| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.57661707C>A | CA495791228 | ADGRG1 | c.1675C>A (p.Arg559=) c.1693C>A (p.Arg565=) c.1690C>A (p.Arg564=) c.*1356C>A (n.*1356C>A) c.*1338C>A (n.*1338C>A) c.1183C>A (p.Arg395=) c.1168C>A (p.Arg390=) c.1150C>A (p.Arg384=) c.1708C>A (p.Arg570=) c.1672C>A (p.Arg558=) c.1519C>A (p.Arg507=) | |
| 16 | g.57661707C= | CA2224716705 | ADGRG1 | c.1675C= (p.Arg559=) c.1693C= (p.Arg565=) c.1690C= (p.Arg564=) c.*1356C= (n.*1356C=) c.*1338C= (n.*1338C=) c.1183C= (p.Arg395=) c.1168C= (p.Arg390=) c.1150C= (p.Arg384=) c.1708C= (p.Arg570=) c.1672C= (p.Arg558=) c.1519C= (p.Arg507=) | |
| 16 | g.57661707C>G | CA396053104 | ADGRG1 | c.1675C>G (p.Arg559Gly) c.1693C>G (p.Arg565Gly) c.1690C>G (p.Arg564Gly) c.*1356C>G (n.*1356C>G) c.*1338C>G (n.*1338C>G) c.1183C>G (p.Arg395Gly) c.1168C>G (p.Arg390Gly) c.1150C>G (p.Arg384Gly) c.1708C>G (p.Arg570Gly) c.1672C>G (p.Arg558Gly) c.1519C>G (p.Arg507Gly) | |
| 16 | g.57661707C>T | CA253611 | ADGRG1 | c.1675C>T (p.Arg559Trp) c.1693C>T (p.Arg565Trp) c.1690C>T (p.Arg564Trp) c.*1356C>T (n.*1356C>T) c.*1338C>T (n.*1338C>T) c.1183C>T (p.Arg395Trp) c.1168C>T (p.Arg390Trp) c.1150C>T (p.Arg384Trp) c.1708C>T (p.Arg570Trp) c.1672C>T (p.Arg558Trp) c.1519C>T (p.Arg507Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57661708G>A | CA8078835 | ADGRG1 | c.1676G>A (p.Arg559Gln) c.1694G>A (p.Arg565Gln) c.1691G>A (p.Arg564Gln) c.*1357G>A (n.*1357G>A) c.*1339G>A (n.*1339G>A) c.1184G>A (p.Arg395Gln) c.1169G>A (p.Arg390Gln) c.1151G>A (p.Arg384Gln) c.1709G>A (p.Arg570Gln) c.1673G>A (p.Arg558Gln) c.1520G>A (p.Arg507Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57661708G>C | CA8078836 | ADGRG1 | c.1676G>C (p.Arg559Pro) c.1694G>C (p.Arg565Pro) c.1691G>C (p.Arg564Pro) c.*1357G>C (n.*1357G>C) c.*1339G>C (n.*1339G>C) c.1184G>C (p.Arg395Pro) c.1169G>C (p.Arg390Pro) c.1151G>C (p.Arg384Pro) c.1709G>C (p.Arg570Pro) c.1673G>C (p.Arg558Pro) c.1520G>C (p.Arg507Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57661708G= | CA2224716706 | ADGRG1 | c.1676G= (p.Arg559=) c.1694G= (p.Arg565=) c.1691G= (p.Arg564=) c.*1357G= (n.*1357G=) c.*1339G= (n.*1339G=) c.1184G= (p.Arg395=) c.1169G= (p.Arg390=) c.1151G= (p.Arg384=) c.1709G= (p.Arg570=) c.1673G= (p.Arg558=) c.1520G= (p.Arg507=) | |
| 16 | g.57661708G>T | CA396053112 | ADGRG1 | c.1676G>T (p.Arg559Leu) c.1694G>T (p.Arg565Leu) c.1691G>T (p.Arg564Leu) c.*1357G>T (n.*1357G>T) c.*1339G>T (n.*1339G>T) c.1184G>T (p.Arg395Leu) c.1169G>T (p.Arg390Leu) c.1151G>T (p.Arg384Leu) c.1709G>T (p.Arg570Leu) c.1673G>T (p.Arg558Leu) c.1520G>T (p.Arg507Leu) | gnomAD v4 |
| 16 | g.57661709G>A | CA495791229 | ADGRG1 | c.1677G>A (p.Arg559=) c.1695G>A (p.Arg565=) c.1692G>A (p.Arg564=) c.*1358G>A (n.*1358G>A) c.*1340G>A (n.*1340G>A) c.1185G>A (p.Arg395=) c.1170G>A (p.Arg390=) c.1152G>A (p.Arg384=) c.1710G>A (p.Arg570=) c.1674G>A (p.Arg558=) c.1521G>A (p.Arg507=) | ClinVar dbSNP |
