Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.57661709G>ACA495791229ADGRG1c.1677G>A (p.Arg559=)
c.1695G>A (p.Arg565=)
c.1692G>A (p.Arg564=)
c.*1358G>A (n.*1358G>A)
c.*1340G>A (n.*1340G>A)
c.1185G>A (p.Arg395=)
c.1170G>A (p.Arg390=)
c.1152G>A (p.Arg384=)
c.1710G>A (p.Arg570=)
c.1674G>A (p.Arg558=)
c.1521G>A (p.Arg507=)
 ClinVar dbSNP
16g.57661709G>CCA495791230ADGRG1c.1677G>C (p.Arg559=)
c.1695G>C (p.Arg565=)
c.1692G>C (p.Arg564=)
c.*1358G>C (n.*1358G>C)
c.*1340G>C (n.*1340G>C)
c.1185G>C (p.Arg395=)
c.1170G>C (p.Arg390=)
c.1152G>C (p.Arg384=)
c.1710G>C (p.Arg570=)
c.1674G>C (p.Arg558=)
c.1521G>C (p.Arg507=)
16g.57661709G>TCA495791231ADGRG1c.1677G>T (p.Arg559=)
c.1695G>T (p.Arg565=)
c.1692G>T (p.Arg564=)
c.*1358G>T (n.*1358G>T)
c.*1340G>T (n.*1340G>T)
c.1185G>T (p.Arg395=)
c.1170G>T (p.Arg390=)
c.1152G>T (p.Arg384=)
c.1710G>T (p.Arg570=)
c.1674G>T (p.Arg558=)
c.1521G>T (p.Arg507=)
16g.57661710G>ACA396053115ADGRG1c.1678G>A (p.Asp560Asn)
c.1696G>A (p.Asp566Asn)
c.1693G>A (p.Asp565Asn)
c.*1359G>A (n.*1359G>A)
c.*1341G>A (n.*1341G>A)
c.1186G>A (p.Asp396Asn)
c.1171G>A (p.Asp391Asn)
c.1153G>A (p.Asp385Asn)
c.1711G>A (p.Asp571Asn)
c.1675G>A (p.Asp559Asn)
c.1522G>A (p.Asp508Asn)
 dbSNP gnomAD v3 gnomAD v4
16g.57661710G>CCA396053117ADGRG1c.1678G>C (p.Asp560His)
c.1696G>C (p.Asp566His)
c.1693G>C (p.Asp565His)
c.*1359G>C (n.*1359G>C)
c.*1341G>C (n.*1341G>C)
c.1186G>C (p.Asp396His)
c.1171G>C (p.Asp391His)
c.1153G>C (p.Asp385His)
c.1711G>C (p.Asp571His)
c.1675G>C (p.Asp559His)
c.1522G>C (p.Asp508His)
16g.57661710G=CA2224716707ADGRG1c.1678G= (p.Asp560=)
c.1696G= (p.Asp566=)
c.1693G= (p.Asp565=)
c.*1359G= (n.*1359G=)
c.*1341G= (n.*1341G=)
c.1186G= (p.Asp396=)
c.1171G= (p.Asp391=)
c.1153G= (p.Asp385=)
c.1711G= (p.Asp571=)
c.1675G= (p.Asp559=)
c.1522G= (p.Asp508=)
16g.57661710G>TCA396053118ADGRG1c.1678G>T (p.Asp560Tyr)
c.1696G>T (p.Asp566Tyr)
c.1693G>T (p.Asp565Tyr)
c.*1359G>T (n.*1359G>T)
c.*1341G>T (n.*1341G>T)
c.1186G>T (p.Asp396Tyr)
c.1171G>T (p.Asp391Tyr)
c.1153G>T (p.Asp385Tyr)
c.1711G>T (p.Asp571Tyr)
c.1675G>T (p.Asp559Tyr)
c.1522G>T (p.Asp508Tyr)
16g.57661711A>CCA396053125ADGRG1c.1679A>C (p.Asp560Ala)
c.1697A>C (p.Asp566Ala)
c.1694A>C (p.Asp565Ala)
c.*1360A>C (n.*1360A>C)
c.*1342A>C (n.*1342A>C)
c.1187A>C (p.Asp396Ala)
c.1172A>C (p.Asp391Ala)
c.1154A>C (p.Asp385Ala)
c.1712A>C (p.Asp571Ala)
c.1676A>C (p.Asp559Ala)
c.1523A>C (p.Asp508Ala)
16g.57661711A>GCA396053121ADGRG1c.1679A>G (p.Asp560Gly)
c.1697A>G (p.Asp566Gly)
c.1694A>G (p.Asp565Gly)
c.*1360A>G (n.*1360A>G)
c.*1342A>G (n.*1342A>G)
c.1187A>G (p.Asp396Gly)
c.1172A>G (p.Asp391Gly)
c.1154A>G (p.Asp385Gly)
c.1712A>G (p.Asp571Gly)
c.1676A>G (p.Asp559Gly)
c.1523A>G (p.Asp508Gly)
16g.57661711A>TCA396053124ADGRG1c.1679A>T (p.Asp560Val)
c.1697A>T (p.Asp566Val)
c.1694A>T (p.Asp565Val)
c.*1360A>T (n.*1360A>T)
c.*1342A>T (n.*1342A>T)
c.1187A>T (p.Asp396Val)
c.1172A>T (p.Asp391Val)
c.1154A>T (p.Asp385Val)
c.1712A>T (p.Asp571Val)
c.1676A>T (p.Asp559Val)
c.1523A>T (p.Asp508Val)
16g.57661712C>ACA396053127ADGRG1c.1680C>A (p.Asp560Glu)
c.1698C>A (p.Asp566Glu)
c.1695C>A (p.Asp565Glu)
c.*1361C>A (n.*1361C>A)
c.*1343C>A (n.*1343C>A)
c.1188C>A (p.Asp396Glu)
c.1173C>A (p.Asp391Glu)
c.1155C>A (p.Asp385Glu)
c.1713C>A (p.Asp571Glu)
c.1677C>A (p.Asp559Glu)
c.1524C>A (p.Asp508Glu)
 dbSNP gnomAD v4
16g.57661712C=CA2224716708ADGRG1c.1680C= (p.Asp560=)
c.1698C= (p.Asp566=)
c.1695C= (p.Asp565=)
c.*1361C= (n.*1361C=)
c.*1343C= (n.*1343C=)
c.1188C= (p.Asp396=)
c.1173C= (p.Asp391=)
c.1155C= (p.Asp385=)
c.1713C= (p.Asp571=)
c.1677C= (p.Asp559=)
c.1524C= (p.Asp508=)
16g.57661712C>GCA396053129ADGRG1c.1680C>G (p.Asp560Glu)
c.1698C>G (p.Asp566Glu)
c.1695C>G (p.Asp565Glu)
c.*1361C>G (n.*1361C>G)
c.*1343C>G (n.*1343C>G)
c.1188C>G (p.Asp396Glu)
c.1173C>G (p.Asp391Glu)
c.1155C>G (p.Asp385Glu)
c.1713C>G (p.Asp571Glu)
c.1677C>G (p.Asp559Glu)
c.1524C>G (p.Asp508Glu)
16g.57661712C>TCA495791232ADGRG1c.1680C>T (p.Asp560=)
c.1698C>T (p.Asp566=)
c.1695C>T (p.Asp565=)
c.*1361C>T (n.*1361C>T)
c.*1343C>T (n.*1343C>T)
c.1188C>T (p.Asp396=)
c.1173C>T (p.Asp391=)
c.1155C>T (p.Asp385=)
c.1713C>T (p.Asp571=)
c.1677C>T (p.Asp559=)
c.1524C>T (p.Asp508=)
16g.57661713T>ACA396053132ADGRG1c.1681T>A (p.Ser561Thr)
c.1699T>A (p.Ser567Thr)
c.1696T>A (p.Ser566Thr)
c.*1362T>A (n.*1362T>A)
c.*1344T>A (n.*1344T>A)
c.1189T>A (p.Ser397Thr)
c.1174T>A (p.Ser392Thr)
c.1156T>A (p.Ser386Thr)
c.1714T>A (p.Ser572Thr)
c.1678T>A (p.Ser560Thr)
c.1525T>A (p.Ser509Thr)
16g.57661713T>CCA396053133ADGRG1c.1681T>C (p.Ser561Pro)
c.1699T>C (p.Ser567Pro)
c.1696T>C (p.Ser566Pro)
c.*1362T>C (n.*1362T>C)
c.*1344T>C (n.*1344T>C)
c.1189T>C (p.Ser397Pro)
c.1174T>C (p.Ser392Pro)
c.1156T>C (p.Ser386Pro)
c.1714T>C (p.Ser572Pro)
c.1678T>C (p.Ser560Pro)
c.1525T>C (p.Ser509Pro)
16g.57661713T>GCA396053134ADGRG1c.1681T>G (p.Ser561Ala)
c.1699T>G (p.Ser567Ala)
c.1696T>G (p.Ser566Ala)
c.*1362T>G (n.*1362T>G)
c.*1344T>G (n.*1344T>G)
c.1189T>G (p.Ser397Ala)
c.1174T>G (p.Ser392Ala)
c.1156T>G (p.Ser386Ala)
c.1714T>G (p.Ser572Ala)
c.1678T>G (p.Ser560Ala)
c.1525T>G (p.Ser509Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.57661713T=CA2224716709ADGRG1c.1681T= (p.Ser561=)
c.1699T= (p.Ser567=)
c.1696T= (p.Ser566=)
c.*1362T= (n.*1362T=)
c.*1344T= (n.*1344T=)
c.1189T= (p.Ser397=)
c.1174T= (p.Ser392=)
c.1156T= (p.Ser386=)
c.1714T= (p.Ser572=)
c.1678T= (p.Ser560=)
c.1525T= (p.Ser509=)
16g.57661714C>ACA396053136ADGRG1c.1682C>A (p.Ser561Tyr)
c.1700C>A (p.Ser567Tyr)
c.1697C>A (p.Ser566Tyr)
c.*1363C>A (n.*1363C>A)
c.*1345C>A (n.*1345C>A)
c.1190C>A (p.Ser397Tyr)
c.1175C>A (p.Ser392Tyr)
c.1157C>A (p.Ser386Tyr)
c.1715C>A (p.Ser572Tyr)
c.1679C>A (p.Ser560Tyr)
c.1526C>A (p.Ser509Tyr)
16g.57661714C=CA2224716710ADGRG1c.1682C= (p.Ser561=)
c.1700C= (p.Ser567=)
c.1697C= (p.Ser566=)
c.*1363C= (n.*1363C=)
c.*1345C= (n.*1345C=)
c.1190C= (p.Ser397=)
c.1175C= (p.Ser392=)
c.1157C= (p.Ser386=)
c.1715C= (p.Ser572=)
c.1679C= (p.Ser560=)
c.1526C= (p.Ser509=)
16g.57661714C>GCA396053140ADGRG1c.1682C>G (p.Ser561Cys)
c.1700C>G (p.Ser567Cys)
c.1697C>G (p.Ser566Cys)
c.*1363C>G (n.*1363C>G)
c.*1345C>G (n.*1345C>G)
c.1190C>G (p.Ser397Cys)
c.1175C>G (p.Ser392Cys)
c.1157C>G (p.Ser386Cys)
c.1715C>G (p.Ser572Cys)
c.1679C>G (p.Ser560Cys)
c.1526C>G (p.Ser509Cys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.57661714C>TCA396053138ADGRG1c.1682C>T (p.Ser561Phe)
c.1700C>T (p.Ser567Phe)
c.1697C>T (p.Ser566Phe)
c.*1363C>T (n.*1363C>T)
c.*1345C>T (n.*1345C>T)
c.1190C>T (p.Ser397Phe)
c.1175C>T (p.Ser392Phe)
c.1157C>T (p.Ser386Phe)
c.1715C>T (p.Ser572Phe)
c.1679C>T (p.Ser560Phe)
c.1526C>T (p.Ser509Phe)
 gnomAD v4
16g.57661715C>ACA495791233ADGRG1c.1683C>A (p.Ser561=)
c.1701C>A (p.Ser567=)
c.1698C>A (p.Ser566=)
c.*1364C>A (n.*1364C>A)
c.*1346C>A (n.*1346C>A)
c.1191C>A (p.Ser397=)
c.1176C>A (p.Ser392=)
c.1158C>A (p.Ser386=)
c.1716C>A (p.Ser572=)
c.1680C>A (p.Ser560=)
c.1527C>A (p.Ser509=)
16g.57661715C=CA2224716711ADGRG1c.1683C= (p.Ser561=)
c.1701C= (p.Ser567=)
c.1698C= (p.Ser566=)
c.*1364C= (n.*1364C=)
c.*1346C= (n.*1346C=)
c.1191C= (p.Ser397=)
c.1176C= (p.Ser392=)
c.1158C= (p.Ser386=)
c.1716C= (p.Ser572=)
c.1680C= (p.Ser560=)
c.1527C= (p.Ser509=)
16g.57661715C>GCA495791234ADGRG1c.1683C>G (p.Ser561=)
c.1701C>G (p.Ser567=)
c.1698C>G (p.Ser566=)
c.*1364C>G (n.*1364C>G)
c.*1346C>G (n.*1346C>G)
c.1191C>G (p.Ser397=)
c.1176C>G (p.Ser392=)
c.1158C>G (p.Ser386=)
c.1716C>G (p.Ser572=)
c.1680C>G (p.Ser560=)
c.1527C>G (p.Ser509=)
16g.57661715C>TCA495791235ADGRG1c.1683C>T (p.Ser561=)
c.1701C>T (p.Ser567=)
c.1698C>T (p.Ser566=)
c.*1364C>T (n.*1364C>T)
c.*1346C>T (n.*1346C>T)
c.1191C>T (p.Ser397=)
c.1176C>T (p.Ser392=)
c.1158C>T (p.Ser386=)
c.1716C>T (p.Ser572=)
c.1680C>T (p.Ser560=)
c.1527C>T (p.Ser509=)
 dbSNP gnomAD v2
16g.57661716C>ACA396053142ADGRG1c.1684C>A (p.Leu562Met)
c.1702C>A (p.Leu568Met)
c.1699C>A (p.Leu567Met)
c.*1365C>A (n.*1365C>A)
c.*1347C>A (n.*1347C>A)
c.1192C>A (p.Leu398Met)
c.1177C>A (p.Leu393Met)
c.1159C>A (p.Leu387Met)
c.1717C>A (p.Leu573Met)
c.1681C>A (p.Leu561Met)
c.1528C>A (p.Leu510Met)
16g.57661716C>GCA396053144ADGRG1c.1684C>G (p.Leu562Val)
c.1702C>G (p.Leu568Val)
c.1699C>G (p.Leu567Val)
c.*1365C>G (n.*1365C>G)
c.*1347C>G (n.*1347C>G)
c.1192C>G (p.Leu398Val)
c.1177C>G (p.Leu393Val)
c.1159C>G (p.Leu387Val)
c.1717C>G (p.Leu573Val)
c.1681C>G (p.Leu561Val)
c.1528C>G (p.Leu510Val)
16g.57661716C>TCA495791236ADGRG1c.1684C>T (p.Leu562=)
c.1702C>T (p.Leu568=)
c.1699C>T (p.Leu567=)
c.*1365C>T (n.*1365C>T)
c.*1347C>T (n.*1347C>T)
c.1192C>T (p.Leu398=)
c.1177C>T (p.Leu393=)
c.1159C>T (p.Leu387=)
c.1717C>T (p.Leu573=)
c.1681C>T (p.Leu561=)
c.1528C>T (p.Leu510=)
16g.57661716_57661717delCA2633489610ADGRG1c.1684_1685del (p.Leu562GlyfsTer?)
c.1702_1703del (p.Leu568GlyfsTer?)
c.1699_1700del (p.Leu567GlyfsTer?)
c.*1365_*1366del (n.*1365_*1366del)
c.*1347_*1348del (n.*1347_*1348del)
c.1192_1193del (p.Leu398GlyfsTer?)
c.1177_1178del (p.Leu393GlyfsTer?)
c.1159_1160del (p.Leu387GlyfsTer?)
c.1717_1718del (p.Leu573GlyfsTer?)
c.1681_1682del (p.Leu561GlyfsTer?)
c.1528_1529del (p.Leu510GlyfsTer?)
 gnomAD v4
16g.57661717T>ACA396053146ADGRG1c.1685T>A (p.Leu562Gln)
c.1703T>A (p.Leu568Gln)
c.1700T>A (p.Leu567Gln)
c.*1366T>A (n.*1366T>A)
c.*1348T>A (n.*1348T>A)
c.1193T>A (p.Leu398Gln)
c.1178T>A (p.Leu393Gln)
c.1160T>A (p.Leu387Gln)
c.1718T>A (p.Leu573Gln)
c.1682T>A (p.Leu561Gln)
c.1529T>A (p.Leu510Gln)
16g.57661717T>CCA396053147ADGRG1c.1685T>C (p.Leu562Pro)
c.1703T>C (p.Leu568Pro)
c.1700T>C (p.Leu567Pro)
c.*1366T>C (n.*1366T>C)
c.*1348T>C (n.*1348T>C)
c.1193T>C (p.Leu398Pro)
c.1178T>C (p.Leu393Pro)
c.1160T>C (p.Leu387Pro)
c.1718T>C (p.Leu573Pro)
c.1682T>C (p.Leu561Pro)
c.1529T>C (p.Leu510Pro)
 dbSNP gnomAD v3 gnomAD v4
16g.57661717T>GCA396053148ADGRG1c.1685T>G (p.Leu562Arg)
c.1703T>G (p.Leu568Arg)
c.1700T>G (p.Leu567Arg)
c.*1366T>G (n.*1366T>G)
c.*1348T>G (n.*1348T>G)
c.1193T>G (p.Leu398Arg)
c.1178T>G (p.Leu393Arg)
c.1160T>G (p.Leu387Arg)
c.1718T>G (p.Leu573Arg)
c.1682T>G (p.Leu561Arg)
c.1529T>G (p.Leu510Arg)
16g.57661717T=CA2224716712ADGRG1c.1685T= (p.Leu562=)
c.1703T= (p.Leu568=)
c.1700T= (p.Leu567=)
c.*1366T= (n.*1366T=)
c.*1348T= (n.*1348T=)
c.1193T= (p.Leu398=)
c.1178T= (p.Leu393=)
c.1160T= (p.Leu387=)
c.1718T= (p.Leu573=)
c.1682T= (p.Leu561=)
c.1529T= (p.Leu510=)
16g.57661718G>ACA495791237ADGRG1c.1686G>A (p.Leu562=)
c.1704G>A (p.Leu568=)
c.1701G>A (p.Leu567=)
c.*1367G>A (n.*1367G>A)
c.*1349G>A (n.*1349G>A)
c.1194G>A (p.Leu398=)
c.1179G>A (p.Leu393=)
c.1161G>A (p.Leu387=)
c.1719G>A (p.Leu573=)
c.1683G>A (p.Leu561=)
c.1530G>A (p.Leu510=)
 ClinVar
16g.57661718G>CCA495791238ADGRG1c.1686G>C (p.Leu562=)
c.1704G>C (p.Leu568=)
c.1701G>C (p.Leu567=)
c.*1367G>C (n.*1367G>C)
c.*1349G>C (n.*1349G>C)
c.1194G>C (p.Leu398=)
c.1179G>C (p.Leu393=)
c.1161G>C (p.Leu387=)
c.1719G>C (p.Leu573=)
c.1683G>C (p.Leu561=)
c.1530G>C (p.Leu510=)
 gnomAD v4
16g.57661718G>TCA495791239ADGRG1c.1686G>T (p.Leu562=)
c.1704G>T (p.Leu568=)
c.1701G>T (p.Leu567=)
c.*1367G>T (n.*1367G>T)
c.*1349G>T (n.*1349G>T)
c.1194G>T (p.Leu398=)
c.1179G>T (p.Leu393=)
c.1161G>T (p.Leu387=)
c.1719G>T (p.Leu573=)
c.1683G>T (p.Leu561=)
c.1530G>T (p.Leu510=)
16g.57661719G>ACA396053150ADGRG1c.1687G>A (p.Val563Ile)
c.1705G>A (p.Val569Ile)
c.1702G>A (p.Val568Ile)
c.*1368G>A (n.*1368G>A)
c.*1350G>A (n.*1350G>A)
c.1195G>A (p.Val399Ile)
c.1180G>A (p.Val394Ile)
c.1162G>A (p.Val388Ile)
c.1720G>A (p.Val574Ile)
c.1684G>A (p.Val562Ile)
c.1531G>A (p.Val511Ile)
 gnomAD v4
16g.57661719G>CCA396053152ADGRG1c.1687G>C (p.Val563Leu)
c.1705G>C (p.Val569Leu)
c.1702G>C (p.Val568Leu)
c.*1368G>C (n.*1368G>C)
c.*1350G>C (n.*1350G>C)
c.1195G>C (p.Val399Leu)
c.1180G>C (p.Val394Leu)
c.1162G>C (p.Val388Leu)
c.1720G>C (p.Val574Leu)
c.1684G>C (p.Val562Leu)
c.1531G>C (p.Val511Leu)
16g.57661719G>TCA396053154ADGRG1c.1687G>T (p.Val563Phe)
c.1705G>T (p.Val569Phe)
c.1702G>T (p.Val568Phe)
c.*1368G>T (n.*1368G>T)
c.*1350G>T (n.*1350G>T)
c.1195G>T (p.Val399Phe)
c.1180G>T (p.Val394Phe)
c.1162G>T (p.Val388Phe)
c.1720G>T (p.Val574Phe)
c.1684G>T (p.Val562Phe)
c.1531G>T (p.Val511Phe)
16g.57661720T>ACA396053156ADGRG1c.1688T>A (p.Val563Asp)
c.1706T>A (p.Val569Asp)
c.1703T>A (p.Val568Asp)
c.*1369T>A (n.*1369T>A)
c.*1351T>A (n.*1351T>A)
c.1196T>A (p.Val399Asp)
c.1181T>A (p.Val394Asp)
c.1163T>A (p.Val388Asp)
c.1721T>A (p.Val574Asp)
c.1685T>A (p.Val562Asp)
c.1532T>A (p.Val511Asp)
16g.57661720T>CCA396053157ADGRG1c.1688T>C (p.Val563Ala)
c.1706T>C (p.Val569Ala)
c.1703T>C (p.Val568Ala)
c.*1369T>C (n.*1369T>C)
c.*1351T>C (n.*1351T>C)
c.1196T>C (p.Val399Ala)
c.1181T>C (p.Val394Ala)
c.1163T>C (p.Val388Ala)
c.1721T>C (p.Val574Ala)
c.1685T>C (p.Val562Ala)
c.1532T>C (p.Val511Ala)
16g.57661720T>GCA396053159ADGRG1c.1688T>G (p.Val563Gly)
c.1706T>G (p.Val569Gly)
c.1703T>G (p.Val568Gly)
c.*1369T>G (n.*1369T>G)
c.*1351T>G (n.*1351T>G)
c.1196T>G (p.Val399Gly)
c.1181T>G (p.Val394Gly)
c.1163T>G (p.Val388Gly)
c.1721T>G (p.Val574Gly)
c.1685T>G (p.Val562Gly)
c.1532T>G (p.Val511Gly)
16g.57661720_57661727delCA2633489638ADGRG1c.1688_1695del (p.Val563AspfsTer?)
c.1706_1713del (p.Val569AspfsTer?)
