| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.137762669C= | CA1884659541 | EHMT1 | c.1502-6C= (n.1502-6C=) c.1388-6C= (n.1388-6C=) c.1409-6C= (n.1409-6C=) c.1542-6C= (n.1542-6C=) c.1447-6C= c.1129-6C= c.671-6C= (n.671-6C=) c.*1237-6C= (n.*1237-6C=) c.359-6C= (n.359-6C=) c.194-6C= (n.194-6C=) c.595-6C= c.1493-6C= (n.1493-6C=) c.1484-6C= (n.1484-6C=) c.1511-6C= (n.1511-6C=) c.1508-6C= (n.1508-6C=) c.1490-6C= (n.1490-6C=) c.1433-6C= (n.1433-6C=) c.-68-6C= (n.-68-6C=) c.1481-6C= (n.1481-6C=) c.1487-6C= (n.1487-6C=) c.1403-6C= (n.1403-6C=) c.1331-6C= (n.1331-6C=) c.626-6C= (n.626-6C=) | |
| 9 | g.137762669C>T | CA591241126 | EHMT1 | c.1502-6C>T (n.1502-6C>T) c.1388-6C>T (n.1388-6C>T) c.1409-6C>T (n.1409-6C>T) c.1542-6C>T (n.1542-6C>T) c.1447-6C>T c.1129-6C>T c.671-6C>T (n.671-6C>T) c.*1237-6C>T (n.*1237-6C>T) c.359-6C>T (n.359-6C>T) c.194-6C>T (n.194-6C>T) c.595-6C>T c.1493-6C>T (n.1493-6C>T) c.1484-6C>T (n.1484-6C>T) c.1511-6C>T (n.1511-6C>T) c.1508-6C>T (n.1508-6C>T) c.1490-6C>T (n.1490-6C>T) c.1433-6C>T (n.1433-6C>T) c.-68-6C>T (n.-68-6C>T) c.1481-6C>T (n.1481-6C>T) c.1487-6C>T (n.1487-6C>T) c.1403-6C>T (n.1403-6C>T) c.1331-6C>T (n.1331-6C>T) c.626-6C>T (n.626-6C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137762670del | CA2692881774 | EHMT1 | c.1502-5del (n.1502-5del) c.1388-5del (n.1388-5del) c.1409-5del (n.1409-5del) c.1542-5del (n.1542-5del) c.1447-5del c.1129-5del c.671-5del (n.671-5del) c.*1237-5del (n.*1237-5del) c.359-5del (n.359-5del) c.194-5del (n.194-5del) c.595-5del c.1493-5del (n.1493-5del) c.1484-5del (n.1484-5del) c.1511-5del (n.1511-5del) c.1508-5del (n.1508-5del) c.1490-5del (n.1490-5del) c.1433-5del (n.1433-5del) c.-68-5del (n.-68-5del) c.1481-5del (n.1481-5del) c.1487-5del (n.1487-5del) c.1403-5del (n.1403-5del) c.1331-5del (n.1331-5del) c.626-5del (n.626-5del) | gnomAD v4 |
| 9 | g.137762670G>A | CA1884659543 | EHMT1 | c.1502-5G>A (n.1502-5G>A) c.1388-5G>A (n.1388-5G>A) c.1409-5G>A (n.1409-5G>A) c.1542-5G>A (n.1542-5G>A) c.1447-5G>A c.1129-5G>A c.671-5G>A (n.671-5G>A) c.*1237-5G>A (n.*1237-5G>A) c.359-5G>A (n.359-5G>A) c.194-5G>A (n.194-5G>A) c.595-5G>A c.1493-5G>A (n.1493-5G>A) c.1484-5G>A (n.1484-5G>A) c.1511-5G>A (n.1511-5G>A) c.1508-5G>A (n.1508-5G>A) c.1490-5G>A (n.1490-5G>A) c.1433-5G>A (n.1433-5G>A) c.-68-5G>A (n.-68-5G>A) c.1481-5G>A (n.1481-5G>A) c.1487-5G>A (n.1487-5G>A) c.1403-5G>A (n.1403-5G>A) c.1331-5G>A (n.1331-5G>A) c.626-5G>A (n.626-5G>A) | ClinVar dbSNP gnomAD v4 |
| 9 | g.137762670G>C | CA591241127 | EHMT1 | c.1502-5G>C (n.1502-5G>C) c.1388-5G>C (n.1388-5G>C) c.1409-5G>C (n.1409-5G>C) c.1542-5G>C (n.1542-5G>C) c.1447-5G>C c.1129-5G>C c.671-5G>C (n.671-5G>C) c.*1237-5G>C (n.*1237-5G>C) c.359-5G>C (n.359-5G>C) c.194-5G>C (n.194-5G>C) c.595-5G>C c.1493-5G>C (n.1493-5G>C) c.1484-5G>C (n.1484-5G>C) c.1511-5G>C (n.1511-5G>C) c.1508-5G>C (n.1508-5G>C) c.1490-5G>C (n.1490-5G>C) c.1433-5G>C (n.1433-5G>C) c.-68-5G>C (n.-68-5G>C) c.1481-5G>C (n.1481-5G>C) c.1487-5G>C (n.1487-5G>C) c.1403-5G>C (n.1403-5G>C) c.1331-5G>C (n.1331-5G>C) c.626-5G>C (n.626-5G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137762670G= | CA1884659542 | EHMT1 | c.1502-5G= (n.1502-5G=) c.1388-5G= (n.1388-5G=) c.1409-5G= (n.1409-5G=) c.1542-5G= (n.1542-5G=) c.1447-5G= c.1129-5G= c.671-5G= (n.671-5G=) c.*1237-5G= (n.*1237-5G=) c.359-5G= (n.359-5G=) c.194-5G= (n.194-5G=) c.595-5G= c.1493-5G= (n.1493-5G=) c.1484-5G= (n.1484-5G=) c.1511-5G= (n.1511-5G=) c.1508-5G= (n.1508-5G=) c.1490-5G= (n.1490-5G=) c.1433-5G= (n.1433-5G=) c.-68-5G= (n.-68-5G=) c.1481-5G= (n.1481-5G=) c.1487-5G= (n.1487-5G=) c.1403-5G= (n.1403-5G=) c.1331-5G= (n.1331-5G=) c.626-5G= (n.626-5G=) | |
| 9 | g.137762670G>T | CA591241128 | EHMT1 | c.1502-5G>T (n.1502-5G>T) c.1388-5G>T (n.1388-5G>T) c.1409-5G>T (n.1409-5G>T) c.1542-5G>T (n.1542-5G>T) c.1447-5G>T c.1129-5G>T c.671-5G>T (n.671-5G>T) c.*1237-5G>T (n.*1237-5G>T) c.359-5G>T (n.359-5G>T) c.194-5G>T (n.194-5G>T) c.595-5G>T c.1493-5G>T (n.1493-5G>T) c.1484-5G>T (n.1484-5G>T) c.1511-5G>T (n.1511-5G>T) c.1508-5G>T (n.1508-5G>T) c.1490-5G>T (n.1490-5G>T) c.1433-5G>T (n.1433-5G>T) c.-68-5G>T (n.-68-5G>T) c.1481-5G>T (n.1481-5G>T) c.1487-5G>T (n.1487-5G>T) c.1403-5G>T (n.1403-5G>T) c.1331-5G>T (n.1331-5G>T) c.626-5G>T (n.626-5G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137762671T>C | CA1884659545 | EHMT1 | c.1502-4T>C (n.1502-4T>C) c.1388-4T>C (n.1388-4T>C) c.1409-4T>C (n.1409-4T>C) c.1542-4T>C (n.1542-4T>C) c.1447-4T>C c.1129-4T>C c.671-4T>C (n.671-4T>C) c.*1237-4T>C (n.*1237-4T>C) c.359-4T>C (n.359-4T>C) c.194-4T>C (n.194-4T>C) c.595-4T>C c.1493-4T>C (n.1493-4T>C) c.1484-4T>C (n.1484-4T>C) c.1511-4T>C (n.1511-4T>C) c.1508-4T>C (n.1508-4T>C) c.1490-4T>C (n.1490-4T>C) c.1433-4T>C (n.1433-4T>C) c.-68-4T>C (n.-68-4T>C) c.1481-4T>C (n.1481-4T>C) c.1487-4T>C (n.1487-4T>C) c.1403-4T>C (n.1403-4T>C) c.1331-4T>C (n.1331-4T>C) c.626-4T>C (n.626-4T>C) | dbSNP gnomAD v4 |
| 9 | g.137762671T= | CA1884659544 | EHMT1 | c.1502-4T= (n.1502-4T=) c.1388-4T= (n.1388-4T=) c.1409-4T= (n.1409-4T=) c.1542-4T= (n.1542-4T=) c.1447-4T= c.1129-4T= c.671-4T= (n.671-4T=) c.*1237-4T= (n.*1237-4T=) c.359-4T= (n.359-4T=) c.194-4T= (n.194-4T=) c.595-4T= c.1493-4T= (n.1493-4T=) c.1484-4T= (n.1484-4T=) c.1511-4T= (n.1511-4T=) c.1508-4T= (n.1508-4T=) c.1490-4T= (n.1490-4T=) c.1433-4T= (n.1433-4T=) c.-68-4T= (n.-68-4T=) c.1481-4T= (n.1481-4T=) c.1487-4T= (n.1487-4T=) c.1403-4T= (n.1403-4T=) c.1331-4T= (n.1331-4T=) c.626-4T= (n.626-4T=) | |
| 9 | g.137762673A>C | CA375768313 | EHMT1 | c.1502-2A>C (n.1502-2A>C) c.1388-2A>C (n.1388-2A>C) c.1409-2A>C (n.1409-2A>C) c.1542-2A>C (n.1542-2A>C) c.1447-2A>C c.1129-2A>C c.671-2A>C (n.671-2A>C) c.*1237-2A>C (n.*1237-2A>C) c.359-2A>C (n.359-2A>C) c.194-2A>C (n.194-2A>C) c.595-2A>C c.1493-2A>C (n.1493-2A>C) c.1484-2A>C (n.1484-2A>C) c.1511-2A>C (n.1511-2A>C) c.1508-2A>C (n.1508-2A>C) c.1490-2A>C (n.1490-2A>C) c.1433-2A>C (n.1433-2A>C) c.-68-2A>C (n.-68-2A>C) c.1481-2A>C (n.1481-2A>C) c.1487-2A>C (n.1487-2A>C) c.1403-2A>C (n.1403-2A>C) c.1331-2A>C (n.1331-2A>C) c.626-2A>C (n.626-2A>C) | |
| 9 | g.137762673A>G | CA375768310 | EHMT1 | c.1502-2A>G (n.1502-2A>G) c.1388-2A>G (n.1388-2A>G) c.1409-2A>G (n.1409-2A>G) c.1542-2A>G (n.1542-2A>G) c.1447-2A>G c.1129-2A>G c.671-2A>G (n.671-2A>G) c.*1237-2A>G (n.*1237-2A>G) c.359-2A>G (n.359-2A>G) c.194-2A>G (n.194-2A>G) c.595-2A>G c.1493-2A>G (n.1493-2A>G) c.1484-2A>G (n.1484-2A>G) c.1511-2A>G (n.1511-2A>G) c.1508-2A>G (n.1508-2A>G) c.1490-2A>G (n.1490-2A>G) c.1433-2A>G (n.1433-2A>G) c.-68-2A>G (n.-68-2A>G) c.1481-2A>G (n.1481-2A>G) c.1487-2A>G (n.1487-2A>G) c.1403-2A>G (n.1403-2A>G) c.1331-2A>G (n.1331-2A>G) c.626-2A>G (n.626-2A>G) | ClinVar dbSNP |
| 9 | g.137762673A>T | CA375768316 | EHMT1 | c.1502-2A>T (n.1502-2A>T) c.1388-2A>T (n.1388-2A>T) c.1409-2A>T (n.1409-2A>T) c.1542-2A>T (n.1542-2A>T) c.1447-2A>T c.1129-2A>T c.671-2A>T (n.671-2A>T) c.*1237-2A>T (n.*1237-2A>T) c.359-2A>T (n.359-2A>T) c.194-2A>T (n.194-2A>T) c.595-2A>T c.1493-2A>T (n.1493-2A>T) c.1484-2A>T (n.1484-2A>T) c.1511-2A>T (n.1511-2A>T) c.1508-2A>T (n.1508-2A>T) c.1490-2A>T (n.1490-2A>T) c.1433-2A>T (n.1433-2A>T) c.-68-2A>T (n.-68-2A>T) c.1481-2A>T (n.1481-2A>T) c.1487-2A>T (n.1487-2A>T) c.1403-2A>T (n.1403-2A>T) c.1331-2A>T (n.1331-2A>T) c.626-2A>T (n.626-2A>T) | |
| 9 | g.137762674G>A | CA375768323 | EHMT1 | c.1502-1G>A (n.1502-1G>A) c.1388-1G>A (n.1388-1G>A) c.1409-1G>A (n.1409-1G>A) c.1542-1G>A (n.1542-1G>A) c.1447-1G>A c.1129-1G>A c.671-1G>A (n.671-1G>A) c.*1237-1G>A (n.*1237-1G>A) c.359-1G>A (n.359-1G>A) c.194-1G>A (n.194-1G>A) c.595-1G>A c.1493-1G>A (n.1493-1G>A) c.1484-1G>A (n.1484-1G>A) c.1511-1G>A (n.1511-1G>A) c.1508-1G>A (n.1508-1G>A) c.1490-1G>A (n.1490-1G>A) c.1433-1G>A (n.1433-1G>A) c.-68-1G>A (n.-68-1G>A) c.1481-1G>A (n.1481-1G>A) c.1487-1G>A (n.1487-1G>A) c.1403-1G>A (n.1403-1G>A) c.1331-1G>A (n.1331-1G>A) c.626-1G>A (n.626-1G>A) | |
| 9 | g.137762674G>C | CA375768339 | EHMT1 | c.1502-1G>C (n.1502-1G>C) c.1388-1G>C (n.1388-1G>C) c.1409-1G>C (n.1409-1G>C) c.1542-1G>C (n.1542-1G>C) c.1447-1G>C c.1129-1G>C c.671-1G>C (n.671-1G>C) c.*1237-1G>C (n.*1237-1G>C) c.359-1G>C (n.359-1G>C) c.194-1G>C (n.194-1G>C) c.595-1G>C c.1493-1G>C (n.1493-1G>C) c.1484-1G>C (n.1484-1G>C) c.1511-1G>C (n.1511-1G>C) c.1508-1G>C (n.1508-1G>C) c.1490-1G>C (n.1490-1G>C) c.1433-1G>C (n.1433-1G>C) c.-68-1G>C (n.-68-1G>C) c.1481-1G>C (n.1481-1G>C) c.1487-1G>C (n.1487-1G>C) c.1403-1G>C (n.1403-1G>C) c.1331-1G>C (n.1331-1G>C) c.626-1G>C (n.626-1G>C) | |
| 9 | g.137762674G>T | CA375768330 | EHMT1 | c.1502-1G>T (n.1502-1G>T) c.1388-1G>T (n.1388-1G>T) c.1409-1G>T (n.1409-1G>T) c.1542-1G>T (n.1542-1G>T) c.1447-1G>T c.1129-1G>T c.671-1G>T (n.671-1G>T) c.*1237-1G>T (n.*1237-1G>T) c.359-1G>T (n.359-1G>T) c.194-1G>T (n.194-1G>T) c.595-1G>T c.1493-1G>T (n.1493-1G>T) c.1484-1G>T (n.1484-1G>T) c.1511-1G>T (n.1511-1G>T) c.1508-1G>T (n.1508-1G>T) c.1490-1G>T (n.1490-1G>T) c.1433-1G>T (n.1433-1G>T) c.-68-1G>T (n.-68-1G>T) c.1481-1G>T (n.1481-1G>T) c.1487-1G>T (n.1487-1G>T) c.1403-1G>T (n.1403-1G>T) c.1331-1G>T (n.1331-1G>T) c.626-1G>T (n.626-1G>T) | |
| 9 | g.137762675G>A | CA375768342 | EHMT1 | c.1502G>A (p.Gly501Glu) c.1388G>A (p.Gly463Glu) c.1409G>A (p.Gly470Glu) c.1542G>A (n.1542G>A) c.1447G>A c.1129G>A c.671G>A (p.Gly224Glu) c.*1237G>A (n.*1237G>A) c.359G>A (p.Gly120Glu) c.194G>A (p.Gly65Glu) c.595G>A c.1493G>A (p.Gly498Glu) c.1484G>A (p.Gly495Glu) c.1511G>A (p.Gly504Glu) c.1508G>A (p.Gly503Glu) c.1490G>A (p.Gly497Glu) c.1433G>A (p.Gly478Glu) c.-68G>A (n.-68G>A) c.1481G>A (p.Gly494Glu) c.1487G>A (p.Gly496Glu) c.1403G>A (p.Gly468Glu) c.1331G>A (p.Gly444Glu) c.626G>A (p.Gly209Glu) | |
| 9 | g.137762675G>C | CA375768346 | EHMT1 | c.1502G>C (p.Gly501Ala) c.1388G>C (p.Gly463Ala) c.1409G>C (p.Gly470Ala) c.1542G>C (n.1542G>C) c.1447G>C c.1129G>C c.671G>C (p.Gly224Ala) c.*1237G>C (n.*1237G>C) c.359G>C (p.Gly120Ala) c.194G>C (p.Gly65Ala) c.595G>C c.1493G>C (p.Gly498Ala) c.1484G>C (p.Gly495Ala) c.1511G>C (p.Gly504Ala) c.1508G>C (p.Gly503Ala) c.1490G>C (p.Gly497Ala) c.1433G>C (p.Gly478Ala) c.-68G>C (n.-68G>C) c.1481G>C (p.Gly494Ala) c.1487G>C (p.Gly496Ala) c.1403G>C (p.Gly468Ala) c.1331G>C (p.Gly444Ala) c.626G>C (p.Gly209Ala) | gnomAD v4 |
| 9 | g.137762675G>T | CA375768353 | EHMT1 | c.1502G>T (p.Gly501Val) c.1388G>T (p.Gly463Val) c.1409G>T (p.Gly470Val) c.1542G>T (n.1542G>T) c.1447G>T c.1129G>T c.671G>T (p.Gly224Val) c.*1237G>T (n.*1237G>T) c.359G>T (p.Gly120Val) c.194G>T (p.Gly65Val) c.595G>T c.1493G>T (p.Gly498Val) c.1484G>T (p.Gly495Val) c.1511G>T (p.Gly504Val) c.1508G>T (p.Gly503Val) c.1490G>T (p.Gly497Val) c.1433G>T (p.Gly478Val) c.-68G>T (n.-68G>T) c.1481G>T (p.Gly494Val) c.1487G>T (p.Gly496Val) c.1403G>T (p.Gly468Val) c.1331G>T (p.Gly444Val) c.626G>T (p.Gly209Val) | |
| 9 | g.137762676G>A | CA467873844 | EHMT1 | c.1503G>A (p.Gly501=) c.1389G>A (p.Gly463=) c.1410G>A (p.Gly470=) c.1543G>A (n.1543G>A) c.1448G>A c.1130G>A c.672G>A (p.Gly224=) c.*1238G>A (n.*1238G>A) c.360G>A (p.Gly120=) c.195G>A (p.Gly65=) c.596G>A c.1494G>A (p.Gly498=) c.1485G>A (p.Gly495=) c.1512G>A (p.Gly504=) c.1509G>A (p.Gly503=) c.1491G>A (p.Gly497=) c.1434G>A (p.Gly478=) c.-67G>A (n.-67G>A) c.1482G>A (p.Gly494=) c.1488G>A (p.Gly496=) c.1404G>A (p.Gly468=) c.1332G>A (p.Gly444=) c.627G>A (p.Gly209=) | |
| 9 | g.137762676G>C | CA467873845 | EHMT1 | c.1503G>C (p.Gly501=) c.1389G>C (p.Gly463=) c.1410G>C (p.Gly470=) c.1543G>C (n.1543G>C) c.1448G>C c.1130G>C c.672G>C (p.Gly224=) c.*1238G>C (n.*1238G>C) c.360G>C (p.Gly120=) c.195G>C (p.Gly65=) c.596G>C c.1494G>C (p.Gly498=) c.1485G>C (p.Gly495=) c.1512G>C (p.Gly504=) c.1509G>C (p.Gly503=) c.1491G>C (p.Gly497=) c.1434G>C (p.Gly478=) c.-67G>C (n.-67G>C) c.1482G>C (p.Gly494=) c.1488G>C (p.Gly496=) c.1404G>C (p.Gly468=) c.1332G>C (p.Gly444=) c.627G>C (p.Gly209=) | |
| 9 | g.137762676G>T | CA467873846 | EHMT1 | c.1503G>T (p.Gly501=) c.1389G>T (p.Gly463=) c.1410G>T (p.Gly470=) c.1543G>T (n.1543G>T) c.1448G>T c.1130G>T c.672G>T (p.Gly224=) c.*1238G>T (n.*1238G>T) c.360G>T (p.Gly120=) c.195G>T (p.Gly65=) c.596G>T c.1494G>T (p.Gly498=) c.1485G>T (p.Gly495=) c.1512G>T (p.Gly504=) c.1509G>T (p.Gly503=) c.1491G>T (p.Gly497=) c.1434G>T (p.Gly478=) c.-67G>T (n.-67G>T) c.1482G>T (p.Gly494=) c.1488G>T (p.Gly496=) c.1404G>T (p.Gly468=) c.1332G>T (p.Gly444=) c.627G>T (p.Gly209=) | |
| 9 | g.137762677T>A | CA5374652 | EHMT1 | c.1504T>A (p.Leu502Met) c.1390T>A (p.Leu464Met) c.1411T>A (p.Leu471Met) c.1544T>A (n.1544T>A) c.1449T>A c.1131T>A c.673T>A (p.Leu225Met) c.*1239T>A (n.*1239T>A) c.361T>A (p.Leu121Met) c.196T>A (p.Leu66Met) c.597T>A c.1495T>A (p.Leu499Met) c.1486T>A (p.Leu496Met) c.1513T>A (p.Leu505Met) c.1510T>A (p.Leu504Met) c.1492T>A (p.Leu498Met) c.1435T>A (p.Leu479Met) c.-66T>A (n.-66T>A) c.1483T>A (p.Leu495Met) c.1489T>A (p.Leu497Met) c.1405T>A (p.Leu469Met) c.1333T>A (p.Leu445Met) c.628T>A (p.Leu210Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137762677T>C | CA467873847 | EHMT1 | c.1504T>C (p.Leu502=) c.1390T>C (p.Leu464=) c.1411T>C (p.Leu471=) c.1544T>C (n.1544T>C) c.1449T>C c.1131T>C c.673T>C (p.Leu225=) c.*1239T>C (n.*1239T>C) c.361T>C (p.Leu121=) c.196T>C (p.Leu66=) c.597T>C c.1495T>C (p.Leu499=) c.1486T>C (p.Leu496=) c.1513T>C (p.Leu505=) c.1510T>C (p.Leu504=) c.1492T>C (p.Leu498=) c.1435T>C (p.Leu479=) c.-66T>C (n.-66T>C) c.1483T>C (p.Leu495=) c.1489T>C (p.Leu497=) c.1405T>C (p.Leu469=) c.1333T>C (p.Leu445=) c.628T>C (p.Leu210=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137762677T>G | CA375768364 | EHMT1 | c.1504T>G (p.Leu502Val) c.1390T>G (p.Leu464Val) c.1411T>G (p.Leu471Val) c.1544T>G (n.1544T>G) c.1449T>G c.1131T>G c.673T>G (p.Leu225Val) c.*1239T>G (n.*1239T>G) c.361T>G (p.Leu121Val) c.196T>G (p.Leu66Val) c.597T>G c.1495T>G (p.Leu499Val) c.1486T>G (p.Leu496Val) c.1513T>G (p.Leu505Val) c.1510T>G (p.Leu504Val) c.1492T>G (p.Leu498Val) c.1435T>G (p.Leu479Val) c.-66T>G (n.-66T>G) c.1483T>G (p.Leu495Val) c.1489T>G (p.Leu497Val) c.1405T>G (p.Leu469Val) c.1333T>G (p.Leu445Val) c.628T>G (p.Leu210Val) | |
| 9 | g.137762677T= | CA1884659546 | EHMT1 | c.1504T= (p.Leu502=) c.1390T= (p.Leu464=) c.1411T= (p.Leu471=) c.1544T= (n.1544T=) c.1449T= c.1131T= c.673T= (p.Leu225=) c.*1239T= (n.*1239T=) c.361T= (p.Leu121=) c.196T= (p.Leu66=) c.597T= c.1495T= (p.Leu499=) c.1486T= (p.Leu496=) c.1513T= (p.Leu505=) c.1510T= (p.Leu504=) c.1492T= (p.Leu498=) c.1435T= (p.Leu479=) c.-66T= (n.-66T=) c.1483T= (p.Leu495=) c.1489T= (p.Leu497=) c.1405T= (p.Leu469=) c.1333T= (p.Leu445=) c.628T= (p.Leu210=) | |
| 9 | g.137762678T>A | CA375768367 | EHMT1 | c.1505T>A (p.Leu502Ter) c.1391T>A (p.Leu464Ter) c.1412T>A (p.Leu471Ter) c.1545T>A (n.1545T>A) c.1450T>A c.1132T>A c.674T>A (p.Leu225Ter) c.*1240T>A (n.*1240T>A) c.362T>A (p.Leu121Ter) c.197T>A (p.Leu66Ter) c.598T>A c.1496T>A (p.Leu499Ter) c.1487T>A (p.Leu496Ter) c.1514T>A (p.Leu505Ter) c.1511T>A (p.Leu504Ter) c.1493T>A (p.Leu498Ter) c.1436T>A (p.Leu479Ter) c.-65T>A (n.-65T>A) c.1484T>A (p.Leu495Ter) c.1490T>A (p.Leu497Ter) c.1406T>A (p.Leu469Ter) c.1334T>A (p.Leu445Ter) c.629T>A (p.Leu210Ter) | |
