Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.73418244G>ACA127974ALBc.1585G>A (p.Glu529Lys)
c.1240G>A (p.Glu414Lys)
c.1009G>A (p.Glu337Lys)
c.*864G>A (n.*864G>A)
n.239G>A
c.1135G>A (p.Glu379Lys)
n.1132G>A
c.1118G>A
c.946G>A (p.Glu316Lys)
ClinVar dbSNP COSMIC
4g.73418244G>CCA357244978ALBc.1585G>C (p.Glu529Gln)
c.1240G>C (p.Glu414Gln)
c.1009G>C (p.Glu337Gln)
c.*864G>C (n.*864G>C)
n.239G>C
c.1135G>C (p.Glu379Gln)
n.1132G>C
c.1118G>C
c.946G>C (p.Glu316Gln)
dbSNP
4g.73418244G=CA1468146932ALBc.1585G= (p.Glu529=)
c.1240G= (p.Glu414=)
c.1009G= (p.Glu337=)
c.*864G= (n.*864G=)
n.239G=
c.1135G= (p.Glu379=)
n.1132G=
c.1118G=
c.946G= (p.Glu316=)
4g.73418244G>TCA357244981ALBc.1585G>T (p.Glu529Ter)
c.1240G>T (p.Glu414Ter)
c.1009G>T (p.Glu337Ter)
c.*864G>T (n.*864G>T)
n.239G>T
c.1135G>T (p.Glu379Ter)
n.1132G>T
c.1118G>T
c.946G>T (p.Glu316Ter)
4g.73418245A>CCA357244985ALBc.1586A>C (p.Glu529Ala)
c.1241A>C (p.Glu414Ala)
c.1010A>C (p.Glu337Ala)
c.*865A>C (n.*865A>C)
n.240A>C
c.1136A>C (p.Glu379Ala)
n.1133A>C
c.1119A>C
c.947A>C (p.Glu316Ala)
4g.73418245A>GCA357244987ALBc.1586A>G (p.Glu529Gly)
c.1241A>G (p.Glu414Gly)
c.1010A>G (p.Glu337Gly)
c.*865A>G (n.*865A>G)
n.240A>G
c.1136A>G (p.Glu379Gly)
n.1133A>G
c.1119A>G
c.947A>G (p.Glu316Gly)
4g.73418245A>TCA357244988ALBc.1586A>T (p.Glu529Val)
c.1241A>T (p.Glu414Val)
c.1010A>T (p.Glu337Val)
c.*865A>T (n.*865A>T)
n.240A>T
c.1136A>T (p.Glu379Val)
n.1133A>T
c.1119A>T
c.947A>T (p.Glu316Val)
dbSNP
4g.73418247dupCA2706482951ALBc.1588dup (p.Thr530AsnfsTer13)
c.1243dup (p.Thr415AsnfsTer13)
c.1012dup (p.Thr338AsnfsTer13)
c.*867dup (n.*867dup)
n.242dup
c.1138dup (p.Thr380AsnfsTer13)
n.1135dup
c.1121dup
c.949dup (p.Thr317AsnfsTer13)
dbSNP
4g.73418246A>CCA357244992ALBc.1587A>C (p.Glu529Asp)
c.1242A>C (p.Glu414Asp)
c.1011A>C (p.Glu337Asp)
c.*866A>C (n.*866A>C)
n.241A>C
c.1137A>C (p.Glu379Asp)
n.1134A>C
c.1120A>C
c.948A>C (p.Glu316Asp)
4g.73418246A>GCA439948408ALBc.1587A>G (p.Glu529=)
c.1242A>G (p.Glu414=)
c.1011A>G (p.Glu337=)
c.*866A>G (n.*866A>G)
n.241A>G
c.1137A>G (p.Glu379=)
n.1134A>G
c.1120A>G
c.948A>G (p.Glu316=)
4g.73418246A>TCA357245002ALBc.1587A>T (p.Glu529Asp)
c.1242A>T (p.Glu414Asp)
c.1011A>T (p.Glu337Asp)
c.*866A>T (n.*866A>T)
n.241A>T
c.1137A>T (p.Glu379Asp)
n.1134A>T
c.1120A>T
c.948A>T (p.Glu316Asp)
4g.73418247A>CCA357245008ALBc.1588A>C (p.Thr530Pro)
c.1243A>C (p.Thr415Pro)
c.1012A>C (p.Thr338Pro)
c.*867A>C (n.*867A>C)
n.242A>C
c.1138A>C (p.Thr380Pro)
n.1135A>C
c.1121A>C
c.949A>C (p.Thr317Pro)
gnomAD v4
4g.73418247A>GCA357245010ALBc.1588A>G (p.Thr530Ala)