c.1703_1710del (p.Val568AspfsTer?)
c.*1369_*1376del (n.*1369_*1376del)
c.*1351_*1358del (n.*1351_*1358del)
c.1196_1203del (p.Val399AspfsTer?)
c.1181_1188del (p.Val394AspfsTer?)
c.1163_1170del (p.Val388AspfsTer?)
c.1721_1728del (p.Val574AspfsTer?)
c.1685_1692del (p.Val562AspfsTer?)
c.1532_1539del (p.Val511AspfsTer?)
 gnomAD v4
16g.57661721C>ACA495791240ADGRG1c.1689C>A (p.Val563=)
c.1707C>A (p.Val569=)
c.1704C>A (p.Val568=)
c.*1370C>A (n.*1370C>A)
c.*1352C>A (n.*1352C>A)
c.1197C>A (p.Val399=)
c.1182C>A (p.Val394=)
c.1164C>A (p.Val388=)
c.1722C>A (p.Val574=)
c.1686C>A (p.Val562=)
c.1533C>A (p.Val511=)
16g.57661721C>GCA495791241ADGRG1c.1689C>G (p.Val563=)
c.1707C>G (p.Val569=)
c.1704C>G (p.Val568=)
c.*1370C>G (n.*1370C>G)
c.*1352C>G (n.*1352C>G)
c.1197C>G (p.Val399=)
c.1182C>G (p.Val394=)
c.1164C>G (p.Val388=)
c.1722C>G (p.Val574=)
c.1686C>G (p.Val562=)
c.1533C>G (p.Val511=)
16g.57661721C>TCA495791242ADGRG1c.1689C>T (p.Val563=)
c.1707C>T (p.Val569=)
c.1704C>T (p.Val568=)
c.*1370C>T (n.*1370C>T)
c.*1352C>T (n.*1352C>T)
c.1197C>T (p.Val399=)
c.1182C>T (p.Val394=)
c.1164C>T (p.Val388=)
c.1722C>T (p.Val574=)
c.1686C>T (p.Val562=)
c.1533C>T (p.Val511=)
16g.57661722A=CA2224716713ADGRG1c.1690A= (p.Ser564=)
c.1708A= (p.Ser570=)
c.1705A= (p.Ser569=)
c.*1371A= (n.*1371A=)
c.*1353A= (n.*1353A=)
c.1198A= (p.Ser400=)
c.1183A= (p.Ser395=)
c.1165A= (p.Ser389=)
c.1723A= (p.Ser575=)
c.1687A= (p.Ser563=)
c.1534A= (p.Ser512=)
16g.57661722A>CCA396053164ADGRG1c.1690A>C (p.Ser564Arg)
c.1708A>C (p.Ser570Arg)
c.1705A>C (p.Ser569Arg)
c.*1371A>C (n.*1371A>C)
c.*1353A>C (n.*1353A>C)
c.1198A>C (p.Ser400Arg)
c.1183A>C (p.Ser395Arg)
c.1165A>C (p.Ser389Arg)
c.1723A>C (p.Ser575Arg)
c.1687A>C (p.Ser563Arg)
c.1534A>C (p.Ser512Arg)
16g.57661722A>GCA8078837ADGRG1c.1690A>G (p.Ser564Gly)
c.1708A>G (p.Ser570Gly)
c.1705A>G (p.Ser569Gly)
c.*1371A>G (n.*1371A>G)
c.*1353A>G (n.*1353A>G)
c.1198A>G (p.Ser400Gly)
c.1183A>G (p.Ser395Gly)
c.1165A>G (p.Ser389Gly)
c.1723A>G (p.Ser575Gly)
c.1687A>G (p.Ser563Gly)
c.1534A>G (p.Ser512Gly)
 dbSNP ExAC gnomAD v4
16g.57661722A>TCA396053162ADGRG1c.1690A>T (p.Ser564Cys)
c.1708A>T (p.Ser570Cys)
c.1705A>T (p.Ser569Cys)
c.*1371A>T (n.*1371A>T)
c.*1353A>T (n.*1353A>T)
c.1198A>T (p.Ser400Cys)
c.1183A>T (p.Ser395Cys)
c.1165A>T (p.Ser389Cys)
c.1723A>T (p.Ser575Cys)
c.1687A>T (p.Ser563Cys)
c.1534A>T (p.Ser512Cys)
16g.57661723G>ACA396053166ADGRG1c.1691G>A (p.Ser564Asn)
c.1709G>A (p.Ser570Asn)
c.1706G>A (p.Ser569Asn)
c.*1372G>A (n.*1372G>A)
c.*1354G>A (n.*1354G>A)
c.1199G>A (p.Ser400Asn)
c.1184G>A (p.Ser395Asn)
c.1166G>A (p.Ser389Asn)
c.1724G>A (p.Ser575Asn)
c.1688G>A (p.Ser563Asn)
c.1535G>A (p.Ser512Asn)
 gnomAD v4
16g.57661723G>CCA396053169ADGRG1c.1691G>C (p.Ser564Thr)
c.1709G>C (p.Ser570Thr)
c.1706G>C (p.Ser569Thr)
c.*1372G>C (n.*1372G>C)
c.*1354G>C (n.*1354G>C)
c.1199G>C (p.Ser400Thr)
c.1184G>C (p.Ser395Thr)
c.1166G>C (p.Ser389Thr)
c.1724G>C (p.Ser575Thr)
c.1688G>C (p.Ser563Thr)
c.1535G>C (p.Ser512Thr)
16g.57661723G>TCA396053171ADGRG1c.1691G>T (p.Ser564Ile)
c.1709G>T (p.Ser570Ile)
c.1706G>T (p.Ser569Ile)
c.*1372G>T (n.*1372G>T)
c.*1354G>T (n.*1354G>T)
c.1199G>T (p.Ser400Ile)
c.1184G>T (p.Ser395Ile)
c.1166G>T (p.Ser389Ile)
c.1724G>T (p.Ser575Ile)
c.1688G>T (p.Ser563Ile)
c.1535G>T (p.Ser512Ile)
 gnomAD v4
16g.57661724C>ACA396053173ADGRG1c.1692C>A (p.Ser564Arg)
c.1710C>A (p.Ser570Arg)
c.1707C>A (p.Ser569Arg)
c.*1373C>A (n.*1373C>A)
c.*1355C>A (n.*1355C>A)
c.1200C>A (p.Ser400Arg)
c.1185C>A (p.Ser395Arg)
c.1167C>A (p.Ser389Arg)
c.1725C>A (p.Ser575Arg)
c.1689C>A (p.Ser563Arg)
c.1536C>A (p.Ser512Arg)
16g.57661724C=CA2224716714ADGRG1c.1692C= (p.Ser564=)
c.1710C= (p.Ser570=)
c.1707C= (p.Ser569=)
c.*1373C= (n.*1373C=)
c.*1355C= (n.*1355C=)
c.1200C= (p.Ser400=)
c.1185C= (p.Ser395=)
c.1167C= (p.Ser389=)
c.1725C= (p.Ser575=)
c.1689C= (p.Ser563=)
c.1536C= (p.Ser512=)
16g.57661724C>GCA396053175ADGRG1c.1692C>G (p.Ser564Arg)
c.1710C>G (p.Ser570Arg)
c.1707C>G (p.Ser569Arg)
c.*1373C>G (n.*1373C>G)
c.*1355C>G (n.*1355C>G)
c.1200C>G (p.Ser400Arg)
c.1185C>G (p.Ser395Arg)
c.1167C>G (p.Ser389Arg)
c.1725C>G (p.Ser575Arg)
c.1689C>G (p.Ser563Arg)
c.1536C>G (p.Ser512Arg)
 dbSNP gnomAD v3 gnomAD v4
16g.57661724C>TCA8078838ADGRG1c.1692C>T (p.Ser564=)
c.1710C>T (p.Ser570=)
c.1707C>T (p.Ser569=)
c.*1373C>T (n.*1373C>T)
c.*1355C>T (n.*1355C>T)
c.1200C>T (p.Ser400=)
c.1185C>T (p.Ser395=)
c.1167C>T (p.Ser389=)
c.1725C>T (p.Ser575=)
c.1689C>T (p.Ser563=)
c.1536C>T (p.Ser512=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.57661725T>ACA396053178ADGRG1c.1693T>A (p.Tyr565Asn)
c.1711T>A (p.Tyr571Asn)
c.1708T>A (p.Tyr570Asn)
c.*1374T>A (n.*1374T>A)
c.*1356T>A (n.*1356T>A)
c.1201T>A (p.Tyr401Asn)
c.1186T>A (p.Tyr396Asn)
c.1168T>A (p.Tyr390Asn)
c.1726T>A (p.Tyr576Asn)
c.1690T>A (p.Tyr564Asn)
c.1537T>A (p.Tyr513Asn)
 gnomAD v4
16g.57661725T>CCA396053180ADGRG1c.1693T>C (p.Tyr565His)
c.1711T>C (p.Tyr571His)
c.1708T>C (p.Tyr570His)
c.*1374T>C (n.*1374T>C)
c.*1356T>C (n.*1356T>C)
c.1201T>C (p.Tyr401His)
c.1186T>C (p.Tyr396His)
c.1168T>C (p.Tyr390His)
c.1726T>C (p.Tyr576His)
c.1690T>C (p.Tyr564His)
c.1537T>C (p.Tyr513His)
16g.57661725T>GCA396053182ADGRG1c.1693T>G (p.Tyr565Asp)
c.1711T>G (p.Tyr571Asp)
c.1708T>G (p.Tyr570Asp)
c.*1374T>G (n.*1374T>G)
c.*1356T>G (n.*1356T>G)
c.1201T>G (p.Tyr401Asp)
c.1186T>G (p.Tyr396Asp)
c.1168T>G (p.Tyr390Asp)
c.1726T>G (p.Tyr576Asp)
c.1690T>G (p.Tyr564Asp)
c.1537T>G (p.Tyr513Asp)
16g.57661726A=CA2224716715ADGRG1c.1694A= (p.Tyr565=)
c.1712A= (p.Tyr571=)
c.1709A= (p.Tyr570=)
c.*1375A= (n.*1375A=)
c.*1357A= (n.*1357A=)
c.1202A= (p.Tyr401=)
c.1187A= (p.Tyr396=)
c.1169A= (p.Tyr390=)
c.1727A= (p.Tyr576=)
c.1691A= (p.Tyr564=)
c.1538A= (p.Tyr513=)
16g.57661726A>CCA396053184ADGRG1c.1694A>C (p.Tyr565Ser)
c.1712A>C (p.Tyr571Ser)
c.1709A>C (p.Tyr570Ser)
c.*1375A>C (n.*1375A>C)
c.*1357A>C (n.*1357A>C)
c.1202A>C (p.Tyr401Ser)
c.1187A>C (p.Tyr396Ser)
c.1169A>C (p.Tyr390Ser)
c.1727A>C (p.Tyr576Ser)
c.1691A>C (p.Tyr564Ser)
c.1538A>C (p.Tyr513Ser)
16g.57661726A>GCA396053186ADGRG1c.1694A>G (p.Tyr565Cys)
c.1712A>G (p.Tyr571Cys)
c.1709A>G (p.Tyr570Cys)
c.*1375A>G (n.*1375A>G)
c.*1357A>G (n.*1357A>G)
c.1202A>G (p.Tyr401Cys)
c.1187A>G (p.Tyr396Cys)
c.1169A>G (p.Tyr390Cys)
c.1727A>G (p.Tyr576Cys)
c.1691A>G (p.Tyr564Cys)
c.1538A>G (p.Tyr513Cys)
 dbSNP
16g.57661726A>TCA396053188ADGRG1c.1694A>T (p.Tyr565Phe)
c.1712A>T (p.Tyr571Phe)
c.1709A>T (p.Tyr570Phe)
c.*1375A>T (n.*1375A>T)
c.*1357A>T (n.*1357A>T)
c.1202A>T (p.Tyr401Phe)
c.1187A>T (p.Tyr396Phe)
c.1169A>T (p.Tyr390Phe)
c.1727A>T (p.Tyr576Phe)
c.1691A>T (p.Tyr564Phe)
c.1538A>T (p.Tyr513Phe)
16g.57661727C>ACA396053190ADGRG1c.1695C>A (p.Tyr565Ter)
c.1713C>A (p.Tyr571Ter)
c.1710C>A (p.Tyr570Ter)
c.*1376C>A (n.*1376C>A)
c.*1358C>A (n.*1358C>A)
c.1203C>A (p.Tyr401Ter)
c.1188C>A (p.Tyr396Ter)
c.1170C>A (p.Tyr390Ter)
c.1728C>A (p.Tyr576Ter)
c.1692C>A (p.Tyr564Ter)
c.1539C>A (p.Tyr513Ter)
16g.57661727C>GCA396053192ADGRG1c.1695C>G (p.Tyr565Ter)
c.1713C>G (p.Tyr571Ter)
c.1710C>G (p.Tyr570Ter)
c.*1376C>G (n.*1376C>G)
c.*1358C>G (n.*1358C>G)
c.1203C>G (p.Tyr401Ter)
c.1188C>G (p.Tyr396Ter)
c.1170C>G (p.Tyr390Ter)
c.1728C>G (p.Tyr576Ter)
c.1692C>G (p.Tyr564Ter)
c.1539C>G (p.Tyr513Ter)
16g.57661727C>TCA495791244ADGRG1c.1695C>T (p.Tyr565=)
c.1713C>T (p.Tyr571=)
c.1710C>T (p.Tyr570=)
c.*1376C>T (n.*1376C>T)
c.*1358C>T (n.*1358C>T)
c.1203C>T (p.Tyr401=)
c.1188C>T (p.Tyr396=)
c.1170C>T (p.Tyr390=)
c.1728C>T (p.Tyr576=)
c.1692C>T (p.Tyr564=)
c.1539C>T (p.Tyr513=)
16g.57661728A>CCA396053198ADGRG1c.1696A>C (p.Ile566Leu)
c.1714A>C (p.Ile572Leu)
c.1711A>C (p.Ile571Leu)
c.*1377A>C (n.*1377A>C)
c.*1359A>C (n.*1359A>C)
c.1204A>C (p.Ile402Leu)
c.1189A>C (p.Ile397Leu)
c.1171A>C (p.Ile391Leu)
c.1729A>C (p.Ile577Leu)
c.1693A>C (p.Ile565Leu)
c.1540A>C (p.Ile514Leu)
16g.57661728A>GCA396053196ADGRG1c.1696A>G (p.Ile566Val)
c.1714A>G (p.Ile572Val)
c.1711A>G (p.Ile571Val)
c.*1377A>G (n.*1377A>G)
c.*1359A>G (n.*1359A>G)
c.1204A>G (p.Ile402Val)
c.1189A>G (p.Ile397Val)
c.1171A>G (p.Ile391Val)
c.1729A>G (p.Ile577Val)
c.1693A>G (p.Ile565Val)
c.1540A>G (p.Ile514Val)
 gnomAD v4
16g.57661728A>TCA396053195ADGRG1c.1696A>T (p.Ile566Phe)
c.1714A>T (p.Ile572Phe)
c.1711A>T (p.Ile571Phe)
c.*1377A>T (n.*1377A>T)
c.*1359A>T (n.*1359A>T)
c.1204A>T (p.Ile402Phe)
c.1189A>T (p.Ile397Phe)
c.1171A>T (p.Ile391Phe)
c.1729A>T (p.Ile577Phe)
c.1693A>T (p.Ile565Phe)
c.1540A>T (p.Ile514Phe)
 gnomAD v4
16g.57661729T>ACA8078839ADGRG1c.1697T>A (p.Ile566Asn)
c.1715T>A (p.Ile572Asn)
c.1712T>A (p.Ile571Asn)
c.*1378T>A (n.*1378T>A)
c.*1360T>A (n.*1360T>A)
c.1205T>A (p.Ile402Asn)
c.1190T>A (p.Ile397Asn)
c.1172T>A (p.Ile391Asn)
c.1730T>A (p.Ile577Asn)
c.1694T>A (p.Ile565Asn)
c.1541T>A (p.Ile514Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.57661729T>CCA396053199ADGRG1c.1697T>C (p.Ile566Thr)
c.1715T>C (p.Ile572Thr)
c.1712T>C (p.Ile571Thr)
c.*1378T>C (n.*1378T>C)
c.*1360T>C (n.*1360T>C)
c.1205T>C (p.Ile402Thr)
c.1190T>C (p.Ile397Thr)
c.1172T>C (p.Ile391Thr)
c.1730T>C (p.Ile577Thr)
c.1694T>C (p.Ile565Thr)
c.1541T>C (p.Ile514Thr)
16g.57661729T>GCA396053201ADGRG1c.1697T>G (p.Ile566Ser)
c.1715T>G (p.Ile572Ser)
c.1712T>G (p.Ile571Ser)
c.*1378T>G (n.*1378T>G)
c.*1360T>G (n.*1360T>G)
c.1205T>G (p.Ile402Ser)
c.1190T>G (p.Ile397Ser)
c.1172T>G (p.Ile391Ser)
c.1730T>G (p.Ile577Ser)
c.1694T>G (p.Ile565Ser)
c.1541T>G (p.Ile514Ser)
16g.57661729T=CA2224716716ADGRG1c.1697T= (p.Ile566=)
c.1715T= (p.Ile572=)
c.1712T= (p.Ile571=)
c.*1378T= (n.*1378T=)
c.*1360T= (n.*1360T=)
c.1205T= (p.Ile402=)
c.1190T= (p.Ile397=)
c.1172T= (p.Ile391=)
c.1730T= (p.Ile577=)
c.1694T= (p.Ile565=)
c.1541T= (p.Ile514=)
16g.57661730C>ACA495791245ADGRG1c.1698C>A (p.Ile566=)
c.1716C>A (p.Ile572=)
c.1713C>A (p.Ile571=)
c.*1379C>A (n.*1379C>A)
c.*1361C>A (n.*1361C>A)
c.1206C>A (p.Ile402=)
c.1191C>A (p.Ile397=)
c.1173C>A (p.Ile391=)
c.1731C>A (p.Ile577=)
c.1695C>A (p.Ile565=)
c.1542C>A (p.Ile514=)
16g.57661730C=CA2224716717ADGRG1c.1698C= (p.Ile566=)
c.1716C= (p.Ile572=)
c.1713C= (p.Ile571=)
c.*1379C= (n.*1379C=)
c.*1361C= (n.*1361C=)
c.1206C= (p.Ile402=)
c.1191C= (p.Ile397=)
c.1173C= (p.Ile391=)
c.1731C= (p.Ile577=)
c.1695C= (p.Ile565=)
c.1542C= (p.Ile514=)
16g.57661730C>GCA396053202ADGRG1c.1698C>G (p.Ile566Met)
c.1716C>G (p.Ile572Met)
c.1713C>G (p.Ile571Met)
c.*1379C>G (n.*1379C>G)
c.*1361C>G (n.*1361C>G)
c.1206C>G (p.Ile402Met)
c.1191C>G (p.Ile397Met)
c.1173C>G (p.Ile391Met)
c.1731C>G (p.Ile577Met)
c.1695C>G (p.Ile565Met)
c.1542C>G (p.Ile514Met)
16g.57661730C>TCA8078840ADGRG1c.1698C>T (p.Ile566=)
c.1716C>T (p.Ile572=)
c.1713C>T (p.Ile571=)
c.*1379C>T (n.*1379C>T)
c.*1361C>T (n.*1361C>T)
c.1206C>T (p.Ile402=)
c.1191C>T (p.Ile397=)
c.1173C>T (p.Ile391=)
c.1731C>T (p.Ile577=)
c.1695C>T (p.Ile565=)
c.1542C>T (p.Ile514=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.57661731A>CCA396053205ADGRG1c.1699A>C (p.Thr567Pro)
c.1717A>C (p.Thr573Pro)
c.1714A>C (p.Thr572Pro)
c.*1380A>C (n.*1380A>C)
c.*1362A>C (n.*1362A>C)
c.1207A>C (p.Thr403Pro)
c.1192A>C (p.Thr398Pro)
c.1174A>C (p.Thr392Pro)
c.1732A>C (p.Thr578Pro)
c.1696A>C (p.Thr566Pro)
c.1543A>C (p.Thr515Pro)
16g.57661731A>GCA396053207ADGRG1c.1699A>G (p.Thr567Ala)
c.1717A>G (p.Thr573Ala)
c.1714A>G (p.Thr572Ala)
c.*1380A>G (n.*1380A>G)
c.*1362A>G (n.*1362A>G)
c.1207A>G (p.Thr403Ala)
c.1192A>G (p.Thr398Ala)
c.1174A>G (p.Thr392Ala)
c.1732A>G (p.Thr578Ala)
c.1696A>G (p.Thr566Ala)
c.1543A>G (p.Thr515Ala)
16g.57661731A>TCA396053208ADGRG1c.1699A>T (p.Thr567Ser)
c.1717A>T (p.Thr573Ser)
c.1714A>T (p.Thr572Ser)
c.*1380A>T (n.*1380A>T)
c.*1362A>T (n.*1362A>T)
c.1207A>T (p.Thr403Ser)
c.1192A>T (p.Thr398Ser)
c.1174A>T (p.Thr392Ser)
c.1732A>T (p.Thr578Ser)
c.1696A>T (p.Thr566Ser)
c.1543A>T (p.Thr515Ser)
16g.57661732C>ACA396053210ADGRG1c.1700C>A (p.Thr567Asn)
c.1718C>A (p.Thr573Asn)
c.1715C>A (p.Thr572Asn)
c.*1381C>A (n.*1381C>A)
c.*1363C>A (n.*1363C>A)
c.1208C>A (p.Thr403Asn)
c.1193C>A (p.Thr398Asn)
c.1175C>A (p.Thr392Asn)
c.1733C>A (p.Thr578Asn)
c.1697C>A (p.Thr566Asn)
c.1544C>A (p.Thr515Asn)
16g.57661732C>GCA396053212ADGRG1c.1700C>G (p.Thr567Ser)
c.1718C>G (p.Thr573Ser)
c.1715C>G (p.Thr572Ser)
c.*1381C>G (n.*1381C>G)
c.*1363C>G (n.*1363C>G)
c.1208C>G (p.Thr403Ser)
c.1193C>G (p.Thr398Ser)
c.1175C>G (p.Thr392Ser)
c.1733C>G (p.Thr578Ser)
c.1697C>G (p.Thr566Ser)
c.1544C>G (p.Thr515Ser)
16g.57661732C>TCA396053214ADGRG1c.1700C>T (p.Thr567Ile)
c.1718C>T (p.Thr573Ile)
c.1715C>T (p.Thr572Ile)
c.*1381C>T (n.*1381C>T)
c.*1363C>T (n.*1363C>T)
c.1208C>T (p.Thr403Ile)
c.1193C>T (p.Thr398Ile)
c.1175C>T (p.Thr392Ile)
c.1733C>T (p.Thr578Ile)
c.1697C>T (p.Thr566Ile)
c.1544C>T (p.Thr515Ile)
16g.57661733C>ACA495791248ADGRG1c.1701C>A (p.Thr567=)
c.1719C>A (p.Thr573=)
c.1716C>A (p.Thr572=)
c.*1382C>A (n.*1382C>A)
c.*1364C>A (n.*1364C>A)
c.1209C>A (p.Thr403=)
c.1194C>A (p.Thr398=)
c.1176C>A (p.Thr392=)
c.1734C>A (p.Thr578=)
c.1698C>A (p.Thr566=)
c.1545C>A (p.Thr515=)
16g.57661733C>GCA495791247ADGRG1c.1701C>G (p.Thr567=)
c.1719C>G (p.Thr573=)
c.1716C>G (p.Thr572=)
c.*1382C>G (n.*1382C>G)
c.*1364C>G (n.*1364C>G)
c.1209C>G (p.Thr403=)
c.1194C>G (p.Thr398=)
c.1176C>G (p.Thr392=)
c.1734C>G (p.Thr578=)
c.1698C>G (p.Thr566=)
c.1545C>G (p.Thr515=)
16g.57661733C>TCA495791246ADGRG1c.1701C>T (p.Thr567=)
c.1719C>T (p.Thr573=)
c.1716C>T (p.Thr572=)
c.*1382C>T (n.*1382C>T)
c.*1364C>T (n.*1364C>T)
c.1209C>T (p.Thr403=)
