Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.207472878G>ACA423138946CR2c.1308G>A (p.Gly436=)
c.1297G>A
c.1677G>A (p.Gly559=)
c.127G>A (n.127G>A)
1g.207472878G>CCA423138947CR2c.1308G>C (p.Gly436=)
c.1297G>C
c.1677G>C (p.Gly559=)
c.127G>C (n.127G>C)
1g.207472878G>TCA423138948CR2c.1308G>T (p.Gly436=)
c.1297G>T
c.1677G>T (p.Gly559=)
c.127G>T (n.127G>T)
 gnomAD v4
1g.207472879C>ACA344533922CR2c.1309C>A (p.Pro437Thr)
c.1298C>A
c.1678C>A (p.Pro560Thr)
c.128C>A (n.128C>A)
 ClinVar dbSNP gnomAD v4
1g.207472879C=CA2483411839CR2c.1309C= (p.Pro437=)
c.1298C=
c.1678C= (p.Pro560=)
c.128C= (n.128C=)
1g.207472879C>GCA344533924CR2c.1309C>G (p.Pro437Ala)
c.1298C>G
c.1678C>G (p.Pro560Ala)
c.128C>G (n.128C>G)
1g.207472879C>TCA344533925CR2c.1309C>T (p.Pro437Ser)
c.1298C>T
c.1678C>T (p.Pro560Ser)
c.128C>T (n.128C>T)
 gnomAD v4
1g.207472880C>ACA344533928CR2c.1310C>A (p.Pro437Gln)
c.1299C>A
c.1679C>A (p.Pro560Gln)
c.129C>A (n.129C>A)
1g.207472880C>GCA344533930CR2c.1310C>G (p.Pro437Arg)
c.1299C>G
c.1679C>G (p.Pro560Arg)
c.129C>G (n.129C>G)
1g.207472880C>TCA344533931CR2c.1310C>T (p.Pro437Leu)
c.1299C>T
c.1679C>T (p.Pro560Leu)
c.129C>T (n.129C>T)
1g.207472881A>CCA423138949CR2c.1311A>C (p.Pro437=)
c.1300A>C
c.1680A>C (p.Pro560=)
c.130A>C (n.130A>C)
1g.207472881A>GCA423138950CR2c.1311A>G (p.Pro437=)
c.1300A>G
c.1680A>G (p.Pro560=)
c.130A>G (n.130A>G)
 gnomAD v4
1g.207472881A>TCA423138951CR2c.1311A>T (p.Pro437=)
c.1300A>T
c.1680A>T (p.Pro560=)
c.130A>T (n.130A>T)
1g.207472882G>ACA344533937CR2c.1312G>A (p.Glu438Lys)
c.1301G>A
c.1681G>A (p.Glu561Lys)
c.131G>A (n.131G>A)
 gnomAD v4
1g.207472882G>CCA344533936CR2c.1312G>C (p.Glu438Gln)
c.1301G>C
c.1681G>C (p.Glu561Gln)
c.131G>C (n.131G>C)
1g.207472882G>TCA344533934CR2c.1312G>T (p.Glu438Ter)
c.1301G>T
c.1681G>T (p.Glu561Ter)
c.131G>T (n.131G>T)
1g.207472883A>CCA344533940CR2c.1313A>C (p.Glu438Ala)
c.1302A>C
c.1682A>C (p.Glu561Ala)
c.132A>C (n.132A>C)
1g.207472883A>GCA344533944CR2c.1313A>G (p.Glu438Gly)
c.1302A>G
c.1682A>G (p.Glu561Gly)
c.132A>G (n.132A>G)
1g.207472883A>TCA344533942CR2c.1313A>T (p.Glu438Val)
c.1302A>T
c.1682A>T (p.Glu561Val)
c.132A>T (n.132A>T)
1g.207472884A=CA2483411841CR2c.1314A= (p.Glu438=)
c.1303A=
c.1683A= (p.Glu561=)
c.133A= (n.133A=)
1g.207472884A>CCA344533946CR2c.1314A>C (p.Glu438Asp)
c.1303A>C
c.1683A>C (p.Glu561Asp)
c.133A>C (n.133A>C)
1g.207472884A>GCA423138952CR2c.1314A>G (p.Glu438=)
c.1303A>G
c.1683A>G (p.Glu561=)
c.133A>G (n.133A>G)
 dbSNP gnomAD v4
1g.207472884A>TCA344533947CR2c.1314A>T (p.Glu438Asp)
c.1303A>T
c.1683A>T (p.Glu561Asp)
c.133A>T (n.133A>T)
 gnomAD v4
1g.207472884_207472886delinsAAGCA2483411840CR2c.1314_1316delinsAAG (p.Glu438=)
c.1303_1305delinsAAG
c.1683_1685delinsAAG (p.Glu561=)
c.133_135delinsAAG (n.133_135delinsAAG)
1g.207472885A>CCA423138953CR2c.1315A>C (p.Arg439=)
c.1304A>C
c.1684A>C (p.Arg562=)
c.134A>C (n.134A>C)
1g.207472885A>GCA344533950CR2c.1315A>G (p.Arg439Gly)
c.1304A>G
c.1684A>G (p.Arg562Gly)
c.134A>G (n.134A>G)
1g.207472885A>TCA344533952CR2c.1315A>T (p.Arg439Ter)
c.1304A>T
c.1684A>T (p.Arg562Ter)
c.134A>T (n.134A>T)
1g.207472887_207472888delCA730656730CR2c.1317_1318del (p.Gly440SerfsTer17)
c.1306_1307del
c.1686_1687del (p.Gly563SerfsTer17)
c.136_137del (n.136_137del)
 dbSNP gnomAD v3 gnomAD v4
1g.207472886G>ACA1368792CR2c.1316G>A (p.Arg439Lys)
c.1305G>A
c.1685G>A (p.Arg562Lys)
c.135G>A (n.135G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207472886G>CCA1368793CR2c.1316G>C (p.Arg439Thr)
c.1305G>C
c.1685G>C (p.Arg562Thr)
c.135G>C (n.135G>C)
 dbSNP ExAC gnomAD v2
1g.207472886G=CA1142373311CR2c.1316G= (p.Arg439=)
c.1305G=
c.1685G= (p.Arg562=)
c.135G= (n.135G=)
1g.207472886G>TCA344533957CR2c.1316G>T (p.Arg439Ile)
c.1305G>T
c.1685G>T (p.Arg562Ile)
c.135G>T (n.135G>T)
1g.207472887A>CCA344533959CR2c.1317A>C (p.Arg439Ser)
c.1306A>C
c.1686A>C (p.Arg562Ser)
c.136A>C (n.136A>C)
1g.207472887A>GCA423138954CR2c.1317A>G (p.Arg439=)
c.1306A>G
c.1686A>G (p.Arg562=)
c.136A>G (n.136A>G)
1g.207472887A>TCA344533961CR2c.1317A>T (p.Arg439Ser)
c.1306A>T
c.1686A>T (p.Arg562Ser)
c.136A>T (n.136A>T)
1g.207472888G>ACA1368794CR2c.1318G>A (p.Gly440Arg)
c.1307G>A
c.1687G>A (p.Gly563Arg)
c.137G>A (n.137G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207472888G>CCA344533964CR2c.1318G>C (p.Gly440Arg)
c.1307G>C
c.1687G>C (p.Gly563Arg)
c.137G>C (n.137G>C)
1g.207472888G=CA1142222760CR2c.1318G= (p.Gly440=)
c.1307G=
c.1687G= (p.Gly563=)
c.137G= (n.137G=)
1g.207472888G>TCA344533965CR2c.1318G>T (p.Gly440Ter)
c.1307G>T
c.1687G>T (p.Gly563Ter)
c.137G>T (n.137G>T)
1g.207472889G>ACA1368795CR2c.1319G>A (p.Gly440Glu)
c.1308G>A
c.1688G>A (p.Gly563Glu)
c.138G>A (n.138G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207472889G>CCA344533969CR2c.1319G>C (p.Gly440Ala)
c.1308G>C
c.1688G>C (p.Gly563Ala)
c.138G>C (n.138G>C)
1g.207472889G=CA1142135130CR2c.1319G= (p.Gly440=)
c.1308G=
c.1688G= (p.Gly563=)
c.138G= (n.138G=)
1g.207472889G>TCA344533970CR2c.1319G>T (p.Gly440Val)
c.1308G>T
c.1688G>T (p.Gly563Val)
c.138G>T (n.138G>T)
1g.207472890delCA2650263602CR2c.1320del (p.Val441TrpfsTer?)
