Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.57661714C>A | CA396053136 | ADGRG1 | c.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) | |
16 | g.57661714C= | CA2224716710 | ADGRG1 | c.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=) | |
16 | g.57661714C>G | CA396053140 | ADGRG1 | c.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 |
16 | g.57661714C>T | CA396053138 | ADGRG1 | c.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 |
16 | g.57661715C>A | CA495791233 | ADGRG1 | c.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=) | |
16 | g.57661715C= | CA2224716711 | ADGRG1 | c.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=) | |
16 | g.57661715C>G | CA495791234 | ADGRG1 | c.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=) | |
16 | g.57661715C>T | CA495791235 | ADGRG1 | c.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 |
16 | g.57661716C>A | CA396053142 | ADGRG1 | c.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) | |
16 | g.57661716C>G | CA396053144 | ADGRG1 | c.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) | |
16 | g.57661716C>T | CA495791236 | ADGRG1 | c.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=) | |
16 | g.57661716_57661717del | CA2633489610 | ADGRG1 | c.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 |
16 | g.57661717T>A | CA396053146 | ADGRG1 | c.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) | |
16 | g.57661717T>C | CA396053147 | ADGRG1 | c.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 |
16 | g.57661717T>G | CA396053148 | ADGRG1 | c.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) | |
16 | g.57661717T= | CA2224716712 | ADGRG1 | c.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=) | |
16 | g.57661718G>A | CA495791237 | ADGRG1 | c.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 |
16 | g.57661718G>C | CA495791238 | ADGRG1 | c.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 |
16 | g.57661718G>T | CA495791239 | ADGRG1 | c.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=) | |
16 | g.57661719G>A | CA396053150 | ADGRG1 | c.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 |
16 | g.57661719G>C | CA396053152 | ADGRG1 | c.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) | |
16 | g.57661719G>T | CA396053154 | ADGRG1 | c.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) | |
16 | g.57661720T>A | CA396053156 | ADGRG1 | c.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) | |
16 | g.57661720T>C | CA396053157 | ADGRG1 | c.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) | |
16 | g.57661720T>G | CA396053159 | ADGRG1 | c.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) | |
16 | g.57661720_57661727del | CA2633489638 | ADGRG1 | c.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 |
16 | g.57661721C>A | CA495791240 | ADGRG1 | c.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=) | |
16 | g.57661721C>G | CA495791241 | ADGRG1 | c.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=) | |
16 | g.57661721C>T | CA495791242 | ADGRG1 | c.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=) | |
16 | g.57661722A= | CA2224716713 | ADGRG1 | c.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=) | |
16 | g.57661722A>C | CA396053164 | ADGRG1 | c.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) | |
16 | g.57661722A>G | CA8078837 | ADGRG1 | c.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 |
16 | g.57661722A>T | CA396053162 | ADGRG1 | c.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) | |
16 | g.57661723G>A | CA396053166 | ADGRG1 | c.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 |
16 | g.57661723G>C | CA396053169 | ADGRG1 | c.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) | |
16 | g.57661723G>T | CA396053171 | ADGRG1 | c.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 |
16 | g.57661724C>A | CA396053173 | ADGRG1 | c.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) | |
16 | g.57661724C= | CA2224716714 | ADGRG1 | c.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=) | |
16 | g.57661724C>G | CA396053175 | ADGRG1 | c.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 |
16 | g.57661724C>T | CA8078838 | ADGRG1 | c.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 |
16 | g.57661725T>A | CA396053178 | ADGRG1 | c.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 |
16 | g.57661725T>C | CA396053180 | ADGRG1 | c.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) | |
16 | g.57661725T>G | CA396053182 | ADGRG1 | c.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) | |
16 | g.57661726A= | CA2224716715 | ADGRG1 | c.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=) | |
16 | g.57661726A>C | CA396053184 | ADGRG1 | c.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) | |
16 | g.57661726A>G | CA396053186 | ADGRG1 | c.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 |
16 | g.57661726A>T | CA396053188 | ADGRG1 | c.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) | |
16 | g.57661727C>A | CA396053190 | ADGRG1 | c.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) | |
16 | g.57661727C>G | CA396053192 | ADGRG1 | c.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) | |