c.1194C>T (p.Thr398=)
c.1176C>T (p.Thr392=)
c.1734C>T (p.Thr578=)
c.1698C>T (p.Thr566=)
c.1545C>T (p.Thr515=)
 gnomAD v4
16g.57661734A>CCA396053220ADGRG1c.1702A>C (p.Asn568His)
c.1720A>C (p.Asn574His)
c.1717A>C (p.Asn573His)
c.*1383A>C (n.*1383A>C)
c.*1365A>C (n.*1365A>C)
c.1210A>C (p.Asn404His)
c.1195A>C (p.Asn399His)
c.1177A>C (p.Asn393His)
c.1735A>C (p.Asn579His)
c.1699A>C (p.Asn567His)
c.1546A>C (p.Asn516His)
16g.57661734A>GCA396053222ADGRG1c.1702A>G (p.Asn568Asp)
c.1720A>G (p.Asn574Asp)
c.1717A>G (p.Asn573Asp)
c.*1383A>G (n.*1383A>G)
c.*1365A>G (n.*1365A>G)
c.1210A>G (p.Asn404Asp)
c.1195A>G (p.Asn399Asp)
c.1177A>G (p.Asn393Asp)
c.1735A>G (p.Asn579Asp)
c.1699A>G (p.Asn567Asp)
c.1546A>G (p.Asn516Asp)
16g.57661734A>TCA396053224ADGRG1c.1702A>T (p.Asn568Tyr)
c.1720A>T (p.Asn574Tyr)
c.1717A>T (p.Asn573Tyr)
c.*1383A>T (n.*1383A>T)
c.*1365A>T (n.*1365A>T)
c.1210A>T (p.Asn404Tyr)
c.1195A>T (p.Asn399Tyr)
c.1177A>T (p.Asn393Tyr)
c.1735A>T (p.Asn579Tyr)
c.1699A>T (p.Asn567Tyr)
c.1546A>T (p.Asn516Tyr)
16g.57661735A=CA2224716718ADGRG1c.1703A= (p.Asn568=)
c.1721A= (p.Asn574=)
c.1718A= (p.Asn573=)
c.*1384A= (n.*1384A=)
c.*1366A= (n.*1366A=)
c.1211A= (p.Asn404=)
c.1196A= (p.Asn399=)
c.1178A= (p.Asn393=)
c.1736A= (p.Asn579=)
c.1700A= (p.Asn567=)
c.1547A= (p.Asn516=)
16g.57661735A>CCA396053229ADGRG1c.1703A>C (p.Asn568Thr)
c.1721A>C (p.Asn574Thr)
c.1718A>C (p.Asn573Thr)
c.*1384A>C (n.*1384A>C)
c.*1366A>C (n.*1366A>C)
c.1211A>C (p.Asn404Thr)
c.1196A>C (p.Asn399Thr)
c.1178A>C (p.Asn393Thr)
c.1736A>C (p.Asn579Thr)
c.1700A>C (p.Asn567Thr)
c.1547A>C (p.Asn516Thr)
 gnomAD v4
16g.57661735A>GCA8078841ADGRG1c.1703A>G (p.Asn568Ser)
c.1721A>G (p.Asn574Ser)
c.1718A>G (p.Asn573Ser)
c.*1384A>G (n.*1384A>G)
c.*1366A>G (n.*1366A>G)
c.1211A>G (p.Asn404Ser)
c.1196A>G (p.Asn399Ser)
c.1178A>G (p.Asn393Ser)
c.1736A>G (p.Asn579Ser)
c.1700A>G (p.Asn567Ser)
c.1547A>G (p.Asn516Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.57661735A>TCA396053227ADGRG1c.1703A>T (p.Asn568Ile)
c.1721A>T (p.Asn574Ile)
c.1718A>T (p.Asn573Ile)
c.*1384A>T (n.*1384A>T)
c.*1366A>T (n.*1366A>T)
c.1211A>T (p.Asn404Ile)
c.1196A>T (p.Asn399Ile)
c.1178A>T (p.Asn393Ile)
c.1736A>T (p.Asn579Ile)
c.1700A>T (p.Asn567Ile)
c.1547A>T (p.Asn516Ile)
16g.57661736C>ACA396053233ADGRG1c.1704C>A (p.Asn568Lys)
c.1722C>A (p.Asn574Lys)
c.1719C>A (p.Asn573Lys)
c.*1385C>A (n.*1385C>A)
c.*1367C>A (n.*1367C>A)
c.1212C>A (p.Asn404Lys)
c.1197C>A (p.Asn399Lys)
c.1179C>A (p.Asn393Lys)
c.1737C>A (p.Asn579Lys)
c.1701C>A (p.Asn567Lys)
c.1548C>A (p.Asn516Lys)
16g.57661736C>GCA396053234ADGRG1c.1704C>G (p.Asn568Lys)
c.1722C>G (p.Asn574Lys)
c.1719C>G (p.Asn573Lys)
c.*1385C>G (n.*1385C>G)
c.*1367C>G (n.*1367C>G)
c.1212C>G (p.Asn404Lys)
c.1197C>G (p.Asn399Lys)
c.1179C>G (p.Asn393Lys)
c.1737C>G (p.Asn579Lys)
c.1701C>G (p.Asn567Lys)
c.1548C>G (p.Asn516Lys)
16g.57661736C>TCA495791249ADGRG1c.1704C>T (p.Asn568=)
c.1722C>T (p.Asn574=)
c.1719C>T (p.Asn573=)
c.*1385C>T (n.*1385C>T)
c.*1367C>T (n.*1367C>T)
c.1212C>T (p.Asn404=)
c.1197C>T (p.Asn399=)
c.1179C>T (p.Asn393=)
c.1737C>T (p.Asn579=)
c.1701C>T (p.Asn567=)
c.1548C>T (p.Asn516=)
16g.57661737delCA2633489986ADGRG1c.1705del (p.Leu569TrpfsTer15)
c.1723del (p.Leu575TrpfsTer15)
c.1720del (p.Leu574TrpfsTer15)
c.*1386del (n.*1386del)
c.*1368del (n.*1368del)
c.1213del (p.Leu405TrpfsTer15)
c.1198del (p.Leu400TrpfsTer15)
c.1180del (p.Leu394TrpfsTer15)
c.1738del (p.Leu580TrpfsTer15)
c.1702del (p.Leu568TrpfsTer15)
c.1549del (p.Leu517TrpfsTer15)
 gnomAD v4
16g.57661737C>ACA396053237ADGRG1c.1705C>A (p.Leu569Met)
c.1723C>A (p.Leu575Met)
c.1720C>A (p.Leu574Met)
c.*1386C>A (n.*1386C>A)
c.*1368C>A (n.*1368C>A)
c.1213C>A (p.Leu405Met)
c.1198C>A (p.Leu400Met)
c.1180C>A (p.Leu394Met)
c.1738C>A (p.Leu580Met)
c.1702C>A (p.Leu568Met)
c.1549C>A (p.Leu517Met)
16g.57661737C=CA2224716719ADGRG1c.1705C= (p.Leu569=)
c.1723C= (p.Leu575=)
c.1720C= (p.Leu574=)
c.*1386C= (n.*1386C=)
c.*1368C= (n.*1368C=)
c.1213C= (p.Leu405=)
c.1198C= (p.Leu400=)
c.1180C= (p.Leu394=)
c.1738C= (p.Leu580=)
c.1702C= (p.Leu568=)
c.1549C= (p.Leu517=)
16g.57661737C>GCA396053239ADGRG1c.1705C>G (p.Leu569Val)
c.1723C>G (p.Leu575Val)
c.1720C>G (p.Leu574Val)
c.*1386C>G (n.*1386C>G)
c.*1368C>G (n.*1368C>G)
c.1213C>G (p.Leu405Val)
c.1198C>G (p.Leu400Val)
c.1180C>G (p.Leu394Val)
c.1738C>G (p.Leu580Val)
c.1702C>G (p.Leu568Val)
c.1549C>G (p.Leu517Val)
 gnomAD v4
16g.57661737C>TCA495791250ADGRG1c.1705C>T (p.Leu569=)
c.1723C>T (p.Leu575=)
c.1720C>T (p.Leu574=)
c.*1386C>T (n.*1386C>T)
c.*1368C>T (n.*1368C>T)
c.1213C>T (p.Leu405=)
c.1198C>T (p.Leu400=)
c.1180C>T (p.Leu394=)
c.1738C>T (p.Leu580=)
c.1702C>T (p.Leu568=)
c.1549C>T (p.Leu517=)
 ClinVar dbSNP gnomAD v4
16g.57661738T>ACA396053242ADGRG1c.1706T>A (p.Leu569Gln)
c.1724T>A (p.Leu575Gln)
c.1721T>A (p.Leu574Gln)
c.*1387T>A (n.*1387T>A)
c.*1369T>A (n.*1369T>A)
c.1214T>A (p.Leu405Gln)
c.1199T>A (p.Leu400Gln)
c.1181T>A (p.Leu394Gln)
c.1739T>A (p.Leu580Gln)
c.1703T>A (p.Leu568Gln)
c.1550T>A (p.Leu517Gln)
16g.57661738T>CCA396053244ADGRG1c.1706T>C (p.Leu569Pro)
c.1724T>C (p.Leu575Pro)
c.1721T>C (p.Leu574Pro)
c.*1387T>C (n.*1387T>C)
c.*1369T>C (n.*1369T>C)
c.1214T>C (p.Leu405Pro)
c.1199T>C (p.Leu400Pro)
c.1181T>C (p.Leu394Pro)
c.1739T>C (p.Leu580Pro)
c.1703T>C (p.Leu568Pro)
c.1550T>C (p.Leu517Pro)
16g.57661738T>GCA396053246ADGRG1c.1706T>G (p.Leu569Arg)
c.1724T>G (p.Leu575Arg)
c.1721T>G (p.Leu574Arg)
c.*1387T>G (n.*1387T>G)
c.*1369T>G (n.*1369T>G)
c.1214T>G (p.Leu405Arg)
c.1199T>G (p.Leu400Arg)
c.1181T>G (p.Leu394Arg)
c.1739T>G (p.Leu580Arg)
c.1703T>G (p.Leu568Arg)
c.1550T>G (p.Leu517Arg)
 dbSNP gnomAD v2 gnomAD v4
16g.57661738T=CA2224716720ADGRG1c.1706T= (p.Leu569=)
c.1724T= (p.Leu575=)
c.1721T= (p.Leu574=)
c.*1387T= (n.*1387T=)
c.*1369T= (n.*1369T=)
c.1214T= (p.Leu405=)
c.1199T= (p.Leu400=)
c.1181T= (p.Leu394=)
c.1739T= (p.Leu580=)
c.1703T= (p.Leu568=)
c.1550T= (p.Leu517=)
16g.57661739G>ACA495791251ADGRG1c.1707G>A (p.Leu569=)
c.1725G>A (p.Leu575=)
c.1722G>A (p.Leu574=)
c.*1388G>A (n.*1388G>A)
c.*1370G>A (n.*1370G>A)
c.1215G>A (p.Leu405=)
c.1200G>A (p.Leu400=)
c.1182G>A (p.Leu394=)
c.1740G>A (p.Leu580=)
c.1704G>A (p.Leu568=)
c.1551G>A (p.Leu517=)
16g.57661739G>CCA495791253ADGRG1c.1707G>C (p.Leu569=)
c.1725G>C (p.Leu575=)
c.1722G>C (p.Leu574=)
c.*1388G>C (n.*1388G>C)
c.*1370G>C (n.*1370G>C)
c.1215G>C (p.Leu405=)
c.1200G>C (p.Leu400=)
c.1182G>C (p.Leu394=)
c.1740G>C (p.Leu580=)
c.1704G>C (p.Leu568=)
c.1551G>C (p.Leu517=)
16g.57661739G>TCA495791252ADGRG1c.1707G>T (p.Leu569=)
c.1725G>T (p.Leu575=)
c.1722G>T (p.Leu574=)
c.*1388G>T (n.*1388G>T)
c.*1370G>T (n.*1370G>T)
c.1215G>T (p.Leu405=)
c.1200G>T (p.Leu400=)
c.1182G>T (p.Leu394=)
c.1740G>T (p.Leu580=)
c.1704G>T (p.Leu568=)
c.1551G>T (p.Leu517=)
16g.57661740G>ACA396053248ADGRG1c.1708G>A (p.Gly570Ser)
c.1726G>A (p.Gly576Ser)
c.1723G>A (p.Gly575Ser)
c.*1389G>A (n.*1389G>A)
c.*1371G>A (n.*1371G>A)
c.1216G>A (p.Gly406Ser)
c.1201G>A (p.Gly401Ser)
c.1183G>A (p.Gly395Ser)
c.1741G>A (p.Gly581Ser)
c.1705G>A (p.Gly569Ser)
c.1552G>A (p.Gly518Ser)
16g.57661740G>CCA396053250ADGRG1c.1708G>C (p.Gly570Arg)
c.1726G>C (p.Gly576Arg)
c.1723G>C (p.Gly575Arg)
c.*1389G>C (n.*1389G>C)
c.*1371G>C (n.*1371G>C)
c.1216G>C (p.Gly406Arg)
c.1201G>C (p.Gly401Arg)
c.1183G>C (p.Gly395Arg)
c.1741G>C (p.Gly581Arg)
c.1705G>C (p.Gly569Arg)
c.1552G>C (p.Gly518Arg)
16g.57661740G>TCA396053252ADGRG1c.1708G>T (p.Gly570Cys)
c.1726G>T (p.Gly576Cys)
c.1723G>T (p.Gly575Cys)
c.*1389G>T (n.*1389G>T)
c.*1371G>T (n.*1371G>T)
c.1216G>T (p.Gly406Cys)
c.1201G>T (p.Gly401Cys)
c.1183G>T (p.Gly395Cys)
c.1741G>T (p.Gly581Cys)
c.1705G>T (p.Gly569Cys)
c.1552G>T (p.Gly518Cys)
16g.57661741G>ACA396053255ADGRG1c.1709G>A (p.Gly570Asp)
c.1727G>A (p.Gly576Asp)
c.1724G>A (p.Gly575Asp)
c.*1390G>A (n.*1390G>A)
c.*1372G>A (n.*1372G>A)
c.1217G>A (p.Gly406Asp)
c.1202G>A (p.Gly401Asp)
c.1184G>A (p.Gly395Asp)
c.1742G>A (p.Gly581Asp)
c.1706G>A (p.Gly569Asp)
c.1553G>A (p.Gly518Asp)
 gnomAD v4
16g.57661741G>CCA396053257ADGRG1c.1709G>C (p.Gly570Ala)
c.1727G>C (p.Gly576Ala)
c.1724G>C (p.Gly575Ala)
c.*1390G>C (n.*1390G>C)
c.*1372G>C (n.*1372G>C)
c.1217G>C (p.Gly406Ala)
c.1202G>C (p.Gly401Ala)
c.1184G>C (p.Gly395Ala)
c.1742G>C (p.Gly581Ala)
c.1706G>C (p.Gly569Ala)
c.1553G>C (p.Gly518Ala)
16g.57661741G>TCA396053259ADGRG1c.1709G>T (p.Gly570Val)
c.1727G>T (p.Gly576Val)
c.1724G>T (p.Gly575Val)
c.*1390G>T (n.*1390G>T)
c.*1372G>T (n.*1372G>T)
c.1217G>T (p.Gly406Val)
c.1202G>T (p.Gly401Val)
c.1184G>T (p.Gly395Val)
c.1742G>T (p.Gly581Val)
c.1706G>T (p.Gly569Val)
c.1553G>T (p.Gly518Val)
16g.57661742C>ACA495791254ADGRG1c.1710C>A (p.Gly570=)
c.1728C>A (p.Gly576=)
c.1725C>A (p.Gly575=)
c.*1391C>A (n.*1391C>A)
c.*1373C>A (n.*1373C>A)
c.1218C>A (p.Gly406=)
c.1203C>A (p.Gly401=)
c.1185C>A (p.Gly395=)
c.1743C>A (p.Gly581=)
c.1707C>A (p.Gly569=)
c.1554C>A (p.Gly518=)
 ClinVar gnomAD v4
16g.57661742C>GCA495791255ADGRG1c.1710C>G (p.Gly570=)
c.1728C>G (p.Gly576=)
c.1725C>G (p.Gly575=)
c.*1391C>G (n.*1391C>G)
c.*1373C>G (n.*1373C>G)
c.1218C>G (p.Gly406=)
c.1203C>G (p.Gly401=)
c.1185C>G (p.Gly395=)
c.1743C>G (p.Gly581=)
c.1707C>G (p.Gly569=)
c.1554C>G (p.Gly518=)
16g.57661742C>TCA495791256ADGRG1c.1710C>T (p.Gly570=)
c.1728C>T (p.Gly576=)
c.1725C>T (p.Gly575=)
c.*1391C>T (n.*1391C>T)
c.*1373C>T (n.*1373C>T)
c.1218C>T (p.Gly406=)
c.1203C>T (p.Gly401=)
c.1185C>T (p.Gly395=)
c.1743C>T (p.Gly581=)
c.1707C>T (p.Gly569=)
c.1554C>T (p.Gly518=)
16g.57661743C>ACA396053263ADGRG1c.1711C>A (p.Leu571Ile)
c.1729C>A (p.Leu577Ile)
c.1726C>A (p.Leu576Ile)
c.*1392C>A (n.*1392C>A)
c.*1374C>A (n.*1374C>A)
c.1219C>A (p.Leu407Ile)
c.1204C>A (p.Leu402Ile)
c.1186C>A (p.Leu396Ile)
c.1744C>A (p.Leu582Ile)
c.1708C>A (p.Leu570Ile)
c.1555C>A (p.Leu519Ile)
16g.57661743C=CA2224716721ADGRG1c.1711C= (p.Leu571=)
c.1729C= (p.Leu577=)
c.1726C= (p.Leu576=)
c.*1392C= (n.*1392C=)
c.*1374C= (n.*1374C=)
c.1219C= (p.Leu407=)
c.1204C= (p.Leu402=)
c.1186C= (p.Leu396=)
c.1744C= (p.Leu582=)
c.1708C= (p.Leu570=)
c.1555C= (p.Leu519=)
16g.57661743C>GCA396053261ADGRG1c.1711C>G (p.Leu571Val)
c.1729C>G (p.Leu577Val)
c.1726C>G (p.Leu576Val)
c.*1392C>G (n.*1392C>G)
c.*1374C>G (n.*1374C>G)
c.1219C>G (p.Leu407Val)
c.1204C>G (p.Leu402Val)
c.1186C>G (p.Leu396Val)
c.1744C>G (p.Leu582Val)
c.1708C>G (p.Leu570Val)
c.1555C>G (p.Leu519Val)
16g.57661743C>TCA396053262ADGRG1c.1711C>T (p.Leu571Phe)
c.1729C>T (p.Leu577Phe)
c.1726C>T (p.Leu576Phe)
c.*1392C>T (n.*1392C>T)
c.*1374C>T (n.*1374C>T)
c.1219C>T (p.Leu407Phe)
c.1204C>T (p.Leu402Phe)
c.1186C>T (p.Leu396Phe)
c.1744C>T (p.Leu582Phe)
c.1708C>T (p.Leu570Phe)
c.1555C>T (p.Leu519Phe)
 dbSNP
16g.57661744T>ACA396053266ADGRG1c.1712T>A (p.Leu571His)
c.1730T>A (p.Leu577His)
c.1727T>A (p.Leu576His)
c.*1393T>A (n.*1393T>A)
c.*1375T>A (n.*1375T>A)
c.1220T>A (p.Leu407His)
c.1205T>A (p.Leu402His)
c.1187T>A (p.Leu396His)
c.1745T>A (p.Leu582His)
c.1709T>A (p.Leu570His)
c.1556T>A (p.Leu519His)
16g.57661744T>CCA396053268ADGRG1c.1712T>C (p.Leu571Pro)
c.1730T>C (p.Leu577Pro)
c.1727T>C (p.Leu576Pro)
c.*1393T>C (n.*1393T>C)
c.*1375T>C (n.*1375T>C)
c.1220T>C (p.Leu407Pro)
c.1205T>C (p.Leu402Pro)
c.1187T>C (p.Leu396Pro)
c.1745T>C (p.Leu582Pro)
c.1709T>C (p.Leu570Pro)
c.1556T>C (p.Leu519Pro)
16g.57661744T>GCA396053270ADGRG1c.1712T>G (p.Leu571Arg)
c.1730T>G (p.Leu577Arg)
c.1727T>G (p.Leu576Arg)
c.*1393T>G (n.*1393T>G)
c.*1375T>G (n.*1375T>G)
c.1220T>G (p.Leu407Arg)
c.1205T>G (p.Leu402Arg)
c.1187T>G (p.Leu396Arg)
c.1745T>G (p.Leu582Arg)
c.1709T>G (p.Leu570Arg)
c.1556T>G (p.Leu519Arg)
16g.57661745C>ACA495791257ADGRG1c.1713C>A (p.Leu571=)
c.1731C>A (p.Leu577=)
c.1728C>A (p.Leu576=)
c.*1394C>A (n.*1394C>A)
c.*1376C>A (n.*1376C>A)
c.1221C>A (p.Leu407=)
c.1206C>A (p.Leu402=)
c.1188C>A (p.Leu396=)
c.1746C>A (p.Leu582=)
c.1710C>A (p.Leu570=)
c.1557C>A (p.Leu519=)
16g.57661745C>GCA495791258ADGRG1c.1713C>G (p.Leu571=)
c.1731C>G (p.Leu577=)
c.1728C>G (p.Leu576=)
c.*1394C>G (n.*1394C>G)
c.*1376C>G (n.*1376C>G)
c.1221C>G (p.Leu407=)
c.1206C>G (p.Leu402=)
c.1188C>G (p.Leu396=)
c.1746C>G (p.Leu582=)
c.1710C>G (p.Leu570=)
c.1557C>G (p.Leu519=)
16g.57661745C>TCA495791259ADGRG1c.1713C>T (p.Leu571=)
c.1731C>T (p.Leu577=)
c.1728C>T (p.Leu576=)
c.*1394C>T (n.*1394C>T)
c.*1376C>T (n.*1376C>T)
c.1221C>T (p.Leu407=)
c.1206C>T (p.Leu402=)
c.1188C>T (p.Leu396=)
c.1746C>T (p.Leu582=)
c.1710C>T (p.Leu570=)
c.1557C>T (p.Leu519=)
16g.57661746T>ACA396053272ADGRG1c.1714T>A (p.Phe572Ile)
c.1732T>A (p.Phe578Ile)
c.1729T>A (p.Phe577Ile)
c.*1395T>A (n.*1395T>A)
c.*1377T>A (n.*1377T>A)
c.1222T>A (p.Phe408Ile)
c.1207T>A (p.Phe403Ile)
c.1189T>A (p.Phe397Ile)
c.1747T>A (p.Phe583Ile)
c.1711T>A (p.Phe571Ile)
c.1558T>A (p.Phe520Ile)
16g.57661746T>CCA396053274ADGRG1c.1714T>C (p.Phe572Leu)
c.1732T>C (p.Phe578Leu)
c.1729T>C (p.Phe577Leu)
c.*1395T>C (n.*1395T>C)
c.*1377T>C (n.*1377T>C)
c.1222T>C (p.Phe408Leu)
c.1207T>C (p.Phe403Leu)
c.1189T>C (p.Phe397Leu)
c.1747T>C (p.Phe583Leu)
c.1711T>C (p.Phe571Leu)
c.1558T>C (p.Phe520Leu)
16g.57661746T>GCA396053276ADGRG1c.1714T>G (p.Phe572Val)
c.1732T>G (p.Phe578Val)
c.1729T>G (p.Phe577Val)
c.*1395T>G (n.*1395T>G)
c.*1377T>G (n.*1377T>G)
c.1222T>G (p.Phe408Val)
c.1207T>G (p.Phe403Val)
c.1189T>G (p.Phe397Val)
c.1747T>G (p.Phe583Val)
c.1711T>G (p.Phe571Val)
c.1558T>G (p.Phe520Val)
 COSMIC
16g.57661746_57661747insCCA2633490003ADGRG1c.1714_1715insC (p.Phe572SerfsTer?)