c.1309del
c.1689del (p.Val564TrpfsTer?)
c.139del (n.139del)
 gnomAD v4
1g.207472890A>CCA423138955CR2c.1320A>C (p.Gly440=)
c.1309A>C
c.1689A>C (p.Gly563=)
c.139A>C (n.139A>C)
1g.207472890A>GCA423138956CR2c.1320A>G (p.Gly440=)
c.1309A>G
c.1689A>G (p.Gly563=)
c.139A>G (n.139A>G)
1g.207472890A>TCA423138957CR2c.1320A>T (p.Gly440=)
c.1309A>T
c.1689A>T (p.Gly563=)
c.139A>T (n.139A>T)
1g.207472891G>ACA344533974CR2c.1321G>A (p.Val441Met)
c.1310G>A
c.1690G>A (p.Val564Met)
c.140G>A (n.140G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.207472891G>CCA344533976CR2c.1321G>C (p.Val441Leu)
c.1310G>C
c.1690G>C (p.Val564Leu)
c.140G>C (n.140G>C)
 dbSNP
1g.207472891G=CA2483411842CR2c.1321G= (p.Val441=)
c.1310G=
c.1690G= (p.Val564=)
c.140G= (n.140G=)
1g.207472891G>TCA344533977CR2c.1321G>T (p.Val441Leu)
c.1310G>T
c.1690G>T (p.Val564Leu)
c.140G>T (n.140G>T)
1g.207472892T>ACA344533979CR2c.1322T>A (p.Val441Glu)
c.1311T>A
c.1691T>A (p.Val564Glu)
c.141T>A (n.141T>A)
 dbSNP gnomAD v3 gnomAD v4
1g.207472892T>CCA344533981CR2c.1322T>C (p.Val441Ala)
c.1311T>C
c.1691T>C (p.Val564Ala)
c.141T>C (n.141T>C)
1g.207472892T>GCA344533983CR2c.1322T>G (p.Val441Gly)
c.1311T>G
c.1691T>G (p.Val564Gly)
c.141T>G (n.141T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.207472892T=CA2483411843CR2c.1322T= (p.Val441=)
c.1311T=
c.1691T= (p.Val564=)
c.141T= (n.141T=)
1g.207472893G>ACA423138958CR2c.1323G>A (p.Val441=)
c.1312G>A
c.1692G>A (p.Val564=)
c.142G>A (n.142G>A)
1g.207472893G>CCA423138959CR2c.1323G>C (p.Val441=)
c.1312G>C
c.1692G>C (p.Val564=)
c.142G>C (n.142G>C)
1g.207472893G>TCA423138960CR2c.1323G>T (p.Val441=)
c.1312G>T
c.1692G>T (p.Val564=)
c.142G>T (n.142G>T)
1g.207472894G>ACA36652140CR2c.1324G>A (p.Glu442Lys)
c.1313G>A
c.1693G>A (p.Glu565Lys)
c.143G>A (n.143G>A)
 dbSNP
1g.207472894G>CCA344533987CR2c.1324G>C (p.Glu442Gln)
c.1313G>C
c.1693G>C (p.Glu565Gln)
c.143G>C (n.143G>C)
1g.207472894G=CA2483411844CR2c.1324G= (p.Glu442=)
c.1313G=
c.1693G= (p.Glu565=)
c.143G= (n.143G=)
1g.207472894G>TCA344533988CR2c.1324G>T (p.Glu442Ter)
c.1313G>T
c.1693G>T (p.Glu565Ter)
c.143G>T (n.143G>T)
 dbSNP
1g.207472895A>CCA344533991CR2c.1325A>C (p.Glu442Ala)
c.1314A>C
c.1694A>C (p.Glu565Ala)
c.144A>C (n.144A>C)
1g.207472895A>GCA344533992CR2c.1325A>G (p.Glu442Gly)
c.1314A>G
c.1694A>G (p.Glu565Gly)
c.144A>G (n.144A>G)
1g.207472895A>TCA344533994CR2c.1325A>T (p.Glu442Val)
c.1314A>T
c.1694A>T (p.Glu565Val)
c.144A>T (n.144A>T)
1g.207472896A>CCA344533997CR2c.1326A>C (p.Glu442Asp)
c.1315A>C
c.1695A>C (p.Glu565Asp)
c.145A>C (n.145A>C)
1g.207472896A>GCA423138961CR2c.1326A>G (p.Glu442=)
c.1315A>G
c.1695A>G (p.Glu565=)
c.145A>G (n.145A>G)
1g.207472896A>TCA344533999CR2c.1326A>T (p.Glu442Asp)
c.1315A>T
c.1695A>T (p.Glu565Asp)
c.145A>T (n.145A>T)
1g.207472897T>ACA344534001CR2c.1327T>A (p.Phe443Ile)
c.1316T>A
c.1696T>A (p.Phe566Ile)
c.146T>A (n.146T>A)
1g.207472897T>CCA344534003CR2c.1327T>C (p.Phe443Leu)
c.1316T>C
c.1696T>C (p.Phe566Leu)
c.146T>C (n.146T>C)
1g.207472897T>GCA344534005CR2c.1327T>G (p.Phe443Val)
c.1316T>G
c.1696T>G (p.Phe566Val)
c.146T>G (n.146T>G)
1g.207472898T>ACA344534007CR2c.1328T>A (p.Phe443Tyr)
c.1317T>A
c.1697T>A (p.Phe566Tyr)
c.147T>A (n.147T>A)
1g.207472898T>CCA344534009CR2c.1328T>C (p.Phe443Ser)
c.1317T>C
c.1697T>C (p.Phe566Ser)
c.147T>C (n.147T>C)
1g.207472898T>GCA344534010CR2c.1328T>G (p.Phe443Cys)
c.1317T>G
c.1697T>G (p.Phe566Cys)
c.147T>G (n.147T>G)
1g.207472899C>ACA344534013CR2c.1329C>A (p.Phe443Leu)
c.1318C>A
c.1698C>A (p.Phe566Leu)
c.148C>A (n.148C>A)
1g.207472899C>GCA344534015CR2c.1329C>G (p.Phe443Leu)
c.1318C>G
c.1698C>G (p.Phe566Leu)
c.148C>G (n.148C>G)
1g.207472899C>TCA423138962CR2c.1329C>T (p.Phe443=)
c.1318C>T
c.1698C>T (p.Phe566=)
c.148C>T (n.148C>T)
1g.207472900A>CCA344534018CR2c.1330A>C (p.Ser444Arg)
c.1319A>C
c.1699A>C (p.Ser567Arg)
c.149A>C (n.149A>C)
1g.207472900A>GCA344534020CR2c.1330A>G (p.Ser444Gly)
c.1319A>G
c.1699A>G (p.Ser567Gly)
c.149A>G (n.149A>G)
1g.207472900A>TCA344534021CR2c.1330A>T (p.Ser444Cys)
c.1319A>T
c.1699A>T (p.Ser567Cys)
c.149A>T (n.149A>T)
1g.207472901G>ACA344534024CR2c.1331G>A (p.Ser444Asn)
c.1320G>A
