| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.137762710_137762723delinsGGCCTCCAGGAAGT | CA1884659564 | EHMT1 | c.1537_1550delinsGGCCTCCAGGAAGT (p.Gly513=) c.1423_1436delinsGGCCTCCAGGAAGT (p.Gly475=) c.1444_1457delinsGGCCTCCAGGAAGT (p.Gly482=) c.1577_1590delinsGGCCTCCAGGAAGT (n.1577_1590delinsGGCCTCCAGGAAGT) c.1482_1495delinsGGCCTCCAGGAAGT c.1164_1177delinsGGCCTCCAGGAAGT c.706_719delinsGGCCTCCAGGAAGT (p.Gly236=) c.*1272_*1285delinsGGCCTCCAGGAAGT (n.*1272_*1285delinsGGCCTCCAGGAAGT) c.394_407delinsGGCCTCCAGGAAGT (p.Gly132=) c.229_242delinsGGCCTCCAGGAAGT (p.Gly77=) c.630_643delinsGGCCTCCAGGAAGT c.1528_1541delinsGGCCTCCAGGAAGT (p.Gly510=) c.1519_1532delinsGGCCTCCAGGAAGT (p.Gly507=) c.1546_1559delinsGGCCTCCAGGAAGT (p.Gly516=) c.1543_1556delinsGGCCTCCAGGAAGT (p.Gly515=) c.1525_1538delinsGGCCTCCAGGAAGT (p.Gly509=) c.1468_1481delinsGGCCTCCAGGAAGT (p.Gly490=) c.-33_-20delinsGGCCTCCAGGAAGT (n.-33_-20delinsGGCCTCCAGGAAGT) c.1516_1529delinsGGCCTCCAGGAAGT (p.Gly506=) c.1522_1535delinsGGCCTCCAGGAAGT (p.Gly508=) c.1438_1451delinsGGCCTCCAGGAAGT (p.Gly480=) c.1366_1379delinsGGCCTCCAGGAAGT (p.Gly456=) c.661_674delinsGGCCTCCAGGAAGT (p.Gly221=) | |
| 9 | g.137762716_137762728del | CA1139661357 | EHMT1 | c.1543_1555del (p.Gln515SerfsTer?) c.1429_1441del (p.Gln477SerfsTer?) c.1450_1462del (p.Gln484SerfsTer?) c.1583_1595del (n.1583_1595del) c.1488_1500del c.1170_1182del c.712_724del (p.Gln238SerfsTer?) c.*1278_*1290del (n.*1278_*1290del) c.400_412del (p.Gln134SerfsTer?) c.235_247del (p.Gln79SerfsTer?) c.636_648del c.1534_1546del (p.Gln512SerfsTer?) c.1525_1537del (p.Gln509SerfsTer?) c.1552_1564del (p.Gln518SerfsTer?) c.1549_1561del (p.Gln517SerfsTer?) c.1531_1543del (p.Gln511SerfsTer?) c.1474_1486del (p.Gln492SerfsTer?) c.-27_-15del (n.-27_-15del) c.1522_1534del (p.Gln508SerfsTer?) c.1528_1540del (p.Gln510SerfsTer?) c.1444_1456del (p.Gln482SerfsTer?) c.1372_1384del (p.Gln458SerfsTer?) c.667_679del (p.Gln223SerfsTer?) | ClinVar dbSNP |
| 9 | g.137762722G>A | CA375768901 | EHMT1 | c.1549G>A (p.Val517Met) c.1435G>A (p.Val479Met) c.1456G>A (p.Val486Met) c.1589G>A (n.1589G>A) c.1494G>A c.1176G>A c.718G>A (p.Val240Met) c.*1284G>A (n.*1284G>A) c.406G>A (p.Val136Met) c.241G>A (p.Val81Met) c.642G>A c.1540G>A (p.Val514Met) c.1531G>A (p.Val511Met) c.1558G>A (p.Val520Met) c.1555G>A (p.Val519Met) c.1537G>A (p.Val513Met) c.1480G>A (p.Val494Met) c.-21G>A (n.-21G>A) c.1528G>A (p.Val510Met) c.1534G>A (p.Val512Met) c.1450G>A (p.Val484Met) c.1378G>A (p.Val460Met) c.673G>A (p.Val225Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137762722G>C | CA375768913 | EHMT1 | c.1549G>C (p.Val517Leu) c.1435G>C (p.Val479Leu) c.1456G>C (p.Val486Leu) c.1589G>C (n.1589G>C) c.1494G>C c.1176G>C c.718G>C (p.Val240Leu) c.*1284G>C (n.*1284G>C) c.406G>C (p.Val136Leu) c.241G>C (p.Val81Leu) c.642G>C c.1540G>C (p.Val514Leu) c.1531G>C (p.Val511Leu) c.1558G>C (p.Val520Leu) c.1555G>C (p.Val519Leu) c.1537G>C (p.Val513Leu) c.1480G>C (p.Val494Leu) c.-21G>C (n.-21G>C) c.1528G>C (p.Val510Leu) c.1534G>C (p.Val512Leu) c.1450G>C (p.Val484Leu) c.1378G>C (p.Val460Leu) c.673G>C (p.Val225Leu) | |
| 9 | g.137762722G= | CA1884659569 | EHMT1 | c.1549G= (p.Val517=) c.1435G= (p.Val479=) c.1456G= (p.Val486=) c.1589G= (n.1589G=) c.1494G= c.1176G= c.718G= (p.Val240=) c.*1284G= (n.*1284G=) c.406G= (p.Val136=) c.241G= (p.Val81=) c.642G= c.1540G= (p.Val514=) c.1531G= (p.Val511=) c.1558G= (p.Val520=) c.1555G= (p.Val519=) c.1537G= (p.Val513=) c.1480G= (p.Val494=) c.-21G= (n.-21G=) c.1528G= (p.Val510=) c.1534G= (p.Val512=) c.1450G= (p.Val484=) c.1378G= (p.Val460=) c.673G= (p.Val225=) | |