| 9 | g.137762678T>C | CA375768368 | EHMT1 | c.1505T>C (p.Leu502Ser) c.1391T>C (p.Leu464Ser) c.1412T>C (p.Leu471Ser) c.1545T>C (n.1545T>C) c.1450T>C c.1132T>C c.674T>C (p.Leu225Ser) c.*1240T>C (n.*1240T>C) c.362T>C (p.Leu121Ser) c.197T>C (p.Leu66Ser) c.598T>C c.1496T>C (p.Leu499Ser) c.1487T>C (p.Leu496Ser) c.1514T>C (p.Leu505Ser) c.1511T>C (p.Leu504Ser) c.1493T>C (p.Leu498Ser) c.1436T>C (p.Leu479Ser) c.-65T>C (n.-65T>C) c.1484T>C (p.Leu495Ser) c.1490T>C (p.Leu497Ser) c.1406T>C (p.Leu469Ser) c.1334T>C (p.Leu445Ser) c.629T>C (p.Leu210Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137762678T>G | CA375768372 | EHMT1 | c.1505T>G (p.Leu502Trp) c.1391T>G (p.Leu464Trp) c.1412T>G (p.Leu471Trp) c.1545T>G (n.1545T>G) c.1450T>G c.1132T>G c.674T>G (p.Leu225Trp) c.*1240T>G (n.*1240T>G) c.362T>G (p.Leu121Trp) c.197T>G (p.Leu66Trp) c.598T>G c.1496T>G (p.Leu499Trp) c.1487T>G (p.Leu496Trp) c.1514T>G (p.Leu505Trp) c.1511T>G (p.Leu504Trp) c.1493T>G (p.Leu498Trp) c.1436T>G (p.Leu479Trp) c.-65T>G (n.-65T>G) c.1484T>G (p.Leu495Trp) c.1490T>G (p.Leu497Trp) c.1406T>G (p.Leu469Trp) c.1334T>G (p.Leu445Trp) c.629T>G (p.Leu210Trp) | |
| 9 | g.137762678T= | CA1884659547 | EHMT1 | c.1505T= (p.Leu502=) c.1391T= (p.Leu464=) c.1412T= (p.Leu471=) c.1545T= (n.1545T=) c.1450T= c.1132T= c.674T= (p.Leu225=) c.*1240T= (n.*1240T=) c.362T= (p.Leu121=) c.197T= (p.Leu66=) c.598T= c.1496T= (p.Leu499=) c.1487T= (p.Leu496=) c.1514T= (p.Leu505=) c.1511T= (p.Leu504=) c.1493T= (p.Leu498=) c.1436T= (p.Leu479=) c.-65T= (n.-65T=) c.1484T= (p.Leu495=) c.1490T= (p.Leu497=) c.1406T= (p.Leu469=) c.1334T= (p.Leu445=) c.629T= (p.Leu210=) | |
| 9 | g.137762679G>A | CA467873848 | EHMT1 | c.1506G>A (p.Leu502=) c.1392G>A (p.Leu464=) c.1413G>A (p.Leu471=) c.1546G>A (n.1546G>A) c.1451G>A c.1133G>A c.675G>A (p.Leu225=) c.*1241G>A (n.*1241G>A) c.363G>A (p.Leu121=) c.198G>A (p.Leu66=) c.599G>A c.1497G>A (p.Leu499=) c.1488G>A (p.Leu496=) c.1515G>A (p.Leu505=) c.1512G>A (p.Leu504=) c.1494G>A (p.Leu498=) c.1437G>A (p.Leu479=) c.-64G>A (n.-64G>A) c.1485G>A (p.Leu495=) c.1491G>A (p.Leu497=) c.1407G>A (p.Leu469=) c.1335G>A (p.Leu445=) c.630G>A (p.Leu210=) | |
| 9 | g.137762679G>C | CA375768374 | EHMT1 | c.1506G>C (p.Leu502Phe) c.1392G>C (p.Leu464Phe) c.1413G>C (p.Leu471Phe) c.1546G>C (n.1546G>C) c.1451G>C c.1133G>C c.675G>C (p.Leu225Phe) c.*1241G>C (n.*1241G>C) c.363G>C (p.Leu121Phe) c.198G>C (p.Leu66Phe) c.599G>C c.1497G>C (p.Leu499Phe) c.1488G>C (p.Leu496Phe) c.1515G>C (p.Leu505Phe) c.1512G>C (p.Leu504Phe) c.1494G>C (p.Leu498Phe) c.1437G>C (p.Leu479Phe) c.-64G>C (n.-64G>C) c.1485G>C (p.Leu495Phe) c.1491G>C (p.Leu497Phe) c.1407G>C (p.Leu469Phe) c.1335G>C (p.Leu445Phe) c.630G>C (p.Leu210Phe) | |
| 9 | g.137762679G>T | CA375768375 | EHMT1 | c.1506G>T (p.Leu502Phe) c.1392G>T (p.Leu464Phe) c.1413G>T (p.Leu471Phe) c.1546G>T (n.1546G>T) c.1451G>T c.1133G>T c.675G>T (p.Leu225Phe) c.*1241G>T (n.*1241G>T) c.363G>T (p.Leu121Phe) c.198G>T (p.Leu66Phe) c.599G>T c.1497G>T (p.Leu499Phe) c.1488G>T (p.Leu496Phe) c.1515G>T (p.Leu505Phe) c.1512G>T (p.Leu504Phe) c.1494G>T (p.Leu498Phe) c.1437G>T (p.Leu479Phe) c.-64G>T (n.-64G>T) c.1485G>T (p.Leu495Phe) c.1491G>T (p.Leu497Phe) c.1407G>T (p.Leu469Phe) c.1335G>T (p.Leu445Phe) c.630G>T (p.Leu210Phe) | |
| 9 | g.137762680G>A | CA5374653 | EHMT1 | c.1507G>A (p.Ala503Thr) c.1393G>A (p.Ala465Thr) c.1414G>A (p.Ala472Thr) c.1547G>A (n.1547G>A) c.1452G>A c.1134G>A c.676G>A (p.Ala226Thr) c.*1242G>A (n.*1242G>A) c.364G>A (p.Ala122Thr) c.199G>A (p.Ala67Thr) c.600G>A c.1498G>A (p.Ala500Thr) c.1489G>A (p.Ala497Thr) c.1516G>A (p.Ala506Thr) c.1513G>A (p.Ala505Thr) c.1495G>A (p.Ala499Thr) c.1438G>A (p.Ala480Thr) c.-63G>A (n.-63G>A) c.1486G>A (p.Ala496Thr) c.1492G>A (p.Ala498Thr) c.1408G>A (p.Ala470Thr) c.1336G>A (p.Ala446Thr) c.631G>A (p.Ala211Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137762680G>C | CA375768379 | EHMT1 | c.1507G>C (p.Ala503Pro) c.1393G>C (p.Ala465Pro) c.1414G>C (p.Ala472Pro) c.1547G>C (n.1547G>C) c.1452G>C c.1134G>C c.676G>C (p.Ala226Pro) c.*1242G>C (n.*1242G>C) c.364G>C (p.Ala122Pro) c.199G>C (p.Ala67Pro) c.600G>C c.1498G>C (p.Ala500Pro) c.1489G>C (p.Ala497Pro) c.1516G>C (p.Ala506Pro) c.1513G>C (p.Ala505Pro) c.1495G>C (p.Ala499Pro) c.1438G>C (p.Ala480Pro) c.-63G>C (n.-63G>C) c.1486G>C (p.Ala496Pro) c.1492G>C (p.Ala498Pro) c.1408G>C (p.Ala470Pro) c.1336G>C (p.Ala446Pro) c.631G>C (p.Ala211Pro) | |
| 9 | g.137762680G= | CA1884659548 | EHMT1 | c.1507G= (p.Ala503=) c.1393G= (p.Ala465=) c.1414G= (p.Ala472=) c.1547G= (n.1547G=) c.1452G= c.1134G= c.676G= (p.Ala226=) c.*1242G= (n.*1242G=) c.364G= (p.Ala122=) c.199G= (p.Ala67=) c.600G= c.1498G= (p.Ala500=) c.1489G= (p.Ala497=) c.1516G= (p.Ala506=) c.1513G= (p.Ala505=) c.1495G= (p.Ala499=) c.1438G= (p.Ala480=) c.-63G= (n.-63G=) c.1486G= (p.Ala496=) c.1492G= (p.Ala498=) c.1408G= (p.Ala470=) c.1336G= (p.Ala446=) c.631G= (p.Ala211=) | |
| 9 | g.137762680G>T | CA375768387 | EHMT1 | c.1507G>T (p.Ala503Ser) c.1393G>T (p.Ala465Ser) c.1414G>T (p.Ala472Ser) c.1547G>T (n.1547G>T) c.1452G>T c.1134G>T c.676G>T (p.Ala226Ser) c.*1242G>T (n.*1242G>T) c.364G>T (p.Ala122Ser) c.199G>T (p.Ala67Ser) c.600G>T c.1498G>T (p.Ala500Ser) c.1489G>T (p.Ala497Ser) c.1516G>T (p.Ala506Ser) c.1513G>T (p.Ala505Ser) c.1495G>T (p.Ala499Ser) c.1438G>T (p.Ala480Ser) c.-63G>T (n.-63G>T) c.1486G>T (p.Ala496Ser) c.1492G>T (p.Ala498Ser) c.1408G>T (p.Ala470Ser) c.1336G>T (p.Ala446Ser) c.631G>T (p.Ala211Ser) | |
| 9 | g.137762681C>A | CA375768397 | EHMT1 | c.1508C>A (p.Ala503Asp) c.1394C>A (p.Ala465Asp) c.1415C>A (p.Ala472Asp) c.1548C>A (n.1548C>A) c.1453C>A c.1135C>A c.677C>A (p.Ala226Asp) c.*1243C>A (n.*1243C>A) c.365C>A (p.Ala122Asp) c.200C>A (p.Ala67Asp) c.601C>A c.1499C>A (p.Ala500Asp) c.1490C>A (p.Ala497Asp) c.1517C>A (p.Ala506Asp) c.1514C>A (p.Ala505Asp) c.1496C>A (p.Ala499Asp) c.1439C>A (p.Ala480Asp) c.-62C>A (n.-62C>A) c.1487C>A (p.Ala496Asp) c.1493C>A (p.Ala498Asp) c.1409C>A (p.Ala470Asp) c.1337C>A (p.Ala446Asp) c.632C>A (p.Ala211Asp) | |
| 9 | g.137762681C>G | CA375768403 | EHMT1 | c.1508C>G (p.Ala503Gly) c.1394C>G (p.Ala465Gly) c.1415C>G (p.Ala472Gly) c.1548C>G (n.1548C>G) c.1453C>G c.1135C>G c.677C>G (p.Ala226Gly) c.*1243C>G (n.*1243C>G) c.365C>G (p.Ala122Gly) c.200C>G (p.Ala67Gly) c.601C>G c.1499C>G (p.Ala500Gly) c.1490C>G (p.Ala497Gly) c.1517C>G (p.Ala506Gly) c.1514C>G (p.Ala505Gly) c.1496C>G (p.Ala499Gly) c.1439C>G (p.Ala480Gly) c.-62C>G (n.-62C>G) c.1487C>G (p.Ala496Gly) c.1493C>G (p.Ala498Gly) c.1409C>G (p.Ala470Gly) c.1337C>G (p.Ala446Gly) c.632C>G (p.Ala211Gly) | |
| 9 | g.137762681C>T | CA375768401 | EHMT1 | c.1508C>T (p.Ala503Val) c.1394C>T (p.Ala465Val) c.1415C>T (p.Ala472Val) c.1548C>T (n.1548C>T) c.1453C>T c.1135C>T c.677C>T (p.Ala226Val) c.*1243C>T (n.*1243C>T) c.365C>T (p.Ala122Val) c.200C>T (p.Ala67Val) c.601C>T c.1499C>T (p.Ala500Val) c.1490C>T (p.Ala497Val) c.1517C>T (p.Ala506Val) c.1514C>T (p.Ala505Val) c.1496C>T (p.Ala499Val) c.1439C>T (p.Ala480Val) c.-62C>T (n.-62C>T) c.1487C>T (p.Ala496Val) c.1493C>T (p.Ala498Val) c.1409C>T (p.Ala470Val) c.1337C>T (p.Ala446Val) c.632C>T (p.Ala211Val) | |
| 9 | g.137762682C>A | CA467873849 | EHMT1 | c.1509C>A (p.Ala503=) c.1395C>A (p.Ala465=) c.1416C>A (p.Ala472=) c.1549C>A (n.1549C>A) c.1454C>A c.1136C>A c.678C>A (p.Ala226=) c.*1244C>A (n.*1244C>A) c.366C>A (p.Ala122=) c.201C>A (p.Ala67=) c.602C>A c.1500C>A (p.Ala500=) c.1491C>A (p.Ala497=) c.1518C>A (p.Ala506=) c.1515C>A (p.Ala505=) c.1497C>A (p.Ala499=) c.1440C>A (p.Ala480=) c.-61C>A (n.-61C>A) c.1488C>A (p.Ala496=) c.1494C>A (p.Ala498=) c.1410C>A (p.Ala470=) c.1338C>A (p.Ala446=) c.633C>A (p.Ala211=) | |
| 9 | g.137762682C>G | CA467873851 | EHMT1 | c.1509C>G (p.Ala503=) c.1395C>G (p.Ala465=) c.1416C>G (p.Ala472=) c.1549C>G (n.1549C>G) c.1454C>G c.1136C>G c.678C>G (p.Ala226=) c.*1244C>G (n.*1244C>G) c.366C>G (p.Ala122=) c.201C>G (p.Ala67=) c.602C>G c.1500C>G (p.Ala500=) c.1491C>G (p.Ala497=) c.1518C>G (p.Ala506=) c.1515C>G (p.Ala505=) c.1497C>G (p.Ala499=) c.1440C>G (p.Ala480=) c.-61C>G (n.-61C>G) c.1488C>G (p.Ala496=) c.1494C>G (p.Ala498=) c.1410C>G (p.Ala470=) c.1338C>G (p.Ala446=) c.633C>G (p.Ala211=) | |
| 9 | g.137762682C>T | CA467873850 | EHMT1 | c.1509C>T (p.Ala503=) c.1395C>T (p.Ala465=) c.1416C>T (p.Ala472=) c.1549C>T (n.1549C>T) c.1454C>T c.1136C>T c.678C>T (p.Ala226=) c.*1244C>T (n.*1244C>T) c.366C>T (p.Ala122=) c.201C>T (p.Ala67=) c.602C>T c.1500C>T (p.Ala500=) c.1491C>T (p.Ala497=) c.1518C>T (p.Ala506=) c.1515C>T (p.Ala505=) c.1497C>T (p.Ala499=) c.1440C>T (p.Ala480=) c.-61C>T (n.-61C>T) c.1488C>T (p.Ala496=) c.1494C>T (p.Ala498=) c.1410C>T (p.Ala470=) c.1338C>T (p.Ala446=) c.633C>T (p.Ala211=) | gnomAD v4 |
| 9 | g.137762683A= | CA1884659549 | EHMT1 | c.1510A= (p.Asn504=) c.1396A= (p.Asn466=) c.1417A= (p.Asn473=) c.1550A= (n.1550A=) c.1455A= c.1137A= c.679A= (p.Asn227=) c.*1245A= (n.*1245A=) c.367A= (p.Asn123=) c.202A= (p.Asn68=) c.603A= c.1501A= (p.Asn501=) c.1492A= (p.Asn498=) c.1519A= (p.Asn507=) c.1516A= (p.Asn506=) c.1498A= (p.Asn500=) c.1441A= (p.Asn481=) c.-60A= (n.-60A=) c.1489A= (p.Asn497=) c.1495A= (p.Asn499=) c.1411A= (p.Asn471=) c.1339A= (p.Asn447=) c.634A= (p.Asn212=) | |
| 9 | g.137762683A>C | CA375768407 | EHMT1 | c.1510A>C (p.Asn504His) c.1396A>C (p.Asn466His) c.1417A>C (p.Asn473His) c.1550A>C (n.1550A>C) c.1455A>C c.1137A>C c.679A>C (p.Asn227His) c.*1245A>C (n.*1245A>C) c.367A>C (p.Asn123His) c.202A>C (p.Asn68His) c.603A>C c.1501A>C (p.Asn501His) c.1492A>C (p.Asn498His) c.1519A>C (p.Asn507His) c.1516A>C (p.Asn506His) c.1498A>C (p.Asn500His) c.1441A>C (p.Asn481His) c.-60A>C (n.-60A>C) c.1489A>C (p.Asn497His) c.1495A>C (p.Asn499His) c.1411A>C (p.Asn471His) c.1339A>C (p.Asn447His) c.634A>C (p.Asn212His) | |
| 9 | g.137762683A>G | CA375768408 | EHMT1 | c.1510A>G (p.Asn504Asp) c.1396A>G (p.Asn466Asp) c.1417A>G (p.Asn473Asp) c.1550A>G (n.1550A>G) c.1455A>G c.1137A>G c.679A>G (p.Asn227Asp) c.*1245A>G (n.*1245A>G) c.367A>G (p.Asn123Asp) c.202A>G (p.Asn68Asp) c.603A>G c.1501A>G (p.Asn501Asp) c.1492A>G (p.Asn498Asp) c.1519A>G (p.Asn507Asp) c.1516A>G (p.Asn506Asp) c.1498A>G (p.Asn500Asp) c.1441A>G (p.Asn481Asp) c.-60A>G (n.-60A>G) c.1489A>G (p.Asn497Asp) c.1495A>G (p.Asn499Asp) c.1411A>G (p.Asn471Asp) c.1339A>G (p.Asn447Asp) c.634A>G (p.Asn212Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137762683A>T | CA375768409 | EHMT1 | c.1510A>T (p.Asn504Tyr) c.1396A>T (p.Asn466Tyr) c.1417A>T (p.Asn473Tyr) c.1550A>T (n.1550A>T) c.1455A>T c.1137A>T c.679A>T (p.Asn227Tyr) c.*1245A>T (n.*1245A>T) c.367A>T (p.Asn123Tyr) c.202A>T (p.Asn68Tyr) c.603A>T c.1501A>T (p.Asn501Tyr) c.1492A>T (p.Asn498Tyr) c.1519A>T (p.Asn507Tyr) c.1516A>T (p.Asn506Tyr) c.1498A>T (p.Asn500Tyr) c.1441A>T (p.Asn481Tyr) c.-60A>T (n.-60A>T) c.1489A>T (p.Asn497Tyr) c.1495A>T (p.Asn499Tyr) c.1411A>T (p.Asn471Tyr) c.1339A>T (p.Asn447Tyr) c.634A>T (p.Asn212Tyr) | |
| 9 | g.137762684A= | CA1884659550 | EHMT1 | c.1511A= (p.Asn504=) c.1397A= (p.Asn466=) c.1418A= (p.Asn473=) c.1551A= (n.1551A=) c.1456A= c.1138A= c.680A= (p.Asn227=) c.*1246A= (n.*1246A=) c.368A= (p.Asn123=) c.203A= (p.Asn68=) c.604A= c.1502A= (p.Asn501=) c.1493A= (p.Asn498=) c.1520A= (p.Asn507=) c.1517A= (p.Asn506=) c.1499A= (p.Asn500=) c.1442A= (p.Asn481=) c.-59A= (n.-59A=) c.1490A= (p.Asn497=) c.1496A= (p.Asn499=) c.1412A= (p.Asn471=) c.1340A= (p.Asn447=) c.635A= (p.Asn212=) | |
| 9 | g.137762684A>C | CA375768410 | EHMT1 | c.1511A>C (p.Asn504Thr) c.1397A>C (p.Asn466Thr) c.1418A>C (p.Asn473Thr) c.1551A>C (n.1551A>C) c.1456A>C c.1138A>C c.680A>C (p.Asn227Thr) c.*1246A>C (n.*1246A>C) c.368A>C (p.Asn123Thr) c.203A>C (p.Asn68Thr) c.604A>C c.1502A>C (p.Asn501Thr) c.1493A>C (p.Asn498Thr) c.1520A>C (p.Asn507Thr) c.1517A>C (p.Asn506Thr) c.1499A>C (p.Asn500Thr) c.1442A>C (p.Asn481Thr) c.-59A>C (n.-59A>C) c.1490A>C (p.Asn497Thr) c.1496A>C (p.Asn499Thr) c.1412A>C (p.Asn471Thr) c.1340A>C (p.Asn447Thr) c.635A>C (p.Asn212Thr) | gnomAD v4 |
| 9 | g.137762684A>G | CA5374654 | EHMT1 | c.1511A>G (p.Asn504Ser) c.1397A>G (p.Asn466Ser) c.1418A>G (p.Asn473Ser) c.1551A>G (n.1551A>G) c.1456A>G c.1138A>G c.680A>G (p.Asn227Ser) c.*1246A>G (n.*1246A>G) c.368A>G (p.Asn123Ser) c.203A>G (p.Asn68Ser) c.604A>G c.1502A>G (p.Asn501Ser) c.1493A>G (p.Asn498Ser) c.1520A>G (p.Asn507Ser) c.1517A>G (p.Asn506Ser) c.1499A>G (p.Asn500Ser) c.1442A>G (p.Asn481Ser) c.-59A>G (n.-59A>G) c.1490A>G (p.Asn497Ser) c.1496A>G (p.Asn499Ser) c.1412A>G (p.Asn471Ser) c.1340A>G (p.Asn447Ser) c.635A>G (p.Asn212Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137762684A>T | CA375768427 | EHMT1 | c.1511A>T (p.Asn504Ile) c.1397A>T (p.Asn466Ile) c.1418A>T (p.Asn473Ile) c.1551A>T (n.1551A>T) c.1456A>T c.1138A>T c.680A>T (p.Asn227Ile) c.*1246A>T (n.*1246A>T) c.368A>T (p.Asn123Ile) c.203A>T (p.Asn68Ile) c.604A>T c.1502A>T (p.Asn501Ile) c.1493A>T (p.Asn498Ile) c.1520A>T (p.Asn507Ile) c.1517A>T (p.Asn506Ile) c.1499A>T (p.Asn500Ile) c.1442A>T (p.Asn481Ile) c.-59A>T (n.-59A>T) c.1490A>T (p.Asn497Ile) c.1496A>T (p.Asn499Ile) c.1412A>T (p.Asn471Ile) c.1340A>T (p.Asn447Ile) c.635A>T (p.Asn212Ile) | |
| 9 | g.137762685C>A | CA375768432 | EHMT1 | c.1512C>A (p.Asn504Lys) c.1398C>A (p.Asn466Lys) c.1419C>A (p.Asn473Lys) c.1552C>A (n.1552C>A) c.1457C>A c.1139C>A c.681C>A (p.Asn227Lys) c.*1247C>A (n.*1247C>A) c.369C>A (p.Asn123Lys) c.204C>A (p.Asn68Lys) c.605C>A c.1503C>A (p.Asn501Lys) c.1494C>A (p.Asn498Lys) c.1521C>A (p.Asn507Lys) c.1518C>A (p.Asn506Lys) c.1500C>A (p.Asn500Lys) c.1443C>A (p.Asn481Lys) c.-58C>A (n.-58C>A) c.1491C>A (p.Asn497Lys) c.1497C>A (p.Asn499Lys) c.1413C>A (p.Asn471Lys) c.1341C>A (p.Asn447Lys) c.636C>A (p.Asn212Lys) | dbSNP gnomAD v4 |
| 9 | g.137762685C= | CA1884659551 | EHMT1 | c.1512C= (p.Asn504=) c.1398C= (p.Asn466=) c.1419C= (p.Asn473=) c.1552C= (n.1552C=) c.1457C= c.1139C= c.681C= (p.Asn227=) c.*1247C= (n.*1247C=) c.369C= (p.Asn123=) c.204C= (p.Asn68=) c.605C= c.1503C= (p.Asn501=) c.1494C= (p.Asn498=) c.1521C= (p.Asn507=) c.1518C= (p.Asn506=) c.1500C= (p.Asn500=) c.1443C= (p.Asn481=) c.-58C= (n.-58C=) c.1491C= (p.Asn497=) c.1497C= (p.Asn499=) c.1413C= (p.Asn471=) c.1341C= (p.Asn447=) c.636C= (p.Asn212=) | |
| 9 | g.137762685C>G | CA375768434 | EHMT1 | c.1512C>G (p.Asn504Lys) c.1398C>G (p.Asn466Lys) c.1419C>G (p.Asn473Lys) c.1552C>G (n.1552C>G) c.1457C>G c.1139C>G c.681C>G (p.Asn227Lys) c.*1247C>G (n.*1247C>G) c.369C>G (p.Asn123Lys) c.204C>G (p.Asn68Lys) c.605C>G c.1503C>G (p.Asn501Lys) c.1494C>G (p.Asn498Lys) c.1521C>G (p.Asn507Lys) c.1518C>G (p.Asn506Lys) c.1500C>G (p.Asn500Lys) c.1443C>G (p.Asn481Lys) c.-58C>G (n.-58C>G) c.1491C>G (p.Asn497Lys) c.1497C>G (p.Asn499Lys) c.1413C>G (p.Asn471Lys) c.1341C>G (p.Asn447Lys) c.636C>G (p.Asn212Lys) | |