c.1700G>A (p.Ser567Asn)
c.150G>A (n.150G>A)
1g.207472901G>CCA344534025CR2c.1331G>C (p.Ser444Thr)
c.1320G>C
c.1700G>C (p.Ser567Thr)
c.150G>C (n.150G>C)
 ClinVar dbSNP COSMIC
1g.207472901G=CA2483411845CR2c.1331G= (p.Ser444=)
c.1320G=
c.1700G= (p.Ser567=)
c.150G= (n.150G=)
1g.207472901G>TCA344534027CR2c.1331G>T (p.Ser444Ile)
c.1320G>T
c.1700G>T (p.Ser567Ile)
c.150G>T (n.150G>T)
1g.207472902C>ACA344534029CR2c.1332C>A (p.Ser444Arg)
c.1321C>A
c.1701C>A (p.Ser567Arg)
c.151C>A (n.151C>A)
1g.207472902C=CA2483411846CR2c.1332C= (p.Ser444=)
c.1321C=
c.1701C= (p.Ser567=)
c.151C= (n.151C=)
1g.207472902C>GCA344534031CR2c.1332C>G (p.Ser444Arg)
c.1321C>G
c.1701C>G (p.Ser567Arg)
c.151C>G (n.151C>G)
1g.207472902C>TCA423138963CR2c.1332C>T (p.Ser444=)
c.1321C>T
c.1701C>T (p.Ser567=)
c.151C>T (n.151C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.207472903C>ACA344534033CR2c.1333C>A (p.Leu445Ile)
c.1322C>A
c.1702C>A (p.Leu568Ile)
 COSMIC
1g.207472903C>GCA344534036CR2c.1333C>G (p.Leu445Val)
c.1322C>G
c.1702C>G (p.Leu568Val)
1g.207472903C>TCA344534037CR2c.1333C>T (p.Leu445Phe)
c.1322C>T
c.1702C>T (p.Leu568Phe)
1g.207472904T>ACA344534039CR2c.1334T>A (p.Leu445His)
c.1323T>A
c.1703T>A (p.Leu568His)
1g.207472904T>CCA1368796CR2c.1334T>C (p.Leu445Pro)
c.1323T>C
c.1703T>C (p.Leu568Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207472904T>GCA344534042CR2c.1334T>G (p.Leu445Arg)
c.1323T>G
c.1703T>G (p.Leu568Arg)
1g.207472904T=CA1141933736CR2c.1334T= (p.Leu445=)
c.1323T=
c.1703T= (p.Leu568=)
1g.207472905C>ACA423138964CR2c.1335C>A (p.Leu445=)
c.1324C>A
c.1704C>A (p.Leu568=)
1g.207472905C=CA2483411847CR2c.1335C= (p.Leu445=)
c.1324C=
c.1704C= (p.Leu568=)
1g.207472905C>GCA423138965CR2c.1335C>G (p.Leu445=)
c.1324C>G
c.1704C>G (p.Leu568=)
1g.207472905C>TCA1368797CR2c.1335C>T (p.Leu445=)
c.1324C>T
c.1704C>T (p.Leu568=)
 dbSNP ExAC gnomAD v2
1g.207472906A=CA2483411848CR2c.1336A= (p.Ile446=)
c.1325A=
c.1705A= (p.Ile569=)
1g.207472906A>CCA344534046CR2c.1336A>C (p.Ile446Leu)
c.1325A>C
c.1705A>C (p.Ile569Leu)
1g.207472906A>GCA344534048CR2c.1336A>G (p.Ile446Val)
c.1325A>G
c.1705A>G (p.Ile569Val)
 gnomAD v4
1g.207472906A>TCA344534050CR2c.1336A>T (p.Ile446Phe)
c.1325A>T
c.1705A>T (p.Ile569Phe)
 dbSNP gnomAD v4
1g.207472907T>ACA344534051CR2c.1337T>A (p.Ile446Asn)
c.1326T>A
c.1706T>A (p.Ile569Asn)
1g.207472907T>CCA344534053CR2c.1337T>C (p.Ile446Thr)
c.1326T>C
c.1706T>C (p.Ile569Thr)
 ClinVar gnomAD v4
1g.207472907T>GCA344534055CR2c.1337T>G (p.Ile446Ser)
c.1326T>G
c.1706T>G (p.Ile569Ser)
1g.207472908T>ACA423138966CR2c.1338T>A (p.Ile446=)
c.1327T>A
c.1707T>A (p.Ile569=)
1g.207472908T>CCA423138967CR2c.1338T>C (p.Ile446=)
c.1327T>C
c.1707T>C (p.Ile569=)
1g.207472908T>GCA344534057CR2c.1338T>G (p.Ile446Met)
c.1327T>G
c.1707T>G (p.Ile569Met)
1g.207472909G>ACA344534062CR2c.1339G>A (p.Gly447Arg)
c.1328G>A
c.1708G>A (p.Gly570Arg)
1g.207472909G>CCA344534060CR2c.1339G>C (p.Gly447Arg)
c.1328G>C
c.1708G>C (p.Gly570Arg)
1g.207472909G>TCA344534064CR2c.1339G>T (p.Gly447Ter)
c.1328G>T
c.1708G>T (p.Gly570Ter)
 gnomAD v4
1g.207472910G>ACA344534067CR2c.1340G>A (p.Gly447Glu)
c.1329G>A
c.1709G>A (p.Gly570Glu)
1g.207472910G>CCA344534068CR2c.1340G>C (p.Gly447Ala)
c.1329G>C
c.1709G>C (p.Gly570Ala)
1g.207472910G>TCA344534070CR2c.1340G>T (p.Gly447Val)
c.1329G>T
c.1709G>T (p.Gly570Val)
 gnomAD v4
1g.207472911A=CA2483411849CR2c.1341A= (p.Gly447=)
c.1330A=
c.1710A= (p.Gly570=)
1g.207472911A>CCA423138969CR2c.1341A>C (p.Gly447=)
c.1330A>C
c.1710A>C (p.Gly570=)
 dbSNP
1g.207472911A>GCA423138970CR2c.1341A>G (p.Gly447=)
c.1330A>G
c.1710A>G (p.Gly570=)
1g.207472911A>TCA423138971CR2c.1341A>T (p.Gly447=)
c.1330A>T
c.1710A>T (p.Gly570=)
1g.207472912G>ACA344534073CR2c.1342G>A (p.Glu448Lys)
c.1331G>A
c.1711G>A (p.Glu571Lys)
1g.207472912G>CCA344534074CR2c.1342G>C (p.Glu448Gln)
c.1331G>C
c.1711G>C (p.Glu571Gln)
1g.207472912G>TCA344534077CR2c.1342G>T (p.Glu448Ter)
c.1331G>T
c.1711G>T (p.Glu571Ter)
1g.207472912_207472913delinsGACA2483411850CR2c.1342_1343delinsGA (p.Glu448=)
c.1331_1332delinsGA
c.1711_1712delinsGA (p.Glu571=)
1g.207472913delCA730656777CR2c.1343del (p.Glu448GlyfsTer?)