c.1732_1733insC (p.Phe578SerfsTer?)
c.1729_1730insC (p.Phe577SerfsTer?)
c.*1395_*1396insC (n.*1395_*1396insC)
c.*1377_*1378insC (n.*1377_*1378insC)
c.1222_1223insC (p.Phe408SerfsTer?)
c.1207_1208insC (p.Phe403SerfsTer?)
c.1189_1190insC (p.Phe397SerfsTer?)
c.1747_1748insC (p.Phe583SerfsTer?)
c.1711_1712insC (p.Phe571SerfsTer?)
c.1558_1559insC (p.Phe520SerfsTer?)
 gnomAD v4
16g.57661747T>ACA396053278ADGRG1c.1715T>A (p.Phe572Tyr)
c.1733T>A (p.Phe578Tyr)
c.1730T>A (p.Phe577Tyr)
c.*1396T>A (n.*1396T>A)
c.*1378T>A (n.*1378T>A)
c.1223T>A (p.Phe408Tyr)
c.1208T>A (p.Phe403Tyr)
c.1190T>A (p.Phe397Tyr)
c.1748T>A (p.Phe583Tyr)
c.1712T>A (p.Phe571Tyr)
c.1559T>A (p.Phe520Tyr)
16g.57661747T>CCA396053281ADGRG1c.1715T>C (p.Phe572Ser)
c.1733T>C (p.Phe578Ser)
c.1730T>C (p.Phe577Ser)
c.*1396T>C (n.*1396T>C)
c.*1378T>C (n.*1378T>C)
c.1223T>C (p.Phe408Ser)
c.1208T>C (p.Phe403Ser)
c.1190T>C (p.Phe397Ser)
c.1748T>C (p.Phe583Ser)
c.1712T>C (p.Phe571Ser)
c.1559T>C (p.Phe520Ser)
16g.57661747T>GCA396053282ADGRG1c.1715T>G (p.Phe572Cys)
c.1733T>G (p.Phe578Cys)
c.1730T>G (p.Phe577Cys)
c.*1396T>G (n.*1396T>G)
c.*1378T>G (n.*1378T>G)
c.1223T>G (p.Phe408Cys)
c.1208T>G (p.Phe403Cys)
c.1190T>G (p.Phe397Cys)
c.1748T>G (p.Phe583Cys)
c.1712T>G (p.Phe571Cys)
c.1559T>G (p.Phe520Cys)
16g.57661748C>ACA396053285ADGRG1c.1716C>A (p.Phe572Leu)
c.1734C>A (p.Phe578Leu)
c.1731C>A (p.Phe577Leu)
c.*1397C>A (n.*1397C>A)
c.*1379C>A (n.*1379C>A)
c.1224C>A (p.Phe408Leu)
c.1209C>A (p.Phe403Leu)
c.1191C>A (p.Phe397Leu)
c.1749C>A (p.Phe583Leu)
c.1713C>A (p.Phe571Leu)
c.1560C>A (p.Phe520Leu)
16g.57661748C>GCA396053287ADGRG1c.1716C>G (p.Phe572Leu)
c.1734C>G (p.Phe578Leu)
c.1731C>G (p.Phe577Leu)
c.*1397C>G (n.*1397C>G)
c.*1379C>G (n.*1379C>G)
c.1224C>G (p.Phe408Leu)
c.1209C>G (p.Phe403Leu)
c.1191C>G (p.Phe397Leu)
c.1749C>G (p.Phe583Leu)
c.1713C>G (p.Phe571Leu)
c.1560C>G (p.Phe520Leu)
16g.57661748C>TCA495791261ADGRG1c.1716C>T (p.Phe572=)
c.1734C>T (p.Phe578=)
c.1731C>T (p.Phe577=)
c.*1397C>T (n.*1397C>T)
c.*1379C>T (n.*1379C>T)
c.1224C>T (p.Phe408=)
c.1209C>T (p.Phe403=)
c.1191C>T (p.Phe397=)
c.1749C>T (p.Phe583=)
c.1713C>T (p.Phe571=)
c.1560C>T (p.Phe520=)
 ClinVar dbSNP
16g.57661748_57661754dupCA2582342522ADGRG1c.1716_1722dup (p.Val575GlnfsTer?)
c.1734_1740dup (p.Val581GlnfsTer?)
c.1731_1737dup (p.Val580GlnfsTer?)
c.*1397_*1403dup (n.*1397_*1403dup)
c.*1379_*1385dup (n.*1379_*1385dup)
c.1224_1230dup (p.Val411GlnfsTer?)
c.1209_1215dup (p.Val406GlnfsTer?)
c.1191_1197dup (p.Val400GlnfsTer?)
c.1749_1755dup (p.Val586GlnfsTer?)
c.1713_1719dup (p.Val574GlnfsTer?)
c.1560_1566dup (p.Val523GlnfsTer?)
 ClinVar
16g.57661749A>CCA396053294ADGRG1c.1717A>C (p.Ser573Arg)
c.1735A>C (p.Ser579Arg)
c.1732A>C (p.Ser578Arg)
c.*1398A>C (n.*1398A>C)
c.*1380A>C (n.*1380A>C)
c.1225A>C (p.Ser409Arg)
c.1210A>C (p.Ser404Arg)
c.1192A>C (p.Ser398Arg)
c.1750A>C (p.Ser584Arg)
c.1714A>C (p.Ser572Arg)
c.1561A>C (p.Ser521Arg)
16g.57661749A>GCA396053290ADGRG1c.1717A>G (p.Ser573Gly)
c.1735A>G (p.Ser579Gly)
c.1732A>G (p.Ser578Gly)
c.*1398A>G (n.*1398A>G)
c.*1380A>G (n.*1380A>G)
c.1225A>G (p.Ser409Gly)
c.1210A>G (p.Ser404Gly)
c.1192A>G (p.Ser398Gly)
c.1750A>G (p.Ser584Gly)
c.1714A>G (p.Ser572Gly)
c.1561A>G (p.Ser521Gly)
16g.57661749A>TCA396053292ADGRG1c.1717A>T (p.Ser573Cys)
c.1735A>T (p.Ser579Cys)
c.1732A>T (p.Ser578Cys)
c.*1398A>T (n.*1398A>T)
c.*1380A>T (n.*1380A>T)
c.1225A>T (p.Ser409Cys)
c.1210A>T (p.Ser404Cys)
c.1192A>T (p.Ser398Cys)
c.1750A>T (p.Ser584Cys)
c.1714A>T (p.Ser572Cys)
c.1561A>T (p.Ser521Cys)
16g.57661750G>ACA396053296ADGRG1c.1718G>A (p.Ser573Asn)
c.1736G>A (p.Ser579Asn)
c.1733G>A (p.Ser578Asn)
c.*1399G>A (n.*1399G>A)
c.*1381G>A (n.*1381G>A)
c.1226G>A (p.Ser409Asn)
c.1211G>A (p.Ser404Asn)
c.1193G>A (p.Ser398Asn)
c.1751G>A (p.Ser584Asn)
c.1715G>A (p.Ser572Asn)
c.1562G>A (p.Ser521Asn)
16g.57661750G>CCA396053300ADGRG1c.1718G>C (p.Ser573Thr)
c.1736G>C (p.Ser579Thr)
c.1733G>C (p.Ser578Thr)
c.*1399G>C (n.*1399G>C)
c.*1381G>C (n.*1381G>C)
c.1226G>C (p.Ser409Thr)
c.1211G>C (p.Ser404Thr)
c.1193G>C (p.Ser398Thr)
c.1751G>C (p.Ser584Thr)
c.1715G>C (p.Ser572Thr)
c.1562G>C (p.Ser521Thr)
16g.57661750G>TCA396053298ADGRG1c.1718G>T (p.Ser573Ile)
c.1736G>T (p.Ser579Ile)
c.1733G>T (p.Ser578Ile)
c.*1399G>T (n.*1399G>T)
c.*1381G>T (n.*1381G>T)
c.1226G>T (p.Ser409Ile)
c.1211G>T (p.Ser404Ile)
c.1193G>T (p.Ser398Ile)
c.1751G>T (p.Ser584Ile)
c.1715G>T (p.Ser572Ile)
c.1562G>T (p.Ser521Ile)
16g.57661751C>ACA396053302ADGRG1c.1719C>A (p.Ser573Arg)
c.1737C>A (p.Ser579Arg)
c.1734C>A (p.Ser578Arg)
c.*1400C>A (n.*1400C>A)
c.*1382C>A (n.*1382C>A)
c.1227C>A (p.Ser409Arg)
c.1212C>A (p.Ser404Arg)
c.1194C>A (p.Ser398Arg)
c.1752C>A (p.Ser584Arg)
c.1716C>A (p.Ser572Arg)
c.1563C>A (p.Ser521Arg)
16g.57661751C=CA2224716722ADGRG1c.1719C= (p.Ser573=)
c.1737C= (p.Ser579=)
c.1734C= (p.Ser578=)
c.*1400C= (n.*1400C=)
c.*1382C= (n.*1382C=)
c.1227C= (p.Ser409=)
c.1212C= (p.Ser404=)
c.1194C= (p.Ser398=)
c.1752C= (p.Ser584=)
c.1716C= (p.Ser572=)
c.1563C= (p.Ser521=)
16g.57661751C>GCA396053304ADGRG1c.1719C>G (p.Ser573Arg)
c.1737C>G (p.Ser579Arg)
c.1734C>G (p.Ser578Arg)
c.*1400C>G (n.*1400C>G)
c.*1382C>G (n.*1382C>G)
c.1227C>G (p.Ser409Arg)
c.1212C>G (p.Ser404Arg)
c.1194C>G (p.Ser398Arg)
c.1752C>G (p.Ser584Arg)
c.1716C>G (p.Ser572Arg)
c.1563C>G (p.Ser521Arg)
16g.57661751C>TCA495791264ADGRG1c.1719C>T (p.Ser573=)
c.1737C>T (p.Ser579=)
c.1734C>T (p.Ser578=)
c.*1400C>T (n.*1400C>T)
c.*1382C>T (n.*1382C>T)
c.1227C>T (p.Ser409=)
c.1212C>T (p.Ser404=)
c.1194C>T (p.Ser398=)
c.1752C>T (p.Ser584=)
c.1716C>T (p.Ser572=)
c.1563C>T (p.Ser521=)
 dbSNP gnomAD v2 gnomAD v4
16g.57661752C>ACA396053306ADGRG1c.1720C>A (p.Leu574Met)
c.1738C>A (p.Leu580Met)
c.1735C>A (p.Leu579Met)
c.*1401C>A (n.*1401C>A)
c.*1383C>A (n.*1383C>A)
c.1228C>A (p.Leu410Met)
c.1213C>A (p.Leu405Met)
c.1195C>A (p.Leu399Met)
c.1753C>A (p.Leu585Met)
c.1717C>A (p.Leu573Met)
c.1564C>A (p.Leu522Met)
16g.57661752C=CA2224716723ADGRG1c.1720C= (p.Leu574=)
c.1738C= (p.Leu580=)
c.1735C= (p.Leu579=)
c.*1401C= (n.*1401C=)
c.*1383C= (n.*1383C=)
c.1228C= (p.Leu410=)
c.1213C= (p.Leu405=)
c.1195C= (p.Leu399=)
c.1753C= (p.Leu585=)
c.1717C= (p.Leu573=)
c.1564C= (p.Leu522=)
16g.57661752C>GCA396053308ADGRG1c.1720C>G (p.Leu574Val)
c.1738C>G (p.Leu580Val)
c.1735C>G (p.Leu579Val)
c.*1401C>G (n.*1401C>G)
c.*1383C>G (n.*1383C>G)
c.1228C>G (p.Leu410Val)
c.1213C>G (p.Leu405Val)
c.1195C>G (p.Leu399Val)
c.1753C>G (p.Leu585Val)
c.1717C>G (p.Leu573Val)
c.1564C>G (p.Leu522Val)
16g.57661752C>TCA495791265ADGRG1c.1720C>T (p.Leu574=)
c.1738C>T (p.Leu580=)
c.1735C>T (p.Leu579=)
c.*1401C>T (n.*1401C>T)
c.*1383C>T (n.*1383C>T)
c.1228C>T (p.Leu410=)
c.1213C>T (p.Leu405=)
c.1195C>T (p.Leu399=)
c.1753C>T (p.Leu585=)
c.1717C>T (p.Leu573=)
c.1564C>T (p.Leu522=)
 dbSNP gnomAD v4
16g.57661753T>ACA396053310ADGRG1c.1721T>A (p.Leu574Gln)
c.1739T>A (p.Leu580Gln)
c.1736T>A (p.Leu579Gln)
c.*1402T>A (n.*1402T>A)
c.*1384T>A (n.*1384T>A)
c.1229T>A (p.Leu410Gln)
c.1214T>A (p.Leu405Gln)
c.1196T>A (p.Leu399Gln)
c.1754T>A (p.Leu585Gln)
c.1718T>A (p.Leu573Gln)
c.1565T>A (p.Leu522Gln)
16g.57661753T>CCA396053312ADGRG1c.1721T>C (p.Leu574Pro)
c.1739T>C (p.Leu580Pro)
c.1736T>C (p.Leu579Pro)
c.*1402T>C (n.*1402T>C)
c.*1384T>C (n.*1384T>C)
c.1229T>C (p.Leu410Pro)
c.1214T>C (p.Leu405Pro)
c.1196T>C (p.Leu399Pro)
c.1754T>C (p.Leu585Pro)
c.1718T>C (p.Leu573Pro)
c.1565T>C (p.Leu522Pro)
 dbSNP gnomAD v4
16g.57661753T>GCA396053314ADGRG1c.1721T>G (p.Leu574Arg)
c.1739T>G (p.Leu580Arg)
c.1736T>G (p.Leu579Arg)
c.*1402T>G (n.*1402T>G)
c.*1384T>G (n.*1384T>G)
c.1229T>G (p.Leu410Arg)
c.1214T>G (p.Leu405Arg)
c.1196T>G (p.Leu399Arg)
c.1754T>G (p.Leu585Arg)
c.1718T>G (p.Leu573Arg)
c.1565T>G (p.Leu522Arg)
16g.57661753T=CA2224716724ADGRG1c.1721T= (p.Leu574=)
c.1739T= (p.Leu580=)
c.1736T= (p.Leu579=)
c.*1402T= (n.*1402T=)
c.*1384T= (n.*1384T=)
c.1229T= (p.Leu410=)
c.1214T= (p.Leu405=)
c.1196T= (p.Leu399=)
c.1754T= (p.Leu585=)
c.1718T= (p.Leu573=)
c.1565T= (p.Leu522=)
16g.57661755_57661757delCA2633490010ADGRG1c.1723_1725del (p.Val575del)
c.1741_1743del (p.Val581del)
c.1738_1740del (p.Val580del)
c.*1404_*1406del (n.*1404_*1406del)
c.*1386_*1388del (n.*1386_*1388del)
c.1231_1233del (p.Val411del)
c.1216_1218del (p.Val406del)
c.1198_1200del (p.Val400del)
c.1756_1758del (p.Val586del)
c.1720_1722del (p.Val574del)
c.1567_1569del (p.Val523del)
 gnomAD v4
16g.57661754G>ACA495791268ADGRG1c.1722G>A (p.Leu574=)
c.1740G>A (p.Leu580=)
c.1737G>A (p.Leu579=)
c.*1403G>A (n.*1403G>A)
c.*1385G>A (n.*1385G>A)
c.1230G>A (p.Leu410=)
c.1215G>A (p.Leu405=)
c.1197G>A (p.Leu399=)
c.1755G>A (p.Leu585=)
c.1719G>A (p.Leu573=)
c.1566G>A (p.Leu522=)
16g.57661754G>CCA495791267ADGRG1c.1722G>C (p.Leu574=)
c.1740G>C (p.Leu580=)
c.1737G>C (p.Leu579=)
c.*1403G>C (n.*1403G>C)
c.*1385G>C (n.*1385G>C)
c.1230G>C (p.Leu410=)
c.1215G>C (p.Leu405=)
c.1197G>C (p.Leu399=)
c.1755G>C (p.Leu585=)
c.1719G>C (p.Leu573=)
c.1566G>C (p.Leu522=)
 gnomAD v4
16g.57661754G>TCA495791266ADGRG1c.1722G>T (p.Leu574=)
c.1740G>T (p.Leu580=)
c.1737G>T (p.Leu579=)
c.*1403G>T (n.*1403G>T)
c.*1385G>T (n.*1385G>T)
c.1230G>T (p.Leu410=)
c.1215G>T (p.Leu405=)
c.1197G>T (p.Leu399=)
c.1755G>T (p.Leu585=)
c.1719G>T (p.Leu573=)
c.1566G>T (p.Leu522=)
16g.57661755G>ACA396053316ADGRG1c.1723G>A (p.Val575Met)
c.1741G>A (p.Val581Met)
c.1738G>A (p.Val580Met)
c.*1404G>A (n.*1404G>A)
c.*1386G>A (n.*1386G>A)
c.1231G>A (p.Val411Met)
c.1216G>A (p.Val406Met)
c.1198G>A (p.Val400Met)
c.1756G>A (p.Val586Met)
c.1720G>A (p.Val574Met)
c.1567G>A (p.Val523Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.57661755G>CCA396053318ADGRG1c.1723G>C (p.Val575Leu)
c.1741G>C (p.Val581Leu)
c.1738G>C (p.Val580Leu)
c.*1404G>C (n.*1404G>C)
c.*1386G>C (n.*1386G>C)
c.1231G>C (p.Val411Leu)
c.1216G>C (p.Val406Leu)
c.1198G>C (p.Val400Leu)
c.1756G>C (p.Val586Leu)
c.1720G>C (p.Val574Leu)
c.1567G>C (p.Val523Leu)
16g.57661755G=CA2224716725ADGRG1c.1723G= (p.Val575=)
c.1741G= (p.Val581=)
c.1738G= (p.Val580=)
c.*1404G= (n.*1404G=)
c.*1386G= (n.*1386G=)
c.1231G= (p.Val411=)
c.1216G= (p.Val406=)
c.1198G= (p.Val400=)
c.1756G= (p.Val586=)
c.1720G= (p.Val574=)
c.1567G= (p.Val523=)
16g.57661755G>TCA396053320ADGRG1c.1723G>T (p.Val575Leu)
c.1741G>T (p.Val581Leu)
c.1738G>T (p.Val580Leu)
c.*1404G>T (n.*1404G>T)
c.*1386G>T (n.*1386G>T)
c.1231G>T (p.Val411Leu)
c.1216G>T (p.Val406Leu)
c.1198G>T (p.Val400Leu)
c.1756G>T (p.Val586Leu)
c.1720G>T (p.Val574Leu)
c.1567G>T (p.Val523Leu)
16g.57661756T>ACA396053322ADGRG1c.1724T>A (p.Val575Glu)
c.1742T>A (p.Val581Glu)
c.1739T>A (p.Val580Glu)
c.*1405T>A (n.*1405T>A)
c.*1387T>A (n.*1387T>A)
c.1232T>A (p.Val411Glu)
c.1217T>A (p.Val406Glu)
c.1199T>A (p.Val400Glu)
c.1757T>A (p.Val586Glu)
c.1721T>A (p.Val574Glu)
c.1568T>A (p.Val523Glu)
16g.57661756T>CCA396053324ADGRG1c.1724T>C (p.Val575Ala)
c.1742T>C (p.Val581Ala)
c.1739T>C (p.Val580Ala)
c.*1405T>C (n.*1405T>C)
c.*1387T>C (n.*1387T>C)
c.1232T>C (p.Val411Ala)
c.1217T>C (p.Val406Ala)
c.1199T>C (p.Val400Ala)
c.1757T>C (p.Val586Ala)
c.1721T>C (p.Val574Ala)
c.1568T>C (p.Val523Ala)
16g.57661756T>GCA396053326ADGRG1c.1724T>G (p.Val575Gly)
c.1742T>G (p.Val581Gly)
c.1739T>G (p.Val580Gly)
c.*1405T>G (n.*1405T>G)
c.*1387T>G (n.*1387T>G)
c.1232T>G (p.Val411Gly)
c.1217T>G (p.Val406Gly)
c.1199T>G (p.Val400Gly)
c.1757T>G (p.Val586Gly)
c.1721T>G (p.Val574Gly)
c.1568T>G (p.Val523Gly)
16g.57661757G>ACA495791269ADGRG1c.1725G>A (p.Val575=)
c.1743G>A (p.Val581=)
c.1740G>A (p.Val580=)
c.*1406G>A (n.*1406G>A)
c.*1388G>A (n.*1388G>A)
c.1233G>A (p.Val411=)
c.1218G>A (p.Val406=)
c.1200G>A (p.Val400=)
c.1758G>A (p.Val586=)
c.1722G>A (p.Val574=)
c.1569G>A (p.Val523=)
16g.57661757G>CCA495791270ADGRG1c.1725G>C (p.Val575=)
c.1743G>C (p.Val581=)
c.1740G>C (p.Val580=)
c.*1406G>C (n.*1406G>C)
c.*1388G>C (n.*1388G>C)
c.1233G>C (p.Val411=)
c.1218G>C (p.Val406=)
c.1200G>C (p.Val400=)
c.1758G>C (p.Val586=)
c.1722G>C (p.Val574=)
c.1569G>C (p.Val523=)
16g.57661757G>TCA495791271ADGRG1c.1725G>T (p.Val575=)
c.1743G>T (p.Val581=)
c.1740G>T (p.Val580=)
c.*1406G>T (n.*1406G>T)
c.*1388G>T (n.*1388G>T)
c.1233G>T (p.Val411=)
c.1218G>T (p.Val406=)
c.1200G>T (p.Val400=)
c.1758G>T (p.Val586=)
c.1722G>T (p.Val574=)
c.1569G>T (p.Val523=)
16g.57661758T>ACA396053332ADGRG1c.1726T>A (p.Phe576Ile)
c.1744T>A (p.Phe582Ile)
c.1741T>A (p.Phe581Ile)
c.*1407T>A (n.*1407T>A)
c.*1389T>A (n.*1389T>A)
c.1234T>A (p.Phe412Ile)
c.1219T>A (p.Phe407Ile)
c.1201T>A (p.Phe401Ile)
c.1759T>A (p.Phe587Ile)
c.1723T>A (p.Phe575Ile)
c.1570T>A (p.Phe524Ile)
16g.57661758T>CCA396053329ADGRG1c.1726T>C (p.Phe576Leu)
c.1744T>C (p.Phe582Leu)
c.1741T>C (p.Phe581Leu)
c.*1407T>C (n.*1407T>C)
c.*1389T>C (n.*1389T>C)
c.1234T>C (p.Phe412Leu)
c.1219T>C (p.Phe407Leu)
c.1201T>C (p.Phe401Leu)
c.1759T>C (p.Phe587Leu)
c.1723T>C (p.Phe575Leu)
c.1570T>C (p.Phe524Leu)
 ClinVar dbSNP
16g.57661758T>GCA396053330ADGRG1c.1726T>G (p.Phe576Val)
c.1744T>G (p.Phe582Val)
c.1741T>G (p.Phe581Val)
c.*1407T>G (n.*1407T>G)
c.*1389T>G (n.*1389T>G)
c.1234T>G (p.Phe412Val)
c.1219T>G (p.Phe407Val)