| 9 | g.137762722G>T | CA375768918 | EHMT1 | c.1549G>T (p.Val517Leu) c.1435G>T (p.Val479Leu) c.1456G>T (p.Val486Leu) c.1589G>T (n.1589G>T) c.1494G>T c.1176G>T c.718G>T (p.Val240Leu) c.*1284G>T (n.*1284G>T) c.406G>T (p.Val136Leu) c.241G>T (p.Val81Leu) c.642G>T c.1540G>T (p.Val514Leu) c.1531G>T (p.Val511Leu) c.1558G>T (p.Val520Leu) c.1555G>T (p.Val519Leu) c.1537G>T (p.Val513Leu) c.1480G>T (p.Val494Leu) c.-21G>T (n.-21G>T) c.1528G>T (p.Val510Leu) c.1534G>T (p.Val512Leu) c.1450G>T (p.Val484Leu) c.1378G>T (p.Val460Leu) c.673G>T (p.Val225Leu) | |
| 9 | g.137762723T>A | CA375768921 | EHMT1 | c.1550T>A (p.Val517Glu) c.1436T>A (p.Val479Glu) c.1457T>A (p.Val486Glu) c.1590T>A (n.1590T>A) c.1495T>A c.1177T>A c.719T>A (p.Val240Glu) c.*1285T>A (n.*1285T>A) c.407T>A (p.Val136Glu) c.242T>A (p.Val81Glu) c.643T>A c.1541T>A (p.Val514Glu) c.1532T>A (p.Val511Glu) c.1559T>A (p.Val520Glu) c.1556T>A (p.Val519Glu) c.1538T>A (p.Val513Glu) c.1481T>A (p.Val494Glu) c.-20T>A (n.-20T>A) c.1529T>A (p.Val510Glu) c.1535T>A (p.Val512Glu) c.1451T>A (p.Val484Glu) c.1379T>A (p.Val460Glu) c.674T>A (p.Val225Glu) | |
| 9 | g.137762723T>C | CA375768927 | EHMT1 | c.1550T>C (p.Val517Ala) c.1436T>C (p.Val479Ala) c.1457T>C (p.Val486Ala) c.1590T>C (n.1590T>C) c.1495T>C c.1177T>C c.719T>C (p.Val240Ala) c.*1285T>C (n.*1285T>C) c.407T>C (p.Val136Ala) c.242T>C (p.Val81Ala) c.643T>C c.1541T>C (p.Val514Ala) c.1532T>C (p.Val511Ala) c.1559T>C (p.Val520Ala) c.1556T>C (p.Val519Ala) c.1538T>C (p.Val513Ala) c.1481T>C (p.Val494Ala) c.-20T>C (n.-20T>C) c.1529T>C (p.Val510Ala) c.1535T>C (p.Val512Ala) c.1451T>C (p.Val484Ala) c.1379T>C (p.Val460Ala) c.674T>C (p.Val225Ala) | |
| 9 | g.137762723T>G | CA375768932 | EHMT1 | c.1550T>G (p.Val517Gly) c.1436T>G (p.Val479Gly) c.1457T>G (p.Val486Gly) c.1590T>G (n.1590T>G) c.1495T>G c.1177T>G c.719T>G (p.Val240Gly) c.*1285T>G (n.*1285T>G) c.407T>G (p.Val136Gly) c.242T>G (p.Val81Gly) c.643T>G c.1541T>G (p.Val514Gly) c.1532T>G (p.Val511Gly) c.1559T>G (p.Val520Gly) c.1556T>G (p.Val519Gly) c.1538T>G (p.Val513Gly) c.1481T>G (p.Val494Gly) c.-20T>G (n.-20T>G) c.1529T>G (p.Val510Gly) c.1535T>G (p.Val512Gly) c.1451T>G (p.Val484Gly) c.1379T>G (p.Val460Gly) c.674T>G (p.Val225Gly) | |
| 9 | g.137762724G>A | CA467873876 | EHMT1 | c.1551G>A (p.Val517=) c.1437G>A (p.Val479=) c.1458G>A (p.Val486=) c.1591G>A (n.1591G>A) c.1496G>A c.1178G>A c.720G>A (p.Val240=) c.*1286G>A (n.*1286G>A) c.408G>A (p.Val136=) c.243G>A (p.Val81=) c.644G>A c.1542G>A (p.Val514=) c.1533G>A (p.Val511=) c.1560G>A (p.Val520=) c.1557G>A (p.Val519=) c.1539G>A (p.Val513=) c.1482G>A (p.Val494=) c.-19G>A (n.-19G>A) c.1530G>A (p.Val510=) c.1536G>A (p.Val512=) c.1452G>A (p.Val484=) c.1380G>A (p.Val460=) c.675G>A (p.Val225=) | |
| 9 | g.137762724G>C | CA467873878 | EHMT1 | c.1551G>C (p.Val517=) c.1437G>C (p.Val479=) c.1458G>C (p.Val486=) c.1591G>C (n.1591G>C) c.1496G>C c.1178G>C c.720G>C (p.Val240=) c.*1286G>C (n.*1286G>C) c.408G>C (p.Val136=) c.243G>C (p.Val81=) c.644G>C c.1542G>C (p.Val514=) c.1533G>C (p.Val511=) c.1560G>C (p.Val520=) c.1557G>C (p.Val519=) c.1539G>C (p.Val513=) c.1482G>C (p.Val494=) c.-19G>C (n.-19G>C) c.1530G>C (p.Val510=) c.1536G>C (p.Val512=) c.1452G>C (p.Val484=) c.1380G>C (p.Val460=) c.675G>C (p.Val225=) | |
