Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.21577373delCA2573130830ALPLc.1310-10del (n.1310-10del)
n.579-10del
c.385-10del
c.1079-10del (n.1079-10del)
c.1145-10del (n.1145-10del)
c.1154-10del (n.1154-10del)
 ClinVar dbSNP
1g.21577373T>CCA2574253223ALPLc.1310-10T>C (n.1310-10T>C)
n.579-10T>C
c.385-10T>C
c.1079-10T>C (n.1079-10T>C)
c.1145-10T>C (n.1145-10T>C)
c.1154-10T>C (n.1154-10T>C)
 gnomAD v4
1g.21577373T>GCA666821ALPLc.1310-10T>G (n.1310-10T>G)
n.579-10T>G
c.385-10T>G
c.1079-10T>G (n.1079-10T>G)
c.1145-10T>G (n.1145-10T>G)
c.1154-10T>G (n.1154-10T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21577373T=CA1158020135ALPLc.1310-10T= (n.1310-10T=)
n.579-10T=
c.385-10T=
c.1079-10T= (n.1079-10T=)
c.1145-10T= (n.1145-10T=)
c.1154-10T= (n.1154-10T=)
1g.21577374G>TCA2643932045ALPLc.1310-9G>T (n.1310-9G>T)
n.579-9G>T
c.385-9G>T
c.1079-9G>T (n.1079-9G>T)
c.1145-9G>T (n.1145-9G>T)
c.1154-9G>T (n.1154-9G>T)
 gnomAD v4
1g.21577375G>ACA521899833ALPLc.1310-8G>A (n.1310-8G>A)
n.579-8G>A
c.385-8G>A
c.1079-8G>A (n.1079-8G>A)
c.1145-8G>A (n.1145-8G>A)
c.1154-8G>A (n.1154-8G>A)
 dbSNP gnomAD v2
1g.21577375G=CA1158020136ALPLc.1310-8G= (n.1310-8G=)
n.579-8G=
c.385-8G=
c.1079-8G= (n.1079-8G=)
c.1145-8G= (n.1145-8G=)
c.1154-8G= (n.1154-8G=)
1g.21577375G>TCA2643932046ALPLc.1310-8G>T (n.1310-8G>T)
n.579-8G>T
c.385-8G>T
c.1079-8G>T (n.1079-8G>T)
c.1145-8G>T (n.1145-8G>T)
c.1154-8G>T (n.1154-8G>T)
 gnomAD v4
1g.21577377C=CA1158020137ALPLc.1310-6C= (n.1310-6C=)
n.579-6C=
c.385-6C=
c.1079-6C= (n.1079-6C=)
c.1145-6C= (n.1145-6C=)
c.1154-6C= (n.1154-6C=)
1g.21577377C>TCA666822ALPLc.1310-6C>T (n.1310-6C>T)
n.579-6C>T
c.385-6C>T
c.1079-6C>T (n.1079-6C>T)
c.1145-6C>T (n.1145-6C>T)
c.1154-6C>T (n.1154-6C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21577378C=CA1158020138ALPLc.1310-5C= (n.1310-5C=)
n.579-5C=
c.385-5C=
c.1079-5C= (n.1079-5C=)
c.1145-5C= (n.1145-5C=)
c.1154-5C= (n.1154-5C=)
1g.21577378C>TCA666823ALPLc.1310-5C>T (n.1310-5C>T)
n.579-5C>T
c.385-5C>T
c.1079-5C>T (n.1079-5C>T)
c.1145-5C>T (n.1145-5C>T)
c.1154-5C>T (n.1154-5C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21577380C=CA1158020139ALPLc.1310-3C= (n.1310-3C=)
n.579-3C=
c.385-3C=
c.1079-3C= (n.1079-3C=)
c.1145-3C= (n.1145-3C=)
c.1154-3C= (n.1154-3C=)
1g.21577380C>TCA999411626ALPLc.1310-3C>T (n.1310-3C>T)
n.579-3C>T
c.385-3C>T
c.1079-3C>T (n.1079-3C>T)
c.1145-3C>T (n.1145-3C>T)
c.1154-3C>T (n.1154-3C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.21577381A>CCA338881922ALPLc.1310-2A>C (n.1310-2A>C)
n.579-2A>C
c.385-2A>C
c.1079-2A>C (n.1079-2A>C)
c.1145-2A>C (n.1145-2A>C)
c.1154-2A>C (n.1154-2A>C)
 ClinVar
1g.21577381A>GCA338881923ALPLc.1310-2A>G (n.1310-2A>G)
n.579-2A>G
c.385-2A>G
c.1079-2A>G (n.1079-2A>G)
c.1145-2A>G (n.1145-2A>G)
c.1154-2A>G (n.1154-2A>G)
1g.21577381A>TCA338881921ALPLc.1310-2A>T (n.1310-2A>T)
n.579-2A>T
c.385-2A>T
c.1079-2A>T (n.1079-2A>T)
c.1145-2A>T (n.1145-2A>T)
c.1154-2A>T (n.1154-2A>T)
1g.21577382G>ACA338881924ALPLc.1310-1G>A (n.1310-1G>A)
n.579-1G>A
c.385-1G>A
c.1079-1G>A (n.1079-1G>A)
c.1145-1G>A (n.1145-1G>A)
c.1154-1G>A (n.1154-1G>A)
 gnomAD v4
1g.21577382G>CCA338881925ALPLc.1310-1G>C (n.1310-1G>C)
n.579-1G>C
c.385-1G>C
c.1079-1G>C (n.1079-1G>C)
c.1145-1G>C (n.1145-1G>C)
c.1154-1G>C (n.1154-1G>C)
1g.21577382G>TCA338881926ALPLc.1310-1G>T (n.1310-1G>T)
n.579-1G>T
c.385-1G>T
c.1079-1G>T (n.1079-1G>T)
c.1145-1G>T (n.1145-1G>T)
c.1154-1G>T (n.1154-1G>T)
 gnomAD v4
1g.21577383C>ACA338881927ALPLc.1310C>A (p.Ala437Asp)
n.579C>A
c.385C>A
c.1079C>A (p.Ala360Asp)
c.1145C>A (p.Ala382Asp)
c.1154C>A (p.Ala385Asp)
1g.21577383C=CA1158020140ALPLc.1310C= (p.Ala437=)
n.579C=
c.385C=
c.1079C= (p.Ala360=)
c.1145C= (p.Ala382=)
c.1154C= (p.Ala385=)
1g.21577383C>GCA338881928ALPLc.1310C>G (p.Ala437Gly)
n.579C>G
c.385C>G
c.1079C>G (p.Ala360Gly)
c.1145C>G (p.Ala382Gly)
c.1154C>G (p.Ala385Gly)
1g.21577383C>TCA338881929ALPLc.1310C>T (p.Ala437Val)
n.579C>T
c.385C>T
c.1079C>T (p.Ala360Val)
c.1145C>T (p.Ala382Val)
c.1154C>T (p.Ala385Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21577384T>ACA416677494ALPLc.1311T>A (p.Ala437=)
n.580T>A
c.386T>A
c.1080T>A (p.Ala360=)
c.1146T>A (p.Ala382=)
c.1155T>A (p.Ala385=)
1g.21577384T>CCA19071973ALPLc.1311T>C (p.Ala437=)
n.580T>C
c.386T>C
c.1080T>C (p.Ala360=)
c.1146T>C (p.Ala382=)
c.1155T>C (p.Ala385=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21577384T>GCA416677493ALPLc.1311T>G (p.Ala437=)
n.580T>G
c.386T>G
c.1080T>G (p.Ala360=)
c.1146T>G (p.Ala382=)
c.1155T>G (p.Ala385=)
1g.21577384T=CA1158020141ALPLc.1311T= (p.Ala437=)
n.580T=
c.386T=
c.1080T= (p.Ala360=)
c.1146T= (p.Ala382=)
c.1155T= (p.Ala385=)
1g.21577385C>ACA338881930ALPLc.1312C>A (p.His438Asn)
n.581C>A
c.387C>A
c.1081C>A (p.His361Asn)
c.1147C>A (p.His383Asn)
c.1156C>A (p.His386Asn)
1g.21577385C>GCA338881931ALPLc.1312C>G (p.His438Asp)
n.581C>G
c.387C>G
c.1081C>G (p.His361Asp)
c.1147C>G (p.His383Asp)
c.1156C>G (p.His386Asp)
 gnomAD v4
1g.21577385C>TCA338881932ALPLc.1312C>T (p.His438Tyr)
n.581C>T
c.387C>T
c.1081C>T (p.His361Tyr)
c.1147C>T (p.His383Tyr)
c.1156C>T (p.His386Tyr)
 COSMIC
1g.21577385_21577388delinsCACACA1158020142ALPLc.1312_1315delinsCACA (p.His438=)
n.581_584delinsCACA
c.387_390delinsCACA
c.1081_1084delinsCACA (p.His361=)
c.1147_1150delinsCACA (p.His383=)
c.1156_1159delinsCACA (p.His386=)
1g.21577386delCA2643932047ALPLc.1313del (p.His438ProfsTer?)
n.582del
c.388del
c.1082del (p.His361ProfsTer?)
c.1148del (p.His383ProfsTer?)
c.1157del (p.His386ProfsTer?)