16 | g.57661727C>T | CA495791244 | ADGRG1 | c.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=) | |
16 | g.57661728A>C | CA396053198 | ADGRG1 | c.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) | |
16 | g.57661728A>G | CA396053196 | ADGRG1 | c.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 |
16 | g.57661728A>T | CA396053195 | ADGRG1 | c.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 |
16 | g.57661729T>A | CA8078839 | ADGRG1 | c.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 |
16 | g.57661729T>C | CA396053199 | ADGRG1 | c.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) | |
16 | g.57661729T>G | CA396053201 | ADGRG1 | c.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) | |
16 | g.57661729T= | CA2224716716 | ADGRG1 | c.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=) | |
16 | g.57661730C>A | CA495791245 | ADGRG1 | c.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=) | |
16 | g.57661730C= | CA2224716717 | ADGRG1 | c.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=) | |
16 | g.57661730C>G | CA396053202 | ADGRG1 | c.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) | |
16 | g.57661730C>T | CA8078840 | ADGRG1 | c.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 |
16 | g.57661731A>C | CA396053205 | ADGRG1 | c.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) | |
16 | g.57661731A>G | CA396053207 | ADGRG1 | c.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) | |
16 | g.57661731A>T | CA396053208 | ADGRG1 | c.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) | |
16 | g.57661732C>A | CA396053210 | ADGRG1 | c.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) | |
16 | g.57661732C>G | CA396053212 | ADGRG1 | c.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) | |
16 | g.57661732C>T | CA396053214 | ADGRG1 | c.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) | |
16 | g.57661733C>A | CA495791248 | ADGRG1 | c.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=) | |
16 | g.57661733C>G | CA495791247 | ADGRG1 | c.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=) | |
16 | g.57661733C>T | CA495791246 | ADGRG1 | c.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 |
16 | g.57661734A>C | CA396053220 | ADGRG1 | c.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) | |
16 | g.57661734A>G | CA396053222 | ADGRG1 | c.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) | |
16 | g.57661734A>T | CA396053224 | ADGRG1 | c.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) | |
16 | g.57661735A= | CA2224716718 | ADGRG1 | c.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=) | |
16 | g.57661735A>C | CA396053229 | ADGRG1 | c.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 |
16 | g.57661735A>G | CA8078841 | ADGRG1 | c.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 |
16 | g.57661735A>T | CA396053227 | ADGRG1 | c.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) | |
16 | g.57661736C>A | CA396053233 | ADGRG1 | c.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) | |
16 | g.57661736C>G | CA396053234 | ADGRG1 | c.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) | |
16 | g.57661736C>T | CA495791249 | ADGRG1 | c.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=) | |
16 | g.57661737del | CA2633489986 | ADGRG1 | c.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 |
16 | g.57661737C>A | CA396053237 | ADGRG1 | c.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) | |
16 | g.57661737C= | CA2224716719 | ADGRG1 | c.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=) | |
16 | g.57661737C>G | CA396053239 | ADGRG1 | c.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 |
16 | g.57661737C>T | CA495791250 | ADGRG1 | c.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 |
16 | g.57661738T>A | CA396053242 | ADGRG1 | c.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) | |
16 | g.57661738T>C | CA396053244 | ADGRG1 | c.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) | |
16 | g.57661738T>G | CA396053246 | ADGRG1 | c.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 |
16 | g.57661738T= | CA2224716720 | ADGRG1 | c.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=) | |
16 | g.57661739G>A | CA495791251 | ADGRG1 | c.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=) | |
16 | g.57661739G>C | CA495791253 | ADGRG1 | c.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=) | |
16 | g.57661739G>T | CA495791252 | ADGRG1 | c.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=) | |
16 | g.57661740G>A | CA396053248 | ADGRG1 | c.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) | |
16 | g.57661740G>C | CA396053250 | ADGRG1 | c.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) | |
16 | g.57661740G>T | CA396053252 | ADGRG1 | c.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) | |
16 | g.57661741G>A | CA396053255 | ADGRG1 | c.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 |
16 | g.57661741G>C | CA396053257 | ADGRG1 | c.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) | |
16 | g.57661741G>T | CA396053259 | ADGRG1 | c.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) | |
16 | g.57661742C>A | CA495791254 | ADGRG1 | c.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 |