c.1243A>G (p.Thr415Ala)
c.1012A>G (p.Thr338Ala)
c.*867A>G (n.*867A>G)
n.242A>G
c.1138A>G (p.Thr380Ala)
n.1135A>G
c.1121A>G
c.949A>G (p.Thr317Ala)
4g.73418247A>TCA357245005ALBc.1588A>T (p.Thr530Ser)
c.1243A>T (p.Thr415Ser)
c.1012A>T (p.Thr338Ser)
c.*867A>T (n.*867A>T)
n.242A>T
c.1138A>T (p.Thr380Ser)
n.1135A>T
c.1121A>T
c.949A>T (p.Thr317Ser)
dbSNP gnomAD v4
4g.73418248C>ACA357245013ALBc.1589C>A (p.Thr530Lys)
c.1244C>A (p.Thr415Lys)
c.1013C>A (p.Thr338Lys)
c.*868C>A (n.*868C>A)
n.243C>A
c.1139C>A (p.Thr380Lys)
n.1136C>A
c.1122C>A
c.950C>A (p.Thr317Lys)
4g.73418248C>GCA357245017ALBc.1589C>G (p.Thr530Arg)
c.1244C>G (p.Thr415Arg)
c.1013C>G (p.Thr338Arg)
c.*868C>G (n.*868C>G)
n.243C>G
c.1139C>G (p.Thr380Arg)
n.1136C>G
c.1122C>G
c.950C>G (p.Thr317Arg)
dbSNP
4g.73418248C>TCA357245018ALBc.1589C>T (p.Thr530Ile)
c.1244C>T (p.Thr415Ile)
c.1013C>T (p.Thr338Ile)
c.*868C>T (n.*868C>T)
n.243C>T
c.1139C>T (p.Thr380Ile)
n.1136C>T
c.1122C>T
c.950C>T (p.Thr317Ile)
4g.73418249A=CA1468146935ALBc.1590A= (p.Thr530=)
c.1245A= (p.Thr415=)
c.1014A= (p.Thr338=)
c.*869A= (n.*869A=)
n.244A=
c.1140A= (p.Thr380=)
n.1137A=
c.1123A=
c.951A= (p.Thr317=)
4g.73418249A>CCA439948409ALBc.1590A>C (p.Thr530=)
c.1245A>C (p.Thr415=)
c.1014A>C (p.Thr338=)
c.*869A>C (n.*869A>C)
n.244A>C
c.1140A>C (p.Thr380=)
n.1137A>C
c.1123A>C
c.951A>C (p.Thr317=)
4g.73418249A>GCA99710533ALBc.1590A>G (p.Thr530=)
c.1245A>G (p.Thr415=)
c.1014A>G (p.Thr338=)
c.*869A>G (n.*869A>G)
n.244A>G
c.1140A>G (p.Thr380=)
n.1137A>G
c.1123A>G
c.951A>G (p.Thr317=)
dbSNP gnomAD v3 gnomAD v4
4g.73418249A>TCA439948410ALBc.1590A>T (p.Thr530=)
c.1245A>T (p.Thr415=)
c.1014A>T (p.Thr338=)
c.*869A>T (n.*869A>T)
n.244A>T
c.1140A>T (p.Thr380=)
n.1137A>T
c.1123A>T
c.951A>T (p.Thr317=)
gnomAD v4
4g.73418250T>ACA357245020ALBc.1591T>A (p.Phe531Ile)
c.1246T>A (p.Phe416Ile)
c.1015T>A (p.Phe339Ile)
c.*870T>A (n.*870T>A)
n.245T>A
c.1141T>A (p.Phe381Ile)
n.1138T>A
c.1124T>A
c.952T>A (p.Phe318Ile)
4g.73418250T>CCA357245022ALBc.1591T>C (p.Phe531Leu)
c.1246T>C (p.Phe416Leu)
c.1015T>C (p.Phe339Leu)
c.*870T>C (n.*870T>C)
n.245T>C
c.1141T>C (p.Phe381Leu)
n.1138T>C
c.1124T>C
c.952T>C (p.Phe318Leu)
4g.73418250T>GCA357245024ALBc.1591T>G (p.Phe531Val)
c.1246T>G (p.Phe416Val)
c.1015T>G (p.Phe339Val)
c.*870T>G (n.*870T>G)
n.245T>G
c.1141T>G (p.Phe381Val)
n.1138T>G
c.1124T>G
c.952T>G (p.Phe318Val)
4g.73418251T>ACA357245027ALBc.1592T>A (p.Phe531Tyr)
c.1247T>A (p.Phe416Tyr)
c.1016T>A (p.Phe339Tyr)
c.*871T>A (n.*871T>A)
n.246T>A
c.1142T>A (p.Phe381Tyr)
n.1139T>A
c.1125T>A