c.1332del
c.1712del (p.Glu571GlyfsTer?)
 dbSNP gnomAD v3 gnomAD v4
1g.207472913A>CCA344534083CR2c.1343A>C (p.Glu448Ala)
c.1332A>C
c.1712A>C (p.Glu571Ala)
1g.207472913A>GCA344534080CR2c.1343A>G (p.Glu448Gly)
c.1332A>G
c.1712A>G (p.Glu571Gly)
1g.207472913A>TCA344534082CR2c.1343A>T (p.Glu448Val)
c.1332A>T
c.1712A>T (p.Glu571Val)
1g.207472913_207472914insTAACAGGGGGTCA2570393177CR2c.1343_1344insTAACAGGGGGT (p.Glu448AspfsTer5)
c.1332_1333insTAACAGGGGGT
c.1712_1713insTAACAGGGGGT (p.Glu571AspfsTer5)
1g.207472914G>ACA423138973CR2c.1344G>A (p.Glu448=)
c.1333G>A
c.1713G>A (p.Glu571=)
 gnomAD v4
1g.207472914G>CCA1368798CR2c.1344G>C (p.Glu448Asp)
c.1333G>C
c.1713G>C (p.Glu571Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.207472914G=CA2483411851CR2c.1344G= (p.Glu448=)
c.1333G=
c.1713G= (p.Glu571=)
1g.207472914G>TCA344534086CR2c.1344G>T (p.Glu448Asp)
c.1333G>T
c.1713G>T (p.Glu571Asp)
1g.207472915A>CCA344534088CR2c.1345A>C (p.Ser449Arg)
c.1334A>C
c.1714A>C (p.Ser572Arg)
1g.207472915A>GCA344534090CR2c.1345A>G (p.Ser449Gly)
c.1334A>G
c.1714A>G (p.Ser572Gly)
 gnomAD v4
1g.207472915A>TCA344534092CR2c.1345A>T (p.Ser449Cys)
c.1334A>T
c.1714A>T (p.Ser572Cys)
1g.207472916G>ACA344534094CR2c.1346G>A (p.Ser449Asn)
c.1335G>A
c.1715G>A (p.Ser572Asn)
1g.207472916G>CCA344534098CR2c.1346G>C (p.Ser449Thr)
c.1335G>C
c.1715G>C (p.Ser572Thr)
 gnomAD v4
1g.207472916G>TCA344534096CR2c.1346G>T (p.Ser449Ile)
c.1335G>T
c.1715G>T (p.Ser572Ile)
1g.207472917C>ACA344534100CR2c.1347C>A (p.Ser449Arg)
c.1336C>A
c.1716C>A (p.Ser572Arg)
1g.207472917C>GCA344534102CR2c.1347C>G (p.Ser449Arg)
c.1336C>G
c.1716C>G (p.Ser572Arg)
1g.207472917C>TCA423138976CR2c.1347C>T (p.Ser449=)
c.1336C>T
c.1716C>T (p.Ser572=)
 ClinVar gnomAD v4
1g.207472918A=CA2483411852CR2c.1348A= (p.Thr450=)
c.1337A=
c.1717A= (p.Thr573=)
1g.207472918A>CCA344534104CR2c.1348A>C (p.Thr450Pro)
c.1337A>C
c.1717A>C (p.Thr573Pro)
 dbSNP
1g.207472918A>GCA344534106CR2c.1348A>G (p.Thr450Ala)
c.1337A>G
c.1717A>G (p.Thr573Ala)
1g.207472918A>TCA344534108CR2c.1348A>T (p.Thr450Ser)
c.1337A>T
c.1717A>T (p.Thr573Ser)
1g.207472919C>ACA344534110CR2c.1349C>A (p.Thr450Asn)
c.1338C>A
c.1718C>A (p.Thr573Asn)
1g.207472919C>GCA344534112CR2c.1349C>G (p.Thr450Ser)
c.1338C>G
c.1718C>G (p.Thr573Ser)
1g.207472919C>TCA344534113CR2c.1349C>T (p.Thr450Ile)
c.1338C>T
c.1718C>T (p.Thr573Ile)
 COSMIC
1g.207472920C>ACA423138983CR2c.1350C>A (p.Thr450=)
c.1339C>A
c.1719C>A (p.Thr573=)
1g.207472920C>GCA423138985CR2c.1350C>G (p.Thr450=)
c.1339C>G
c.1719C>G (p.Thr573=)
1g.207472920C>TCA423138986CR2c.1350C>T (p.Thr450=)
c.1339C>T
c.1719C>T (p.Thr573=)
1g.207472921A=CA2483411853CR2c.1351A= (p.Ile451=)
c.1340A=
c.1720A= (p.Ile574=)
1g.207472921A>CCA344534116CR2c.1351A>C (p.Ile451Leu)
c.1340A>C
c.1720A>C (p.Ile574Leu)
1g.207472921A>GCA1368799CR2c.1351A>G (p.Ile451Val)
c.1340A>G
c.1720A>G (p.Ile574Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.207472921A>TCA344534119CR2c.1351A>T (p.Ile451Phe)
c.1340A>T
c.1720A>T (p.Ile574Phe)
1g.207472922T>ACA344534125CR2c.1352T>A (p.Ile451Asn)
c.1341T>A
c.1721T>A (p.Ile574Asn)
1g.207472922T>CCA344534123CR2c.1352T>C (p.Ile451Thr)
c.1341T>C
c.1721T>C (p.Ile574Thr)
1g.207472922T>GCA344534121CR2c.1352T>G (p.Ile451Ser)
c.1341T>G
c.1721T>G (p.Ile574Ser)
1g.207472923C>ACA423138990CR2c.1353C>A (p.Ile451=)
c.1342C>A
c.1722C>A (p.Ile574=)
1g.207472923C=CA2483411854CR2c.1353C= (p.Ile451=)
c.1342C=
c.1722C= (p.Ile574=)
1g.207472923C>GCA344534128CR2c.1353C>G (p.Ile451Met)
c.1342C>G
c.1722C>G (p.Ile574Met)
1g.207472923C>TCA1368800CR2c.1353C>T (p.Ile451=)
c.1342C>T
c.1722C>T (p.Ile574=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207472924C>ACA344534130CR2c.1354C>A (p.Arg452Ser)
c.1343C>A
c.1723C>A (p.Arg575Ser)
1g.207472924C=CA2483411855CR2c.1354C= (p.Arg452=)
c.1343C=
c.1723C= (p.Arg575=)
1g.207472924C>GCA344534132CR2c.1354C>G (p.Arg452Gly)
c.1343C>G
c.1723C>G (p.Arg575Gly)
1g.207472924C>TCA1368801CR2c.1354C>T (p.Arg452Cys)
c.1343C>T
c.1723C>T (p.Arg575Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.207472925G>ACA1368802CR2c.1355G>A (p.Arg452His)
c.1344G>A