c.1201T>G (p.Phe401Val)
c.1759T>G (p.Phe587Val)
c.1723T>G (p.Phe575Val)
c.1570T>G (p.Phe524Val)
 gnomAD v4
16g.57661759T>ACA396053335ADGRG1c.1727T>A (p.Phe576Tyr)
c.1745T>A (p.Phe582Tyr)
c.1742T>A (p.Phe581Tyr)
c.*1408T>A (n.*1408T>A)
c.*1390T>A (n.*1390T>A)
c.1235T>A (p.Phe412Tyr)
c.1220T>A (p.Phe407Tyr)
c.1202T>A (p.Phe401Tyr)
c.1760T>A (p.Phe587Tyr)
c.1724T>A (p.Phe575Tyr)
c.1571T>A (p.Phe524Tyr)
16g.57661759T>CCA396053336ADGRG1c.1727T>C (p.Phe576Ser)
c.1745T>C (p.Phe582Ser)
c.1742T>C (p.Phe581Ser)
c.*1408T>C (n.*1408T>C)
c.*1390T>C (n.*1390T>C)
c.1235T>C (p.Phe412Ser)
c.1220T>C (p.Phe407Ser)
c.1202T>C (p.Phe401Ser)
c.1760T>C (p.Phe587Ser)
c.1724T>C (p.Phe575Ser)
c.1571T>C (p.Phe524Ser)
 dbSNP
16g.57661759T>GCA396053339ADGRG1c.1727T>G (p.Phe576Cys)
c.1745T>G (p.Phe582Cys)
c.1742T>G (p.Phe581Cys)
c.*1408T>G (n.*1408T>G)
c.*1390T>G (n.*1390T>G)
c.1235T>G (p.Phe412Cys)
c.1220T>G (p.Phe407Cys)
c.1202T>G (p.Phe401Cys)
c.1760T>G (p.Phe587Cys)
c.1724T>G (p.Phe575Cys)
c.1571T>G (p.Phe524Cys)
16g.57661759T=CA2224716726ADGRG1c.1727T= (p.Phe576=)
c.1745T= (p.Phe582=)
c.1742T= (p.Phe581=)
c.*1408T= (n.*1408T=)
c.*1390T= (n.*1390T=)
c.1235T= (p.Phe412=)
c.1220T= (p.Phe407=)
c.1202T= (p.Phe401=)
c.1760T= (p.Phe587=)
c.1724T= (p.Phe575=)
c.1571T= (p.Phe524=)
16g.57661760T>ACA396053341ADGRG1c.1728T>A (p.Phe576Leu)
c.1746T>A (p.Phe582Leu)
c.1743T>A (p.Phe581Leu)
c.*1409T>A (n.*1409T>A)
c.*1391T>A (n.*1391T>A)
c.1236T>A (p.Phe412Leu)
c.1221T>A (p.Phe407Leu)
c.1203T>A (p.Phe401Leu)
c.1761T>A (p.Phe587Leu)
c.1725T>A (p.Phe575Leu)
c.1572T>A (p.Phe524Leu)
16g.57661760T>CCA495791272ADGRG1c.1728T>C (p.Phe576=)
c.1746T>C (p.Phe582=)
c.1743T>C (p.Phe581=)
c.*1409T>C (n.*1409T>C)
c.*1391T>C (n.*1391T>C)
c.1236T>C (p.Phe412=)
c.1221T>C (p.Phe407=)
c.1203T>C (p.Phe401=)
c.1761T>C (p.Phe587=)
c.1725T>C (p.Phe575=)
c.1572T>C (p.Phe524=)
16g.57661760T>GCA396053343ADGRG1c.1728T>G (p.Phe576Leu)
c.1746T>G (p.Phe582Leu)
c.1743T>G (p.Phe581Leu)
c.*1409T>G (n.*1409T>G)
c.*1391T>G (n.*1391T>G)
c.1236T>G (p.Phe412Leu)
c.1221T>G (p.Phe407Leu)
c.1203T>G (p.Phe401Leu)
c.1761T>G (p.Phe587Leu)
c.1725T>G (p.Phe575Leu)
c.1572T>G (p.Phe524Leu)
 gnomAD v4
16g.57661761C>ACA396053345ADGRG1c.1729C>A (p.Leu577Met)
c.1747C>A (p.Leu583Met)
c.1744C>A (p.Leu582Met)
c.*1410C>A (n.*1410C>A)
c.*1392C>A (n.*1392C>A)
c.1237C>A (p.Leu413Met)
c.1222C>A (p.Leu408Met)
c.1204C>A (p.Leu402Met)
c.1762C>A (p.Leu588Met)
c.1726C>A (p.Leu576Met)
c.1573C>A (p.Leu525Met)
16g.57661761C>GCA396053347ADGRG1c.1729C>G (p.Leu577Val)
c.1747C>G (p.Leu583Val)
c.1744C>G (p.Leu582Val)
c.*1410C>G (n.*1410C>G)
c.*1392C>G (n.*1392C>G)
c.1237C>G (p.Leu413Val)
c.1222C>G (p.Leu408Val)
c.1204C>G (p.Leu402Val)
c.1762C>G (p.Leu588Val)
c.1726C>G (p.Leu576Val)
c.1573C>G (p.Leu525Val)
 gnomAD v4
16g.57661761C>TCA495791273ADGRG1c.1729C>T (p.Leu577=)
c.1747C>T (p.Leu583=)
c.1744C>T (p.Leu582=)
c.*1410C>T (n.*1410C>T)
c.*1392C>T (n.*1392C>T)
c.1237C>T (p.Leu413=)
c.1222C>T (p.Leu408=)
c.1204C>T (p.Leu402=)
c.1762C>T (p.Leu588=)
c.1726C>T (p.Leu576=)
c.1573C>T (p.Leu525=)
16g.57661762T>ACA396053350ADGRG1c.1730T>A (p.Leu577Gln)
c.1748T>A (p.Leu583Gln)
c.1745T>A (p.Leu582Gln)
c.*1411T>A (n.*1411T>A)
c.*1393T>A (n.*1393T>A)
c.1238T>A (p.Leu413Gln)
c.1223T>A (p.Leu408Gln)
c.1205T>A (p.Leu402Gln)
c.1763T>A (p.Leu588Gln)
c.1727T>A (p.Leu576Gln)
c.1574T>A (p.Leu525Gln)
16g.57661762T>CCA396053352ADGRG1c.1730T>C (p.Leu577Pro)
c.1748T>C (p.Leu583Pro)
c.1745T>C (p.Leu582Pro)
c.*1411T>C (n.*1411T>C)
c.*1393T>C (n.*1393T>C)
c.1238T>C (p.Leu413Pro)
c.1223T>C (p.Leu408Pro)
c.1205T>C (p.Leu402Pro)
c.1763T>C (p.Leu588Pro)
c.1727T>C (p.Leu576Pro)
c.1574T>C (p.Leu525Pro)
16g.57661762T>GCA396053353ADGRG1c.1730T>G (p.Leu577Arg)
c.1748T>G (p.Leu583Arg)
c.1745T>G (p.Leu582Arg)
c.*1411T>G (n.*1411T>G)
c.*1393T>G (n.*1393T>G)
c.1238T>G (p.Leu413Arg)
c.1223T>G (p.Leu408Arg)
c.1205T>G (p.Leu402Arg)
c.1763T>G (p.Leu588Arg)
c.1727T>G (p.Leu576Arg)
c.1574T>G (p.Leu525Arg)
16g.57661763G>ACA495791274ADGRG1c.1731G>A (p.Leu577=)
c.1749G>A (p.Leu583=)
c.1746G>A (p.Leu582=)
c.*1412G>A (n.*1412G>A)
c.*1394G>A (n.*1394G>A)
c.1239G>A (p.Leu413=)
c.1224G>A (p.Leu408=)
c.1206G>A (p.Leu402=)
c.1764G>A (p.Leu588=)
c.1728G>A (p.Leu576=)
c.1575G>A (p.Leu525=)
16g.57661763G>CCA495791275ADGRG1c.1731G>C (p.Leu577=)
c.1749G>C (p.Leu583=)
c.1746G>C (p.Leu582=)
c.*1412G>C (n.*1412G>C)
c.*1394G>C (n.*1394G>C)
c.1239G>C (p.Leu413=)
c.1224G>C (p.Leu408=)
c.1206G>C (p.Leu402=)
c.1764G>C (p.Leu588=)
c.1728G>C (p.Leu576=)
c.1575G>C (p.Leu525=)
 gnomAD v4
16g.57661763G>TCA495791276ADGRG1c.1731G>T (p.Leu577=)
c.1749G>T (p.Leu583=)
c.1746G>T (p.Leu582=)
c.*1412G>T (n.*1412G>T)
c.*1394G>T (n.*1394G>T)
c.1239G>T (p.Leu413=)
c.1224G>T (p.Leu408=)
c.1206G>T (p.Leu402=)
c.1764G>T (p.Leu588=)
c.1728G>T (p.Leu576=)
c.1575G>T (p.Leu525=)
16g.57661764T>ACA396053357ADGRG1c.1732T>A (p.Phe578Ile)
c.1750T>A (p.Phe584Ile)
c.1747T>A (p.Phe583Ile)
c.*1413T>A (n.*1413T>A)
c.*1395T>A (n.*1395T>A)
c.1240T>A (p.Phe414Ile)
c.1225T>A (p.Phe409Ile)
c.1207T>A (p.Phe403Ile)
c.1765T>A (p.Phe589Ile)
c.1729T>A (p.Phe577Ile)
c.1576T>A (p.Phe526Ile)
16g.57661764T>CCA396053358ADGRG1c.1732T>C (p.Phe578Leu)
c.1750T>C (p.Phe584Leu)
c.1747T>C (p.Phe583Leu)
c.*1413T>C (n.*1413T>C)
c.*1395T>C (n.*1395T>C)
c.1240T>C (p.Phe414Leu)
c.1225T>C (p.Phe409Leu)
c.1207T>C (p.Phe403Leu)
c.1765T>C (p.Phe589Leu)
c.1729T>C (p.Phe577Leu)
c.1576T>C (p.Phe526Leu)
16g.57661764T>GCA396053356ADGRG1c.1732T>G (p.Phe578Val)
c.1750T>G (p.Phe584Val)
c.1747T>G (p.Phe583Val)
c.*1413T>G (n.*1413T>G)
c.*1395T>G (n.*1395T>G)
c.1240T>G (p.Phe414Val)
c.1225T>G (p.Phe409Val)
c.1207T>G (p.Phe403Val)
c.1765T>G (p.Phe589Val)
c.1729T>G (p.Phe577Val)
c.1576T>G (p.Phe526Val)
16g.57661765T>ACA396053360ADGRG1c.1733T>A (p.Phe578Tyr)
c.1751T>A (p.Phe584Tyr)
c.1748T>A (p.Phe583Tyr)
c.*1414T>A (n.*1414T>A)
c.*1396T>A (n.*1396T>A)
c.1241T>A (p.Phe414Tyr)
c.1226T>A (p.Phe409Tyr)
c.1208T>A (p.Phe403Tyr)
c.1766T>A (p.Phe589Tyr)
c.1730T>A (p.Phe577Tyr)
c.1577T>A (p.Phe526Tyr)
16g.57661765T>CCA396053362ADGRG1c.1733T>C (p.Phe578Ser)
c.1751T>C (p.Phe584Ser)
c.1748T>C (p.Phe583Ser)
c.*1414T>C (n.*1414T>C)
c.*1396T>C (n.*1396T>C)
c.1241T>C (p.Phe414Ser)
c.1226T>C (p.Phe409Ser)
c.1208T>C (p.Phe403Ser)
c.1766T>C (p.Phe589Ser)
c.1730T>C (p.Phe577Ser)
c.1577T>C (p.Phe526Ser)
16g.57661765T>GCA396053364ADGRG1c.1733T>G (p.Phe578Cys)
c.1751T>G (p.Phe584Cys)
c.1748T>G (p.Phe583Cys)
c.*1414T>G (n.*1414T>G)
c.*1396T>G (n.*1396T>G)
c.1241T>G (p.Phe414Cys)
c.1226T>G (p.Phe409Cys)
c.1208T>G (p.Phe403Cys)
c.1766T>G (p.Phe589Cys)
c.1730T>G (p.Phe577Cys)
c.1577T>G (p.Phe526Cys)
16g.57661766C>ACA396053366ADGRG1c.1734C>A (p.Phe578Leu)
c.1752C>A (p.Phe584Leu)
c.1749C>A (p.Phe583Leu)
c.*1415C>A (n.*1415C>A)
c.*1397C>A (n.*1397C>A)
c.1242C>A (p.Phe414Leu)
c.1227C>A (p.Phe409Leu)
c.1209C>A (p.Phe403Leu)
c.1767C>A (p.Phe589Leu)
c.1731C>A (p.Phe577Leu)
c.1578C>A (p.Phe526Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.57661766C=CA2224716727ADGRG1c.1734C= (p.Phe578=)
c.1752C= (p.Phe584=)
c.1749C= (p.Phe583=)
c.*1415C= (n.*1415C=)
c.*1397C= (n.*1397C=)
c.1242C= (p.Phe414=)
c.1227C= (p.Phe409=)
c.1209C= (p.Phe403=)
c.1767C= (p.Phe589=)
c.1731C= (p.Phe577=)
c.1578C= (p.Phe526=)
16g.57661766C>GCA396053368ADGRG1c.1734C>G (p.Phe578Leu)
c.1752C>G (p.Phe584Leu)
c.1749C>G (p.Phe583Leu)
c.*1415C>G (n.*1415C>G)
c.*1397C>G (n.*1397C>G)
c.1242C>G (p.Phe414Leu)
c.1227C>G (p.Phe409Leu)
c.1209C>G (p.Phe403Leu)
c.1767C>G (p.Phe589Leu)
c.1731C>G (p.Phe577Leu)
c.1578C>G (p.Phe526Leu)
16g.57661766C>TCA495791277ADGRG1c.1734C>T (p.Phe578=)
c.1752C>T (p.Phe584=)
c.1749C>T (p.Phe583=)
c.*1415C>T (n.*1415C>T)
c.*1397C>T (n.*1397C>T)
c.1242C>T (p.Phe414=)
c.1227C>T (p.Phe409=)
c.1209C>T (p.Phe403=)
c.1767C>T (p.Phe589=)
c.1731C>T (p.Phe577=)
c.1578C>T (p.Phe526=)
16g.57661767A>CCA396053374ADGRG1c.1735A>C (p.Asn579His)
c.1753A>C (p.Asn585His)
c.1750A>C (p.Asn584His)
c.*1416A>C (n.*1416A>C)
c.*1398A>C (n.*1398A>C)
c.1243A>C (p.Asn415His)
c.1228A>C (p.Asn410His)
c.1210A>C (p.Asn404His)
c.1768A>C (p.Asn590His)
c.1732A>C (p.Asn578His)
c.1579A>C (p.Asn527His)
16g.57661767A>GCA396053370ADGRG1c.1735A>G (p.Asn579Asp)
c.1753A>G (p.Asn585Asp)
c.1750A>G (p.Asn584Asp)
c.*1416A>G (n.*1416A>G)
c.*1398A>G (n.*1398A>G)
c.1243A>G (p.Asn415Asp)
c.1228A>G (p.Asn410Asp)
c.1210A>G (p.Asn404Asp)
c.1768A>G (p.Asn590Asp)
c.1732A>G (p.Asn578Asp)
c.1579A>G (p.Asn527Asp)
16g.57661767A>TCA396053372ADGRG1c.1735A>T (p.Asn579Tyr)
c.1753A>T (p.Asn585Tyr)
c.1750A>T (p.Asn584Tyr)
c.*1416A>T (n.*1416A>T)
c.*1398A>T (n.*1398A>T)
c.1243A>T (p.Asn415Tyr)
c.1228A>T (p.Asn410Tyr)
c.1210A>T (p.Asn404Tyr)
c.1768A>T (p.Asn590Tyr)
c.1732A>T (p.Asn578Tyr)
c.1579A>T (p.Asn527Tyr)
16g.57661768A=CA2224716728ADGRG1c.1736A= (p.Asn579=)
c.1754A= (p.Asn585=)
c.1751A= (p.Asn584=)
c.*1417A= (n.*1417A=)
c.*1399A= (n.*1399A=)
c.1244A= (p.Asn415=)
c.1229A= (p.Asn410=)
c.1211A= (p.Asn404=)
c.1769A= (p.Asn590=)
c.1733A= (p.Asn578=)
c.1580A= (p.Asn527=)
16g.57661768A>CCA396053377ADGRG1c.1736A>C (p.Asn579Thr)
c.1754A>C (p.Asn585Thr)
c.1751A>C (p.Asn584Thr)
c.*1417A>C (n.*1417A>C)
c.*1399A>C (n.*1399A>C)
c.1244A>C (p.Asn415Thr)
c.1229A>C (p.Asn410Thr)
c.1211A>C (p.Asn404Thr)
c.1769A>C (p.Asn590Thr)
c.1733A>C (p.Asn578Thr)
c.1580A>C (p.Asn527Thr)
16g.57661768A>GCA8078842ADGRG1c.1736A>G (p.Asn579Ser)
c.1754A>G (p.Asn585Ser)
c.1751A>G (p.Asn584Ser)
c.*1417A>G (n.*1417A>G)
c.*1399A>G (n.*1399A>G)
c.1244A>G (p.Asn415Ser)
c.1229A>G (p.Asn410Ser)
c.1211A>G (p.Asn404Ser)
c.1769A>G (p.Asn590Ser)
c.1733A>G (p.Asn578Ser)
c.1580A>G (p.Asn527Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.57661768A>TCA396053379ADGRG1c.1736A>T (p.Asn579Ile)
c.1754A>T (p.Asn585Ile)
c.1751A>T (p.Asn584Ile)
c.*1417A>T (n.*1417A>T)
c.*1399A>T (n.*1399A>T)
c.1244A>T (p.Asn415Ile)
c.1229A>T (p.Asn410Ile)
c.1211A>T (p.Asn404Ile)
c.1769A>T (p.Asn590Ile)
c.1733A>T (p.Asn578Ile)
c.1580A>T (p.Asn527Ile)
16g.57661769C>ACA396053380ADGRG1c.1737C>A (p.Asn579Lys)
c.1755C>A (p.Asn585Lys)
c.1752C>A (p.Asn584Lys)
c.*1418C>A (n.*1418C>A)
c.*1400C>A (n.*1400C>A)
c.1245C>A (p.Asn415Lys)
c.1230C>A (p.Asn410Lys)
c.1212C>A (p.Asn404Lys)
c.1770C>A (p.Asn590Lys)
c.1734C>A (p.Asn578Lys)
c.1581C>A (p.Asn527Lys)
16g.57661769C>GCA396053381ADGRG1c.1737C>G (p.Asn579Lys)
c.1755C>G (p.Asn585Lys)
c.1752C>G (p.Asn584Lys)
c.*1418C>G (n.*1418C>G)
c.*1400C>G (n.*1400C>G)
c.1245C>G (p.Asn415Lys)
c.1230C>G (p.Asn410Lys)
c.1212C>G (p.Asn404Lys)
c.1770C>G (p.Asn590Lys)
c.1734C>G (p.Asn578Lys)
c.1581C>G (p.Asn527Lys)
16g.57661769C>TCA495791278ADGRG1c.1737C>T (p.Asn579=)
c.1755C>T (p.Asn585=)
c.1752C>T (p.Asn584=)
c.*1418C>T (n.*1418C>T)
c.*1400C>T (n.*1400C>T)
c.1245C>T (p.Asn415=)
c.1230C>T (p.Asn410=)
c.1212C>T (p.Asn404=)
c.1770C>T (p.Asn590=)
c.1734C>T (p.Asn578=)
c.1581C>T (p.Asn527=)
16g.57661770A=CA2224716729ADGRG1c.1738A= (p.Met580=)
c.1756A= (p.Met586=)
c.1753A= (p.Met585=)
c.*1419A= (n.*1419A=)
c.*1401A= (n.*1401A=)
c.1246A= (p.Met416=)
c.1231A= (p.Met411=)
c.1213A= (p.Met405=)
c.1771A= (p.Met591=)
c.1735A= (p.Met579=)
c.1582A= (p.Met528=)
16g.57661770A>CCA396053384ADGRG1c.1738A>C (p.Met580Leu)
c.1756A>C (p.Met586Leu)
c.1753A>C (p.Met585Leu)
c.*1419A>C (n.*1419A>C)
c.*1401A>C (n.*1401A>C)
c.1246A>C (p.Met416Leu)
c.1231A>C (p.Met411Leu)
c.1213A>C (p.Met405Leu)
c.1771A>C (p.Met591Leu)
c.1735A>C (p.Met579Leu)
c.1582A>C (p.Met528Leu)
16g.57661770A>GCA281581908ADGRG1c.1738A>G (p.Met580Val)
c.1756A>G (p.Met586Val)
c.1753A>G (p.Met585Val)
c.*1419A>G (n.*1419A>G)
c.*1401A>G (n.*1401A>G)
c.1246A>G (p.Met416Val)
c.1231A>G (p.Met411Val)
c.1213A>G (p.Met405Val)
c.1771A>G (p.Met591Val)
c.1735A>G (p.Met579Val)
c.1582A>G (p.Met528Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.57661770A>TCA8078843ADGRG1c.1738A>T (p.Met580Leu)
c.1756A>T (p.Met586Leu)
c.1753A>T (p.Met585Leu)
c.*1419A>T (n.*1419A>T)
c.*1401A>T (n.*1401A>T)
c.1246A>T (p.Met416Leu)
c.1231A>T (p.Met411Leu)
c.1213A>T (p.Met405Leu)
c.1771A>T (p.Met591Leu)
c.1735A>T (p.Met579Leu)
c.1582A>T (p.Met528Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.57661771T>ACA396053386ADGRG1c.1739T>A (p.Met580Lys)
c.1757T>A (p.Met586Lys)
c.1754T>A (p.Met585Lys)
c.*1420T>A (n.*1420T>A)
c.*1402T>A (n.*1402T>A)
c.1247T>A (p.Met416Lys)
c.1232T>A (p.Met411Lys)
c.1214T>A (p.Met405Lys)
c.1772T>A (p.Met591Lys)
c.1736T>A (p.Met579Lys)
c.1583T>A (p.Met528Lys)
16g.57661771T>CCA8078844ADGRG1c.1739T>C (p.Met580Thr)
c.1757T>C (p.Met586Thr)
c.1754T>C (p.Met585Thr)
c.*1420T>C (n.*1420T>C)
c.*1402T>C (n.*1402T>C)
c.1247T>C (p.Met416Thr)
c.1232T>C (p.Met411Thr)
c.1214T>C (p.Met405Thr)
c.1772T>C (p.Met591Thr)
c.1736T>C (p.Met579Thr)
c.1583T>C (p.Met528Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.57661771T>GCA396053388ADGRG1c.1739T>G (p.Met580Arg)
c.1757T>G (p.Met586Arg)
c.1754T>G (p.Met585Arg)
c.*1420T>G (n.*1420T>G)
c.*1402T>G (n.*1402T>G)
c.1247T>G (p.Met416Arg)
c.1232T>G (p.Met411Arg)
c.1214T>G (p.Met405Arg)
c.1772T>G (p.Met591Arg)