| 9 | g.137762685C>T | CA5374655 | EHMT1 | c.1512C>T (p.Asn504=) c.1398C>T (p.Asn466=) c.1419C>T (p.Asn473=) c.1552C>T (n.1552C>T) c.1457C>T c.1139C>T c.681C>T (p.Asn227=) c.*1247C>T (n.*1247C>T) c.369C>T (p.Asn123=) c.204C>T (p.Asn68=) c.605C>T c.1503C>T (p.Asn501=) c.1494C>T (p.Asn498=) c.1521C>T (p.Asn507=) c.1518C>T (p.Asn506=) c.1500C>T (p.Asn500=) c.1443C>T (p.Asn481=) c.-58C>T (n.-58C>T) c.1491C>T (p.Asn497=) c.1497C>T (p.Asn499=) c.1413C>T (p.Asn471=) c.1341C>T (p.Asn447=) c.636C>T (p.Asn212=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137762686G>A | CA5374656 | EHMT1 | c.1513G>A (p.Gly505Ser) c.1399G>A (p.Gly467Ser) c.1420G>A (p.Gly474Ser) c.1553G>A (n.1553G>A) c.1458G>A c.1140G>A c.682G>A (p.Gly228Ser) c.*1248G>A (n.*1248G>A) c.370G>A (p.Gly124Ser) c.205G>A (p.Gly69Ser) c.606G>A c.1504G>A (p.Gly502Ser) c.1495G>A (p.Gly499Ser) c.1522G>A (p.Gly508Ser) c.1519G>A (p.Gly507Ser) c.1501G>A (p.Gly501Ser) c.1444G>A (p.Gly482Ser) c.-57G>A (n.-57G>A) c.1492G>A (p.Gly498Ser) c.1498G>A (p.Gly500Ser) c.1414G>A (p.Gly472Ser) c.1342G>A (p.Gly448Ser) c.637G>A (p.Gly213Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137762686G>C | CA375768445 | EHMT1 | c.1513G>C (p.Gly505Arg) c.1399G>C (p.Gly467Arg) c.1420G>C (p.Gly474Arg) c.1553G>C (n.1553G>C) c.1458G>C c.1140G>C c.682G>C (p.Gly228Arg) c.*1248G>C (n.*1248G>C) c.370G>C (p.Gly124Arg) c.205G>C (p.Gly69Arg) c.606G>C c.1504G>C (p.Gly502Arg) c.1495G>C (p.Gly499Arg) c.1522G>C (p.Gly508Arg) c.1519G>C (p.Gly507Arg) c.1501G>C (p.Gly501Arg) c.1444G>C (p.Gly482Arg) c.-57G>C (n.-57G>C) c.1492G>C (p.Gly498Arg) c.1498G>C (p.Gly500Arg) c.1414G>C (p.Gly472Arg) c.1342G>C (p.Gly448Arg) c.637G>C (p.Gly213Arg) | |
| 9 | g.137762686G= | CA1884659552 | EHMT1 | c.1513G= (p.Gly505=) c.1399G= (p.Gly467=) c.1420G= (p.Gly474=) c.1553G= (n.1553G=) c.1458G= c.1140G= c.682G= (p.Gly228=) c.*1248G= (n.*1248G=) c.370G= (p.Gly124=) c.205G= (p.Gly69=) c.606G= c.1504G= (p.Gly502=) c.1495G= (p.Gly499=) c.1522G= (p.Gly508=) c.1519G= (p.Gly507=) c.1501G= (p.Gly501=) c.1444G= (p.Gly482=) c.-57G= (n.-57G=) c.1492G= (p.Gly498=) c.1498G= (p.Gly500=) c.1414G= (p.Gly472=) c.1342G= (p.Gly448=) c.637G= (p.Gly213=) | |
| 9 | g.137762686G>T | CA375768439 | EHMT1 | c.1513G>T (p.Gly505Cys) c.1399G>T (p.Gly467Cys) c.1420G>T (p.Gly474Cys) c.1553G>T (n.1553G>T) c.1458G>T c.1140G>T c.682G>T (p.Gly228Cys) c.*1248G>T (n.*1248G>T) c.370G>T (p.Gly124Cys) c.205G>T (p.Gly69Cys) c.606G>T c.1504G>T (p.Gly502Cys) c.1495G>T (p.Gly499Cys) c.1522G>T (p.Gly508Cys) c.1519G>T (p.Gly507Cys) c.1501G>T (p.Gly501Cys) c.1444G>T (p.Gly482Cys) c.-57G>T (n.-57G>T) c.1492G>T (p.Gly498Cys) c.1498G>T (p.Gly500Cys) c.1414G>T (p.Gly472Cys) c.1342G>T (p.Gly448Cys) c.637G>T (p.Gly213Cys) | |
| 9 | g.137762687G>A | CA375768454 | EHMT1 | c.1514G>A (p.Gly505Asp) c.1400G>A (p.Gly467Asp) c.1421G>A (p.Gly474Asp) c.1554G>A (n.1554G>A) c.1459G>A c.1141G>A c.683G>A (p.Gly228Asp) c.*1249G>A (n.*1249G>A) c.371G>A (p.Gly124Asp) c.206G>A (p.Gly69Asp) c.607G>A c.1505G>A (p.Gly502Asp) c.1496G>A (p.Gly499Asp) c.1523G>A (p.Gly508Asp) c.1520G>A (p.Gly507Asp) c.1502G>A (p.Gly501Asp) c.1445G>A (p.Gly482Asp) c.-56G>A (n.-56G>A) c.1493G>A (p.Gly498Asp) c.1499G>A (p.Gly500Asp) c.1415G>A (p.Gly472Asp) c.1343G>A (p.Gly448Asp) c.638G>A (p.Gly213Asp) | |
| 9 | g.137762687G>C | CA375768456 | EHMT1 | c.1514G>C (p.Gly505Ala) c.1400G>C (p.Gly467Ala) c.1421G>C (p.Gly474Ala) c.1554G>C (n.1554G>C) c.1459G>C c.1141G>C c.683G>C (p.Gly228Ala) c.*1249G>C (n.*1249G>C) c.371G>C (p.Gly124Ala) c.206G>C (p.Gly69Ala) c.607G>C c.1505G>C (p.Gly502Ala) c.1496G>C (p.Gly499Ala) c.1523G>C (p.Gly508Ala) c.1520G>C (p.Gly507Ala) c.1502G>C (p.Gly501Ala) c.1445G>C (p.Gly482Ala) c.-56G>C (n.-56G>C) c.1493G>C (p.Gly498Ala) c.1499G>C (p.Gly500Ala) c.1415G>C (p.Gly472Ala) c.1343G>C (p.Gly448Ala) c.638G>C (p.Gly213Ala) | |
| 9 | g.137762687G>T | CA375768457 | EHMT1 | c.1514G>T (p.Gly505Val) c.1400G>T (p.Gly467Val) c.1421G>T (p.Gly474Val) c.1554G>T (n.1554G>T) c.1459G>T c.1141G>T c.683G>T (p.Gly228Val) c.*1249G>T (n.*1249G>T) c.371G>T (p.Gly124Val) c.206G>T (p.Gly69Val) c.607G>T c.1505G>T (p.Gly502Val) c.1496G>T (p.Gly499Val) c.1523G>T (p.Gly508Val) c.1520G>T (p.Gly507Val) c.1502G>T (p.Gly501Val) c.1445G>T (p.Gly482Val) c.-56G>T (n.-56G>T) c.1493G>T (p.Gly498Val) c.1499G>T (p.Gly500Val) c.1415G>T (p.Gly472Val) c.1343G>T (p.Gly448Val) c.638G>T (p.Gly213Val) | gnomAD v4 |
| 9 | g.137762688T>A | CA467873852 | EHMT1 | c.1515T>A (p.Gly505=) c.1401T>A (p.Gly467=) c.1422T>A (p.Gly474=) c.1555T>A (n.1555T>A) c.1460T>A c.1142T>A c.684T>A (p.Gly228=) c.*1250T>A (n.*1250T>A) c.372T>A (p.Gly124=) c.207T>A (p.Gly69=) c.608T>A c.1506T>A (p.Gly502=) c.1497T>A (p.Gly499=) c.1524T>A (p.Gly508=) c.1521T>A (p.Gly507=) c.1503T>A (p.Gly501=) c.1446T>A (p.Gly482=) c.-55T>A (n.-55T>A) c.1494T>A (p.Gly498=) c.1500T>A (p.Gly500=) c.1416T>A (p.Gly472=) c.1344T>A (p.Gly448=) c.639T>A (p.Gly213=) | |
| 9 | g.137762688T>C | CA467873853 | EHMT1 | c.1515T>C (p.Gly505=) c.1401T>C (p.Gly467=) c.1422T>C (p.Gly474=) c.1555T>C (n.1555T>C) c.1460T>C c.1142T>C c.684T>C (p.Gly228=) c.*1250T>C (n.*1250T>C) c.372T>C (p.Gly124=) c.207T>C (p.Gly69=) c.608T>C c.1506T>C (p.Gly502=) c.1497T>C (p.Gly499=) c.1524T>C (p.Gly508=) c.1521T>C (p.Gly507=) c.1503T>C (p.Gly501=) c.1446T>C (p.Gly482=) c.-55T>C (n.-55T>C) c.1494T>C (p.Gly498=) c.1500T>C (p.Gly500=) c.1416T>C (p.Gly472=) c.1344T>C (p.Gly448=) c.639T>C (p.Gly213=) | |
| 9 | g.137762688T>G | CA467873854 | EHMT1 | c.1515T>G (p.Gly505=) c.1401T>G (p.Gly467=) c.1422T>G (p.Gly474=) c.1555T>G (n.1555T>G) c.1460T>G c.1142T>G c.684T>G (p.Gly228=) c.*1250T>G (n.*1250T>G) c.372T>G (p.Gly124=) c.207T>G (p.Gly69=) c.608T>G c.1506T>G (p.Gly502=) c.1497T>G (p.Gly499=) c.1524T>G (p.Gly508=) c.1521T>G (p.Gly507=) c.1503T>G (p.Gly501=) c.1446T>G (p.Gly482=) c.-55T>G (n.-55T>G) c.1494T>G (p.Gly498=) c.1500T>G (p.Gly500=) c.1416T>G (p.Gly472=) c.1344T>G (p.Gly448=) c.639T>G (p.Gly213=) | |
| 9 | g.137762689C>A | CA375768458 | EHMT1 | c.1516C>A (p.Pro506Thr) c.1402C>A (p.Pro468Thr) c.1423C>A (p.Pro475Thr) c.1556C>A (n.1556C>A) c.1461C>A c.1143C>A c.685C>A (p.Pro229Thr) c.*1251C>A (n.*1251C>A) c.373C>A (p.Pro125Thr) c.208C>A (p.Pro70Thr) c.609C>A c.1507C>A (p.Pro503Thr) c.1498C>A (p.Pro500Thr) c.1525C>A (p.Pro509Thr) c.1522C>A (p.Pro508Thr) c.1504C>A (p.Pro502Thr) c.1447C>A (p.Pro483Thr) c.-54C>A (n.-54C>A) c.1495C>A (p.Pro499Thr) c.1501C>A (p.Pro501Thr) c.1417C>A (p.Pro473Thr) c.1345C>A (p.Pro449Thr) c.640C>A (p.Pro214Thr) | |
| 9 | g.137762689C>G | CA375768460 | EHMT1 | c.1516C>G (p.Pro506Ala) c.1402C>G (p.Pro468Ala) c.1423C>G (p.Pro475Ala) c.1556C>G (n.1556C>G) c.1461C>G c.1143C>G c.685C>G (p.Pro229Ala) c.*1251C>G (n.*1251C>G) c.373C>G (p.Pro125Ala) c.208C>G (p.Pro70Ala) c.609C>G c.1507C>G (p.Pro503Ala) c.1498C>G (p.Pro500Ala) c.1525C>G (p.Pro509Ala) c.1522C>G (p.Pro508Ala) c.1504C>G (p.Pro502Ala) c.1447C>G (p.Pro483Ala) c.-54C>G (n.-54C>G) c.1495C>G (p.Pro499Ala) c.1501C>G (p.Pro501Ala) c.1417C>G (p.Pro473Ala) c.1345C>G (p.Pro449Ala) c.640C>G (p.Pro214Ala) | |
| 9 | g.137762689C>T | CA375768464 | EHMT1 | c.1516C>T (p.Pro506Ser) c.1402C>T (p.Pro468Ser) c.1423C>T (p.Pro475Ser) c.1556C>T (n.1556C>T) c.1461C>T c.1143C>T c.685C>T (p.Pro229Ser) c.*1251C>T (n.*1251C>T) c.373C>T (p.Pro125Ser) c.208C>T (p.Pro70Ser) c.609C>T c.1507C>T (p.Pro503Ser) c.1498C>T (p.Pro500Ser) c.1525C>T (p.Pro509Ser) c.1522C>T (p.Pro508Ser) c.1504C>T (p.Pro502Ser) c.1447C>T (p.Pro483Ser) c.-54C>T (n.-54C>T) c.1495C>T (p.Pro499Ser) c.1501C>T (p.Pro501Ser) c.1417C>T (p.Pro473Ser) c.1345C>T (p.Pro449Ser) c.640C>T (p.Pro214Ser) | ClinVar |
| 9 | g.137762690C>A | CA375768467 | EHMT1 | c.1517C>A (p.Pro506Gln) c.1403C>A (p.Pro468Gln) c.1424C>A (p.Pro475Gln) c.1557C>A (n.1557C>A) c.1462C>A c.1144C>A c.686C>A (p.Pro229Gln) c.*1252C>A (n.*1252C>A) c.374C>A (p.Pro125Gln) c.209C>A (p.Pro70Gln) c.610C>A c.1508C>A (p.Pro503Gln) c.1499C>A (p.Pro500Gln) c.1526C>A (p.Pro509Gln) c.1523C>A (p.Pro508Gln) c.1505C>A (p.Pro502Gln) c.1448C>A (p.Pro483Gln) c.-53C>A (n.-53C>A) c.1496C>A (p.Pro499Gln) c.1502C>A (p.Pro501Gln) c.1418C>A (p.Pro473Gln) c.1346C>A (p.Pro449Gln) c.641C>A (p.Pro214Gln) | |
| 9 | g.137762690C>G | CA375768470 | EHMT1 | c.1517C>G (p.Pro506Arg) c.1403C>G (p.Pro468Arg) c.1424C>G (p.Pro475Arg) c.1557C>G (n.1557C>G) c.1462C>G c.1144C>G c.686C>G (p.Pro229Arg) c.*1252C>G (n.*1252C>G) c.374C>G (p.Pro125Arg) c.209C>G (p.Pro70Arg) c.610C>G c.1508C>G (p.Pro503Arg) c.1499C>G (p.Pro500Arg) c.1526C>G (p.Pro509Arg) c.1523C>G (p.Pro508Arg) c.1505C>G (p.Pro502Arg) c.1448C>G (p.Pro483Arg) c.-53C>G (n.-53C>G) c.1496C>G (p.Pro499Arg) c.1502C>G (p.Pro501Arg) c.1418C>G (p.Pro473Arg) c.1346C>G (p.Pro449Arg) c.641C>G (p.Pro214Arg) | |
| 9 | g.137762690C>T | CA375768473 | EHMT1 | c.1517C>T (p.Pro506Leu) c.1403C>T (p.Pro468Leu) c.1424C>T (p.Pro475Leu) c.1557C>T (n.1557C>T) c.1462C>T c.1144C>T c.686C>T (p.Pro229Leu) c.*1252C>T (n.*1252C>T) c.374C>T (p.Pro125Leu) c.209C>T (p.Pro70Leu) c.610C>T c.1508C>T (p.Pro503Leu) c.1499C>T (p.Pro500Leu) c.1526C>T (p.Pro509Leu) c.1523C>T (p.Pro508Leu) c.1505C>T (p.Pro502Leu) c.1448C>T (p.Pro483Leu) c.-53C>T (n.-53C>T) c.1496C>T (p.Pro499Leu) c.1502C>T (p.Pro501Leu) c.1418C>T (p.Pro473Leu) c.1346C>T (p.Pro449Leu) c.641C>T (p.Pro214Leu) | |
| 9 | g.137762691A>C | CA467873857 | EHMT1 | c.1518A>C (p.Pro506=) c.1404A>C (p.Pro468=) c.1425A>C (p.Pro475=) c.1558A>C (n.1558A>C) c.1463A>C c.1145A>C c.687A>C (p.Pro229=) c.*1253A>C (n.*1253A>C) c.375A>C (p.Pro125=) c.210A>C (p.Pro70=) c.611A>C c.1509A>C (p.Pro503=) c.1500A>C (p.Pro500=) c.1527A>C (p.Pro509=) c.1524A>C (p.Pro508=) c.1506A>C (p.Pro502=) c.1449A>C (p.Pro483=) c.-52A>C (n.-52A>C) c.1497A>C (p.Pro499=) c.1503A>C (p.Pro501=) c.1419A>C (p.Pro473=) c.1347A>C (p.Pro449=) c.642A>C (p.Pro214=) | |
| 9 | g.137762691A>G | CA467873856 | EHMT1 | c.1518A>G (p.Pro506=) c.1404A>G (p.Pro468=) c.1425A>G (p.Pro475=) c.1558A>G (n.1558A>G) c.1463A>G c.1145A>G c.687A>G (p.Pro229=) c.*1253A>G (n.*1253A>G) c.375A>G (p.Pro125=) c.210A>G (p.Pro70=) c.611A>G c.1509A>G (p.Pro503=) c.1500A>G (p.Pro500=) c.1527A>G (p.Pro509=) c.1524A>G (p.Pro508=) c.1506A>G (p.Pro502=) c.1449A>G (p.Pro483=) c.-52A>G (n.-52A>G) c.1497A>G (p.Pro499=) c.1503A>G (p.Pro501=) c.1419A>G (p.Pro473=) c.1347A>G (p.Pro449=) c.642A>G (p.Pro214=) | ClinVar |
| 9 | g.137762691A>T | CA467873855 | EHMT1 | c.1518A>T (p.Pro506=) c.1404A>T (p.Pro468=) c.1425A>T (p.Pro475=) c.1558A>T (n.1558A>T) c.1463A>T c.1145A>T c.687A>T (p.Pro229=) c.*1253A>T (n.*1253A>T) c.375A>T (p.Pro125=) c.210A>T (p.Pro70=) c.611A>T c.1509A>T (p.Pro503=) c.1500A>T (p.Pro500=) c.1527A>T (p.Pro509=) c.1524A>T (p.Pro508=) c.1506A>T (p.Pro502=) c.1449A>T (p.Pro483=) c.-52A>T (n.-52A>T) c.1497A>T (p.Pro499=) c.1503A>T (p.Pro501=) c.1419A>T (p.Pro473=) c.1347A>T (p.Pro449=) c.642A>T (p.Pro214=) | |
| 9 | g.137762692G>A | CA375768481 | EHMT1 | c.1519G>A (p.Asp507Asn) c.1405G>A (p.Asp469Asn) c.1426G>A (p.Asp476Asn) c.1559G>A (n.1559G>A) c.1464G>A c.1146G>A c.688G>A (p.Asp230Asn) c.*1254G>A (n.*1254G>A) c.376G>A (p.Asp126Asn) c.211G>A (p.Asp71Asn) c.612G>A c.1510G>A (p.Asp504Asn) c.1501G>A (p.Asp501Asn) c.1528G>A (p.Asp510Asn) c.1525G>A (p.Asp509Asn) c.1507G>A (p.Asp503Asn) c.1450G>A (p.Asp484Asn) c.-51G>A (n.-51G>A) c.1498G>A (p.Asp500Asn) c.1504G>A (p.Asp502Asn) c.1420G>A (p.Asp474Asn) c.1348G>A (p.Asp450Asn) c.643G>A (p.Asp215Asn) | |
| 9 | g.137762692G>C | CA375768485 | EHMT1 | c.1519G>C (p.Asp507His) c.1405G>C (p.Asp469His) c.1426G>C (p.Asp476His) c.1559G>C (n.1559G>C) c.1464G>C c.1146G>C c.688G>C (p.Asp230His) c.*1254G>C (n.*1254G>C) c.376G>C (p.Asp126His) c.211G>C (p.Asp71His) c.612G>C c.1510G>C (p.Asp504His) c.1501G>C (p.Asp501His) c.1528G>C (p.Asp510His) c.1525G>C (p.Asp509His) c.1507G>C (p.Asp503His) c.1450G>C (p.Asp484His) c.-51G>C (n.-51G>C) c.1498G>C (p.Asp500His) c.1504G>C (p.Asp502His) c.1420G>C (p.Asp474His) c.1348G>C (p.Asp450His) c.643G>C (p.Asp215His) | |
| 9 | g.137762692G>T | CA375768488 | EHMT1 | c.1519G>T (p.Asp507Tyr) c.1405G>T (p.Asp469Tyr) c.1426G>T (p.Asp476Tyr) c.1559G>T (n.1559G>T) c.1464G>T c.1146G>T c.688G>T (p.Asp230Tyr) c.*1254G>T (n.*1254G>T) c.376G>T (p.Asp126Tyr) c.211G>T (p.Asp71Tyr) c.612G>T c.1510G>T (p.Asp504Tyr) c.1501G>T (p.Asp501Tyr) c.1528G>T (p.Asp510Tyr) c.1525G>T (p.Asp509Tyr) c.1507G>T (p.Asp503Tyr) c.1450G>T (p.Asp484Tyr) c.-51G>T (n.-51G>T) c.1498G>T (p.Asp500Tyr) c.1504G>T (p.Asp502Tyr) c.1420G>T (p.Asp474Tyr) c.1348G>T (p.Asp450Tyr) c.643G>T (p.Asp215Tyr) | |
| 9 | g.137762693A= | CA1884659553 | EHMT1 | c.1520A= (p.Asp507=) c.1406A= (p.Asp469=) c.1427A= (p.Asp476=) c.1560A= (n.1560A=) c.1465A= c.1147A= c.689A= (p.Asp230=) c.*1255A= (n.*1255A=) c.377A= (p.Asp126=) c.212A= (p.Asp71=) c.613A= c.1511A= (p.Asp504=) c.1502A= (p.Asp501=) c.1529A= (p.Asp510=) c.1526A= (p.Asp509=) c.1508A= (p.Asp503=) c.1451A= (p.Asp484=) c.-50A= (n.-50A=) c.1499A= (p.Asp500=) c.1505A= (p.Asp502=) c.1421A= (p.Asp474=) c.1349A= (p.Asp450=) c.644A= (p.Asp215=) | |
| 9 | g.137762693A>C | CA375768503 | EHMT1 | c.1520A>C (p.Asp507Ala) c.1406A>C (p.Asp469Ala) c.1427A>C (p.Asp476Ala) c.1560A>C (n.1560A>C) c.1465A>C c.1147A>C c.689A>C (p.Asp230Ala) c.*1255A>C (n.*1255A>C) c.377A>C (p.Asp126Ala) c.212A>C (p.Asp71Ala) c.613A>C c.1511A>C (p.Asp504Ala) c.1502A>C (p.Asp501Ala) c.1529A>C (p.Asp510Ala) c.1526A>C (p.Asp509Ala) c.1508A>C (p.Asp503Ala) c.1451A>C (p.Asp484Ala) c.-50A>C (n.-50A>C) c.1499A>C (p.Asp500Ala) c.1505A>C (p.Asp502Ala) c.1421A>C (p.Asp474Ala) c.1349A>C (p.Asp450Ala) c.644A>C (p.Asp215Ala) | |
| 9 | g.137762693A>G | CA5374657 | EHMT1 | c.1520A>G (p.Asp507Gly) c.1406A>G (p.Asp469Gly) c.1427A>G (p.Asp476Gly) c.1560A>G (n.1560A>G) c.1465A>G c.1147A>G c.689A>G (p.Asp230Gly) c.*1255A>G (n.*1255A>G) c.377A>G (p.Asp126Gly) c.212A>G (p.Asp71Gly) c.613A>G c.1511A>G (p.Asp504Gly) c.1502A>G (p.Asp501Gly) c.1529A>G (p.Asp510Gly) c.1526A>G (p.Asp509Gly) c.1508A>G (p.Asp503Gly) c.1451A>G (p.Asp484Gly) c.-50A>G (n.-50A>G) c.1499A>G (p.Asp500Gly) c.1505A>G (p.Asp502Gly) c.1421A>G (p.Asp474Gly) c.1349A>G (p.Asp450Gly) c.644A>G (p.Asp215Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137762693A>T | CA375768494 | EHMT1 | c.1520A>T (p.Asp507Val) c.1406A>T (p.Asp469Val) c.1427A>T (p.Asp476Val) c.1560A>T (n.1560A>T) c.1465A>T c.1147A>T c.689A>T (p.Asp230Val) c.*1255A>T (n.*1255A>T) c.377A>T (p.Asp126Val) c.212A>T (p.Asp71Val) c.613A>T c.1511A>T (p.Asp504Val) c.1502A>T (p.Asp501Val) c.1529A>T (p.Asp510Val) c.1526A>T (p.Asp509Val) c.1508A>T (p.Asp503Val) c.1451A>T (p.Asp484Val) c.-50A>T (n.-50A>T) c.1499A>T (p.Asp500Val) c.1505A>T (p.Asp502Val) c.1421A>T (p.Asp474Val) c.1349A>T (p.Asp450Val) c.644A>T (p.Asp215Val) | gnomAD v4 |
| 9 | g.137762694T>A | CA375768508 | EHMT1 | c.1521T>A (p.Asp507Glu) c.1407T>A (p.Asp469Glu) c.1428T>A (p.Asp476Glu) c.1561T>A (n.1561T>A) c.1466T>A c.1148T>A c.690T>A (p.Asp230Glu) c.*1256T>A (n.*1256T>A) c.378T>A (p.Asp126Glu) c.213T>A (p.Asp71Glu) c.614T>A c.1512T>A (p.Asp504Glu) c.1503T>A (p.Asp501Glu) c.1530T>A (p.Asp510Glu) c.1527T>A (p.Asp509Glu) c.1509T>A (p.Asp503Glu) c.1452T>A (p.Asp484Glu) c.-49T>A (n.-49T>A) c.1500T>A (p.Asp500Glu) c.1506T>A (p.Asp502Glu) c.1422T>A (p.Asp474Glu) c.1350T>A (p.Asp450Glu) c.645T>A (p.Asp215Glu) | gnomAD v4 |