| 9 | g.137762724G>T | CA467873877 | EHMT1 | c.1551G>T (p.Val517=) c.1437G>T (p.Val479=) c.1458G>T (p.Val486=) c.1591G>T (n.1591G>T) c.1496G>T c.1178G>T c.720G>T (p.Val240=) c.*1286G>T (n.*1286G>T) c.408G>T (p.Val136=) c.243G>T (p.Val81=) c.644G>T c.1542G>T (p.Val514=) c.1533G>T (p.Val511=) c.1560G>T (p.Val520=) c.1557G>T (p.Val519=) c.1539G>T (p.Val513=) c.1482G>T (p.Val494=) c.-19G>T (n.-19G>T) c.1530G>T (p.Val510=) c.1536G>T (p.Val512=) c.1452G>T (p.Val484=) c.1380G>T (p.Val460=) c.675G>T (p.Val225=) | |
| 9 | g.137762725C>A | CA375768935 | EHMT1 | c.1552C>A (p.Pro518Thr) c.1438C>A (p.Pro480Thr) c.1459C>A (p.Pro487Thr) c.1592C>A (n.1592C>A) c.1497C>A c.1179C>A c.721C>A (p.Pro241Thr) c.*1287C>A (n.*1287C>A) c.409C>A (p.Pro137Thr) c.244C>A (p.Pro82Thr) c.645C>A c.1543C>A (p.Pro515Thr) c.1534C>A (p.Pro512Thr) c.1561C>A (p.Pro521Thr) c.1558C>A (p.Pro520Thr) c.1540C>A (p.Pro514Thr) c.1483C>A (p.Pro495Thr) c.-18C>A (n.-18C>A) c.1531C>A (p.Pro511Thr) c.1537C>A (p.Pro513Thr) c.1453C>A (p.Pro485Thr) c.1381C>A (p.Pro461Thr) c.676C>A (p.Pro226Thr) | |
| 9 | g.137762725C>G | CA375768938 | EHMT1 | c.1552C>G (p.Pro518Ala) c.1438C>G (p.Pro480Ala) c.1459C>G (p.Pro487Ala) c.1592C>G (n.1592C>G) c.1497C>G c.1179C>G c.721C>G (p.Pro241Ala) c.*1287C>G (n.*1287C>G) c.409C>G (p.Pro137Ala) c.244C>G (p.Pro82Ala) c.645C>G c.1543C>G (p.Pro515Ala) c.1534C>G (p.Pro512Ala) c.1561C>G (p.Pro521Ala) c.1558C>G (p.Pro520Ala) c.1540C>G (p.Pro514Ala) c.1483C>G (p.Pro495Ala) c.-18C>G (n.-18C>G) c.1531C>G (p.Pro511Ala) c.1537C>G (p.Pro513Ala) c.1453C>G (p.Pro485Ala) c.1381C>G (p.Pro461Ala) c.676C>G (p.Pro226Ala) | |
| 9 | g.137762725C>T | CA375768940 | EHMT1 | c.1552C>T (p.Pro518Ser) c.1438C>T (p.Pro480Ser) c.1459C>T (p.Pro487Ser) c.1592C>T (n.1592C>T) c.1497C>T c.1179C>T c.721C>T (p.Pro241Ser) c.*1287C>T (n.*1287C>T) c.409C>T (p.Pro137Ser) c.244C>T (p.Pro82Ser) c.645C>T c.1543C>T (p.Pro515Ser) c.1534C>T (p.Pro512Ser) c.1561C>T (p.Pro521Ser) c.1558C>T (p.Pro520Ser) c.1540C>T (p.Pro514Ser) c.1483C>T (p.Pro495Ser) c.-18C>T (n.-18C>T) c.1531C>T (p.Pro511Ser) c.1537C>T (p.Pro513Ser) c.1453C>T (p.Pro485Ser) c.1381C>T (p.Pro461Ser) c.676C>T (p.Pro226Ser) | |
| 9 | g.137762726C>A | CA375768962 | EHMT1 | c.1553C>A (p.Pro518His) c.1439C>A (p.Pro480His) c.1460C>A (p.Pro487His) c.1593C>A (n.1593C>A) c.1498C>A c.1180C>A c.722C>A (p.Pro241His) c.*1288C>A (n.*1288C>A) c.410C>A (p.Pro137His) c.245C>A (p.Pro82His) c.646C>A c.1544C>A (p.Pro515His) c.1535C>A (p.Pro512His) c.1562C>A (p.Pro521His) c.1559C>A (p.Pro520His) c.1541C>A (p.Pro514His) c.1484C>A (p.Pro495His) c.-17C>A (n.-17C>A) c.1532C>A (p.Pro511His) c.1538C>A (p.Pro513His) c.1454C>A (p.Pro485His) c.1382C>A (p.Pro461His) c.677C>A (p.Pro226His) | |
| 9 | g.137762726C= | CA1884659570 | EHMT1 | c.1553C= (p.Pro518=) c.1439C= (p.Pro480=) c.1460C= (p.Pro487=) c.1593C= (n.1593C=) c.1498C= c.1180C= c.722C= (p.Pro241=) c.*1288C= (n.*1288C=) c.410C= (p.Pro137=) c.245C= (p.Pro82=) c.646C= c.1544C= (p.Pro515=) c.1535C= (p.Pro512=) c.1562C= (p.Pro521=) c.1559C= (p.Pro520=) c.1541C= (p.Pro514=) c.1484C= (p.Pro495=) c.-17C= (n.-17C=) c.1532C= (p.Pro511=) c.1538C= (p.Pro513=) c.1454C= (p.Pro485=) c.1382C= (p.Pro461=) c.677C= (p.Pro226=) | |
| 9 | g.137762726C>G | CA375768965 | EHMT1 | c.1553C>G (p.Pro518Arg) c.1439C>G (p.Pro480Arg) c.1460C>G (p.Pro487Arg) c.1593C>G (n.1593C>G) c.1498C>G c.1180C>G c.722C>G (p.Pro241Arg) c.*1288C>G (n.*1288C>G) c.410C>G (p.Pro137Arg) c.245C>G (p.Pro82Arg) c.646C>G c.1544C>G (p.Pro515Arg) c.1535C>G (p.Pro512Arg) c.1562C>G (p.Pro521Arg) c.1559C>G (p.Pro520Arg) c.1541C>G (p.Pro514Arg) c.1484C>G (p.Pro495Arg) c.-17C>G (n.-17C>G) c.1532C>G (p.Pro511Arg) c.1538C>G (p.Pro513Arg) c.1454C>G (p.Pro485Arg) c.1382C>G (p.Pro461Arg) c.677C>G (p.Pro226Arg) | ClinVar dbSNP |