c.1736T>G (p.Met579Arg)
c.1583T>G (p.Met528Arg)
16g.57661771T=CA2224716730ADGRG1c.1739T= (p.Met580=)
c.1757T= (p.Met586=)
c.1754T= (p.Met585=)
c.*1420T= (n.*1420T=)
c.*1402T= (n.*1402T=)
c.1247T= (p.Met416=)
c.1232T= (p.Met411=)
c.1214T= (p.Met405=)
c.1772T= (p.Met591=)
c.1736T= (p.Met579=)
c.1583T= (p.Met528=)
16g.57661772G>ACA396053390ADGRG1c.1740G>A (p.Met580Ile)
c.1758G>A (p.Met586Ile)
c.1755G>A (p.Met585Ile)
c.*1421G>A (n.*1421G>A)
c.*1403G>A (n.*1403G>A)
c.1248G>A (p.Met416Ile)
c.1233G>A (p.Met411Ile)
c.1215G>A (p.Met405Ile)
c.1773G>A (p.Met591Ile)
c.1737G>A (p.Met579Ile)
c.1584G>A (p.Met528Ile)
16g.57661772G>CCA396053392ADGRG1c.1740G>C (p.Met580Ile)
c.1758G>C (p.Met586Ile)
c.1755G>C (p.Met585Ile)
c.*1421G>C (n.*1421G>C)
c.*1403G>C (n.*1403G>C)
c.1248G>C (p.Met416Ile)
c.1233G>C (p.Met411Ile)
c.1215G>C (p.Met405Ile)
c.1773G>C (p.Met591Ile)
c.1737G>C (p.Met579Ile)
c.1584G>C (p.Met528Ile)
16g.57661772G>TCA396053394ADGRG1c.1740G>T (p.Met580Ile)
c.1758G>T (p.Met586Ile)
c.1755G>T (p.Met585Ile)
c.*1421G>T (n.*1421G>T)
c.*1403G>T (n.*1403G>T)
c.1248G>T (p.Met416Ile)
c.1233G>T (p.Met411Ile)
c.1215G>T (p.Met405Ile)
c.1773G>T (p.Met591Ile)
c.1737G>T (p.Met579Ile)
c.1584G>T (p.Met528Ile)
 gnomAD v4
16g.57661773G>ACA281581913ADGRG1c.1741G>A (p.Ala581Thr)
c.1759G>A (p.Ala587Thr)
c.1756G>A (p.Ala586Thr)
c.*1422G>A (n.*1422G>A)
c.*1404G>A (n.*1404G>A)
c.1249G>A (p.Ala417Thr)
c.1234G>A (p.Ala412Thr)
c.1216G>A (p.Ala406Thr)
c.1774G>A (p.Ala592Thr)
c.1738G>A (p.Ala580Thr)
c.1585G>A (p.Ala529Thr)
 dbSNP gnomAD v4
16g.57661773G>CCA396053398ADGRG1c.1741G>C (p.Ala581Pro)
c.1759G>C (p.Ala587Pro)
c.1756G>C (p.Ala586Pro)
c.*1422G>C (n.*1422G>C)
c.*1404G>C (n.*1404G>C)
c.1249G>C (p.Ala417Pro)
c.1234G>C (p.Ala412Pro)
c.1216G>C (p.Ala406Pro)
c.1774G>C (p.Ala592Pro)
c.1738G>C (p.Ala580Pro)
c.1585G>C (p.Ala529Pro)
16g.57661773G=CA2224716731ADGRG1c.1741G= (p.Ala581=)
c.1759G= (p.Ala587=)
c.1756G= (p.Ala586=)
c.*1422G= (n.*1422G=)
c.*1404G= (n.*1404G=)
c.1249G= (p.Ala417=)
c.1234G= (p.Ala412=)
c.1216G= (p.Ala406=)
c.1774G= (p.Ala592=)
c.1738G= (p.Ala580=)
c.1585G= (p.Ala529=)
16g.57661773G>TCA396053400ADGRG1c.1741G>T (p.Ala581Ser)
c.1759G>T (p.Ala587Ser)
c.1756G>T (p.Ala586Ser)
c.*1422G>T (n.*1422G>T)
c.*1404G>T (n.*1404G>T)
c.1249G>T (p.Ala417Ser)
c.1234G>T (p.Ala412Ser)
c.1216G>T (p.Ala406Ser)
c.1774G>T (p.Ala592Ser)
c.1738G>T (p.Ala580Ser)
c.1585G>T (p.Ala529Ser)
16g.57661774C>ACA396053403ADGRG1c.1742C>A (p.Ala581Asp)
c.1760C>A (p.Ala587Asp)
c.1757C>A (p.Ala586Asp)
c.*1423C>A (n.*1423C>A)
c.*1405C>A (n.*1405C>A)
c.1250C>A (p.Ala417Asp)
c.1235C>A (p.Ala412Asp)
c.1217C>A (p.Ala406Asp)
c.1775C>A (p.Ala592Asp)
c.1739C>A (p.Ala580Asp)
c.1586C>A (p.Ala529Asp)
16g.57661774C=CA2224716732ADGRG1c.1742C= (p.Ala581=)
c.1760C= (p.Ala587=)
c.1757C= (p.Ala586=)
c.*1423C= (n.*1423C=)
c.*1405C= (n.*1405C=)
c.1250C= (p.Ala417=)
c.1235C= (p.Ala412=)
c.1217C= (p.Ala406=)
c.1775C= (p.Ala592=)
c.1739C= (p.Ala580=)
c.1586C= (p.Ala529=)
16g.57661774C>GCA396053405ADGRG1c.1742C>G (p.Ala581Gly)
c.1760C>G (p.Ala587Gly)
c.1757C>G (p.Ala586Gly)
c.*1423C>G (n.*1423C>G)
c.*1405C>G (n.*1405C>G)
c.1250C>G (p.Ala417Gly)
c.1235C>G (p.Ala412Gly)
c.1217C>G (p.Ala406Gly)
c.1775C>G (p.Ala592Gly)
c.1739C>G (p.Ala580Gly)
c.1586C>G (p.Ala529Gly)
 dbSNP gnomAD v2 gnomAD v4
16g.57661774C>TCA396053406ADGRG1c.1742C>T (p.Ala581Val)
c.1760C>T (p.Ala587Val)
c.1757C>T (p.Ala586Val)
c.*1423C>T (n.*1423C>T)
c.*1405C>T (n.*1405C>T)
c.1250C>T (p.Ala417Val)
c.1235C>T (p.Ala412Val)
c.1217C>T (p.Ala406Val)
c.1775C>T (p.Ala592Val)
c.1739C>T (p.Ala580Val)
c.1586C>T (p.Ala529Val)
16g.57661775C>ACA495791283ADGRG1c.1743C>A (p.Ala581=)
c.1761C>A (p.Ala587=)
c.1758C>A (p.Ala586=)
c.*1424C>A (n.*1424C>A)
c.*1406C>A (n.*1406C>A)
c.1251C>A (p.Ala417=)
c.1236C>A (p.Ala412=)
c.1218C>A (p.Ala406=)
c.1776C>A (p.Ala592=)
c.1740C>A (p.Ala580=)
c.1587C>A (p.Ala529=)
16g.57661775C>GCA495791285ADGRG1c.1743C>G (p.Ala581=)
c.1761C>G (p.Ala587=)
c.1758C>G (p.Ala586=)
c.*1424C>G (n.*1424C>G)
c.*1406C>G (n.*1406C>G)
c.1251C>G (p.Ala417=)
c.1236C>G (p.Ala412=)
c.1218C>G (p.Ala406=)
c.1776C>G (p.Ala592=)
c.1740C>G (p.Ala580=)
c.1587C>G (p.Ala529=)
16g.57661775C>TCA495791286ADGRG1c.1743C>T (p.Ala581=)
c.1761C>T (p.Ala587=)
c.1758C>T (p.Ala586=)
c.*1424C>T (n.*1424C>T)
c.*1406C>T (n.*1406C>T)
c.1251C>T (p.Ala417=)
c.1236C>T (p.Ala412=)
c.1218C>T (p.Ala406=)
c.1776C>T (p.Ala592=)
c.1740C>T (p.Ala580=)
c.1587C>T (p.Ala529=)
16g.57661776A=CA2224716733ADGRG1c.1744A= (p.Met582=)
c.1762A= (p.Met588=)
c.1759A= (p.Met587=)
c.*1425A= (n.*1425A=)
c.*1407A= (n.*1407A=)
c.1252A= (p.Met418=)
c.1237A= (p.Met413=)
c.1219A= (p.Met407=)
c.1777A= (p.Met593=)
c.1741A= (p.Met581=)
c.1588A= (p.Met530=)
16g.57661776A>CCA396053414ADGRG1c.1744A>C (p.Met582Leu)
c.1762A>C (p.Met588Leu)
c.1759A>C (p.Met587Leu)
c.*1425A>C (n.*1425A>C)
c.*1407A>C (n.*1407A>C)
c.1252A>C (p.Met418Leu)
c.1237A>C (p.Met413Leu)
c.1219A>C (p.Met407Leu)
c.1777A>C (p.Met593Leu)
c.1741A>C (p.Met581Leu)
c.1588A>C (p.Met530Leu)
 gnomAD v4
16g.57661776A>GCA8078846ADGRG1c.1744A>G (p.Met582Val)
c.1762A>G (p.Met588Val)
c.1759A>G (p.Met587Val)
c.*1425A>G (n.*1425A>G)
c.*1407A>G (n.*1407A>G)
c.1252A>G (p.Met418Val)
c.1237A>G (p.Met413Val)
c.1219A>G (p.Met407Val)
c.1777A>G (p.Met593Val)
c.1741A>G (p.Met581Val)
c.1588A>G (p.Met530Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.57661776A>TCA8078845ADGRG1c.1744A>T (p.Met582Leu)
c.1762A>T (p.Met588Leu)
c.1759A>T (p.Met587Leu)
c.*1425A>T (n.*1425A>T)
c.*1407A>T (n.*1407A>T)
c.1252A>T (p.Met418Leu)
c.1237A>T (p.Met413Leu)
c.1219A>T (p.Met407Leu)
c.1777A>T (p.Met593Leu)
c.1741A>T (p.Met581Leu)
c.1588A>T (p.Met530Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.57661777T>ACA396053419ADGRG1c.1745T>A (p.Met582Lys)
c.1763T>A (p.Met588Lys)
c.1760T>A (p.Met587Lys)
c.*1426T>A (n.*1426T>A)
c.*1408T>A (n.*1408T>A)
c.1253T>A (p.Met418Lys)
c.1238T>A (p.Met413Lys)
c.1220T>A (p.Met407Lys)
c.1778T>A (p.Met593Lys)
c.1742T>A (p.Met581Lys)
c.1589T>A (p.Met530Lys)
16g.57661777T>CCA396053417ADGRG1c.1745T>C (p.Met582Thr)
c.1763T>C (p.Met588Thr)
c.1760T>C (p.Met587Thr)
c.*1426T>C (n.*1426T>C)
c.*1408T>C (n.*1408T>C)
c.1253T>C (p.Met418Thr)
c.1238T>C (p.Met413Thr)
c.1220T>C (p.Met407Thr)
c.1778T>C (p.Met593Thr)
c.1742T>C (p.Met581Thr)
c.1589T>C (p.Met530Thr)
16g.57661777T>GCA396053422ADGRG1c.1745T>G (p.Met582Arg)
c.1763T>G (p.Met588Arg)
c.1760T>G (p.Met587Arg)
c.*1426T>G (n.*1426T>G)
c.*1408T>G (n.*1408T>G)
c.1253T>G (p.Met418Arg)
c.1238T>G (p.Met413Arg)
c.1220T>G (p.Met407Arg)
c.1778T>G (p.Met593Arg)
c.1742T>G (p.Met581Arg)
c.1589T>G (p.Met530Arg)
16g.57661778G>ACA396053423ADGRG1c.1746G>A (p.Met582Ile)
c.1764G>A (p.Met588Ile)
c.1761G>A (p.Met587Ile)
c.*1427G>A (n.*1427G>A)
c.*1409G>A (n.*1409G>A)
c.1254G>A (p.Met418Ile)
c.1239G>A (p.Met413Ile)
c.1221G>A (p.Met407Ile)
c.1779G>A (p.Met593Ile)
c.1743G>A (p.Met581Ile)
c.1590G>A (p.Met530Ile)
16g.57661778G>CCA396053426ADGRG1c.1746G>C (p.Met582Ile)
c.1764G>C (p.Met588Ile)
c.1761G>C (p.Met587Ile)
c.*1427G>C (n.*1427G>C)
c.*1409G>C (n.*1409G>C)
c.1254G>C (p.Met418Ile)
c.1239G>C (p.Met413Ile)
c.1221G>C (p.Met407Ile)
c.1779G>C (p.Met593Ile)
c.1743G>C (p.Met581Ile)
c.1590G>C (p.Met530Ile)
16g.57661778G>TCA396053429ADGRG1c.1746G>T (p.Met582Ile)
c.1764G>T (p.Met588Ile)
c.1761G>T (p.Met587Ile)
c.*1427G>T (n.*1427G>T)
c.*1409G>T (n.*1409G>T)
c.1254G>T (p.Met418Ile)
c.1239G>T (p.Met413Ile)
c.1221G>T (p.Met407Ile)
c.1779G>T (p.Met593Ile)
c.1743G>T (p.Met581Ile)
c.1590G>T (p.Met530Ile)
16g.57661779C>ACA396053432ADGRG1c.1747C>A (p.Leu583Ile)
c.1765C>A (p.Leu589Ile)
c.1762C>A (p.Leu588Ile)
c.*1428C>A (n.*1428C>A)
c.*1410C>A (n.*1410C>A)
c.1255C>A (p.Leu419Ile)
c.1240C>A (p.Leu414Ile)
c.1222C>A (p.Leu408Ile)
c.1780C>A (p.Leu594Ile)
c.1744C>A (p.Leu582Ile)
c.1591C>A (p.Leu531Ile)
16g.57661779C=CA2224716734ADGRG1c.1747C= (p.Leu583=)
c.1765C= (p.Leu589=)
c.1762C= (p.Leu588=)
c.*1428C= (n.*1428C=)
c.*1410C= (n.*1410C=)
c.1255C= (p.Leu419=)
c.1240C= (p.Leu414=)
c.1222C= (p.Leu408=)
c.1780C= (p.Leu594=)
c.1744C= (p.Leu582=)
c.1591C= (p.Leu531=)
16g.57661779C>GCA8078847ADGRG1c.1747C>G (p.Leu583Val)
c.1765C>G (p.Leu589Val)
c.1762C>G (p.Leu588Val)
c.*1428C>G (n.*1428C>G)
c.*1410C>G (n.*1410C>G)
c.1255C>G (p.Leu419Val)
c.1240C>G (p.Leu414Val)
c.1222C>G (p.Leu408Val)
c.1780C>G (p.Leu594Val)
c.1744C>G (p.Leu582Val)
c.1591C>G (p.Leu531Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.57661779C>TCA495791293ADGRG1c.1747C>T (p.Leu583=)
c.1765C>T (p.Leu589=)
c.1762C>T (p.Leu588=)
c.*1428C>T (n.*1428C>T)
c.*1410C>T (n.*1410C>T)
c.1255C>T (p.Leu419=)
c.1240C>T (p.Leu414=)
c.1222C>T (p.Leu408=)
c.1780C>T (p.Leu594=)
c.1744C>T (p.Leu582=)
c.1591C>T (p.Leu531=)
16g.57661780T>ACA396053438ADGRG1c.1748T>A (p.Leu583Gln)
c.1766T>A (p.Leu589Gln)
c.1763T>A (p.Leu588Gln)
c.*1429T>A (n.*1429T>A)
c.*1411T>A (n.*1411T>A)
c.1256T>A (p.Leu419Gln)
c.1241T>A (p.Leu414Gln)
c.1223T>A (p.Leu408Gln)
c.1781T>A (p.Leu594Gln)
c.1745T>A (p.Leu582Gln)
c.1592T>A (p.Leu531Gln)
16g.57661780T>CCA8078848ADGRG1c.1748T>C (p.Leu583Pro)
c.1766T>C (p.Leu589Pro)
c.1763T>C (p.Leu588Pro)
c.*1429T>C (n.*1429T>C)
c.*1411T>C (n.*1411T>C)
c.1256T>C (p.Leu419Pro)
c.1241T>C (p.Leu414Pro)
c.1223T>C (p.Leu408Pro)
c.1781T>C (p.Leu594Pro)
c.1745T>C (p.Leu582Pro)
c.1592T>C (p.Leu531Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.57661780T>GCA396053442ADGRG1c.1748T>G (p.Leu583Arg)
c.1766T>G (p.Leu589Arg)
c.1763T>G (p.Leu588Arg)
c.*1429T>G (n.*1429T>G)
c.*1411T>G (n.*1411T>G)
c.1256T>G (p.Leu419Arg)
c.1241T>G (p.Leu414Arg)
c.1223T>G (p.Leu408Arg)
c.1781T>G (p.Leu594Arg)
c.1745T>G (p.Leu582Arg)
c.1592T>G (p.Leu531Arg)
16g.57661780T=CA2224716735ADGRG1c.1748T= (p.Leu583=)
c.1766T= (p.Leu589=)
c.1763T= (p.Leu588=)
c.*1429T= (n.*1429T=)
c.*1411T= (n.*1411T=)
c.1256T= (p.Leu419=)
c.1241T= (p.Leu414=)
c.1223T= (p.Leu408=)
c.1781T= (p.Leu594=)
c.1745T= (p.Leu582=)
c.1592T= (p.Leu531=)
16g.57661781A>CCA495791296ADGRG1c.1749A>C (p.Leu583=)
c.1767A>C (p.Leu589=)
c.1764A>C (p.Leu588=)
c.*1430A>C (n.*1430A>C)
c.*1412A>C (n.*1412A>C)
c.1257A>C (p.Leu419=)
c.1242A>C (p.Leu414=)
c.1224A>C (p.Leu408=)
c.1782A>C (p.Leu594=)
c.1746A>C (p.Leu582=)
c.1593A>C (p.Leu531=)
16g.57661781A>GCA495791297ADGRG1c.1749A>G (p.Leu583=)
c.1767A>G (p.Leu589=)
c.1764A>G (p.Leu588=)
c.*1430A>G (n.*1430A>G)
c.*1412A>G (n.*1412A>G)
c.1257A>G (p.Leu419=)
c.1242A>G (p.Leu414=)
c.1224A>G (p.Leu408=)
c.1782A>G (p.Leu594=)
c.1746A>G (p.Leu582=)
c.1593A>G (p.Leu531=)
16g.57661781A>TCA495791298ADGRG1c.1749A>T (p.Leu583=)
c.1767A>T (p.Leu589=)
c.1764A>T (p.Leu588=)
c.*1430A>T (n.*1430A>T)
c.*1412A>T (n.*1412A>T)
c.1257A>T (p.Leu419=)
c.1242A>T (p.Leu414=)
c.1224A>T (p.Leu408=)
c.1782A>T (p.Leu594=)
c.1746A>T (p.Leu582=)
c.1593A>T (p.Leu531=)
 COSMIC
16g.57661782G>ACA396053446ADGRG1c.1750G>A (p.Ala584Thr)
c.1768G>A (p.Ala590Thr)
c.1765G>A (p.Ala589Thr)
c.*1431G>A (n.*1431G>A)
c.*1413G>A (n.*1413G>A)
c.1258G>A (p.Ala420Thr)
c.1243G>A (p.Ala415Thr)
c.1225G>A (p.Ala409Thr)
c.1783G>A (p.Ala595Thr)
c.1747G>A (p.Ala583Thr)
c.1594G>A (p.Ala532Thr)
 gnomAD v4
16g.57661782G>CCA396053450ADGRG1c.1750G>C (p.Ala584Pro)
c.1768G>C (p.Ala590Pro)
c.1765G>C (p.Ala589Pro)
c.*1431G>C (n.*1431G>C)
c.*1413G>C (n.*1413G>C)
c.1258G>C (p.Ala420Pro)
c.1243G>C (p.Ala415Pro)
c.1225G>C (p.Ala409Pro)
c.1783G>C (p.Ala595Pro)
c.1747G>C (p.Ala583Pro)
c.1594G>C (p.Ala532Pro)
16g.57661782G>TCA396053452ADGRG1c.1750G>T (p.Ala584Ser)
c.1768G>T (p.Ala590Ser)
c.1765G>T (p.Ala589Ser)
c.*1431G>T (n.*1431G>T)
c.*1413G>T (n.*1413G>T)
c.1258G>T (p.Ala420Ser)
c.1243G>T (p.Ala415Ser)
c.1225G>T (p.Ala409Ser)
c.1783G>T (p.Ala595Ser)
c.1747G>T (p.Ala583Ser)
c.1594G>T (p.Ala532Ser)
16g.57661783C>ACA281581921ADGRG1c.1751C>A (p.Ala584Asp)
c.1769C>A (p.Ala590Asp)
c.1766C>A (p.Ala589Asp)
c.*1432C>A (n.*1432C>A)
c.*1414C>A (n.*1414C>A)
c.1259C>A (p.Ala420Asp)
c.1244C>A (p.Ala415Asp)
c.1226C>A (p.Ala409Asp)
c.1784C>A (p.Ala595Asp)
c.1748C>A (p.Ala583Asp)
c.1595C>A (p.Ala532Asp)
 dbSNP gnomAD v4
16g.57661783C=CA2224716736ADGRG1c.1751C= (p.Ala584=)
c.1769C= (p.Ala590=)
c.1766C= (p.Ala589=)
c.*1432C= (n.*1432C=)
c.*1414C= (n.*1414C=)
c.1259C= (p.Ala420=)
c.1244C= (p.Ala415=)
c.1226C= (p.Ala409=)
c.1784C= (p.Ala595=)
c.1748C= (p.Ala583=)
c.1595C= (p.Ala532=)
16g.57661783C>GCA396053458ADGRG1c.1751C>G (p.Ala584Gly)
c.1769C>G (p.Ala590Gly)
c.1766C>G (p.Ala589Gly)
c.*1432C>G (n.*1432C>G)
c.*1414C>G (n.*1414C>G)
c.1259C>G (p.Ala420Gly)
c.1244C>G (p.Ala415Gly)
c.1226C>G (p.Ala409Gly)
c.1784C>G (p.Ala595Gly)
c.1748C>G (p.Ala583Gly)
c.1595C>G (p.Ala532Gly)
16g.57661783C>TCA396053455ADGRG1c.1751C>T (p.Ala584Val)
c.1769C>T (p.Ala590Val)
c.1766C>T (p.Ala589Val)
c.*1432C>T (n.*1432C>T)
c.*1414C>T (n.*1414C>T)
c.1259C>T (p.Ala420Val)
c.1244C>T (p.Ala415Val)
c.1226C>T (p.Ala409Val)
c.1784C>T (p.Ala595Val)
c.1748C>T (p.Ala583Val)
c.1595C>T (p.Ala532Val)
16g.57661784C>ACA495791301ADGRG1c.1752C>A (p.Ala584=)
c.1770C>A (p.Ala590=)
c.1767C>A (p.Ala589=)
