Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102840399_102840404delCA16020994PAHc.1314_1315+4del
c.1299_1300+4del
n.976_977+4del
n.418_419+4del
n.829_830+4del
c.1257_1258+4del
ClinVar dbSNP
12g.102840404A>CCA386492921PAHc.1311T>G (p.Ile437Met)
c.1296T>G (p.Ile432Met)
n.973T>G
n.415T>G
n.826T>G
c.1254T>G (p.Ile418Met)
12g.102840404A>GCA481375324PAHc.1311T>C (p.Ile437=)
c.1296T>C (p.Ile432=)
n.973T>C
n.415T>C
n.826T>C
c.1254T>C (p.Ile418=)
12g.102840404A>TCA481375323PAHc.1311T>A (p.Ile437=)
c.1296T>A (p.Ile432=)
n.973T>A
n.415T>A
n.826T>A
c.1254T>A (p.Ile418=)
12g.102840405A>CCA386492922PAHc.1310T>G (p.Ile437Ser)
c.1295T>G (p.Ile432Ser)
n.972T>G
n.414T>G
n.825T>G
c.1253T>G (p.Ile418Ser)
12g.102840405A>GCA386492923PAHc.1310T>C (p.Ile437Thr)
c.1295T>C (p.Ile432Thr)
n.972T>C
n.414T>C
n.825T>C
c.1253T>C (p.Ile418Thr)
12g.102840405A>TCA386492924PAHc.1310T>A (p.Ile437Asn)
c.1295T>A (p.Ile432Asn)
n.972T>A
n.414T>A
n.825T>A
c.1253T>A (p.Ile418Asn)
12g.102840406T>ACA386492925PAHc.1309A>T (p.Ile437Phe)
c.1294A>T (p.Ile432Phe)
n.971A>T
n.413A>T
n.824A>T
c.1252A>T (p.Ile418Phe)
12g.102840406T>CCA386492927PAHc.1309A>G (p.Ile437Val)
c.1294A>G (p.Ile432Val)
n.971A>G
n.413A>G
n.824A>G
c.1252A>G (p.Ile418Val)
12g.102840406T>GCA386492926PAHc.1309A>C (p.Ile437Leu)
c.1294A>C (p.Ile432Leu)
n.971A>C
n.413A>C
n.824A>C
c.1252A>C (p.Ile418Leu)
12g.102840407G>ACA242743413PAHc.1308C>T (p.Ser436=)
c.1293C>T (p.Ser431=)
n.970C>T
n.412C>T
n.823C>T
c.1251C>T (p.Ser417=)
dbSNP COSMIC
12g.102840407G>CCA481375325PAHc.1308C>G (p.Ser436=)
c.1293C>G (p.Ser431=)
n.970C>G
n.412C>G
n.823C>G
c.1251C>G (p.Ser417=)
12g.102840407G=CA2059441470PAHc.1308C= (p.Ser436=)
c.1293C= (p.Ser431=)
n.970C=
n.412C=
n.823C=
c.1251C= (p.Ser417=)
12g.102840407G>TCA481375326PAHc.1308C>A (p.Ser436=)
c.1293C>A (p.Ser431=)
n.970C>A
n.412C>A
n.823C>A
c.1251C>A (p.Ser417=)
12g.102840408G>ACA242743415PAHc.1307C>T (p.Ser436Phe)
c.1292C>T (p.Ser431Phe)
n.969C>T
n.411C>T
n.822C>T
c.1250C>T (p.Ser417Phe)
dbSNP
12g.102840408G>CCA386492928PAHc.1307C>G (p.Ser436Cys)
c.1292C>G (p.Ser431Cys)
n.969C>G
n.411C>G
n.822C>G
c.1250C>G (p.Ser417Cys)
12g.102840408G=CA2059441480PAHc.1307C= (p.Ser436=)
c.1292C= (p.Ser431=)
n.969C=