| 9 | g.137762726C>T | CA375768945 | EHMT1 | c.1553C>T (p.Pro518Leu) c.1439C>T (p.Pro480Leu) c.1460C>T (p.Pro487Leu) c.1593C>T (n.1593C>T) c.1498C>T c.1180C>T c.722C>T (p.Pro241Leu) c.*1288C>T (n.*1288C>T) c.410C>T (p.Pro137Leu) c.245C>T (p.Pro82Leu) c.646C>T c.1544C>T (p.Pro515Leu) c.1535C>T (p.Pro512Leu) c.1562C>T (p.Pro521Leu) c.1559C>T (p.Pro520Leu) c.1541C>T (p.Pro514Leu) c.1484C>T (p.Pro495Leu) c.-17C>T (n.-17C>T) c.1532C>T (p.Pro511Leu) c.1538C>T (p.Pro513Leu) c.1454C>T (p.Pro485Leu) c.1382C>T (p.Pro461Leu) c.677C>T (p.Pro226Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137762727T>A | CA467873879 | EHMT1 | c.1554T>A (p.Pro518=) c.1440T>A (p.Pro480=) c.1461T>A (p.Pro487=) c.1594T>A (n.1594T>A) c.1499T>A c.1181T>A c.723T>A (p.Pro241=) c.*1289T>A (n.*1289T>A) c.411T>A (p.Pro137=) c.246T>A (p.Pro82=) c.647T>A c.1545T>A (p.Pro515=) c.1536T>A (p.Pro512=) c.1563T>A (p.Pro521=) c.1560T>A (p.Pro520=) c.1542T>A (p.Pro514=) c.1485T>A (p.Pro495=) c.-16T>A (n.-16T>A) c.1533T>A (p.Pro511=) c.1539T>A (p.Pro513=) c.1455T>A (p.Pro485=) c.1383T>A (p.Pro461=) c.678T>A (p.Pro226=) | |
| 9 | g.137762727T>C | CA467873880 | EHMT1 | c.1554T>C (p.Pro518=) c.1440T>C (p.Pro480=) c.1461T>C (p.Pro487=) c.1594T>C (n.1594T>C) c.1499T>C c.1181T>C c.723T>C (p.Pro241=) c.*1289T>C (n.*1289T>C) c.411T>C (p.Pro137=) c.246T>C (p.Pro82=) c.647T>C c.1545T>C (p.Pro515=) c.1536T>C (p.Pro512=) c.1563T>C (p.Pro521=) c.1560T>C (p.Pro520=) c.1542T>C (p.Pro514=) c.1485T>C (p.Pro495=) c.-16T>C (n.-16T>C) c.1533T>C (p.Pro511=) c.1539T>C (p.Pro513=) c.1455T>C (p.Pro485=) c.1383T>C (p.Pro461=) c.678T>C (p.Pro226=) | |
| 9 | g.137762727T>G | CA467873881 | EHMT1 | c.1554T>G (p.Pro518=) c.1440T>G (p.Pro480=) c.1461T>G (p.Pro487=) c.1594T>G (n.1594T>G) c.1499T>G c.1181T>G c.723T>G (p.Pro241=) c.*1289T>G (n.*1289T>G) c.411T>G (p.Pro137=) c.246T>G (p.Pro82=) c.647T>G c.1545T>G (p.Pro515=) c.1536T>G (p.Pro512=) c.1563T>G (p.Pro521=) c.1560T>G (p.Pro520=) c.1542T>G (p.Pro514=) c.1485T>G (p.Pro495=) c.-16T>G (n.-16T>G) c.1533T>G (p.Pro511=) c.1539T>G (p.Pro513=) c.1455T>G (p.Pro485=) c.1383T>G (p.Pro461=) c.678T>G (p.Pro226=) | |
| 9 | g.137762728C>A | CA375768973 | EHMT1 | c.1555C>A (p.Leu519Ile) c.1441C>A (p.Leu481Ile) c.1462C>A (p.Leu488Ile) c.1595C>A (n.1595C>A) c.1500C>A c.1182C>A c.724C>A (p.Leu242Ile) c.*1290C>A (n.*1290C>A) c.412C>A (p.Leu138Ile) c.247C>A (p.Leu83Ile) c.648C>A c.1546C>A (p.Leu516Ile) c.1537C>A (p.Leu513Ile) c.1564C>A (p.Leu522Ile) c.1561C>A (p.Leu521Ile) c.1543C>A (p.Leu515Ile) c.1486C>A (p.Leu496Ile) c.-15C>A (n.-15C>A) c.1534C>A (p.Leu512Ile) c.1540C>A (p.Leu514Ile) c.1456C>A (p.Leu486Ile) c.1384C>A (p.Leu462Ile) c.679C>A (p.Leu227Ile) | |
| 9 | g.137762728C>G | CA375768971 | EHMT1 | c.1555C>G (p.Leu519Val) c.1441C>G (p.Leu481Val) c.1462C>G (p.Leu488Val) c.1595C>G (n.1595C>G) c.1500C>G c.1182C>G c.724C>G (p.Leu242Val) c.*1290C>G (n.*1290C>G) c.412C>G (p.Leu138Val) c.247C>G (p.Leu83Val) c.648C>G c.1546C>G (p.Leu516Val) c.1537C>G (p.Leu513Val) c.1564C>G (p.Leu522Val) c.1561C>G (p.Leu521Val) c.1543C>G (p.Leu515Val) c.1486C>G (p.Leu496Val) c.-15C>G (n.-15C>G) c.1534C>G (p.Leu512Val) c.1540C>G (p.Leu514Val) c.1456C>G (p.Leu486Val) c.1384C>G (p.Leu462Val) c.679C>G (p.Leu227Val) | gnomAD v4 |
