Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102840395_102840401delCA912973337PAHc.1314_1315+5del
c.1299_1300+5del
n.976_977+5del
n.418_419+5del
n.829_830+5del
c.1257_1258+5del
12g.102840395_102840401delinsCTTACTGCA2059441378PAHc.1314_1315+5delinsCAGTAAG
c.1299_1300+5delinsCAGTAAG
n.976_977+5delinsCAGTAAG
n.418_419+5delinsCAGTAAG
n.829_830+5delinsCAGTAAG
c.1257_1258+5delinsCAGTAAG
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.102840398A=CA2059441420PAHc.1315+2T= (p.=)
c.1300+2T= (p.=)
n.977+2T=
n.419+2T=
n.830+2T=
c.1258+2T= (p.=)
12g.102840398A>CCA386492909PAHc.1315+2T>G (p.=)
c.1300+2T>G (p.=)
n.977+2T>G
n.419+2T>G
n.830+2T>G
c.1258+2T>G (p.=)
12g.102840398A>GCA229429PAHc.1315+2T>C (p.=)
c.1300+2T>C (p.=)
n.977+2T>C
n.419+2T>C
n.830+2T>C
c.1258+2T>C (p.=)
ClinVar dbSNP
12g.102840398A>TCA386492910PAHc.1315+2T>A (p.=)
c.1300+2T>A (p.=)
n.977+2T>A
n.419+2T>A
n.830+2T>A
c.1258+2T>A (p.=)
12g.102840399C>ACA16020993PAHc.1315+1G>T (p.=)
c.1300+1G>T (p.=)
n.977+1G>T
n.419+1G>T
n.830+1G>T
c.1258+1G>T (p.=)
ClinVar dbSNP
12g.102840399C=CA2059441438PAHc.1315+1G= (p.=)
c.1300+1G= (p.=)
n.977+1G=
n.419+1G=
n.830+1G=
c.1258+1G= (p.=)
12g.102840399C>GCA386492911PAHc.1315+1G>C (p.=)
c.1300+1G>C (p.=)
n.977+1G>C
n.419+1G>C
n.830+1G>C
c.1258+1G>C (p.=)
12g.102840399C>TCA251522PAHc.1315+1G>A (p.=)
c.1300+1G>A (p.=)
n.977+1G>A
n.419+1G>A
n.830+1G>A
c.1258+1G>A (p.=)
ClinVar dbSNP ExAC gnomAD
12g.102840400T>ACA386492912PAHc.1315A>T (p.Ser439Cys)
c.1300A>T (p.Ser434Cys)
n.977A>T
n.419A>T
n.830A>T
c.1258A>T (p.Ser420Cys)
12g.102840400T>CCA242743409PAHc.1315A>G (p.Ser439Gly)
c.1300A>G (p.Ser434Gly)
n.977A>G
n.419A>G
n.830A>G
c.1258A>G (p.Ser420Gly)
dbSNP gnomAD
12g.102840400T>GCA386492913PAHc.1315A>C (p.Ser439Arg)
c.1300A>C (p.Ser434Arg)
n.977A>C
n.419A>C
n.830A>C
c.1258A>C (p.Ser420Arg)
12g.102840400T=CA2059441448PAHc.1315A= (p.Ser439=)
c.1300A= (p.Ser434=)
n.977A=
n.419A=
n.830A=
c.1258A= (p.Ser420=)
12g.102840401G>ACA242743411PAHc.1314C>T (p.Asn438=)
c.1299C>T (p.Asn433=)
n.976C>T
n.418C>T
n.829C>T
c.1257C>T (p.Asn419=)
dbSNP
12g.102840401G>CCA386492914PAHc.1314C>G (p.Asn438Lys)
c.1299C>G (p.Asn433Lys)
n.976C>G
n.418C>G
n.829C>G
c.1257C>G (p.Asn419Lys)
12g.102840401G=CA2059441455PAHc.1314C= (p.Asn438=)
c.1299C= (p.Asn433=)
n.976C=
n.418C=
n.829C=
c.1257C= (p.Asn419=)
12g.102840401G>TCA386492915PAHc.1314C>A (p.Asn438Lys)
c.1299C>A (p.Asn433Lys)
n.976C>A
n.418C>A
n.829C>A
c.1257C>A (p.Asn419Lys)
12g.102840402T>ACA386492916PAHc.1313A>T (p.Asn438Ile)
c.1298A>T (p.Asn433Ile)
n.975A>T
n.417A>T
n.828A>T
c.1256A>T (p.Asn419Ile)
12g.102840402T>CCA386492917PAHc.1313A>G (p.Asn438Ser)
c.1298A>G (p.Asn433Ser)
n.975A>G
n.417A>G
n.828A>G
c.1256A>G (p.Asn419Ser)
12g.102840402T>GCA386492918PAHc.1313A>C (p.Asn438Thr)
c.1298A>C (p.Asn433Thr)
n.975A>C
n.417A>C
n.828A>C
c.1256A>C (p.Asn419Thr)
12g.102840403T>ACA386492919PAHc.1312A>T (p.Asn438Tyr)
c.1297A>T (p.Asn433Tyr)
n.974A>T
n.416A>T
n.827A>T
c.1255A>T (p.Asn419Tyr)
12g.102840403T>CCA16020992PAHc.1312A>G (p.Asn438Asp)
c.1297A>G (p.Asn433Asp)
n.974A>G
n.416A>G
n.827A>G
c.1255A>G (p.Asn419Asp)
ClinVar
12g.102840403T>GCA386492920PAHc.1312A>C (p.Asn438His)
c.1297A>C (p.Asn433His)
n.974A>C
n.416A>C
n.827A>C
c.1255A>C (p.Asn419His)
12g.102840403T=CA2059441462PAHc.1312A= (p.Asn438=)
c.1297A= (p.Asn433=)
n.974A=
n.416A=
n.827A=
c.1255A= (p.Asn419=)
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)

Number of alleles fetched