| 9 | g.137762694T>C | CA201792832 | EHMT1 | c.1521T>C (p.Asp507=) c.1407T>C (p.Asp469=) c.1428T>C (p.Asp476=) c.1561T>C (n.1561T>C) c.1466T>C c.1148T>C c.690T>C (p.Asp230=) c.*1256T>C (n.*1256T>C) c.378T>C (p.Asp126=) c.213T>C (p.Asp71=) c.614T>C c.1512T>C (p.Asp504=) c.1503T>C (p.Asp501=) c.1530T>C (p.Asp510=) c.1527T>C (p.Asp509=) c.1509T>C (p.Asp503=) c.1452T>C (p.Asp484=) c.-49T>C (n.-49T>C) c.1500T>C (p.Asp500=) c.1506T>C (p.Asp502=) c.1422T>C (p.Asp474=) c.1350T>C (p.Asp450=) c.645T>C (p.Asp215=) | dbSNP gnomAD v4 |
| 9 | g.137762694T>G | CA375768517 | EHMT1 | c.1521T>G (p.Asp507Glu) c.1407T>G (p.Asp469Glu) c.1428T>G (p.Asp476Glu) c.1561T>G (n.1561T>G) c.1466T>G c.1148T>G c.690T>G (p.Asp230Glu) c.*1256T>G (n.*1256T>G) c.378T>G (p.Asp126Glu) c.213T>G (p.Asp71Glu) c.614T>G c.1512T>G (p.Asp504Glu) c.1503T>G (p.Asp501Glu) c.1530T>G (p.Asp510Glu) c.1527T>G (p.Asp509Glu) c.1509T>G (p.Asp503Glu) c.1452T>G (p.Asp484Glu) c.-49T>G (n.-49T>G) c.1500T>G (p.Asp500Glu) c.1506T>G (p.Asp502Glu) c.1422T>G (p.Asp474Glu) c.1350T>G (p.Asp450Glu) c.645T>G (p.Asp215Glu) | |
| 9 | g.137762694T= | CA1884659554 | EHMT1 | c.1521T= (p.Asp507=) c.1407T= (p.Asp469=) c.1428T= (p.Asp476=) c.1561T= (n.1561T=) c.1466T= c.1148T= c.690T= (p.Asp230=) c.*1256T= (n.*1256T=) c.378T= (p.Asp126=) c.213T= (p.Asp71=) c.614T= c.1512T= (p.Asp504=) c.1503T= (p.Asp501=) c.1530T= (p.Asp510=) c.1527T= (p.Asp509=) c.1509T= (p.Asp503=) c.1452T= (p.Asp484=) c.-49T= (n.-49T=) c.1500T= (p.Asp500=) c.1506T= (p.Asp502=) c.1422T= (p.Asp474=) c.1350T= (p.Asp450=) c.645T= (p.Asp215=) | |
| 9 | g.137762695G>A | CA375768537 | EHMT1 | c.1522G>A (p.Val508Met) c.1408G>A (p.Val470Met) c.1429G>A (p.Val477Met) c.1562G>A (n.1562G>A) c.1467G>A c.1149G>A c.691G>A (p.Val231Met) c.*1257G>A (n.*1257G>A) c.379G>A (p.Val127Met) c.214G>A (p.Val72Met) c.615G>A c.1513G>A (p.Val505Met) c.1504G>A (p.Val502Met) c.1531G>A (p.Val511Met) c.1528G>A (p.Val510Met) c.1510G>A (p.Val504Met) c.1453G>A (p.Val485Met) c.-48G>A (n.-48G>A) c.1501G>A (p.Val501Met) c.1507G>A (p.Val503Met) c.1423G>A (p.Val475Met) c.1351G>A (p.Val451Met) c.646G>A (p.Val216Met) | |
| 9 | g.137762695G>C | CA375768546 | EHMT1 | c.1522G>C (p.Val508Leu) c.1408G>C (p.Val470Leu) c.1429G>C (p.Val477Leu) c.1562G>C (n.1562G>C) c.1467G>C c.1149G>C c.691G>C (p.Val231Leu) c.*1257G>C (n.*1257G>C) c.379G>C (p.Val127Leu) c.214G>C (p.Val72Leu) c.615G>C c.1513G>C (p.Val505Leu) c.1504G>C (p.Val502Leu) c.1531G>C (p.Val511Leu) c.1528G>C (p.Val510Leu) c.1510G>C (p.Val504Leu) c.1453G>C (p.Val485Leu) c.-48G>C (n.-48G>C) c.1501G>C (p.Val501Leu) c.1507G>C (p.Val503Leu) c.1423G>C (p.Val475Leu) c.1351G>C (p.Val451Leu) c.646G>C (p.Val216Leu) | |
| 9 | g.137762695G>T | CA375768552 | EHMT1 | c.1522G>T (p.Val508Leu) c.1408G>T (p.Val470Leu) c.1429G>T (p.Val477Leu) c.1562G>T (n.1562G>T) c.1467G>T c.1149G>T c.691G>T (p.Val231Leu) c.*1257G>T (n.*1257G>T) c.379G>T (p.Val127Leu) c.214G>T (p.Val72Leu) c.615G>T c.1513G>T (p.Val505Leu) c.1504G>T (p.Val502Leu) c.1531G>T (p.Val511Leu) c.1528G>T (p.Val510Leu) c.1510G>T (p.Val504Leu) c.1453G>T (p.Val485Leu) c.-48G>T (n.-48G>T) c.1501G>T (p.Val501Leu) c.1507G>T (p.Val503Leu) c.1423G>T (p.Val475Leu) c.1351G>T (p.Val451Leu) c.646G>T (p.Val216Leu) | |
| 9 | g.137762696T>A | CA375768557 | EHMT1 | c.1523T>A (p.Val508Glu) c.1409T>A (p.Val470Glu) c.1430T>A (p.Val477Glu) c.1563T>A (n.1563T>A) c.1468T>A c.1150T>A c.692T>A (p.Val231Glu) c.*1258T>A (n.*1258T>A) c.380T>A (p.Val127Glu) c.215T>A (p.Val72Glu) c.616T>A c.1514T>A (p.Val505Glu) c.1505T>A (p.Val502Glu) c.1532T>A (p.Val511Glu) c.1529T>A (p.Val510Glu) c.1511T>A (p.Val504Glu) c.1454T>A (p.Val485Glu) c.-47T>A (n.-47T>A) c.1502T>A (p.Val501Glu) c.1508T>A (p.Val503Glu) c.1424T>A (p.Val475Glu) c.1352T>A (p.Val451Glu) c.647T>A (p.Val216Glu) | |
| 9 | g.137762696T>C | CA375768560 | EHMT1 | c.1523T>C (p.Val508Ala) c.1409T>C (p.Val470Ala) c.1430T>C (p.Val477Ala) c.1563T>C (n.1563T>C) c.1468T>C c.1150T>C c.692T>C (p.Val231Ala) c.*1258T>C (n.*1258T>C) c.380T>C (p.Val127Ala) c.215T>C (p.Val72Ala) c.616T>C c.1514T>C (p.Val505Ala) c.1505T>C (p.Val502Ala) c.1532T>C (p.Val511Ala) c.1529T>C (p.Val510Ala) c.1511T>C (p.Val504Ala) c.1454T>C (p.Val485Ala) c.-47T>C (n.-47T>C) c.1502T>C (p.Val501Ala) c.1508T>C (p.Val503Ala) c.1424T>C (p.Val475Ala) c.1352T>C (p.Val451Ala) c.647T>C (p.Val216Ala) | |
| 9 | g.137762696T>G | CA375768571 | EHMT1 | c.1523T>G (p.Val508Gly) c.1409T>G (p.Val470Gly) c.1430T>G (p.Val477Gly) c.1563T>G (n.1563T>G) c.1468T>G c.1150T>G c.692T>G (p.Val231Gly) c.*1258T>G (n.*1258T>G) c.380T>G (p.Val127Gly) c.215T>G (p.Val72Gly) c.616T>G c.1514T>G (p.Val505Gly) c.1505T>G (p.Val502Gly) c.1532T>G (p.Val511Gly) c.1529T>G (p.Val510Gly) c.1511T>G (p.Val504Gly) c.1454T>G (p.Val485Gly) c.-47T>G (n.-47T>G) c.1502T>G (p.Val501Gly) c.1508T>G (p.Val503Gly) c.1424T>G (p.Val475Gly) c.1352T>G (p.Val451Gly) c.647T>G (p.Val216Gly) | |
| 9 | g.137762697G>A | CA467873858 | EHMT1 | c.1524G>A (p.Val508=) c.1410G>A (p.Val470=) c.1431G>A (p.Val477=) c.1564G>A (n.1564G>A) c.1469G>A c.1151G>A c.693G>A (p.Val231=) c.*1259G>A (n.*1259G>A) c.381G>A (p.Val127=) c.216G>A (p.Val72=) c.617G>A c.1515G>A (p.Val505=) c.1506G>A (p.Val502=) c.1533G>A (p.Val511=) c.1530G>A (p.Val510=) c.1512G>A (p.Val504=) c.1455G>A (p.Val485=) c.-46G>A (n.-46G>A) c.1503G>A (p.Val501=) c.1509G>A (p.Val503=) c.1425G>A (p.Val475=) c.1353G>A (p.Val451=) c.648G>A (p.Val216=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137762697G>C | CA467873859 | EHMT1 | c.1524G>C (p.Val508=) c.1410G>C (p.Val470=) c.1431G>C (p.Val477=) c.1564G>C (n.1564G>C) c.1469G>C c.1151G>C c.693G>C (p.Val231=) c.*1259G>C (n.*1259G>C) c.381G>C (p.Val127=) c.216G>C (p.Val72=) c.617G>C c.1515G>C (p.Val505=) c.1506G>C (p.Val502=) c.1533G>C (p.Val511=) c.1530G>C (p.Val510=) c.1512G>C (p.Val504=) c.1455G>C (p.Val485=) c.-46G>C (n.-46G>C) c.1503G>C (p.Val501=) c.1509G>C (p.Val503=) c.1425G>C (p.Val475=) c.1353G>C (p.Val451=) c.648G>C (p.Val216=) | |
| 9 | g.137762697G= | CA1884659555 | EHMT1 | c.1524G= (p.Val508=) c.1410G= (p.Val470=) c.1431G= (p.Val477=) c.1564G= (n.1564G=) c.1469G= c.1151G= c.693G= (p.Val231=) c.*1259G= (n.*1259G=) c.381G= (p.Val127=) c.216G= (p.Val72=) c.617G= c.1515G= (p.Val505=) c.1506G= (p.Val502=) c.1533G= (p.Val511=) c.1530G= (p.Val510=) c.1512G= (p.Val504=) c.1455G= (p.Val485=) c.-46G= (n.-46G=) c.1503G= (p.Val501=) c.1509G= (p.Val503=) c.1425G= (p.Val475=) c.1353G= (p.Val451=) c.648G= (p.Val216=) | |
| 9 | g.137762697G>T | CA467873860 | EHMT1 | c.1524G>T (p.Val508=) c.1410G>T (p.Val470=) c.1431G>T (p.Val477=) c.1564G>T (n.1564G>T) c.1469G>T c.1151G>T c.693G>T (p.Val231=) c.*1259G>T (n.*1259G>T) c.381G>T (p.Val127=) c.216G>T (p.Val72=) c.617G>T c.1515G>T (p.Val505=) c.1506G>T (p.Val502=) c.1533G>T (p.Val511=) c.1530G>T (p.Val510=) c.1512G>T (p.Val504=) c.1455G>T (p.Val485=) c.-46G>T (n.-46G>T) c.1503G>T (p.Val501=) c.1509G>T (p.Val503=) c.1425G>T (p.Val475=) c.1353G>T (p.Val451=) c.648G>T (p.Val216=) | |
| 9 | g.137762698C>A | CA375768575 | EHMT1 | c.1525C>A (p.Leu509Met) c.1411C>A (p.Leu471Met) c.1432C>A (p.Leu478Met) c.1565C>A (n.1565C>A) c.1470C>A c.1152C>A c.694C>A (p.Leu232Met) c.*1260C>A (n.*1260C>A) c.382C>A (p.Leu128Met) c.217C>A (p.Leu73Met) c.618C>A c.1516C>A (p.Leu506Met) c.1507C>A (p.Leu503Met) c.1534C>A (p.Leu512Met) c.1531C>A (p.Leu511Met) c.1513C>A (p.Leu505Met) c.1456C>A (p.Leu486Met) c.-45C>A (n.-45C>A) c.1504C>A (p.Leu502Met) c.1510C>A (p.Leu504Met) c.1426C>A (p.Leu476Met) c.1354C>A (p.Leu452Met) c.649C>A (p.Leu217Met) | |
| 9 | g.137762698C= | CA1884659556 | EHMT1 | c.1525C= (p.Leu509=) c.1411C= (p.Leu471=) c.1432C= (p.Leu478=) c.1565C= (n.1565C=) c.1470C= c.1152C= c.694C= (p.Leu232=) c.*1260C= (n.*1260C=) c.382C= (p.Leu128=) c.217C= (p.Leu73=) c.618C= c.1516C= (p.Leu506=) c.1507C= (p.Leu503=) c.1534C= (p.Leu512=) c.1531C= (p.Leu511=) c.1513C= (p.Leu505=) c.1456C= (p.Leu486=) c.-45C= (n.-45C=) c.1504C= (p.Leu502=) c.1510C= (p.Leu504=) c.1426C= (p.Leu476=) c.1354C= (p.Leu452=) c.649C= (p.Leu217=) | |
| 9 | g.137762698C>G | CA375768577 | EHMT1 | c.1525C>G (p.Leu509Val) c.1411C>G (p.Leu471Val) c.1432C>G (p.Leu478Val) c.1565C>G (n.1565C>G) c.1470C>G c.1152C>G c.694C>G (p.Leu232Val) c.*1260C>G (n.*1260C>G) c.382C>G (p.Leu128Val) c.217C>G (p.Leu73Val) c.618C>G c.1516C>G (p.Leu506Val) c.1507C>G (p.Leu503Val) c.1534C>G (p.Leu512Val) c.1531C>G (p.Leu511Val) c.1513C>G (p.Leu505Val) c.1456C>G (p.Leu486Val) c.-45C>G (n.-45C>G) c.1504C>G (p.Leu502Val) c.1510C>G (p.Leu504Val) c.1426C>G (p.Leu476Val) c.1354C>G (p.Leu452Val) c.649C>G (p.Leu217Val) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137762698C>T | CA467873861 | EHMT1 | c.1525C>T (p.Leu509=) c.1411C>T (p.Leu471=) c.1432C>T (p.Leu478=) c.1565C>T (n.1565C>T) c.1470C>T c.1152C>T c.694C>T (p.Leu232=) c.*1260C>T (n.*1260C>T) c.382C>T (p.Leu128=) c.217C>T (p.Leu73=) c.618C>T c.1516C>T (p.Leu506=) c.1507C>T (p.Leu503=) c.1534C>T (p.Leu512=) c.1531C>T (p.Leu511=) c.1513C>T (p.Leu505=) c.1456C>T (p.Leu486=) c.-45C>T (n.-45C>T) c.1504C>T (p.Leu502=) c.1510C>T (p.Leu504=) c.1426C>T (p.Leu476=) c.1354C>T (p.Leu452=) c.649C>T (p.Leu217=) | |
| 9 | g.137762699T>A | CA375768579 | EHMT1 | c.1526T>A (p.Leu509Gln) c.1412T>A (p.Leu471Gln) c.1433T>A (p.Leu478Gln) c.1566T>A (n.1566T>A) c.1471T>A c.1153T>A c.695T>A (p.Leu232Gln) c.*1261T>A (n.*1261T>A) c.383T>A (p.Leu128Gln) c.218T>A (p.Leu73Gln) c.619T>A c.1517T>A (p.Leu506Gln) c.1508T>A (p.Leu503Gln) c.1535T>A (p.Leu512Gln) c.1532T>A (p.Leu511Gln) c.1514T>A (p.Leu505Gln) c.1457T>A (p.Leu486Gln) c.-44T>A (n.-44T>A) c.1505T>A (p.Leu502Gln) c.1511T>A (p.Leu504Gln) c.1427T>A (p.Leu476Gln) c.1355T>A (p.Leu452Gln) c.650T>A (p.Leu217Gln) | gnomAD v4 |
| 9 | g.137762699T>C | CA375768585 | EHMT1 | c.1526T>C (p.Leu509Pro) c.1412T>C (p.Leu471Pro) c.1433T>C (p.Leu478Pro) c.1566T>C (n.1566T>C) c.1471T>C c.1153T>C c.695T>C (p.Leu232Pro) c.*1261T>C (n.*1261T>C) c.383T>C (p.Leu128Pro) c.218T>C (p.Leu73Pro) c.619T>C c.1517T>C (p.Leu506Pro) c.1508T>C (p.Leu503Pro) c.1535T>C (p.Leu512Pro) c.1532T>C (p.Leu511Pro) c.1514T>C (p.Leu505Pro) c.1457T>C (p.Leu486Pro) c.-44T>C (n.-44T>C) c.1505T>C (p.Leu502Pro) c.1511T>C (p.Leu504Pro) c.1427T>C (p.Leu476Pro) c.1355T>C (p.Leu452Pro) c.650T>C (p.Leu217Pro) | gnomAD v4 |
| 9 | g.137762699T>G | CA375768599 | EHMT1 | c.1526T>G (p.Leu509Arg) c.1412T>G (p.Leu471Arg) c.1433T>G (p.Leu478Arg) c.1566T>G (n.1566T>G) c.1471T>G c.1153T>G c.695T>G (p.Leu232Arg) c.*1261T>G (n.*1261T>G) c.383T>G (p.Leu128Arg) c.218T>G (p.Leu73Arg) c.619T>G c.1517T>G (p.Leu506Arg) c.1508T>G (p.Leu503Arg) c.1535T>G (p.Leu512Arg) c.1532T>G (p.Leu511Arg) c.1514T>G (p.Leu505Arg) c.1457T>G (p.Leu486Arg) c.-44T>G (n.-44T>G) c.1505T>G (p.Leu502Arg) c.1511T>G (p.Leu504Arg) c.1427T>G (p.Leu476Arg) c.1355T>G (p.Leu452Arg) c.650T>G (p.Leu217Arg) | |
| 9 | g.137762700G>A | CA5374658 | EHMT1 | c.1527G>A (p.Leu509=) c.1413G>A (p.Leu471=) c.1434G>A (p.Leu478=) c.1567G>A (n.1567G>A) c.1472G>A c.1154G>A c.696G>A (p.Leu232=) c.*1262G>A (n.*1262G>A) c.384G>A (p.Leu128=) c.219G>A (p.Leu73=) c.620G>A c.1518G>A (p.Leu506=) c.1509G>A (p.Leu503=) c.1536G>A (p.Leu512=) c.1533G>A (p.Leu511=) c.1515G>A (p.Leu505=) c.1458G>A (p.Leu486=) c.-43G>A (n.-43G>A) c.1506G>A (p.Leu502=) c.1512G>A (p.Leu504=) c.1428G>A (p.Leu476=) c.1356G>A (p.Leu452=) c.651G>A (p.Leu217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137762700G>C | CA467873862 | EHMT1 | c.1527G>C (p.Leu509=) c.1413G>C (p.Leu471=) c.1434G>C (p.Leu478=) c.1567G>C (n.1567G>C) c.1472G>C c.1154G>C c.696G>C (p.Leu232=) c.*1262G>C (n.*1262G>C) c.384G>C (p.Leu128=) c.219G>C (p.Leu73=) c.620G>C c.1518G>C (p.Leu506=) c.1509G>C (p.Leu503=) c.1536G>C (p.Leu512=) c.1533G>C (p.Leu511=) c.1515G>C (p.Leu505=) c.1458G>C (p.Leu486=) c.-43G>C (n.-43G>C) c.1506G>C (p.Leu502=) c.1512G>C (p.Leu504=) c.1428G>C (p.Leu476=) c.1356G>C (p.Leu452=) c.651G>C (p.Leu217=) | |
| 9 | g.137762700G= | CA1884659557 | EHMT1 | c.1527G= (p.Leu509=) c.1413G= (p.Leu471=) c.1434G= (p.Leu478=) c.1567G= (n.1567G=) c.1472G= c.1154G= c.696G= (p.Leu232=) c.*1262G= (n.*1262G=) c.384G= (p.Leu128=) c.219G= (p.Leu73=) c.620G= c.1518G= (p.Leu506=) c.1509G= (p.Leu503=) c.1536G= (p.Leu512=) c.1533G= (p.Leu511=) c.1515G= (p.Leu505=) c.1458G= (p.Leu486=) c.-43G= (n.-43G=) c.1506G= (p.Leu502=) c.1512G= (p.Leu504=) c.1428G= (p.Leu476=) c.1356G= (p.Leu452=) c.651G= (p.Leu217=) | |
| 9 | g.137762700G>T | CA467873863 | EHMT1 | c.1527G>T (p.Leu509=) c.1413G>T (p.Leu471=) c.1434G>T (p.Leu478=) c.1567G>T (n.1567G>T) c.1472G>T c.1154G>T c.696G>T (p.Leu232=) c.*1262G>T (n.*1262G>T) c.384G>T (p.Leu128=) c.219G>T (p.Leu73=) c.620G>T c.1518G>T (p.Leu506=) c.1509G>T (p.Leu503=) c.1536G>T (p.Leu512=) c.1533G>T (p.Leu511=) c.1515G>T (p.Leu505=) c.1458G>T (p.Leu486=) c.-43G>T (n.-43G>T) c.1506G>T (p.Leu502=) c.1512G>T (p.Leu504=) c.1428G>T (p.Leu476=) c.1356G>T (p.Leu452=) c.651G>T (p.Leu217=) | |
| 9 | g.137762701G>A | CA375768612 | EHMT1 | c.1528G>A (p.Glu510Lys) c.1414G>A (p.Glu472Lys) c.1435G>A (p.Glu479Lys) c.1568G>A (n.1568G>A) c.1473G>A c.1155G>A c.697G>A (p.Glu233Lys) c.*1263G>A (n.*1263G>A) c.385G>A (p.Glu129Lys) c.220G>A (p.Glu74Lys) c.621G>A c.1519G>A (p.Glu507Lys) c.1510G>A (p.Glu504Lys) c.1537G>A (p.Glu513Lys) c.1534G>A (p.Glu512Lys) c.1516G>A (p.Glu506Lys) c.1459G>A (p.Glu487Lys) c.-42G>A (n.-42G>A) c.1507G>A (p.Glu503Lys) c.1513G>A (p.Glu505Lys) c.1429G>A (p.Glu477Lys) c.1357G>A (p.Glu453Lys) c.652G>A (p.Glu218Lys) | gnomAD v4 |
| 9 | g.137762701G>C | CA375768610 | EHMT1 | c.1528G>C (p.Glu510Gln) c.1414G>C (p.Glu472Gln) c.1435G>C (p.Glu479Gln) c.1568G>C (n.1568G>C) c.1473G>C c.1155G>C c.697G>C (p.Glu233Gln) c.*1263G>C (n.*1263G>C) c.385G>C (p.Glu129Gln) c.220G>C (p.Glu74Gln) c.621G>C c.1519G>C (p.Glu507Gln) c.1510G>C (p.Glu504Gln) c.1537G>C (p.Glu513Gln) c.1534G>C (p.Glu512Gln) c.1516G>C (p.Glu506Gln) c.1459G>C (p.Glu487Gln) c.-42G>C (n.-42G>C) c.1507G>C (p.Glu503Gln) c.1513G>C (p.Glu505Gln) c.1429G>C (p.Glu477Gln) c.1357G>C (p.Glu453Gln) c.652G>C (p.Glu218Gln) | gnomAD v4 |
| 9 | g.137762701G>T | CA375768613 | EHMT1 | c.1528G>T (p.Glu510Ter) c.1414G>T (p.Glu472Ter) c.1435G>T (p.Glu479Ter) c.1568G>T (n.1568G>T) c.1473G>T c.1155G>T c.697G>T (p.Glu233Ter) c.*1263G>T (n.*1263G>T) c.385G>T (p.Glu129Ter) c.220G>T (p.Glu74Ter) c.621G>T c.1519G>T (p.Glu507Ter) c.1510G>T (p.Glu504Ter) c.1537G>T (p.Glu513Ter) c.1534G>T (p.Glu512Ter) c.1516G>T (p.Glu506Ter) c.1459G>T (p.Glu487Ter) c.-42G>T (n.-42G>T) c.1507G>T (p.Glu503Ter) c.1513G>T (p.Glu505Ter) c.1429G>T (p.Glu477Ter) c.1357G>T (p.Glu453Ter) c.652G>T (p.Glu218Ter) | |
| 9 | g.137762701_137762705delinsGAGAC | CA1884659558 | EHMT1 | c.1528_1532delinsGAGAC (p.Glu510=) c.1414_1418delinsGAGAC (p.Glu472=) c.1435_1439delinsGAGAC (p.Glu479=) c.1568_1572delinsGAGAC (n.1568_1572delinsGAGAC) c.1473_1477delinsGAGAC c.1155_1159delinsGAGAC c.697_701delinsGAGAC (p.Glu233=) c.*1263_*1267delinsGAGAC (n.*1263_*1267delinsGAGAC) c.385_389delinsGAGAC (p.Glu129=) c.220_224delinsGAGAC (p.Glu74=) c.621_625delinsGAGAC c.1519_1523delinsGAGAC (p.Glu507=) c.1510_1514delinsGAGAC (p.Glu504=) c.1537_1541delinsGAGAC (p.Glu513=) c.1534_1538delinsGAGAC (p.Glu512=) c.1516_1520delinsGAGAC (p.Glu506=) c.1459_1463delinsGAGAC (p.Glu487=) c.-42_-38delinsGAGAC (n.-42_-38delinsGAGAC) c.1507_1511delinsGAGAC (p.Glu503=) c.1513_1517delinsGAGAC (p.Glu505=) c.1429_1433delinsGAGAC (p.Glu477=) c.1357_1361delinsGAGAC (p.Glu453=) c.652_656delinsGAGAC (p.Glu218=) | |