16 | g.57661742C>G | CA495791255 | ADGRG1 | c.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=) | |
16 | g.57661742C>T | CA495791256 | ADGRG1 | c.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=) | |
16 | g.57661743C>A | CA396053263 | ADGRG1 | c.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) | |
16 | g.57661743C= | CA2224716721 | ADGRG1 | c.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=) | |
16 | g.57661743C>G | CA396053261 | ADGRG1 | c.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) | |
16 | g.57661743C>T | CA396053262 | ADGRG1 | c.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 |
16 | g.57661744T>A | CA396053266 | ADGRG1 | c.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) | |
16 | g.57661744T>C | CA396053268 | ADGRG1 | c.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) | |
16 | g.57661744T>G | CA396053270 | ADGRG1 | c.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) | |
16 | g.57661745C>A | CA495791257 | ADGRG1 | c.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=) | |
16 | g.57661745C>G | CA495791258 | ADGRG1 | c.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=) | |
16 | g.57661745C>T | CA495791259 | ADGRG1 | c.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=) | |
16 | g.57661746T>A | CA396053272 | ADGRG1 | c.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) | |
16 | g.57661746T>C | CA396053274 | ADGRG1 | c.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) | |
16 | g.57661746T>G | CA396053276 | ADGRG1 | c.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 |
16 | g.57661746_57661747insC | CA2633490003 | ADGRG1 | c.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 |
16 | g.57661747T>A | CA396053278 | ADGRG1 | c.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) | |
16 | g.57661747T>C | CA396053281 | ADGRG1 | c.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) | |
16 | g.57661747T>G | CA396053282 | ADGRG1 | c.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) | |
16 | g.57661748C>A | CA396053285 | ADGRG1 | c.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) | |
16 | g.57661748C>G | CA396053287 | ADGRG1 | c.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) | |
16 | g.57661748C>T | CA495791261 | ADGRG1 | c.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 |
16 | g.57661748_57661754dup | CA2582342522 | ADGRG1 | c.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 |
16 | g.57661749A>C | CA396053294 | ADGRG1 | c.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) | |
16 | g.57661749A>G | CA396053290 | ADGRG1 | c.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) | |
16 | g.57661749A>T | CA396053292 | ADGRG1 | c.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) | |
16 | g.57661750G>A | CA396053296 | ADGRG1 | c.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) | |
16 | g.57661750G>C | CA396053300 | ADGRG1 | c.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) | |
16 | g.57661750G>T | CA396053298 | ADGRG1 | c.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) | |
16 | g.57661751C>A | CA396053302 | ADGRG1 | c.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) | |
16 | g.57661751C= | CA2224716722 | ADGRG1 | c.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=) | |
16 | g.57661751C>G | CA396053304 | ADGRG1 | c.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) | |
16 | g.57661751C>T | CA495791264 | ADGRG1 | c.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 |
16 | g.57661752C>A | CA396053306 | ADGRG1 | c.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) | |
16 | g.57661752C= | CA2224716723 | ADGRG1 | c.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=) | |
16 | g.57661752C>G | CA396053308 | ADGRG1 | c.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) | |
16 | g.57661752C>T | CA495791265 | ADGRG1 | c.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 |
16 | g.57661753T>A | CA396053310 | ADGRG1 | c.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) | |
16 | g.57661753T>C | CA396053312 | ADGRG1 | c.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 |
16 | g.57661753T>G | CA396053314 | ADGRG1 | c.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) | |
16 | g.57661753T= | CA2224716724 | ADGRG1 | c.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=) | |
16 | g.57661755_57661757del | CA2633490010 | ADGRG1 | c.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 |
16 | g.57661754G>A | CA495791268 | ADGRG1 | c.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=) | |
16 | g.57661754G>C | CA495791267 | ADGRG1 | c.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 |
16 | g.57661754G>T | CA495791266 | ADGRG1 | c.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=) | |
16 | g.57661755G>A | CA396053316 | ADGRG1 | c.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 |
16 | g.57661755G>C | CA396053318 | ADGRG1 | c.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) | |
16 | g.57661755G= | CA2224716725 | ADGRG1 | c.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=) | |
16 | g.57661755G>T | CA396053320 | ADGRG1 | c.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) | |
16 | g.57661756T>A | CA396053322 | ADGRG1 | c.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) | |