c.953T>A (p.Phe318Tyr)
4g.73418251T>CCA357245029ALBc.1592T>C (p.Phe531Ser)
c.1247T>C (p.Phe416Ser)
c.1016T>C (p.Phe339Ser)
c.*871T>C (n.*871T>C)
n.246T>C
c.1142T>C (p.Phe381Ser)
n.1139T>C
c.1125T>C
c.953T>C (p.Phe318Ser)
gnomAD v4
4g.73418251T>GCA357245031ALBc.1592T>G (p.Phe531Cys)
c.1247T>G (p.Phe416Cys)
c.1016T>G (p.Phe339Cys)
c.*871T>G (n.*871T>G)
n.246T>G
c.1142T>G (p.Phe381Cys)
n.1139T>G
c.1125T>G
c.953T>G (p.Phe318Cys)
4g.73418252C>ACA357245033ALBc.1593C>A (p.Phe531Leu)
c.1248C>A (p.Phe416Leu)
c.1017C>A (p.Phe339Leu)
c.*872C>A (n.*872C>A)
n.247C>A
c.1143C>A (p.Phe381Leu)
n.1140C>A
c.1126C>A
c.954C>A (p.Phe318Leu)
dbSNP
4g.73418252C>GCA357245038ALBc.1593C>G (p.Phe531Leu)
c.1248C>G (p.Phe416Leu)
c.1017C>G (p.Phe339Leu)
c.*872C>G (n.*872C>G)
n.247C>G
c.1143C>G (p.Phe381Leu)
n.1140C>G
c.1126C>G
c.954C>G (p.Phe318Leu)
dbSNP
4g.73418252C>TCA439948411ALBc.1593C>T (p.Phe531=)
c.1248C>T (p.Phe416=)
c.1017C>T (p.Phe339=)
c.*872C>T (n.*872C>T)
n.247C>T
c.1143C>T (p.Phe381=)
n.1140C>T
c.1126C>T
c.954C>T (p.Phe318=)
dbSNP COSMIC
4g.73418253A=CA1468146936ALBc.1594A= (p.Thr532=)
c.1249A= (p.Thr417=)
c.1018A= (p.Thr340=)
c.*873A= (n.*873A=)
n.248A=
c.1144A= (p.Thr382=)
n.1141A=
c.1127A=
c.955A= (p.Thr319=)
4g.73418253A>CCA357245045ALBc.1594A>C (p.Thr532Pro)
c.1249A>C (p.Thr417Pro)
c.1018A>C (p.Thr340Pro)
c.*873A>C (n.*873A>C)
n.248A>C
c.1144A>C (p.Thr382Pro)
n.1141A>C
c.1127A>C
c.955A>C (p.Thr319Pro)
gnomAD v4
4g.73418253A>GCA357245052ALBc.1594A>G (p.Thr532Ala)
c.1249A>G (p.Thr417Ala)
c.1018A>G (p.Thr340Ala)
c.*873A>G (n.*873A>G)
n.248A>G
c.1144A>G (p.Thr382Ala)
n.1141A>G
c.1127A>G
c.955A>G (p.Thr319Ala)
4g.73418253A>TCA357245043ALBc.1594A>T (p.Thr532Ser)
c.1249A>T (p.Thr417Ser)
c.1018A>T (p.Thr340Ser)
c.*873A>T (n.*873A>T)
n.248A>T
c.1144A>T (p.Thr382Ser)
n.1141A>T
c.1127A>T
c.955A>T (p.Thr319Ser)
dbSNP
4g.73418254C>ACA357245053ALBc.1595C>A (p.Thr532Asn)
c.1250C>A (p.Thr417Asn)
c.1019C>A (p.Thr340Asn)
c.*874C>A (n.*874C>A)
n.249C>A
c.1145C>A (p.Thr382Asn)
n.1142C>A
c.1128C>A
c.956C>A (p.Thr319Asn)
4g.73418254C>GCA357245054ALBc.1595C>G (p.Thr532Ser)
c.1250C>G (p.Thr417Ser)
c.1019C>G (p.Thr340Ser)
c.*874C>G (n.*874C>G)
n.249C>G
c.1145C>G (p.Thr382Ser)
n.1142C>G
c.1128C>G
c.956C>G (p.Thr319Ser)
dbSNP
4g.73418254C>TCA357245055ALBc.1595C>T (p.Thr532Ile)
c.1250C>T (p.Thr417Ile)
c.1019C>T (p.Thr340Ile)
c.*874C>T (n.*874C>T)
n.249C>T
c.1145C>T (p.Thr382Ile)
n.1142C>T
c.1128C>T
c.956C>T (p.Thr319Ile)
dbSNP
4g.73418255C>ACA439948412ALBc.1596C>A (p.Thr532=)
c.1251C>A (p.Thr417=)
c.1020C>A (p.Thr340=)