n.411C=
n.822C=
c.1250C= (p.Ser417=)
12g.102840408G>TCA386492929PAHc.1307C>A (p.Ser436Tyr)
c.1292C>A (p.Ser431Tyr)
n.969C>A
n.411C>A
n.822C>A
c.1250C>A (p.Ser417Tyr)
COSMIC
12g.102840408_102840409delinsGACA2059441483PAHc.1306_1307delinsTC (p.Ser436=)
c.1291_1292delinsTC (p.Ser431=)
n.968_969delinsTC
n.410_411delinsTC
n.821_822delinsTC
c.1249_1250delinsTC (p.Ser417=)
12g.102840409A>CCA386492930PAHc.1306T>G (p.Ser436Ala)
c.1291T>G (p.Ser431Ala)
n.968T>G
n.410T>G
n.821T>G
c.1249T>G (p.Ser417Ala)
12g.102840409A>GCA386492931PAHc.1306T>C (p.Ser436Pro)
c.1291T>C (p.Ser431Pro)
n.968T>C
n.410T>C
n.821T>C
c.1249T>C (p.Ser417Pro)
12g.102840409A>TCA386492932PAHc.1306T>A (p.Ser436Thr)
c.1291T>A (p.Ser431Thr)
n.968T>A
n.410T>A
n.821T>A
c.1249T>A (p.Ser417Thr)
12g.102840410delCA16020991PAHc.1306del (p.Ser436ProfsTer16)
c.1291del (p.Ser431ProfsTer16)
n.968del
n.410del
n.821del
c.1249del (p.Ser417ProfsTer16)
ClinVar dbSNP
12g.102840410A=CA2059441506PAHc.1305T= (p.Asp435=)
c.1290T= (p.Asp430=)
n.967T=
n.409T=
n.820T=
c.1248T= (p.Asp416=)
12g.102840410A>CCA386492933PAHc.1305T>G (p.Asp435Glu)
c.1290T>G (p.Asp430Glu)
n.967T>G
n.409T>G
n.820T>G
c.1248T>G (p.Asp416Glu)
12g.102840410A>GCA481375328PAHc.1305T>C (p.Asp435=)
c.1290T>C (p.Asp430=)
n.967T>C
n.409T>C
n.820T>C
c.1248T>C (p.Asp416=)
12g.102840410A>TCA6748699PAHc.1305T>A (p.Asp435Glu)
c.1290T>A (p.Asp430Glu)
n.967T>A
n.409T>A
n.820T>A
c.1248T>A (p.Asp416Glu)
dbSNP ExAC gnomAD
12g.102840411T>ACA386492936PAHc.1304A>T (p.Asp435Val)
c.1289A>T (p.Asp430Val)
n.966A>T
n.408A>T
n.819A>T
c.1247A>T (p.Asp416Val)
ClinVar
12g.102840411T>CCA386492935PAHc.1304A>G (p.Asp435Gly)
c.1289A>G (p.Asp430Gly)
n.966A>G
n.408A>G
n.819A>G
c.1247A>G (p.Asp416Gly)
12g.102840411T>GCA386492934PAHc.1304A>C (p.Asp435Ala)
c.1289A>C (p.Asp430Ala)
n.966A>C
n.408A>C
n.819A>C
c.1247A>C (p.Asp416Ala)
12g.102840411T=CA2059441507PAHc.1304A= (p.Asp435=)
c.1289A= (p.Asp430=)
n.966A=
n.408A=
n.819A=
c.1247A= (p.Asp416=)
12g.102840412C>ACA386492937PAHc.1303G>T (p.Asp435Tyr)
c.1288G>T (p.Asp430Tyr)
n.965G>T
n.407G>T
n.818G>T
c.1246G>T (p.Asp416Tyr)
12g.102840412C>GCA386492938PAHc.1303G>C (p.Asp435His)
c.1288G>C (p.Asp430His)
n.965G>C
n.407G>C
n.818G>C
c.1246G>C (p.Asp416His)