16 | g.57661756T>C | CA396053324 | ADGRG1 | c.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) | |
16 | g.57661756T>G | CA396053326 | ADGRG1 | c.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) | |
16 | g.57661757G>A | CA495791269 | ADGRG1 | c.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=) | |
16 | g.57661757G>C | CA495791270 | ADGRG1 | c.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=) | |
16 | g.57661757G>T | CA495791271 | ADGRG1 | c.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=) | |
16 | g.57661758T>A | CA396053332 | ADGRG1 | c.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) | |
16 | g.57661758T>C | CA396053329 | ADGRG1 | c.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 |
16 | g.57661758T>G | CA396053330 | ADGRG1 | c.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 |
16 | g.57661759T>A | CA396053335 | ADGRG1 | c.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) | |
16 | g.57661759T>C | CA396053336 | ADGRG1 | c.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 |
16 | g.57661759T>G | CA396053339 | ADGRG1 | c.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) | |
16 | g.57661759T= | CA2224716726 | ADGRG1 | c.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=) | |
16 | g.57661760T>A | CA396053341 | ADGRG1 | c.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) | |
16 | g.57661760T>C | CA495791272 | ADGRG1 | c.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=) | |
16 | g.57661760T>G | CA396053343 | ADGRG1 | c.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 |
16 | g.57661761C>A | CA396053345 | ADGRG1 | c.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) | |
16 | g.57661761C>G | CA396053347 | ADGRG1 | c.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 |
16 | g.57661761C>T | CA495791273 | ADGRG1 | c.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=) | |
16 | g.57661762T>A | CA396053350 | ADGRG1 | c.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) | |
16 | g.57661762T>C | CA396053352 | ADGRG1 | c.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) | |
16 | g.57661762T>G | CA396053353 | ADGRG1 | c.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) | |
16 | g.57661763G>A | CA495791274 | ADGRG1 | c.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=) | |
16 | g.57661763G>C | CA495791275 | ADGRG1 | c.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 |
16 | g.57661763G>T | CA495791276 | ADGRG1 | c.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=) | |
16 | g.57661764T>A | CA396053357 | ADGRG1 | c.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) | |
16 | g.57661764T>C | CA396053358 | ADGRG1 | c.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) | |
16 | g.57661764T>G | CA396053356 | ADGRG1 | c.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) | |
16 | g.57661765T>A | CA396053360 | ADGRG1 | c.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) | |
16 | g.57661765T>C | CA396053362 | ADGRG1 | c.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) | |
16 | g.57661765T>G | CA396053364 | ADGRG1 | c.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) | |
16 | g.57661766C>A | CA396053366 | ADGRG1 | c.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 |
16 | g.57661766C= | CA2224716727 | ADGRG1 | c.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=) | |
16 | g.57661766C>G | CA396053368 | ADGRG1 | c.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) | |
16 | g.57661766C>T | CA495791277 | ADGRG1 | c.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=) | |
16 | g.57661767A>C | CA396053374 | ADGRG1 | c.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) | |
16 | g.57661767A>G | CA396053370 | ADGRG1 | c.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) | |
16 | g.57661767A>T | CA396053372 | ADGRG1 | c.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) | |
16 | g.57661768A= | CA2224716728 | ADGRG1 | c.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=) | |
16 | g.57661768A>C | CA396053377 | ADGRG1 | c.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) | |
16 | g.57661768A>G | CA8078842 | ADGRG1 | c.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 |
16 | g.57661768A>T | CA396053379 | ADGRG1 | c.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) | |
16 | g.57661769C>A | CA396053380 | ADGRG1 | c.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) | |
16 | g.57661769C>G | CA396053381 | ADGRG1 | c.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) | |
16 | g.57661769C>T | CA495791278 | ADGRG1 | c.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=) | |
16 | g.57661770A= | CA2224716729 | ADGRG1 | c.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=) | |
16 | g.57661770A>C | CA396053384 | ADGRG1 | c.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) | |
16 | g.57661770A>G | CA281581908 | ADGRG1 | c.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 |
16 | g.57661770A>T | CA8078843 | ADGRG1 | c.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 |
16 | g.57661771T>A | CA396053386 | ADGRG1 | c.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) | |