| 9 | g.137762702A= | CA1884659559 | EHMT1 | c.1529A= (p.Glu510=) c.1415A= (p.Glu472=) c.1436A= (p.Glu479=) c.1569A= (n.1569A=) c.1474A= c.1156A= c.698A= (p.Glu233=) c.*1264A= (n.*1264A=) c.386A= (p.Glu129=) c.221A= (p.Glu74=) c.622A= c.1520A= (p.Glu507=) c.1511A= (p.Glu504=) c.1538A= (p.Glu513=) c.1535A= (p.Glu512=) c.1517A= (p.Glu506=) c.1460A= (p.Glu487=) c.-41A= (n.-41A=) c.1508A= (p.Glu503=) c.1514A= (p.Glu505=) c.1430A= (p.Glu477=) c.1358A= (p.Glu453=) c.653A= (p.Glu218=) | |
| 9 | g.137762702A>C | CA375768616 | EHMT1 | c.1529A>C (p.Glu510Ala) c.1415A>C (p.Glu472Ala) c.1436A>C (p.Glu479Ala) c.1569A>C (n.1569A>C) c.1474A>C c.1156A>C c.698A>C (p.Glu233Ala) c.*1264A>C (n.*1264A>C) c.386A>C (p.Glu129Ala) c.221A>C (p.Glu74Ala) c.622A>C c.1520A>C (p.Glu507Ala) c.1511A>C (p.Glu504Ala) c.1538A>C (p.Glu513Ala) c.1535A>C (p.Glu512Ala) c.1517A>C (p.Glu506Ala) c.1460A>C (p.Glu487Ala) c.-41A>C (n.-41A>C) c.1508A>C (p.Glu503Ala) c.1514A>C (p.Glu505Ala) c.1430A>C (p.Glu477Ala) c.1358A>C (p.Glu453Ala) c.653A>C (p.Glu218Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137762702A>G | CA375768618 | EHMT1 | c.1529A>G (p.Glu510Gly) c.1415A>G (p.Glu472Gly) c.1436A>G (p.Glu479Gly) c.1569A>G (n.1569A>G) c.1474A>G c.1156A>G c.698A>G (p.Glu233Gly) c.*1264A>G (n.*1264A>G) c.386A>G (p.Glu129Gly) c.221A>G (p.Glu74Gly) c.622A>G c.1520A>G (p.Glu507Gly) c.1511A>G (p.Glu504Gly) c.1538A>G (p.Glu513Gly) c.1535A>G (p.Glu512Gly) c.1517A>G (p.Glu506Gly) c.1460A>G (p.Glu487Gly) c.-41A>G (n.-41A>G) c.1508A>G (p.Glu503Gly) c.1514A>G (p.Glu505Gly) c.1430A>G (p.Glu477Gly) c.1358A>G (p.Glu453Gly) c.653A>G (p.Glu218Gly) | |
| 9 | g.137762702A>T | CA375768622 | EHMT1 | c.1529A>T (p.Glu510Val) c.1415A>T (p.Glu472Val) c.1436A>T (p.Glu479Val) c.1569A>T (n.1569A>T) c.1474A>T c.1156A>T c.698A>T (p.Glu233Val) c.*1264A>T (n.*1264A>T) c.386A>T (p.Glu129Val) c.221A>T (p.Glu74Val) c.622A>T c.1520A>T (p.Glu507Val) c.1511A>T (p.Glu504Val) c.1538A>T (p.Glu513Val) c.1535A>T (p.Glu512Val) c.1517A>T (p.Glu506Val) c.1460A>T (p.Glu487Val) c.-41A>T (n.-41A>T) c.1508A>T (p.Glu503Val) c.1514A>T (p.Glu505Val) c.1430A>T (p.Glu477Val) c.1358A>T (p.Glu453Val) c.653A>T (p.Glu218Val) | |
| 9 | g.137762706_137762709del | CA345048 | EHMT1 | c.1533_1536del (p.Asp512AlafsTer?) c.1419_1422del (p.Asp474AlafsTer?) c.1440_1443del (p.Asp481AlafsTer?) c.1573_1576del (n.1573_1576del) c.1478_1481del c.1160_1163del c.702_705del (p.Asp235AlafsTer?) c.*1268_*1271del (n.*1268_*1271del) c.390_393del (p.Asp131AlafsTer?) c.225_228del (p.Asp76AlafsTer?) c.626_629del c.1524_1527del (p.Asp509AlafsTer?) c.1515_1518del (p.Asp506AlafsTer?) c.1542_1545del (p.Asp515AlafsTer?) c.1539_1542del (p.Asp514AlafsTer?) c.1521_1524del (p.Asp508AlafsTer?) c.1464_1467del (p.Asp489AlafsTer?) c.-37_-34del (n.-37_-34del) c.1512_1515del (p.Asp505AlafsTer?) c.1518_1521del (p.Asp507AlafsTer?) c.1434_1437del (p.Asp479AlafsTer?) c.1362_1365del (p.Asp455AlafsTer?) c.657_660del (p.Asp220AlafsTer?) | ClinVar dbSNP |
| 9 | g.137762703G>A | CA467873864 | EHMT1 | c.1530G>A (p.Glu510=) c.1416G>A (p.Glu472=) c.1437G>A (p.Glu479=) c.1570G>A (n.1570G>A) c.1475G>A c.1157G>A c.699G>A (p.Glu233=) c.*1265G>A (n.*1265G>A) c.387G>A (p.Glu129=) c.222G>A (p.Glu74=) c.623G>A c.1521G>A (p.Glu507=) c.1512G>A (p.Glu504=) c.1539G>A (p.Glu513=) c.1536G>A (p.Glu512=) c.1518G>A (p.Glu506=) c.1461G>A (p.Glu487=) c.-40G>A (n.-40G>A) c.1509G>A (p.Glu503=) c.1515G>A (p.Glu505=) c.1431G>A (p.Glu477=) c.1359G>A (p.Glu453=) c.654G>A (p.Glu218=) | |
| 9 | g.137762703G>C | CA375768638 | EHMT1 | c.1530G>C (p.Glu510Asp) c.1416G>C (p.Glu472Asp) c.1437G>C (p.Glu479Asp) c.1570G>C (n.1570G>C) c.1475G>C c.1157G>C c.699G>C (p.Glu233Asp) c.*1265G>C (n.*1265G>C) c.387G>C (p.Glu129Asp) c.222G>C (p.Glu74Asp) c.623G>C c.1521G>C (p.Glu507Asp) c.1512G>C (p.Glu504Asp) c.1539G>C (p.Glu513Asp) c.1536G>C (p.Glu512Asp) c.1518G>C (p.Glu506Asp) c.1461G>C (p.Glu487Asp) c.-40G>C (n.-40G>C) c.1509G>C (p.Glu503Asp) c.1515G>C (p.Glu505Asp) c.1431G>C (p.Glu477Asp) c.1359G>C (p.Glu453Asp) c.654G>C (p.Glu218Asp) | |
| 9 | g.137762703G>T | CA375768641 | EHMT1 | c.1530G>T (p.Glu510Asp) c.1416G>T (p.Glu472Asp) c.1437G>T (p.Glu479Asp) c.1570G>T (n.1570G>T) c.1475G>T c.1157G>T c.699G>T (p.Glu233Asp) c.*1265G>T (n.*1265G>T) c.387G>T (p.Glu129Asp) c.222G>T (p.Glu74Asp) c.623G>T c.1521G>T (p.Glu507Asp) c.1512G>T (p.Glu504Asp) c.1539G>T (p.Glu513Asp) c.1536G>T (p.Glu512Asp) c.1518G>T (p.Glu506Asp) c.1461G>T (p.Glu487Asp) c.-40G>T (n.-40G>T) c.1509G>T (p.Glu503Asp) c.1515G>T (p.Glu505Asp) c.1431G>T (p.Glu477Asp) c.1359G>T (p.Glu453Asp) c.654G>T (p.Glu218Asp) | |
| 9 | g.137762703_137762704insT | CA2692881775 | EHMT1 | c.1530_1531insT (p.Thr511TyrfsTer?) c.1416_1417insT (p.Thr473TyrfsTer?) c.1437_1438insT (p.Thr480TyrfsTer?) c.1570_1571insT (n.1570_1571insT) c.1475_1476insT c.1157_1158insT c.699_700insT (p.Thr234TyrfsTer?) c.*1265_*1266insT (n.*1265_*1266insT) c.387_388insT (p.Thr130TyrfsTer?) c.222_223insT (p.Thr75TyrfsTer?) c.623_624insT c.1521_1522insT (p.Thr508TyrfsTer?) c.1512_1513insT (p.Thr505TyrfsTer?) c.1539_1540insT (p.Thr514TyrfsTer?) c.1536_1537insT (p.Thr513TyrfsTer?) c.1518_1519insT (p.Thr507TyrfsTer?) c.1461_1462insT (p.Thr488TyrfsTer?) c.-40_-39insT (n.-40_-39insT) c.1509_1510insT (p.Thr504TyrfsTer?) c.1515_1516insT (p.Thr506TyrfsTer?) c.1431_1432insT (p.Thr478TyrfsTer?) c.1359_1360insT (p.Thr454TyrfsTer?) c.654_655insT (p.Thr219TyrfsTer?) | gnomAD v4 |
| 9 | g.137762704A>C | CA375768649 | EHMT1 | c.1531A>C (p.Thr511Pro) c.1417A>C (p.Thr473Pro) c.1438A>C (p.Thr480Pro) c.1571A>C (n.1571A>C) c.1476A>C c.1158A>C c.700A>C (p.Thr234Pro) c.*1266A>C (n.*1266A>C) c.388A>C (p.Thr130Pro) c.223A>C (p.Thr75Pro) c.624A>C c.1522A>C (p.Thr508Pro) c.1513A>C (p.Thr505Pro) c.1540A>C (p.Thr514Pro) c.1537A>C (p.Thr513Pro) c.1519A>C (p.Thr507Pro) c.1462A>C (p.Thr488Pro) c.-39A>C (n.-39A>C) c.1510A>C (p.Thr504Pro) c.1516A>C (p.Thr506Pro) c.1432A>C (p.Thr478Pro) c.1360A>C (p.Thr454Pro) c.655A>C (p.Thr219Pro) | |
| 9 | g.137762704A>G | CA375768654 | EHMT1 | c.1531A>G (p.Thr511Ala) c.1417A>G (p.Thr473Ala) c.1438A>G (p.Thr480Ala) c.1571A>G (n.1571A>G) c.1476A>G c.1158A>G c.700A>G (p.Thr234Ala) c.*1266A>G (n.*1266A>G) c.388A>G (p.Thr130Ala) c.223A>G (p.Thr75Ala) c.624A>G c.1522A>G (p.Thr508Ala) c.1513A>G (p.Thr505Ala) c.1540A>G (p.Thr514Ala) c.1537A>G (p.Thr513Ala) c.1519A>G (p.Thr507Ala) c.1462A>G (p.Thr488Ala) c.-39A>G (n.-39A>G) c.1510A>G (p.Thr504Ala) c.1516A>G (p.Thr506Ala) c.1432A>G (p.Thr478Ala) c.1360A>G (p.Thr454Ala) c.655A>G (p.Thr219Ala) | |
| 9 | g.137762704A>T | CA375768657 | EHMT1 | c.1531A>T (p.Thr511Ser) c.1417A>T (p.Thr473Ser) c.1438A>T (p.Thr480Ser) c.1571A>T (n.1571A>T) c.1476A>T c.1158A>T c.700A>T (p.Thr234Ser) c.*1266A>T (n.*1266A>T) c.388A>T (p.Thr130Ser) c.223A>T (p.Thr75Ser) c.624A>T c.1522A>T (p.Thr508Ser) c.1513A>T (p.Thr505Ser) c.1540A>T (p.Thr514Ser) c.1537A>T (p.Thr513Ser) c.1519A>T (p.Thr507Ser) c.1462A>T (p.Thr488Ser) c.-39A>T (n.-39A>T) c.1510A>T (p.Thr504Ser) c.1516A>T (p.Thr506Ser) c.1432A>T (p.Thr478Ser) c.1360A>T (p.Thr454Ser) c.655A>T (p.Thr219Ser) | |
| 9 | g.137762705C>A | CA375768663 | EHMT1 | c.1532C>A (p.Thr511Lys) c.1418C>A (p.Thr473Lys) c.1439C>A (p.Thr480Lys) c.1572C>A (n.1572C>A) c.1477C>A c.1159C>A c.701C>A (p.Thr234Lys) c.*1267C>A (n.*1267C>A) c.389C>A (p.Thr130Lys) c.224C>A (p.Thr75Lys) c.625C>A c.1523C>A (p.Thr508Lys) c.1514C>A (p.Thr505Lys) c.1541C>A (p.Thr514Lys) c.1538C>A (p.Thr513Lys) c.1520C>A (p.Thr507Lys) c.1463C>A (p.Thr488Lys) c.-38C>A (n.-38C>A) c.1511C>A (p.Thr504Lys) c.1517C>A (p.Thr506Lys) c.1433C>A (p.Thr478Lys) c.1361C>A (p.Thr454Lys) c.656C>A (p.Thr219Lys) | gnomAD v4 |
| 9 | g.137762705C>G | CA375768668 | EHMT1 | c.1532C>G (p.Thr511Arg) c.1418C>G (p.Thr473Arg) c.1439C>G (p.Thr480Arg) c.1572C>G (n.1572C>G) c.1477C>G c.1159C>G c.701C>G (p.Thr234Arg) c.*1267C>G (n.*1267C>G) c.389C>G (p.Thr130Arg) c.224C>G (p.Thr75Arg) c.625C>G c.1523C>G (p.Thr508Arg) c.1514C>G (p.Thr505Arg) c.1541C>G (p.Thr514Arg) c.1538C>G (p.Thr513Arg) c.1520C>G (p.Thr507Arg) c.1463C>G (p.Thr488Arg) c.-38C>G (n.-38C>G) c.1511C>G (p.Thr504Arg) c.1517C>G (p.Thr506Arg) c.1433C>G (p.Thr478Arg) c.1361C>G (p.Thr454Arg) c.656C>G (p.Thr219Arg) | |
| 9 | g.137762705C>T | CA375768680 | EHMT1 | c.1532C>T (p.Thr511Ile) c.1418C>T (p.Thr473Ile) c.1439C>T (p.Thr480Ile) c.1572C>T (n.1572C>T) c.1477C>T c.1159C>T c.701C>T (p.Thr234Ile) c.*1267C>T (n.*1267C>T) c.389C>T (p.Thr130Ile) c.224C>T (p.Thr75Ile) c.625C>T c.1523C>T (p.Thr508Ile) c.1514C>T (p.Thr505Ile) c.1541C>T (p.Thr514Ile) c.1538C>T (p.Thr513Ile) c.1520C>T (p.Thr507Ile) c.1463C>T (p.Thr488Ile) c.-38C>T (n.-38C>T) c.1511C>T (p.Thr504Ile) c.1517C>T (p.Thr506Ile) c.1433C>T (p.Thr478Ile) c.1361C>T (p.Thr454Ile) c.656C>T (p.Thr219Ile) | |
| 9 | g.137762706A= | CA1884659560 | EHMT1 | c.1533A= (p.Thr511=) c.1419A= (p.Thr473=) c.1440A= (p.Thr480=) c.1573A= (n.1573A=) c.1478A= c.1160A= c.702A= (p.Thr234=) c.*1268A= (n.*1268A=) c.390A= (p.Thr130=) c.225A= (p.Thr75=) c.626A= c.1524A= (p.Thr508=) c.1515A= (p.Thr505=) c.1542A= (p.Thr514=) c.1539A= (p.Thr513=) c.1521A= (p.Thr507=) c.1464A= (p.Thr488=) c.-37A= (n.-37A=) c.1512A= (p.Thr504=) c.1518A= (p.Thr506=) c.1434A= (p.Thr478=) c.1362A= (p.Thr454=) c.657A= (p.Thr219=) | |
| 9 | g.137762706A>C | CA467873867 | EHMT1 | c.1533A>C (p.Thr511=) c.1419A>C (p.Thr473=) c.1440A>C (p.Thr480=) c.1573A>C (n.1573A>C) c.1478A>C c.1160A>C c.702A>C (p.Thr234=) c.*1268A>C (n.*1268A>C) c.390A>C (p.Thr130=) c.225A>C (p.Thr75=) c.626A>C c.1524A>C (p.Thr508=) c.1515A>C (p.Thr505=) c.1542A>C (p.Thr514=) c.1539A>C (p.Thr513=) c.1521A>C (p.Thr507=) c.1464A>C (p.Thr488=) c.-37A>C (n.-37A>C) c.1512A>C (p.Thr504=) c.1518A>C (p.Thr506=) c.1434A>C (p.Thr478=) c.1362A>C (p.Thr454=) c.657A>C (p.Thr219=) | |
| 9 | g.137762706A>G | CA467873866 | EHMT1 | c.1533A>G (p.Thr511=) c.1419A>G (p.Thr473=) c.1440A>G (p.Thr480=) c.1573A>G (n.1573A>G) c.1478A>G c.1160A>G c.702A>G (p.Thr234=) c.*1268A>G (n.*1268A>G) c.390A>G (p.Thr130=) c.225A>G (p.Thr75=) c.626A>G c.1524A>G (p.Thr508=) c.1515A>G (p.Thr505=) c.1542A>G (p.Thr514=) c.1539A>G (p.Thr513=) c.1521A>G (p.Thr507=) c.1464A>G (p.Thr488=) c.-37A>G (n.-37A>G) c.1512A>G (p.Thr504=) c.1518A>G (p.Thr506=) c.1434A>G (p.Thr478=) c.1362A>G (p.Thr454=) c.657A>G (p.Thr219=) | dbSNP |
| 9 | g.137762706A>T | CA467873865 | EHMT1 | c.1533A>T (p.Thr511=) c.1419A>T (p.Thr473=) c.1440A>T (p.Thr480=) c.1573A>T (n.1573A>T) c.1478A>T c.1160A>T c.702A>T (p.Thr234=) c.*1268A>T (n.*1268A>T) c.390A>T (p.Thr130=) c.225A>T (p.Thr75=) c.626A>T c.1524A>T (p.Thr508=) c.1515A>T (p.Thr505=) c.1542A>T (p.Thr514=) c.1539A>T (p.Thr513=) c.1521A>T (p.Thr507=) c.1464A>T (p.Thr488=) c.-37A>T (n.-37A>T) c.1512A>T (p.Thr504=) c.1518A>T (p.Thr506=) c.1434A>T (p.Thr478=) c.1362A>T (p.Thr454=) c.657A>T (p.Thr219=) | |
| 9 | g.137762707G>A | CA375768698 | EHMT1 | c.1534G>A (p.Asp512Asn) c.1420G>A (p.Asp474Asn) c.1441G>A (p.Asp481Asn) c.1574G>A (n.1574G>A) c.1479G>A c.1161G>A c.703G>A (p.Asp235Asn) c.*1269G>A (n.*1269G>A) c.391G>A (p.Asp131Asn) c.226G>A (p.Asp76Asn) c.627G>A c.1525G>A (p.Asp509Asn) c.1516G>A (p.Asp506Asn) c.1543G>A (p.Asp515Asn) c.1540G>A (p.Asp514Asn) c.1522G>A (p.Asp508Asn) c.1465G>A (p.Asp489Asn) c.-36G>A (n.-36G>A) c.1513G>A (p.Asp505Asn) c.1519G>A (p.Asp507Asn) c.1435G>A (p.Asp479Asn) c.1363G>A (p.Asp455Asn) c.658G>A (p.Asp220Asn) | |
| 9 | g.137762707G>C | CA375768688 | EHMT1 | c.1534G>C (p.Asp512His) c.1420G>C (p.Asp474His) c.1441G>C (p.Asp481His) c.1574G>C (n.1574G>C) c.1479G>C c.1161G>C c.703G>C (p.Asp235His) c.*1269G>C (n.*1269G>C) c.391G>C (p.Asp131His) c.226G>C (p.Asp76His) c.627G>C c.1525G>C (p.Asp509His) c.1516G>C (p.Asp506His) c.1543G>C (p.Asp515His) c.1540G>C (p.Asp514His) c.1522G>C (p.Asp508His) c.1465G>C (p.Asp489His) c.-36G>C (n.-36G>C) c.1513G>C (p.Asp505His) c.1519G>C (p.Asp507His) c.1435G>C (p.Asp479His) c.1363G>C (p.Asp455His) c.658G>C (p.Asp220His) | COSMIC COSMIC |
| 9 | g.137762707G= | CA1884659561 | EHMT1 | c.1534G= (p.Asp512=) c.1420G= (p.Asp474=) c.1441G= (p.Asp481=) c.1574G= (n.1574G=) c.1479G= c.1161G= c.703G= (p.Asp235=) c.*1269G= (n.*1269G=) c.391G= (p.Asp131=) c.226G= (p.Asp76=) c.627G= c.1525G= (p.Asp509=) c.1516G= (p.Asp506=) c.1543G= (p.Asp515=) c.1540G= (p.Asp514=) c.1522G= (p.Asp508=) c.1465G= (p.Asp489=) c.-36G= (n.-36G=) c.1513G= (p.Asp505=) c.1519G= (p.Asp507=) c.1435G= (p.Asp479=) c.1363G= (p.Asp455=) c.658G= (p.Asp220=) | |
| 9 | g.137762707G>T | CA375768684 | EHMT1 | c.1534G>T (p.Asp512Tyr) c.1420G>T (p.Asp474Tyr) c.1441G>T (p.Asp481Tyr) c.1574G>T (n.1574G>T) c.1479G>T c.1161G>T c.703G>T (p.Asp235Tyr) c.*1269G>T (n.*1269G>T) c.391G>T (p.Asp131Tyr) c.226G>T (p.Asp76Tyr) c.627G>T c.1525G>T (p.Asp509Tyr) c.1516G>T (p.Asp506Tyr) c.1543G>T (p.Asp515Tyr) c.1540G>T (p.Asp514Tyr) c.1522G>T (p.Asp508Tyr) c.1465G>T (p.Asp489Tyr) c.-36G>T (n.-36G>T) c.1513G>T (p.Asp505Tyr) c.1519G>T (p.Asp507Tyr) c.1435G>T (p.Asp479Tyr) c.1363G>T (p.Asp455Tyr) c.658G>T (p.Asp220Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137762708A>C | CA375768705 | EHMT1 | c.1535A>C (p.Asp512Ala) c.1421A>C (p.Asp474Ala) c.1442A>C (p.Asp481Ala) c.1575A>C (n.1575A>C) c.1480A>C c.1162A>C c.704A>C (p.Asp235Ala) c.*1270A>C (n.*1270A>C) c.392A>C (p.Asp131Ala) c.227A>C (p.Asp76Ala) c.628A>C c.1526A>C (p.Asp509Ala) c.1517A>C (p.Asp506Ala) c.1544A>C (p.Asp515Ala) c.1541A>C (p.Asp514Ala) c.1523A>C (p.Asp508Ala) c.1466A>C (p.Asp489Ala) c.-35A>C (n.-35A>C) c.1514A>C (p.Asp505Ala) c.1520A>C (p.Asp507Ala) c.1436A>C (p.Asp479Ala) c.1364A>C (p.Asp455Ala) c.659A>C (p.Asp220Ala) | |
| 9 | g.137762708A>G | CA375768725 | EHMT1 | c.1535A>G (p.Asp512Gly) c.1421A>G (p.Asp474Gly) c.1442A>G (p.Asp481Gly) c.1575A>G (n.1575A>G) c.1480A>G c.1162A>G c.704A>G (p.Asp235Gly) c.*1270A>G (n.*1270A>G) c.392A>G (p.Asp131Gly) c.227A>G (p.Asp76Gly) c.628A>G c.1526A>G (p.Asp509Gly) c.1517A>G (p.Asp506Gly) c.1544A>G (p.Asp515Gly) c.1541A>G (p.Asp514Gly) c.1523A>G (p.Asp508Gly) c.1466A>G (p.Asp489Gly) c.-35A>G (n.-35A>G) c.1514A>G (p.Asp505Gly) c.1520A>G (p.Asp507Gly) c.1436A>G (p.Asp479Gly) c.1364A>G (p.Asp455Gly) c.659A>G (p.Asp220Gly) | |
| 9 | g.137762708A>T | CA375768743 | EHMT1 | c.1535A>T (p.Asp512Val) c.1421A>T (p.Asp474Val) c.1442A>T (p.Asp481Val) c.1575A>T (n.1575A>T) c.1480A>T c.1162A>T c.704A>T (p.Asp235Val) c.*1270A>T (n.*1270A>T) c.392A>T (p.Asp131Val) c.227A>T (p.Asp76Val) c.628A>T c.1526A>T (p.Asp509Val) c.1517A>T (p.Asp506Val) c.1544A>T (p.Asp515Val) c.1541A>T (p.Asp514Val) c.1523A>T (p.Asp508Val) c.1466A>T (p.Asp489Val) c.-35A>T (n.-35A>T) c.1514A>T (p.Asp505Val) c.1520A>T (p.Asp507Val) c.1436A>T (p.Asp479Val) c.1364A>T (p.Asp455Val) c.659A>T (p.Asp220Val) | |