| 9 | g.137762728C>T | CA375768972 | EHMT1 | c.1555C>T (p.Leu519Phe) c.1441C>T (p.Leu481Phe) c.1462C>T (p.Leu488Phe) c.1595C>T (n.1595C>T) c.1500C>T c.1182C>T c.724C>T (p.Leu242Phe) c.*1290C>T (n.*1290C>T) c.412C>T (p.Leu138Phe) c.247C>T (p.Leu83Phe) c.648C>T c.1546C>T (p.Leu516Phe) c.1537C>T (p.Leu513Phe) c.1564C>T (p.Leu522Phe) c.1561C>T (p.Leu521Phe) c.1543C>T (p.Leu515Phe) c.1486C>T (p.Leu496Phe) c.-15C>T (n.-15C>T) c.1534C>T (p.Leu512Phe) c.1540C>T (p.Leu514Phe) c.1456C>T (p.Leu486Phe) c.1384C>T (p.Leu462Phe) c.679C>T (p.Leu227Phe) | |
| 9 | g.137762729T>A | CA375768975 | EHMT1 | c.1556T>A (p.Leu519His) c.1442T>A (p.Leu481His) c.1463T>A (p.Leu488His) c.1596T>A (n.1596T>A) c.1501T>A c.1183T>A c.725T>A (p.Leu242His) c.*1291T>A (n.*1291T>A) c.413T>A (p.Leu138His) c.248T>A (p.Leu83His) c.649T>A c.1547T>A (p.Leu516His) c.1538T>A (p.Leu513His) c.1565T>A (p.Leu522His) c.1562T>A (p.Leu521His) c.1544T>A (p.Leu515His) c.1487T>A (p.Leu496His) c.-14T>A (n.-14T>A) c.1535T>A (p.Leu512His) c.1541T>A (p.Leu514His) c.1457T>A (p.Leu486His) c.1385T>A (p.Leu462His) c.680T>A (p.Leu227His) | |
| 9 | g.137762729T>C | CA375768983 | EHMT1 | c.1556T>C (p.Leu519Pro) c.1442T>C (p.Leu481Pro) c.1463T>C (p.Leu488Pro) c.1596T>C (n.1596T>C) c.1501T>C c.1183T>C c.725T>C (p.Leu242Pro) c.*1291T>C (n.*1291T>C) c.413T>C (p.Leu138Pro) c.248T>C (p.Leu83Pro) c.649T>C c.1547T>C (p.Leu516Pro) c.1538T>C (p.Leu513Pro) c.1565T>C (p.Leu522Pro) c.1562T>C (p.Leu521Pro) c.1544T>C (p.Leu515Pro) c.1487T>C (p.Leu496Pro) c.-14T>C (n.-14T>C) c.1535T>C (p.Leu512Pro) c.1541T>C (p.Leu514Pro) c.1457T>C (p.Leu486Pro) c.1385T>C (p.Leu462Pro) c.680T>C (p.Leu227Pro) | |
| 9 | g.137762729T>G | CA375768989 | EHMT1 | c.1556T>G (p.Leu519Arg) c.1442T>G (p.Leu481Arg) c.1463T>G (p.Leu488Arg) c.1596T>G (n.1596T>G) c.1501T>G c.1183T>G c.725T>G (p.Leu242Arg) c.*1291T>G (n.*1291T>G) c.413T>G (p.Leu138Arg) c.248T>G (p.Leu83Arg) c.649T>G c.1547T>G (p.Leu516Arg) c.1538T>G (p.Leu513Arg) c.1565T>G (p.Leu522Arg) c.1562T>G (p.Leu521Arg) c.1544T>G (p.Leu515Arg) c.1487T>G (p.Leu496Arg) c.-14T>G (n.-14T>G) c.1535T>G (p.Leu512Arg) c.1541T>G (p.Leu514Arg) c.1457T>G (p.Leu486Arg) c.1385T>G (p.Leu462Arg) c.680T>G (p.Leu227Arg) | |
| 9 | g.137762730C>A | CA467873882 | EHMT1 | c.1557C>A (p.Leu519=) c.1443C>A (p.Leu481=) c.1464C>A (p.Leu488=) c.1597C>A (n.1597C>A) c.1502C>A c.1184C>A c.726C>A (p.Leu242=) c.*1292C>A (n.*1292C>A) c.414C>A (p.Leu138=) c.249C>A (p.Leu83=) c.650C>A c.1548C>A (p.Leu516=) c.1539C>A (p.Leu513=) c.1566C>A (p.Leu522=) c.1563C>A (p.Leu521=) c.1545C>A (p.Leu515=) c.1488C>A (p.Leu496=) c.-13C>A (n.-13C>A) c.1536C>A (p.Leu512=) c.1542C>A (p.Leu514=) c.1458C>A (p.Leu486=) c.1386C>A (p.Leu462=) c.681C>A (p.Leu227=) | |
| 9 | g.137762730C= | CA1884659571 | EHMT1 | c.1557C= (p.Leu519=) c.1443C= (p.Leu481=) c.1464C= (p.Leu488=) c.1597C= (n.1597C=) c.1502C= c.1184C= c.726C= (p.Leu242=) c.*1292C= (n.*1292C=) c.414C= (p.Leu138=) c.249C= (p.Leu83=) c.650C= c.1548C= (p.Leu516=) c.1539C= (p.Leu513=) c.1566C= (p.Leu522=) c.1563C= (p.Leu521=) c.1545C= (p.Leu515=) c.1488C= (p.Leu496=) c.-13C= (n.-13C=) c.1536C= (p.Leu512=) c.1542C= (p.Leu514=) c.1458C= (p.Leu486=) c.1386C= (p.Leu462=) c.681C= (p.Leu227=) | |