16 | g.57661771T>C | CA8078844 | ADGRG1 | c.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 |
16 | g.57661771T>G | CA396053388 | ADGRG1 | c.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) | |
16 | g.57661771T= | CA2224716730 | ADGRG1 | c.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=) | |
16 | g.57661772G>A | CA396053390 | ADGRG1 | c.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) | |
16 | g.57661772G>C | CA396053392 | ADGRG1 | c.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) | |
16 | g.57661772G>T | CA396053394 | ADGRG1 | c.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 |
16 | g.57661773G>A | CA281581913 | ADGRG1 | c.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 |
16 | g.57661773G>C | CA396053398 | ADGRG1 | c.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) | |
16 | g.57661773G= | CA2224716731 | ADGRG1 | c.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=) | |
16 | g.57661773G>T | CA396053400 | ADGRG1 | c.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) | |
16 | g.57661774C>A | CA396053403 | ADGRG1 | c.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) | |
16 | g.57661774C= | CA2224716732 | ADGRG1 | c.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=) | |
16 | g.57661774C>G | CA396053405 | ADGRG1 | c.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 |
16 | g.57661774C>T | CA396053406 | ADGRG1 | c.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) | |
16 | g.57661775C>A | CA495791283 | ADGRG1 | c.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=) | |
16 | g.57661775C>G | CA495791285 | ADGRG1 | c.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=) | |
16 | g.57661775C>T | CA495791286 | ADGRG1 | c.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=) | |
16 | g.57661776A= | CA2224716733 | ADGRG1 | c.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=) | |
16 | g.57661776A>C | CA396053414 | ADGRG1 | c.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 |
16 | g.57661776A>G | CA8078846 | ADGRG1 | c.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 |
16 | g.57661776A>T | CA8078845 | ADGRG1 | c.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 |
16 | g.57661777T>A | CA396053419 | ADGRG1 | c.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) | |
16 | g.57661777T>C | CA396053417 | ADGRG1 | c.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) | |
16 | g.57661777T>G | CA396053422 | ADGRG1 | c.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) | |
16 | g.57661778G>A | CA396053423 | ADGRG1 | c.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) | |
16 | g.57661778G>C | CA396053426 | ADGRG1 | c.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) | |
16 | g.57661778G>T | CA396053429 | ADGRG1 | c.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) | |
16 | g.57661779C>A | CA396053432 | ADGRG1 | c.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) | |
16 | g.57661779C= | CA2224716734 | ADGRG1 | c.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=) | |
16 | g.57661779C>G | CA8078847 | ADGRG1 | c.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 |
16 | g.57661779C>T | CA495791293 | ADGRG1 | c.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=) | |
16 | g.57661780T>A | CA396053438 | ADGRG1 | c.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) | |
16 | g.57661780T>C | CA8078848 | ADGRG1 | c.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 |
16 | g.57661780T>G | CA396053442 | ADGRG1 | c.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) | |
16 | g.57661780T= | CA2224716735 | ADGRG1 | c.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=) | |
16 | g.57661781A>C | CA495791296 | ADGRG1 | c.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=) | |
16 | g.57661781A>G | CA495791297 | ADGRG1 | c.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=) | |
16 | g.57661781A>T | CA495791298 | ADGRG1 | c.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 |
16 | g.57661782G>A | CA396053446 | ADGRG1 | c.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 |
16 | g.57661782G>C | CA396053450 | ADGRG1 | c.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) | |
16 | g.57661782G>T | CA396053452 | ADGRG1 | c.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) | |
16 | g.57661783C>A | CA281581921 | ADGRG1 | c.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 |
16 | g.57661783C= | CA2224716736 | ADGRG1 | c.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=) | |
16 | g.57661783C>G | CA396053458 | ADGRG1 | c.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) | |
16 | g.57661783C>T | CA396053455 | ADGRG1 | c.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) | |
16 | g.57661784C>A | CA495791301 | ADGRG1 | c.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=) | |
16 | g.57661784C>G | CA495791303 | ADGRG1 | c.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=) | |
16 | g.57661784C>T | CA495791304 | ADGRG1 | c.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 |
16 | g.57661785A>C | CA396053462 | ADGRG1 | c.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) | |
16 | g.57661785A>G | CA396053465 | ADGRG1 | c.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) | |