c.1724G>A (p.Arg575His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207472925G>CCA344534136CR2c.1355G>C (p.Arg452Pro)
c.1344G>C
c.1724G>C (p.Arg575Pro)
1g.207472925G=CA2483411856CR2c.1355G= (p.Arg452=)
c.1344G=
c.1724G= (p.Arg575=)
1g.207472925G>TCA344534137CR2c.1355G>T (p.Arg452Leu)
c.1344G>T
c.1724G>T (p.Arg575Leu)
1g.207472926T>ACA423138993CR2c.1356T>A (p.Arg452=)
c.1345T>A
c.1725T>A (p.Arg575=)
1g.207472926T>CCA1368803CR2c.1356T>C (p.Arg452=)
c.1345T>C
c.1725T>C (p.Arg575=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207472926T>GCA423138995CR2c.1356T>G (p.Arg452=)
c.1345T>G
c.1725T>G (p.Arg575=)
1g.207472926T=CA2483411857CR2c.1356T= (p.Arg452=)
c.1345T=
c.1725T= (p.Arg575=)
1g.207472927T>ACA344534141CR2c.1357T>A (p.Cys453Ser)
c.1346T>A
c.1726T>A (p.Cys576Ser)
1g.207472927T>CCA344534143CR2c.1357T>C (p.Cys453Arg)
c.1346T>C
c.1726T>C (p.Cys576Arg)
 gnomAD v4
1g.207472927T>GCA344534145CR2c.1357T>G (p.Cys453Gly)
c.1346T>G
c.1726T>G (p.Cys576Gly)
1g.207472928G>ACA344534147CR2c.1358G>A (p.Cys453Tyr)
c.1347G>A
c.1727G>A (p.Cys576Tyr)
1g.207472928G>CCA344534149CR2c.1358G>C (p.Cys453Ser)
c.1347G>C
c.1727G>C (p.Cys576Ser)
1g.207472928G>TCA344534151CR2c.1358G>T (p.Cys453Phe)
c.1347G>T
c.1727G>T (p.Cys576Phe)
1g.207472929T>ACA344534155CR2c.1359T>A (p.Cys453Ter)
c.1348T>A
c.1728T>A (p.Cys576Ter)
1g.207472929T>CCA36652156CR2c.1359T>C (p.Cys453=)
c.1348T>C
c.1728T>C (p.Cys576=)
 dbSNP gnomAD v2
1g.207472929T>GCA344534153CR2c.1359T>G (p.Cys453Trp)
c.1348T>G
c.1728T>G (p.Cys576Trp)
1g.207472929T=CA2483411858CR2c.1359T= (p.Cys453=)
c.1348T=
c.1728T= (p.Cys576=)
1g.207472930A>CCA344534157CR2c.1360A>C (p.Thr454Pro)
c.1349A>C
c.1729A>C (p.Thr577Pro)
1g.207472930A>GCA344534159CR2c.1360A>G (p.Thr454Ala)
c.1349A>G
c.1729A>G (p.Thr577Ala)
 gnomAD v4
1g.207472930A>TCA344534161CR2c.1360A>T (p.Thr454Ser)
c.1349A>T
c.1729A>T (p.Thr577Ser)
1g.207472931C>ACA344534163CR2c.1361C>A (p.Thr454Lys)
c.1350C>A
c.1730C>A (p.Thr577Lys)
 gnomAD v4
1g.207472931C>GCA344534166CR2c.1361C>G (p.Thr454Arg)
c.1350C>G
c.1730C>G (p.Thr577Arg)
1g.207472931C>TCA344534168CR2c.1361C>T (p.Thr454Ile)
c.1350C>T
c.1730C>T (p.Thr577Ile)
 gnomAD v4
1g.207472932A>CCA423139001CR2c.1362A>C (p.Thr454=)
c.1351A>C
c.1731A>C (p.Thr577=)
 gnomAD v4
1g.207472932A>GCA423139002CR2c.1362A>G (p.Thr454=)
c.1351A>G
c.1731A>G (p.Thr577=)
1g.207472932A>TCA423139003CR2c.1362A>T (p.Thr454=)
c.1351A>T
c.1731A>T (p.Thr577=)
1g.207472933A>CCA344534171CR2c.1363A>C (p.Ser455Arg)
c.1352A>C
c.1732A>C (p.Ser578Arg)
1g.207472933A>GCA344534172CR2c.1363A>G (p.Ser455Gly)
c.1352A>G
c.1732A>G (p.Ser578Gly)
1g.207472933A>TCA344534174CR2c.1363A>T (p.Ser455Cys)
c.1352A>T
c.1732A>T (p.Ser578Cys)
1g.207472934G>ACA344534176CR2c.1364G>A (p.Ser455Asn)
c.1353G>A
c.1733G>A (p.Ser578Asn)
1g.207472934G>CCA344534178CR2c.1364G>C (p.Ser455Thr)
c.1353G>C
c.1733G>C (p.Ser578Thr)
1g.207472934G>TCA344534180CR2c.1364G>T (p.Ser455Ile)
c.1353G>T
c.1733G>T (p.Ser578Ile)
1g.207472935C>ACA344534182CR2c.1365C>A (p.Ser455Arg)
c.1354C>A
c.1734C>A (p.Ser578Arg)
1g.207472935C=CA2483411859CR2c.1365C= (p.Ser455=)
c.1354C=
c.1734C= (p.Ser578=)
1g.207472935C>GCA1368804CR2c.1365C>G (p.Ser455Arg)
c.1354C>G
c.1734C>G (p.Ser578Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207472935C>TCA423139008CR2c.1365C>T (p.Ser455=)
c.1354C>T
c.1734C>T (p.Ser578=)
1g.207472936A>CCA344534187CR2c.1366A>C (p.Asn456His)
c.1355A>C
c.1735A>C (p.Asn579His)
1g.207472936A>GCA344534188CR2c.1366A>G (p.Asn456Asp)
c.1355A>G
c.1735A>G (p.Asn579Asp)
1g.207472936A>TCA344534185CR2c.1366A>T (p.Asn456Tyr)
c.1355A>T
c.1735A>T (p.Asn579Tyr)
1g.207472937A=CA2483411860CR2c.1367A= (p.Asn456=)
c.1356A=
c.1736A= (p.Asn579=)
1g.207472937A>CCA344534190CR2c.1367A>C (p.Asn456Thr)
c.1356A>C
c.1736A>C (p.Asn579Thr)
1g.207472937A>GCA1368805CR2c.1367A>G (p.Asn456Ser)
c.1356A>G
c.1736A>G (p.Asn579Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207472937A>TCA344534192CR2c.1367A>T (p.Asn456Ile)
c.1356A>T
c.1736A>T (p.Asn579Ile)
1g.207472938T>ACA344534195CR2c.1368T>A (p.Asn456Lys)
c.1357T>A
c.1737T>A (p.Asn579Lys)
1g.207472938T>CCA36652161CR2c.1368T>C (p.Asn456=)