| 9 | g.137762730C>G | CA467873883 | EHMT1 | c.1557C>G (p.Leu519=) c.1443C>G (p.Leu481=) c.1464C>G (p.Leu488=) c.1597C>G (n.1597C>G) c.1502C>G c.1184C>G c.726C>G (p.Leu242=) c.*1292C>G (n.*1292C>G) c.414C>G (p.Leu138=) c.249C>G (p.Leu83=) c.650C>G c.1548C>G (p.Leu516=) c.1539C>G (p.Leu513=) c.1566C>G (p.Leu522=) c.1563C>G (p.Leu521=) c.1545C>G (p.Leu515=) c.1488C>G (p.Leu496=) c.-13C>G (n.-13C>G) c.1536C>G (p.Leu512=) c.1542C>G (p.Leu514=) c.1458C>G (p.Leu486=) c.1386C>G (p.Leu462=) c.681C>G (p.Leu227=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.137762730C>T | CA467873884 | EHMT1 | c.1557C>T (p.Leu519=) c.1443C>T (p.Leu481=) c.1464C>T (p.Leu488=) c.1597C>T (n.1597C>T) c.1502C>T c.1184C>T c.726C>T (p.Leu242=) c.*1292C>T (n.*1292C>T) c.414C>T (p.Leu138=) c.249C>T (p.Leu83=) c.650C>T c.1548C>T (p.Leu516=) c.1539C>T (p.Leu513=) c.1566C>T (p.Leu522=) c.1563C>T (p.Leu521=) c.1545C>T (p.Leu515=) c.1488C>T (p.Leu496=) c.-13C>T (n.-13C>T) c.1536C>T (p.Leu512=) c.1542C>T (p.Leu514=) c.1458C>T (p.Leu486=) c.1386C>T (p.Leu462=) c.681C>T (p.Leu227=) | ClinVar |
| 9 | g.137762731T>A | CA375768992 | EHMT1 | c.1558T>A (p.Cys520Ser) c.1444T>A (p.Cys482Ser) c.1465T>A (p.Cys489Ser) c.1598T>A (n.1598T>A) c.1503T>A c.1185T>A c.727T>A (p.Cys243Ser) c.*1293T>A (n.*1293T>A) c.415T>A (p.Cys139Ser) c.250T>A (p.Cys84Ser) c.651T>A c.1549T>A (p.Cys517Ser) c.1540T>A (p.Cys514Ser) c.1567T>A (p.Cys523Ser) c.1564T>A (p.Cys522Ser) c.1546T>A (p.Cys516Ser) c.1489T>A (p.Cys497Ser) c.-12T>A (n.-12T>A) c.1537T>A (p.Cys513Ser) c.1543T>A (p.Cys515Ser) c.1459T>A (p.Cys487Ser) c.1387T>A (p.Cys463Ser) c.682T>A (p.Cys228Ser) | |
| 9 | g.137762731T>C | CA375768995 | EHMT1 | c.1558T>C (p.Cys520Arg) c.1444T>C (p.Cys482Arg) c.1465T>C (p.Cys489Arg) c.1598T>C (n.1598T>C) c.1503T>C c.1185T>C c.727T>C (p.Cys243Arg) c.*1293T>C (n.*1293T>C) c.415T>C (p.Cys139Arg) c.250T>C (p.Cys84Arg) c.651T>C c.1549T>C (p.Cys517Arg) c.1540T>C (p.Cys514Arg) c.1567T>C (p.Cys523Arg) c.1564T>C (p.Cys522Arg) c.1546T>C (p.Cys516Arg) c.1489T>C (p.Cys497Arg) c.-12T>C (n.-12T>C) c.1537T>C (p.Cys513Arg) c.1543T>C (p.Cys515Arg) c.1459T>C (p.Cys487Arg) c.1387T>C (p.Cys463Arg) c.682T>C (p.Cys228Arg) | |
| 9 | g.137762731T>G | CA375769003 | EHMT1 | c.1558T>G (p.Cys520Gly) c.1444T>G (p.Cys482Gly) c.1465T>G (p.Cys489Gly) c.1598T>G (n.1598T>G) c.1503T>G c.1185T>G c.727T>G (p.Cys243Gly) c.*1293T>G (n.*1293T>G) c.415T>G (p.Cys139Gly) c.250T>G (p.Cys84Gly) c.651T>G c.1549T>G (p.Cys517Gly) c.1540T>G (p.Cys514Gly) c.1567T>G (p.Cys523Gly) c.1564T>G (p.Cys522Gly) c.1546T>G (p.Cys516Gly) c.1489T>G (p.Cys497Gly) c.-12T>G (n.-12T>G) c.1537T>G (p.Cys513Gly) c.1543T>G (p.Cys515Gly) c.1459T>G (p.Cys487Gly) c.1387T>G (p.Cys463Gly) c.682T>G (p.Cys228Gly) | |
| 9 | g.137762732G>A | CA375769016 | EHMT1 | c.1559G>A (p.Cys520Tyr) c.1445G>A (p.Cys482Tyr) c.1466G>A (p.Cys489Tyr) c.1599G>A (n.1599G>A) c.1504G>A c.1186G>A c.728G>A (p.Cys243Tyr) c.*1294G>A (n.*1294G>A) c.416G>A (p.Cys139Tyr) c.251G>A (p.Cys84Tyr) c.652G>A c.1550G>A (p.Cys517Tyr) c.1541G>A (p.Cys514Tyr) c.1568G>A (p.Cys523Tyr) c.1565G>A (p.Cys522Tyr) c.1547G>A (p.Cys516Tyr) c.1490G>A (p.Cys497Tyr) c.-11G>A (n.-11G>A) c.1538G>A (p.Cys513Tyr) c.1544G>A (p.Cys515Tyr) c.1460G>A (p.Cys487Tyr) c.1388G>A (p.Cys463Tyr) c.683G>A (p.Cys228Tyr) | |
| 9 | g.137762732G>C | CA375769018 | EHMT1 | c.1559G>C (p.Cys520Ser) c.1445G>C (p.Cys482Ser) c.1466G>C (p.Cys489Ser) c.1599G>C (n.1599G>C) c.1504G>C c.1186G>C c.728G>C (p.Cys243Ser) c.*1294G>C (n.*1294G>C) c.416G>C (p.Cys139Ser) c.251G>C (p.Cys84Ser) c.652G>C c.1550G>C (p.Cys517Ser) c.1541G>C (p.Cys514Ser) c.1568G>C (p.Cys523Ser) c.1565G>C (p.Cys522Ser) c.1547G>C (p.Cys516Ser) c.1490G>C (p.Cys497Ser) c.-11G>C (n.-11G>C) c.1538G>C (p.Cys513Ser) c.1544G>C (p.Cys515Ser) c.1460G>C (p.Cys487Ser) c.1388G>C (p.Cys463Ser) c.683G>C (p.Cys228Ser) | |