12g.102840412C>TCA386492939PAHc.1303G>A (p.Asp435Asn)
c.1288G>A (p.Asp430Asn)
n.965G>A
n.407G>A
n.818G>A
c.1246G>A (p.Asp416Asn)
12g.102840413A=CA2059441508PAHc.1302T= (p.Ala434=)
c.1287T= (p.Ala429=)
n.964T=
n.406T=
n.817T=
c.1245T= (p.Ala415=)
12g.102840413A>CCA481375329PAHc.1302T>G (p.Ala434=)
c.1287T>G (p.Ala429=)
n.964T>G
n.406T>G
n.817T>G
c.1245T>G (p.Ala415=)
12g.102840413A>GCA481375330PAHc.1302T>C (p.Ala434=)
c.1287T>C (p.Ala429=)
n.964T>C
n.406T>C
n.817T>C
c.1245T>C (p.Ala415=)
12g.102840413A>TCA481375331PAHc.1302T>A (p.Ala434=)
c.1287T>A (p.Ala429=)
n.964T>A
n.406T>A
n.817T>A
c.1245T>A (p.Ala415=)
12g.102840414G>ACA16020990PAHc.1301C>T (p.Ala434Val)
c.1286C>T (p.Ala429Val)
n.963C>T
n.405C>T
n.816C>T
c.1244C>T (p.Ala415Val)
ClinVar
12g.102840414G>CCA386492940PAHc.1301C>G (p.Ala434Gly)
c.1286C>G (p.Ala429Gly)
n.963C>G
n.405C>G
n.816C>G
c.1244C>G (p.Ala415Gly)
12g.102840414G=CA2059441512PAHc.1301C= (p.Ala434=)
c.1286C= (p.Ala429=)
n.963C=
n.405C=
n.816C=
c.1244C= (p.Ala415=)
12g.102840414G>TCA229427PAHc.1301C>A (p.Ala434Asp)
c.1286C>A (p.Ala429Asp)
n.963C>A
n.405C>A
n.816C>A
c.1244C>A (p.Ala415Asp)
ClinVar dbSNP
12g.102840415C>ACA386492941PAHc.1300G>T (p.Ala434Ser)
c.1285G>T (p.Ala429Ser)
n.962G>T
n.404G>T
n.815G>T
c.1243G>T (p.Ala415Ser)
12g.102840415C=CA2059441515PAHc.1300G= (p.Ala434=)
c.1285G= (p.Ala429=)
n.962G=
n.404G=
n.815G=
c.1243G= (p.Ala415=)
12g.102840415C>GCA386492942PAHc.1300G>C (p.Ala434Pro)
c.1285G>C (p.Ala429Pro)
n.962G>C
n.404G>C
n.815G>C
c.1243G>C (p.Ala415Pro)
12g.102840415C>TCA386492943PAHc.1300G>A (p.Ala434Thr)
c.1285G>A (p.Ala429Thr)
n.962G>A
n.404G>A
n.815G>A
c.1243G>A (p.Ala415Thr)
gnomAD
12g.102840416C>ACA386492944PAHc.1299G>T (p.Leu433Phe)
c.1284G>T (p.Leu428Phe)
n.961G>T
n.403G>T
n.814G>T
c.1242G>T (p.Leu414Phe)
12g.102840416C=CA2059441517PAHc.1299G= (p.Leu433=)
c.1284G= (p.Leu428=)
n.961G=
n.403G=
n.814G=
c.1242G= (p.Leu414=)
12g.102840416C>GCA386492945PAHc.1299G>C (p.Leu433Phe)
c.1284G>C (p.Leu428Phe)
n.961G>C
n.403G>C
n.814G>C
c.1242G>C (p.Leu414Phe)
12g.102840416C>TCA6748700PAHc.1299G>A (p.Leu433=)
c.1284G>A (p.Leu428=)
n.961G>A
n.403G>A
n.814G>A
c.1242G>A (p.Leu414=)
dbSNP ExAC gnomAD

Number of alleles fetched