16 | g.57661785A>T | CA396053467 | ADGRG1 | c.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 |
16 | g.57661786C>A | CA396053470 | ADGRG1 | c.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) | |
16 | g.57661786C>G | CA396053472 | ADGRG1 | c.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) | |
16 | g.57661786C>T | CA396053477 | ADGRG1 | c.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 |
16 | g.57661787C>A | CA495791308 | ADGRG1 | c.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=) | |
16 | g.57661787C>G | CA495791312 | ADGRG1 | c.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=) | |
16 | g.57661787C>T | CA495791311 | ADGRG1 | c.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 |
16 | g.57661788A= | CA2224716737 | ADGRG1 | c.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=) | |
16 | g.57661788A>C | CA396053479 | ADGRG1 | c.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) | |
16 | g.57661788A>G | CA396053482 | ADGRG1 | c.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 |
16 | g.57661788A>T | CA396053484 | ADGRG1 | c.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) | |
16 | g.57661789T>A | CA396053488 | ADGRG1 | c.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) | |
16 | g.57661789T>C | CA396053490 | ADGRG1 | c.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 |
16 | g.57661789T>G | CA396053493 | ADGRG1 | c.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) | |
16 | g.57661790G>A | CA8078849 | ADGRG1 | c.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 |
16 | g.57661790G>C | CA396053500 | ADGRG1 | c.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) | |
16 | g.57661790G= | CA2224716738 | ADGRG1 | c.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=) | |
16 | g.57661790G>T | CA396053497 | ADGRG1 | c.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) | |
16 | g.57661791G>A | CA396053503 | ADGRG1 | c.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) | |
16 | g.57661791G>C | CA396053505 | ADGRG1 | c.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) | |
16 | g.57661791G>T | CA396053508 | ADGRG1 | c.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 |
16 | g.57661792T>A | CA396053511 | ADGRG1 | c.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) | |
16 | g.57661792T>C | CA396053512 | ADGRG1 | c.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 |
16 | g.57661792T>G | CA396053514 | ADGRG1 | c.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) | |
16 | g.57661793G>A | CA495791321 | ADGRG1 | c.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=) | |
16 | g.57661793G>C | CA495791322 | ADGRG1 | c.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=) | |
16 | g.57661793G>T | CA495791323 | ADGRG1 | c.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=) | |
16 | g.57661794G>A | CA396053517 | ADGRG1 | c.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) | |
16 | g.57661794G>C | CA396053519 | ADGRG1 | c.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) | |
16 | g.57661794G>T | CA396053522 | ADGRG1 | c.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) | |
16 | g.57661795T>A | CA396053525 | ADGRG1 | c.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) | |
16 | g.57661795T>C | CA8078850 | ADGRG1 | c.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 |
16 | g.57661795T>G | CA396053529 | ADGRG1 | c.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) | |
16 | g.57661795T= | CA2224716739 | ADGRG1 | c.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=) | |
16 | g.57661796G>A | CA495791329 | ADGRG1 | c.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 |
16 | g.57661796G>C | CA495791330 | ADGRG1 | c.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=) | |
16 | g.57661796G= | CA2224716740 | ADGRG1 | c.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=) | |
16 | g.57661796G>T | CA495791331 | ADGRG1 | c.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=) | |
16 | g.57661797C>A | CA396053534 | ADGRG1 | c.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) | |
16 | g.57661797C>G | CA396053538 | ADGRG1 | c.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) | |
16 | g.57661797C>T | CA396053532 | ADGRG1 | c.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) | |
16 | g.57661798A>C | CA396053542 | ADGRG1 | c.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) | |
16 | g.57661798A>G | CA396053543 | ADGRG1 | c.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) | |
16 | g.57661798A>T | CA396053544 | ADGRG1 | c.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) | |
16 | g.57661799G>A | CA495791333 | ADGRG1 | c.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=) | |
16 | g.57661799G>C | CA396053545 | ADGRG1 | c.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) | |
16 | g.57661799G>T | CA396053547 | ADGRG1 | c.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) | |
16 | g.57661800A>C | CA396053552 | ADGRG1 | c.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) | |
16 | g.57661800A>G | CA396053549 | ADGRG1 | c.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) | |
16 | g.57661800A>T | CA396053550 | ADGRG1 | c.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) | |