| 16 | g.57661709G>C | CA495791230 | ADGRG1 | c.1677G>C (p.Arg559=) c.1695G>C (p.Arg565=) c.1692G>C (p.Arg564=) c.*1358G>C (n.*1358G>C) c.*1340G>C (n.*1340G>C) c.1185G>C (p.Arg395=) c.1170G>C (p.Arg390=) c.1152G>C (p.Arg384=) c.1710G>C (p.Arg570=) c.1674G>C (p.Arg558=) c.1521G>C (p.Arg507=) | |
| 16 | g.57661709G>T | CA495791231 | ADGRG1 | c.1677G>T (p.Arg559=) c.1695G>T (p.Arg565=) c.1692G>T (p.Arg564=) c.*1358G>T (n.*1358G>T) c.*1340G>T (n.*1340G>T) c.1185G>T (p.Arg395=) c.1170G>T (p.Arg390=) c.1152G>T (p.Arg384=) c.1710G>T (p.Arg570=) c.1674G>T (p.Arg558=) c.1521G>T (p.Arg507=) | |
| 16 | g.57661710G>A | CA396053115 | ADGRG1 | c.1678G>A (p.Asp560Asn) c.1696G>A (p.Asp566Asn) c.1693G>A (p.Asp565Asn) c.*1359G>A (n.*1359G>A) c.*1341G>A (n.*1341G>A) c.1186G>A (p.Asp396Asn) c.1171G>A (p.Asp391Asn) c.1153G>A (p.Asp385Asn) c.1711G>A (p.Asp571Asn) c.1675G>A (p.Asp559Asn) c.1522G>A (p.Asp508Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.57661710G>C | CA396053117 | ADGRG1 | c.1678G>C (p.Asp560His) c.1696G>C (p.Asp566His) c.1693G>C (p.Asp565His) c.*1359G>C (n.*1359G>C) c.*1341G>C (n.*1341G>C) c.1186G>C (p.Asp396His) c.1171G>C (p.Asp391His) c.1153G>C (p.Asp385His) c.1711G>C (p.Asp571His) c.1675G>C (p.Asp559His) c.1522G>C (p.Asp508His) | |
| 16 | g.57661710G= | CA2224716707 | ADGRG1 | c.1678G= (p.Asp560=) c.1696G= (p.Asp566=) c.1693G= (p.Asp565=) c.*1359G= (n.*1359G=) c.*1341G= (n.*1341G=) c.1186G= (p.Asp396=) c.1171G= (p.Asp391=) c.1153G= (p.Asp385=) c.1711G= (p.Asp571=) c.1675G= (p.Asp559=) c.1522G= (p.Asp508=) | |
| 16 | g.57661710G>T | CA396053118 | ADGRG1 | c.1678G>T (p.Asp560Tyr) c.1696G>T (p.Asp566Tyr) c.1693G>T (p.Asp565Tyr) c.*1359G>T (n.*1359G>T) c.*1341G>T (n.*1341G>T) c.1186G>T (p.Asp396Tyr) c.1171G>T (p.Asp391Tyr) c.1153G>T (p.Asp385Tyr) c.1711G>T (p.Asp571Tyr) c.1675G>T (p.Asp559Tyr) c.1522G>T (p.Asp508Tyr) | |
| 16 | g.57661711A>C | CA396053125 | ADGRG1 | c.1679A>C (p.Asp560Ala) c.1697A>C (p.Asp566Ala) c.1694A>C (p.Asp565Ala) c.*1360A>C (n.*1360A>C) c.*1342A>C (n.*1342A>C) c.1187A>C (p.Asp396Ala) c.1172A>C (p.Asp391Ala) c.1154A>C (p.Asp385Ala) c.1712A>C (p.Asp571Ala) c.1676A>C (p.Asp559Ala) c.1523A>C (p.Asp508Ala) | |
| 16 | g.57661711A>G | CA396053121 | ADGRG1 | c.1679A>G (p.Asp560Gly) c.1697A>G (p.Asp566Gly) c.1694A>G (p.Asp565Gly) c.*1360A>G (n.*1360A>G) c.*1342A>G (n.*1342A>G) c.1187A>G (p.Asp396Gly) c.1172A>G (p.Asp391Gly) c.1154A>G (p.Asp385Gly) c.1712A>G (p.Asp571Gly) c.1676A>G (p.Asp559Gly) c.1523A>G (p.Asp508Gly) | |