| 9 | g.137762732G>T | CA375769020 | EHMT1 | c.1559G>T (p.Cys520Phe) c.1445G>T (p.Cys482Phe) c.1466G>T (p.Cys489Phe) c.1599G>T (n.1599G>T) c.1504G>T c.1186G>T c.728G>T (p.Cys243Phe) c.*1294G>T (n.*1294G>T) c.416G>T (p.Cys139Phe) c.251G>T (p.Cys84Phe) c.652G>T c.1550G>T (p.Cys517Phe) c.1541G>T (p.Cys514Phe) c.1568G>T (p.Cys523Phe) c.1565G>T (p.Cys522Phe) c.1547G>T (p.Cys516Phe) c.1490G>T (p.Cys497Phe) c.-11G>T (n.-11G>T) c.1538G>T (p.Cys513Phe) c.1544G>T (p.Cys515Phe) c.1460G>T (p.Cys487Phe) c.1388G>T (p.Cys463Phe) c.683G>T (p.Cys228Phe) | |
| 9 | g.137762733C>A | CA375769023 | EHMT1 | c.1560C>A (p.Cys520Ter) c.1446C>A (p.Cys482Ter) c.1467C>A (p.Cys489Ter) c.1600C>A (n.1600C>A) c.1505C>A c.1187C>A c.729C>A (p.Cys243Ter) c.*1295C>A (n.*1295C>A) c.417C>A (p.Cys139Ter) c.252C>A (p.Cys84Ter) c.653C>A c.1551C>A (p.Cys517Ter) c.1542C>A (p.Cys514Ter) c.1569C>A (p.Cys523Ter) c.1566C>A (p.Cys522Ter) c.1548C>A (p.Cys516Ter) c.1491C>A (p.Cys497Ter) c.-10C>A (n.-10C>A) c.1539C>A (p.Cys513Ter) c.1545C>A (p.Cys515Ter) c.1461C>A (p.Cys487Ter) c.1389C>A (p.Cys463Ter) c.684C>A (p.Cys228Ter) | |
| 9 | g.137762733C>G | CA375769024 | EHMT1 | c.1560C>G (p.Cys520Trp) c.1446C>G (p.Cys482Trp) c.1467C>G (p.Cys489Trp) c.1600C>G (n.1600C>G) c.1505C>G c.1187C>G c.729C>G (p.Cys243Trp) c.*1295C>G (n.*1295C>G) c.417C>G (p.Cys139Trp) c.252C>G (p.Cys84Trp) c.653C>G c.1551C>G (p.Cys517Trp) c.1542C>G (p.Cys514Trp) c.1569C>G (p.Cys523Trp) c.1566C>G (p.Cys522Trp) c.1548C>G (p.Cys516Trp) c.1491C>G (p.Cys497Trp) c.-10C>G (n.-10C>G) c.1539C>G (p.Cys513Trp) c.1545C>G (p.Cys515Trp) c.1461C>G (p.Cys487Trp) c.1389C>G (p.Cys463Trp) c.684C>G (p.Cys228Trp) | |
| 9 | g.137762733C>T | CA467873885 | EHMT1 | c.1560C>T (p.Cys520=) c.1446C>T (p.Cys482=) c.1467C>T (p.Cys489=) c.1600C>T (n.1600C>T) c.1505C>T c.1187C>T c.729C>T (p.Cys243=) c.*1295C>T (n.*1295C>T) c.417C>T (p.Cys139=) c.252C>T (p.Cys84=) c.653C>T c.1551C>T (p.Cys517=) c.1542C>T (p.Cys514=) c.1569C>T (p.Cys523=) c.1566C>T (p.Cys522=) c.1548C>T (p.Cys516=) c.1491C>T (p.Cys497=) c.-10C>T (n.-10C>T) c.1539C>T (p.Cys513=) c.1545C>T (p.Cys515=) c.1461C>T (p.Cys487=) c.1389C>T (p.Cys463=) c.684C>T (p.Cys228=) | |
| 9 | g.137762734A>C | CA375769032 | EHMT1 | c.1561A>C (p.Ser521Arg) c.1447A>C (p.Ser483Arg) c.1468A>C (p.Ser490Arg) c.1601A>C (n.1601A>C) c.1506A>C c.1188A>C c.730A>C (p.Ser244Arg) c.*1296A>C (n.*1296A>C) c.418A>C (p.Ser140Arg) c.253A>C (p.Ser85Arg) c.654A>C c.1552A>C (p.Ser518Arg) c.1543A>C (p.Ser515Arg) c.1570A>C (p.Ser524Arg) c.1567A>C (p.Ser523Arg) c.1549A>C (p.Ser517Arg) c.1492A>C (p.Ser498Arg) c.-9A>C (n.-9A>C) c.1540A>C (p.Ser514Arg) c.1546A>C (p.Ser516Arg) c.1462A>C (p.Ser488Arg) c.1390A>C (p.Ser464Arg) c.685A>C (p.Ser229Arg) | |
| 9 | g.137762734A>G | CA375769034 | EHMT1 | c.1561A>G (p.Ser521Gly) c.1447A>G (p.Ser483Gly) c.1468A>G (p.Ser490Gly) c.1601A>G (n.1601A>G) c.1506A>G c.1188A>G c.730A>G (p.Ser244Gly) c.*1296A>G (n.*1296A>G) c.418A>G (p.Ser140Gly) c.253A>G (p.Ser85Gly) c.654A>G c.1552A>G (p.Ser518Gly) c.1543A>G (p.Ser515Gly) c.1570A>G (p.Ser524Gly) c.1567A>G (p.Ser523Gly) c.1549A>G (p.Ser517Gly) c.1492A>G (p.Ser498Gly) c.-9A>G (n.-9A>G) c.1540A>G (p.Ser514Gly) c.1546A>G (p.Ser516Gly) c.1462A>G (p.Ser488Gly) c.1390A>G (p.Ser464Gly) c.685A>G (p.Ser229Gly) | |
| 9 | g.137762734A>T | CA375769027 | EHMT1 | c.1561A>T (p.Ser521Cys) c.1447A>T (p.Ser483Cys) c.1468A>T (p.Ser490Cys) c.1601A>T (n.1601A>T) c.1506A>T c.1188A>T c.730A>T (p.Ser244Cys) c.*1296A>T (n.*1296A>T) c.418A>T (p.Ser140Cys) c.253A>T (p.Ser85Cys) c.654A>T c.1552A>T (p.Ser518Cys) c.1543A>T (p.Ser515Cys) c.1570A>T (p.Ser524Cys) c.1567A>T (p.Ser523Cys) c.1549A>T (p.Ser517Cys) c.1492A>T (p.Ser498Cys) c.-9A>T (n.-9A>T) c.1540A>T (p.Ser514Cys) c.1546A>T (p.Ser516Cys) c.1462A>T (p.Ser488Cys) c.1390A>T (p.Ser464Cys) c.685A>T (p.Ser229Cys) | |