16 | g.57661801T>A | CA8078851 | ADGRG1 | c.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 |
16 | g.57661801T>C | CA396053554 | ADGRG1 | c.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) | |
16 | g.57661801T>G | CA396053556 | ADGRG1 | c.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 |
16 | g.57661801T= | CA2224716741 | ADGRG1 | c.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=) | |
16 | g.57661802C>A | CA495791336 | ADGRG1 | c.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 |
16 | g.57661802C>G | CA396053557 | ADGRG1 | c.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) | |
16 | g.57661802C>T | CA495791337 | ADGRG1 | c.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 |
16 | g.57661803C>A | CA396053558 | ADGRG1 | c.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) | |
16 | g.57661803C= | CA2224716742 | ADGRG1 | c.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=) | |
16 | g.57661803C>G | CA396053559 | ADGRG1 | c.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) | |
16 | g.57661803C>T | CA495791341 | ADGRG1 | c.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 |
16 | g.57661804T>A | CA396053561 | ADGRG1 | c.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) | |
16 | g.57661804T>C | CA396053563 | ADGRG1 | c.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 |
16 | g.57661804T>G | CA396053560 | ADGRG1 | c.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) | |
16 | g.57661805G>A | CA8078852 | ADGRG1 | c.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 |
16 | g.57661805G>C | CA495791342 | ADGRG1 | c.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=) | |
16 | g.57661805G= | CA2224716743 | ADGRG1 | c.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=) | |
16 | g.57661805G>T | CA495791343 | ADGRG1 | c.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=) | |
16 | g.57661806C>A | CA495791345 | ADGRG1 | c.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 |
16 | g.57661806C= | CA2224716744 | ADGRG1 | c.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=) | |
16 | g.57661806C>G | CA396053566 | ADGRG1 | c.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) | |
16 | g.57661806C>T | CA8078853 | ADGRG1 | c.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 |
16 | g.57661807G>A | CA8078854 | ADGRG1 | c.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 |
16 | g.57661807G>C | CA8078856 | ADGRG1 | c.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 |
16 | g.57661807G= | CA2224716745 | ADGRG1 | c.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=) | |
16 | g.57661807G>T | CA8078855 | ADGRG1 | c.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 |
16 | g.57661808G>A | CA495791350 | ADGRG1 | c.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=) | |
16 | g.57661808G>C | CA495791349 | ADGRG1 | c.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 |
16 | g.57661808G>T | CA495791348 | ADGRG1 | c.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=) | |
16 | g.57661809C>A | CA396053570 | ADGRG1 | c.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) | |
16 | g.57661809C>G | CA396053572 | ADGRG1 | c.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) | |
16 | g.57661809C>T | CA495791351 | ADGRG1 | c.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=) | |
16 | g.57661810T>A | CA396053574 | ADGRG1 | c.1778T>A (p.Leu593Gln) c.1796T>A (p.Leu599Gln) c.1793T>A (p.Leu598Gln) c.*1459T>A (n.*1459T>A) c.*1441T>A (n.*1441T>A) c.1286T>A (p.Leu429Gln) c.1271T>A (p.Leu424Gln) c.1253T>A (p.Leu418Gln) c.1811T>A (p.Leu604Gln) c.1775T>A (p.Leu592Gln) c.1622T>A (p.Leu541Gln) | |
16 | g.57661810T>C | CA396053576 | ADGRG1 | c.1778T>C (p.Leu593Pro) c.1796T>C (p.Leu599Pro) c.1793T>C (p.Leu598Pro) c.*1459T>C (n.*1459T>C) c.*1441T>C (n.*1441T>C) c.1286T>C (p.Leu429Pro) c.1271T>C (p.Leu424Pro) c.1253T>C (p.Leu418Pro) c.1811T>C (p.Leu604Pro) c.1775T>C (p.Leu592Pro) c.1622T>C (p.Leu541Pro) | |
16 | g.57661810T>G | CA396053578 | ADGRG1 | c.1778T>G (p.Leu593Arg) c.1796T>G (p.Leu599Arg) c.1793T>G (p.Leu598Arg) c.*1459T>G (n.*1459T>G) c.*1441T>G (n.*1441T>G) c.1286T>G (p.Leu429Arg) c.1271T>G (p.Leu424Arg) c.1253T>G (p.Leu418Arg) c.1811T>G (p.Leu604Arg) c.1775T>G (p.Leu592Arg) c.1622T>G (p.Leu541Arg) | |
16 | g.57661810_57661815delinsAGATCCTGTGGGCAGAT | CA2695223531 | ADGRG1 | c.1778_1783delinsAGATCCTGTGGGCAGAT (p.Leu593GlnfsTer16) c.1796_1801delinsAGATCCTGTGGGCAGAT (p.Leu599GlnfsTer16) c.1793_1798delinsAGATCCTGTGGGCAGAT (p.Leu598GlnfsTer16) c.*1459_*1464delinsAGATCCTGTGGGCAGAT (n.*1459_*1464delinsAGATCCTGTGGGCAGAT) c.*1441_*1446delinsAGATCCTGTGGGCAGAT (n.*1441_*1446delinsAGATCCTGTGGGCAGAT) c.1286_1291delinsAGATCCTGTGGGCAGAT (p.Leu429GlnfsTer16) c.1271_1276delinsAGATCCTGTGGGCAGAT (p.Leu424GlnfsTer16) c.1253_1258delinsAGATCCTGTGGGCAGAT (p.Leu418GlnfsTer16) c.1811_1816delinsAGATCCTGTGGGCAGAT (p.Leu604GlnfsTer16) c.1775_1780delinsAGATCCTGTGGGCAGAT (p.Leu592GlnfsTer16) c.1622_1627delinsAGATCCTGTGGGCAGAT (p.Leu541GlnfsTer16) | |
16 | g.57661811G>A | CA495791354 | ADGRG1 | c.1779G>A (p.Leu593=) c.1797G>A (p.Leu599=) c.1794G>A (p.Leu598=) c.*1460G>A (n.*1460G>A) c.*1442G>A (n.*1442G>A) c.1287G>A (p.Leu429=) c.1272G>A (p.Leu424=) c.1254G>A (p.Leu418=) c.1812G>A (p.Leu604=) c.1776G>A (p.Leu592=) c.1623G>A (p.Leu541=) | |