 gnomAD v4
1g.21577386A>CCA338881933ALPLc.1313A>C (p.His438Pro)
n.582A>C
c.388A>C
c.1082A>C (p.His361Pro)
c.1148A>C (p.His383Pro)
c.1157A>C (p.His386Pro)
1g.21577386A>GCA338881934ALPLc.1313A>G (p.His438Arg)
n.582A>G
c.388A>G
c.1082A>G (p.His361Arg)
c.1148A>G (p.His383Arg)
c.1157A>G (p.His386Arg)
 gnomAD v4
1g.21577386A>TCA338881935ALPLc.1313A>T (p.His438Leu)
n.582A>T
c.388A>T
c.1082A>T (p.His361Leu)
c.1148A>T (p.His383Leu)
c.1157A>T (p.His386Leu)
 gnomAD v4
1g.21577391_21577393delCA666824ALPLc.1318_1320del (p.Asn440del)
n.587_589del
c.393_395del
c.1087_1089del (p.Asn363del)
c.1153_1155del (p.Asn385del)
c.1162_1164del (p.Asn388del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21577387C>ACA338881937ALPLc.1314C>A (p.His438Gln)
n.583C>A
c.389C>A
c.1083C>A (p.His361Gln)
c.1149C>A (p.His383Gln)
c.1158C>A (p.His386Gln)
1g.21577387C=CA1158020143ALPLc.1314C= (p.His438=)
n.583C=
c.389C=
c.1083C= (p.His361=)
c.1149C= (p.His383=)
c.1158C= (p.His386=)
1g.21577387C>GCA338881936ALPLc.1314C>G (p.His438Gln)
n.583C>G
c.389C>G
c.1083C>G (p.His361Gln)
c.1149C>G (p.His383Gln)
c.1158C>G (p.His386Gln)
 gnomAD v4
1g.21577387C>TCA19071979ALPLc.1314C>T (p.His438=)
n.583C>T
c.389C>T
c.1083C>T (p.His361=)
c.1149C>T (p.His383=)
c.1158C>T (p.His386=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21577388A>CCA338881938ALPLc.1315A>C (p.Asn439His)
n.584A>C
c.390A>C
c.1084A>C (p.Asn362His)
c.1150A>C (p.Asn384His)
c.1159A>C (p.Asn387His)
1g.21577388A>GCA338881939ALPLc.1315A>G (p.Asn439Asp)
n.584A>G
c.390A>G
c.1084A>G (p.Asn362Asp)
c.1150A>G (p.Asn384Asp)
c.1159A>G (p.Asn387Asp)
1g.21577388A>TCA338881940ALPLc.1315A>T (p.Asn439Tyr)
n.584A>T
c.390A>T
c.1084A>T (p.Asn362Tyr)
c.1150A>T (p.Asn384Tyr)
c.1159A>T (p.Asn387Tyr)
1g.21577389A=CA1143595077ALPLc.1316A= (p.Asn439=)
n.585A=
c.391A=
c.1085A= (p.Asn362=)
c.1151A= (p.Asn384=)
c.1160A= (p.Asn387=)
1g.21577389A>CCA338881941ALPLc.1316A>C (p.Asn439Thr)
n.585A>C
c.391A>C
c.1085A>C (p.Asn362Thr)
c.1151A>C (p.Asn384Thr)
c.1160A>C (p.Asn387Thr)
1g.21577389A>GCA19071984ALPLc.1316A>G (p.Asn439Ser)
n.585A>G
c.391A>G
c.1085A>G (p.Asn362Ser)
c.1151A>G (p.Asn384Ser)
c.1160A>G (p.Asn387Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.21577389A>TCA338881942ALPLc.1316A>T (p.Asn439Ile)
n.585A>T
c.391A>T
c.1085A>T (p.Asn362Ile)
c.1151A>T (p.Asn384Ile)
c.1160A>T (p.Asn387Ile)
1g.21577390C>ACA338881943ALPLc.1317C>A (p.Asn439Lys)
n.586C>A
c.392C>A
c.1086C>A (p.Asn362Lys)
c.1152C>A (p.Asn384Lys)
c.1161C>A (p.Asn387Lys)
1g.21577390C=CA1158020144ALPLc.1317C= (p.Asn439=)
n.586C=
c.392C=
c.1086C= (p.Asn362=)
c.1152C= (p.Asn384=)
c.1161C= (p.Asn387=)
1g.21577390C>GCA338881944ALPLc.1317C>G (p.Asn439Lys)
n.586C>G
c.392C>G
c.1086C>G (p.Asn362Lys)
c.1152C>G (p.Asn384Lys)
c.1161C>G (p.Asn387Lys)
1g.21577390C>TCA416677495ALPLc.1317C>T (p.Asn439=)
n.586C>T
c.392C>T
c.1086C>T (p.Asn362=)
c.1152C>T (p.Asn384=)
c.1161C>T (p.Asn387=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21577391A>CCA338881945ALPLc.1318A>C (p.Asn440His)
n.587A>C
c.393A>C
c.1087A>C (p.Asn363His)
c.1153A>C (p.Asn385His)
c.1162A>C (p.Asn388His)
1g.21577391A>GCA338881946ALPLc.1318A>G (p.Asn440Asp)
n.587A>G
c.393A>G
c.1087A>G (p.Asn363Asp)
c.1153A>G (p.Asn385Asp)
c.1162A>G (p.Asn388Asp)
1g.21577391A>TCA338881947ALPLc.1318A>T (p.Asn440Tyr)
n.587A>T
c.393A>T
c.1087A>T (p.Asn363Tyr)
c.1153A>T (p.Asn385Tyr)
c.1162A>T (p.Asn388Tyr)
1g.21577392A>CCA338881948ALPLc.1319A>C (p.Asn440Thr)
n.588A>C
c.394A>C
c.1088A>C (p.Asn363Thr)
c.1154A>C (p.Asn385Thr)
c.1163A>C (p.Asn388Thr)
1g.21577392A>GCA338881949ALPLc.1319A>G (p.Asn440Ser)
n.588A>G
c.394A>G
c.1088A>G (p.Asn363Ser)
c.1154A>G (p.Asn385Ser)
c.1163A>G (p.Asn388Ser)
1g.21577392A>TCA338881950ALPLc.1319A>T (p.Asn440Ile)
n.588A>T
c.394A>T
c.1088A>T (p.Asn363Ile)
c.1154A>T (p.Asn385Ile)
c.1163A>T (p.Asn388Ile)
1g.21577393C>ACA338881951ALPLc.1320C>A (p.Asn440Lys)
n.589C>A
c.395C>A
c.1089C>A (p.Asn363Lys)
c.1155C>A (p.Asn385Lys)
c.1164C>A (p.Asn388Lys)
1g.21577393C>GCA338881952ALPLc.1320C>G (p.Asn440Lys)
n.589C>G
c.395C>G
c.1089C>G (p.Asn363Lys)
c.1155C>G (p.Asn385Lys)
c.1164C>G (p.Asn388Lys)
1g.21577393C>TCA416677496ALPLc.1320C>T (p.Asn440=)
n.589C>T
c.395C>T
c.1089C>T (p.Asn363=)
c.1155C>T (p.Asn385=)
c.1164C>T (p.Asn388=)
 ClinVar
1g.21577394T>ACA338881953ALPLc.1321T>A (p.Tyr441Asn)
n.590T>A
c.396T>A
c.1090T>A (p.Tyr364Asn)
c.1156T>A (p.Tyr386Asn)
c.1165T>A (p.Tyr389Asn)
1g.21577394T>CCA338881954ALPLc.1321T>C (p.Tyr441His)
n.590T>C
c.396T>C
c.1090T>C (p.Tyr364His)
c.1156T>C (p.Tyr386His)
c.1165T>C (p.Tyr389His)
1g.21577394T>GCA338881955ALPLc.1321T>G (p.Tyr441Asp)
n.590T>G
c.396T>G
c.1090T>G (p.Tyr364Asp)
c.1156T>G (p.Tyr386Asp)
c.1165T>G (p.Tyr389Asp)
1g.21577395A>CCA338881956ALPLc.1322A>C (p.Tyr441Ser)
n.591A>C
c.397A>C
c.1091A>C (p.Tyr364Ser)
c.1157A>C (p.Tyr386Ser)
c.1166A>C (p.Tyr389Ser)
 ClinVar
1g.21577395A>GCA338881957ALPLc.1322A>G (p.Tyr441Cys)
n.591A>G
c.397A>G
c.1091A>G (p.Tyr364Cys)
c.1157A>G (p.Tyr386Cys)
c.1166A>G (p.Tyr389Cys)
1g.21577395A>TCA338881958ALPLc.1322A>T (p.Tyr441Phe)
n.591A>T
c.397A>T
c.1091A>T (p.Tyr364Phe)
c.1157A>T (p.Tyr386Phe)
c.1166A>T (p.Tyr389Phe)
1g.21577396C>ACA338881959ALPLc.1323C>A (p.Tyr441Ter)
n.592C>A
c.398C>A
c.1092C>A (p.Tyr364Ter)
c.1158C>A (p.Tyr386Ter)
c.1167C>A (p.Tyr389Ter)
1g.21577396C=CA1158020145ALPLc.1323C= (p.Tyr441=)
n.592C=
c.398C=
c.1092C= (p.Tyr364=)
c.1158C= (p.Tyr386=)
c.1167C= (p.Tyr389=)
1g.21577396C>GCA338881960ALPLc.1323C>G (p.Tyr441Ter)
n.592C>G
c.398C>G
c.1092C>G (p.Tyr364Ter)
c.1158C>G (p.Tyr386Ter)
c.1167C>G (p.Tyr389Ter)
1g.21577396C>TCA416677497ALPLc.1323C>T (p.Tyr441=)
n.592C>T
c.398C>T
c.1092C>T (p.Tyr364=)
c.1158C>T (p.Tyr386=)
c.1167C>T (p.Tyr389=)
 ClinVar dbSNP
1g.21577397C>ACA338881961ALPLc.1324C>A (p.Gln442Lys)
n.593C>A
c.399C>A
c.1093C>A (p.Gln365Lys)
c.1159C>A (p.Gln387Lys)
c.1168C>A (p.Gln390Lys)
1g.21577397C=CA1158020146ALPLc.1324C= (p.Gln442=)
n.593C=
c.399C=
c.1093C= (p.Gln365=)
c.1159C= (p.Gln387=)
c.1168C= (p.Gln390=)
1g.21577397C>GCA338881963ALPLc.1324C>G (p.Gln442Glu)
n.593C>G
c.399C>G
c.1093C>G (p.Gln365Glu)
c.1159C>G (p.Gln387Glu)
c.1168C>G (p.Gln390Glu)
1g.21577397C>TCA338881962ALPLc.1324C>T (p.Gln442Ter)
n.593C>T
c.399C>T
c.1093C>T (p.Gln365Ter)
c.1159C>T (p.Gln387Ter)
c.1168C>T (p.Gln390Ter)
 ClinVar dbSNP
1g.21577398A>CCA338881964ALPLc.1325A>C (p.Gln442Pro)
n.594A>C
c.400A>C
c.1094A>C (p.Gln365Pro)
c.1160A>C (p.Gln387Pro)
c.1169A>C (p.Gln390Pro)
1g.21577398A>GCA338881965ALPLc.1325A>G (p.Gln442Arg)
n.594A>G
c.400A>G
c.1094A>G (p.Gln365Arg)
c.1160A>G (p.Gln387Arg)
c.1169A>G (p.Gln390Arg)
1g.21577398A>TCA338881966ALPLc.1325A>T (p.Gln442Leu)
n.594A>T
c.400A>T
c.1094A>T (p.Gln365Leu)
c.1160A>T (p.Gln387Leu)
c.1169A>T (p.Gln390Leu)
1g.21577399G>ACA416677498ALPLc.1326G>A (p.Gln442=)
n.595G>A
c.401G>A
c.1095G>A (p.Gln365=)
c.1161G>A (p.Gln387=)
c.1170G>A (p.Gln390=)
1g.21577399G>CCA338881967ALPLc.1326G>C (p.Gln442His)
n.595G>C
c.401G>C
c.1095G>C (p.Gln365His)
c.1161G>C (p.Gln387His)
c.1170G>C (p.Gln390His)
1g.21577399G>TCA338881968ALPLc.1326G>T (p.Gln442His)
n.595G>T
c.401G>T
c.1095G>T (p.Gln365His)
c.1161G>T (p.Gln387His)
c.1170G>T (p.Gln390His)
 gnomAD v4
1g.21577400G>ACA338881969ALPLc.1327G>A (p.Ala443Thr)
n.596G>A
c.402G>A
c.1096G>A (p.Ala366Thr)
c.1162G>A (p.Ala388Thr)
c.1171G>A (p.Ala391Thr)
 ClinVar
1g.21577400G>CCA338881971ALPLc.1327G>C (p.Ala443Pro)
n.596G>C
c.402G>C
c.1096G>C (p.Ala366Pro)
c.1162G>C (p.Ala388Pro)
c.1171G>C (p.Ala391Pro)
1g.21577400G>TCA338881970ALPLc.1327G>T (p.Ala443Ser)
n.596G>T
c.402G>T
c.1096G>T (p.Ala366Ser)
c.1162G>T (p.Ala388Ser)
c.1171G>T (p.Ala391Ser)
1g.21577401C>ACA666826ALPLc.1328C>A (p.Ala443Glu)
n.597C>A
c.403C>A
c.1097C>A (p.Ala366Glu)
c.1163C>A (p.Ala388Glu)
c.1172C>A (p.Ala391Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21577401C=CA1158020147ALPLc.1328C= (p.Ala443=)
n.597C=
c.403C=
c.1097C= (p.Ala366=)
c.1163C= (p.Ala388=)
c.1172C= (p.Ala391=)
1g.21577401C>GCA666825ALPLc.1328C>G (p.Ala443Gly)
n.597C>G
c.403C>G
c.1097C>G (p.Ala366Gly)
c.1163C>G (p.Ala388Gly)
c.1172C>G (p.Ala391Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21577401C>TCA338881972ALPLc.1328C>T (p.Ala443Val)
n.597C>T
c.403C>T
c.1097C>T (p.Ala366Val)
c.1163C>T (p.Ala388Val)
c.1172C>T (p.Ala391Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21577402G>ACA666827ALPLc.1329G>A (p.Ala443=)
n.598G>A
c.404G>A
c.1098G>A (p.Ala366=)
c.1164G>A (p.Ala388=)
c.1173G>A (p.Ala391=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21577402G>CCA416677500ALPLc.1329G>C (p.Ala443=)
n.598G>C
c.404G>C
c.1098G>C (p.Ala366=)
c.1164G>C (p.Ala388=)
c.1173G>C (p.Ala391=)
 ClinVar dbSNP
1g.21577402G=CA1158020148ALPLc.1329G= (p.Ala443=)
n.598G=
c.404G=
c.1098G= (p.Ala366=)
c.1164G= (p.Ala388=)
c.1173G= (p.Ala391=)
1g.21577402G>TCA416677499ALPLc.1329G>T (p.Ala443=)
n.598G>T
c.404G>T
c.1098G>T (p.Ala366=)
c.1164G>T (p.Ala388=)
c.1173G>T (p.Ala391=)
 ClinVar dbSNP
1g.21577403C>ACA338881973ALPLc.1330C>A (p.Gln444Lys)
n.599C>A
c.405C>A
c.1099C>A (p.Gln367Lys)
c.1165C>A (p.Gln389Lys)
c.1174C>A (p.Gln392Lys)
1g.21577403C>GCA338881974ALPLc.1330C>G (p.Gln444Glu)
n.599C>G
c.405C>G
c.1099C>G (p.Gln367Glu)
c.1165C>G (p.Gln389Glu)
c.1174C>G (p.Gln392Glu)
1g.21577403C>TCA338881975ALPLc.1330C>T (p.Gln444Ter)
n.599C>T
c.405C>T
c.1099C>T (p.Gln367Ter)
c.1165C>T (p.Gln389Ter)
c.1174C>T (p.Gln392Ter)
1g.21577404A=CA1158020149ALPLc.1331A= (p.Gln444=)
n.600A=
c.406A=
c.1100A= (p.Gln367=)
c.1166A= (p.Gln389=)
c.1175A= (p.Gln392=)
1g.21577404A>CCA338881976ALPLc.1331A>C (p.Gln444Pro)
n.600A>C
c.406A>C
c.1100A>C (p.Gln367Pro)
c.1166A>C (p.Gln389Pro)
c.1175A>C (p.Gln392Pro)
1g.21577404A>GCA338881977ALPLc.1331A>G (p.Gln444Arg)
n.600A>G
c.406A>G
c.1100A>G (p.Gln367Arg)
c.1166A>G (p.Gln389Arg)
c.1175A>G (p.Gln392Arg)
 ClinVar dbSNP
1g.21577404A>TCA338881978ALPLc.1331A>T (p.Gln444Leu)
n.600A>T
c.406A>T
c.1100A>T (p.Gln367Leu)
c.1166A>T (p.Gln389Leu)
c.1175A>T (p.Gln392Leu)
1g.21577405G>ACA416677501ALPLc.1332G>A (p.Gln444=)
n.601G>A
c.407G>A
c.1101G>A (p.Gln367=)
c.1167G>A (p.Gln389=)
c.1176G>A (p.Gln392=)
1g.21577405G>CCA338881979ALPLc.1332G>C (p.Gln444His)
n.601G>C
c.407G>C
c.1101G>C (p.Gln367His)
c.1167G>C (p.Gln389His)
c.1176G>C (p.Gln392His)
1g.21577405G>TCA338881980ALPLc.1332G>T (p.Gln444His)
n.601G>T
c.407G>T
c.1101G>T (p.Gln367His)
c.1167G>T (p.Gln389His)
c.1176G>T (p.Gln392His)
 gnomAD v4
1g.21577406T>ACA338881983ALPLc.1333T>A (p.Ser445Thr)
n.602T>A
c.408T>A
c.1102T>A (p.Ser368Thr)
c.1168T>A (p.Ser390Thr)
c.1177T>A (p.Ser393Thr)
 ClinVar dbSNP
1g.21577406T>CCA338881981ALPLc.1333T>C (p.Ser445Pro)
n.602T>C
c.408T>C
c.1102T>C (p.Ser368Pro)
c.1168T>C (p.Ser390Pro)
c.1177T>C (p.Ser393Pro)
 ClinVar dbSNP gnomAD v4
1g.21577406T>GCA338881982ALPLc.1333T>G (p.Ser445Ala)
n.602T>G
c.408T>G
c.1102T>G (p.Ser368Ala)
c.1168T>G (p.Ser390Ala)
c.1177T>G (p.Ser393Ala)
1g.21577406T=CA1158020150ALPLc.1333T= (p.Ser445=)
n.602T=
c.408T=
c.1102T= (p.Ser368=)
c.1168T= (p.Ser390=)
c.1177T= (p.Ser393=)
1g.21577407C>ACA338881984ALPLc.1334C>A (p.Ser445Tyr)
n.603C>A
c.409C>A
c.1103C>A (p.Ser368Tyr)
c.1169C>A (p.Ser390Tyr)
c.1178C>A (p.Ser393Tyr)
1g.21577407C=CA1158020151ALPLc.1334C= (p.Ser445=)
n.603C=
c.409C=
c.1103C= (p.Ser368=)
c.1169C= (p.Ser390=)
c.1178C= (p.Ser393=)
1g.21577407C>GCA338881985ALPLc.1334C>G (p.Ser445Cys)
n.603C>G
c.409C>G
c.1103C>G (p.Ser368Cys)
c.1169C>G (p.Ser390Cys)
c.1178C>G (p.Ser393Cys)
 dbSNP gnomAD v3 gnomAD v4
1g.21577407C>TCA338881986ALPLc.1334C>T (p.Ser445Phe)
n.603C>T
c.409C>T
c.1103C>T (p.Ser368Phe)
c.1169C>T (p.Ser390Phe)
c.1178C>T (p.Ser393Phe)
1g.21577408T>ACA416677502ALPLc.1335T>A (p.Ser445=)
n.604T>A
c.410T>A
c.1104T>A (p.Ser368=)
c.1170T>A (p.Ser390=)
c.1179T>A (p.Ser393=)
1g.21577408T>CCA416677504ALPLc.1335T>C (p.Ser445=)
n.604T>C
c.410T>C
c.1104T>C (p.Ser368=)
c.1170T>C (p.Ser390=)
c.1179T>C (p.Ser393=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21577408T>GCA416677503ALPLc.1335T>G (p.Ser445=)
n.604T>G
c.410T>G
c.1104T>G (p.Ser368=)
c.1170T>G (p.Ser390=)
c.1179T>G (p.Ser393=)
1g.21577408T=CA1158020152ALPLc.1335T= (p.Ser445=)
n.604T=
c.410T=
c.1104T= (p.Ser368=)
c.1170T= (p.Ser390=)
c.1179T= (p.Ser393=)
1g.21577409G>ACA338881987ALPLc.1336G>A (p.Ala446Thr)
n.605G>A
c.411G>A
c.1105G>A (p.Ala369Thr)
c.1171G>A (p.Ala391Thr)
c.1180G>A (p.Ala394Thr)
 ClinVar dbSNP
1g.21577409G>CCA338881988ALPLc.1336G>C (p.Ala446Pro)
n.605G>C
c.411G>C
c.1105G>C (p.Ala369Pro)
c.1171G>C (p.Ala391Pro)
c.1180G>C (p.Ala394Pro)
1g.21577409G>TCA338881989ALPLc.1336G>T (p.Ala446Ser)
n.605G>T
c.411G>T
c.1105G>T (p.Ala369Ser)
c.1171G>T (p.Ala391Ser)
c.1180G>T (p.Ala394Ser)
1g.21577410C>ACA338881992ALPLc.1337C>A (p.Ala446Asp)
n.606C>A
c.412C>A
c.1106C>A (p.Ala369Asp)
c.1172C>A (p.Ala391Asp)
c.1181C>A (p.Ala394Asp)
1g.21577410C>GCA338881991ALPLc.1337C>G (p.Ala446Gly)
n.606C>G
c.412C>G
c.1106C>G (p.Ala369Gly)
c.1172C>G (p.Ala391Gly)
c.1181C>G (p.Ala394Gly)
1g.21577410C>TCA338881990ALPLc.1337C>T (p.Ala446Val)
n.606C>T
c.412C>T
c.1106C>T (p.Ala369Val)
c.1172C>T (p.Ala391Val)
c.1181C>T (p.Ala394Val)
1g.21577411T>ACA416677507ALPLc.1338T>A (p.Ala446=)
n.607T>A
c.413T>A
c.1107T>A (p.Ala369=)
c.1173T>A (p.Ala391=)
c.1182T>A (p.Ala394=)
1g.21577411T>CCA416677505ALPLc.1338T>C (p.Ala446=)
n.607T>C
c.413T>C
c.1107T>C (p.Ala369=)
c.1173T>C (p.Ala391=)
c.1182T>C (p.Ala394=)
1g.21577411T>GCA416677506ALPLc.1338T>G (p.Ala446=)
n.607T>G
c.413T>G
c.1107T>G (p.Ala369=)
c.1173T>G (p.Ala391=)
c.1182T>G (p.Ala394=)
1g.21577412G>ACA338881993ALPLc.1339G>A (p.Val447Met)
n.608G>A
c.414G>A
c.1108G>A (p.Val370Met)
c.1174G>A (p.Val392Met)
c.1183G>A (p.Val395Met)
 dbSNP
1g.21577412G>CCA338881994ALPLc.1339G>C (p.Val447Leu)
n.608G>C
c.414G>C
c.1108G>C (p.Val370Leu)
c.1174G>C (p.Val392Leu)
c.1183G>C (p.Val395Leu)
 gnomAD v4
1g.21577412G=CA1158020153ALPLc.1339G= (p.Val447=)
n.608G=
c.414G=
c.1108G= (p.Val370=)
c.1174G= (p.Val392=)
c.1183G= (p.Val395=)
1g.21577412G>TCA338881995ALPLc.1339G>T (p.Val447Leu)
n.608G>T
c.414G>T
c.1108G>T (p.Val370Leu)
c.1174G>T (p.Val392Leu)
c.1183G>T (p.Val395Leu)
1g.21577413T>ACA338881996ALPLc.1340T>A (p.Val447Glu)
n.609T>A
c.415T>A
c.1109T>A (p.Val370Glu)
c.1175T>A (p.Val392Glu)
c.1184T>A (p.Val395Glu)
1g.21577413T>CCA338881997ALPLc.1340T>C (p.Val447Ala)
n.609T>C
c.415T>C
c.1109T>C (p.Val370Ala)
c.1175T>C (p.Val392Ala)
c.1184T>C (p.Val395Ala)
 ClinVar dbSNP
1g.21577413T>GCA338881998ALPLc.1340T>G (p.Val447Gly)
n.609T>G
c.415T>G
c.1109T>G (p.Val370Gly)
c.1175T>G (p.Val392Gly)
c.1184T>G (p.Val395Gly)
 dbSNP
1g.21577413T=CA1158020154ALPLc.1340T= (p.Val447=)
n.609T=
c.415T=
c.1109T= (p.Val370=)
c.1175T= (p.Val392=)
c.1184T= (p.Val395=)
1g.21577414G>ACA416677509ALPLc.1341G>A (p.Val447=)
n.610G>A
c.416G>A
c.1110G>A (p.Val370=)
c.1176G>A (p.Val392=)
c.1185G>A (p.Val395=)
1g.21577414G>CCA416677510ALPLc.1341G>C (p.Val447=)
n.610G>C
c.416G>C
c.1110G>C (p.Val370=)
c.1176G>C (p.Val392=)
c.1185G>C (p.Val395=)
1g.21577414G>TCA416677508ALPLc.1341G>T (p.Val447=)
n.610G>T
c.416G>T
c.1110G>T (p.Val370=)
c.1176G>T (p.Val392=)
c.1185G>T (p.Val395=)
 gnomAD v4
1g.21577415C>ACA19071995ALPLc.1342C>A (p.Pro448Thr)
n.611C>A
c.417C>A
c.1111C>A (p.Pro371Thr)
c.1177C>A (p.Pro393Thr)
c.1186C>A (p.Pro396Thr)
 dbSNP
1g.21577415C=CA1158020155ALPLc.1342C= (p.Pro448=)
n.611C=
c.417C=
c.1111C= (p.Pro371=)
c.1177C= (p.Pro393=)
c.1186C= (p.Pro396=)
1g.21577415C>GCA338882000ALPLc.1342C>G (p.Pro448Ala)
n.611C>G
c.417C>G
c.1111C>G (p.Pro371Ala)
c.1177C>G (p.Pro393Ala)
c.1186C>G (p.Pro396Ala)
1g.21577415C>TCA338881999ALPLc.1342C>T (p.Pro448Ser)
n.611C>T
c.417C>T
c.1111C>T (p.Pro371Ser)
c.1177C>T (p.Pro393Ser)
c.1186C>T (p.Pro396Ser)
1g.21577416C>ACA338882001ALPLc.1343C>A (p.Pro448His)
n.612C>A
c.418C>A
c.1112C>A (p.Pro371His)
c.1178C>A (p.Pro393His)
c.1187C>A (p.Pro396His)
1g.21577416C=CA1158020156ALPLc.1343C= (p.Pro448=)
n.612C=
c.418C=
c.1112C= (p.Pro371=)
c.1178C= (p.Pro393=)
c.1187C= (p.Pro396=)
1g.21577416C>GCA338882002ALPLc.1343C>G (p.Pro448Arg)
n.612C>G
c.418C>G
c.1112C>G (p.Pro371Arg)
c.1178C>G (p.Pro393Arg)
c.1187C>G (p.Pro396Arg)
1g.21577416C>TCA338882003ALPLc.1343C>T (p.Pro448Leu)
n.612C>T
c.418C>T
c.1112C>T (p.Pro371Leu)
c.1178C>T (p.Pro393Leu)
c.1187C>T (p.Pro396Leu)
 ClinVar dbSNP
1g.21577417C>ACA416677511ALPLc.1344C>A (p.Pro448=)
n.613C>A
c.419C>A
c.1113C>A (p.Pro371=)
c.1179C>A (p.Pro393=)
c.1188C>A (p.Pro396=)
1g.21577417C=CA1158020157ALPLc.1344C= (p.Pro448=)
n.613C=
c.419C=
c.1113C= (p.Pro371=)
c.1179C= (p.Pro393=)
c.1188C= (p.Pro396=)
1g.21577417C>GCA416677513ALPLc.1344C>G (p.Pro448=)
n.613C>G
c.419C>G
c.1113C>G (p.Pro371=)
c.1179C>G (p.Pro393=)
c.1188C>G (p.Pro396=)
1g.21577417C>TCA416677512ALPLc.1344C>T (p.Pro448=)
n.613C>T
c.419C>T
c.1113C>T (p.Pro371=)
c.1179C>T (p.Pro393=)
c.1188C>T (p.Pro396=)
 ClinVar dbSNP
1g.21577418C>ACA338882004ALPLc.1345C>A (p.Leu449Met)
n.614C>A
c.420C>A
c.1114C>A (p.Leu372Met)
c.1180C>A (p.Leu394Met)
c.1189C>A (p.Leu397Met)
1g.21577418C>GCA338882005ALPLc.1345C>G (p.Leu449Val)
n.614C>G
c.420C>G
c.1114C>G (p.Leu372Val)
c.1180C>G (p.Leu394Val)
c.1189C>G (p.Leu397Val)
1g.21577418C>TCA416677514ALPLc.1345C>T (p.Leu449=)
n.614C>T
c.420C>T
c.1114C>T (p.Leu372=)
c.1180C>T (p.Leu394=)
c.1189C>T (p.Leu397=)
1g.21577419T>ACA338882006ALPLc.1346T>A (p.Leu449Gln)
n.615T>A
c.421T>A
c.1115T>A (p.Leu372Gln)
c.1181T>A (p.Leu394Gln)
c.1190T>A (p.Leu397Gln)
1g.21577419T>CCA338882007ALPLc.1346T>C (p.Leu449Pro)
n.615T>C
c.421T>C
c.1115T>C (p.Leu372Pro)
c.1181T>C (p.Leu394Pro)
c.1190T>C (p.Leu397Pro)
1g.21577419T>GCA338882008ALPLc.1346T>G (p.Leu449Arg)
n.615T>G
c.421T>G
c.1115T>G (p.Leu372Arg)
c.1181T>G (p.Leu394Arg)
c.1190T>G (p.Leu397Arg)
1g.21577420G>ACA416677516ALPLc.1347G>A (p.Leu449=)
n.616G>A
c.422G>A
c.1116G>A (p.Leu372=)
c.1182G>A (p.Leu394=)
c.1191G>A (p.Leu397=)
1g.21577420G>CCA416677515ALPLc.1347G>C (p.Leu449=)
n.616G>C
c.422G>C
c.1116G>C (p.Leu372=)
c.1182G>C (p.Leu394=)
c.1191G>C (p.Leu397=)
1g.21577420G>TCA416677517ALPLc.1347G>T (p.Leu449=)
n.616G>T
c.422G>T
c.1116G>T (p.Leu372=)
c.1182G>T (p.Leu394=)
c.1191G>T (p.Leu397=)
1g.21577421C>ACA338882009ALPLc.1348C>A (p.Arg450Ser)
n.617C>A
c.423C>A
c.1117C>A (p.Arg373Ser)
c.1183C>A (p.Arg395Ser)
c.1192C>A (p.Arg398Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.21577421C=CA1141633267ALPLc.1348C= (p.Arg450=)
n.617C=
c.423C=
c.1117C= (p.Arg373=)
c.1183C= (p.Arg395=)
c.1192C= (p.Arg398=)
1g.21577421C>GCA19072001ALPLc.1348C>G (p.Arg450Gly)
n.617C>G
c.423C>G
c.1117C>G (p.Arg373Gly)
c.1183C>G (p.Arg395Gly)
c.1192C>G (p.Arg398Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.21577421C>TCA666828ALPLc.1348C>T (p.Arg450Cys)
n.617C>T
c.423C>T
c.1117C>T (p.Arg373Cys)
c.1183C>T (p.Arg395Cys)
c.1192C>T (p.Arg398Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21577422G>ACA666829ALPLc.1349G>A (p.Arg450His)
n.618G>A
c.424G>A
c.1118G>A (p.Arg373His)
c.1184G>A (p.Arg395His)
c.1193G>A (p.Arg398His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21577422G>CCA338882010ALPLc.1349G>C (p.Arg450Pro)
n.618G>C
c.424G>C
c.1118G>C (p.Arg373Pro)
c.1184G>C (p.Arg395Pro)
c.1193G>C (p.Arg398Pro)
1g.21577422G=CA1142386793ALPLc.1349G= (p.Arg450=)
n.618G=
c.424G=
c.1118G= (p.Arg373=)
c.1184G= (p.Arg395=)
c.1193G= (p.Arg398=)
1g.21577422G>TCA338882011ALPLc.1349G>T (p.Arg450Leu)
n.618G>T
c.424G>T
c.1118G>T (p.Arg373Leu)
c.1184G>T (p.Arg395Leu)
c.1193G>T (p.Arg398Leu)
 dbSNP gnomAD v4
1g.21577423C>ACA416677520ALPLc.1350C>A (p.Arg450=)
n.619C>A
c.425C>A
c.1119C>A (p.Arg373=)
c.1185C>A (p.Arg395=)
c.1194C>A (p.Arg398=)
1g.21577423C>GCA416677518ALPLc.1350C>G (p.Arg450=)
n.619C>G
c.425C>G
c.1119C>G (p.Arg373=)
c.1185C>G (p.Arg395=)
c.1194C>G (p.Arg398=)
1g.21577423C>TCA416677519ALPLc.1350C>T (p.Arg450=)
n.619C>T
c.425C>T
c.1119C>T (p.Arg373=)
c.1185C>T (p.Arg395=)
c.1194C>T (p.Arg398=)
 gnomAD v4
1g.21577424C>ACA338882012ALPLc.1351C>A (p.His451Asn)
n.620C>A
c.426C>A
c.1120C>A (p.His374Asn)
c.1186C>A (p.His396Asn)
c.1195C>A (p.His399Asn)
 gnomAD v4
1g.21577424C=CA1158020158ALPLc.1351C= (p.His451=)
n.620C=
c.426C=
c.1120C= (p.His374=)
c.1186C= (p.His396=)
c.1195C= (p.His399=)
1g.21577424C>GCA338882013ALPLc.1351C>G (p.His451Asp)
n.620C>G
c.426C>G
c.1120C>G (p.His374Asp)
c.1186C>G (p.His396Asp)
c.1195C>G (p.His399Asp)
1g.21577424C>TCA666830ALPLc.1351C>T (p.His451Tyr)
n.620C>T
c.426C>T
c.1120C>T (p.His374Tyr)
c.1186C>T (p.His396Tyr)
c.1195C>T (p.His399Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21577425A>CCA338882014ALPLc.1352A>C (p.His451Pro)
n.621A>C
c.427A>C
c.1121A>C (p.His374Pro)
c.1187A>C (p.His396Pro)
c.1196A>C (p.His399Pro)
1g.21577425A>GCA338882015ALPLc.1352A>G (p.His451Arg)
n.621A>G
c.427A>G
c.1121A>G (p.His374Arg)
c.1187A>G (p.His396Arg)
c.1196A>G (p.His399Arg)
1g.21577425A>TCA338882016ALPLc.1352A>T (p.His451Leu)
n.621A>T
c.427A>T
c.1121A>T (p.His374Leu)
c.1187A>T (p.His396Leu)
c.1196A>T (p.His399Leu)
1g.21577426C>ACA338882017ALPLc.1353C>A (p.His451Gln)
n.622C>A
c.428C>A
c.1122C>A (p.His374Gln)
c.1188C>A (p.His396Gln)
c.1197C>A (p.His399Gln)
1g.21577426C=CA1144171066ALPLc.1353C= (p.His451=)
n.622C=
c.428C=
c.1122C= (p.His374=)
c.1188C= (p.His396=)
c.1197C= (p.His399=)
1g.21577426C>GCA338882018ALPLc.1353C>G (p.His451Gln)
n.622C>G
c.428C>G
c.1122C>G (p.His374Gln)
c.1188C>G (p.His396Gln)
c.1197C>G (p.His399Gln)
1g.21577426C>TCA666831ALPLc.1353C>T (p.His451=)
n.622C>T
c.428C>T
c.1122C>T (p.His374=)
c.1188C>T (p.His396=)
c.1197C>T (p.His399=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21577427delCA2742753796ALPLc.1354del (p.Glu452ArgfsTer?)
n.623del
c.429del
c.1123del (p.Glu375ArgfsTer?)
c.1189del (p.Glu397ArgfsTer?)
c.1198del (p.Glu400ArgfsTer?)
1g.21577427G>ACA19072025ALPLc.1354G>A (p.Glu452Lys)
n.623G>A
c.429G>A
c.1123G>A (p.Glu375Lys)
c.1189G>A (p.Glu397Lys)
c.1198G>A (p.Glu400Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.21577427G>CCA338882019ALPLc.1354G>C (p.Glu452Gln)
n.623G>C
c.429G>C
c.1123G>C (p.Glu375Gln)
c.1189G>C (p.Glu397Gln)
c.1198G>C (p.Glu400Gln)
1g.21577427G=CA1158020159ALPLc.1354G= (p.Glu452=)
n.623G=
c.429G=
c.1123G= (p.Glu375=)
c.1189G= (p.Glu397=)
c.1198G= (p.Glu400=)
1g.21577427G>TCA338882020ALPLc.1354G>T (p.Glu452Ter)
n.623G>T
c.429G>T
c.1123G>T (p.Glu375Ter)
c.1189G>T (p.Glu397Ter)
c.1198G>T (p.Glu400Ter)
1g.21577428A=CA1158020160ALPLc.1355A= (p.Glu452=)
n.624A=
c.430A=
c.1124A= (p.Glu375=)
c.1190A= (p.Glu397=)
c.1199A= (p.Glu400=)
1g.21577428A>CCA338882021ALPLc.1355A>C (p.Glu452Ala)
n.624A>C
c.430A>C
c.1124A>C (p.Glu375Ala)
c.1190A>C (p.Glu397Ala)
c.1199A>C (p.Glu400Ala)
1g.21577428A>GCA338882022ALPLc.1355A>G (p.Glu452Gly)
n.624A>G
c.430A>G
c.1124A>G (p.Glu375Gly)
c.1190A>G (p.Glu397Gly)
c.1199A>G (p.Glu400Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21577428A>TCA338882023ALPLc.1355A>T (p.Glu452Val)
n.624A>T
c.430A>T
c.1124A>T (p.Glu375Val)
c.1190A>T (p.Glu397Val)
c.1199A>T (p.Glu400Val)
1g.21577429delCA2742753797ALPLc.1356del (p.Thr453ProfsTer?)
n.625del
c.431del
c.1125del (p.Thr376ProfsTer?)
c.1191del (p.Thr398ProfsTer?)
c.1200del (p.Thr401ProfsTer?)
1g.21577429G>ACA416677521ALPLc.1356G>A (p.Glu452=)
n.625G>A
c.431G>A
c.1125G>A (p.Glu375=)
c.1191G>A (p.Glu397=)
c.1200G>A (p.Glu400=)
1g.21577429G>CCA338882024ALPLc.1356G>C (p.Glu452Asp)
n.625G>C
c.431G>C
c.1125G>C (p.Glu375Asp)
c.1191G>C (p.Glu397Asp)
c.1200G>C (p.Glu400Asp)
1g.21577429G>TCA338882025ALPLc.1356G>T (p.Glu452Asp)
n.625G>T
c.431G>T
c.1125G>T (p.Glu375Asp)
c.1191G>T (p.Glu397Asp)
c.1200G>T (p.Glu400Asp)
 ClinVar
1g.21577430A>CCA338882026ALPLc.1357A>C (p.Thr453Pro)
n.626A>C
c.432A>C
c.1126A>C (p.Thr376Pro)
c.1192A>C (p.Thr398Pro)
c.1201A>C (p.Thr401Pro)
1g.21577430A>GCA338882027ALPLc.1357A>G (p.Thr453Ala)
n.626A>G
c.432A>G
c.1126A>G (p.Thr376Ala)
c.1192A>G (p.Thr398Ala)
c.1201A>G (p.Thr401Ala)
 gnomAD v4
1g.21577430A>TCA338882028ALPLc.1357A>T (p.Thr453Ser)
n.626A>T
c.432A>T
c.1126A>T (p.Thr376Ser)
c.1192A>T (p.Thr398Ser)
c.1201A>T (p.Thr401Ser)
1g.21577430_21577431delinsACCA1158020161ALPLc.1357_1358delinsAC (p.Thr453=)
n.626_627delinsAC
c.432_433delinsAC
c.1126_1127delinsAC (p.Thr376=)
c.1192_1193delinsAC (p.Thr398=)
c.1201_1202delinsAC (p.Thr401=)
1g.21577431C>ACA338882029ALPLc.1358C>A (p.Thr453Asn)
n.627C>A
c.433C>A
c.1127C>A (p.Thr376Asn)
c.1193C>A (p.Thr398Asn)
c.1202C>A (p.Thr401Asn)
1g.21577431C>GCA338882030ALPLc.1358C>G (p.Thr453Ser)
n.627C>G
c.433C>G
c.1127C>G (p.Thr376Ser)
c.1193C>G (p.Thr398Ser)
c.1202C>G (p.Thr401Ser)
1g.21577431C>TCA338882031ALPLc.1358C>T (p.Thr453Ile)
n.627C>T
c.433C>T
c.1127C>T (p.Thr376Ile)
c.1193C>T (p.Thr398Ile)
c.1202C>T (p.Thr401Ile)
1g.21577433dupCA2643932048ALPLc.1360dup (p.His454ProfsTer?)
n.629dup
c.435dup
c.1129dup (p.His377ProfsTer?)
c.1195dup (p.His399ProfsTer?)
c.1204dup (p.His402ProfsTer?)
 gnomAD v4
1g.21577433delCA666832ALPLc.1360del (p.His454ThrfsTer30)
n.629del
c.435del
c.1129del (p.His377ThrfsTer30)
c.1195del (p.His399ThrfsTer30)
c.1204del (p.His402ThrfsTer30)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21577435_21577472delCA2580061485ALPLc.1362_1399del (p.Gly456AlafsTer?)
n.631_668del
c.437_474del
c.1131_1168del (p.Gly379AlafsTer?)
c.1197_1234del (p.Gly401AlafsTer?)
c.1206_1243del (p.Gly404AlafsTer?)
 ClinVar
1g.21577432C>ACA416677523ALPLc.1359C>A (p.Thr453=)
n.628C>A
c.434C>A
c.1128C>A (p.Thr376=)
c.1194C>A (p.Thr398=)
c.1203C>A (p.Thr401=)
1g.21577432C>GCA416677522ALPLc.1359C>G (p.Thr453=)
n.628C>G
c.434C>G
c.1128C>G (p.Thr376=)
c.1194C>G (p.Thr398=)
c.1203C>G (p.Thr401=)
1g.21577432C>TCA416677524ALPLc.1359C>T (p.Thr453=)
n.628C>T
c.434C>T
c.1128C>T (p.Thr376=)
c.1194C>T (p.Thr398=)
c.1203C>T (p.Thr401=)
1g.21577433C>ACA338882032ALPLc.1360C>A (p.His454Asn)
n.629C>A
c.435C>A
c.1129C>A (p.His377Asn)
c.1195C>A (p.His399Asn)
c.1204C>A (p.His402Asn)
 COSMIC
1g.21577433C>GCA338882033ALPLc.1360C>G (p.His454Asp)
n.629C>G
c.435C>G
c.1129C>G (p.His377Asp)
c.1195C>G (p.His399Asp)
c.1204C>G (p.His402Asp)
1g.21577433C>TCA338882034ALPLc.1360C>T (p.His454Tyr)
n.629C>T
c.435C>T
c.1129C>T (p.His377Tyr)
c.1195C>T (p.His399Tyr)
c.1204C>T (p.His402Tyr)
 ClinVar dbSNP
1g.21577433_21577434insCCCAAACACACCCAACACCA2742753800ALPLc.1360_1361insCCCAAACACACCCAACAC (p.Thr453_His454insProGlnThrHisProThr)
n.629_630insCCCAAACACACCCAACAC
c.435_436insCCCAAACACACCCAACAC
c.1129_1130insCCCAAACACACCCAACAC (p.Thr376_His377insProGlnThrHisProThr)
c.1195_1196insCCCAAACACACCCAACAC (p.Thr398_His399insProGlnThrHisProThr)
c.1204_1205insCCCAAACACACCCAACAC (p.Thr401_His402insProGlnThrHisProThr)
1g.21577434delCA2695197980ALPLc.1361del (p.His454ProfsTer30)
n.630del
c.436del
c.1130del (p.His377ProfsTer30)
c.1196del (p.His399ProfsTer30)
c.1205del (p.His402ProfsTer30)
 ClinVar
1g.21577434A>CCA338882035ALPLc.1361A>C (p.His454Pro)
n.630A>C
c.436A>C
c.1130A>C (p.His377Pro)
c.1196A>C (p.His399Pro)
c.1205A>C (p.His402Pro)
1g.21577434A>GCA338882036ALPLc.1361A>G (p.His454Arg)
n.630A>G
c.436A>G
c.1130A>G (p.His377Arg)
c.1196A>G (p.His399Arg)
c.1205A>G (p.His402Arg)
1g.21577434A>TCA338882037ALPLc.1361A>T (p.His454Leu)
n.630A>T
c.436A>T
c.1130A>T (p.His377Leu)
c.1196A>T (p.His399Leu)
c.1205A>T (p.His402Leu)
1g.21577435C>ACA338882039ALPLc.1362C>A (p.His454Gln)
n.631C>A
c.437C>A
c.1131C>A (p.His377Gln)
c.1197C>A (p.His399Gln)
c.1206C>A (p.His402Gln)
1g.21577435C=CA1148395107ALPLc.1362C= (p.His454=)
n.631C=
c.437C=
c.1131C= (p.His377=)
c.1197C= (p.His399=)
c.1206C= (p.His402=)
1g.21577435C>GCA338882038ALPLc.1362C>G (p.His454Gln)
n.631C>G
c.437C>G
c.1131C>G (p.His377Gln)
c.1197C>G (p.His399Gln)
c.1206C>G (p.His402Gln)
1g.21577435C>TCA666833ALPLc.1362C>T (p.His454=)
n.631C>T
c.437C>T
c.1131C>T (p.His377=)
c.1197C>T (p.His399=)
c.1206C>T (p.His402=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21577436G>ACA666834ALPLc.1363G>A (p.Gly455Ser)
n.632G>A
c.438G>A
c.1132G>A (p.Gly378Ser)
c.1198G>A (p.Gly400Ser)
c.1207G>A (p.Gly403Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21577436G>CCA338882040ALPLc.1363G>C (p.Gly455Arg)
n.632G>C
c.438G>C
c.1132G>C (p.Gly378Arg)
c.1198G>C (p.Gly400Arg)
c.1207G>C (p.Gly403Arg)
1g.21577436G=CA1142330173ALPLc.1363G= (p.Gly455=)
n.632G=
c.438G=
c.1132G= (p.Gly378=)
c.1198G= (p.Gly400=)
c.1207G= (p.Gly403=)
1g.21577436G>TCA338882041ALPLc.1363G>T (p.Gly455Cys)
n.632G>T
c.438G>T
c.1132G>T (p.Gly378Cys)
c.1198G>T (p.Gly400Cys)
c.1207G>T (p.Gly403Cys)
1g.21577437G>ACA338882042ALPLc.1364G>A (p.Gly455Asp)
n.633G>A
c.439G>A
c.1133G>A (p.Gly378Asp)
c.1199G>A (p.Gly400Asp)
c.1208G>A (p.Gly403Asp)
 ClinVar dbSNP gnomAD v2
1g.21577437G>CCA338882043ALPLc.1364G>C (p.Gly455Ala)
n.633G>C
c.439G>C
c.1133G>C (p.Gly378Ala)
c.1199G>C (p.Gly400Ala)
c.1208G>C (p.Gly403Ala)
1g.21577437G=CA1158020162ALPLc.1364G= (p.Gly455=)
n.633G=
c.439G=
c.1133G= (p.Gly378=)
c.1199G= (p.Gly400=)
c.1208G= (p.Gly403=)
1g.21577437G>TCA338882044ALPLc.1364G>T (p.Gly455Val)
n.633G>T
c.439G>T
c.1133G>T (p.Gly378Val)
c.1199G>T (p.Gly400Val)
c.1208G>T (p.Gly403Val)
1g.21577438C>ACA416677526ALPLc.1365C>A (p.Gly455=)
n.634C>A
c.440C>A
c.1134C>A (p.Gly378=)
c.1200C>A (p.Gly400=)
c.1209C>A (p.Gly403=)
1g.21577438C=CA1143714592ALPLc.1365C= (p.Gly455=)
n.634C=
c.440C=
c.1134C= (p.Gly378=)
c.1200C= (p.Gly400=)
c.1209C= (p.Gly403=)
1g.21577438C>GCA416677525ALPLc.1365C>G (p.Gly455=)
n.634C>G
c.440C>G
c.1134C>G (p.Gly378=)
c.1200C>G (p.Gly400=)
c.1209C>G (p.Gly403=)
 dbSNP gnomAD v4
1g.21577438C>TCA666835ALPLc.1365C>T (p.Gly455=)
n.634C>T
c.440C>T
c.1134C>T (p.Gly378=)
c.1200C>T (p.Gly400=)
c.1209C>T (p.Gly403=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21577438_21577439delinsCGCA1158020163ALPLc.1365_1366delinsCG (p.Gly455=)
n.634_635delinsCG
c.440_441delinsCG
c.1134_1135delinsCG (p.Gly378=)
c.1200_1201delinsCG (p.Gly400=)
c.1209_1210delinsCG (p.Gly403=)
1g.21577438_21577439insCCCATCA999411673ALPLc.1365_1366insCCCAT (p.Gly456ProfsTer30)
n.634_635insCCCAT
c.440_441insCCCAT
c.1134_1135insCCCAT (p.Gly379ProfsTer30)
c.1200_1201insCCCAT (p.Gly401ProfsTer30)
c.1209_1210insCCCAT (p.Gly404ProfsTer30)
 dbSNP gnomAD v3 gnomAD v4
1g.21577439G>ACA256934ALPLc.1366G>A (p.Gly456Arg)
n.635G>A
c.441G>A
c.1135G>A (p.Gly379Arg)
c.1201G>A (p.Gly401Arg)
c.1210G>A (p.Gly404Arg)
 ClinVar dbSNP gnomAD v4
1g.21577439G>CCA338882046ALPLc.1366G>C (p.Gly456Arg)
n.635G>C
c.441G>C
c.1135G>C (p.Gly379Arg)
c.1201G>C (p.Gly401Arg)
c.1210G>C (p.Gly404Arg)
1g.21577439G=CA1141580651ALPLc.1366G= (p.Gly456=)
n.635G=
c.441G=
c.1135G= (p.Gly379=)
c.1201G= (p.Gly401=)
c.1210G= (p.Gly404=)
1g.21577439G>TCA338882045ALPLc.1366G>T (p.Gly456Trp)
n.635G>T
c.441G>T
c.1135G>T (p.Gly379Trp)
c.1201G>T (p.Gly401Trp)
c.1210G>T (p.Gly404Trp)
1g.21577439_21577442delinsGGGGCA1148296746ALPLc.1366_1369delinsGGGG (p.Gly456=)
n.635_638delinsGGGG
c.441_444delinsGGGG
c.1135_1138delinsGGGG (p.Gly379=)
c.1201_1204delinsGGGG (p.Gly401=)
c.1210_1213delinsGGGG (p.Gly404=)
1g.21577442delCA666836ALPLc.1369del (p.Glu457ArgfsTer27)
n.638del
c.444del
c.1138del (p.Glu380ArgfsTer27)
c.1204del (p.Glu402ArgfsTer27)
c.1213del (p.Glu405ArgfsTer27)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21577440G>ACA338882047ALPLc.1367G>A (p.Gly456Glu)
n.636G>A
c.442G>A
c.1136G>A (p.Gly379Glu)
c.1202G>A (p.Gly401Glu)
c.1211G>A (p.Gly404Glu)
 ClinVar dbSNP COSMIC
1g.21577440G>CCA338882048ALPLc.1367G>C (p.Gly456Ala)
n.636G>C
c.442G>C
c.1136G>C (p.Gly379Ala)
c.1202G>C (p.Gly401Ala)
c.1211G>C (p.Gly404Ala)
 ClinVar dbSNP
1g.21577440G=CA1158020165ALPLc.1367G= (p.Gly456=)
n.636G=
c.442G=
c.1136G= (p.Gly379=)
c.1202G= (p.Gly401=)
c.1211G= (p.Gly404=)
1g.21577440G>TCA338882049ALPLc.1367G>T (p.Gly456Val)
n.636G>T
c.442G>T
c.1136G>T (p.Gly379Val)
c.1202G>T (p.Gly401Val)
c.1211G>T (p.Gly404Val)
1g.21577440_21577449delinsGGGAGGACGTCA1158020164ALPLc.1367_1376delinsGGGAGGACGT (p.Gly456=)
n.636_645delinsGGGAGGACGT
c.442_451delinsGGGAGGACGT
c.1136_1145delinsGGGAGGACGT (p.Gly379=)
c.1202_1211delinsGGGAGGACGT (p.Gly401=)
c.1211_1220delinsGGGAGGACGT (p.Gly404=)
1g.21577441G>ACA416677527ALPLc.1368G>A (p.Gly456=)
n.637G>A
c.443G>A
c.1137G>A (p.Gly379=)
c.1203G>A (p.Gly401=)
c.1212G>A (p.Gly404=)
 COSMIC
1g.21577441G>CCA416677529ALPLc.1368G>C (p.Gly456=)
n.637G>C
c.443G>C
c.1137G>C (p.Gly379=)
c.1203G>C (p.Gly401=)
c.1212G>C (p.Gly404=)
1g.21577441G>TCA416677528ALPLc.1368G>T (p.Gly456=)
n.637G>T
c.443G>T
c.1137G>T (p.Gly379=)
c.1203G>T (p.Gly401=)
c.1212G>T (p.Gly404=)
1g.21577443_21577451delCA999411682ALPLc.1370_1378del (p.Glu457_Val459del)
n.639_647del
c.445_453del
c.1139_1147del (p.Glu380_Val382del)
c.1205_1213del (p.Glu402_Val404del)
c.1214_1222del (p.Glu405_Val407del)
 dbSNP gnomAD v3 gnomAD v4
1g.21577442G>ACA338882050ALPLc.1369G>A (p.Glu457Lys)
n.638G>A
c.444G>A
c.1138G>A (p.Glu380Lys)
c.1204G>A (p.Glu402Lys)
c.1213G>A (p.Glu405Lys)
 COSMIC
1g.21577442G>CCA338882052ALPLc.1369G>C (p.Glu457Gln)
n.638G>C
c.444G>C
c.1138G>C (p.Glu380Gln)
c.1204G>C (p.Glu402Gln)
c.1213G>C (p.Glu405Gln)
1g.21577442G>TCA338882051ALPLc.1369G>T (p.Glu457Ter)
n.638G>T
c.444G>T
c.1138G>T (p.Glu380Ter)
c.1204G>T (p.Glu402Ter)
c.1213G>T (p.Glu405Ter)
1g.21577443A>CCA338882053ALPLc.1370A>C (p.Glu457Ala)
n.639A>C
c.445A>C
c.1139A>C (p.Glu380Ala)
c.1205A>C (p.Glu402Ala)
c.1214A>C (p.Glu405Ala)
1g.21577443A>GCA338882054ALPLc.1370A>G (p.Glu457Gly)
n.639A>G
c.445A>G
c.1139A>G (p.Glu380Gly)
c.1205A>G (p.Glu402Gly)
c.1214A>G (p.Glu405Gly)
1g.21577443A>TCA338882055ALPLc.1370A>T (p.Glu457Val)
n.639A>T
c.445A>T
c.1139A>T (p.Glu380Val)
c.1205A>T (p.Glu402Val)
c.1214A>T (p.Glu405Val)
1g.21577443_21577444delinsAGCA1158020166ALPLc.1370_1371delinsAG (p.Glu457=)
n.639_640delinsAG
c.445_446delinsAG
c.1139_1140delinsAG (p.Glu380=)
c.1205_1206delinsAG (p.Glu402=)
c.1214_1215delinsAG (p.Glu405=)
1g.21577444G>ACA416677530ALPLc.1371G>A (p.Glu457=)
n.640G>A
c.446G>A
c.1140G>A (p.Glu380=)
c.1206G>A (p.Glu402=)
c.1215G>A (p.Glu405=)
 dbSNP
1g.21577444G>CCA338882056ALPLc.1371G>C (p.Glu457Asp)
n.640G>C
c.446G>C
c.1140G>C (p.Glu380Asp)
c.1206G>C (p.Glu402Asp)
c.1215G>C (p.Glu405Asp)
 gnomAD v4
1g.21577444G=CA1158020167ALPLc.1371G= (p.Glu457=)
n.640G=
c.446G=
c.1140G= (p.Glu380=)
c.1206G= (p.Glu402=)
c.1215G= (p.Glu405=)
1g.21577444G>TCA338882057ALPLc.1371G>T (p.Glu457Asp)
n.640G>T
c.446G>T
c.1140G>T (p.Glu380Asp)
c.1206G>T (p.Glu402Asp)
c.1215G>T (p.Glu405Asp)
1g.21577445delCA521899834ALPLc.1372del (p.Asp458ThrfsTer26)
n.641del
c.447del
c.1141del (p.Asp381ThrfsTer26)
c.1207del (p.Asp403ThrfsTer26)
c.1216del (p.Asp406ThrfsTer26)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21577445G>ACA338882058ALPLc.1372G>A (p.Asp458Asn)
n.641G>A
c.447G>A
c.1141G>A (p.Asp381Asn)
c.1207G>A (p.Asp403Asn)
c.1216G>A (p.Asp406Asn)
 COSMIC
1g.21577445G>CCA338882059ALPLc.1372G>C (p.Asp458His)
n.641G>C
c.447G>C
c.1141G>C (p.Asp381His)
c.1207G>C (p.Asp403His)
c.1216G>C (p.Asp406His)
1g.21577445G>TCA338882060ALPLc.1372G>T (p.Asp458Tyr)
n.641G>T
c.447G>T
c.1141G>T (p.Asp381Tyr)
c.1207G>T (p.Asp403Tyr)
c.1216G>T (p.Asp406Tyr)
1g.21577446A=CA1158020168ALPLc.1373A= (p.Asp458=)
n.642A=
c.448A=
c.1142A= (p.Asp381=)
c.1208A= (p.Asp403=)
c.1217A= (p.Asp406=)
1g.21577446A>CCA338882061ALPLc.1373A>C (p.Asp458Ala)
n.642A>C
c.448A>C
c.1142A>C (p.Asp381Ala)
c.1208A>C (p.Asp403Ala)
c.1217A>C (p.Asp406Ala)
1g.21577446A>GCA338882062ALPLc.1373A>G (p.Asp458Gly)
n.642A>G
c.448A>G
c.1142A>G (p.Asp381Gly)
c.1208A>G (p.Asp403Gly)
c.1217A>G (p.Asp406Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21577446A>TCA338882063ALPLc.1373A>T (p.Asp458Val)
n.642A>T
c.448A>T
c.1142A>T (p.Asp381Val)
c.1208A>T (p.Asp403Val)
c.1217A>T (p.Asp406Val)
1g.21577446_21577447delinsACCA1158020169ALPLc.1373_1374delinsAC (p.Asp458=)
n.642_643delinsAC
c.448_449delinsAC
c.1142_1143delinsAC (p.Asp381=)
c.1208_1209delinsAC (p.Asp403=)
c.1217_1218delinsAC (p.Asp406=)
1g.21577446_21577447delinsGACA891862657ALPLc.1373_1374delinsGA (p.Asp458Gly)
n.642_643delinsGA
c.448_449delinsGA
c.1142_1143delinsGA (p.Asp381Gly)
c.1208_1209delinsGA (p.Asp403Gly)
c.1217_1218delinsGA (p.Asp406Gly)
 ClinVar dbSNP
1g.21577447C>ACA338882064ALPLc.1374C>A (p.Asp458Glu)
n.643C>A
c.449C>A
c.1143C>A (p.Asp381Glu)
c.1209C>A (p.Asp403Glu)
c.1218C>A (p.Asp406Glu)
1g.21577447C=CA1158020170ALPLc.1374C= (p.Asp458=)
n.643C=
c.449C=
c.1143C= (p.Asp381=)
c.1209C= (p.Asp403=)
c.1218C= (p.Asp406=)
1g.21577447C>GCA338882065ALPLc.1374C>G (p.Asp458Glu)
n.643C>G
c.449C>G
c.1143C>G (p.Asp381Glu)
c.1209C>G (p.Asp403Glu)
c.1218C>G (p.Asp406Glu)
1g.21577447C>TCA666837ALPLc.1374C>T (p.Asp458=)
n.643C>T
c.449C>T
c.1143C>T (p.Asp381=)
c.1209C>T (p.Asp403=)
c.1218C>T (p.Asp406=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21577450_21577455delCA2643932049ALPLc.1377_1382del (p.Ala460_Val461del)
n.646_651del
c.452_457del
c.1146_1151del (p.Ala383_Val384del)
c.1212_1217del (p.Ala405_Val406del)
c.1221_1226del (p.Ala408_Val409del)
 gnomAD v4
1g.21577448G>ACA19072056ALPLc.1375G>A (p.Val459Met)
n.644G>A
c.450G>A
c.1144G>A (p.Val382Met)
c.1210G>A (p.Val404Met)
c.1219G>A (p.Val407Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21577448G>CCA338882066ALPLc.1375G>C (p.Val459Leu)