c.1357T>C
c.1737T>C (p.Asn579=)
 dbSNP
1g.207472938T>GCA344534198CR2c.1368T>G (p.Asn456Lys)
c.1357T>G
c.1737T>G (p.Asn579Lys)
 gnomAD v4
1g.207472938T=CA2483411861CR2c.1368T= (p.Asn456=)
c.1357T=
c.1737T= (p.Asn579=)
1g.207472939G>ACA344534200CR2c.1369G>A (p.Asp457Asn)
c.1358G>A
c.1738G>A (p.Asp580Asn)
1g.207472939G>CCA344534202CR2c.1369G>C (p.Asp457His)
c.1358G>C
c.1738G>C (p.Asp580His)
1g.207472939G>TCA344534203CR2c.1369G>T (p.Asp457Tyr)
c.1358G>T
c.1738G>T (p.Asp580Tyr)
1g.207472940A>CCA344534205CR2c.1370A>C (p.Asp457Ala)
c.1359A>C
c.1739A>C (p.Asp580Ala)
1g.207472940A>GCA344534207CR2c.1370A>G (p.Asp457Gly)
c.1359A>G
c.1739A>G (p.Asp580Gly)
1g.207472940A>TCA344534208CR2c.1370A>T (p.Asp457Val)
c.1359A>T
c.1739A>T (p.Asp580Val)
 gnomAD v4
1g.207472941_207472948delCA2573996289CR2c.1371_1378del (p.Asp457GlufsTer12)
c.1360_1367del
c.1740_1747del (p.Asp580GlufsTer12)
1g.207472941T>ACA344534211CR2c.1371T>A (p.Asp457Glu)
c.1360T>A
c.1740T>A (p.Asp580Glu)
1g.207472941T>CCA423139016CR2c.1371T>C (p.Asp457=)
c.1360T>C
c.1740T>C (p.Asp580=)
 dbSNP
1g.207472941T>GCA344534213CR2c.1371T>G (p.Asp457Glu)
c.1360T>G
c.1740T>G (p.Asp580Glu)
1g.207472941T=CA2483411862CR2c.1371T= (p.Asp457=)
c.1360T=
c.1740T= (p.Asp580=)
1g.207472942delCA2573996295CR2c.1372del (p.Gln458LysfsTer?)
c.1361del
c.1741del (p.Gln581LysfsTer?)
1g.207472942C>ACA344534215CR2c.1372C>A (p.Gln458Lys)
c.1361C>A
c.1741C>A (p.Gln581Lys)
1g.207472942C>GCA344534217CR2c.1372C>G (p.Gln458Glu)
c.1361C>G
c.1741C>G (p.Gln581Glu)
1g.207472942C>TCA344534218CR2c.1372C>T (p.Gln458Ter)
c.1361C>T
c.1741C>T (p.Gln581Ter)
 gnomAD v4
1g.207472943A>CCA344534220CR2c.1373A>C (p.Gln458Pro)
c.1362A>C
c.1742A>C (p.Gln581Pro)
1g.207472943A>GCA344534223CR2c.1373A>G (p.Gln458Arg)
c.1362A>G
c.1742A>G (p.Gln581Arg)
1g.207472943A>TCA344534221CR2c.1373A>T (p.Gln458Leu)
c.1362A>T
c.1742A>T (p.Gln581Leu)
1g.207472944A>CCA344534225CR2c.1374A>C (p.Gln458His)
c.1363A>C
c.1743A>C (p.Gln581His)
1g.207472944A>GCA423139023CR2c.1374A>G (p.Gln458=)
c.1363A>G
c.1743A>G (p.Gln581=)
1g.207472944A>TCA344534227CR2c.1374A>T (p.Gln458His)
c.1363A>T
c.1743A>T (p.Gln581His)
1g.207472945G>ACA344534228CR2c.1375G>A (p.Glu459Lys)
c.1364G>A
c.1744G>A (p.Glu582Lys)
1g.207472945G>CCA344534230CR2c.1375G>C (p.Glu459Gln)
c.1364G>C
c.1744G>C (p.Glu582Gln)
1g.207472945G>TCA344534232CR2c.1375G>T (p.Glu459Ter)
c.1364G>T
c.1744G>T (p.Glu582Ter)
 gnomAD v4
1g.207472946A>CCA344534234CR2c.1376A>C (p.Glu459Ala)
c.1365A>C
c.1745A>C (p.Glu582Ala)
1g.207472946A>GCA344534236CR2c.1376A>G (p.Glu459Gly)
c.1365A>G
c.1745A>G (p.Glu582Gly)
1g.207472946A>TCA344534238CR2c.1376A>T (p.Glu459Val)
c.1365A>T
c.1745A>T (p.Glu582Val)
 gnomAD v4
1g.207472947A>CCA344534240CR2c.1377A>C (p.Glu459Asp)
c.1366A>C
c.1746A>C (p.Glu582Asp)
1g.207472947A>GCA423139026CR2c.1377A>G (p.Glu459=)
c.1366A>G
c.1746A>G (p.Glu582=)
1g.207472947A>TCA344534242CR2c.1377A>T (p.Glu459Asp)
c.1366A>T
c.1746A>T (p.Glu582Asp)
1g.207472948A=CA2483411863CR2c.1378A= (p.Arg460=)
c.1367A=
c.1747A= (p.Arg583=)
1g.207472948A>CCA423139029CR2c.1378A>C (p.Arg460=)
c.1367A>C
c.1747A>C (p.Arg583=)
 dbSNP gnomAD v3 gnomAD v4
1g.207472948A>GCA344534246CR2c.1378A>G (p.Arg460Gly)
c.1367A>G
c.1747A>G (p.Arg583Gly)
1g.207472948A>TCA344534244CR2c.1378A>T (p.Arg460Ter)
c.1367A>T
c.1747A>T (p.Arg583Ter)
1g.207472949G>ACA344534249CR2c.1379G>A (p.Arg460Lys)
c.1368G>A
c.1748G>A (p.Arg583Lys)
1g.207472949G>CCA344534252CR2c.1379G>C (p.Arg460Thr)
c.1368G>C
c.1748G>C (p.Arg583Thr)
 gnomAD v4
1g.207472949G>TCA344534250CR2c.1379G>T (p.Arg460Ile)
c.1368G>T
c.1748G>T (p.Arg583Ile)
1g.207472950A>CCA344534255CR2c.1380A>C (p.Arg460Ser)
c.1369A>C
c.1749A>C (p.Arg583Ser)
1g.207472950A>GCA423139035CR2c.1380A>G (p.Arg460=)
c.1369A>G
c.1749A>G (p.Arg583=)
1g.207472950A>TCA344534256CR2c.1380A>T (p.Arg460Ser)
c.1369A>T
c.1749A>T (p.Arg583Ser)
 gnomAD v4
1g.207472951G>ACA344534259CR2c.1381G>A (p.Gly461Ser)
c.1370G>A
c.1750G>A (p.Gly584Ser)
1g.207472951G>CCA344534261CR2c.1381G>C (p.Gly461Arg)
c.1370G>C
c.1750G>C (p.Gly584Arg)
1g.207472951G>TCA344534262CR2c.1381G>T (p.Gly461Cys)
c.1370G>T
c.1750G>T (p.Gly584Cys)
1g.207472952G>ACA344534264CR2c.1382G>A (p.Gly461Asp)
c.1371G>A
c.1751G>A (p.Gly584Asp)
1g.207472952G>CCA344534266CR2c.1382G>C (p.Gly461Ala)
c.1371G>C
c.1751G>C (p.Gly584Ala)
1g.207472952G>TCA344534268CR2c.1382G>T (p.Gly461Val)
c.1371G>T
c.1751G>T (p.Gly584Val)
1g.207472953C>ACA423139037CR2c.1383C>A (p.Gly461=)
c.1372C>A
c.1752C>A (p.Gly584=)
 gnomAD v4
1g.207472953C>GCA423139039CR2c.1383C>G (p.Gly461=)
c.1372C>G
c.1752C>G (p.Gly584=)
1g.207472953C>TCA423139040CR2c.1383C>T (p.Gly461=)
c.1372C>T
c.1752C>T (p.Gly584=)
1g.207472954A>CCA344534271CR2c.1384A>C (p.Thr462Pro)
c.1373A>C
c.1753A>C (p.Thr585Pro)
1g.207472954A>GCA344534272CR2c.1384A>G (p.Thr462Ala)
c.1373A>G
c.1753A>G (p.Thr585Ala)
 gnomAD v4
1g.207472954A>TCA344534274CR2c.1384A>T (p.Thr462Ser)
c.1373A>T
c.1753A>T (p.Thr585Ser)
1g.207472955C>ACA344534280CR2c.1385C>A (p.Thr462Asn)
c.1374C>A
c.1754C>A (p.Thr585Asn)
 gnomAD v4
1g.207472955C=CA2483411864CR2c.1385C= (p.Thr462=)
c.1374C=
c.1754C= (p.Thr585=)
1g.207472955C>GCA344534278CR2c.1385C>G (p.Thr462Ser)
c.1374C>G
c.1754C>G (p.Thr585Ser)
1g.207472955C>TCA344534276CR2c.1385C>T (p.Thr462Ile)
c.1374C>T
c.1754C>T (p.Thr585Ile)
 dbSNP
1g.207472956C>ACA423139041CR2c.1386C>A (p.Thr462=)
c.1375C>A
c.1755C>A (p.Thr585=)
1g.207472956C>GCA423139042CR2c.1386C>G (p.Thr462=)
c.1375C>G
c.1755C>G (p.Thr585=)
1g.207472956C>TCA423139043CR2c.1386C>T (p.Thr462=)
c.1375C>T
c.1755C>T (p.Thr585=)
 gnomAD v4
1g.207472957T>ACA344534282CR2c.1387T>A (p.Trp463Arg)
c.1376T>A
c.1756T>A (p.Trp586Arg)
1g.207472957T>CCA344534284CR2c.1387T>C (p.Trp463Arg)
c.1376T>C
c.1756T>C (p.Trp586Arg)
1g.207472957T>GCA344534286CR2c.1387T>G (p.Trp463Gly)
c.1376T>G
c.1756T>G (p.Trp586Gly)
1g.207472958G>ACA344534288CR2c.1388G>A (p.Trp463Ter)
c.1377G>A
c.1757G>A (p.Trp586Ter)
1g.207472958G>CCA344534290CR2c.1388G>C (p.Trp463Ser)
c.1377G>C
c.1757G>C (p.Trp586Ser)
1g.207472958G>TCA344534292CR2c.1388G>T (p.Trp463Leu)
c.1377G>T
c.1757G>T (p.Trp586Leu)
1g.207472959G>ACA344534294CR2c.1389G>A (p.Trp463Ter)
c.1378G>A
c.1758G>A (p.Trp586Ter)
1g.207472959G>CCA344534296CR2c.1389G>C (p.Trp463Cys)
c.1378G>C
c.1758G>C (p.Trp586Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.207472959G=CA2483411865CR2c.1389G= (p.Trp463=)
c.1378G=
c.1758G= (p.Trp586=)
1g.207472959G>TCA344534298CR2c.1389G>T (p.Trp463Cys)
c.1378G>T
c.1758G>T (p.Trp586Cys)
1g.207472960A>CCA344534301CR2c.1390A>C (p.Ser464Arg)
c.1379A>C
c.1759A>C (p.Ser587Arg)
1g.207472960A>GCA344534302CR2c.1390A>G (p.Ser464Gly)
c.1379A>G
c.1759A>G (p.Ser587Gly)
 gnomAD v4
1g.207472960A>TCA344534304CR2c.1390A>T (p.Ser464Cys)
c.1379A>T
c.1759A>T (p.Ser587Cys)
1g.207472961G>ACA344534310CR2c.1391G>A (p.Ser464Asn)
c.1380G>A
c.1760G>A (p.Ser587Asn)
 gnomAD v4
1g.207472961G>CCA344534306CR2c.1391G>C (p.Ser464Thr)
c.1380G>C
c.1760G>C (p.Ser587Thr)
1g.207472961G>TCA344534308CR2c.1391G>T (p.Ser464Ile)
c.1380G>T
c.1760G>T (p.Ser587Ile)
1g.207472962T>ACA344534311CR2c.1392T>A (p.Ser464Arg)
c.1381T>A
c.1761T>A (p.Ser587Arg)
 gnomAD v4
1g.207472962T>CCA423139048CR2c.1392T>C (p.Ser464=)
c.1381T>C
c.1761T>C (p.Ser587=)
1g.207472962T>GCA344534312CR2c.1392T>G (p.Ser464Arg)
c.1381T>G
c.1761T>G (p.Ser587Arg)
1g.207472963G>ACA344534315CR2c.1393G>A (p.Gly465Ser)
c.1382G>A
c.1762G>A (p.Gly588Ser)
1g.207472963G>CCA344534319CR2c.1393G>C (p.Gly465Arg)
c.1382G>C
c.1762G>C (p.Gly588Arg)
1g.207472963G>TCA344534321CR2c.1393G>T (p.Gly465Cys)
c.1382G>T
c.1762G>T (p.Gly588Cys)
1g.207472964G>ACA344534323CR2c.1394G>A (p.Gly465Asp)
c.1383G>A
c.1763G>A (p.Gly588Asp)
 gnomAD v4
1g.207472964G>CCA344534325CR2c.1394G>C (p.Gly465Ala)
c.1383G>C
c.1763G>C (p.Gly588Ala)
1g.207472964G>TCA344534327CR2c.1394G>T (p.Gly465Val)
c.1383G>T
c.1763G>T (p.Gly588Val)
 gnomAD v4
1g.207472965C>ACA423139049CR2c.1395C>A (p.Gly465=)
c.1384C>A
c.1764C>A (p.Gly588=)
1g.207472965C=CA2483411866CR2c.1395C= (p.Gly465=)
c.1384C=
c.1764C= (p.Gly588=)
1g.207472965C>GCA423139050CR2c.1395C>G (p.Gly465=)
c.1384C>G
c.1764C>G (p.Gly588=)
 gnomAD v4
1g.207472965C>TCA423139051CR2c.1395C>T (p.Gly465=)
c.1384C>T
c.1764C>T (p.Gly588=)