16 | g.57661811G>C | CA495791353 | ADGRG1 | c.1779G>C (p.Leu593=) c.1797G>C (p.Leu599=) c.1794G>C (p.Leu598=) c.*1460G>C (n.*1460G>C) c.*1442G>C (n.*1442G>C) c.1287G>C (p.Leu429=) c.1272G>C (p.Leu424=) c.1254G>C (p.Leu418=) c.1812G>C (p.Leu604=) c.1776G>C (p.Leu592=) c.1623G>C (p.Leu541=) | |
16 | g.57661811G>T | CA495791352 | ADGRG1 | c.1779G>T (p.Leu593=) c.1797G>T (p.Leu599=) c.1794G>T (p.Leu598=) c.*1460G>T (n.*1460G>T) c.*1442G>T (n.*1442G>T) c.1287G>T (p.Leu429=) c.1272G>T (p.Leu424=) c.1254G>T (p.Leu418=) c.1812G>T (p.Leu604=) c.1776G>T (p.Leu592=) c.1623G>T (p.Leu541=) | |
16 | g.57661812C>A | CA396053580 | ADGRG1 | c.1780C>A (p.Arg594Ser) c.1798C>A (p.Arg600Ser) c.1795C>A (p.Arg599Ser) c.*1461C>A (n.*1461C>A) c.*1443C>A (n.*1443C>A) c.1288C>A (p.Arg430Ser) c.1273C>A (p.Arg425Ser) c.1255C>A (p.Arg419Ser) c.1813C>A (p.Arg605Ser) c.1777C>A (p.Arg593Ser) c.1624C>A (p.Arg542Ser) | |
16 | g.57661812C= | CA2224716746 | ADGRG1 | c.1780C= (p.Arg594=) c.1798C= (p.Arg600=) c.1795C= (p.Arg599=) c.*1461C= (n.*1461C=) c.*1443C= (n.*1443C=) c.1288C= (p.Arg430=) c.1273C= (p.Arg425=) c.1255C= (p.Arg419=) c.1813C= (p.Arg605=) c.1777C= (p.Arg593=) c.1624C= (p.Arg542=) | |
16 | g.57661812C>G | CA396053583 | ADGRG1 | c.1780C>G (p.Arg594Gly) c.1798C>G (p.Arg600Gly) c.1795C>G (p.Arg599Gly) c.*1461C>G (n.*1461C>G) c.*1443C>G (n.*1443C>G) c.1288C>G (p.Arg430Gly) c.1273C>G (p.Arg425Gly) c.1255C>G (p.Arg419Gly) c.1813C>G (p.Arg605Gly) c.1777C>G (p.Arg593Gly) c.1624C>G (p.Arg542Gly) | |
16 | g.57661812C>T | CA8078857 | ADGRG1 | c.1780C>T (p.Arg594Cys) c.1798C>T (p.Arg600Cys) c.1795C>T (p.Arg599Cys) c.*1461C>T (n.*1461C>T) c.*1443C>T (n.*1443C>T) c.1288C>T (p.Arg430Cys) c.1273C>T (p.Arg425Cys) c.1255C>T (p.Arg419Cys) c.1813C>T (p.Arg605Cys) c.1777C>T (p.Arg593Cys) c.1624C>T (p.Arg542Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.57661813G>A | CA8078858 | ADGRG1 | c.1781G>A (p.Arg594His) c.1799G>A (p.Arg600His) c.1796G>A (p.Arg599His) c.*1462G>A (n.*1462G>A) c.*1444G>A (n.*1444G>A) c.1289G>A (p.Arg430His) c.1274G>A (p.Arg425His) c.1256G>A (p.Arg419His) c.1814G>A (p.Arg605His) c.1778G>A (p.Arg593His) c.1625G>A (p.Arg542His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.57661813G>C | CA396053585 | ADGRG1 | c.1781G>C (p.Arg594Pro) c.1799G>C (p.Arg600Pro) c.1796G>C (p.Arg599Pro) c.*1462G>C (n.*1462G>C) c.*1444G>C (n.*1444G>C) c.1289G>C (p.Arg430Pro) c.1274G>C (p.Arg425Pro) c.1256G>C (p.Arg419Pro) c.1814G>C (p.Arg605Pro) c.1778G>C (p.Arg593Pro) c.1625G>C (p.Arg542Pro) | |
16 | g.57661813G= | CA2224716747 | ADGRG1 | c.1781G= (p.Arg594=) c.1799G= (p.Arg600=) c.1796G= (p.Arg599=) c.*1462G= (n.*1462G=) c.*1444G= (n.*1444G=) c.1289G= (p.Arg430=) c.1274G= (p.Arg425=) c.1256G= (p.Arg419=) c.1814G= (p.Arg605=) c.1778G= (p.Arg593=) c.1625G= (p.Arg542=) | |
16 | g.57661813G>T | CA396053587 | ADGRG1 | c.1781G>T (p.Arg594Leu) c.1799G>T (p.Arg600Leu) c.1796G>T (p.Arg599Leu) c.*1462G>T (n.*1462G>T) c.*1444G>T (n.*1444G>T) c.1289G>T (p.Arg430Leu) c.1274G>T (p.Arg425Leu) c.1256G>T (p.Arg419Leu) c.1814G>T (p.Arg605Leu) c.1778G>T (p.Arg593Leu) c.1625G>T (p.Arg542Leu) | dbSNP |
16 | g.57661814C>A | CA495791359 | ADGRG1 | c.1782C>A (p.Arg594=) c.1800C>A (p.Arg600=) c.1797C>A (p.Arg599=) c.*1463C>A (n.*1463C>A) c.*1445C>A (n.*1445C>A) c.1290C>A (p.Arg430=) c.1275C>A (p.Arg425=) c.1257C>A (p.Arg419=) c.1815C>A (p.Arg605=) c.1779C>A (p.Arg593=) c.1626C>A (p.Arg542=) | ClinVar dbSNP |
16 | g.57661814C= | CA2224716748 | ADGRG1 | c.1782C= (p.Arg594=) c.1800C= (p.Arg600=) c.1797C= (p.Arg599=) c.*1463C= (n.*1463C=) c.*1445C= (n.*1445C=) c.1290C= (p.Arg430=) c.1275C= (p.Arg425=) c.1257C= (p.Arg419=) c.1815C= (p.Arg605=) c.1779C= (p.Arg593=) c.1626C= (p.Arg542=) | |
16 | g.57661814C>G | CA8078859 | ADGRG1 | c.1782C>G (p.Arg594=) c.1800C>G (p.Arg600=) c.1797C>G (p.Arg599=) c.*1463C>G (n.*1463C>G) c.*1445C>G (n.*1445C>G) c.1290C>G (p.Arg430=) c.1275C>G (p.Arg425=) c.1257C>G (p.Arg419=) c.1815C>G (p.Arg605=) c.1779C>G (p.Arg593=) c.1626C>G (p.Arg542=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.57661814C>T | CA495791360 | ADGRG1 | c.1782C>T (p.Arg594=) c.1800C>T (p.Arg600=) c.1797C>T (p.Arg599=) c.*1463C>T (n.*1463C>T) c.*1445C>T (n.*1445C>T) c.1290C>T (p.Arg430=) c.1275C>T (p.Arg425=) c.1257C>T (p.Arg419=) c.1815C>T (p.Arg605=) c.1779C>T (p.Arg593=) c.1626C>T (p.Arg542=) | gnomAD v4 |
16 | g.57661818del | CA645572323 | ADGRG1 | c.1786del (p.His596ThrfsTer9) c.1804del (p.His602ThrfsTer9) c.1801del (p.His601ThrfsTer9) c.*1467del (n.*1467del) c.*1449del (n.*1449del) c.1294del (p.His432ThrfsTer9) c.1279del (p.His427ThrfsTer9) c.1261del (p.His421ThrfsTer9) c.1819del (p.His607ThrfsTer9) c.1783del (p.His595ThrfsTer9) c.1630del (p.His544ThrfsTer9) | COSMIC |
16 | g.57661817_57661818del | CA2527372942 | ADGRG1 | c.1785_1786del (p.Thr597ProfsTer?) c.1803_1804del (p.Thr603ProfsTer?) c.1800_1801del (p.Thr602ProfsTer?) c.*1466_*1467del (n.*1466_*1467del) c.*1448_*1449del (n.*1448_*1449del) c.1293_1294del (p.Thr433ProfsTer?) c.1278_1279del (p.Thr428ProfsTer?) c.1260_1261del (p.Thr422ProfsTer?) c.1818_1819del (p.Thr608ProfsTer?) c.1782_1783del (p.Thr596ProfsTer?) c.1629_1630del (p.Thr545ProfsTer?) |