c.*1433C>A (n.*1433C>A)
c.*1415C>A (n.*1415C>A)
c.1260C>A (p.Ala420=)
c.1245C>A (p.Ala415=)
c.1227C>A (p.Ala409=)
c.1785C>A (p.Ala595=)
c.1749C>A (p.Ala583=)
c.1596C>A (p.Ala532=)
16g.57661784C>GCA495791303ADGRG1c.1752C>G (p.Ala584=)
c.1770C>G (p.Ala590=)
c.1767C>G (p.Ala589=)
c.*1433C>G (n.*1433C>G)
c.*1415C>G (n.*1415C>G)
c.1260C>G (p.Ala420=)
c.1245C>G (p.Ala415=)
c.1227C>G (p.Ala409=)
c.1785C>G (p.Ala595=)
c.1749C>G (p.Ala583=)
c.1596C>G (p.Ala532=)
16g.57661784C>TCA495791304ADGRG1c.1752C>T (p.Ala584=)
c.1770C>T (p.Ala590=)
c.1767C>T (p.Ala589=)
c.*1433C>T (n.*1433C>T)
c.*1415C>T (n.*1415C>T)
c.1260C>T (p.Ala420=)
c.1245C>T (p.Ala415=)
c.1227C>T (p.Ala409=)
c.1785C>T (p.Ala595=)
c.1749C>T (p.Ala583=)
c.1596C>T (p.Ala532=)
 ClinVar gnomAD v4
16g.57661785A>CCA396053462ADGRG1c.1753A>C (p.Thr585Pro)
c.1771A>C (p.Thr591Pro)
c.1768A>C (p.Thr590Pro)
c.*1434A>C (n.*1434A>C)
c.*1416A>C (n.*1416A>C)
c.1261A>C (p.Thr421Pro)
c.1246A>C (p.Thr416Pro)
c.1228A>C (p.Thr410Pro)
c.1786A>C (p.Thr596Pro)
c.1750A>C (p.Thr584Pro)
c.1597A>C (p.Thr533Pro)
16g.57661785A>GCA396053465ADGRG1c.1753A>G (p.Thr585Ala)
c.1771A>G (p.Thr591Ala)
c.1768A>G (p.Thr590Ala)
c.*1434A>G (n.*1434A>G)
c.*1416A>G (n.*1416A>G)
c.1261A>G (p.Thr421Ala)
c.1246A>G (p.Thr416Ala)
c.1228A>G (p.Thr410Ala)
c.1786A>G (p.Thr596Ala)
c.1750A>G (p.Thr584Ala)
c.1597A>G (p.Thr533Ala)
16g.57661785A>TCA396053467ADGRG1c.1753A>T (p.Thr585Ser)
c.1771A>T (p.Thr591Ser)
c.1768A>T (p.Thr590Ser)
c.*1434A>T (n.*1434A>T)
c.*1416A>T (n.*1416A>T)
c.1261A>T (p.Thr421Ser)
c.1246A>T (p.Thr416Ser)
c.1228A>T (p.Thr410Ser)
c.1786A>T (p.Thr596Ser)
c.1750A>T (p.Thr584Ser)
c.1597A>T (p.Thr533Ser)
 COSMIC
16g.57661786C>ACA396053470ADGRG1c.1754C>A (p.Thr585Asn)
c.1772C>A (p.Thr591Asn)
c.1769C>A (p.Thr590Asn)
c.*1435C>A (n.*1435C>A)
c.*1417C>A (n.*1417C>A)
c.1262C>A (p.Thr421Asn)
c.1247C>A (p.Thr416Asn)
c.1229C>A (p.Thr410Asn)
c.1787C>A (p.Thr596Asn)
c.1751C>A (p.Thr584Asn)
c.1598C>A (p.Thr533Asn)
16g.57661786C>GCA396053472ADGRG1c.1754C>G (p.Thr585Ser)
c.1772C>G (p.Thr591Ser)
c.1769C>G (p.Thr590Ser)
c.*1435C>G (n.*1435C>G)
c.*1417C>G (n.*1417C>G)
c.1262C>G (p.Thr421Ser)
c.1247C>G (p.Thr416Ser)
c.1229C>G (p.Thr410Ser)
c.1787C>G (p.Thr596Ser)
c.1751C>G (p.Thr584Ser)
c.1598C>G (p.Thr533Ser)
16g.57661786C>TCA396053477ADGRG1c.1754C>T (p.Thr585Ile)
c.1772C>T (p.Thr591Ile)
c.1769C>T (p.Thr590Ile)
c.*1435C>T (n.*1435C>T)
c.*1417C>T (n.*1417C>T)
c.1262C>T (p.Thr421Ile)
c.1247C>T (p.Thr416Ile)
c.1229C>T (p.Thr410Ile)
c.1787C>T (p.Thr596Ile)
c.1751C>T (p.Thr584Ile)
c.1598C>T (p.Thr533Ile)
 gnomAD v4
16g.57661787C>ACA495791308ADGRG1c.1755C>A (p.Thr585=)
c.1773C>A (p.Thr591=)
c.1770C>A (p.Thr590=)
c.*1436C>A (n.*1436C>A)
c.*1418C>A (n.*1418C>A)
c.1263C>A (p.Thr421=)
c.1248C>A (p.Thr416=)
c.1230C>A (p.Thr410=)
c.1788C>A (p.Thr596=)
c.1752C>A (p.Thr584=)
c.1599C>A (p.Thr533=)
16g.57661787C>GCA495791312ADGRG1c.1755C>G (p.Thr585=)
c.1773C>G (p.Thr591=)
c.1770C>G (p.Thr590=)
c.*1436C>G (n.*1436C>G)
c.*1418C>G (n.*1418C>G)
c.1263C>G (p.Thr421=)
c.1248C>G (p.Thr416=)
c.1230C>G (p.Thr410=)
c.1788C>G (p.Thr596=)
c.1752C>G (p.Thr584=)
c.1599C>G (p.Thr533=)
16g.57661787C>TCA495791311ADGRG1c.1755C>T (p.Thr585=)
c.1773C>T (p.Thr591=)
c.1770C>T (p.Thr590=)
c.*1436C>T (n.*1436C>T)
c.*1418C>T (n.*1418C>T)
c.1263C>T (p.Thr421=)
c.1248C>T (p.Thr416=)
c.1230C>T (p.Thr410=)
c.1788C>T (p.Thr596=)
c.1752C>T (p.Thr584=)
c.1599C>T (p.Thr533=)
 ClinVar dbSNP gnomAD v4
16g.57661788A=CA2224716737ADGRG1c.1756A= (p.Met586=)
c.1774A= (p.Met592=)
c.1771A= (p.Met591=)
c.*1437A= (n.*1437A=)
c.*1419A= (n.*1419A=)
c.1264A= (p.Met422=)
c.1249A= (p.Met417=)
c.1231A= (p.Met411=)
c.1789A= (p.Met597=)
c.1753A= (p.Met585=)
c.1600A= (p.Met534=)
16g.57661788A>CCA396053479ADGRG1c.1756A>C (p.Met586Leu)
c.1774A>C (p.Met592Leu)
c.1771A>C (p.Met591Leu)
c.*1437A>C (n.*1437A>C)
c.*1419A>C (n.*1419A>C)
c.1264A>C (p.Met422Leu)
c.1249A>C (p.Met417Leu)
c.1231A>C (p.Met411Leu)
c.1789A>C (p.Met597Leu)
c.1753A>C (p.Met585Leu)
c.1600A>C (p.Met534Leu)
16g.57661788A>GCA396053482ADGRG1c.1756A>G (p.Met586Val)
c.1774A>G (p.Met592Val)
c.1771A>G (p.Met591Val)
c.*1437A>G (n.*1437A>G)
c.*1419A>G (n.*1419A>G)
c.1264A>G (p.Met422Val)
c.1249A>G (p.Met417Val)
c.1231A>G (p.Met411Val)
c.1789A>G (p.Met597Val)
c.1753A>G (p.Met585Val)
c.1600A>G (p.Met534Val)
 dbSNP
16g.57661788A>TCA396053484ADGRG1c.1756A>T (p.Met586Leu)
c.1774A>T (p.Met592Leu)
c.1771A>T (p.Met591Leu)
c.*1437A>T (n.*1437A>T)
c.*1419A>T (n.*1419A>T)
c.1264A>T (p.Met422Leu)
c.1249A>T (p.Met417Leu)
c.1231A>T (p.Met411Leu)
c.1789A>T (p.Met597Leu)
c.1753A>T (p.Met585Leu)
c.1600A>T (p.Met534Leu)
16g.57661789T>ACA396053488ADGRG1c.1757T>A (p.Met586Lys)
c.1775T>A (p.Met592Lys)
c.1772T>A (p.Met591Lys)
c.*1438T>A (n.*1438T>A)
c.*1420T>A (n.*1420T>A)
c.1265T>A (p.Met422Lys)
c.1250T>A (p.Met417Lys)
c.1232T>A (p.Met411Lys)
c.1790T>A (p.Met597Lys)
c.1754T>A (p.Met585Lys)
c.1601T>A (p.Met534Lys)
16g.57661789T>CCA396053490ADGRG1c.1757T>C (p.Met586Thr)
c.1775T>C (p.Met592Thr)
c.1772T>C (p.Met591Thr)
c.*1438T>C (n.*1438T>C)
c.*1420T>C (n.*1420T>C)
c.1265T>C (p.Met422Thr)
c.1250T>C (p.Met417Thr)
c.1232T>C (p.Met411Thr)
c.1790T>C (p.Met597Thr)
c.1754T>C (p.Met585Thr)
c.1601T>C (p.Met534Thr)
 gnomAD v4
16g.57661789T>GCA396053493ADGRG1c.1757T>G (p.Met586Arg)
c.1775T>G (p.Met592Arg)
c.1772T>G (p.Met591Arg)
c.*1438T>G (n.*1438T>G)
c.*1420T>G (n.*1420T>G)
c.1265T>G (p.Met422Arg)
c.1250T>G (p.Met417Arg)
c.1232T>G (p.Met411Arg)
c.1790T>G (p.Met597Arg)
c.1754T>G (p.Met585Arg)
c.1601T>G (p.Met534Arg)
16g.57661790G>ACA8078849ADGRG1c.1758G>A (p.Met586Ile)
c.1776G>A (p.Met592Ile)
c.1773G>A (p.Met591Ile)
c.*1439G>A (n.*1439G>A)
c.*1421G>A (n.*1421G>A)
c.1266G>A (p.Met422Ile)
c.1251G>A (p.Met417Ile)
c.1233G>A (p.Met411Ile)
c.1791G>A (p.Met597Ile)
c.1755G>A (p.Met585Ile)
c.1602G>A (p.Met534Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.57661790G>CCA396053500ADGRG1c.1758G>C (p.Met586Ile)
c.1776G>C (p.Met592Ile)
c.1773G>C (p.Met591Ile)
c.*1439G>C (n.*1439G>C)
c.*1421G>C (n.*1421G>C)
c.1266G>C (p.Met422Ile)
c.1251G>C (p.Met417Ile)
c.1233G>C (p.Met411Ile)
c.1791G>C (p.Met597Ile)
c.1755G>C (p.Met585Ile)
c.1602G>C (p.Met534Ile)
16g.57661790G=CA2224716738ADGRG1c.1758G= (p.Met586=)
c.1776G= (p.Met592=)
c.1773G= (p.Met591=)
c.*1439G= (n.*1439G=)
c.*1421G= (n.*1421G=)
c.1266G= (p.Met422=)
c.1251G= (p.Met417=)
c.1233G= (p.Met411=)
c.1791G= (p.Met597=)
c.1755G= (p.Met585=)
c.1602G= (p.Met534=)
16g.57661790G>TCA396053497ADGRG1c.1758G>T (p.Met586Ile)
c.1776G>T (p.Met592Ile)
c.1773G>T (p.Met591Ile)
c.*1439G>T (n.*1439G>T)
c.*1421G>T (n.*1421G>T)
c.1266G>T (p.Met422Ile)
c.1251G>T (p.Met417Ile)
c.1233G>T (p.Met411Ile)
c.1791G>T (p.Met597Ile)
c.1755G>T (p.Met585Ile)
c.1602G>T (p.Met534Ile)
16g.57661791G>ACA396053503ADGRG1c.1759G>A (p.Val587Met)
c.1777G>A (p.Val593Met)
c.1774G>A (p.Val592Met)
c.*1440G>A (n.*1440G>A)
c.*1422G>A (n.*1422G>A)
c.1267G>A (p.Val423Met)
c.1252G>A (p.Val418Met)
c.1234G>A (p.Val412Met)
c.1792G>A (p.Val598Met)
c.1756G>A (p.Val586Met)
c.1603G>A (p.Val535Met)
16g.57661791G>CCA396053505ADGRG1c.1759G>C (p.Val587Leu)
c.1777G>C (p.Val593Leu)
c.1774G>C (p.Val592Leu)
c.*1440G>C (n.*1440G>C)
c.*1422G>C (n.*1422G>C)
c.1267G>C (p.Val423Leu)
c.1252G>C (p.Val418Leu)
c.1234G>C (p.Val412Leu)
c.1792G>C (p.Val598Leu)
c.1756G>C (p.Val586Leu)
c.1603G>C (p.Val535Leu)
16g.57661791G>TCA396053508ADGRG1c.1759G>T (p.Val587Leu)
c.1777G>T (p.Val593Leu)
c.1774G>T (p.Val592Leu)
c.*1440G>T (n.*1440G>T)
c.*1422G>T (n.*1422G>T)
c.1267G>T (p.Val423Leu)
c.1252G>T (p.Val418Leu)
c.1234G>T (p.Val412Leu)
c.1792G>T (p.Val598Leu)
c.1756G>T (p.Val586Leu)
c.1603G>T (p.Val535Leu)
 gnomAD v4
16g.57661792T>ACA396053511ADGRG1c.1760T>A (p.Val587Glu)
c.1778T>A (p.Val593Glu)
c.1775T>A (p.Val592Glu)
c.*1441T>A (n.*1441T>A)
c.*1423T>A (n.*1423T>A)
c.1268T>A (p.Val423Glu)
c.1253T>A (p.Val418Glu)
c.1235T>A (p.Val412Glu)
c.1793T>A (p.Val598Glu)
c.1757T>A (p.Val586Glu)
c.1604T>A (p.Val535Glu)
16g.57661792T>CCA396053512ADGRG1c.1760T>C (p.Val587Ala)
c.1778T>C (p.Val593Ala)
c.1775T>C (p.Val592Ala)
c.*1441T>C (n.*1441T>C)
c.*1423T>C (n.*1423T>C)
c.1268T>C (p.Val423Ala)
c.1253T>C (p.Val418Ala)
c.1235T>C (p.Val412Ala)
c.1793T>C (p.Val598Ala)
c.1757T>C (p.Val586Ala)
c.1604T>C (p.Val535Ala)
 gnomAD v4
16g.57661792T>GCA396053514ADGRG1c.1760T>G (p.Val587Gly)
c.1778T>G (p.Val593Gly)
c.1775T>G (p.Val592Gly)
c.*1441T>G (n.*1441T>G)
c.*1423T>G (n.*1423T>G)
c.1268T>G (p.Val423Gly)
c.1253T>G (p.Val418Gly)
c.1235T>G (p.Val412Gly)
c.1793T>G (p.Val598Gly)
c.1757T>G (p.Val586Gly)
c.1604T>G (p.Val535Gly)
16g.57661793G>ACA495791321ADGRG1c.1761G>A (p.Val587=)
c.1779G>A (p.Val593=)
c.1776G>A (p.Val592=)
c.*1442G>A (n.*1442G>A)
c.*1424G>A (n.*1424G>A)
c.1269G>A (p.Val423=)
c.1254G>A (p.Val418=)
c.1236G>A (p.Val412=)
c.1794G>A (p.Val598=)
c.1758G>A (p.Val586=)
c.1605G>A (p.Val535=)
16g.57661793G>CCA495791322ADGRG1c.1761G>C (p.Val587=)
c.1779G>C (p.Val593=)
c.1776G>C (p.Val592=)
c.*1442G>C (n.*1442G>C)
c.*1424G>C (n.*1424G>C)
c.1269G>C (p.Val423=)
c.1254G>C (p.Val418=)
c.1236G>C (p.Val412=)
c.1794G>C (p.Val598=)
c.1758G>C (p.Val586=)
c.1605G>C (p.Val535=)
16g.57661793G>TCA495791323ADGRG1c.1761G>T (p.Val587=)
c.1779G>T (p.Val593=)
c.1776G>T (p.Val592=)
c.*1442G>T (n.*1442G>T)
c.*1424G>T (n.*1424G>T)
c.1269G>T (p.Val423=)
c.1254G>T (p.Val418=)
c.1236G>T (p.Val412=)
c.1794G>T (p.Val598=)
c.1758G>T (p.Val586=)
c.1605G>T (p.Val535=)
16g.57661794G>ACA396053517ADGRG1c.1762G>A (p.Val588Met)
c.1780G>A (p.Val594Met)
c.1777G>A (p.Val593Met)
c.*1443G>A (n.*1443G>A)
c.*1425G>A (n.*1425G>A)
c.1270G>A (p.Val424Met)
c.1255G>A (p.Val419Met)
c.1237G>A (p.Val413Met)
c.1795G>A (p.Val599Met)
c.1759G>A (p.Val587Met)
c.1606G>A (p.Val536Met)
16g.57661794G>CCA396053519ADGRG1c.1762G>C (p.Val588Leu)
c.1780G>C (p.Val594Leu)
c.1777G>C (p.Val593Leu)
c.*1443G>C (n.*1443G>C)
c.*1425G>C (n.*1425G>C)
c.1270G>C (p.Val424Leu)
c.1255G>C (p.Val419Leu)
c.1237G>C (p.Val413Leu)
c.1795G>C (p.Val599Leu)
c.1759G>C (p.Val587Leu)
c.1606G>C (p.Val536Leu)
16g.57661794G>TCA396053522ADGRG1c.1762G>T (p.Val588Leu)
c.1780G>T (p.Val594Leu)
c.1777G>T (p.Val593Leu)
c.*1443G>T (n.*1443G>T)
c.*1425G>T (n.*1425G>T)
c.1270G>T (p.Val424Leu)
c.1255G>T (p.Val419Leu)
c.1237G>T (p.Val413Leu)
c.1795G>T (p.Val599Leu)
c.1759G>T (p.Val587Leu)
c.1606G>T (p.Val536Leu)
16g.57661795T>ACA396053525ADGRG1c.1763T>A (p.Val588Glu)
c.1781T>A (p.Val594Glu)
c.1778T>A (p.Val593Glu)
c.*1444T>A (n.*1444T>A)
c.*1426T>A (n.*1426T>A)
c.1271T>A (p.Val424Glu)
c.1256T>A (p.Val419Glu)
c.1238T>A (p.Val413Glu)
c.1796T>A (p.Val599Glu)
c.1760T>A (p.Val587Glu)
c.1607T>A (p.Val536Glu)
16g.57661795T>CCA8078850ADGRG1c.1763T>C (p.Val588Ala)
c.1781T>C (p.Val594Ala)
c.1778T>C (p.Val593Ala)
c.*1444T>C (n.*1444T>C)
c.*1426T>C (n.*1426T>C)
c.1271T>C (p.Val424Ala)
c.1256T>C (p.Val419Ala)
c.1238T>C (p.Val413Ala)
c.1796T>C (p.Val599Ala)
c.1760T>C (p.Val587Ala)
c.1607T>C (p.Val536Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.57661795T>GCA396053529ADGRG1c.1763T>G (p.Val588Gly)
c.1781T>G (p.Val594Gly)
c.1778T>G (p.Val593Gly)
c.*1444T>G (n.*1444T>G)
c.*1426T>G (n.*1426T>G)
c.1271T>G (p.Val424Gly)
c.1256T>G (p.Val419Gly)
c.1238T>G (p.Val413Gly)
c.1796T>G (p.Val599Gly)
c.1760T>G (p.Val587Gly)
c.1607T>G (p.Val536Gly)
16g.57661795T=CA2224716739ADGRG1c.1763T= (p.Val588=)
c.1781T= (p.Val594=)
c.1778T= (p.Val593=)
c.*1444T= (n.*1444T=)
c.*1426T= (n.*1426T=)
c.1271T= (p.Val424=)
c.1256T= (p.Val419=)
c.1238T= (p.Val413=)
c.1796T= (p.Val599=)
c.1760T= (p.Val587=)
c.1607T= (p.Val536=)
16g.57661796G>ACA495791329ADGRG1c.1764G>A (p.Val588=)
c.1782G>A (p.Val594=)
c.1779G>A (p.Val593=)
c.*1445G>A (n.*1445G>A)
c.*1427G>A (n.*1427G>A)
c.1272G>A (p.Val424=)
c.1257G>A (p.Val419=)
c.1239G>A (p.Val413=)
c.1797G>A (p.Val599=)
c.1761G>A (p.Val587=)
c.1608G>A (p.Val536=)
 dbSNP gnomAD v2
16g.57661796G>CCA495791330ADGRG1c.1764G>C (p.Val588=)
c.1782G>C (p.Val594=)
c.1779G>C (p.Val593=)
c.*1445G>C (n.*1445G>C)
c.*1427G>C (n.*1427G>C)
c.1272G>C (p.Val424=)
c.1257G>C (p.Val419=)
c.1239G>C (p.Val413=)
c.1797G>C (p.Val599=)
c.1761G>C (p.Val587=)
c.1608G>C (p.Val536=)
16g.57661796G=CA2224716740ADGRG1c.1764G= (p.Val588=)
c.1782G= (p.Val594=)
c.1779G= (p.Val593=)
c.*1445G= (n.*1445G=)
c.*1427G= (n.*1427G=)
c.1272G= (p.Val424=)
c.1257G= (p.Val419=)
c.1239G= (p.Val413=)
c.1797G= (p.Val599=)
c.1761G= (p.Val587=)
c.1608G= (p.Val536=)
16g.57661796G>TCA495791331ADGRG1c.1764G>T (p.Val588=)
c.1782G>T (p.Val594=)
c.1779G>T (p.Val593=)
c.*1445G>T (n.*1445G>T)
c.*1427G>T (n.*1427G>T)
c.1272G>T (p.Val424=)
c.1257G>T (p.Val419=)
c.1239G>T (p.Val413=)
c.1797G>T (p.Val599=)
c.1761G>T (p.Val587=)
c.1608G>T (p.Val536=)
16g.57661797C>ACA396053534ADGRG1c.1765C>A (p.Gln589Lys)
c.1783C>A (p.Gln595Lys)
c.1780C>A (p.Gln594Lys)
c.*1446C>A (n.*1446C>A)
c.*1428C>A (n.*1428C>A)
c.1273C>A (p.Gln425Lys)
c.1258C>A (p.Gln420Lys)
c.1240C>A (p.Gln414Lys)
c.1798C>A (p.Gln600Lys)
c.1762C>A (p.Gln588Lys)
c.1609C>A (p.Gln537Lys)