| 9 | g.137762709C>A | CA375768748 | EHMT1 | c.1536C>A (p.Asp512Glu) c.1422C>A (p.Asp474Glu) c.1443C>A (p.Asp481Glu) c.1576C>A (n.1576C>A) c.1481C>A c.1163C>A c.705C>A (p.Asp235Glu) c.*1271C>A (n.*1271C>A) c.393C>A (p.Asp131Glu) c.228C>A (p.Asp76Glu) c.629C>A c.1527C>A (p.Asp509Glu) c.1518C>A (p.Asp506Glu) c.1545C>A (p.Asp515Glu) c.1542C>A (p.Asp514Glu) c.1524C>A (p.Asp508Glu) c.1467C>A (p.Asp489Glu) c.-34C>A (n.-34C>A) c.1515C>A (p.Asp505Glu) c.1521C>A (p.Asp507Glu) c.1437C>A (p.Asp479Glu) c.1365C>A (p.Asp455Glu) c.660C>A (p.Asp220Glu) | gnomAD v4 |
| 9 | g.137762709C= | CA1884659562 | EHMT1 | c.1536C= (p.Asp512=) c.1422C= (p.Asp474=) c.1443C= (p.Asp481=) c.1576C= (n.1576C=) c.1481C= c.1163C= c.705C= (p.Asp235=) c.*1271C= (n.*1271C=) c.393C= (p.Asp131=) c.228C= (p.Asp76=) c.629C= c.1527C= (p.Asp509=) c.1518C= (p.Asp506=) c.1545C= (p.Asp515=) c.1542C= (p.Asp514=) c.1524C= (p.Asp508=) c.1467C= (p.Asp489=) c.-34C= (n.-34C=) c.1515C= (p.Asp505=) c.1521C= (p.Asp507=) c.1437C= (p.Asp479=) c.1365C= (p.Asp455=) c.660C= (p.Asp220=) | |
| 9 | g.137762709C>G | CA375768749 | EHMT1 | c.1536C>G (p.Asp512Glu) c.1422C>G (p.Asp474Glu) c.1443C>G (p.Asp481Glu) c.1576C>G (n.1576C>G) c.1481C>G c.1163C>G c.705C>G (p.Asp235Glu) c.*1271C>G (n.*1271C>G) c.393C>G (p.Asp131Glu) c.228C>G (p.Asp76Glu) c.629C>G c.1527C>G (p.Asp509Glu) c.1518C>G (p.Asp506Glu) c.1545C>G (p.Asp515Glu) c.1542C>G (p.Asp514Glu) c.1524C>G (p.Asp508Glu) c.1467C>G (p.Asp489Glu) c.-34C>G (n.-34C>G) c.1515C>G (p.Asp505Glu) c.1521C>G (p.Asp507Glu) c.1437C>G (p.Asp479Glu) c.1365C>G (p.Asp455Glu) c.660C>G (p.Asp220Glu) | |
| 9 | g.137762709C>T | CA5374659 | EHMT1 | c.1536C>T (p.Asp512=) c.1422C>T (p.Asp474=) c.1443C>T (p.Asp481=) c.1576C>T (n.1576C>T) c.1481C>T c.1163C>T c.705C>T (p.Asp235=) c.*1271C>T (n.*1271C>T) c.393C>T (p.Asp131=) c.228C>T (p.Asp76=) c.629C>T c.1527C>T (p.Asp509=) c.1518C>T (p.Asp506=) c.1545C>T (p.Asp515=) c.1542C>T (p.Asp514=) c.1524C>T (p.Asp508=) c.1467C>T (p.Asp489=) c.-34C>T (n.-34C>T) c.1515C>T (p.Asp505=) c.1521C>T (p.Asp507=) c.1437C>T (p.Asp479=) c.1365C>T (p.Asp455=) c.660C>T (p.Asp220=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137762710G>A | CA5374660 | EHMT1 | c.1537G>A (p.Gly513Ser) c.1423G>A (p.Gly475Ser) c.1444G>A (p.Gly482Ser) c.1577G>A (n.1577G>A) c.1482G>A c.1164G>A c.706G>A (p.Gly236Ser) c.*1272G>A (n.*1272G>A) c.394G>A (p.Gly132Ser) c.229G>A (p.Gly77Ser) c.630G>A c.1528G>A (p.Gly510Ser) c.1519G>A (p.Gly507Ser) c.1546G>A (p.Gly516Ser) c.1543G>A (p.Gly515Ser) c.1525G>A (p.Gly509Ser) c.1468G>A (p.Gly490Ser) c.-33G>A (n.-33G>A) c.1516G>A (p.Gly506Ser) c.1522G>A (p.Gly508Ser) c.1438G>A (p.Gly480Ser) c.1366G>A (p.Gly456Ser) c.661G>A (p.Gly221Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137762710G>C | CA375768751 | EHMT1 | c.1537G>C (p.Gly513Arg) c.1423G>C (p.Gly475Arg) c.1444G>C (p.Gly482Arg) c.1577G>C (n.1577G>C) c.1482G>C c.1164G>C c.706G>C (p.Gly236Arg) c.*1272G>C (n.*1272G>C) c.394G>C (p.Gly132Arg) c.229G>C (p.Gly77Arg) c.630G>C c.1528G>C (p.Gly510Arg) c.1519G>C (p.Gly507Arg) c.1546G>C (p.Gly516Arg) c.1543G>C (p.Gly515Arg) c.1525G>C (p.Gly509Arg) c.1468G>C (p.Gly490Arg) c.-33G>C (n.-33G>C) c.1516G>C (p.Gly506Arg) c.1522G>C (p.Gly508Arg) c.1438G>C (p.Gly480Arg) c.1366G>C (p.Gly456Arg) c.661G>C (p.Gly221Arg) | gnomAD v4 |
| 9 | g.137762710G= | CA1884659563 | EHMT1 | c.1537G= (p.Gly513=) c.1423G= (p.Gly475=) c.1444G= (p.Gly482=) c.1577G= (n.1577G=) c.1482G= c.1164G= c.706G= (p.Gly236=) c.*1272G= (n.*1272G=) c.394G= (p.Gly132=) c.229G= (p.Gly77=) c.630G= c.1528G= (p.Gly510=) c.1519G= (p.Gly507=) c.1546G= (p.Gly516=) c.1543G= (p.Gly515=) c.1525G= (p.Gly509=) c.1468G= (p.Gly490=) c.-33G= (n.-33G=) c.1516G= (p.Gly506=) c.1522G= (p.Gly508=) c.1438G= (p.Gly480=) c.1366G= (p.Gly456=) c.661G= (p.Gly221=) | |
| 9 | g.137762710G>T | CA375768753 | EHMT1 | c.1537G>T (p.Gly513Cys) c.1423G>T (p.Gly475Cys) c.1444G>T (p.Gly482Cys) c.1577G>T (n.1577G>T) c.1482G>T c.1164G>T c.706G>T (p.Gly236Cys) c.*1272G>T (n.*1272G>T) c.394G>T (p.Gly132Cys) c.229G>T (p.Gly77Cys) c.630G>T c.1528G>T (p.Gly510Cys) c.1519G>T (p.Gly507Cys) c.1546G>T (p.Gly516Cys) c.1543G>T (p.Gly515Cys) c.1525G>T (p.Gly509Cys) c.1468G>T (p.Gly490Cys) c.-33G>T (n.-33G>T) c.1516G>T (p.Gly506Cys) c.1522G>T (p.Gly508Cys) c.1438G>T (p.Gly480Cys) c.1366G>T (p.Gly456Cys) c.661G>T (p.Gly221Cys) | |
| 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.137762711G>A | CA375768755 | EHMT1 | c.1538G>A (p.Gly513Asp) c.1424G>A (p.Gly475Asp) c.1445G>A (p.Gly482Asp) c.1578G>A (n.1578G>A) c.1483G>A c.1165G>A c.707G>A (p.Gly236Asp) c.*1273G>A (n.*1273G>A) c.395G>A (p.Gly132Asp) c.230G>A (p.Gly77Asp) c.631G>A c.1529G>A (p.Gly510Asp) c.1520G>A (p.Gly507Asp) c.1547G>A (p.Gly516Asp) c.1544G>A (p.Gly515Asp) c.1526G>A (p.Gly509Asp) c.1469G>A (p.Gly490Asp) c.-32G>A (n.-32G>A) c.1517G>A (p.Gly506Asp) c.1523G>A (p.Gly508Asp) c.1439G>A (p.Gly480Asp) c.1367G>A (p.Gly456Asp) c.662G>A (p.Gly221Asp) | ClinVar dbSNP gnomAD v4 |
| 9 | g.137762711G>C | CA375768757 | EHMT1 | c.1538G>C (p.Gly513Ala) c.1424G>C (p.Gly475Ala) c.1445G>C (p.Gly482Ala) c.1578G>C (n.1578G>C) c.1483G>C c.1165G>C c.707G>C (p.Gly236Ala) c.*1273G>C (n.*1273G>C) c.395G>C (p.Gly132Ala) c.230G>C (p.Gly77Ala) c.631G>C c.1529G>C (p.Gly510Ala) c.1520G>C (p.Gly507Ala) c.1547G>C (p.Gly516Ala) c.1544G>C (p.Gly515Ala) c.1526G>C (p.Gly509Ala) c.1469G>C (p.Gly490Ala) c.-32G>C (n.-32G>C) c.1517G>C (p.Gly506Ala) c.1523G>C (p.Gly508Ala) c.1439G>C (p.Gly480Ala) c.1367G>C (p.Gly456Ala) c.662G>C (p.Gly221Ala) | |
| 9 | g.137762711G>T | CA375768762 | EHMT1 | c.1538G>T (p.Gly513Val) c.1424G>T (p.Gly475Val) c.1445G>T (p.Gly482Val) c.1578G>T (n.1578G>T) c.1483G>T c.1165G>T c.707G>T (p.Gly236Val) c.*1273G>T (n.*1273G>T) c.395G>T (p.Gly132Val) c.230G>T (p.Gly77Val) c.631G>T c.1529G>T (p.Gly510Val) c.1520G>T (p.Gly507Val) c.1547G>T (p.Gly516Val) c.1544G>T (p.Gly515Val) c.1526G>T (p.Gly509Val) c.1469G>T (p.Gly490Val) c.-32G>T (n.-32G>T) c.1517G>T (p.Gly506Val) c.1523G>T (p.Gly508Val) c.1439G>T (p.Gly480Val) c.1367G>T (p.Gly456Val) c.662G>T (p.Gly221Val) | |
| 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.137762712C>A | CA467873868 | EHMT1 | c.1539C>A (p.Gly513=) c.1425C>A (p.Gly475=) c.1446C>A (p.Gly482=) c.1579C>A (n.1579C>A) c.1484C>A c.1166C>A c.708C>A (p.Gly236=) c.*1274C>A (n.*1274C>A) c.396C>A (p.Gly132=) c.231C>A (p.Gly77=) c.632C>A c.1530C>A (p.Gly510=) c.1521C>A (p.Gly507=) c.1548C>A (p.Gly516=) c.1545C>A (p.Gly515=) c.1527C>A (p.Gly509=) c.1470C>A (p.Gly490=) c.-31C>A (n.-31C>A) c.1518C>A (p.Gly506=) c.1524C>A (p.Gly508=) c.1440C>A (p.Gly480=) c.1368C>A (p.Gly456=) c.663C>A (p.Gly221=) | |
| 9 | g.137762712C>G | CA467873869 | EHMT1 | c.1539C>G (p.Gly513=) c.1425C>G (p.Gly475=) c.1446C>G (p.Gly482=) c.1579C>G (n.1579C>G) c.1484C>G c.1166C>G c.708C>G (p.Gly236=) c.*1274C>G (n.*1274C>G) c.396C>G (p.Gly132=) c.231C>G (p.Gly77=) c.632C>G c.1530C>G (p.Gly510=) c.1521C>G (p.Gly507=) c.1548C>G (p.Gly516=) c.1545C>G (p.Gly515=) c.1527C>G (p.Gly509=) c.1470C>G (p.Gly490=) c.-31C>G (n.-31C>G) c.1518C>G (p.Gly506=) c.1524C>G (p.Gly508=) c.1440C>G (p.Gly480=) c.1368C>G (p.Gly456=) c.663C>G (p.Gly221=) | |
| 9 | g.137762712C>T | CA467873870 | EHMT1 | c.1539C>T (p.Gly513=) c.1425C>T (p.Gly475=) c.1446C>T (p.Gly482=) c.1579C>T (n.1579C>T) c.1484C>T c.1166C>T c.708C>T (p.Gly236=) c.*1274C>T (n.*1274C>T) c.396C>T (p.Gly132=) c.231C>T (p.Gly77=) c.632C>T c.1530C>T (p.Gly510=) c.1521C>T (p.Gly507=) c.1548C>T (p.Gly516=) c.1545C>T (p.Gly515=) c.1527C>T (p.Gly509=) c.1470C>T (p.Gly490=) c.-31C>T (n.-31C>T) c.1518C>T (p.Gly506=) c.1524C>T (p.Gly508=) c.1440C>T (p.Gly480=) c.1368C>T (p.Gly456=) c.663C>T (p.Gly221=) | |
| 9 | g.137762713C>A | CA375768788 | EHMT1 | c.1540C>A (p.Leu514Ile) c.1426C>A (p.Leu476Ile) c.1447C>A (p.Leu483Ile) c.1580C>A (n.1580C>A) c.1485C>A c.1167C>A c.709C>A (p.Leu237Ile) c.*1275C>A (n.*1275C>A) c.397C>A (p.Leu133Ile) c.232C>A (p.Leu78Ile) c.633C>A c.1531C>A (p.Leu511Ile) c.1522C>A (p.Leu508Ile) c.1549C>A (p.Leu517Ile) c.1546C>A (p.Leu516Ile) c.1528C>A (p.Leu510Ile) c.1471C>A (p.Leu491Ile) c.-30C>A (n.-30C>A) c.1519C>A (p.Leu507Ile) c.1525C>A (p.Leu509Ile) c.1441C>A (p.Leu481Ile) c.1369C>A (p.Leu457Ile) c.664C>A (p.Leu222Ile) | gnomAD v4 |
| 9 | g.137762713C= | CA1884659565 | EHMT1 | c.1540C= (p.Leu514=) c.1426C= (p.Leu476=) c.1447C= (p.Leu483=) c.1580C= (n.1580C=) c.1485C= c.1167C= c.709C= (p.Leu237=) c.*1275C= (n.*1275C=) c.397C= (p.Leu133=) c.232C= (p.Leu78=) c.633C= c.1531C= (p.Leu511=) c.1522C= (p.Leu508=) c.1549C= (p.Leu517=) c.1546C= (p.Leu516=) c.1528C= (p.Leu510=) c.1471C= (p.Leu491=) c.-30C= (n.-30C=) c.1519C= (p.Leu507=) c.1525C= (p.Leu509=) c.1441C= (p.Leu481=) c.1369C= (p.Leu457=) c.664C= (p.Leu222=) | |
| 9 | g.137762713C>G | CA5374661 | EHMT1 | c.1540C>G (p.Leu514Val) c.1426C>G (p.Leu476Val) c.1447C>G (p.Leu483Val) c.1580C>G (n.1580C>G) c.1485C>G c.1167C>G c.709C>G (p.Leu237Val) c.*1275C>G (n.*1275C>G) c.397C>G (p.Leu133Val) c.232C>G (p.Leu78Val) c.633C>G c.1531C>G (p.Leu511Val) c.1522C>G (p.Leu508Val) c.1549C>G (p.Leu517Val) c.1546C>G (p.Leu516Val) c.1528C>G (p.Leu510Val) c.1471C>G (p.Leu491Val) c.-30C>G (n.-30C>G) c.1519C>G (p.Leu507Val) c.1525C>G (p.Leu509Val) c.1441C>G (p.Leu481Val) c.1369C>G (p.Leu457Val) c.664C>G (p.Leu222Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137762713C>T | CA201792860 | EHMT1 | c.1540C>T (p.Leu514Phe) c.1426C>T (p.Leu476Phe) c.1447C>T (p.Leu483Phe) c.1580C>T (n.1580C>T) c.1485C>T c.1167C>T c.709C>T (p.Leu237Phe) c.*1275C>T (n.*1275C>T) c.397C>T (p.Leu133Phe) c.232C>T (p.Leu78Phe) c.633C>T c.1531C>T (p.Leu511Phe) c.1522C>T (p.Leu508Phe) c.1549C>T (p.Leu517Phe) c.1546C>T (p.Leu516Phe) c.1528C>T (p.Leu510Phe) c.1471C>T (p.Leu491Phe) c.-30C>T (n.-30C>T) c.1519C>T (p.Leu507Phe) c.1525C>T (p.Leu509Phe) c.1441C>T (p.Leu481Phe) c.1369C>T (p.Leu457Phe) c.664C>T (p.Leu222Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137762714T>A | CA375768796 | EHMT1 | c.1541T>A (p.Leu514His) c.1427T>A (p.Leu476His) c.1448T>A (p.Leu483His) c.1581T>A (n.1581T>A) c.1486T>A c.1168T>A c.710T>A (p.Leu237His) c.*1276T>A (n.*1276T>A) c.398T>A (p.Leu133His) c.233T>A (p.Leu78His) c.634T>A c.1532T>A (p.Leu511His) c.1523T>A (p.Leu508His) c.1550T>A (p.Leu517His) c.1547T>A (p.Leu516His) c.1529T>A (p.Leu510His) c.1472T>A (p.Leu491His) c.-29T>A (n.-29T>A) c.1520T>A (p.Leu507His) c.1526T>A (p.Leu509His) c.1442T>A (p.Leu481His) c.1370T>A (p.Leu457His) c.665T>A (p.Leu222His) | |
| 9 | g.137762714T>C | CA375768810 | EHMT1 | c.1541T>C (p.Leu514Pro) c.1427T>C (p.Leu476Pro) c.1448T>C (p.Leu483Pro) c.1581T>C (n.1581T>C) c.1486T>C c.1168T>C c.710T>C (p.Leu237Pro) c.*1276T>C (n.*1276T>C) c.398T>C (p.Leu133Pro) c.233T>C (p.Leu78Pro) c.634T>C c.1532T>C (p.Leu511Pro) c.1523T>C (p.Leu508Pro) c.1550T>C (p.Leu517Pro) c.1547T>C (p.Leu516Pro) c.1529T>C (p.Leu510Pro) c.1472T>C (p.Leu491Pro) c.-29T>C (n.-29T>C) c.1520T>C (p.Leu507Pro) c.1526T>C (p.Leu509Pro) c.1442T>C (p.Leu481Pro) c.1370T>C (p.Leu457Pro) c.665T>C (p.Leu222Pro) | |
| 9 | g.137762714T>G | CA375768820 | EHMT1 | c.1541T>G (p.Leu514Arg) c.1427T>G (p.Leu476Arg) c.1448T>G (p.Leu483Arg) c.1581T>G (n.1581T>G) c.1486T>G c.1168T>G c.710T>G (p.Leu237Arg) c.*1276T>G (n.*1276T>G) c.398T>G (p.Leu133Arg) c.233T>G (p.Leu78Arg) c.634T>G c.1532T>G (p.Leu511Arg) c.1523T>G (p.Leu508Arg) c.1550T>G (p.Leu517Arg) c.1547T>G (p.Leu516Arg) c.1529T>G (p.Leu510Arg) c.1472T>G (p.Leu491Arg) c.-29T>G (n.-29T>G) c.1520T>G (p.Leu507Arg) c.1526T>G (p.Leu509Arg) c.1442T>G (p.Leu481Arg) c.1370T>G (p.Leu457Arg) c.665T>G (p.Leu222Arg) | |
| 9 | g.137762715C>A | CA467873871 | EHMT1 | c.1542C>A (p.Leu514=) c.1428C>A (p.Leu476=) c.1449C>A (p.Leu483=) c.1582C>A (n.1582C>A) c.1487C>A c.1169C>A c.711C>A (p.Leu237=) c.*1277C>A (n.*1277C>A) c.399C>A (p.Leu133=) c.234C>A (p.Leu78=) c.635C>A c.1533C>A (p.Leu511=) c.1524C>A (p.Leu508=) c.1551C>A (p.Leu517=) c.1548C>A (p.Leu516=) c.1530C>A (p.Leu510=) c.1473C>A (p.Leu491=) c.-28C>A (n.-28C>A) c.1521C>A (p.Leu507=) c.1527C>A (p.Leu509=) c.1443C>A (p.Leu481=) c.1371C>A (p.Leu457=) c.666C>A (p.Leu222=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137762715C= | CA1884659566 | EHMT1 | c.1542C= (p.Leu514=) c.1428C= (p.Leu476=) c.1449C= (p.Leu483=) c.1582C= (n.1582C=) c.1487C= c.1169C= c.711C= (p.Leu237=) c.*1277C= (n.*1277C=) c.399C= (p.Leu133=) c.234C= (p.Leu78=) c.635C= c.1533C= (p.Leu511=) c.1524C= (p.Leu508=) c.1551C= (p.Leu517=) c.1548C= (p.Leu516=) c.1530C= (p.Leu510=) c.1473C= (p.Leu491=) c.-28C= (n.-28C=) c.1521C= (p.Leu507=) c.1527C= (p.Leu509=) c.1443C= (p.Leu481=) c.1371C= (p.Leu457=) c.666C= (p.Leu222=) | |
| 9 | g.137762715C>G | CA467873872 | EHMT1 | c.1542C>G (p.Leu514=) c.1428C>G (p.Leu476=) c.1449C>G (p.Leu483=) c.1582C>G (n.1582C>G) c.1487C>G c.1169C>G c.711C>G (p.Leu237=) c.*1277C>G (n.*1277C>G) c.399C>G (p.Leu133=) c.234C>G (p.Leu78=) c.635C>G c.1533C>G (p.Leu511=) c.1524C>G (p.Leu508=) c.1551C>G (p.Leu517=) c.1548C>G (p.Leu516=) c.1530C>G (p.Leu510=) c.1473C>G (p.Leu491=) c.-28C>G (n.-28C>G) c.1521C>G (p.Leu507=) c.1527C>G (p.Leu509=) c.1443C>G (p.Leu481=) c.1371C>G (p.Leu457=) c.666C>G (p.Leu222=) | |
| 9 | g.137762715C>T | CA467873873 | EHMT1 | c.1542C>T (p.Leu514=) c.1428C>T (p.Leu476=) c.1449C>T (p.Leu483=) c.1582C>T (n.1582C>T) c.1487C>T c.1169C>T c.711C>T (p.Leu237=) c.*1277C>T (n.*1277C>T) c.399C>T (p.Leu133=) c.234C>T (p.Leu78=) c.635C>T c.1533C>T (p.Leu511=) c.1524C>T (p.Leu508=) c.1551C>T (p.Leu517=) c.1548C>T (p.Leu516=) c.1530C>T (p.Leu510=) c.1473C>T (p.Leu491=) c.-28C>T (n.-28C>T) c.1521C>T (p.Leu507=) c.1527C>T (p.Leu509=) c.1443C>T (p.Leu481=) c.1371C>T (p.Leu457=) c.666C>T (p.Leu222=) | gnomAD v4 |
| 9 | g.137762716C>A | CA375768826 | EHMT1 | c.1543C>A (p.Gln515Lys) c.1429C>A (p.Gln477Lys) c.1450C>A (p.Gln484Lys) c.1583C>A (n.1583C>A) c.1488C>A c.1170C>A c.712C>A (p.Gln238Lys) c.*1278C>A (n.*1278C>A) c.400C>A (p.Gln134Lys) c.235C>A (p.Gln79Lys) c.636C>A c.1534C>A (p.Gln512Lys) c.1525C>A (p.Gln509Lys) c.1552C>A (p.Gln518Lys) c.1549C>A (p.Gln517Lys) c.1531C>A (p.Gln511Lys) c.1474C>A (p.Gln492Lys) c.-27C>A (n.-27C>A) c.1522C>A (p.Gln508Lys) c.1528C>A (p.Gln510Lys) c.1444C>A (p.Gln482Lys) c.1372C>A (p.Gln458Lys) c.667C>A (p.Gln223Lys) | |
| 9 | g.137762716C= | CA1884659567 | EHMT1 | c.1543C= (p.Gln515=) c.1429C= (p.Gln477=) c.1450C= (p.Gln484=) c.1583C= (n.1583C=) c.1488C= c.1170C= c.712C= (p.Gln238=) c.*1278C= (n.*1278C=) c.400C= (p.Gln134=) c.235C= (p.Gln79=) c.636C= c.1534C= (p.Gln512=) c.1525C= (p.Gln509=) c.1552C= (p.Gln518=) c.1549C= (p.Gln517=) c.1531C= (p.Gln511=) c.1474C= (p.Gln492=) c.-27C= (n.-27C=) c.1522C= (p.Gln508=) c.1528C= (p.Gln510=) c.1444C= (p.Gln482=) c.1372C= (p.Gln458=) c.667C= (p.Gln223=) | |
| 9 | g.137762716C>G | CA375768831 | EHMT1 | c.1543C>G (p.Gln515Glu) c.1429C>G (p.Gln477Glu) c.1450C>G (p.Gln484Glu) c.1583C>G (n.1583C>G) c.1488C>G c.1170C>G c.712C>G (p.Gln238Glu) c.*1278C>G (n.*1278C>G) c.400C>G (p.Gln134Glu) c.235C>G (p.Gln79Glu) c.636C>G c.1534C>G (p.Gln512Glu) c.1525C>G (p.Gln509Glu) c.1552C>G (p.Gln518Glu) c.1549C>G (p.Gln517Glu) c.1531C>G (p.Gln511Glu) c.1474C>G (p.Gln492Glu) c.-27C>G (n.-27C>G) c.1522C>G (p.Gln508Glu) c.1528C>G (p.Gln510Glu) c.1444C>G (p.Gln482Glu) c.1372C>G (p.Gln458Glu) c.667C>G (p.Gln223Glu) | |