c.*875C>A (n.*875C>A)
n.250C>A
c.1146C>A (p.Thr382=)
n.1143C>A
c.1129C>A
c.957C>A (p.Thr319=)
4g.73418255C>GCA439948413ALBc.1596C>G (p.Thr532=)
c.1251C>G (p.Thr417=)
c.1020C>G (p.Thr340=)
c.*875C>G (n.*875C>G)
n.250C>G
c.1146C>G (p.Thr382=)
n.1143C>G
c.1129C>G
c.957C>G (p.Thr319=)
dbSNP
4g.73418255C>TCA439948414ALBc.1596C>T (p.Thr532=)
c.1251C>T (p.Thr417=)
c.1020C>T (p.Thr340=)
c.*875C>T (n.*875C>T)
n.250C>T
c.1146C>T (p.Thr382=)
n.1143C>T
c.1129C>T
c.957C>T (p.Thr319=)
4g.73418256T>ACA357245057ALBc.1597T>A (p.Phe533Ile)
c.1252T>A (p.Phe418Ile)
c.1021T>A (p.Phe341Ile)
c.*876T>A (n.*876T>A)
n.251T>A
c.1147T>A (p.Phe383Ile)
n.1144T>A
c.1130T>A
c.958T>A (p.Phe320Ile)
4g.73418256T>CCA2959689ALBc.1597T>C (p.Phe533Leu)
c.1252T>C (p.Phe418Leu)
c.1021T>C (p.Phe341Leu)
c.*876T>C (n.*876T>C)
n.251T>C
c.1147T>C (p.Phe383Leu)
n.1144T>C
c.1130T>C
c.958T>C (p.Phe320Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.73418256T>GCA357245060ALBc.1597T>G (p.Phe533Val)
c.1252T>G (p.Phe418Val)
c.1021T>G (p.Phe341Val)
c.*876T>G (n.*876T>G)
n.251T>G
c.1147T>G (p.Phe383Val)
n.1144T>G
c.1130T>G
c.958T>G (p.Phe320Val)
4g.73418256T=CA1468146937ALBc.1597T= (p.Phe533=)
c.1252T= (p.Phe418=)
c.1021T= (p.Phe341=)
c.*876T= (n.*876T=)
n.251T=
c.1147T= (p.Phe383=)
n.1144T=
c.1130T=
c.958T= (p.Phe320=)
4g.73418257T>ACA357245063ALBc.1598T>A (p.Phe533Tyr)
c.1253T>A (p.Phe418Tyr)
c.1022T>A (p.Phe341Tyr)
c.*877T>A (n.*877T>A)
n.252T>A
c.1148T>A (p.Phe383Tyr)
n.1145T>A
c.1131T>A
c.959T>A (p.Phe320Tyr)
4g.73418257T>CCA357245069ALBc.1598T>C (p.Phe533Ser)
c.1253T>C (p.Phe418Ser)
c.1022T>C (p.Phe341Ser)
c.*877T>C (n.*877T>C)
n.252T>C
c.1148T>C (p.Phe383Ser)
n.1145T>C
c.1131T>C
c.959T>C (p.Phe320Ser)
4g.73418257T>GCA357245066ALBc.1598T>G (p.Phe533Cys)
c.1253T>G (p.Phe418Cys)
c.1022T>G (p.Phe341Cys)
c.*877T>G (n.*877T>G)
n.252T>G
c.1148T>G (p.Phe383Cys)
n.1145T>G
c.1131T>G
c.959T>G (p.Phe320Cys)
4g.73418258C>ACA357245083ALBc.1599C>A (p.Phe533Leu)
c.1254C>A (p.Phe418Leu)
c.1023C>A (p.Phe341Leu)
c.*878C>A (n.*878C>A)
n.253C>A
c.1149C>A (p.Phe383Leu)
n.1146C>A
c.1132C>A
c.960C>A (p.Phe320Leu)
dbSNP
4g.73418258C=CA1468146940ALBc.1599C= (p.Phe533=)
c.1254C= (p.Phe418=)
c.1023C= (p.Phe341=)
c.*878C= (n.*878C=)
n.253C=
c.1149C= (p.Phe383=)
n.1146C=
c.1132C=
c.960C= (p.Phe320=)
4g.73418258C>GCA2959690ALBc.1599C>G (p.Phe533Leu)
c.1254C>G (p.Phe418Leu)
c.1023C>G (p.Phe341Leu)
c.*878C>G (n.*878C>G)
n.253C>G
c.1149C>G (p.Phe383Leu)
n.1146C>G
c.1132C>G
c.960C>G (p.Phe320Leu)
dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched