Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
1g.21577474G>ACA338882120ALPLc.1401G>A (p.Met467Ile)
n.670G>A
c.476G>A
c.1170G>A (p.Met390Ile)
c.1236G>A (p.Met412Ile)
c.1245G>A (p.Met415Ile)
1g.21577474G>CCA338882121ALPLc.1401G>C (p.Met467Ile)
n.670G>C
c.476G>C
c.1170G>C (p.Met390Ile)
c.1236G>C (p.Met412Ile)
c.1245G>C (p.Met415Ile)
1g.21577474G>TCA338882122ALPLc.1401G>T (p.Met467Ile)
n.670G>T
c.476G>T
c.1170G>T (p.Met390Ile)
c.1236G>T (p.Met412Ile)
c.1245G>T (p.Met415Ile)
1g.21577475G>ACA338882123ALPLc.1402G>A (p.Ala468Thr)
n.671G>A
c.477G>A
c.1171G>A (p.Ala391Thr)
c.1237G>A (p.Ala413Thr)
c.1246G>A (p.Ala416Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21577475G>CCA338882125ALPLc.1402G>C (p.Ala468Pro)
n.671G>C
c.477G>C
c.1171G>C (p.Ala391Pro)
c.1237G>C (p.Ala413Pro)
c.1246G>C (p.Ala416Pro)
1g.21577475G=CA1158020182ALPLc.1402G= (p.Ala468=)
n.671G=
c.477G=
c.1171G= (p.Ala391=)
c.1237G= (p.Ala413=)
c.1246G= (p.Ala416=)
1g.21577475G>TCA338882124ALPLc.1402G>T (p.Ala468Ser)
n.671G>T
c.477G>T
c.1171G>T (p.Ala391Ser)
c.1237G>T (p.Ala413Ser)
c.1246G>T (p.Ala416Ser)
 ClinVar dbSNP gnomAD v4
1g.21577476C>ACA338882126ALPLc.1403C>A (p.Ala468Glu)
n.672C>A
c.478C>A
c.1172C>A (p.Ala391Glu)
c.1238C>A (p.Ala413Glu)
c.1247C>A (p.Ala416Glu)
1g.21577476C=CA1158020183ALPLc.1403C= (p.Ala468=)
n.672C=
c.478C=
c.1172C= (p.Ala391=)
c.1238C= (p.Ala413=)
c.1247C= (p.Ala416=)
1g.21577476C>GCA338882127ALPLc.1403C>G (p.Ala468Gly)
n.672C>G
c.478C>G
c.1172C>G (p.Ala391Gly)
c.1238C>G (p.Ala413Gly)
c.1247C>G (p.Ala416Gly)
 gnomAD v4
1g.21577476C>TCA666842ALPLc.1403C>T (p.Ala468Val)
n.672C>T
c.478C>T
c.1172C>T (p.Ala391Val)
c.1238C>T (p.Ala413Val)
c.1247C>T (p.Ala416Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21577477G>ACA666843ALPLc.1404G>A (p.Ala468=)
n.673G>A
c.479G>A
c.1173G>A (p.Ala391=)
c.1239G>A (p.Ala413=)
c.1248G>A (p.Ala416=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21577477G>CCA416677628ALPLc.1404G>C (p.Ala468=)
n.673G>C
c.479G>C
c.1173G>C (p.Ala391=)
c.1239G>C (p.Ala413=)
c.1248G>C (p.Ala416=)
1g.21577477G=CA1158020184ALPLc.1404G= (p.Ala468=)
n.673G=
c.479G=
c.1173G= (p.Ala391=)
c.1239G= (p.Ala413=)
c.1248G= (p.Ala416=)
1g.21577477G>TCA416677629ALPLc.1404G>T (p.Ala468=)
n.673G>T
c.479G>T
c.1173G>T (p.Ala391=)
c.1239G>T (p.Ala413=)
c.1248G>T (p.Ala416=)
 gnomAD v4
1g.21577478C>ACA338882128ALPLc.1405C>A (p.His469Asn)
n.674C>A
c.480C>A
c.1174C>A (p.His392Asn)
c.1240C>A (p.His414Asn)
c.1249C>A (p.His417Asn)
1g.21577478C>GCA338882129ALPLc.1405C>G (p.His469Asp)
n.674C>G
c.480C>G
c.1174C>G (p.His392Asp)
c.1240C>G (p.His414Asp)
c.1249C>G (p.His417Asp)
1g.21577478C>TCA338882130ALPLc.1405C>T (p.His469Tyr)
n.674C>T
c.480C>T
c.1174C>T (p.His392Tyr)
c.1240C>T (p.His414Tyr)
c.1249C>T (p.His417Tyr)
 gnomAD v4
1g.21577479A=CA1158020185ALPLc.1406A= (p.His469=)
n.675A=
c.481A=
c.1175A= (p.His392=)
c.1241A= (p.His414=)
c.1250A= (p.His417=)
1g.21577479A>CCA338882132ALPLc.1406A>C (p.His469Pro)
n.675A>C
c.481A>C
c.1175A>C (p.His392Pro)
c.1241A>C (p.His414Pro)
c.1250A>C (p.His417Pro)
1g.21577479A>GCA666844ALPLc.1406A>G (p.His469Arg)
n.675A>G
c.481A>G
c.1175A>G (p.His392Arg)
c.1241A>G (p.His414Arg)
c.1250A>G (p.His417Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21577479A>TCA338882131ALPLc.1406A>T (p.His469Leu)
n.675A>T
c.481A>T
c.1175A>T (p.His392Leu)
c.1241A>T (p.His414Leu)
c.1250A>T (p.His417Leu)
1g.21577480C>ACA338882133ALPLc.1407C>A (p.His469Gln)
n.676C>A
c.482C>A
c.1176C>A (p.His392Gln)
c.1242C>A (p.His414Gln)
c.1251C>A (p.His417Gln)
1g.21577480C>GCA338882134ALPLc.1407C>G (p.His469Gln)
n.676C>G
c.482C>G
c.1176C>G (p.His392Gln)
c.1242C>G (p.His414Gln)
c.1251C>G (p.His417Gln)
 ClinVar
1g.21577480C>TCA416677630ALPLc.1407C>T (p.His469=)
n.676C>T
c.482C>T
c.1176C>T (p.His392=)
c.1242C>T (p.His414=)
c.1251C>T (p.His417=)
1g.21577481C>ACA338882135ALPLc.1408C>A (p.Leu470Met)
n.677C>A
c.483C>A
c.1177C>A (p.Leu393Met)
c.1243C>A (p.Leu415Met)
c.1252C>A (p.Leu418Met)
1g.21577481C=CA1158020186ALPLc.1408C= (p.Leu470=)
n.677C=
c.483C=
c.1177C= (p.Leu393=)
c.1243C= (p.Leu415=)
c.1252C= (p.Leu418=)
1g.21577481C>GCA338882136ALPLc.1408C>G (p.Leu470Val)
n.677C>G
c.483C>G
c.1177C>G (p.Leu393Val)
c.1243C>G (p.Leu415Val)
c.1252C>G (p.Leu418Val)
1g.21577481C>TCA666845ALPLc.1408C>T (p.Leu470=)
n.677C>T
c.483C>T
c.1177C>T (p.Leu393=)
c.1243C>T (p.Leu415=)
c.1252C>T (p.Leu418=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.21577482T>ACA338882137ALPLc.1409T>A (p.Leu470Gln)
n.678T>A
c.484T>A
c.1178T>A (p.Leu393Gln)
c.1244T>A (p.Leu415Gln)
c.1253T>A (p.Leu418Gln)
1g.21577482T>CCA338882139ALPLc.1409T>C (p.Leu470Pro)
n.678T>C
c.484T>C
c.1178T>C (p.Leu393Pro)
c.1244T>C (p.Leu415Pro)
c.1253T>C (p.Leu418Pro)
1g.21577482T>GCA338882138ALPLc.1409T>G (p.Leu470Arg)
n.678T>G
c.484T>G
c.1178T>G (p.Leu393Arg)
c.1244T>G (p.Leu415Arg)
c.1253T>G (p.Leu418Arg)
1g.21577483G>ACA416677633ALPLc.1410G>A (p.Leu470=)
n.679G>A
c.485G>A
c.1179G>A (p.Leu393=)
c.1245G>A (p.Leu415=)
c.1254G>A (p.Leu418=)
1g.21577483G>CCA416677631ALPLc.1410G>C (p.Leu470=)
n.679G>C
c.485G>C
c.1179G>C (p.Leu393=)
c.1245G>C (p.Leu415=)
c.1254G>C (p.Leu418=)
1g.21577483G>TCA416677632ALPLc.1410G>T (p.Leu470=)
n.679G>T
c.485G>T
c.1179G>T (p.Leu393=)
c.1245G>T (p.Leu415=)
c.1254G>T (p.Leu418=)
 gnomAD v4
1g.21577485_21577502delCA2586966223ALPLc.1412_1429del (p.Leu471_Glu476del)
n.681_698del
c.487_504del
c.1181_1198del (p.Leu394_Glu399del)
c.1247_1264del (p.Leu416_Glu421del)
c.1256_1273del (p.Leu419_Glu424del)
1g.21577484C>ACA338882140ALPLc.1411C>A (p.Leu471Met)
n.680C>A
c.486C>A
c.1180C>A (p.Leu394Met)
c.1246C>A (p.Leu416Met)
c.1255C>A (p.Leu419Met)
1g.21577484C=CA1158020187ALPLc.1411C= (p.Leu471=)
n.680C=
c.486C=
c.1180C= (p.Leu394=)
c.1246C= (p.Leu416=)
c.1255C= (p.Leu419=)
1g.21577484C>GCA338882141ALPLc.1411C>G (p.Leu471Val)
n.680C>G
c.486C>G
c.1180C>G (p.Leu394Val)
c.1246C>G (p.Leu416Val)
c.1255C>G (p.Leu419Val)
1g.21577484C>TCA416677634ALPLc.1411C>T (p.Leu471=)
n.680C>T
c.486C>T
c.1180C>T (p.Leu394=)
c.1246C>T (p.Leu416=)
c.1255C>T (p.Leu419=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.21577485T>ACA338882142ALPLc.1412T>A (p.Leu471Gln)
n.681T>A
c.487T>A
c.1181T>A (p.Leu394Gln)
c.1247T>A (p.Leu416Gln)
c.1256T>A (p.Leu419Gln)
1g.21577485T>CCA338882143ALPLc.1412T>C (p.Leu471Pro)
n.681T>C
c.487T>C
c.1181T>C (p.Leu394Pro)
c.1247T>C (p.Leu416Pro)
c.1256T>C (p.Leu419Pro)
 dbSNP
1g.21577485T>GCA338882144ALPLc.1412T>G (p.Leu471Arg)
n.681T>G
c.487T>G
c.1181T>G (p.Leu394Arg)
c.1247T>G (p.Leu416Arg)
c.1256T>G (p.Leu419Arg)
1g.21577485T=CA1158020188ALPLc.1412T= (p.Leu471=)
n.681T=
c.487T=
c.1181T= (p.Leu394=)
c.1247T= (p.Leu416=)
c.1256T= (p.Leu419=)
1g.21577486G>ACA416677637ALPLc.1413G>A (p.Leu471=)
n.682G>A
c.488G>A
c.1182G>A (p.Leu394=)
c.1248G>A (p.Leu416=)
c.1257G>A (p.Leu419=)
 gnomAD v4
1g.21577486G>CCA416677635ALPLc.1413G>C (p.Leu471=)
n.682G>C
c.488G>C
c.1182G>C (p.Leu394=)
c.1248G>C (p.Leu416=)
c.1257G>C (p.Leu419=)
1g.21577486G>TCA416677636ALPLc.1413G>T (p.Leu471=)
n.682G>T
c.488G>T
c.1182G>T (p.Leu394=)
c.1248G>T (p.Leu416=)
c.1257G>T (p.Leu419=)
 gnomAD v4
1g.21577487C>ACA338882145ALPLc.1414C>A (p.His472Asn)
n.683C>A
c.489C>A
c.1183C>A (p.His395Asn)
c.1249C>A (p.His417Asn)
c.1258C>A (p.His420Asn)
1g.21577487C>GCA338882146ALPLc.1414C>G (p.His472Asp)
n.683C>G
c.489C>G
c.1183C>G (p.His395Asp)
c.1249C>G (p.His417Asp)
c.1258C>G (p.His420Asp)
1g.21577487C>TCA338882147ALPLc.1414C>T (p.His472Tyr)
n.683C>T
c.489C>T
c.1183C>T (p.His395Tyr)
c.1249C>T (p.His417Tyr)
c.1258C>T (p.His420Tyr)
1g.21577488A=CA1158020189ALPLc.1415A= (p.His472=)
n.684A=
c.490A=
c.1184A= (p.His395=)
c.1250A= (p.His417=)
c.1259A= (p.His420=)
1g.21577488A>CCA338882148ALPLc.1415A>C (p.His472Pro)
n.684A>C
c.490A>C
c.1184A>C (p.His395Pro)
c.1250A>C (p.His417Pro)
c.1259A>C (p.His420Pro)
1g.21577488A>GCA338882149ALPLc.1415A>G (p.His472Arg)
n.684A>G
c.490A>G
c.1184A>G (p.His395Arg)
c.1250A>G (p.His417Arg)
c.1259A>G (p.His420Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21577488A>TCA338882150ALPLc.1415A>T (p.His472Leu)
n.684A>T
c.490A>T
c.1184A>T (p.His395Leu)
c.1250A>T (p.His417Leu)
c.1259A>T (p.His420Leu)
 gnomAD v4
1g.21577489C>ACA338882151ALPLc.1416C>A (p.His472Gln)
n.685C>A
c.491C>A
c.1185C>A (p.His395Gln)
c.1251C>A (p.His417Gln)
c.1260C>A (p.His420Gln)
1g.21577489C=CA1143663250ALPLc.1416C= (p.His472=)
n.685C=
c.491C=
c.1185C= (p.His395=)
c.1251C= (p.His417=)
c.1260C= (p.His420=)
1g.21577489C>GCA338882152ALPLc.1416C>G (p.His472Gln)
n.685C>G
c.491C>G
c.1185C>G (p.His395Gln)
c.1251C>G (p.His417Gln)
c.1260C>G (p.His420Gln)
1g.21577489C>TCA666846ALPLc.1416C>T (p.His472=)
n.685C>T
c.491C>T
c.1185C>T (p.His395=)
c.1251C>T (p.His417=)
c.1260C>T (p.His420=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21577490G>ACA338882153ALPLc.1417G>A (p.Gly473Ser)
n.686G>A
c.492G>A
c.1186G>A (p.Gly396Ser)
c.1252G>A (p.Gly418Ser)
c.1261G>A (p.Gly421Ser)
 ClinVar dbSNP gnomAD v4 COSMIC
1g.21577490G>CCA338882154ALPLc.1417G>C (p.Gly473Arg)
n.686G>C
c.492G>C
c.1186G>C (p.Gly396Arg)
c.1252G>C (p.Gly418Arg)
c.1261G>C (p.Gly421Arg)
 gnomAD v4
1g.21577490G=CA1158020190ALPLc.1417G= (p.Gly473=)
n.686G=
c.492G=
c.1186G= (p.Gly396=)
c.1252G= (p.Gly418=)
c.1261G= (p.Gly421=)
1g.21577490G>TCA338882155ALPLc.1417G>T (p.Gly473Cys)
n.686G>T
c.492G>T
c.1186G>T (p.Gly396Cys)
c.1252G>T (p.Gly418Cys)
c.1261G>T (p.Gly421Cys)
 gnomAD v4
1g.21577491G>ACA338882156ALPLc.1418G>A (p.Gly473Asp)
n.687G>A
c.493G>A
c.1187G>A (p.Gly396Asp)
c.1253G>A (p.Gly418Asp)
c.1262G>A (p.Gly421Asp)
 ClinVar dbSNP
1g.21577491G>CCA338882157ALPLc.1418G>C (p.Gly473Ala)
n.687G>C
c.493G>C
c.1187G>C (p.Gly396Ala)
c.1253G>C (p.Gly418Ala)
c.1262G>C (p.Gly421Ala)
1g.21577491G>TCA338882158ALPLc.1418G>T (p.Gly473Val)
n.687G>T
c.493G>T
c.1187G>T (p.Gly396Val)
c.1253G>T (p.Gly418Val)
c.1262G>T (p.Gly421Val)
1g.21577492C>ACA666848ALPLc.1419C>A (p.Gly473=)
n.688C>A
c.494C>A
c.1188C>A (p.Gly396=)
c.1254C>A (p.Gly418=)
c.1263C>A (p.Gly421=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21577492C=CA1143927107ALPLc.1419C= (p.Gly473=)
n.688C=
c.494C=
c.1188C= (p.Gly396=)
c.1254C= (p.Gly418=)
c.1263C= (p.Gly421=)
1g.21577492C>GCA416677638ALPLc.1419C>G (p.Gly473=)
n.688C>G
c.494C>G
c.1188C>G (p.Gly396=)
c.1254C>G (p.Gly418=)
c.1263C>G (p.Gly421=)
1g.21577492C>TCA666847ALPLc.1419C>T (p.Gly473=)
n.688C>T
c.494C>T
c.1188C>T (p.Gly396=)
c.1254C>T (p.Gly418=)
c.1263C>T (p.Gly421=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21577493G>ACA666849ALPLc.1420G>A (p.Val474Ile)
n.689G>A
c.495G>A
c.1189G>A (p.Val397Ile)
c.1255G>A (p.Val419Ile)
c.1264G>A (p.Val422Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21577493G>CCA338882159ALPLc.1420G>C (p.Val474Leu)
n.689G>C
c.495G>C
c.1189G>C (p.Val397Leu)
c.1255G>C (p.Val419Leu)
c.1264G>C (p.Val422Leu)
1g.21577493G=CA1144120718ALPLc.1420G= (p.Val474=)
n.689G=
c.495G=
c.1189G= (p.Val397=)
c.1255G= (p.Val419=)
c.1264G= (p.Val422=)
1g.21577493G>TCA338882160ALPLc.1420G>T (p.Val474Phe)
n.689G>T
c.495G>T
c.1189G>T (p.Val397Phe)
c.1255G>T (p.Val419Phe)
c.1264G>T (p.Val422Phe)
 gnomAD v4
1g.21577494T>ACA338882163ALPLc.1421T>A (p.Val474Asp)
n.690T>A
c.496T>A
c.1190T>A (p.Val397Asp)
c.1256T>A (p.Val419Asp)
c.1265T>A (p.Val422Asp)
1g.21577494T>CCA338882162ALPLc.1421T>C (p.Val474Ala)
n.690T>C
c.496T>C
c.1190T>C (p.Val397Ala)
c.1256T>C (p.Val419Ala)
c.1265T>C (p.Val422Ala)
1g.21577494T>GCA338882161ALPLc.1421T>G (p.Val474Gly)
n.690T>G
c.496T>G
c.1190T>G (p.Val397Gly)
c.1256T>G (p.Val419Gly)
c.1265T>G (p.Val422Gly)
1g.21577495C>ACA416677639ALPLc.1422C>A (p.Val474=)
n.691C>A
c.497C>A
c.1191C>A (p.Val397=)
c.1257C>A (p.Val419=)
c.1266C>A (p.Val422=)
1g.21577495C=CA1140298783ALPLc.1422C= (p.Val474=)
n.691C=
c.497C=
c.1191C= (p.Val397=)
c.1257C= (p.Val419=)
c.1266C= (p.Val422=)
1g.21577495C>GCA416677640ALPLc.1422C>G (p.Val474=)
n.691C>G
c.497C>G
c.1191C>G (p.Val397=)
c.1257C>G (p.Val419=)
c.1266C>G (p.Val422=)
1g.21577495C>TCA19072135ALPLc.1422C>T (p.Val474=)
n.691C>T
c.497C>T
c.1191C>T (p.Val397=)
c.1257C>T (p.Val419=)
c.1266C>T (p.Val422=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21577496C>ACA338882164ALPLc.1423C>A (p.His475Asn)
n.692C>A
c.498C>A
c.1192C>A (p.His398Asn)
c.1258C>A (p.His420Asn)
c.1267C>A (p.His423Asn)
1g.21577496C>GCA338882165ALPLc.1423C>G (p.His475Asp)
n.692C>G
c.498C>G
c.1192C>G (p.His398Asp)
c.1258C>G (p.His420Asp)
c.1267C>G (p.His423Asp)
1g.21577496C>TCA338882166ALPLc.1423C>T (p.His475Tyr)
n.692C>T
c.498C>T
c.1192C>T (p.His398Tyr)
c.1258C>T (p.His420Tyr)
c.1267C>T (p.His423Tyr)
1g.21577497A=CA1158020191ALPLc.1424A= (p.His475=)
n.693A=
c.499A=
c.1193A= (p.His398=)
c.1259A= (p.His420=)
c.1268A= (p.His423=)
1g.21577497A>CCA338882167ALPLc.1424A>C (p.His475Pro)
n.693A>C
c.499A>C
c.1193A>C (p.His398Pro)
c.1259A>C (p.His420Pro)
c.1268A>C (p.His423Pro)
 gnomAD v4
1g.21577497A>GCA338882168ALPLc.1424A>G (p.His475Arg)
n.693A>G
c.499A>G
c.1193A>G (p.His398Arg)
c.1259A>G (p.His420Arg)
c.1268A>G (p.His423Arg)
 dbSNP gnomAD v2
1g.21577497A>TCA338882169ALPLc.1424A>T (p.His475Leu)
n.693A>T
c.499A>T
c.1193A>T (p.His398Leu)
c.1259A>T (p.His420Leu)
c.1268A>T (p.His423Leu)
1g.21577498C>ACA338882170ALPLc.1425C>A (p.His475Gln)
n.694C>A
c.500C>A
c.1194C>A (p.His398Gln)
c.1260C>A (p.His420Gln)
c.1269C>A (p.His423Gln)
1g.21577498C=CA1142621431ALPLc.1425C= (p.His475=)
n.694C=
c.500C=
c.1194C= (p.His398=)
c.1260C= (p.His420=)
c.1269C= (p.His423=)
1g.21577498C>GCA338882171ALPLc.1425C>G (p.His475Gln)
n.694C>G
c.500C>G
c.1194C>G (p.His398Gln)
c.1260C>G (p.His420Gln)
c.1269C>G (p.His423Gln)
 dbSNP gnomAD v2
1g.21577498C>TCA666850ALPLc.1425C>T (p.His475=)
n.694C>T
c.500C>T
c.1194C>T (p.His398=)
c.1260C>T (p.His420=)
c.1269C>T (p.His423=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21577499G>ACA338882172ALPLc.1426G>A (p.Glu476Lys)
n.695G>A
c.501G>A
c.1195G>A (p.Glu399Lys)
c.1261G>A (p.Glu421Lys)
c.1270G>A (p.Glu424Lys)
 ClinVar dbSNP gnomAD v4 COSMIC
1g.21577499G>CCA338882173ALPLc.1426G>C (p.Glu476Gln)
n.695G>C
c.501G>C
c.1195G>C (p.Glu399Gln)
c.1261G>C (p.Glu421Gln)
c.1270G>C (p.Glu424Gln)
 ClinVar dbSNP COSMIC
1g.21577499G=CA1158020192ALPLc.1426G= (p.Glu476=)
n.695G=
c.501G=
c.1195G= (p.Glu399=)
c.1261G= (p.Glu421=)
c.1270G= (p.Glu424=)
1g.21577499G>TCA16040723ALPLc.1426G>T (p.Glu476Ter)
n.695G>T
c.501G>T
c.1195G>T (p.Glu399Ter)
c.1261G>T (p.Glu421Ter)
c.1270G>T (p.Glu424Ter)
 ClinVar dbSNP
1g.21577500A>CCA338882175ALPLc.1427A>C (p.Glu476Ala)
n.696A>C
c.502A>C
c.1196A>C (p.Glu399Ala)
c.1262A>C (p.Glu421Ala)
c.1271A>C (p.Glu424Ala)
 ClinVar dbSNP gnomAD v4
1g.21577500A>GCA338882176ALPLc.1427A>G (p.Glu476Gly)
n.696A>G
c.502A>G
c.1196A>G (p.Glu399Gly)
c.1262A>G (p.Glu421Gly)
c.1271A>G (p.Glu424Gly)
 ClinVar dbSNP
1g.21577500A>TCA338882174ALPLc.1427A>T (p.Glu476Val)
n.696A>T
c.502A>T
c.1196A>T (p.Glu399Val)
c.1262A>T (p.Glu421Val)
c.1271A>T (p.Glu424Val)
1g.21577501G>ACA416677641ALPLc.1428G>A (p.Glu476=)
n.697G>A
c.503G>A
c.1197G>A (p.Glu399=)
c.1263G>A (p.Glu421=)
c.1272G>A (p.Glu424=)
 ClinVar dbSNP gnomAD v4
1g.21577501G>CCA338882178ALPLc.1428G>C (p.Glu476Asp)
n.697G>C
c.503G>C
c.1197G>C (p.Glu399Asp)
c.1263G>C (p.Glu421Asp)
c.1272G>C (p.Glu424Asp)
 COSMIC
1g.21577501G>TCA338882177ALPLc.1428G>T (p.Glu476Asp)
n.697G>T
c.503G>T
c.1197G>T (p.Glu399Asp)
c.1263G>T (p.Glu421Asp)
c.1272G>T (p.Glu424Asp)
 gnomAD v4
1g.21577502C>ACA338882180ALPLc.1429C>A (p.Gln477Lys)
n.698C>A
c.504C>A
c.1198C>A (p.Gln400Lys)
c.1264C>A (p.Gln422Lys)
c.1273C>A (p.Gln425Lys)
 ClinVar
1g.21577502C=CA1158020193ALPLc.1429C= (p.Gln477=)
n.698C=
c.504C=
c.1198C= (p.Gln400=)
c.1264C= (p.Gln422=)
c.1273C= (p.Gln425=)
1g.21577502C>GCA338882179ALPLc.1429C>G (p.Gln477Glu)
n.698C>G
c.504C>G
c.1198C>G (p.Gln400Glu)
c.1264C>G (p.Gln422Glu)
c.1273C>G (p.Gln425Glu)
1g.21577502C>TCA338882181ALPLc.1429C>T (p.Gln477Ter)
n.698C>T
c.504C>T
c.1198C>T (p.Gln400Ter)
c.1264C>T (p.Gln422Ter)
c.1273C>T (p.Gln425Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21577503A>CCA338882182ALPLc.1430A>C (p.Gln477Pro)
n.699A>C
c.505A>C
c.1199A>C (p.Gln400Pro)
c.1265A>C (p.Gln422Pro)
c.1274A>C (p.Gln425Pro)
1g.21577503A>GCA338882184ALPLc.1430A>G (p.Gln477Arg)
n.699A>G
c.505A>G
c.1199A>G (p.Gln400Arg)
c.1265A>G (p.Gln422Arg)
c.1274A>G (p.Gln425Arg)
1g.21577503A>TCA338882183ALPLc.1430A>T (p.Gln477Leu)
n.699A>T
c.505A>T
c.1199A>T (p.Gln400Leu)
c.1265A>T (p.Gln422Leu)
c.1274A>T (p.Gln425Leu)
1g.21577504G>ACA416677642ALPLc.1431G>A (p.Gln477=)
n.700G>A
c.506G>A
c.1200G>A (p.Gln400=)
c.1266G>A (p.Gln422=)
c.1275G>A (p.Gln425=)
 gnomAD v4
1g.21577504G>CCA338882185ALPLc.1431G>C (p.Gln477His)
n.700G>C
c.506G>C
c.1200G>C (p.Gln400His)
c.1266G>C (p.Gln422His)
c.1275G>C (p.Gln425His)
1g.21577504G>TCA338882186ALPLc.1431G>T (p.Gln477His)
n.700G>T
c.506G>T
c.1200G>T (p.Gln400His)
c.1266G>T (p.Gln422His)
c.1275G>T (p.Gln425His)
1g.21577505A>CCA338882187ALPLc.1432A>C (p.Asn478His)
n.701A>C
c.507A>C
c.1201A>C (p.Asn401His)
c.1267A>C (p.Asn423His)
c.1276A>C (p.Asn426His)
1g.21577505A>GCA338882189ALPLc.1432A>G (p.Asn478Asp)
n.701A>G
c.507A>G
c.1201A>G (p.Asn401Asp)
c.1267A>G (p.Asn423Asp)
c.1276A>G (p.Asn426Asp)
 gnomAD v4
1g.21577505A>TCA338882188ALPLc.1432A>T (p.Asn478Tyr)
n.701A>T
c.507A>T
c.1201A>T (p.Asn401Tyr)
c.1267A>T (p.Asn423Tyr)
c.1276A>T (p.Asn426Tyr)
1g.21577506A>CCA338882190ALPLc.1433A>C (p.Asn478Thr)
n.702A>C
c.508A>C
c.1202A>C (p.Asn401Thr)
c.1268A>C (p.Asn423Thr)
c.1277A>C (p.Asn426Thr)
1g.21577506A>GCA338882191ALPLc.1433A>G (p.Asn478Ser)
n.702A>G
c.508A>G
c.1202A>G (p.Asn401Ser)
c.1268A>G (p.Asn423Ser)
c.1277A>G (p.Asn426Ser)
1g.21577506A>TCA338882192ALPLc.1433A>T (p.Asn478Ile)
n.702A>T
c.508A>T
c.1202A>T (p.Asn401Ile)
c.1268A>T (p.Asn423Ile)
c.1277A>T (p.Asn426Ile)
1g.21577507C>ACA338882193ALPLc.1434C>A (p.Asn478Lys)
n.703C>A
c.509C>A
c.1203C>A (p.Asn401Lys)
c.1269C>A (p.Asn423Lys)
c.1278C>A (p.Asn426Lys)
1g.21577507C>GCA338882194ALPLc.1434C>G (p.Asn478Lys)
n.703C>G
c.509C>G
c.1203C>G (p.Asn401Lys)
c.1269C>G (p.Asn423Lys)
c.1278C>G (p.Asn426Lys)
 gnomAD v4
1g.21577507C>TCA416677643ALPLc.1434C>T (p.Asn478=)
n.703C>T
c.509C>T
c.1203C>T (p.Asn401=)
c.1269C>T (p.Asn423=)
c.1278C>T (p.Asn426=)
 gnomAD v4
1g.21577508delCA2697552244ALPLc.1435del (p.Tyr479ThrfsTer5)
n.704del
c.510del
c.1204del (p.Tyr402ThrfsTer5)
c.1270del (p.Tyr424ThrfsTer5)
c.1279del (p.Tyr427ThrfsTer5)
 ClinVar
1g.21577508T>ACA338882197ALPLc.1435T>A (p.Tyr479Asn)
n.704T>A
c.510T>A
c.1204T>A (p.Tyr402Asn)
c.1270T>A (p.Tyr424Asn)
c.1279T>A (p.Tyr427Asn)
1g.21577508T>CCA338882196ALPLc.1435T>C (p.Tyr479His)
n.704T>C
c.510T>C
c.1204T>C (p.Tyr402His)
c.1270T>C (p.Tyr424His)
c.1279T>C (p.Tyr427His)
 gnomAD v4
1g.21577508T>GCA338882195ALPLc.1435T>G (p.Tyr479Asp)
n.704T>G
c.510T>G
c.1204T>G (p.Tyr402Asp)
c.1270T>G (p.Tyr424Asp)
c.1279T>G (p.Tyr427Asp)
1g.21577509A=CA1158020194ALPLc.1436A= (p.Tyr479=)
n.705A=
c.511A=
c.1205A= (p.Tyr402=)
c.1271A= (p.Tyr424=)
c.1280A= (p.Tyr427=)
1g.21577509A>CCA338882198ALPLc.1436A>C (p.Tyr479Ser)
n.705A>C
c.511A>C
c.1205A>C (p.Tyr402Ser)
c.1271A>C (p.Tyr424Ser)
c.1280A>C (p.Tyr427Ser)
1g.21577509A>GCA338882199ALPLc.1436A>G (p.Tyr479Cys)
n.705A>G
c.511A>G
c.1205A>G (p.Tyr402Cys)
c.1271A>G (p.Tyr424Cys)
c.1280A>G (p.Tyr427Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21577509A>TCA338882200ALPLc.1436A>T (p.Tyr479Phe)
n.705A>T
c.511A>T
c.1205A>T (p.Tyr402Phe)
c.1271A>T (p.Tyr424Phe)
c.1280A>T (p.Tyr427Phe)
1g.21577510C>ACA338882201ALPLc.1437C>A (p.Tyr479Ter)
n.706C>A
c.512C>A
c.1206C>A (p.Tyr402Ter)
c.1272C>A (p.Tyr424Ter)
c.1281C>A (p.Tyr427Ter)
1g.21577510C=CA1144264657ALPLc.1437C= (p.Tyr479=)
n.706C=
c.512C=
c.1206C= (p.Tyr402=)
c.1272C= (p.Tyr424=)
c.1281C= (p.Tyr427=)
1g.21577510C>GCA338882202ALPLc.1437C>G (p.Tyr479Ter)
n.706C>G
c.512C>G
c.1206C>G (p.Tyr402Ter)
c.1272C>G (p.Tyr424Ter)
c.1281C>G (p.Tyr427Ter)
1g.21577510C>TCA666851ALPLc.1437C>T (p.Tyr479=)
n.706C>T
c.512C>T
c.1206C>T (p.Tyr402=)
c.1272C>T (p.Tyr424=)
c.1281C>T (p.Tyr427=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21577511G>ACA338882205ALPLc.1438G>A (p.Val480Ile)
n.707G>A
c.513G>A
c.1207G>A (p.Val403Ile)
c.1273G>A (p.Val425Ile)
c.1282G>A (p.Val428Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21577511G>CCA338882203ALPLc.1438G>C (p.Val480Leu)
n.707G>C
c.513G>C
c.1207G>C (p.Val403Leu)
c.1273G>C (p.Val425Leu)
c.1282G>C (p.Val428Leu)
 gnomAD v4
1g.21577511G=CA1158020195ALPLc.1438G= (p.Val480=)
n.707G=
c.513G=
c.1207G= (p.Val403=)
c.1273G= (p.Val425=)
c.1282G= (p.Val428=)
1g.21577511G>TCA338882204ALPLc.1438G>T (p.Val480Phe)
n.707G>T
c.513G>T
c.1207G>T (p.Val403Phe)
c.1273G>T (p.Val425Phe)
c.1282G>T (p.Val428Phe)
 gnomAD v4
1g.21577512delCA2580061486ALPLc.1439del (p.Val480AlafsTer4)
n.708del
c.514del
c.1208del (p.Val403AlafsTer4)
c.1274del (p.Val425AlafsTer4)
c.1283del (p.Val428AlafsTer4)
 ClinVar
1g.21577512T>ACA338882206ALPLc.1439T>A (p.Val480Asp)
n.708T>A
c.514T>A
c.1208T>A (p.Val403Asp)
c.1274T>A (p.Val425Asp)
c.1283T>A (p.Val428Asp)
1g.21577512T>CCA338882207ALPLc.1439T>C (p.Val480Ala)
n.708T>C
c.514T>C
c.1208T>C (p.Val403Ala)
c.1274T>C (p.Val425Ala)
c.1283T>C (p.Val428Ala)
 gnomAD v4
1g.21577512T>GCA338882208ALPLc.1439T>G (p.Val480Gly)
n.708T>G
c.514T>G
c.1208T>G (p.Val403Gly)
c.1274T>G (p.Val425Gly)
c.1283T>G (p.Val428Gly)
1g.21577513C>ACA416677644ALPLc.1440C>A (p.Val480=)
n.709C>A
c.515C>A
c.1209C>A (p.Val403=)
c.1275C>A (p.Val425=)
c.1284C>A (p.Val428=)
1g.21577513C=CA1145216783ALPLc.1440C= (p.Val480=)
n.709C=
c.515C=
c.1209C= (p.Val403=)
c.1275C= (p.Val425=)
c.1284C= (p.Val428=)
1g.21577513C>GCA416677645ALPLc.1440C>G (p.Val480=)
n.709C>G
c.515C>G
c.1209C>G (p.Val403=)
c.1275C>G (p.Val425=)
c.1284C>G (p.Val428=)
1g.21577513C>TCA666852ALPLc.1440C>T (p.Val480=)
n.709C>T
c.515C>T
c.1209C>T (p.Val403=)
c.1275C>T (p.Val425=)
c.1284C>T (p.Val428=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21577517dupCA2586966224ALPLc.1444dup (p.His482ProfsTer?)
n.713dup
c.519dup
c.1213dup (p.His405ProfsTer?)
c.1279dup (p.His427ProfsTer?)
c.1288dup (p.His430ProfsTer?)
 ClinVar
1g.21577517delCA2643932051ALPLc.1444del (p.His482ThrfsTer2)
n.713del
c.519del
c.1213del (p.His405ThrfsTer2)
c.1279del (p.His427ThrfsTer2)
c.1288del (p.His430ThrfsTer2)
 gnomAD v4
1g.21577514C>ACA338882211ALPLc.1441C>A (p.Pro481Thr)
n.710C>A
c.516C>A
c.1210C>A (p.Pro404Thr)
c.1276C>A (p.Pro426Thr)
c.1285C>A (p.Pro429Thr)
1g.21577514C=CA1158020196ALPLc.1441C= (p.Pro481=)
n.710C=
c.516C=
c.1210C= (p.Pro404=)
c.1276C= (p.Pro426=)
c.1285C= (p.Pro429=)
1g.21577514C>GCA338882213ALPLc.1441C>G (p.Pro481Ala)
n.710C>G
c.516C>G
c.1210C>G (p.Pro404Ala)
c.1276C>G (p.Pro426Ala)
c.1285C>G (p.Pro429Ala)
 gnomAD v4
1g.21577514C>TCA666853ALPLc.1441C>T (p.Pro481Ser)
n.710C>T
c.516C>T
c.1210C>T (p.Pro404Ser)
c.1276C>T (p.Pro426Ser)
c.1285C>T (p.Pro429Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21577515C>ACA338882214ALPLc.1442C>A (p.Pro481His)
n.711C>A
c.517C>A
c.1211C>A (p.Pro404His)
c.1277C>A (p.Pro426His)
c.1286C>A (p.Pro429His)
 gnomAD v4
1g.21577515C>GCA338882216ALPLc.1442C>G (p.Pro481Arg)
n.711C>G
c.517C>G
c.1211C>G (p.Pro404Arg)
c.1277C>G (p.Pro426Arg)
c.1286C>G (p.Pro429Arg)
1g.21577515C>TCA338882218ALPLc.1442C>T (p.Pro481Leu)
n.711C>T
c.517C>T
c.1211C>T (p.Pro404Leu)
c.1277C>T (p.Pro426Leu)
c.1286C>T (p.Pro429Leu)
 ClinVar
1g.21577516C>ACA416677648ALPLc.1443C>A (p.Pro481=)
n.712C>A
c.518C>A
c.1212C>A (p.Pro404=)
c.1278C>A (p.Pro426=)
c.1287C>A (p.Pro429=)
1g.21577516C>GCA416677646ALPLc.1443C>G (p.Pro481=)
n.712C>G
c.518C>G
c.1212C>G (p.Pro404=)
c.1278C>G (p.Pro426=)
c.1287C>G (p.Pro429=)
1g.21577516C>TCA416677647ALPLc.1443C>T (p.Pro481=)
n.712C>T
c.518C>T
c.1212C>T (p.Pro404=)
c.1278C>T (p.Pro426=)
c.1287C>T (p.Pro429=)
 gnomAD v4
1g.21577517C>ACA666854ALPLc.1444C>A (p.His482Asn)
n.713C>A
c.519C>A
c.1213C>A (p.His405Asn)
c.1279C>A (p.His427Asn)
c.1288C>A (p.His430Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21577517C=CA1158020197ALPLc.1444C= (p.His482=)
n.713C=
c.519C=
c.1213C= (p.His405=)
c.1279C= (p.His427=)
c.1288C= (p.His430=)
1g.21577517C>GCA338882220ALPLc.1444C>G (p.His482Asp)
n.713C>G
c.519C>G
c.1213C>G (p.His405Asp)
c.1279C>G (p.His427Asp)
c.1288C>G (p.His430Asp)
 dbSNP
1g.21577517C>TCA19072145ALPLc.1444C>T (p.His482Tyr)
n.713C>T
c.519C>T
c.1213C>T (p.His405Tyr)
c.1279C>T (p.His427Tyr)
c.1288C>T (p.His430Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21577517_21577518delinsCACA1158020198ALPLc.1444_1445delinsCA (p.His482=)
n.713_714delinsCA
c.519_520delinsCA
c.1213_1214delinsCA (p.His405=)
c.1279_1280delinsCA (p.His427=)
c.1288_1289delinsCA (p.His430=)
1g.21577518delCA731318457ALPLc.1445del (p.His482ProfsTer2)
n.714del
c.520del
c.1214del (p.His405ProfsTer2)
c.1280del (p.His427ProfsTer2)
c.1289del (p.His430ProfsTer2)
 dbSNP gnomAD v3 gnomAD v4
1g.21577518A>CCA338882226ALPLc.1445A>C (p.His482Pro)
n.714A>C
c.520A>C
c.1214A>C (p.His405Pro)
c.1280A>C (p.His427Pro)
c.1289A>C (p.His430Pro)
1g.21577518A>GCA338882223ALPLc.1445A>G (p.His482Arg)
n.714A>G
c.520A>G
c.1214A>G (p.His405Arg)
c.1280A>G (p.His427Arg)
c.1289A>G (p.His430Arg)
1g.21577518A>TCA338882224ALPLc.1445A>T (p.His482Leu)
n.714A>T
c.520A>T
c.1214A>T (p.His405Leu)
c.1280A>T (p.His427Leu)
c.1289A>T (p.His430Leu)
1g.21577519C>ACA338882228ALPLc.1446C>A (p.His482Gln)
n.715C>A
c.521C>A
c.1215C>A (p.His405Gln)
c.1281C>A (p.His427Gln)
c.1290C>A (p.His430Gln)
 ClinVar
1g.21577519C=CA1148713559ALPLc.1446C= (p.His482=)
n.715C=
c.521C=
c.1215C= (p.His405=)
c.1281C= (p.His427=)
c.1290C= (p.His430=)
1g.21577519C>GCA338882230ALPLc.1446C>G (p.His482Gln)
n.715C>G
c.521C>G
c.1215C>G (p.His405Gln)
c.1281C>G (p.His427Gln)
c.1290C>G (p.His430Gln)
1g.21577519C>TCA666855ALPLc.1446C>T (p.His482=)
n.715C>T
c.521C>T
c.1215C>T (p.His405=)
c.1281C>T (p.His427=)
c.1290C>T (p.His430=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21577520G>ACA338882231ALPLc.1447G>A (p.Val483Met)
n.716G>A
c.522G>A
c.1216G>A (p.Val406Met)
c.1282G>A (p.Val428Met)
c.1291G>A (p.Val431Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21577520G>CCA338882233ALPLc.1447G>C (p.Val483Leu)
n.716G>C
c.522G>C
c.1216G>C (p.Val406Leu)
c.1282G>C (p.Val428Leu)
c.1291G>C (p.Val431Leu)
1g.21577520G=CA1158020199ALPLc.1447G= (p.Val483=)
n.716G=
c.522G=
c.1216G= (p.Val406=)
c.1282G= (p.Val428=)
c.1291G= (p.Val431=)
1g.21577520G>TCA338882235ALPLc.1447G>T (p.Val483Leu)
n.716G>T
c.522G>T
c.1216G>T (p.Val406Leu)
c.1282G>T (p.Val428Leu)
c.1291G>T (p.Val431Leu)
 gnomAD v4
1g.21577521T>ACA338882237ALPLc.1448T>A (p.Val483Glu)
n.717T>A
c.523T>A
c.1217T>A (p.Val406Glu)
c.1283T>A (p.Val428Glu)
c.1292T>A (p.Val431Glu)
1g.21577521T>CCA666856ALPLc.1448T>C (p.Val483Ala)
n.717T>C
c.523T>C
c.1217T>C (p.Val406Ala)
c.1283T>C (p.Val428Ala)
c.1292T>C (p.Val431Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21577521T>GCA338882239ALPLc.1448T>G (p.Val483Gly)
n.717T>G
c.523T>G
c.1217T>G (p.Val406Gly)
c.1283T>G (p.Val428Gly)
c.1292T>G (p.Val431Gly)
1g.21577521T=CA1158020200ALPLc.1448T= (p.Val483=)
n.717T=
c.523T=
c.1217T= (p.Val406=)
c.1283T= (p.Val428=)
c.1292T= (p.Val431=)
1g.21577522G>ACA416677651ALPLc.1449G>A (p.Val483=)
n.718G>A
c.524G>A
c.1218G>A (p.Val406=)
c.1284G>A (p.Val428=)
c.1293G>A (p.Val431=)
 dbSNP gnomAD v2 gnomAD v4
1g.21577522G>CCA416677649ALPLc.1449G>C (p.Val483=)
n.718G>C
c.524G>C
c.1218G>C (p.Val406=)
c.1284G>C (p.Val428=)
c.1293G>C (p.Val431=)
1g.21577522G=CA1158020201ALPLc.1449G= (p.Val483=)
n.718G=
c.524G=
c.1218G= (p.Val406=)
c.1284G= (p.Val428=)
c.1293G= (p.Val431=)
1g.21577522G>TCA416677650ALPLc.1449G>T (p.Val483=)
n.718G>T
c.524G>T
c.1218G>T (p.Val406=)
c.1284G>T (p.Val428=)
c.1293G>T (p.Val431=)
 gnomAD v4
1g.21577523A=CA1158020202ALPLc.1450A= (p.Met484=)
n.719A=
c.525A=
c.1219A= (p.Met407=)
c.1285A= (p.Met429=)
c.1294A= (p.Met432=)
1g.21577523A>CCA338882240ALPLc.1450A>C (p.Met484Leu)
n.719A>C
c.525A>C
c.1219A>C (p.Met407Leu)
c.1285A>C (p.Met429Leu)
c.1294A>C (p.Met432Leu)
1g.21577523A>GCA338882242ALPLc.1450A>G (p.Met484Val)
n.719A>G
c.525A>G
c.1219A>G (p.Met407Val)
c.1285A>G (p.Met429Val)
c.1294A>G (p.Met432Val)
 dbSNP
1g.21577523A>TCA338882243ALPLc.1450A>T (p.Met484Leu)
n.719A>T
c.525A>T
c.1219A>T (p.Met407Leu)
c.1285A>T (p.Met429Leu)
c.1294A>T (p.Met432Leu)
1g.21577524T>ACA338882248ALPLc.1451T>A (p.Met484Lys)
n.720T>A
c.526T>A
c.1220T>A (p.Met407Lys)
c.1286T>A (p.Met429Lys)
c.1295T>A (p.Met432Lys)
1g.21577524T>CCA338882247ALPLc.1451T>C (p.Met484Thr)
n.720T>C
c.526T>C
c.1220T>C (p.Met407Thr)
c.1286T>C (p.Met429Thr)
c.1295T>C (p.Met432Thr)
 dbSNP
1g.21577524T>GCA338882246ALPLc.1451T>G (p.Met484Arg)
n.720T>G
c.526T>G
c.1220T>G (p.Met407Arg)
c.1286T>G (p.Met429Arg)
c.1295T>G (p.Met432Arg)
 ClinVar dbSNP gnomAD v4
1g.21577524T=CA1158020203ALPLc.1451T= (p.Met484=)
n.720T=
c.526T=
c.1220T= (p.Met407=)
c.1286T= (p.Met429=)
c.1295T= (p.Met432=)
1g.21577525G>ACA338882249ALPLc.1452G>A (p.Met484Ile)
n.721G>A
c.527G>A
c.1221G>A (p.Met407Ile)
c.1287G>A (p.Met429Ile)
c.1296G>A (p.Met432Ile)
1g.21577525G>CCA338882250ALPLc.1452G>C (p.Met484Ile)
n.721G>C
c.527G>C
c.1221G>C (p.Met407Ile)
c.1287G>C (p.Met429Ile)
c.1296G>C (p.Met432Ile)
 gnomAD v4
1g.21577525G>TCA338882252ALPLc.1452G>T (p.Met484Ile)
n.721G>T
c.527G>T
c.1221G>T (p.Met407Ile)
c.1287G>T (p.Met429Ile)
c.1296G>T (p.Met432Ile)
 gnomAD v4
1g.21577525_21577526insTCA2586966225ALPLc.1452_1453insT (p.Ala485CysfsTer?)
n.721_722insT
c.527_528insT
c.1221_1222insT (p.Ala408CysfsTer?)
c.1287_1288insT (p.Ala430CysfsTer?)
c.1296_1297insT (p.Ala433CysfsTer?)
1g.21577526G>ACA338882254ALPLc.1453G>A (p.Ala485Thr)
n.722G>A
c.528G>A
c.1222G>A (p.Ala408Thr)
c.1288G>A (p.Ala430Thr)
c.1297G>A (p.Ala433Thr)
1g.21577526G>CCA338882256ALPLc.1453G>C (p.Ala485Pro)
n.722G>C
c.528G>C
c.1222G>C (p.Ala408Pro)
c.1288G>C (p.Ala430Pro)
c.1297G>C (p.Ala433Pro)
1g.21577526G=CA1158020204ALPLc.1453G= (p.Ala485=)
n.722G=
c.528G=
c.1222G= (p.Ala408=)
c.1288G= (p.Ala430=)
c.1297G= (p.Ala433=)
1g.21577526G>TCA338882257ALPLc.1453G>T (p.Ala485Ser)
n.722G>T
c.528G>T
c.1222G>T (p.Ala408Ser)
c.1288G>T (p.Ala430Ser)
c.1297G>T (p.Ala433Ser)
 dbSNP gnomAD v4
1g.21577527C>ACA338882258ALPLc.1454C>A (p.Ala485Glu)
n.723C>A
c.529C>A
c.1223C>A (p.Ala408Glu)
c.1289C>A (p.Ala430Glu)
c.1298C>A (p.Ala433Glu)
1g.21577527C=CA1158020205ALPLc.1454C= (p.Ala485=)
n.723C=
c.529C=
c.1223C= (p.Ala408=)
c.1289C= (p.Ala430=)
c.1298C= (p.Ala433=)
1g.21577527C>GCA338882260ALPLc.1454C>G (p.Ala485Gly)
n.723C>G
c.529C>G
c.1223C>G (p.Ala408Gly)
c.1289C>G (p.Ala430Gly)
c.1298C>G (p.Ala433Gly)
1g.21577527C>TCA10607097ALPLc.1454C>T (p.Ala485Val)
n.723C>T
c.529C>T
c.1223C>T (p.Ala408Val)
c.1289C>T (p.Ala430Val)
c.1298C>T (p.Ala433Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21577528G>ACA666857ALPLc.1455G>A (p.Ala485=)
n.724G>A
c.530G>A
c.1224G>A (p.Ala408=)
c.1290G>A (p.Ala430=)
c.1299G>A (p.Ala433=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21577528G>CCA416677654ALPLc.1455G>C (p.Ala485=)
n.724G>C
c.530G>C
c.1224G>C (p.Ala408=)
c.1290G>C (p.Ala430=)
c.1299G>C (p.Ala433=)
1g.21577528G=CA1142995235ALPLc.1455G= (p.Ala485=)
n.724G=
c.530G=
c.1224G= (p.Ala408=)
c.1290G= (p.Ala430=)
c.1299G= (p.Ala433=)
1g.21577528G>TCA416677656ALPLc.1455G>T (p.Ala485=)
n.724G>T
c.530G>T
c.1224G>T (p.Ala408=)
c.1290G>T (p.Ala430=)
c.1299G>T (p.Ala433=)
1g.21577529delCA2643932052ALPLc.1456del (p.Tyr486MetfsTer?)
n.725del
c.531del
c.1225del (p.Tyr409MetfsTer?)
c.1291del (p.Tyr431MetfsTer?)
c.1300del (p.Tyr434MetfsTer?)
 gnomAD v4
1g.21577529T>ACA338882263ALPLc.1456T>A (p.Tyr486Asn)
n.725T>A
c.531T>A
c.1225T>A (p.Tyr409Asn)
c.1291T>A (p.Tyr431Asn)
c.1300T>A (p.Tyr434Asn)
1g.21577529T>CCA338882265ALPLc.1456T>C (p.Tyr486His)
n.725T>C
c.531T>C
c.1225T>C (p.Tyr409His)
c.1291T>C (p.Tyr431His)
c.1300T>C (p.Tyr434His)
1g.21577529T>GCA338882266ALPLc.1456T>G (p.Tyr486Asp)
n.725T>G
c.531T>G
c.1225T>G (p.Tyr409Asp)
c.1291T>G (p.Tyr431Asp)
c.1300T>G (p.Tyr434Asp)
1g.21577530A>CCA338882271ALPLc.1457A>C (p.Tyr486Ser)
n.726A>C
c.532A>C
c.1226A>C (p.Tyr409Ser)
c.1292A>C (p.Tyr431Ser)
c.1301A>C (p.Tyr434Ser)
1g.21577530A>GCA338882269ALPLc.1457A>G (p.Tyr486Cys)
n.726A>G
c.532A>G
c.1226A>G (p.Tyr409Cys)
c.1292A>G (p.Tyr431Cys)
c.1301A>G (p.Tyr434Cys)
 gnomAD v4
1g.21577530A>TCA338882268ALPLc.1457A>T (p.Tyr486Phe)
n.726A>T
c.532A>T
c.1226A>T (p.Tyr409Phe)
c.1292A>T (p.Tyr431Phe)
c.1301A>T (p.Tyr434Phe)
1g.21577531T>ACA338882273ALPLc.1458T>A (p.Tyr486Ter)
n.727T>A
c.533T>A
c.1227T>A (p.Tyr409Ter)
c.1293T>A (p.Tyr431Ter)
c.1302T>A (p.Tyr434Ter)
1g.21577531T>CCA416677660ALPLc.1458T>C (p.Tyr486=)
n.727T>C
c.533T>C
c.1227T>C (p.Tyr409=)
c.1293T>C (p.Tyr431=)
c.1302T>C (p.Tyr434=)
 ClinVar
1g.21577531T>GCA338882274ALPLc.1458T>G (p.Tyr486Ter)
n.727T>G
c.533T>G
c.1227T>G (p.Tyr409Ter)
c.1293T>G (p.Tyr431Ter)
c.1302T>G (p.Tyr434Ter)
1g.21577532G>ACA338882276ALPLc.1459G>A (p.Ala487Thr)
n.728G>A
c.534G>A
c.1228G>A (p.Ala410Thr)
c.1294G>A (p.Ala432Thr)
c.1303G>A (p.Ala435Thr)
 gnomAD v4
1g.21577532G>CCA338882278ALPLc.1459G>C (p.Ala487Pro)
n.728G>C
c.534G>C
c.1228G>C (p.Ala410Pro)
c.1294G>C (p.Ala432Pro)
c.1303G>C (p.Ala435Pro)
1g.21577532G>TCA338882280ALPLc.1459G>T (p.Ala487Ser)
n.728G>T
c.534G>T
c.1228G>T (p.Ala410Ser)
c.1294G>T (p.Ala432Ser)
c.1303G>T (p.Ala435Ser)
 gnomAD v4
1g.21577533C>ACA338882281ALPLc.1460C>A (p.Ala487Glu)
n.729C>A
c.535C>A
c.1229C>A (p.Ala410Glu)
c.1295C>A (p.Ala432Glu)
c.1304C>A (p.Ala435Glu)
1g.21577533C=CA1158020206ALPLc.1460C= (p.Ala487=)
n.729C=
c.535C=
c.1229C= (p.Ala410=)
c.1295C= (p.Ala432=)
c.1304C= (p.Ala435=)
1g.21577533C>GCA338882283ALPLc.1460C>G (p.Ala487Gly)
n.729C>G
c.535C>G
c.1229C>G (p.Ala410Gly)
c.1295C>G (p.Ala432Gly)
c.1304C>G (p.Ala435Gly)
1g.21577533C>TCA338882285ALPLc.1460C>T (p.Ala487Val)
n.729C>T
c.535C>T
c.1229C>T (p.Ala410Val)
c.1295C>T (p.Ala432Val)
c.1304C>T (p.Ala435Val)
 ClinVar dbSNP gnomAD v4
1g.21577534A>CCA416677664ALPLc.1461A>C (p.Ala487=)
n.730A>C
c.536A>C
c.1230A>C (p.Ala410=)
c.1296A>C (p.Ala432=)
c.1305A>C (p.Ala435=)
 ClinVar dbSNP
1g.21577534A>GCA416677666ALPLc.1461A>G (p.Ala487=)
n.730A>G
c.536A>G
c.1230A>G (p.Ala410=)
c.1296A>G (p.Ala432=)
c.1305A>G (p.Ala435=)
 gnomAD v4
1g.21577534A>TCA416677662ALPLc.1461A>T (p.Ala487=)
n.730A>T
c.536A>T
c.1230A>T (p.Ala410=)
c.1296A>T (p.Ala432=)
c.1305A>T (p.Ala435=)
1g.21577535G>ACA338882287ALPLc.1462G>A (p.Ala488Thr)
n.731G>A
c.537G>A
c.1231G>A (p.Ala411Thr)
c.1297G>A (p.Ala433Thr)
c.1306G>A (p.Ala436Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21577535G>CCA338882288ALPLc.1462G>C (p.Ala488Pro)
n.731G>C
c.537G>C
c.1231G>C (p.Ala411Pro)
c.1297G>C (p.Ala433Pro)
c.1306G>C (p.Ala436Pro)
1g.21577535G=CA1158020207ALPLc.1462G= (p.Ala488=)
n.731G=
c.537G=
c.1231G= (p.Ala411=)
c.1297G= (p.Ala433=)
c.1306G= (p.Ala436=)
1g.21577535G>TCA338882289ALPLc.1462G>T (p.Ala488Ser)
n.731G>T
c.537G>T
c.1231G>T (p.Ala411Ser)
c.1297G>T (p.Ala433Ser)
c.1306G>T (p.Ala436Ser)
 gnomAD v4
1g.21577536C>ACA338882291ALPLc.1463C>A (p.Ala488Asp)
n.732C>A
c.538C>A
c.1232C>A (p.Ala411Asp)
c.1298C>A (p.Ala433Asp)
c.1307C>A (p.Ala436Asp)
 gnomAD v4
1g.21577536C>GCA338882293ALPLc.1463C>G (p.Ala488Gly)
n.732C>G
c.538C>G
c.1232C>G (p.Ala411Gly)
c.1298C>G (p.Ala433Gly)
c.1307C>G (p.Ala436Gly)
1g.21577536C>TCA338882295ALPLc.1463C>T (p.Ala488Val)
n.732C>T
c.538C>T
c.1232C>T (p.Ala411Val)
c.1298C>T (p.Ala433Val)
c.1307C>T (p.Ala436Val)
1g.21577537C>ACA416677668ALPLc.1464C>A (p.Ala488=)
n.733C>A
c.539C>A
c.1233C>A (p.Ala411=)
c.1299C>A (p.Ala433=)
c.1308C>A (p.Ala436=)
 gnomAD v4
1g.21577537C=CA1149068283ALPLc.1464C= (p.Ala488=)
n.733C=
c.539C=
c.1233C= (p.Ala411=)
c.1299C= (p.Ala433=)
c.1308C= (p.Ala436=)
1g.21577537C>GCA416677667ALPLc.1464C>G (p.Ala488=)
n.733C>G
c.539C>G
c.1233C>G (p.Ala411=)
c.1299C>G (p.Ala433=)
c.1308C>G (p.Ala436=)
1g.21577537C>TCA666858ALPLc.1464C>T (p.Ala488=)
n.733C>T
c.539C>T
c.1233C>T (p.Ala411=)
c.1299C>T (p.Ala433=)
c.1308C>T (p.Ala436=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21577538T>ACA338882298ALPLc.1465T>A (p.Cys489Ser)
n.734T>A
c.540T>A
c.1234T>A (p.Cys412Ser)
c.1300T>A (p.Cys434Ser)
c.1309T>A (p.Cys437Ser)
1g.21577538T>CCA338882301ALPLc.1465T>C (p.Cys489Arg)
n.734T>C
c.540T>C
c.1234T>C (p.Cys412Arg)
c.1300T>C (p.Cys434Arg)
c.1309T>C (p.Cys437Arg)
1g.21577538T>GCA338882299ALPLc.1465T>G (p.Cys489Gly)
n.734T>G
c.540T>G
c.1234T>G (p.Cys412Gly)
c.1300T>G (p.Cys434Gly)
c.1309T>G (p.Cys437Gly)
1g.21577539G>ACA338882303ALPLc.1466G>A (p.Cys489Tyr)
n.735G>A
c.541G>A
c.1235G>A (p.Cys412Tyr)
c.1301G>A (p.Cys434Tyr)
c.1310G>A (p.Cys437Tyr)
 dbSNP gnomAD v2 gnomAD v4
1g.21577539G>CCA338882304ALPLc.1466G>C (p.Cys489Ser)
n.735G>C
c.541G>C
c.1235G>C (p.Cys412Ser)
c.1301G>C (p.Cys434Ser)
c.1310G>C (p.Cys437Ser)
1g.21577539G=CA1158020208ALPLc.1466G= (p.Cys489=)
n.735G=
c.541G=
c.1235G= (p.Cys412=)
c.1301G= (p.Cys434=)
c.1310G= (p.Cys437=)
1g.21577539G>TCA338882305ALPLc.1466G>T (p.Cys489Phe)
n.735G>T
c.541G>T
c.1235G>T (p.Cys412Phe)
c.1301G>T (p.Cys434Phe)
c.1310G>T (p.Cys437Phe)
 gnomAD v4
1g.21577540C>ACA338882307ALPLc.1467C>A (p.Cys489Ter)
n.736C>A
c.542C>A
c.1236C>A (p.Cys412Ter)
c.1302C>A (p.Cys434Ter)
c.1311C>A (p.Cys437Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.21577540C=CA1158020209ALPLc.1467C= (p.Cys489=)
n.736C=
c.542C=
c.1236C= (p.Cys412=)
c.1302C= (p.Cys434=)
c.1311C= (p.Cys437=)
1g.21577540C>GCA338882309ALPLc.1467C>G (p.Cys489Trp)
n.736C>G
c.542C>G
c.1236C>G (p.Cys412Trp)
c.1302C>G (p.Cys434Trp)
c.1311C>G (p.Cys437Trp)
1g.21577540C>TCA416677672ALPLc.1467C>T (p.Cys489=)
n.736C>T
c.542C>T
c.1236C>T (p.Cys412=)
c.1302C>T (p.Cys434=)
c.1311C>T (p.Cys437=)
 gnomAD v4
1g.21577541A=CA1158020210ALPLc.1468A= (p.Ile490=)
n.737A=
c.543A=
c.1237A= (p.Ile413=)
c.1303A= (p.Ile435=)
c.1312A= (p.Ile438=)
1g.21577541A>CCA338882311ALPLc.1468A>C (p.Ile490Leu)
n.737A>C
c.543A>C
c.1237A>C (p.Ile413Leu)
c.1303A>C (p.Ile435Leu)
c.1312A>C (p.Ile438Leu)
 ClinVar
1g.21577541A>GCA338882312ALPLc.1468A>G (p.Ile490Val)
n.737A>G
c.543A>G
c.1237A>G (p.Ile413Val)
c.1303A>G (p.Ile435Val)
c.1312A>G (p.Ile438Val)
1g.21577541A>TCA338882313ALPLc.1468A>T (p.Ile490Phe)
n.737A>T
c.543A>T
c.1237A>T (p.Ile413Phe)
c.1303A>T (p.Ile435Phe)
c.1312A>T (p.Ile438Phe)
 ClinVar dbSNP
1g.21577542T>ACA338882316ALPLc.1469T>A (p.Ile490Asn)
n.738T>A
c.544T>A
c.1238T>A (p.Ile413Asn)
c.1304T>A (p.Ile435Asn)
c.1313T>A (p.Ile438Asn)
1g.21577542T>CCA338882317ALPLc.1469T>C (p.Ile490Thr)
n.738T>C
c.544T>C
c.1238T>C (p.Ile413Thr)
c.1304T>C (p.Ile435Thr)
c.1313T>C (p.Ile438Thr)
1g.21577542T>GCA338882318ALPLc.1469T>G (p.Ile490Ser)
n.738T>G
c.544T>G
c.1238T>G (p.Ile413Ser)
c.1304T>G (p.Ile435Ser)
c.1313T>G (p.Ile438Ser)
1g.21577543C>ACA416677674ALPLc.1470C>A (p.Ile490=)
n.739C>A
c.545C>A
c.1239C>A (p.Ile413=)
c.1305C>A (p.Ile435=)
c.1314C>A (p.Ile438=)
1g.21577543C=CA1158020211ALPLc.1470C= (p.Ile490=)
n.739C=
c.545C=
c.1239C= (p.Ile413=)
c.1305C= (p.Ile435=)
c.1314C= (p.Ile438=)
1g.21577543C>GCA338882321ALPLc.1470C>G (p.Ile490Met)
n.739C>G
c.545C>G
c.1239C>G (p.Ile413Met)
c.1305C>G (p.Ile435Met)
c.1314C>G (p.Ile438Met)
1g.21577543C>TCA666859ALPLc.1470C>T (p.Ile490=)
n.739C>T
c.545C>T
c.1239C>T (p.Ile413=)
c.1305C>T (p.Ile435=)
c.1314C>T (p.Ile438=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21577543_21577544delinsCGCA1158020212ALPLc.1470_1471delinsCG (p.Ile490=)
n.739_740delinsCG
c.545_546delinsCG
c.1239_1240delinsCG (p.Ile413=)
c.1305_1306delinsCG (p.Ile435=)
c.1314_1315delinsCG (p.Ile438=)
1g.21577544G>ACA338882323ALPLc.1471G>A (p.Gly491Arg)
n.740G>A
c.546G>A
c.1240G>A (p.Gly414Arg)
c.1306G>A (p.Gly436Arg)
c.1315G>A (p.Gly439Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21577544G>CCA338882324ALPLc.1471G>C (p.Gly491Arg)
n.740G>C
c.546G>C
c.1240G>C (p.Gly414Arg)
c.1306G>C (p.Gly436Arg)
c.1315G>C (p.Gly439Arg)
 gnomAD v4
1g.21577544G=CA1158020213ALPLc.1471G= (p.Gly491=)
n.740G=
c.546G=
c.1240G= (p.Gly414=)
c.1306G= (p.Gly436=)
c.1315G= (p.Gly439=)
1g.21577544G>TCA338882326ALPLc.1471G>T (p.Gly491Trp)
n.740G>T
c.546G>T
c.1240G>T (p.Gly414Trp)
c.1306G>T (p.Gly436Trp)
c.1315G>T (p.Gly439Trp)
 gnomAD v4
1g.21577547delCA521899848ALPLc.1474del (p.Ala492ProfsTer29)
n.743del
c.549del
c.1243del (p.Ala415ProfsTer29)
c.1309del (p.Ala437ProfsTer29)
c.1318del (p.Ala440ProfsTer29)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21577545G>ACA338882327ALPLc.1472G>A (p.Gly491Glu)
n.741G>A
c.547G>A
c.1241G>A (p.Gly414Glu)
c.1307G>A (p.Gly436Glu)
c.1316G>A (p.Gly439Glu)
1g.21577545G>CCA338882329ALPLc.1472G>C (p.Gly491Ala)
n.741G>C
c.547G>C
c.1241G>C (p.Gly414Ala)
c.1307G>C (p.Gly436Ala)
c.1316G>C (p.Gly439Ala)
 gnomAD v4
1g.21577545G>TCA338882331ALPLc.1472G>T (p.Gly491Val)
n.741G>T
c.547G>T
c.1241G>T (p.Gly414Val)
c.1307G>T (p.Gly436Val)
c.1316G>T (p.Gly439Val)
 gnomAD v4
1g.21577546G>ACA416677676ALPLc.1473G>A (p.Gly491=)
n.742G>A
c.548G>A
c.1242G>A (p.Gly414=)
c.1308G>A (p.Gly436=)
c.1317G>A (p.Gly439=)
 COSMIC
1g.21577546G>CCA416677678ALPLc.1473G>C (p.Gly491=)
n.742G>C
c.548G>C
c.1242G>C (p.Gly414=)
c.1308G>C (p.Gly436=)
c.1317G>C (p.Gly439=)
1g.21577546G>TCA416677677ALPLc.1473G>T (p.Gly491=)
n.742G>T
c.548G>T
c.1242G>T (p.Gly414=)
c.1308G>T (p.Gly436=)
c.1317G>T (p.Gly439=)
 gnomAD v4
1g.21577547G>ACA338882332ALPLc.1474G>A (p.Ala492Thr)
n.743G>A
c.549G>A
c.1243G>A (p.Ala415Thr)
c.1309G>A (p.Ala437Thr)
c.1318G>A (p.Ala440Thr)
1g.21577547G>CCA338882333ALPLc.1474G>C (p.Ala492Pro)
n.743G>C
c.549G>C
c.1243G>C (p.Ala415Pro)
c.1309G>C (p.Ala437Pro)
c.1318G>C (p.Ala440Pro)
1g.21577547G>TCA338882335ALPLc.1474G>T (p.Ala492Ser)
n.743G>T
c.549G>T
c.1243G>T (p.Ala415Ser)
c.1309G>T (p.Ala437Ser)
c.1318G>T (p.Ala440Ser)
 gnomAD v4
1g.21577548C>ACA338882337ALPLc.1475C>A (p.Ala492Asp)
n.744C>A
c.550C>A
c.1244C>A (p.Ala415Asp)
c.1310C>A (p.Ala437Asp)
c.1319C>A (p.Ala440Asp)
1g.21577548C>GCA338882338ALPLc.1475C>G (p.Ala492Gly)
n.744C>G
c.550C>G
c.1244C>G (p.Ala415Gly)
c.1310C>G (p.Ala437Gly)
c.1319C>G (p.Ala440Gly)
1g.21577548C>TCA338882339ALPLc.1475C>T (p.Ala492Val)
n.744C>T
c.550C>T
c.1244C>T (p.Ala415Val)
c.1310C>T (p.Ala437Val)
c.1319C>T (p.Ala440Val)
 ClinVar
1g.21577549C>ACA416677681ALPLc.1476C>A (p.Ala492=)
n.745C>A
c.551C>A
c.1245C>A (p.Ala415=)
c.1311C>A (p.Ala437=)
c.1320C>A (p.Ala440=)
1g.21577549C=CA1158020214ALPLc.1476C= (p.Ala492=)
n.745C=
c.551C=
c.1245C= (p.Ala415=)
c.1311C= (p.Ala437=)
c.1320C= (p.Ala440=)
1g.21577549C>GCA416677682ALPLc.1476C>G (p.Ala492=)
n.745C>G
c.551C>G
c.1245C>G (p.Ala415=)
c.1311C>G (p.Ala437=)
c.1320C>G (p.Ala440=)
1g.21577549C>TCA666860ALPLc.1476C>T (p.Ala492=)
n.745C>T
c.551C>T
c.1245C>T (p.Ala415=)
c.1311C>T (p.Ala437=)
c.1320C>T (p.Ala440=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21577550A>CCA338882347ALPLc.1477A>C (p.Asn493His)
n.746A>C
c.552A>C
c.1246A>C (p.Asn416His)
c.1312A>C (p.Asn438His)
c.1321A>C (p.Asn441His)
1g.21577550A>GCA338882346ALPLc.1477A>G (p.Asn493Asp)
n.746A>G
c.552A>G
c.1246A>G (p.Asn416Asp)
c.1312A>G (p.Asn438Asp)
c.1321A>G (p.Asn441Asp)
 gnomAD v4
1g.21577550A>TCA338882344ALPLc.1477A>T (p.Asn493Tyr)
n.746A>T
c.552A>T
c.1246A>T (p.Asn416Tyr)
c.1312A>T (p.Asn438Tyr)
c.1321A>T (p.Asn441Tyr)
1g.21577551A>CCA338882349ALPLc.1478A>C (p.Asn493Thr)
n.747A>C
c.553A>C
c.1247A>C (p.Asn416Thr)
c.1313A>C (p.Asn438Thr)
c.1322A>C (p.Asn441Thr)
1g.21577551A>GCA338882351ALPLc.1478A>G (p.Asn493Ser)
n.747A>G
c.553A>G
c.1247A>G (p.Asn416Ser)
c.1313A>G (p.Asn438Ser)
c.1322A>G (p.Asn441Ser)
1g.21577551A>TCA338882353ALPLc.1478A>T (p.Asn493Ile)
n.747A>T
c.553A>T
c.1247A>T (p.Asn416Ile)
c.1313A>T (p.Asn438Ile)
c.1322A>T (p.Asn441Ile)
1g.21577552C>ACA338882354ALPLc.1479C>A (p.Asn493Lys)
n.748C>A
c.554C>A
c.1248C>A (p.Asn416Lys)
c.1314C>A (p.Asn438Lys)
c.1323C>A (p.Asn441Lys)
 ClinVar dbSNP
1g.21577552C=CA1158020215ALPLc.1479C= (p.Asn493=)
n.748C=
c.554C=
c.1248C= (p.Asn416=)
c.1314C= (p.Asn438=)
c.1323C= (p.Asn441=)
1g.21577552C>GCA338882356ALPLc.1479C>G (p.Asn493Lys)
n.748C>G
c.554C>G
c.1248C>G (p.Asn416Lys)
c.1314C>G (p.Asn438Lys)
c.1323C>G (p.Asn441Lys)
1g.21577552C>TCA666861ALPLc.1479C>T (p.Asn493=)
n.748C>T
c.554C>T
c.1248C>T (p.Asn416=)
c.1314C>T (p.Asn438=)
c.1323C>T (p.Asn441=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21577555_21577605delCA2739291908ALPLc.1482_1532del (p.Gly495_Leu511del)
n.751_801del
c.557_607del
c.1251_1301del (p.Gly418_Leu434del)
c.1317_1367del (p.Gly440_Leu456del)
c.1326_1376del (p.Gly443_Leu459del)
1g.21577553C>ACA338882359ALPLc.1480C>A (p.Leu494Ile)
n.749C>A
c.555C>A
c.1249C>A (p.Leu417Ile)
c.1315C>A (p.Leu439Ile)
c.1324C>A (p.Leu442Ile)
 gnomAD v4
1g.21577553C=CA1158020216ALPLc.1480C= (p.Leu494=)
n.749C=
c.555C=
c.1249C= (p.Leu417=)
c.1315C= (p.Leu439=)
c.1324C= (p.Leu442=)
1g.21577553C>GCA19072258ALPLc.1480C>G (p.Leu494Val)
n.749C>G
c.555C>G
c.1249C>G (p.Leu417Val)
c.1315C>G (p.Leu439Val)
c.1324C>G (p.Leu442Val)
 dbSNP gnomAD v3 gnomAD v4
1g.21577553C>TCA666862ALPLc.1480C>T (p.Leu494Phe)
n.749C>T
c.555C>T
c.1249C>T (p.Leu417Phe)
c.1315C>T (p.Leu439Phe)
c.1324C>T (p.Leu442Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21577554T>ACA338882362ALPLc.1481T>A (p.Leu494His)
n.750T>A
c.556T>A
c.1250T>A (p.Leu417His)
c.1316T>A (p.Leu439His)
c.1325T>A (p.Leu442His)
 gnomAD v4
1g.21577554T>CCA338882364ALPLc.1481T>C (p.Leu494Pro)
n.750T>C
c.556T>C
c.1250T>C (p.Leu417Pro)
c.1316T>C (p.Leu439Pro)
c.1325T>C (p.Leu442Pro)
1g.21577554T>GCA338882366ALPLc.1481T>G (p.Leu494Arg)
n.750T>G
c.556T>G
c.1250T>G (p.Leu417Arg)
c.1316T>G (p.Leu439Arg)
c.1325T>G (p.Leu442Arg)
1g.21577555C>ACA416677685ALPLc.1482C>A (p.Leu494=)
n.751C>A
c.557C>A
c.1251C>A (p.Leu417=)
c.1317C>A (p.Leu439=)
c.1326C>A (p.Leu442=)
 gnomAD v4
1g.21577555C=CA1141873396ALPLc.1482C= (p.Leu494=)
n.751C=
c.557C=
c.1251C= (p.Leu417=)
c.1317C= (p.Leu439=)
c.1326C= (p.Leu442=)
1g.21577555C>GCA416677686ALPLc.1482C>G (p.Leu494=)
n.751C>G
c.557C>G
c.1251C>G (p.Leu417=)
c.1317C>G (p.Leu439=)
c.1326C>G (p.Leu442=)
 gnomAD v4
1g.21577555C>TCA666863ALPLc.1482C>T (p.Leu494=)
n.751C>T
c.557C>T
c.1251C>T (p.Leu417=)
c.1317C>T (p.Leu439=)
c.1326C>T (p.Leu442=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21577556G>ACA666865ALPLc.1483G>A (p.Gly495Ser)
n.752G>A
c.558G>A
c.1252G>A (p.Gly418Ser)
c.1318G>A (p.Gly440Ser)
c.1327G>A (p.Gly443Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21577556G>CCA666864ALPLc.1483G>C (p.Gly495Arg)
n.752G>C
c.558G>C
c.1252G>C (p.Gly418Arg)
c.1318G>C (p.Gly440Arg)
c.1327G>C (p.Gly443Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21577556G=CA1158020217ALPLc.1483G= (p.Gly495=)
n.752G=
c.558G=
c.1252G= (p.Gly418=)
c.1318G= (p.Gly440=)
c.1327G= (p.Gly443=)
1g.21577556G>TCA338882369ALPLc.1483G>T (p.Gly495Cys)
n.752G>T
c.558G>T
c.1252G>T (p.Gly418Cys)
c.1318G>T (p.Gly440Cys)
c.1327G>T (p.Gly443Cys)
 gnomAD v4
1g.21577557G>ACA338882372ALPLc.1484G>A (p.Gly495Asp)
n.753G>A
c.559G>A
c.1253G>A (p.Gly418Asp)
c.1319G>A (p.Gly440Asp)
c.1328G>A (p.Gly443Asp)
 gnomAD v4 COSMIC
1g.21577557G>CCA338882374ALPLc.1484G>C (p.Gly495Ala)
n.753G>C
c.559G>C
c.1253G>C (p.Gly418Ala)
c.1319G>C (p.Gly440Ala)
c.1328G>C (p.Gly443Ala)
 gnomAD v4
1g.21577557G>TCA338882373ALPLc.1484G>T (p.Gly495Val)
n.753G>T
c.559G>T
c.1253G>T (p.Gly418Val)
c.1319G>T (p.Gly440Val)
c.1328G>T (p.Gly443Val)
 gnomAD v4
1g.21577558C>ACA416677689ALPLc.1485C>A (p.Gly495=)
n.754C>A
c.560C>A
c.1254C>A (p.Gly418=)
c.1320C>A (p.Gly440=)
c.1329C>A (p.Gly443=)
1g.21577558C>GCA416677687ALPLc.1485C>G (p.Gly495=)
n.754C>G
c.560C>G
c.1254C>G (p.Gly418=)
c.1320C>G (p.Gly440=)
c.1329C>G (p.Gly443=)
1g.21577558C>TCA416677688ALPLc.1485C>T (p.Gly495=)
n.754C>T
c.560C>T
c.1254C>T (p.Gly418=)
c.1320C>T (p.Gly440=)
c.1329C>T (p.Gly443=)
 gnomAD v4
1g.21577559C>ACA338882377ALPLc.1486C>A (p.His496Asn)
n.755C>A
c.561C>A
c.1255C>A (p.His419Asn)
c.1321C>A (p.His441Asn)
c.1330C>A (p.His444Asn)
1g.21577559C>GCA338882380ALPLc.1486C>G (p.His496Asp)
n.755C>G
c.561C>G
c.1255C>G (p.His419Asp)
c.1321C>G (p.His441Asp)
c.1330C>G (p.His444Asp)
1g.21577559C>TCA338882379ALPLc.1486C>T (p.His496Tyr)
n.755C>T
c.561C>T
c.1255C>T (p.His419Tyr)
c.1321C>T (p.His441Tyr)
c.1330C>T (p.His444Tyr)
 gnomAD v4
1g.21577560A=CA1158020218ALPLc.1487A= (p.His496=)
n.756A=
c.562A=
c.1256A= (p.His419=)
c.1322A= (p.His441=)
c.1331A= (p.His444=)
1g.21577560A>CCA338882382ALPLc.1487A>C (p.His496Pro)
n.756A>C
c.562A>C
c.1256A>C (p.His419Pro)
c.1322A>C (p.His441Pro)
c.1331A>C (p.His444Pro)
1g.21577560A>GCA338882384ALPLc.1487A>G (p.His496Arg)
n.756A>G
c.562A>G
c.1256A>G (p.His419Arg)
c.1322A>G (p.His441Arg)
c.1331A>G (p.His444Arg)
 ClinVar dbSNP gnomAD v4
1g.21577560A>TCA338882386ALPLc.1487A>T (p.His496Leu)
n.756A>T
c.562A>T
c.1256A>T (p.His419Leu)
c.1322A>T (p.His441Leu)
c.1331A>T (p.His444Leu)
1g.21577561C>ACA338882387ALPLc.1488C>A (p.His496Gln)
n.757C>A
c.563C>A
c.1257C>A (p.His419Gln)
c.1323C>A (p.His441Gln)
c.1332C>A (p.His444Gln)
1g.21577561C>GCA338882388ALPLc.1488C>G (p.His496Gln)
n.757C>G
c.563C>G
c.1257C>G (p.His419Gln)
c.1323C>G (p.His441Gln)
c.1332C>G (p.His444Gln)
1g.21577561C>TCA416677691ALPLc.1488C>T (p.His496=)
n.757C>T
c.563C>T
c.1257C>T (p.His419=)
c.1323C>T (p.His441=)
c.1332C>T (p.His444=)
 gnomAD v4
1g.21577561_21577562delinsCTCA1158020219ALPLc.1488_1489delinsCT (p.His496=)
n.757_758delinsCT
c.563_564delinsCT
c.1257_1258delinsCT (p.His419=)
c.1323_1324delinsCT (p.His441=)
c.1332_1333delinsCT (p.His444=)
1g.21577562delCA999411816ALPLc.1489del (p.Cys497ValfsTer24)
n.758del
c.564del
c.1258del (p.Cys420ValfsTer24)
c.1324del (p.Cys442ValfsTer24)
c.1333del (p.Cys445ValfsTer24)
 dbSNP gnomAD v3 gnomAD v4
1g.21577562T>ACA338882390ALPLc.1489T>A (p.Cys497Ser)
n.758T>A
c.564T>A
c.1258T>A (p.Cys420Ser)
c.1324T>A (p.Cys442Ser)
c.1333T>A (p.Cys445Ser)
 ClinVar
1g.21577562T>CCA338882392ALPLc.1489T>C (p.Cys497Arg)
n.758T>C
c.564T>C
c.1258T>C (p.Cys420Arg)
c.1324T>C (p.Cys442Arg)
c.1333T>C (p.Cys445Arg)
 gnomAD v4
1g.21577562T>GCA338882394ALPLc.1489T>G (p.Cys497Gly)
n.758T>G
c.564T>G
c.1258T>G (p.Cys420Gly)
c.1324T>G (p.Cys442Gly)
c.1333T>G (p.Cys445Gly)
1g.21577563G>ACA338882395ALPLc.1490G>A (p.Cys497Tyr)
n.759G>A
c.565G>A
c.1259G>A (p.Cys420Tyr)
c.1325G>A (p.Cys442Tyr)
c.1334G>A (p.Cys445Tyr)
 gnomAD v4
1g.21577563G>CCA338882397ALPLc.1490G>C (p.Cys497Ser)
n.759G>C
c.565G>C
c.1259G>C (p.Cys420Ser)
c.1325G>C (p.Cys442Ser)
c.1334G>C (p.Cys445Ser)
1g.21577563G>TCA338882402ALPLc.1490G>T (p.Cys497Phe)
n.759G>T
c.565G>T
c.1259G>T (p.Cys420Phe)
c.1325G>T (p.Cys442Phe)
c.1334G>T (p.Cys445Phe)
 gnomAD v4
1g.21577564T>ACA338882404ALPLc.1491T>A (p.Cys497Ter)
n.760T>A
c.566T>A
c.1260T>A (p.Cys420Ter)
c.1326T>A (p.Cys442Ter)
c.1335T>A (p.Cys445Ter)
1g.21577564T>CCA416677694ALPLc.1491T>C (p.Cys497=)
n.760T>C
c.566T>C
c.1260T>C (p.Cys420=)
c.1326T>C (p.Cys442=)
c.1335T>C (p.Cys445=)
1g.21577564T>GCA338882406ALPLc.1491T>G (p.Cys497Trp)
n.760T>G
c.566T>G
c.1260T>G (p.Cys420Trp)
c.1326T>G (p.Cys442Trp)
c.1335T>G (p.Cys445Trp)
1g.21577565G>ACA666866ALPLc.1492G>A (p.Ala498Thr)
n.761G>A
c.567G>A
c.1261G>A (p.Ala421Thr)
c.1327G>A (p.Ala443Thr)
c.1336G>A (p.Ala446Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21577565G>CCA338882410ALPLc.1492G>C (p.Ala498Pro)
n.761G>C
c.567G>C
c.1261G>C (p.Ala421Pro)
c.1327G>C (p.Ala443Pro)
c.1336G>C (p.Ala446Pro)
1g.21577565G=CA1158020220ALPLc.1492G= (p.Ala498=)
n.761G=
c.567G=
c.1261G= (p.Ala421=)
c.1327G= (p.Ala443=)
c.1336G= (p.Ala446=)
1g.21577565G>TCA338882412ALPLc.1492G>T (p.Ala498Ser)
n.761G>T
c.567G>T
c.1261G>T (p.Ala421Ser)
c.1327G>T (p.Ala443Ser)
c.1336G>T (p.Ala446Ser)
 gnomAD v4
1g.21577566C>ACA338882415ALPLc.1493C>A (p.Ala498Asp)
n.762C>A
c.568C>A
c.1262C>A (p.Ala421Asp)
c.1328C>A (p.Ala443Asp)
c.1337C>A (p.Ala446Asp)
 COSMIC
1g.21577566C>GCA338882416ALPLc.1493C>G (p.Ala498Gly)
n.762C>G
c.568C>G
c.1262C>G (p.Ala421Gly)
c.1328C>G (p.Ala443Gly)
c.1337C>G (p.Ala446Gly)
1g.21577566C>TCA338882418ALPLc.1493C>T (p.Ala498Val)
n.762C>T
c.568C>T
c.1262C>T (p.Ala421Val)
c.1328C>T (p.Ala443Val)
c.1337C>T (p.Ala446Val)
 gnomAD v4
1g.21577567T>ACA416677700ALPLc.1494T>A (p.Ala498=)
n.763T>A
c.569T>A
c.1263T>A (p.Ala421=)
c.1329T>A (p.Ala443=)
c.1338T>A (p.Ala446=)
1g.21577567T>CCA416677697ALPLc.1494T>C (p.Ala498=)
n.763T>C
c.569T>C
c.1263T>C (p.Ala421=)
c.1329T>C (p.Ala443=)
c.1338T>C (p.Ala446=)
1g.21577567T>GCA416677699ALPLc.1494T>G (p.Ala498=)
n.763T>G
c.569T>G
c.1263T>G (p.Ala421=)
c.1329T>G (p.Ala443=)
c.1338T>G (p.Ala446=)
1g.21577568C>ACA338882421ALPLc.1495C>A (p.Pro499Thr)
n.764C>A
c.570C>A
c.1264C>A (p.Pro422Thr)
c.1330C>A (p.Pro444Thr)
c.1339C>A (p.Pro447Thr)
 gnomAD v4
1g.21577568C=CA1158020221ALPLc.1495C= (p.Pro499=)
n.764C=
c.570C=
c.1264C= (p.Pro422=)
c.1330C= (p.Pro444=)
c.1339C= (p.Pro447=)
1g.21577568C>GCA338882422ALPLc.1495C>G (p.Pro499Ala)
n.764C>G
c.570C>G
c.1264C>G (p.Pro422Ala)
c.1330C>G (p.Pro444Ala)
c.1339C>G (p.Pro447Ala)
1g.21577568C>TCA19072300ALPLc.1495C>T (p.Pro499Ser)
n.764C>T
c.570C>T
c.1264C>T (p.Pro422Ser)
c.1330C>T (p.Pro444Ser)
c.1339C>T (p.Pro447Ser)
 dbSNP
1g.21577569C>ACA338882429ALPLc.1496C>A (p.Pro499His)
n.765C>A
c.571C>A
c.1265C>A (p.Pro422His)
c.1331C>A (p.Pro444His)
c.1340C>A (p.Pro447His)
 gnomAD v4
1g.21577569C>GCA338882432ALPLc.1496C>G (p.Pro499Arg)
n.765C>G
c.571C>G
c.1265C>G (p.Pro422Arg)
c.1331C>G (p.Pro444Arg)
c.1340C>G (p.Pro447Arg)
1g.21577569C>TCA338882426ALPLc.1496C>T (p.Pro499Leu)
n.765C>T
c.571C>T
c.1265C>T (p.Pro422Leu)
c.1331C>T (p.Pro444Leu)
c.1340C>T (p.Pro447Leu)
 gnomAD v4
1g.21577570T>ACA416677705ALPLc.1497T>A (p.Pro499=)
n.766T>A
c.572T>A
c.1266T>A (p.Pro422=)
c.1332T>A (p.Pro444=)
c.1341T>A (p.Pro447=)
1g.21577570T>CCA19072303ALPLc.1497T>C (p.Pro499=)
n.766T>C
c.572T>C
c.1266T>C (p.Pro422=)
c.1332T>C (p.Pro444=)
c.1341T>C (p.Pro447=)
 ClinVar dbSNP gnomAD v4
1g.21577570T>GCA416677707ALPLc.1497T>G (p.Pro499=)
n.766T>G
c.572T>G
c.1266T>G (p.Pro422=)
c.1332T>G (p.Pro444=)
c.1341T>G (p.Pro447=)
1g.21577570T=CA1158020222ALPLc.1497T= (p.Pro499=)
n.766T=
c.572T=
c.1266T= (p.Pro422=)
c.1332T= (p.Pro444=)
c.1341T= (p.Pro447=)
1g.21577571G>ACA666867ALPLc.1498G>A (p.Ala500Thr)
n.767G>A
c.573G>A
c.1267G>A (p.Ala423Thr)
c.1333G>A (p.Ala445Thr)
c.1342G>A (p.Ala448Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21577571G>CCA338882435ALPLc.1498G>C (p.Ala500Pro)
n.767G>C
c.573G>C
c.1267G>C (p.Ala423Pro)
c.1333G>C (p.Ala445Pro)
c.1342G>C (p.Ala448Pro)
1g.21577571G=CA1158020223ALPLc.1498G= (p.Ala500=)
n.767G=
c.573G=
c.1267G= (p.Ala423=)
c.1333G= (p.Ala445=)
c.1342G= (p.Ala448=)
1g.21577571G>TCA338882436ALPLc.1498G>T (p.Ala500Ser)
n.767G>T
c.573G>T
c.1267G>T (p.Ala423Ser)
c.1333G>T (p.Ala445Ser)
c.1342G>T (p.Ala448Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.21577572C>ACA338882438ALPLc.1499C>A (p.Ala500Asp)
n.768C>A
c.574C>A
c.1268C>A (p.Ala423Asp)
c.1334C>A (p.Ala445Asp)
c.1343C>A (p.Ala448Asp)
 gnomAD v4
1g.21577572C>GCA338882439ALPLc.1499C>G (p.Ala500Gly)
n.768C>G
c.574C>G
c.1268C>G (p.Ala423Gly)
c.1334C>G (p.Ala445Gly)
c.1343C>G (p.Ala448Gly)
1g.21577572C>TCA338882441ALPLc.1499C>T (p.Ala500Val)
n.768C>T
c.574C>T
c.1268C>T (p.Ala423Val)
c.1334C>T (p.Ala445Val)
c.1343C>T (p.Ala448Val)
1g.21577572_21577573delinsGCA2695197981ALPLc.1499_1500delinsG (p.Ala500GlyfsTer21)
n.768_769delinsG
c.574_575delinsG
c.1268_1269delinsG (p.Ala423GlyfsTer21)
c.1334_1335delinsG (p.Ala445GlyfsTer21)
c.1343_1344delinsG (p.Ala448GlyfsTer21)
 ClinVar
1g.21577573C>ACA416677714ALPLc.1500C>A (p.Ala500=)
n.769C>A
c.575C>A
c.1269C>A (p.Ala423=)
c.1335C>A (p.Ala445=)
c.1344C>A (p.Ala448=)
1g.21577573C>GCA416677713ALPLc.1500C>G (p.Ala500=)
n.769C>G
c.575C>G
c.1269C>G (p.Ala423=)
c.1335C>G (p.Ala445=)
c.1344C>G (p.Ala448=)
1g.21577573C>TCA416677712ALPLc.1500C>T (p.Ala500=)
n.769C>T
c.575C>T
c.1269C>T (p.Ala423=)
c.1335C>T (p.Ala445=)
c.1344C>T (p.Ala448=)
 gnomAD v4

Number of alleles fetched