= (p.His153=)
1g.230710394G>TCA345206666AGTc.430C>A (p.His144Asn)
n.941C>A
c.457C>A (p.His153Asn)
1g.230710395G>ACA424036771AGTc.429C>T (p.Asp143=)
n.940C>T
c.456C>T (p.Asp152=)
1g.230710395G>CCA345206668AGTc.429C>G (p.Asp143Glu)
n.940C>G
c.456C>G (p.Asp152Glu)
1g.230710395G>TCA345206669AGTc.429C>A (p.Asp143Glu)
n.940C>A
c.456C>A (p.Asp152Glu)
1g.230710396T>ACA345206670AGTc.428A>T (p.Asp143Val)
n.939A>T
c.455A>T (p.Asp152Val)
1g.230710396T>CCA345206671AGTc.428A>G (p.Asp143Gly)
n.939A>G
c.455A>G (p.Asp152Gly)
1g.230710396T>GCA345206672AGTc.428A>C (p.Asp143Ala)
n.939A>C
c.455A>C (p.Asp152Ala)
1g.230710397C>ACA345206673AGTc.427G>T (p.Asp143Tyr)
n.938G>T
c.454G>T (p.Asp152Tyr)
1g.230710397C>GCA345206674AGTc.427G>C (p.Asp143His)
n.938G>C
c.454G>C (p.Asp152His)
1g.230710397C>TCA345206675AGTc.427G>A (p.Asp143Asn)
n.938G>A
c.454G>A (p.Asp152Asn)
1g.230710398C>ACA345206676AGTc.426G>T (p.Leu142Phe)
n.937G>T
c.453G>T (p.Leu151Phe)
1g.230710398C=CA1226669723AGTc.426G= (p.Leu142=)
n.937G=
c.453G= (p.Leu151=)
1g.230710398C>GCA345206677AGTc.426G>C (p.Leu142Phe)
n.937G>C
c.453G>C (p.Leu151Phe)
dbSNP gnomAD v2 gnomAD v4
1g.230710398C>TCA424036774AGTc.426G>A (p.Leu142=)
n.937G>A
c.453G>A (p.Leu151=)
1g.230710399A=CA1142347657AGTc.425T= (p.Leu142=)
n.936T=
c.452T= (p.Leu151=)
1g.230710399A>CCA1448296AGTc.425T>G (p.Leu142Trp)
n.936T>G
c.452T>G (p.Leu151Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710399A>GCA1448297AGTc.425T>C (p.Leu142Ser)
n.936T>C
c.452T>C (p.Leu151Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710399A>TCA345206678AGTc.425T>A (p.Leu142Ter)
n.936T>A
c.452T>A (p.Leu151Ter)
1g.230710400A>CCA345206679AGTc.424T>G (p.Leu142Val)
n.935T>G
c.451T>G (p.Leu151Val)
1g.230710400A>GCA424036778AGTc.424T>C (p.Leu142=)
n.935T>C
c.451T>C (p.Leu151=)
1g.230710400A>TCA345206680AGTc.424T>A (p.Leu142Met)
n.935T>A
c.451T>A (p.Leu151Met)
1g.230710401G>ACA424036782AGTc.423C>T (p.Ala141=)
n.934C>T
c.450C>T (p.Ala150=)
dbSNP gnomAD v2 gnomAD v4
1g.230710401G>CCA424036784AGTc.423C>G (p.Ala141=)
n.934C>G
c.450C>G (p.Ala150=)
1g.230710401G=CA1226669724AGTc.423C= (p.Ala141=)
n.934C=
c.450C= (p.Ala150=)
1g.230710401G>TCA424036783AGTc.423C>A (p.Ala141=)
n.934C>A
c.450C>A (p.Ala150=)
1g.230710402G>ACA345206681AGTc.422C>T (p.Ala141Val)
n.933C>T
c.449C>T (p.Ala150Val)
dbSNP gnomAD v2 gnomAD v4
1g.230710402G>CCA345206683AGTc.422C>G (p.Ala141Gly)
n.933C>G
c.449C>G (p.Ala150Gly)
1g.230710402G=CA1226669725AGTc.422C= (p.Ala141=)
n.933C=
c.449C= (p.Ala150=)
1g.230710402G>TCA345206682AGTc.422C>A (p.Ala141Asp)
n.933C>A
c.449C>A (p.Ala150Asp)

Number of alleles fetched