| 9 | g.137762716C>T | CA375768832 | EHMT1 | c.1543C>T (p.Gln515Ter) c.1429C>T (p.Gln477Ter) c.1450C>T (p.Gln484Ter) c.1583C>T (n.1583C>T) c.1488C>T c.1170C>T c.712C>T (p.Gln238Ter) c.*1278C>T (n.*1278C>T) c.400C>T (p.Gln134Ter) c.235C>T (p.Gln79Ter) c.636C>T c.1534C>T (p.Gln512Ter) c.1525C>T (p.Gln509Ter) c.1552C>T (p.Gln518Ter) c.1549C>T (p.Gln517Ter) c.1531C>T (p.Gln511Ter) c.1474C>T (p.Gln492Ter) c.-27C>T (n.-27C>T) c.1522C>T (p.Gln508Ter) c.1528C>T (p.Gln510Ter) c.1444C>T (p.Gln482Ter) c.1372C>T (p.Gln458Ter) c.667C>T (p.Gln223Ter) | ClinVar dbSNP |
| 9 | g.137762717A>C | CA375768845 | EHMT1 | c.1544A>C (p.Gln515Pro) c.1430A>C (p.Gln477Pro) c.1451A>C (p.Gln484Pro) c.1584A>C (n.1584A>C) c.1489A>C c.1171A>C c.713A>C (p.Gln238Pro) c.*1279A>C (n.*1279A>C) c.401A>C (p.Gln134Pro) c.236A>C (p.Gln79Pro) c.637A>C c.1535A>C (p.Gln512Pro) c.1526A>C (p.Gln509Pro) c.1553A>C (p.Gln518Pro) c.1550A>C (p.Gln517Pro) c.1532A>C (p.Gln511Pro) c.1475A>C (p.Gln492Pro) c.-26A>C (n.-26A>C) c.1523A>C (p.Gln508Pro) c.1529A>C (p.Gln510Pro) c.1445A>C (p.Gln482Pro) c.1373A>C (p.Gln458Pro) c.668A>C (p.Gln223Pro) | |
| 9 | g.137762717A>G | CA375768836 | EHMT1 | c.1544A>G (p.Gln515Arg) c.1430A>G (p.Gln477Arg) c.1451A>G (p.Gln484Arg) c.1584A>G (n.1584A>G) c.1489A>G c.1171A>G c.713A>G (p.Gln238Arg) c.*1279A>G (n.*1279A>G) c.401A>G (p.Gln134Arg) c.236A>G (p.Gln79Arg) c.637A>G c.1535A>G (p.Gln512Arg) c.1526A>G (p.Gln509Arg) c.1553A>G (p.Gln518Arg) c.1550A>G (p.Gln517Arg) c.1532A>G (p.Gln511Arg) c.1475A>G (p.Gln492Arg) c.-26A>G (n.-26A>G) c.1523A>G (p.Gln508Arg) c.1529A>G (p.Gln510Arg) c.1445A>G (p.Gln482Arg) c.1373A>G (p.Gln458Arg) c.668A>G (p.Gln223Arg) | ClinVar dbSNP gnomAD v4 |
| 9 | g.137762717A>T | CA375768840 | EHMT1 | c.1544A>T (p.Gln515Leu) c.1430A>T (p.Gln477Leu) c.1451A>T (p.Gln484Leu) c.1584A>T (n.1584A>T) c.1489A>T c.1171A>T c.713A>T (p.Gln238Leu) c.*1279A>T (n.*1279A>T) c.401A>T (p.Gln134Leu) c.236A>T (p.Gln79Leu) c.637A>T c.1535A>T (p.Gln512Leu) c.1526A>T (p.Gln509Leu) c.1553A>T (p.Gln518Leu) c.1550A>T (p.Gln517Leu) c.1532A>T (p.Gln511Leu) c.1475A>T (p.Gln492Leu) c.-26A>T (n.-26A>T) c.1523A>T (p.Gln508Leu) c.1529A>T (p.Gln510Leu) c.1445A>T (p.Gln482Leu) c.1373A>T (p.Gln458Leu) c.668A>T (p.Gln223Leu) | |
| 9 | g.137762718G>A | CA467873874 | EHMT1 | c.1545G>A (p.Gln515=) c.1431G>A (p.Gln477=) c.1452G>A (p.Gln484=) c.1585G>A (n.1585G>A) c.1490G>A c.1172G>A c.714G>A (p.Gln238=) c.*1280G>A (n.*1280G>A) c.402G>A (p.Gln134=) c.237G>A (p.Gln79=) c.638G>A c.1536G>A (p.Gln512=) c.1527G>A (p.Gln509=) c.1554G>A (p.Gln518=) c.1551G>A (p.Gln517=) c.1533G>A (p.Gln511=) c.1476G>A (p.Gln492=) c.-25G>A (n.-25G>A) c.1524G>A (p.Gln508=) c.1530G>A (p.Gln510=) c.1446G>A (p.Gln482=) c.1374G>A (p.Gln458=) c.669G>A (p.Gln223=) | |
| 9 | g.137762718G>C | CA375768850 | EHMT1 | c.1545G>C (p.Gln515His) c.1431G>C (p.Gln477His) c.1452G>C (p.Gln484His) c.1585G>C (n.1585G>C) c.1490G>C c.1172G>C c.714G>C (p.Gln238His) c.*1280G>C (n.*1280G>C) c.402G>C (p.Gln134His) c.237G>C (p.Gln79His) c.638G>C c.1536G>C (p.Gln512His) c.1527G>C (p.Gln509His) c.1554G>C (p.Gln518His) c.1551G>C (p.Gln517His) c.1533G>C (p.Gln511His) c.1476G>C (p.Gln492His) c.-25G>C (n.-25G>C) c.1524G>C (p.Gln508His) c.1530G>C (p.Gln510His) c.1446G>C (p.Gln482His) c.1374G>C (p.Gln458His) c.669G>C (p.Gln223His) | |
| 9 | g.137762718G>T | CA375768853 | EHMT1 | c.1545G>T (p.Gln515His) c.1431G>T (p.Gln477His) c.1452G>T (p.Gln484His) c.1585G>T (n.1585G>T) c.1490G>T c.1172G>T c.714G>T (p.Gln238His) c.*1280G>T (n.*1280G>T) c.402G>T (p.Gln134His) c.237G>T (p.Gln79His) c.638G>T c.1536G>T (p.Gln512His) c.1527G>T (p.Gln509His) c.1554G>T (p.Gln518His) c.1551G>T (p.Gln517His) c.1533G>T (p.Gln511His) c.1476G>T (p.Gln492His) c.-25G>T (n.-25G>T) c.1524G>T (p.Gln508His) c.1530G>T (p.Gln510His) c.1446G>T (p.Gln482His) c.1374G>T (p.Gln458His) c.669G>T (p.Gln223His) | |
| 9 | g.137762719G>A | CA5374662 | EHMT1 | c.1546G>A (p.Glu516Lys) c.1432G>A (p.Glu478Lys) c.1453G>A (p.Glu485Lys) c.1586G>A (n.1586G>A) c.1491G>A c.1173G>A c.715G>A (p.Glu239Lys) c.*1281G>A (n.*1281G>A) c.403G>A (p.Glu135Lys) c.238G>A (p.Glu80Lys) c.639G>A c.1537G>A (p.Glu513Lys) c.1528G>A (p.Glu510Lys) c.1555G>A (p.Glu519Lys) c.1552G>A (p.Glu518Lys) c.1534G>A (p.Glu512Lys) c.1477G>A (p.Glu493Lys) c.-24G>A (n.-24G>A) c.1525G>A (p.Glu509Lys) c.1531G>A (p.Glu511Lys) c.1447G>A (p.Glu483Lys) c.1375G>A (p.Glu459Lys) c.670G>A (p.Glu224Lys) | ClinVar dbSNP ExAC |
| 9 | g.137762719G>C | CA375768865 | EHMT1 | c.1546G>C (p.Glu516Gln) c.1432G>C (p.Glu478Gln) c.1453G>C (p.Glu485Gln) c.1586G>C (n.1586G>C) c.1491G>C c.1173G>C c.715G>C (p.Glu239Gln) c.*1281G>C (n.*1281G>C) c.403G>C (p.Glu135Gln) c.238G>C (p.Glu80Gln) c.639G>C c.1537G>C (p.Glu513Gln) c.1528G>C (p.Glu510Gln) c.1555G>C (p.Glu519Gln) c.1552G>C (p.Glu518Gln) c.1534G>C (p.Glu512Gln) c.1477G>C (p.Glu493Gln) c.-24G>C (n.-24G>C) c.1525G>C (p.Glu509Gln) c.1531G>C (p.Glu511Gln) c.1447G>C (p.Glu483Gln) c.1375G>C (p.Glu459Gln) c.670G>C (p.Glu224Gln) | |
| 9 | g.137762719G= | CA1884659568 | EHMT1 | c.1546G= (p.Glu516=) c.1432G= (p.Glu478=) c.1453G= (p.Glu485=) c.1586G= (n.1586G=) c.1491G= c.1173G= c.715G= (p.Glu239=) c.*1281G= (n.*1281G=) c.403G= (p.Glu135=) c.238G= (p.Glu80=) c.639G= c.1537G= (p.Glu513=) c.1528G= (p.Glu510=) c.1555G= (p.Glu519=) c.1552G= (p.Glu518=) c.1534G= (p.Glu512=) c.1477G= (p.Glu493=) c.-24G= (n.-24G=) c.1525G= (p.Glu509=) c.1531G= (p.Glu511=) c.1447G= (p.Glu483=) c.1375G= (p.Glu459=) c.670G= (p.Glu224=) | |
| 9 | g.137762719G>T | CA375768868 | EHMT1 | c.1546G>T (p.Glu516Ter) c.1432G>T (p.Glu478Ter) c.1453G>T (p.Glu485Ter) c.1586G>T (n.1586G>T) c.1491G>T c.1173G>T c.715G>T (p.Glu239Ter) c.*1281G>T (n.*1281G>T) c.403G>T (p.Glu135Ter) c.238G>T (p.Glu80Ter) c.639G>T c.1537G>T (p.Glu513Ter) c.1528G>T (p.Glu510Ter) c.1555G>T (p.Glu519Ter) c.1552G>T (p.Glu518Ter) c.1534G>T (p.Glu512Ter) c.1477G>T (p.Glu493Ter) c.-24G>T (n.-24G>T) c.1525G>T (p.Glu509Ter) c.1531G>T (p.Glu511Ter) c.1447G>T (p.Glu483Ter) c.1375G>T (p.Glu459Ter) c.670G>T (p.Glu224Ter) | |
| 9 | g.137762720A>C | CA375768872 | EHMT1 | c.1547A>C (p.Glu516Ala) c.1433A>C (p.Glu478Ala) c.1454A>C (p.Glu485Ala) c.1587A>C (n.1587A>C) c.1492A>C c.1174A>C c.716A>C (p.Glu239Ala) c.*1282A>C (n.*1282A>C) c.404A>C (p.Glu135Ala) c.239A>C (p.Glu80Ala) c.640A>C c.1538A>C (p.Glu513Ala) c.1529A>C (p.Glu510Ala) c.1556A>C (p.Glu519Ala) c.1553A>C (p.Glu518Ala) c.1535A>C (p.Glu512Ala) c.1478A>C (p.Glu493Ala) c.-23A>C (n.-23A>C) c.1526A>C (p.Glu509Ala) c.1532A>C (p.Glu511Ala) c.1448A>C (p.Glu483Ala) c.1376A>C (p.Glu459Ala) c.671A>C (p.Glu224Ala) | |
| 9 | g.137762720A>G | CA375768883 | EHMT1 | c.1547A>G (p.Glu516Gly) c.1433A>G (p.Glu478Gly) c.1454A>G (p.Glu485Gly) c.1587A>G (n.1587A>G) c.1492A>G c.1174A>G c.716A>G (p.Glu239Gly) c.*1282A>G (n.*1282A>G) c.404A>G (p.Glu135Gly) c.239A>G (p.Glu80Gly) c.640A>G c.1538A>G (p.Glu513Gly) c.1529A>G (p.Glu510Gly) c.1556A>G (p.Glu519Gly) c.1553A>G (p.Glu518Gly) c.1535A>G (p.Glu512Gly) c.1478A>G (p.Glu493Gly) c.-23A>G (n.-23A>G) c.1526A>G (p.Glu509Gly) c.1532A>G (p.Glu511Gly) c.1448A>G (p.Glu483Gly) c.1376A>G (p.Glu459Gly) c.671A>G (p.Glu224Gly) | |
| 9 | g.137762720A>T | CA375768880 | EHMT1 | c.1547A>T (p.Glu516Val) c.1433A>T (p.Glu478Val) c.1454A>T (p.Glu485Val) c.1587A>T (n.1587A>T) c.1492A>T c.1174A>T c.716A>T (p.Glu239Val) c.*1282A>T (n.*1282A>T) c.404A>T (p.Glu135Val) c.239A>T (p.Glu80Val) c.640A>T c.1538A>T (p.Glu513Val) c.1529A>T (p.Glu510Val) c.1556A>T (p.Glu519Val) c.1553A>T (p.Glu518Val) c.1535A>T (p.Glu512Val) c.1478A>T (p.Glu493Val) c.-23A>T (n.-23A>T) c.1526A>T (p.Glu509Val) c.1532A>T (p.Glu511Val) c.1448A>T (p.Glu483Val) c.1376A>T (p.Glu459Val) c.671A>T (p.Glu224Val) | |
| 9 | g.137762721A>C | CA375768893 | EHMT1 | c.1548A>C (p.Glu516Asp) c.1434A>C (p.Glu478Asp) c.1455A>C (p.Glu485Asp) c.1588A>C (n.1588A>C) c.1493A>C c.1175A>C c.717A>C (p.Glu239Asp) c.*1283A>C (n.*1283A>C) c.405A>C (p.Glu135Asp) c.240A>C (p.Glu80Asp) c.641A>C c.1539A>C (p.Glu513Asp) c.1530A>C (p.Glu510Asp) c.1557A>C (p.Glu519Asp) c.1554A>C (p.Glu518Asp) c.1536A>C (p.Glu512Asp) c.1479A>C (p.Glu493Asp) c.-22A>C (n.-22A>C) c.1527A>C (p.Glu509Asp) c.1533A>C (p.Glu511Asp) c.1449A>C (p.Glu483Asp) c.1377A>C (p.Glu459Asp) c.672A>C (p.Glu224Asp) | |
| 9 | g.137762721A>G | CA467873875 | EHMT1 | c.1548A>G (p.Glu516=) c.1434A>G (p.Glu478=) c.1455A>G (p.Glu485=) c.1588A>G (n.1588A>G) c.1493A>G c.1175A>G c.717A>G (p.Glu239=) c.*1283A>G (n.*1283A>G) c.405A>G (p.Glu135=) c.240A>G (p.Glu80=) c.641A>G c.1539A>G (p.Glu513=) c.1530A>G (p.Glu510=) c.1557A>G (p.Glu519=) c.1554A>G (p.Glu518=) c.1536A>G (p.Glu512=) c.1479A>G (p.Glu493=) c.-22A>G (n.-22A>G) c.1527A>G (p.Glu509=) c.1533A>G (p.Glu511=) c.1449A>G (p.Glu483=) c.1377A>G (p.Glu459=) c.672A>G (p.Glu224=) | gnomAD v4 |
| 9 | g.137762721A>T | CA375768898 | EHMT1 | c.1548A>T (p.Glu516Asp) c.1434A>T (p.Glu478Asp) c.1455A>T (p.Glu485Asp) c.1588A>T (n.1588A>T) c.1493A>T c.1175A>T c.717A>T (p.Glu239Asp) c.*1283A>T (n.*1283A>T) c.405A>T (p.Glu135Asp) c.240A>T (p.Glu80Asp) c.641A>T c.1539A>T (p.Glu513Asp) c.1530A>T (p.Glu510Asp) c.1557A>T (p.Glu519Asp) c.1554A>T (p.Glu518Asp) c.1536A>T (p.Glu512Asp) c.1479A>T (p.Glu493Asp) c.-22A>T (n.-22A>T) c.1527A>T (p.Glu509Asp) c.1533A>T (p.Glu511Asp) c.1449A>T (p.Glu483Asp) c.1377A>T (p.Glu459Asp) c.672A>T (p.Glu224Asp) | |
| 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) | |
| 9 | g.137762736C>T | CA5374663 | EHMT1 | c.1563C>T (p.Ser521=) c.1449C>T (p.Ser483=) c.1470C>T (p.Ser490=) c.1603C>T (n.1603C>T) c.1508C>T c.1190C>T c.732C>T (p.Ser244=) c.*1298C>T (n.*1298C>T) c.420C>T (p.Ser140=) c.255C>T (p.Ser85=) c.656C>T c.1554C>T (p.Ser518=) c.1545C>T (p.Ser515=) c.1572C>T (p.Ser524=) c.1569C>T (p.Ser523=) c.1551C>T (p.Ser517=) c.1494C>T (p.Ser498=) c.-7C>T (n.-7C>T) c.1542C>T (p.Ser514=) c.1548C>T (p.Ser516=) c.1464C>T (p.Ser488=) c.1392C>T (p.Ser464=) c.687C>T (p.Ser229=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137762737T>A | CA375769070 | EHMT1 | c.1564T>A (p.Cys522Ser) c.1450T>A (p.Cys484Ser) c.1471T>A (p.Cys491Ser) c.1604T>A (n.1604T>A) c.1509T>A c.1191T>A c.733T>A (p.Cys245Ser) c.*1299T>A (n.*1299T>A) c.421T>A (p.Cys141Ser) c.256T>A (p.Cys86Ser) c.657T>A c.1555T>A (p.Cys519Ser) c.1546T>A (p.Cys516Ser) c.1573T>A (p.Cys525Ser) c.1570T>A (p.Cys524Ser) c.1552T>A (p.Cys518Ser) c.1495T>A (p.Cys499Ser) c.-6T>A (n.-6T>A) c.1543T>A (p.Cys515Ser) c.1549T>A (p.Cys517Ser) c.1465T>A (p.Cys489Ser) c.1393T>A (p.Cys465Ser) c.688T>A (p.Cys230Ser) | |
| 9 | g.137762737T>C | CA375769080 | EHMT1 | c.1564T>C (p.Cys522Arg) c.1450T>C (p.Cys484Arg) c.1471T>C (p.Cys491Arg) c.1604T>C (n.1604T>C) c.1509T>C c.1191T>C c.733T>C (p.Cys245Arg) c.*1299T>C (n.*1299T>C) c.421T>C (p.Cys141Arg) c.256T>C (p.Cys86Arg) c.657T>C c.1555T>C (p.Cys519Arg) c.1546T>C (p.Cys516Arg) c.1573T>C (p.Cys525Arg) c.1570T>C (p.Cys524Arg) c.1552T>C (p.Cys518Arg) c.1495T>C (p.Cys499Arg) c.-6T>C (n.-6T>C) c.1543T>C (p.Cys515Arg) c.1549T>C (p.Cys517Arg) c.1465T>C (p.Cys489Arg) c.1393T>C (p.Cys465Arg) c.688T>C (p.Cys230Arg) | |
| 9 | g.137762737T>G | CA375769071 | EHMT1 | c.1564T>G (p.Cys522Gly) c.1450T>G (p.Cys484Gly) c.1471T>G (p.Cys491Gly) c.1604T>G (n.1604T>G) c.1509T>G c.1191T>G c.733T>G (p.Cys245Gly) c.*1299T>G (n.*1299T>G) c.421T>G (p.Cys141Gly) c.256T>G (p.Cys86Gly) c.657T>G c.1555T>G (p.Cys519Gly) c.1546T>G (p.Cys516Gly) c.1573T>G (p.Cys525Gly) c.1570T>G (p.Cys524Gly) c.1552T>G (p.Cys518Gly) c.1495T>G (p.Cys499Gly) c.-6T>G (n.-6T>G) c.1543T>G (p.Cys515Gly) c.1549T>G (p.Cys517Gly) c.1465T>G (p.Cys489Gly) c.1393T>G (p.Cys465Gly) c.688T>G (p.Cys230Gly) | |
| 9 | g.137762738G>A | CA375769082 | EHMT1 | c.1565G>A (p.Cys522Tyr) c.1451G>A (p.Cys484Tyr) c.1472G>A (p.Cys491Tyr) c.1605G>A (n.1605G>A) c.1510G>A c.1192G>A c.734G>A (p.Cys245Tyr) c.*1300G>A (n.*1300G>A) c.422G>A (p.Cys141Tyr) c.257G>A (p.Cys86Tyr) c.658G>A c.1556G>A (p.Cys519Tyr) c.1547G>A (p.Cys516Tyr) c.1574G>A (p.Cys525Tyr) c.1571G>A (p.Cys524Tyr) c.1553G>A (p.Cys518Tyr) c.1496G>A (p.Cys499Tyr) c.-5G>A (n.-5G>A) c.1544G>A (p.Cys515Tyr) c.1550G>A (p.Cys517Tyr) c.1466G>A (p.Cys489Tyr) c.1394G>A (p.Cys465Tyr) c.689G>A (p.Cys230Tyr) | |
| 9 | g.137762738G>C | CA375769083 | EHMT1 | c.1565G>C (p.Cys522Ser) c.1451G>C (p.Cys484Ser) c.1472G>C (p.Cys491Ser) c.1605G>C (n.1605G>C) c.1510G>C c.1192G>C c.734G>C (p.Cys245Ser) c.*1300G>C (n.*1300G>C) c.422G>C (p.Cys141Ser) c.257G>C (p.Cys86Ser) c.658G>C c.1556G>C (p.Cys519Ser) c.1547G>C (p.Cys516Ser) c.1574G>C (p.Cys525Ser) c.1571G>C (p.Cys524Ser) c.1553G>C (p.Cys518Ser) c.1496G>C (p.Cys499Ser) c.-5G>C (n.-5G>C) c.1544G>C (p.Cys515Ser) c.1550G>C (p.Cys517Ser) c.1466G>C (p.Cys489Ser) c.1394G>C (p.Cys465Ser) c.689G>C (p.Cys230Ser) | |
| 9 | g.137762738G>T | CA375769087 | EHMT1 | c.1565G>T (p.Cys522Phe) c.1451G>T (p.Cys484Phe) c.1472G>T (p.Cys491Phe) c.1605G>T (n.1605G>T) c.1510G>T c.1192G>T c.734G>T (p.Cys245Phe) c.*1300G>T (n.*1300G>T) c.422G>T (p.Cys141Phe) c.257G>T (p.Cys86Phe) c.658G>T c.1556G>T (p.Cys519Phe) c.1547G>T (p.Cys516Phe) c.1574G>T (p.Cys525Phe) c.1571G>T (p.Cys524Phe) c.1553G>T (p.Cys518Phe) c.1496G>T (p.Cys499Phe) c.-5G>T (n.-5G>T) c.1544G>T (p.Cys515Phe) c.1550G>T (p.Cys517Phe) c.1466G>T (p.Cys489Phe) c.1394G>T (p.Cys465Phe) c.689G>T (p.Cys230Phe) | |
| 9 | g.137762739C>A | CA375769091 | EHMT1 | c.1566C>A (p.Cys522Ter) c.1452C>A (p.Cys484Ter) c.1473C>A (p.Cys491Ter) c.1606C>A (n.1606C>A) c.1511C>A c.1193C>A c.735C>A (p.Cys245Ter) c.*1301C>A (n.*1301C>A) c.423C>A (p.Cys141Ter) c.258C>A (p.Cys86Ter) c.659C>A c.1557C>A (p.Cys519Ter) c.1548C>A (p.Cys516Ter) c.1575C>A (p.Cys525Ter) c.1572C>A (p.Cys524Ter) c.1554C>A (p.Cys518Ter) c.1497C>A (p.Cys499Ter) c.-4C>A (n.-4C>A) c.1545C>A (p.Cys515Ter) c.1551C>A (p.Cys517Ter) c.1467C>A (p.Cys489Ter) c.1395C>A (p.Cys465Ter) c.690C>A (p.Cys230Ter) | |
| 9 | g.137762739C>G | CA375769093 | EHMT1 | c.1566C>G (p.Cys522Trp) c.1452C>G (p.Cys484Trp) c.1473C>G (p.Cys491Trp) c.1606C>G (n.1606C>G) c.1511C>G c.1193C>G c.735C>G (p.Cys245Trp) c.*1301C>G (n.*1301C>G) c.423C>G (p.Cys141Trp) c.258C>G (p.Cys86Trp) c.659C>G c.1557C>G (p.Cys519Trp) c.1548C>G (p.Cys516Trp) c.1575C>G (p.Cys525Trp) c.1572C>G (p.Cys524Trp) c.1554C>G (p.Cys518Trp) c.1497C>G (p.Cys499Trp) c.-4C>G (n.-4C>G) c.1545C>G (p.Cys515Trp) c.1551C>G (p.Cys517Trp) c.1467C>G (p.Cys489Trp) c.1395C>G (p.Cys465Trp) c.690C>G (p.Cys230Trp) | |
| 9 | g.137762739C>T | CA467873886 | EHMT1 | c.1566C>T (p.Cys522=) c.1452C>T (p.Cys484=) c.1473C>T (p.Cys491=) c.1606C>T (n.1606C>T) c.1511C>T c.1193C>T c.735C>T (p.Cys245=) c.*1301C>T (n.*1301C>T) c.423C>T (p.Cys141=) c.258C>T (p.Cys86=) c.659C>T c.1557C>T (p.Cys519=) c.1548C>T (p.Cys516=) c.1575C>T (p.Cys525=) c.1572C>T (p.Cys524=) c.1554C>T (p.Cys518=) c.1497C>T (p.Cys499=) c.-4C>T (n.-4C>T) c.1545C>T (p.Cys515=) c.1551C>T (p.Cys517=) c.1467C>T (p.Cys489=) c.1395C>T (p.Cys465=) c.690C>T (p.Cys230=) | |