n.644G>C
c.450G>C
c.1144G>C (p.Val382Leu)
c.1210G>C (p.Val404Leu)
c.1219G>C (p.Val407Leu)
1g.21577448G=CA1158020171ALPLc.1375G= (p.Val459=)
n.644G=
c.450G=
c.1144G= (p.Val382=)
c.1210G= (p.Val404=)
c.1219G= (p.Val407=)
1g.21577448G>TCA338882067ALPLc.1375G>T (p.Val459Leu)
n.644G>T
c.450G>T
c.1144G>T (p.Val382Leu)
c.1210G>T (p.Val404Leu)
c.1219G>T (p.Val407Leu)
 ClinVar dbSNP gnomAD v4
1g.21577449T>ACA338882068ALPLc.1376T>A (p.Val459Glu)
n.645T>A
c.451T>A
c.1145T>A (p.Val382Glu)
c.1211T>A (p.Val404Glu)
c.1220T>A (p.Val407Glu)
1g.21577449T>CCA338882069ALPLc.1376T>C (p.Val459Ala)
n.645T>C
c.451T>C
c.1145T>C (p.Val382Ala)
c.1211T>C (p.Val404Ala)
c.1220T>C (p.Val407Ala)
 ClinVar dbSNP gnomAD v4
1g.21577449T>GCA338882070ALPLc.1376T>G (p.Val459Gly)
n.645T>G
c.451T>G
c.1145T>G (p.Val382Gly)
c.1211T>G (p.Val404Gly)
c.1220T>G (p.Val407Gly)
1g.21577450G>ACA416677531ALPLc.1377G>A (p.Val459=)
n.646G>A
c.452G>A
c.1146G>A (p.Val382=)
c.1212G>A (p.Val404=)
c.1221G>A (p.Val407=)
 dbSNP gnomAD v2
1g.21577450G>CCA416677533ALPLc.1377G>C (p.Val459=)
n.646G>C
c.452G>C
c.1146G>C (p.Val382=)
c.1212G>C (p.Val404=)
c.1221G>C (p.Val407=)
1g.21577450G=CA1158020172ALPLc.1377G= (p.Val459=)
n.646G=
c.452G=
c.1146G= (p.Val382=)
c.1212G= (p.Val404=)
c.1221G= (p.Val407=)
1g.21577450G>TCA416677532ALPLc.1377G>T (p.Val459=)
n.646G>T
c.452G>T
c.1146G>T (p.Val382=)
c.1212G>T (p.Val404=)
c.1221G>T (p.Val407=)
 gnomAD v4
1g.21577451G>ACA338882071ALPLc.1378G>A (p.Ala460Thr)
n.647G>A
c.453G>A
c.1147G>A (p.Ala383Thr)
c.1213G>A (p.Ala405Thr)
c.1222G>A (p.Ala408Thr)
1g.21577451G>CCA338882072ALPLc.1378G>C (p.Ala460Pro)
n.647G>C
c.453G>C
c.1147G>C (p.Ala383Pro)
c.1213G>C (p.Ala405Pro)
c.1222G>C (p.Ala408Pro)
1g.21577451G=CA1158020173ALPLc.1378G= (p.Ala460=)
n.647G=
c.453G=
c.1147G= (p.Ala383=)
c.1213G= (p.Ala405=)
c.1222G= (p.Ala408=)
1g.21577451G>TCA338882073ALPLc.1378G>T (p.Ala460Ser)
n.647G>T
c.453G>T
c.1147G>T (p.Ala383Ser)
c.1213G>T (p.Ala405Ser)
c.1222G>T (p.Ala408Ser)
 dbSNP gnomAD v4
1g.21577452C>ACA338882074ALPLc.1379C>A (p.Ala460Asp)
n.648C>A
c.454C>A
c.1148C>A (p.Ala383Asp)
c.1214C>A (p.Ala405Asp)
c.1223C>A (p.Ala408Asp)
1g.21577452C>GCA338882075ALPLc.1379C>G (p.Ala460Gly)
n.648C>G
c.454C>G
c.1148C>G (p.Ala383Gly)
c.1214C>G (p.Ala405Gly)
c.1223C>G (p.Ala408Gly)
1g.21577452C>TCA338882076ALPLc.1379C>T (p.Ala460Val)
n.648C>T
c.454C>T
c.1148C>T (p.Ala383Val)
c.1214C>T (p.Ala405Val)
c.1223C>T (p.Ala408Val)
 ClinVar dbSNP gnomAD v4
1g.21577453C>ACA416677534ALPLc.1380C>A (p.Ala460=)
n.649C>A
c.455C>A
c.1149C>A (p.Ala383=)
c.1215C>A (p.Ala405=)
c.1224C>A (p.Ala408=)
1g.21577453C=CA1143832205ALPLc.1380C= (p.Ala460=)
n.649C=
c.455C=
c.1149C= (p.Ala383=)
c.1215C= (p.Ala405=)
c.1224C= (p.Ala408=)
1g.21577453C>GCA416677535ALPLc.1380C>G (p.Ala460=)
n.649C>G
c.455C>G
c.1149C>G (p.Ala383=)
c.1215C>G (p.Ala405=)
c.1224C>G (p.Ala408=)
 gnomAD v4
1g.21577453C>TCA666838ALPLc.1380C>T (p.Ala460=)
n.649C>T
c.455C>T
c.1149C>T (p.Ala383=)
c.1215C>T (p.Ala405=)
c.1224C>T (p.Ala408=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21577453_21577455delinsCGTCA1158020174ALPLc.1380_1382delinsCGT (p.Ala460=)
n.649_651delinsCGT
c.455_457delinsCGT
c.1149_1151delinsCGT (p.Ala383=)
c.1215_1217delinsCGT (p.Ala405=)
c.1224_1226delinsCGT (p.Ala408=)
1g.21577454G>ACA666839ALPLc.1381G>A (p.Val461Ile)
n.650G>A
c.456G>A
c.1150G>A (p.Val384Ile)
c.1216G>A (p.Val406Ile)
c.1225G>A (p.Val409Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21577454G>CCA338882078ALPLc.1381G>C (p.Val461Leu)
n.650G>C
c.456G>C
c.1150G>C (p.Val384Leu)
c.1216G>C (p.Val406Leu)
c.1225G>C (p.Val409Leu)
1g.21577454G=CA1140538685ALPLc.1381G= (p.Val461=)
n.650G=
c.456G=
c.1150G= (p.Val384=)
c.1216G= (p.Val406=)
c.1225G= (p.Val409=)
1g.21577454G>TCA338882077ALPLc.1381G>T (p.Val461Phe)
n.650G>T
c.456G>T
c.1150G>T (p.Val384Phe)
c.1216G>T (p.Val406Phe)
c.1225G>T (p.Val409Phe)
1g.21577454_21577455delCA999411720ALPLc.1381_1382del (p.Val461LeufsTer?)
n.650_651del
c.456_457del
c.1150_1151del (p.Val384LeufsTer?)
c.1216_1217del (p.Val406LeufsTer?)
c.1225_1226del (p.Val409LeufsTer?)
 dbSNP gnomAD v3 gnomAD v4
1g.21577455T>ACA338882079ALPLc.1382T>A (p.Val461Asp)
n.651T>A
c.457T>A
c.1151T>A (p.Val384Asp)
c.1217T>A (p.Val406Asp)
c.1226T>A (p.Val409Asp)
1g.21577455T>CCA338882080ALPLc.1382T>C (p.Val461Ala)
n.651T>C
c.457T>C
c.1151T>C (p.Val384Ala)
c.1217T>C (p.Val406Ala)
c.1226T>C (p.Val409Ala)
 dbSNP gnomAD v4
1g.21577455T>GCA338882081ALPLc.1382T>G (p.Val461Gly)
n.651T>G
c.457T>G
c.1151T>G (p.Val384Gly)
c.1217T>G (p.Val406Gly)
c.1226T>G (p.Val409Gly)
1g.21577455T=CA1158020175ALPLc.1382T= (p.Val461=)
n.651T=
c.457T=
c.1151T= (p.Val384=)
c.1217T= (p.Val406=)
c.1226T= (p.Val409=)
1g.21577456C>ACA416677537ALPLc.1383C>A (p.Val461=)
n.652C>A
c.458C>A
c.1152C>A (p.Val384=)
c.1218C>A (p.Val406=)
c.1227C>A (p.Val409=)
1g.21577456C>GCA416677536ALPLc.1383C>G (p.Val461=)
n.652C>G
c.458C>G
c.1152C>G (p.Val384=)
c.1218C>G (p.Val406=)
c.1227C>G (p.Val409=)
 gnomAD v4
1g.21577456C>TCA416677538ALPLc.1383C>T (p.Val461=)
n.652C>T
c.458C>T
c.1152C>T (p.Val384=)
c.1218C>T (p.Val406=)
c.1227C>T (p.Val409=)
1g.21577457T>ACA338882082ALPLc.1384T>A (p.Phe462Ile)
n.653T>A
c.459T>A
c.1153T>A (p.Phe385Ile)
c.1219T>A (p.Phe407Ile)
c.1228T>A (p.Phe410Ile)
1g.21577457T>CCA338882083ALPLc.1384T>C (p.Phe462Leu)
n.653T>C
c.459T>C
c.1153T>C (p.Phe385Leu)
c.1219T>C (p.Phe407Leu)
c.1228T>C (p.Phe410Leu)
1g.21577457T>GCA338882084ALPLc.1384T>G (p.Phe462Val)
n.653T>G
c.459T>G
c.1153T>G (p.Phe385Val)
c.1219T>G (p.Phe407Val)
c.1228T>G (p.Phe410Val)
1g.21577458T>ACA338882085ALPLc.1385T>A (p.Phe462Tyr)
n.654T>A
c.460T>A
c.1154T>A (p.Phe385Tyr)
c.1220T>A (p.Phe407Tyr)
c.1229T>A (p.Phe410Tyr)
1g.21577458T>CCA338882086ALPLc.1385T>C (p.Phe462Ser)
n.654T>C
c.460T>C
c.1154T>C (p.Phe385Ser)
c.1220T>C (p.Phe407Ser)
c.1229T>C (p.Phe410Ser)
1g.21577458T>GCA338882087ALPLc.1385T>G (p.Phe462Cys)
n.654T>G
c.460T>G
c.1154T>G (p.Phe385Cys)
c.1220T>G (p.Phe407Cys)
c.1229T>G (p.Phe410Cys)
1g.21577459C>ACA338882088ALPLc.1386C>A (p.Phe462Leu)
n.655C>A
c.461C>A
c.1155C>A (p.Phe385Leu)
c.1221C>A (p.Phe407Leu)
c.1230C>A (p.Phe410Leu)
1g.21577459C>GCA338882089ALPLc.1386C>G (p.Phe462Leu)
n.655C>G
c.461C>G
c.1155C>G (p.Phe385Leu)
c.1221C>G (p.Phe407Leu)
c.1230C>G (p.Phe410Leu)
1g.21577459C>TCA416677539ALPLc.1386C>T (p.Phe462=)
n.655C>T
c.461C>T
c.1155C>T (p.Phe385=)
c.1221C>T (p.Phe407=)
c.1230C>T (p.Phe410=)
1g.21577460T>ACA338882090ALPLc.1387T>A (p.Ser463Thr)
n.656T>A
c.462T>A
c.1156T>A (p.Ser386Thr)
c.1222T>A (p.Ser408Thr)
c.1231T>A (p.Ser411Thr)
1g.21577460T>CCA338882091ALPLc.1387T>C (p.Ser463Pro)
n.656T>C
c.462T>C
c.1156T>C (p.Ser386Pro)
c.1222T>C (p.Ser408Pro)
c.1231T>C (p.Ser411Pro)
1g.21577460T>GCA338882092ALPLc.1387T>G (p.Ser463Ala)
n.656T>G
c.462T>G
c.1156T>G (p.Ser386Ala)
c.1222T>G (p.Ser408Ala)
c.1231T>G (p.Ser411Ala)
1g.21577461C>ACA338882095ALPLc.1388C>A (p.Ser463Tyr)
n.657C>A
c.463C>A
c.1157C>A (p.Ser386Tyr)
c.1223C>A (p.Ser408Tyr)
c.1232C>A (p.Ser411Tyr)
1g.21577461C=CA1158020176ALPLc.1388C= (p.Ser463=)
n.657C=
c.463C=
c.1157C= (p.Ser386=)
c.1223C= (p.Ser408=)
c.1232C= (p.Ser411=)
1g.21577461C>GCA338882094ALPLc.1388C>G (p.Ser463Cys)
n.657C>G
c.463C>G
c.1157C>G (p.Ser386Cys)
c.1223C>G (p.Ser408Cys)
c.1232C>G (p.Ser411Cys)
 dbSNP gnomAD v3 gnomAD v4
1g.21577461C>TCA338882093ALPLc.1388C>T (p.Ser463Phe)
n.657C>T
c.463C>T
c.1157C>T (p.Ser386Phe)
c.1223C>T (p.Ser408Phe)
c.1232C>T (p.Ser411Phe)
 gnomAD v4
1g.21577462C>ACA416677541ALPLc.1389C>A (p.Ser463=)
n.658C>A
c.464C>A
c.1158C>A (p.Ser386=)
c.1224C>A (p.Ser408=)
c.1233C>A (p.Ser411=)
1g.21577462C=CA1158020177ALPLc.1389C= (p.Ser463=)
n.658C=
c.464C=
c.1158C= (p.Ser386=)
c.1224C= (p.Ser408=)
c.1233C= (p.Ser411=)
1g.21577462C>GCA19072081ALPLc.1389C>G (p.Ser463=)
n.658C>G
c.464C>G
c.1158C>G (p.Ser386=)
c.1224C>G (p.Ser408=)
c.1233C>G (p.Ser411=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21577462C>TCA416677540ALPLc.1389C>T (p.Ser463=)
n.658C>T
c.464C>T
c.1158C>T (p.Ser386=)
c.1224C>T (p.Ser408=)
c.1233C>T (p.Ser411=)
 ClinVar gnomAD v4
1g.21577463A>CCA338882096ALPLc.1390A>C (p.Lys464Gln)
n.659A>C
c.465A>C
c.1159A>C (p.Lys387Gln)
c.1225A>C (p.Lys409Gln)
c.1234A>C (p.Lys412Gln)
1g.21577463A>GCA338882097ALPLc.1390A>G (p.Lys464Glu)
n.659A>G
c.465A>G
c.1159A>G (p.Lys387Glu)
c.1225A>G (p.Lys409Glu)
c.1234A>G (p.Lys412Glu)
1g.21577463A>TCA338882098ALPLc.1390A>T (p.Lys464Ter)
n.659A>T
c.465A>T
c.1159A>T (p.Lys387Ter)
c.1225A>T (p.Lys409Ter)
c.1234A>T (p.Lys412Ter)
1g.21577464A=CA1158020178ALPLc.1391A= (p.Lys464=)
n.660A=
c.466A=
c.1160A= (p.Lys387=)
c.1226A= (p.Lys409=)
c.1235A= (p.Lys412=)
1g.21577464A>CCA338882099ALPLc.1391A>C (p.Lys464Thr)
n.660A>C
c.466A>C
c.1160A>C (p.Lys387Thr)
c.1226A>C (p.Lys409Thr)
c.1235A>C (p.Lys412Thr)
 dbSNP
1g.21577464A>GCA338882100ALPLc.1391A>G (p.Lys464Arg)
n.660A>G
c.466A>G
c.1160A>G (p.Lys387Arg)
c.1226A>G (p.Lys409Arg)
c.1235A>G (p.Lys412Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.21577464A>TCA338882101ALPLc.1391A>T (p.Lys464Met)
n.660A>T
c.466A>T
c.1160A>T (p.Lys387Met)
c.1226A>T (p.Lys409Met)
c.1235A>T (p.Lys412Met)
1g.21577465G>ACA416677542ALPLc.1392G>A (p.Lys464=)
n.661G>A
c.467G>A
c.1161G>A (p.Lys387=)
c.1227G>A (p.Lys409=)
c.1236G>A (p.Lys412=)
 ClinVar dbSNP gnomAD v4
1g.21577465G>CCA338882103ALPLc.1392G>C (p.Lys464Asn)
n.661G>C
c.467G>C
c.1161G>C (p.Lys387Asn)
c.1227G>C (p.Lys409Asn)
c.1236G>C (p.Lys412Asn)
1g.21577465G>TCA338882102ALPLc.1392G>T (p.Lys464Asn)
n.661G>T
c.467G>T
c.1161G>T (p.Lys387Asn)
c.1227G>T (p.Lys409Asn)
c.1236G>T (p.Lys412Asn)
1g.21577466G>ACA338882104ALPLc.1393G>A (p.Gly465Ser)
n.662G>A
c.468G>A
c.1162G>A (p.Gly388Ser)
c.1228G>A (p.Gly410Ser)
c.1237G>A (p.Gly413Ser)
1g.21577466G>CCA338882105ALPLc.1393G>C (p.Gly465Arg)
n.662G>C
c.468G>C
c.1162G>C (p.Gly388Arg)
c.1228G>C (p.Gly410Arg)
c.1237G>C (p.Gly413Arg)
1g.21577466G>TCA338882106ALPLc.1393G>T (p.Gly465Cys)
n.662G>T
c.468G>T
c.1162G>T (p.Gly388Cys)
c.1228G>T (p.Gly410Cys)
c.1237G>T (p.Gly413Cys)
1g.21577467G>ACA338882107ALPLc.1394G>A (p.Gly465Asp)
n.663G>A
c.469G>A
c.1163G>A (p.Gly388Asp)
c.1229G>A (p.Gly410Asp)
c.1238G>A (p.Gly413Asp)
 gnomAD v4
1g.21577467G>CCA338882108ALPLc.1394G>C (p.Gly465Ala)
n.663G>C
c.469G>C
c.1163G>C (p.Gly388Ala)
c.1229G>C (p.Gly410Ala)
c.1238G>C (p.Gly413Ala)
1g.21577467G>TCA338882109ALPLc.1394G>T (p.Gly465Val)
n.663G>T
c.469G>T
c.1163G>T (p.Gly388Val)
c.1229G>T (p.Gly410Val)
c.1238G>T (p.Gly413Val)
 gnomAD v4
1g.21577468C>ACA416677545ALPLc.1395C>A (p.Gly465=)
n.664C>A
c.470C>A
c.1164C>A (p.Gly388=)
c.1230C>A (p.Gly410=)
c.1239C>A (p.Gly413=)
1g.21577468C>GCA416677543ALPLc.1395C>G (p.Gly465=)
n.664C>G
c.470C>G
c.1164C>G (p.Gly388=)
c.1230C>G (p.Gly410=)
c.1239C>G (p.Gly413=)
1g.21577468C>TCA416677544ALPLc.1395C>T (p.Gly465=)
n.664C>T
c.470C>T
c.1164C>T (p.Gly388=)
c.1230C>T (p.Gly410=)
c.1239C>T (p.Gly413=)
 ClinVar dbSNP gnomAD v4
1g.21577471delCA2643932050ALPLc.1398del (p.Met467TrpfsTer17)
n.667del
c.473del
c.1167del (p.Met390TrpfsTer17)
c.1233del (p.Met412TrpfsTer17)
c.1242del (p.Met415TrpfsTer17)
 gnomAD v4
1g.21577469C>ACA338882112ALPLc.1396C>A (p.Pro466Thr)
n.665C>A
c.471C>A
c.1165C>A (p.Pro389Thr)
c.1231C>A (p.Pro411Thr)
c.1240C>A (p.Pro414Thr)
1g.21577469C=CA1158020179ALPLc.1396C= (p.Pro466=)
n.665C=
c.471C=
c.1165C= (p.Pro389=)
c.1231C= (p.Pro411=)
c.1240C= (p.Pro414=)
1g.21577469C>GCA338882110ALPLc.1396C>G (p.Pro466Ala)
n.665C>G
c.471C>G
c.1165C>G (p.Pro389Ala)
c.1231C>G (p.Pro411Ala)
c.1240C>G (p.Pro414Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21577469C>TCA338882111ALPLc.1396C>T (p.Pro466Ser)
n.665C>T
c.471C>T
c.1165C>T (p.Pro389Ser)
c.1231C>T (p.Pro411Ser)
c.1240C>T (p.Pro414Ser)
1g.21577470C>ACA338882113ALPLc.1397C>A (p.Pro466His)
n.666C>A
c.472C>A
c.1166C>A (p.Pro389His)
c.1232C>A (p.Pro411His)
c.1241C>A (p.Pro414His)
1g.21577470C=CA1158020180ALPLc.1397C= (p.Pro466=)
n.666C=
c.472C=
c.1166C= (p.Pro389=)
c.1232C= (p.Pro411=)
c.1241C= (p.Pro414=)
1g.21577470C>GCA666840ALPLc.1397C>G (p.Pro466Arg)
n.666C>G
c.472C>G
c.1166C>G (p.Pro389Arg)
c.1232C>G (p.Pro411Arg)
c.1241C>G (p.Pro414Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21577470C>TCA338882114ALPLc.1397C>T (p.Pro466Leu)
n.666C>T
c.472C>T
c.1166C>T (p.Pro389Leu)
c.1232C>T (p.Pro411Leu)
c.1241C>T (p.Pro414Leu)
 gnomAD v4
1g.21577471C>ACA416677546ALPLc.1398C>A (p.Pro466=)
n.667C>A
c.473C>A
c.1167C>A (p.Pro389=)
c.1233C>A (p.Pro411=)
c.1242C>A (p.Pro414=)
 ClinVar
1g.21577471C>GCA416677548ALPLc.1398C>G (p.Pro466=)
n.667C>G
c.473C>G
c.1167C>G (p.Pro389=)
c.1233C>G (p.Pro411=)
c.1242C>G (p.Pro414=)
1g.21577471C>TCA416677547ALPLc.1398C>T (p.Pro466=)
n.667C>T
c.473C>T
c.1167C>T (p.Pro389=)
c.1233C>T (p.Pro411=)
c.1242C>T (p.Pro414=)
1g.21577472A>CCA338882115ALPLc.1399A>C (p.Met467Leu)
n.668A>C
c.474A>C
c.1168A>C (p.Met390Leu)
c.1234A>C (p.Met412Leu)
c.1243A>C (p.Met415Leu)
1g.21577472A>GCA338882116ALPLc.1399A>G (p.Met467Val)
n.668A>G
c.474A>G
c.1168A>G (p.Met390Val)
c.1234A>G (p.Met412Val)
c.1243A>G (p.Met415Val)
1g.21577472A>TCA338882117ALPLc.1399A>T (p.Met467Leu)
n.668A>T
c.474A>T
c.1168A>T (p.Met390Leu)
c.1234A>T (p.Met412Leu)
c.1243A>T (p.Met415Leu)
1g.21577473T>ACA338882118ALPLc.1400T>A (p.Met467Lys)
n.669T>A
c.475T>A
c.1169T>A (p.Met390Lys)
c.1235T>A (p.Met412Lys)
c.1244T>A (p.Met415Lys)
1g.21577473T>CCA666841ALPLc.1400T>C (p.Met467Thr)
n.669T>C
c.475T>C
c.1169T>C (p.Met390Thr)
c.1235T>C (p.Met412Thr)
c.1244T>C (p.Met415Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21577473T>GCA338882119ALPLc.1400T>G (p.Met467Arg)
n.669T>G
c.475T>G
c.1169T>G (p.Met390Arg)
c.1235T>G (p.Met412Arg)
c.1244T>G (p.Met415Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.21577473T=CA1158020181ALPLc.1400T= (p.Met467=)
n.669T=
c.475T=
c.1169T= (p.Met390=)
c.1235T= (p.Met412=)
c.1244T= (p.Met415=)

Number of alleles fetched