 dbSNP gnomAD v3 gnomAD v4
1g.207472966C>ACA344534334CR2c.1396C>A (p.Pro466Thr)
c.1385C>A
c.1765C>A (p.Pro589Thr)
 gnomAD v4
1g.207472966C>GCA344534332CR2c.1396C>G (p.Pro466Ala)
c.1385C>G
c.1765C>G (p.Pro589Ala)
 gnomAD v4
1g.207472966C>TCA344534329CR2c.1396C>T (p.Pro466Ser)
c.1385C>T
c.1765C>T (p.Pro589Ser)
 gnomAD v4
1g.207472967C>ACA344534336CR2c.1397C>A (p.Pro466His)
c.1386C>A
c.1766C>A (p.Pro589His)
1g.207472967C>GCA344534338CR2c.1397C>G (p.Pro466Arg)
c.1386C>G
c.1766C>G (p.Pro589Arg)
1g.207472967C>TCA344534340CR2c.1397C>T (p.Pro466Leu)
c.1386C>T
c.1766C>T (p.Pro589Leu)
 gnomAD v4
1g.207472968T>ACA423139053CR2c.1398T>A (p.Pro466=)
c.1387T>A
c.1767T>A (p.Pro589=)
1g.207472968T>CCA423139055CR2c.1398T>C (p.Pro466=)
c.1387T>C
c.1767T>C (p.Pro589=)
1g.207472968T>GCA423139054CR2c.1398T>G (p.Pro466=)
c.1387T>G
c.1767T>G (p.Pro589=)
1g.207472969G>ACA344534342CR2c.1399G>A (p.Ala467Thr)
c.1388G>A
c.1768G>A (p.Ala590Thr)
 gnomAD v4
1g.207472969G>CCA344534344CR2c.1399G>C (p.Ala467Pro)
c.1388G>C
c.1768G>C (p.Ala590Pro)
1g.207472969G>TCA344534345CR2c.1399G>T (p.Ala467Ser)
c.1388G>T
c.1768G>T (p.Ala590Ser)
1g.207472970C>ACA344534346CR2c.1400C>A (p.Ala467Asp)
c.1389C>A
c.1769C>A (p.Ala590Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.207472970C=CA2483411867CR2c.1400C= (p.Ala467=)
c.1389C=
c.1769C= (p.Ala590=)
1g.207472970C>GCA344534349CR2c.1400C>G (p.Ala467Gly)
c.1389C>G
c.1769C>G (p.Ala590Gly)
 gnomAD v4
1g.207472970C>TCA344534347CR2c.1400C>T (p.Ala467Val)
c.1389C>T
c.1769C>T (p.Ala590Val)
1g.207472971T>ACA423139057CR2c.1401T>A (p.Ala467=)
c.1390T>A
c.1770T>A (p.Ala590=)
 dbSNP gnomAD v2
1g.207472971T>CCA423139058CR2c.1401T>C (p.Ala467=)
c.1390T>C
c.1770T>C (p.Ala590=)
1g.207472971T>GCA423139059CR2c.1401T>G (p.Ala467=)
c.1390T>G
c.1770T>G (p.Ala590=)
1g.207472971T=CA2483411868CR2c.1401T= (p.Ala467=)
c.1390T=
c.1770T= (p.Ala590=)
1g.207472972C>ACA344534351CR2c.1402C>A (p.Pro468Thr)
c.1391C>A
c.1771C>A (p.Pro591Thr)
1g.207472972C>GCA344534353CR2c.1402C>G (p.Pro468Ala)
c.1391C>G
c.1771C>G (p.Pro591Ala)
1g.207472972C>TCA344534355CR2c.1402C>T (p.Pro468Ser)
c.1391C>T
c.1771C>T (p.Pro591Ser)
 COSMIC
1g.207472973C>ACA344534357CR2c.1403C>A (p.Pro468His)
c.1392C>A
c.1772C>A (p.Pro591His)
1g.207472973C>GCA344534359CR2c.1403C>G (p.Pro468Arg)
c.1392C>G
c.1772C>G (p.Pro591Arg)
1g.207472973C>TCA344534360CR2c.1403C>T (p.Pro468Leu)
c.1392C>T
c.1772C>T (p.Pro591Leu)
 COSMIC
1g.207472974C>ACA423139060CR2c.1404C>A (p.Pro468=)
c.1393C>A
c.1773C>A (p.Pro591=)
1g.207472974C=CA1147378974CR2c.1404C= (p.Pro468=)
c.1393C=
c.1773C= (p.Pro591=)
1g.207472974C>GCA423139062CR2c.1404C>G (p.Pro468=)
c.1393C>G
c.1773C>G (p.Pro591=)
 gnomAD v4
1g.207472974C>TCA1368806CR2c.1404C>T (p.Pro468=)
c.1393C>T
c.1773C>T (p.Pro591=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207472975C>ACA344534364CR2c.1405C>A (p.Leu469Met)
c.1394C>A
c.1774C>A (p.Leu592Met)
1g.207472975C>GCA344534365CR2c.1405C>G (p.Leu469Val)
c.1394C>G
c.1774C>G (p.Leu592Val)
1g.207472975C>TCA423139065CR2c.1405C>T (p.Leu469=)
c.1394C>T
c.1774C>T (p.Leu592=)
1g.207472976T>ACA344534367CR2c.1406T>A (p.Leu469Gln)
c.1395T>A
c.1775T>A (p.Leu592Gln)
 gnomAD v4
1g.207472976T>CCA344534369CR2c.1406T>C (p.Leu469Pro)
c.1395T>C
c.1775T>C (p.Leu592Pro)
1g.207472976T>GCA344534371CR2c.1406T>G (p.Leu469Arg)
c.1395T>G
c.1775T>G (p.Leu592Arg)
1g.207472977G>ACA1368807CR2c.1407G>A (p.Leu469=)
c.1396G>A
c.1776G>A (p.Leu592=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207472977G>CCA423139066CR2c.1407G>C (p.Leu469=)
c.1396G>C
c.1776G>C (p.Leu592=)
 gnomAD v4
1g.207472977G=CA1139849128CR2c.1407G= (p.Leu469=)
c.1396G=
c.1776G= (p.Leu592=)
1g.207472977G>TCA423139067CR2c.1407G>T (p.Leu469=)
c.1396G>T
c.1776G>T (p.Leu592=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.207472978T>ACA344534377CR2c.1408T>A (p.Cys470Ser)
c.1397T>A
c.1777T>A (p.Cys593Ser)
1g.207472978T>CCA344534374CR2c.1408T>C (p.Cys470Arg)
c.1397T>C
c.1777T>C (p.Cys593Arg)
 gnomAD v4
1g.207472978T>GCA344534376CR2c.1408T>G (p.Cys470Gly)
c.1397T>G
c.1777T>G (p.Cys593Gly)

Number of alleles fetched