| 16 | g.57661711A>T | CA396053124 | ADGRG1 | c.1679A>T (p.Asp560Val) c.1697A>T (p.Asp566Val) c.1694A>T (p.Asp565Val) c.*1360A>T (n.*1360A>T) c.*1342A>T (n.*1342A>T) c.1187A>T (p.Asp396Val) c.1172A>T (p.Asp391Val) c.1154A>T (p.Asp385Val) c.1712A>T (p.Asp571Val) c.1676A>T (p.Asp559Val) c.1523A>T (p.Asp508Val) | |
| 16 | g.57661712C>A | CA396053127 | ADGRG1 | c.1680C>A (p.Asp560Glu) c.1698C>A (p.Asp566Glu) c.1695C>A (p.Asp565Glu) c.*1361C>A (n.*1361C>A) c.*1343C>A (n.*1343C>A) c.1188C>A (p.Asp396Glu) c.1173C>A (p.Asp391Glu) c.1155C>A (p.Asp385Glu) c.1713C>A (p.Asp571Glu) c.1677C>A (p.Asp559Glu) c.1524C>A (p.Asp508Glu) | dbSNP gnomAD v4 |
| 16 | g.57661712C= | CA2224716708 | ADGRG1 | c.1680C= (p.Asp560=) c.1698C= (p.Asp566=) c.1695C= (p.Asp565=) c.*1361C= (n.*1361C=) c.*1343C= (n.*1343C=) c.1188C= (p.Asp396=) c.1173C= (p.Asp391=) c.1155C= (p.Asp385=) c.1713C= (p.Asp571=) c.1677C= (p.Asp559=) c.1524C= (p.Asp508=) | |
| 16 | g.57661712C>G | CA396053129 | ADGRG1 | c.1680C>G (p.Asp560Glu) c.1698C>G (p.Asp566Glu) c.1695C>G (p.Asp565Glu) c.*1361C>G (n.*1361C>G) c.*1343C>G (n.*1343C>G) c.1188C>G (p.Asp396Glu) c.1173C>G (p.Asp391Glu) c.1155C>G (p.Asp385Glu) c.1713C>G (p.Asp571Glu) c.1677C>G (p.Asp559Glu) c.1524C>G (p.Asp508Glu) | |
| 16 | g.57661712C>T | CA495791232 | ADGRG1 | c.1680C>T (p.Asp560=) c.1698C>T (p.Asp566=) c.1695C>T (p.Asp565=) c.*1361C>T (n.*1361C>T) c.*1343C>T (n.*1343C>T) c.1188C>T (p.Asp396=) c.1173C>T (p.Asp391=) c.1155C>T (p.Asp385=) c.1713C>T (p.Asp571=) c.1677C>T (p.Asp559=) c.1524C>T (p.Asp508=) | |
| 16 | g.57661713T>A | CA396053132 | ADGRG1 | c.1681T>A (p.Ser561Thr) c.1699T>A (p.Ser567Thr) c.1696T>A (p.Ser566Thr) c.*1362T>A (n.*1362T>A) c.*1344T>A (n.*1344T>A) c.1189T>A (p.Ser397Thr) c.1174T>A (p.Ser392Thr) c.1156T>A (p.Ser386Thr) c.1714T>A (p.Ser572Thr) c.1678T>A (p.Ser560Thr) c.1525T>A (p.Ser509Thr) | |
| 16 | g.57661713T>C | CA396053133 | ADGRG1 | c.1681T>C (p.Ser561Pro) c.1699T>C (p.Ser567Pro) c.1696T>C (p.Ser566Pro) c.*1362T>C (n.*1362T>C) c.*1344T>C (n.*1344T>C) c.1189T>C (p.Ser397Pro) c.1174T>C (p.Ser392Pro) c.1156T>C (p.Ser386Pro) c.1714T>C (p.Ser572Pro) c.1678T>C (p.Ser560Pro) c.1525T>C (p.Ser509Pro) | |
| 16 | g.57661713T>G | CA396053134 | ADGRG1 | c.1681T>G (p.Ser561Ala) c.1699T>G (p.Ser567Ala) c.1696T>G (p.Ser566Ala) c.*1362T>G (n.*1362T>G) c.*1344T>G (n.*1344T>G) c.1189T>G (p.Ser397Ala) c.1174T>G (p.Ser392Ala) c.1156T>G (p.Ser386Ala) c.1714T>G (p.Ser572Ala) c.1678T>G (p.Ser560Ala) c.1525T>G (p.Ser509Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57661713T= | CA2224716709 | ADGRG1 | c.1681T= (p.Ser561=) c.1699T= (p.Ser567=) c.1696T= (p.Ser566=) c.*1362T= (n.*1362T=) c.*1344T= (n.*1344T=) c.1189T= (p.Ser397=) c.1174T= (p.Ser392=) c.1156T= (p.Ser386=) c.1714T= (p.Ser572=) c.1678T= (p.Ser560=) c.1525T= (p.Ser509=) | |
| 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) |