16g.57661797C>GCA396053538ADGRG1c.1765C>G (p.Gln589Glu)
c.1783C>G (p.Gln595Glu)
c.1780C>G (p.Gln594Glu)
c.*1446C>G (n.*1446C>G)
c.*1428C>G (n.*1428C>G)
c.1273C>G (p.Gln425Glu)
c.1258C>G (p.Gln420Glu)
c.1240C>G (p.Gln414Glu)
c.1798C>G (p.Gln600Glu)
c.1762C>G (p.Gln588Glu)
c.1609C>G (p.Gln537Glu)
16g.57661797C>TCA396053532ADGRG1c.1765C>T (p.Gln589Ter)
c.1783C>T (p.Gln595Ter)
c.1780C>T (p.Gln594Ter)
c.*1446C>T (n.*1446C>T)
c.*1428C>T (n.*1428C>T)
c.1273C>T (p.Gln425Ter)
c.1258C>T (p.Gln420Ter)
c.1240C>T (p.Gln414Ter)
c.1798C>T (p.Gln600Ter)
c.1762C>T (p.Gln588Ter)
c.1609C>T (p.Gln537Ter)
16g.57661798A>CCA396053542ADGRG1c.1766A>C (p.Gln589Pro)
c.1784A>C (p.Gln595Pro)
c.1781A>C (p.Gln594Pro)
c.*1447A>C (n.*1447A>C)
c.*1429A>C (n.*1429A>C)
c.1274A>C (p.Gln425Pro)
c.1259A>C (p.Gln420Pro)
c.1241A>C (p.Gln414Pro)
c.1799A>C (p.Gln600Pro)
c.1763A>C (p.Gln588Pro)
c.1610A>C (p.Gln537Pro)
16g.57661798A>GCA396053543ADGRG1c.1766A>G (p.Gln589Arg)
c.1784A>G (p.Gln595Arg)
c.1781A>G (p.Gln594Arg)
c.*1447A>G (n.*1447A>G)
c.*1429A>G (n.*1429A>G)
c.1274A>G (p.Gln425Arg)
c.1259A>G (p.Gln420Arg)
c.1241A>G (p.Gln414Arg)
c.1799A>G (p.Gln600Arg)
c.1763A>G (p.Gln588Arg)
c.1610A>G (p.Gln537Arg)
16g.57661798A>TCA396053544ADGRG1c.1766A>T (p.Gln589Leu)
c.1784A>T (p.Gln595Leu)
c.1781A>T (p.Gln594Leu)
c.*1447A>T (n.*1447A>T)
c.*1429A>T (n.*1429A>T)
c.1274A>T (p.Gln425Leu)
c.1259A>T (p.Gln420Leu)
c.1241A>T (p.Gln414Leu)
c.1799A>T (p.Gln600Leu)
c.1763A>T (p.Gln588Leu)
c.1610A>T (p.Gln537Leu)
16g.57661799G>ACA495791333ADGRG1c.1767G>A (p.Gln589=)
c.1785G>A (p.Gln595=)
c.1782G>A (p.Gln594=)
c.*1448G>A (n.*1448G>A)
c.*1430G>A (n.*1430G>A)
c.1275G>A (p.Gln425=)
c.1260G>A (p.Gln420=)
c.1242G>A (p.Gln414=)
c.1800G>A (p.Gln600=)
c.1764G>A (p.Gln588=)
c.1611G>A (p.Gln537=)
16g.57661799G>CCA396053545ADGRG1c.1767G>C (p.Gln589His)
c.1785G>C (p.Gln595His)
c.1782G>C (p.Gln594His)
c.*1448G>C (n.*1448G>C)
c.*1430G>C (n.*1430G>C)
c.1275G>C (p.Gln425His)
c.1260G>C (p.Gln420His)
c.1242G>C (p.Gln414His)
c.1800G>C (p.Gln600His)
c.1764G>C (p.Gln588His)
c.1611G>C (p.Gln537His)
16g.57661799G>TCA396053547ADGRG1c.1767G>T (p.Gln589His)
c.1785G>T (p.Gln595His)
c.1782G>T (p.Gln594His)
c.*1448G>T (n.*1448G>T)
c.*1430G>T (n.*1430G>T)
c.1275G>T (p.Gln425His)
c.1260G>T (p.Gln420His)
c.1242G>T (p.Gln414His)
c.1800G>T (p.Gln600His)
c.1764G>T (p.Gln588His)
c.1611G>T (p.Gln537His)
16g.57661800A>CCA396053552ADGRG1c.1768A>C (p.Ile590Leu)
c.1786A>C (p.Ile596Leu)
c.1783A>C (p.Ile595Leu)
c.*1449A>C (n.*1449A>C)
c.*1431A>C (n.*1431A>C)
c.1276A>C (p.Ile426Leu)
c.1261A>C (p.Ile421Leu)
c.1243A>C (p.Ile415Leu)
c.1801A>C (p.Ile601Leu)
c.1765A>C (p.Ile589Leu)
c.1612A>C (p.Ile538Leu)
16g.57661800A>GCA396053549ADGRG1c.1768A>G (p.Ile590Val)
c.1786A>G (p.Ile596Val)
c.1783A>G (p.Ile595Val)
c.*1449A>G (n.*1449A>G)
c.*1431A>G (n.*1431A>G)
c.1276A>G (p.Ile426Val)
c.1261A>G (p.Ile421Val)
c.1243A>G (p.Ile415Val)
c.1801A>G (p.Ile601Val)
c.1765A>G (p.Ile589Val)
c.1612A>G (p.Ile538Val)
16g.57661800A>TCA396053550ADGRG1c.1768A>T (p.Ile590Phe)
c.1786A>T (p.Ile596Phe)
c.1783A>T (p.Ile595Phe)
c.*1449A>T (n.*1449A>T)
c.*1431A>T (n.*1431A>T)
c.1276A>T (p.Ile426Phe)
c.1261A>T (p.Ile421Phe)
c.1243A>T (p.Ile415Phe)
c.1801A>T (p.Ile601Phe)
c.1765A>T (p.Ile589Phe)
c.1612A>T (p.Ile538Phe)
16g.57661801T>ACA8078851ADGRG1c.1769T>A (p.Ile590Asn)
c.1787T>A (p.Ile596Asn)
c.1784T>A (p.Ile595Asn)
c.*1450T>A (n.*1450T>A)
c.*1432T>A (n.*1432T>A)
c.1277T>A (p.Ile426Asn)
c.1262T>A (p.Ile421Asn)
c.1244T>A (p.Ile415Asn)
c.1802T>A (p.Ile601Asn)
c.1766T>A (p.Ile589Asn)
c.1613T>A (p.Ile538Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.57661801T>CCA396053554ADGRG1c.1769T>C (p.Ile590Thr)
c.1787T>C (p.Ile596Thr)
c.1784T>C (p.Ile595Thr)
c.*1450T>C (n.*1450T>C)
c.*1432T>C (n.*1432T>C)
c.1277T>C (p.Ile426Thr)
c.1262T>C (p.Ile421Thr)
c.1244T>C (p.Ile415Thr)
c.1802T>C (p.Ile601Thr)
c.1766T>C (p.Ile589Thr)
c.1613T>C (p.Ile538Thr)
16g.57661801T>GCA396053556ADGRG1c.1769T>G (p.Ile590Ser)
c.1787T>G (p.Ile596Ser)
c.1784T>G (p.Ile595Ser)
c.*1450T>G (n.*1450T>G)
c.*1432T>G (n.*1432T>G)
c.1277T>G (p.Ile426Ser)
c.1262T>G (p.Ile421Ser)
c.1244T>G (p.Ile415Ser)
c.1802T>G (p.Ile601Ser)
c.1766T>G (p.Ile589Ser)
c.1613T>G (p.Ile538Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.57661801T=CA2224716741ADGRG1c.1769T= (p.Ile590=)
c.1787T= (p.Ile596=)
c.1784T= (p.Ile595=)
c.*1450T= (n.*1450T=)
c.*1432T= (n.*1432T=)
c.1277T= (p.Ile426=)
c.1262T= (p.Ile421=)
c.1244T= (p.Ile415=)
c.1802T= (p.Ile601=)
c.1766T= (p.Ile589=)
c.1613T= (p.Ile538=)
16g.57661802C>ACA495791336ADGRG1c.1770C>A (p.Ile590=)
c.1788C>A (p.Ile596=)
c.1785C>A (p.Ile595=)
c.*1451C>A (n.*1451C>A)
c.*1433C>A (n.*1433C>A)
c.1278C>A (p.Ile426=)
c.1263C>A (p.Ile421=)
c.1245C>A (p.Ile415=)
c.1803C>A (p.Ile601=)
c.1767C>A (p.Ile589=)
c.1614C>A (p.Ile538=)
 gnomAD v4
16g.57661802C>GCA396053557ADGRG1c.1770C>G (p.Ile590Met)
c.1788C>G (p.Ile596Met)
c.1785C>G (p.Ile595Met)
c.*1451C>G (n.*1451C>G)
c.*1433C>G (n.*1433C>G)
c.1278C>G (p.Ile426Met)
c.1263C>G (p.Ile421Met)
c.1245C>G (p.Ile415Met)
c.1803C>G (p.Ile601Met)
c.1767C>G (p.Ile589Met)
c.1614C>G (p.Ile538Met)
16g.57661802C>TCA495791337ADGRG1c.1770C>T (p.Ile590=)
c.1788C>T (p.Ile596=)
c.1785C>T (p.Ile595=)
c.*1451C>T (n.*1451C>T)
c.*1433C>T (n.*1433C>T)
c.1278C>T (p.Ile426=)
c.1263C>T (p.Ile421=)
c.1245C>T (p.Ile415=)
c.1803C>T (p.Ile601=)
c.1767C>T (p.Ile589=)
c.1614C>T (p.Ile538=)
 gnomAD v4 COSMIC
16g.57661803C>ACA396053558ADGRG1c.1771C>A (p.Leu591Met)
c.1789C>A (p.Leu597Met)
c.1786C>A (p.Leu596Met)
c.*1452C>A (n.*1452C>A)
c.*1434C>A (n.*1434C>A)
c.1279C>A (p.Leu427Met)
c.1264C>A (p.Leu422Met)
c.1246C>A (p.Leu416Met)
c.1804C>A (p.Leu602Met)
c.1768C>A (p.Leu590Met)
c.1615C>A (p.Leu539Met)
16g.57661803C=CA2224716742ADGRG1c.1771C= (p.Leu591=)
c.1789C= (p.Leu597=)
c.1786C= (p.Leu596=)
c.*1452C= (n.*1452C=)
c.*1434C= (n.*1434C=)
c.1279C= (p.Leu427=)
c.1264C= (p.Leu422=)
c.1246C= (p.Leu416=)
c.1804C= (p.Leu602=)
c.1768C= (p.Leu590=)
c.1615C= (p.Leu539=)
16g.57661803C>GCA396053559ADGRG1c.1771C>G (p.Leu591Val)
c.1789C>G (p.Leu597Val)
c.1786C>G (p.Leu596Val)
c.*1452C>G (n.*1452C>G)
c.*1434C>G (n.*1434C>G)
c.1279C>G (p.Leu427Val)
c.1264C>G (p.Leu422Val)
c.1246C>G (p.Leu416Val)
c.1804C>G (p.Leu602Val)
c.1768C>G (p.Leu590Val)
c.1615C>G (p.Leu539Val)
16g.57661803C>TCA495791341ADGRG1c.1771C>T (p.Leu591=)
c.1789C>T (p.Leu597=)
c.1786C>T (p.Leu596=)
c.*1452C>T (n.*1452C>T)
c.*1434C>T (n.*1434C>T)
c.1279C>T (p.Leu427=)
c.1264C>T (p.Leu422=)
c.1246C>T (p.Leu416=)
c.1804C>T (p.Leu602=)
c.1768C>T (p.Leu590=)
c.1615C>T (p.Leu539=)
 dbSNP gnomAD v2
16g.57661804T>ACA396053561ADGRG1c.1772T>A (p.Leu591Gln)
c.1790T>A (p.Leu597Gln)
c.1787T>A (p.Leu596Gln)
c.*1453T>A (n.*1453T>A)
c.*1435T>A (n.*1435T>A)
c.1280T>A (p.Leu427Gln)
c.1265T>A (p.Leu422Gln)
c.1247T>A (p.Leu416Gln)
c.1805T>A (p.Leu602Gln)
c.1769T>A (p.Leu590Gln)
c.1616T>A (p.Leu539Gln)
16g.57661804T>CCA396053563ADGRG1c.1772T>C (p.Leu591Pro)
c.1790T>C (p.Leu597Pro)
c.1787T>C (p.Leu596Pro)
c.*1453T>C (n.*1453T>C)
c.*1435T>C (n.*1435T>C)
c.1280T>C (p.Leu427Pro)
c.1265T>C (p.Leu422Pro)
c.1247T>C (p.Leu416Pro)
c.1805T>C (p.Leu602Pro)
c.1769T>C (p.Leu590Pro)
c.1616T>C (p.Leu539Pro)
 gnomAD v4
16g.57661804T>GCA396053560ADGRG1c.1772T>G (p.Leu591Arg)
c.1790T>G (p.Leu597Arg)
c.1787T>G (p.Leu596Arg)
c.*1453T>G (n.*1453T>G)
c.*1435T>G (n.*1435T>G)
c.1280T>G (p.Leu427Arg)
c.1265T>G (p.Leu422Arg)
c.1247T>G (p.Leu416Arg)
c.1805T>G (p.Leu602Arg)
c.1769T>G (p.Leu590Arg)
c.1616T>G (p.Leu539Arg)
16g.57661805G>ACA8078852ADGRG1c.1773G>A (p.Leu591=)
c.1791G>A (p.Leu597=)
c.1788G>A (p.Leu596=)
c.*1454G>A (n.*1454G>A)
c.*1436G>A (n.*1436G>A)
c.1281G>A (p.Leu427=)
c.1266G>A (p.Leu422=)
c.1248G>A (p.Leu416=)
c.1806G>A (p.Leu602=)
c.1770G>A (p.Leu590=)
c.1617G>A (p.Leu539=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.57661805G>CCA495791342ADGRG1c.1773G>C (p.Leu591=)
c.1791G>C (p.Leu597=)
c.1788G>C (p.Leu596=)
c.*1454G>C (n.*1454G>C)
c.*1436G>C (n.*1436G>C)
c.1281G>C (p.Leu427=)
c.1266G>C (p.Leu422=)
c.1248G>C (p.Leu416=)
c.1806G>C (p.Leu602=)
c.1770G>C (p.Leu590=)
c.1617G>C (p.Leu539=)
16g.57661805G=CA2224716743ADGRG1c.1773G= (p.Leu591=)
c.1791G= (p.Leu597=)
c.1788G= (p.Leu596=)
c.*1454G= (n.*1454G=)
c.*1436G= (n.*1436G=)
c.1281G= (p.Leu427=)
c.1266G= (p.Leu422=)
c.1248G= (p.Leu416=)
c.1806G= (p.Leu602=)
c.1770G= (p.Leu590=)
c.1617G= (p.Leu539=)
16g.57661805G>TCA495791343ADGRG1c.1773G>T (p.Leu591=)
c.1791G>T (p.Leu597=)
c.1788G>T (p.Leu596=)
c.*1454G>T (n.*1454G>T)
c.*1436G>T (n.*1436G>T)
c.1281G>T (p.Leu427=)
c.1266G>T (p.Leu422=)
c.1248G>T (p.Leu416=)
c.1806G>T (p.Leu602=)
c.1770G>T (p.Leu590=)
c.1617G>T (p.Leu539=)
16g.57661806C>ACA495791345ADGRG1c.1774C>A (p.Arg592=)
c.1792C>A (p.Arg598=)
c.1789C>A (p.Arg597=)
c.*1455C>A (n.*1455C>A)
c.*1437C>A (n.*1437C>A)
c.1282C>A (p.Arg428=)
c.1267C>A (p.Arg423=)
c.1249C>A (p.Arg417=)
c.1807C>A (p.Arg603=)
c.1771C>A (p.Arg591=)
c.1618C>A (p.Arg540=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.57661806C=CA2224716744ADGRG1c.1774C= (p.Arg592=)
c.1792C= (p.Arg598=)
c.1789C= (p.Arg597=)
c.*1455C= (n.*1455C=)
c.*1437C= (n.*1437C=)
c.1282C= (p.Arg428=)
c.1267C= (p.Arg423=)
c.1249C= (p.Arg417=)
c.1807C= (p.Arg603=)
c.1771C= (p.Arg591=)
c.1618C= (p.Arg540=)
16g.57661806C>GCA396053566ADGRG1c.1774C>G (p.Arg592Gly)
c.1792C>G (p.Arg598Gly)
c.1789C>G (p.Arg597Gly)
c.*1455C>G (n.*1455C>G)
c.*1437C>G (n.*1437C>G)
c.1282C>G (p.Arg428Gly)
c.1267C>G (p.Arg423Gly)
c.1249C>G (p.Arg417Gly)
c.1807C>G (p.Arg603Gly)
c.1771C>G (p.Arg591Gly)
c.1618C>G (p.Arg540Gly)
16g.57661806C>TCA8078853ADGRG1c.1774C>T (p.Arg592Trp)
c.1792C>T (p.Arg598Trp)
c.1789C>T (p.Arg597Trp)
c.*1455C>T (n.*1455C>T)
c.*1437C>T (n.*1437C>T)
c.1282C>T (p.Arg428Trp)
c.1267C>T (p.Arg423Trp)
c.1249C>T (p.Arg417Trp)
c.1807C>T (p.Arg603Trp)
c.1771C>T (p.Arg591Trp)
c.1618C>T (p.Arg540Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.57661807G>ACA8078854ADGRG1c.1775G>A (p.Arg592Gln)
c.1793G>A (p.Arg598Gln)
c.1790G>A (p.Arg597Gln)
c.*1456G>A (n.*1456G>A)
c.*1438G>A (n.*1438G>A)
c.1283G>A (p.Arg428Gln)
c.1268G>A (p.Arg423Gln)
c.1250G>A (p.Arg417Gln)
c.1808G>A (p.Arg603Gln)
c.1772G>A (p.Arg591Gln)
c.1619G>A (p.Arg540Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.57661807G>CCA8078856ADGRG1c.1775G>C (p.Arg592Pro)
c.1793G>C (p.Arg598Pro)
c.1790G>C (p.Arg597Pro)
c.*1456G>C (n.*1456G>C)
c.*1438G>C (n.*1438G>C)
c.1283G>C (p.Arg428Pro)
c.1268G>C (p.Arg423Pro)
c.1250G>C (p.Arg417Pro)
c.1808G>C (p.Arg603Pro)
c.1772G>C (p.Arg591Pro)
c.1619G>C (p.Arg540Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.57661807G=CA2224716745ADGRG1c.1775G= (p.Arg592=)
c.1793G= (p.Arg598=)
c.1790G= (p.Arg597=)
c.*1456G= (n.*1456G=)
c.*1438G= (n.*1438G=)
c.1283G= (p.Arg428=)
c.1268G= (p.Arg423=)
c.1250G= (p.Arg417=)
c.1808G= (p.Arg603=)
c.1772G= (p.Arg591=)
c.1619G= (p.Arg540=)
16g.57661807G>TCA8078855ADGRG1c.1775G>T (p.Arg592Leu)
c.1793G>T (p.Arg598Leu)
c.1790G>T (p.Arg597Leu)
c.*1456G>T (n.*1456G>T)
c.*1438G>T (n.*1438G>T)
c.1283G>T (p.Arg428Leu)
c.1268G>T (p.Arg423Leu)
c.1250G>T (p.Arg417Leu)
c.1808G>T (p.Arg603Leu)
c.1772G>T (p.Arg591Leu)
c.1619G>T (p.Arg540Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.57661808G>ACA495791350ADGRG1c.1776G>A (p.Arg592=)
c.1794G>A (p.Arg598=)
c.1791G>A (p.Arg597=)
c.*1457G>A (n.*1457G>A)
c.*1439G>A (n.*1439G>A)
c.1284G>A (p.Arg428=)
c.1269G>A (p.Arg423=)
c.1251G>A (p.Arg417=)
c.1809G>A (p.Arg603=)
c.1773G>A (p.Arg591=)
c.1620G>A (p.Arg540=)
16g.57661808G>CCA495791349ADGRG1c.1776G>C (p.Arg592=)
c.1794G>C (p.Arg598=)
c.1791G>C (p.Arg597=)
c.*1457G>C (n.*1457G>C)
c.*1439G>C (n.*1439G>C)
c.1284G>C (p.Arg428=)
c.1269G>C (p.Arg423=)
c.1251G>C (p.Arg417=)
c.1809G>C (p.Arg603=)
c.1773G>C (p.Arg591=)
c.1620G>C (p.Arg540=)
 COSMIC
16g.57661808G>TCA495791348ADGRG1c.1776G>T (p.Arg592=)
c.1794G>T (p.Arg598=)
c.1791G>T (p.Arg597=)
c.*1457G>T (n.*1457G>T)
c.*1439G>T (n.*1439G>T)
c.1284G>T (p.Arg428=)
c.1269G>T (p.Arg423=)
c.1251G>T (p.Arg417=)
c.1809G>T (p.Arg603=)
c.1773G>T (p.Arg591=)
c.1620G>T (p.Arg540=)
16g.57661809C>ACA396053570ADGRG1c.1777C>A (p.Leu593Met)
c.1795C>A (p.Leu599Met)
c.1792C>A (p.Leu598Met)
c.*1458C>A (n.*1458C>A)
c.*1440C>A (n.*1440C>A)
c.1285C>A (p.Leu429Met)
c.1270C>A (p.Leu424Met)
c.1252C>A (p.Leu418Met)
c.1810C>A (p.Leu604Met)
c.1774C>A (p.Leu592Met)
c.1621C>A (p.Leu541Met)
16g.57661809C>GCA396053572ADGRG1c.1777C>G (p.Leu593Val)
c.1795C>G (p.Leu599Val)
c.1792C>G (p.Leu598Val)
c.*1458C>G (n.*1458C>G)
c.*1440C>G (n.*1440C>G)
c.1285C>G (p.Leu429Val)
c.1270C>G (p.Leu424Val)
c.1252C>G (p.Leu418Val)
c.1810C>G (p.Leu604Val)
c.1774C>G (p.Leu592Val)
c.1621C>G (p.Leu541Val)
16g.57661809C>TCA495791351ADGRG1c.1777C>T (p.Leu593=)
c.1795C>T (p.Leu599=)
c.1792C>T (p.Leu598=)
c.*1458C>T (n.*1458C>T)
c.*1440C>T (n.*1440C>T)
c.1285C>T (p.Leu429=)
c.1270C>T (p.Leu424=)
c.1252C>T (p.Leu418=)
c.1810C>T (p.Leu604=)
c.1774C>T (p.Leu592=)
c.1621C>T (p.Leu541=)

Number of alleles fetched