| 9 | g.137762735G>A | CA375769035 | EHMT1 | c.1562G>A (p.Ser521Asn) c.1448G>A (p.Ser483Asn) c.1469G>A (p.Ser490Asn) c.1602G>A (n.1602G>A) c.1507G>A c.1189G>A c.731G>A (p.Ser244Asn) c.*1297G>A (n.*1297G>A) c.419G>A (p.Ser140Asn) c.254G>A (p.Ser85Asn) c.655G>A c.1553G>A (p.Ser518Asn) c.1544G>A (p.Ser515Asn) c.1571G>A (p.Ser524Asn) c.1568G>A (p.Ser523Asn) c.1550G>A (p.Ser517Asn) c.1493G>A (p.Ser498Asn) c.-8G>A (n.-8G>A) c.1541G>A (p.Ser514Asn) c.1547G>A (p.Ser516Asn) c.1463G>A (p.Ser488Asn) c.1391G>A (p.Ser464Asn) c.686G>A (p.Ser229Asn) | |
| 9 | g.137762735G>C | CA375769036 | EHMT1 | c.1562G>C (p.Ser521Thr) c.1448G>C (p.Ser483Thr) c.1469G>C (p.Ser490Thr) c.1602G>C (n.1602G>C) c.1507G>C c.1189G>C c.731G>C (p.Ser244Thr) c.*1297G>C (n.*1297G>C) c.419G>C (p.Ser140Thr) c.254G>C (p.Ser85Thr) c.655G>C c.1553G>C (p.Ser518Thr) c.1544G>C (p.Ser515Thr) c.1571G>C (p.Ser524Thr) c.1568G>C (p.Ser523Thr) c.1550G>C (p.Ser517Thr) c.1493G>C (p.Ser498Thr) c.-8G>C (n.-8G>C) c.1541G>C (p.Ser514Thr) c.1547G>C (p.Ser516Thr) c.1463G>C (p.Ser488Thr) c.1391G>C (p.Ser464Thr) c.686G>C (p.Ser229Thr) | |
| 9 | g.137762735G>T | CA375769037 | EHMT1 | c.1562G>T (p.Ser521Ile) c.1448G>T (p.Ser483Ile) c.1469G>T (p.Ser490Ile) c.1602G>T (n.1602G>T) c.1507G>T c.1189G>T c.731G>T (p.Ser244Ile) c.*1297G>T (n.*1297G>T) c.419G>T (p.Ser140Ile) c.254G>T (p.Ser85Ile) c.655G>T c.1553G>T (p.Ser518Ile) c.1544G>T (p.Ser515Ile) c.1571G>T (p.Ser524Ile) c.1568G>T (p.Ser523Ile) c.1550G>T (p.Ser517Ile) c.1493G>T (p.Ser498Ile) c.-8G>T (n.-8G>T) c.1541G>T (p.Ser514Ile) c.1547G>T (p.Ser516Ile) c.1463G>T (p.Ser488Ile) c.1391G>T (p.Ser464Ile) c.686G>T (p.Ser229Ile) | |
| 9 | g.137762736C>A | CA375769047 | EHMT1 | c.1563C>A (p.Ser521Arg) c.1449C>A (p.Ser483Arg) c.1470C>A (p.Ser490Arg) c.1603C>A (n.1603C>A) c.1508C>A c.1190C>A c.732C>A (p.Ser244Arg) c.*1298C>A (n.*1298C>A) c.420C>A (p.Ser140Arg) c.255C>A (p.Ser85Arg) c.656C>A c.1554C>A (p.Ser518Arg) c.1545C>A (p.Ser515Arg) c.1572C>A (p.Ser524Arg) c.1569C>A (p.Ser523Arg) c.1551C>A (p.Ser517Arg) c.1494C>A (p.Ser498Arg) c.-7C>A (n.-7C>A) c.1542C>A (p.Ser514Arg) c.1548C>A (p.Ser516Arg) c.1464C>A (p.Ser488Arg) c.1392C>A (p.Ser464Arg) c.687C>A (p.Ser229Arg) | |
| 9 | g.137762736C= | CA1884659572 | EHMT1 | c.1563C= (p.Ser521=) c.1449C= (p.Ser483=) c.1470C= (p.Ser490=) c.1603C= (n.1603C=) c.1508C= c.1190C= c.732C= (p.Ser244=) c.*1298C= (n.*1298C=) c.420C= (p.Ser140=) c.255C= (p.Ser85=) c.656C= c.1554C= (p.Ser518=) c.1545C= (p.Ser515=) c.1572C= (p.Ser524=) c.1569C= (p.Ser523=) c.1551C= (p.Ser517=) c.1494C= (p.Ser498=) c.-7C= (n.-7C=) c.1542C= (p.Ser514=) c.1548C= (p.Ser516=) c.1464C= (p.Ser488=) c.1392C= (p.Ser464=) c.687C= (p.Ser229=) | |
| 9 | g.137762736C>G | CA375769055 | EHMT1 | c.1563C>G (p.Ser521Arg) c.1449C>G (p.Ser483Arg) c.1470C>G (p.Ser490Arg) c.1603C>G (n.1603C>G) c.1508C>G c.1190C>G c.732C>G (p.Ser244Arg) c.*1298C>G (n.*1298C>G) c.420C>G (p.Ser140Arg) c.255C>G (p.Ser85Arg) c.656C>G c.1554C>G (p.Ser518Arg) c.1545C>G (p.Ser515Arg) c.1572C>G (p.Ser524Arg) c.1569C>G (p.Ser523Arg) c.1551C>G (p.Ser517Arg) c.1494C>G (p.Ser498Arg) c.-7C>G (n.-7C>G) c.1542C>G (p.Ser514Arg) c.1548C>G (p.Ser516Arg) c.1464C>G (p.Ser488Arg) c.1392C>G (p.Ser464Arg) c.687C>G (p.Ser229Arg) |