| 9 | g.137762740C>A | CA467873887 | EHMT1 | c.1567C>A (p.Arg523=) c.1453C>A (p.Arg485=) c.1474C>A (p.Arg492=) c.1607C>A (n.1607C>A) c.1512C>A c.1194C>A c.736C>A (p.Arg246=) c.*1302C>A (n.*1302C>A) c.424C>A (p.Arg142=) c.259C>A (p.Arg87=) c.660C>A c.1558C>A (p.Arg520=) c.1549C>A (p.Arg517=) c.1576C>A (p.Arg526=) c.1573C>A (p.Arg525=) c.1555C>A (p.Arg519=) c.1498C>A (p.Arg500=) c.-3C>A (n.-3C>A) c.1546C>A (p.Arg516=) c.1552C>A (p.Arg518=) c.1468C>A (p.Arg490=) c.1396C>A (p.Arg466=) c.691C>A (p.Arg231=) | dbSNP |
| 9 | g.137762740C= | CA1884659573 | EHMT1 | c.1567C= (p.Arg523=) c.1453C= (p.Arg485=) c.1474C= (p.Arg492=) c.1607C= (n.1607C=) c.1512C= c.1194C= c.736C= (p.Arg246=) c.*1302C= (n.*1302C=) c.424C= (p.Arg142=) c.259C= (p.Arg87=) c.660C= c.1558C= (p.Arg520=) c.1549C= (p.Arg517=) c.1576C= (p.Arg526=) c.1573C= (p.Arg525=) c.1555C= (p.Arg519=) c.1498C= (p.Arg500=) c.-3C= (n.-3C=) c.1546C= (p.Arg516=) c.1552C= (p.Arg518=) c.1468C= (p.Arg490=) c.1396C= (p.Arg466=) c.691C= (p.Arg231=) | |
| 9 | g.137762740C>G | CA375769099 | EHMT1 | c.1567C>G (p.Arg523Gly) c.1453C>G (p.Arg485Gly) c.1474C>G (p.Arg492Gly) c.1607C>G (n.1607C>G) c.1512C>G c.1194C>G c.736C>G (p.Arg246Gly) c.*1302C>G (n.*1302C>G) c.424C>G (p.Arg142Gly) c.259C>G (p.Arg87Gly) c.660C>G c.1558C>G (p.Arg520Gly) c.1549C>G (p.Arg517Gly) c.1576C>G (p.Arg526Gly) c.1573C>G (p.Arg525Gly) c.1555C>G (p.Arg519Gly) c.1498C>G (p.Arg500Gly) c.-3C>G (n.-3C>G) c.1546C>G (p.Arg516Gly) c.1552C>G (p.Arg518Gly) c.1468C>G (p.Arg490Gly) c.1396C>G (p.Arg466Gly) c.691C>G (p.Arg231Gly) | |
| 9 | g.137762740C>T | CA5374664 | EHMT1 | c.1567C>T (p.Arg523Trp) c.1453C>T (p.Arg485Trp) c.1474C>T (p.Arg492Trp) c.1607C>T (n.1607C>T) c.1512C>T c.1194C>T c.736C>T (p.Arg246Trp) c.*1302C>T (n.*1302C>T) c.424C>T (p.Arg142Trp) c.259C>T (p.Arg87Trp) c.660C>T c.1558C>T (p.Arg520Trp) c.1549C>T (p.Arg517Trp) c.1576C>T (p.Arg526Trp) c.1573C>T (p.Arg525Trp) c.1555C>T (p.Arg519Trp) c.1498C>T (p.Arg500Trp) c.-3C>T (n.-3C>T) c.1546C>T (p.Arg516Trp) c.1552C>T (p.Arg518Trp) c.1468C>T (p.Arg490Trp) c.1396C>T (p.Arg466Trp) c.691C>T (p.Arg231Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137762741G>A | CA375769117 | EHMT1 | c.1568G>A (p.Arg523Gln) c.1454G>A (p.Arg485Gln) c.1475G>A (p.Arg492Gln) c.1608G>A (n.1608G>A) c.1513G>A c.1195G>A c.737G>A (p.Arg246Gln) c.*1303G>A (n.*1303G>A) c.425G>A (p.Arg142Gln) c.260G>A (p.Arg87Gln) c.661G>A c.1559G>A (p.Arg520Gln) c.1550G>A (p.Arg517Gln) c.1577G>A (p.Arg526Gln) c.1574G>A (p.Arg525Gln) c.1556G>A (p.Arg519Gln) c.1499G>A (p.Arg500Gln) c.-2G>A (n.-2G>A) c.1547G>A (p.Arg516Gln) c.1553G>A (p.Arg518Gln) c.1469G>A (p.Arg490Gln) c.1397G>A (p.Arg466Gln) c.692G>A (p.Arg231Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137762741G>C | CA375769120 | EHMT1 | c.1568G>C (p.Arg523Pro) c.1454G>C (p.Arg485Pro) c.1475G>C (p.Arg492Pro) c.1608G>C (n.1608G>C) c.1513G>C c.1195G>C c.737G>C (p.Arg246Pro) c.*1303G>C (n.*1303G>C) c.425G>C (p.Arg142Pro) c.260G>C (p.Arg87Pro) c.661G>C c.1559G>C (p.Arg520Pro) c.1550G>C (p.Arg517Pro) c.1577G>C (p.Arg526Pro) c.1574G>C (p.Arg525Pro) c.1556G>C (p.Arg519Pro) c.1499G>C (p.Arg500Pro) c.-2G>C (n.-2G>C) c.1547G>C (p.Arg516Pro) c.1553G>C (p.Arg518Pro) c.1469G>C (p.Arg490Pro) c.1397G>C (p.Arg466Pro) c.692G>C (p.Arg231Pro) | |
| 9 | g.137762741G= | CA1884659574 | EHMT1 | c.1568G= (p.Arg523=) c.1454G= (p.Arg485=) c.1475G= (p.Arg492=) c.1608G= (n.1608G=) c.1513G= c.1195G= c.737G= (p.Arg246=) c.*1303G= (n.*1303G=) c.425G= (p.Arg142=) c.260G= (p.Arg87=) c.661G= c.1559G= (p.Arg520=) c.1550G= (p.Arg517=) c.1577G= (p.Arg526=) c.1574G= (p.Arg525=) c.1556G= (p.Arg519=) c.1499G= (p.Arg500=) c.-2G= (n.-2G=) c.1547G= (p.Arg516=) c.1553G= (p.Arg518=) c.1469G= (p.Arg490=) c.1397G= (p.Arg466=) c.692G= (p.Arg231=) | |
| 9 | g.137762741G>T | CA375769122 | EHMT1 | c.1568G>T (p.Arg523Leu) c.1454G>T (p.Arg485Leu) c.1475G>T (p.Arg492Leu) c.1608G>T (n.1608G>T) c.1513G>T c.1195G>T c.737G>T (p.Arg246Leu) c.*1303G>T (n.*1303G>T) c.425G>T (p.Arg142Leu) c.260G>T (p.Arg87Leu) c.661G>T c.1559G>T (p.Arg520Leu) c.1550G>T (p.Arg517Leu) c.1577G>T (p.Arg526Leu) c.1574G>T (p.Arg525Leu) c.1556G>T (p.Arg519Leu) c.1499G>T (p.Arg500Leu) c.-2G>T (n.-2G>T) c.1547G>T (p.Arg516Leu) c.1553G>T (p.Arg518Leu) c.1469G>T (p.Arg490Leu) c.1397G>T (p.Arg466Leu) c.692G>T (p.Arg231Leu) | |
| 9 | g.137762742G>A | CA467873888 | EHMT1 | c.1569G>A (p.Arg523=) c.1455G>A (p.Arg485=) c.1476G>A (p.Arg492=) c.1609G>A (n.1609G>A) c.1514G>A c.1196G>A c.738G>A (p.Arg246=) c.*1304G>A (n.*1304G>A) c.426G>A (p.Arg142=) c.261G>A (p.Arg87=) c.662G>A c.1560G>A (p.Arg520=) c.1551G>A (p.Arg517=) c.1578G>A (p.Arg526=) c.1575G>A (p.Arg525=) c.1557G>A (p.Arg519=) c.1500G>A (p.Arg500=) c.-1G>A (n.-1G>A) c.1548G>A (p.Arg516=) c.1554G>A (p.Arg518=) c.1470G>A (p.Arg490=) c.1398G>A (p.Arg466=) c.693G>A (p.Arg231=) | dbSNP |
| 9 | g.137762742G>C | CA467873889 | EHMT1 | c.1569G>C (p.Arg523=) c.1455G>C (p.Arg485=) c.1476G>C (p.Arg492=) c.1609G>C (n.1609G>C) c.1514G>C c.1196G>C c.738G>C (p.Arg246=) c.*1304G>C (n.*1304G>C) c.426G>C (p.Arg142=) c.261G>C (p.Arg87=) c.662G>C c.1560G>C (p.Arg520=) c.1551G>C (p.Arg517=) c.1578G>C (p.Arg526=) c.1575G>C (p.Arg525=) c.1557G>C (p.Arg519=) c.1500G>C (p.Arg500=) c.-1G>C (n.-1G>C) c.1548G>C (p.Arg516=) c.1554G>C (p.Arg518=) c.1470G>C (p.Arg490=) c.1398G>C (p.Arg466=) c.693G>C (p.Arg231=) | |
| 9 | g.137762742G= | CA1884659575 | EHMT1 | c.1569G= (p.Arg523=) c.1455G= (p.Arg485=) c.1476G= (p.Arg492=) c.1609G= (n.1609G=) c.1514G= c.1196G= c.738G= (p.Arg246=) c.*1304G= (n.*1304G=) c.426G= (p.Arg142=) c.261G= (p.Arg87=) c.662G= c.1560G= (p.Arg520=) c.1551G= (p.Arg517=) c.1578G= (p.Arg526=) c.1575G= (p.Arg525=) c.1557G= (p.Arg519=) c.1500G= (p.Arg500=) c.-1G= (n.-1G=) c.1548G= (p.Arg516=) c.1554G= (p.Arg518=) c.1470G= (p.Arg490=) c.1398G= (p.Arg466=) c.693G= (p.Arg231=) | |
| 9 | g.137762742G>T | CA467873890 | EHMT1 | c.1569G>T (p.Arg523=) c.1455G>T (p.Arg485=) c.1476G>T (p.Arg492=) c.1609G>T (n.1609G>T) c.1514G>T c.1196G>T c.738G>T (p.Arg246=) c.*1304G>T (n.*1304G>T) c.426G>T (p.Arg142=) c.261G>T (p.Arg87=) c.662G>T c.1560G>T (p.Arg520=) c.1551G>T (p.Arg517=) c.1578G>T (p.Arg526=) c.1575G>T (p.Arg525=) c.1557G>T (p.Arg519=) c.1500G>T (p.Arg500=) c.-1G>T (n.-1G>T) c.1548G>T (p.Arg516=) c.1554G>T (p.Arg518=) c.1470G>T (p.Arg490=) c.1398G>T (p.Arg466=) c.693G>T (p.Arg231=) | dbSNP |
| 9 | g.137762743A>C | CA375769151 | EHMT1 | c.1570A>C (p.Met524Leu) c.1456A>C (p.Met486Leu) c.1477A>C (p.Met493Leu) c.1610A>C (n.1610A>C) c.1515A>C c.1197A>C c.739A>C (p.Met247Leu) c.*1305A>C (n.*1305A>C) c.427A>C (p.Met143Leu) c.262A>C (p.Met88Leu) c.663A>C c.1561A>C (p.Met521Leu) c.1552A>C (p.Met518Leu) c.1579A>C (p.Met527Leu) c.1576A>C (p.Met526Leu) c.1558A>C (p.Met520Leu) c.1501A>C (p.Met501Leu) c.1A>C (p.Met1Leu) c.1549A>C (p.Met517Leu) c.1555A>C (p.Met519Leu) c.1471A>C (p.Met491Leu) c.1399A>C (p.Met467Leu) c.694A>C (p.Met232Leu) | gnomAD v4 |
| 9 | g.137762743A>G | CA375769159 | EHMT1 | c.1570A>G (p.Met524Val) c.1456A>G (p.Met486Val) c.1477A>G (p.Met493Val) c.1610A>G (n.1610A>G) c.1515A>G c.1197A>G c.739A>G (p.Met247Val) c.*1305A>G (n.*1305A>G) c.427A>G (p.Met143Val) c.262A>G (p.Met88Val) c.663A>G c.1561A>G (p.Met521Val) c.1552A>G (p.Met518Val) c.1579A>G (p.Met527Val) c.1576A>G (p.Met526Val) c.1558A>G (p.Met520Val) c.1501A>G (p.Met501Val) c.1A>G (p.Met1Val) c.1549A>G (p.Met517Val) c.1555A>G (p.Met519Val) c.1471A>G (p.Met491Val) c.1399A>G (p.Met467Val) c.694A>G (p.Met232Val) | |
| 9 | g.137762743A>T | CA375769162 | EHMT1 | c.1570A>T (p.Met524Leu) c.1456A>T (p.Met486Leu) c.1477A>T (p.Met493Leu) c.1610A>T (n.1610A>T) c.1515A>T c.1197A>T c.739A>T (p.Met247Leu) c.*1305A>T (n.*1305A>T) c.427A>T (p.Met143Leu) c.262A>T (p.Met88Leu) c.663A>T c.1561A>T (p.Met521Leu) c.1552A>T (p.Met518Leu) c.1579A>T (p.Met527Leu) c.1576A>T (p.Met526Leu) c.1558A>T (p.Met520Leu) c.1501A>T (p.Met501Leu) c.1A>T (p.Met1Leu) c.1549A>T (p.Met517Leu) c.1555A>T (p.Met519Leu) c.1471A>T (p.Met491Leu) c.1399A>T (p.Met467Leu) c.694A>T (p.Met232Leu) | ClinVar dbSNP |
| 9 | g.137762744T>A | CA375769184 | EHMT1 | c.1571T>A (p.Met524Lys) c.1457T>A (p.Met486Lys) c.1478T>A (p.Met493Lys) c.1611T>A (n.1611T>A) c.1516T>A c.1198T>A c.740T>A (p.Met247Lys) c.*1306T>A (n.*1306T>A) c.428T>A (p.Met143Lys) c.263T>A (p.Met88Lys) c.664T>A c.1562T>A (p.Met521Lys) c.1553T>A (p.Met518Lys) c.1580T>A (p.Met527Lys) c.1577T>A (p.Met526Lys) c.1559T>A (p.Met520Lys) c.1502T>A (p.Met501Lys) c.2T>A (p.Met1Lys) c.1550T>A (p.Met517Lys) c.1556T>A (p.Met519Lys) c.1472T>A (p.Met491Lys) c.1400T>A (p.Met467Lys) c.695T>A (p.Met232Lys) | |
| 9 | g.137762744T>C | CA375769180 | EHMT1 | c.1571T>C (p.Met524Thr) c.1457T>C (p.Met486Thr) c.1478T>C (p.Met493Thr) c.1611T>C (n.1611T>C) c.1516T>C c.1198T>C c.740T>C (p.Met247Thr) c.*1306T>C (n.*1306T>C) c.428T>C (p.Met143Thr) c.263T>C (p.Met88Thr) c.664T>C c.1562T>C (p.Met521Thr) c.1553T>C (p.Met518Thr) c.1580T>C (p.Met527Thr) c.1577T>C (p.Met526Thr) c.1559T>C (p.Met520Thr) c.1502T>C (p.Met501Thr) c.2T>C (p.Met1Thr) c.1550T>C (p.Met517Thr) c.1556T>C (p.Met519Thr) c.1472T>C (p.Met491Thr) c.1400T>C (p.Met467Thr) c.695T>C (p.Met232Thr) | |
| 9 | g.137762744T>G | CA375769176 | EHMT1 | c.1571T>G (p.Met524Arg) c.1457T>G (p.Met486Arg) c.1478T>G (p.Met493Arg) c.1611T>G (n.1611T>G) c.1516T>G c.1198T>G c.740T>G (p.Met247Arg) c.*1306T>G (n.*1306T>G) c.428T>G (p.Met143Arg) c.263T>G (p.Met88Arg) c.664T>G c.1562T>G (p.Met521Arg) c.1553T>G (p.Met518Arg) c.1580T>G (p.Met527Arg) c.1577T>G (p.Met526Arg) c.1559T>G (p.Met520Arg) c.1502T>G (p.Met501Arg) c.2T>G (p.Met1Arg) c.1550T>G (p.Met517Arg) c.1556T>G (p.Met519Arg) c.1472T>G (p.Met491Arg) c.1400T>G (p.Met467Arg) c.695T>G (p.Met232Arg) | |
| 9 | g.137762745G>A | CA375769190 | EHMT1 | c.1572G>A (p.Met524Ile) c.1458G>A (p.Met486Ile) c.1479G>A (p.Met493Ile) c.1612G>A (n.1612G>A) c.1517G>A c.1199G>A c.741G>A (p.Met247Ile) c.*1307G>A (n.*1307G>A) c.429G>A (p.Met143Ile) c.264G>A (p.Met88Ile) c.665G>A c.1563G>A (p.Met521Ile) c.1554G>A (p.Met518Ile) c.1581G>A (p.Met527Ile) c.1578G>A (p.Met526Ile) c.1560G>A (p.Met520Ile) c.1503G>A (p.Met501Ile) c.3G>A (p.Met1Ile) c.1551G>A (p.Met517Ile) c.1557G>A (p.Met519Ile) c.1473G>A (p.Met491Ile) c.1401G>A (p.Met467Ile) c.696G>A (p.Met232Ile) | gnomAD v4 |
| 9 | g.137762745G>C | CA375769193 | EHMT1 | c.1572G>C (p.Met524Ile) c.1458G>C (p.Met486Ile) c.1479G>C (p.Met493Ile) c.1612G>C (n.1612G>C) c.1517G>C c.1199G>C c.741G>C (p.Met247Ile) c.*1307G>C (n.*1307G>C) c.429G>C (p.Met143Ile) c.264G>C (p.Met88Ile) c.665G>C c.1563G>C (p.Met521Ile) c.1554G>C (p.Met518Ile) c.1581G>C (p.Met527Ile) c.1578G>C (p.Met526Ile) c.1560G>C (p.Met520Ile) c.1503G>C (p.Met501Ile) c.3G>C (p.Met1Ile) c.1551G>C (p.Met517Ile) c.1557G>C (p.Met519Ile) c.1473G>C (p.Met491Ile) c.1401G>C (p.Met467Ile) c.696G>C (p.Met232Ile) | |
| 9 | g.137762745G>T | CA375769197 | EHMT1 | c.1572G>T (p.Met524Ile) c.1458G>T (p.Met486Ile) c.1479G>T (p.Met493Ile) c.1612G>T (n.1612G>T) c.1517G>T c.1199G>T c.741G>T (p.Met247Ile) c.*1307G>T (n.*1307G>T) c.429G>T (p.Met143Ile) c.264G>T (p.Met88Ile) c.665G>T c.1563G>T (p.Met521Ile) c.1554G>T (p.Met518Ile) c.1581G>T (p.Met527Ile) c.1578G>T (p.Met526Ile) c.1560G>T (p.Met520Ile) c.1503G>T (p.Met501Ile) c.3G>T (p.Met1Ile) c.1551G>T (p.Met517Ile) c.1557G>T (p.Met519Ile) c.1473G>T (p.Met491Ile) c.1401G>T (p.Met467Ile) c.696G>T (p.Met232Ile) | |
| 9 | g.137762746G>A | CA375769199 | EHMT1 | c.1573G>A (p.Glu525Lys) c.1459G>A (p.Glu487Lys) c.1480G>A (p.Glu494Lys) c.1613G>A (n.1613G>A) c.1518G>A c.1200G>A c.742G>A (p.Glu248Lys) c.*1308G>A (n.*1308G>A) c.430G>A (p.Glu144Lys) c.265G>A (p.Glu89Lys) c.666G>A c.1564G>A (p.Glu522Lys) c.1555G>A (p.Glu519Lys) c.1582G>A (p.Glu528Lys) c.1579G>A (p.Glu527Lys) c.1561G>A (p.Glu521Lys) c.1504G>A (p.Glu502Lys) c.4G>A (p.Glu2Lys) c.1552G>A (p.Glu518Lys) c.1558G>A (p.Glu520Lys) c.1474G>A (p.Glu492Lys) c.1402G>A (p.Glu468Lys) c.697G>A (p.Glu233Lys) | |
| 9 | g.137762746G>C | CA375769202 | EHMT1 | c.1573G>C (p.Glu525Gln) c.1459G>C (p.Glu487Gln) c.1480G>C (p.Glu494Gln) c.1613G>C (n.1613G>C) c.1518G>C c.1200G>C c.742G>C (p.Glu248Gln) c.*1308G>C (n.*1308G>C) c.430G>C (p.Glu144Gln) c.265G>C (p.Glu89Gln) c.666G>C c.1564G>C (p.Glu522Gln) c.1555G>C (p.Glu519Gln) c.1582G>C (p.Glu528Gln) c.1579G>C (p.Glu527Gln) c.1561G>C (p.Glu521Gln) c.1504G>C (p.Glu502Gln) c.4G>C (p.Glu2Gln) c.1552G>C (p.Glu518Gln) c.1558G>C (p.Glu520Gln) c.1474G>C (p.Glu492Gln) c.1402G>C (p.Glu468Gln) c.697G>C (p.Glu233Gln) | |
| 9 | g.137762746G>T | CA375769204 | EHMT1 | c.1573G>T (p.Glu525Ter) c.1459G>T (p.Glu487Ter) c.1480G>T (p.Glu494Ter) c.1613G>T (n.1613G>T) c.1518G>T c.1200G>T c.742G>T (p.Glu248Ter) c.*1308G>T (n.*1308G>T) c.430G>T (p.Glu144Ter) c.265G>T (p.Glu89Ter) c.666G>T c.1564G>T (p.Glu522Ter) c.1555G>T (p.Glu519Ter) c.1582G>T (p.Glu528Ter) c.1579G>T (p.Glu527Ter) c.1561G>T (p.Glu521Ter) c.1504G>T (p.Glu502Ter) c.4G>T (p.Glu2Ter) c.1552G>T (p.Glu518Ter) c.1558G>T (p.Glu520Ter) c.1474G>T (p.Glu492Ter) c.1402G>T (p.Glu468Ter) c.697G>T (p.Glu233Ter) | |
| 9 | g.137762747A>C | CA375769205 | EHMT1 | c.1574A>C (p.Glu525Ala) c.1460A>C (p.Glu487Ala) c.1481A>C (p.Glu494Ala) c.1614A>C (n.1614A>C) c.1519A>C c.1201A>C c.743A>C (p.Glu248Ala) c.*1309A>C (n.*1309A>C) c.431A>C (p.Glu144Ala) c.266A>C (p.Glu89Ala) c.667A>C c.1565A>C (p.Glu522Ala) c.1556A>C (p.Glu519Ala) c.1583A>C (p.Glu528Ala) c.1580A>C (p.Glu527Ala) c.1562A>C (p.Glu521Ala) c.1505A>C (p.Glu502Ala) c.5A>C (p.Glu2Ala) c.1553A>C (p.Glu518Ala) c.1559A>C (p.Glu520Ala) c.1475A>C (p.Glu492Ala) c.1403A>C (p.Glu468Ala) c.698A>C (p.Glu233Ala) | |
| 9 | g.137762747A>G | CA375769219 | EHMT1 | c.1574A>G (p.Glu525Gly) c.1460A>G (p.Glu487Gly) c.1481A>G (p.Glu494Gly) c.1614A>G (n.1614A>G) c.1519A>G c.1201A>G c.743A>G (p.Glu248Gly) c.*1309A>G (n.*1309A>G) c.431A>G (p.Glu144Gly) c.266A>G (p.Glu89Gly) c.667A>G c.1565A>G (p.Glu522Gly) c.1556A>G (p.Glu519Gly) c.1583A>G (p.Glu528Gly) c.1580A>G (p.Glu527Gly) c.1562A>G (p.Glu521Gly) c.1505A>G (p.Glu502Gly) c.5A>G (p.Glu2Gly) c.1553A>G (p.Glu518Gly) c.1559A>G (p.Glu520Gly) c.1475A>G (p.Glu492Gly) c.1403A>G (p.Glu468Gly) c.698A>G (p.Glu233Gly) | |
| 9 | g.137762747A>T | CA375769208 | EHMT1 | c.1574A>T (p.Glu525Val) c.1460A>T (p.Glu487Val) c.1481A>T (p.Glu494Val) c.1614A>T (n.1614A>T) c.1519A>T c.1201A>T c.743A>T (p.Glu248Val) c.*1309A>T (n.*1309A>T) c.431A>T (p.Glu144Val) c.266A>T (p.Glu89Val) c.667A>T c.1565A>T (p.Glu522Val) c.1556A>T (p.Glu519Val) c.1583A>T (p.Glu528Val) c.1580A>T (p.Glu527Val) c.1562A>T (p.Glu521Val) c.1505A>T (p.Glu502Val) c.5A>T (p.Glu2Val) c.1553A>T (p.Glu518Val) c.1559A>T (p.Glu520Val) c.1475A>T (p.Glu492Val) c.1403A>T (p.Glu468Val) c.698A>T (p.Glu233Val) | |
| 9 | g.137762748A>C | CA375769225 | EHMT1 | c.1575A>C (p.Glu525Asp) c.1461A>C (p.Glu487Asp) c.1482A>C (p.Glu494Asp) c.1615A>C (n.1615A>C) c.1520A>C c.1202A>C c.744A>C (p.Glu248Asp) c.*1310A>C (n.*1310A>C) c.432A>C (p.Glu144Asp) c.267A>C (p.Glu89Asp) c.668A>C c.1566A>C (p.Glu522Asp) c.1557A>C (p.Glu519Asp) c.1584A>C (p.Glu528Asp) c.1581A>C (p.Glu527Asp) c.1563A>C (p.Glu521Asp) c.1506A>C (p.Glu502Asp) c.6A>C (p.Glu2Asp) c.1554A>C (p.Glu518Asp) c.1560A>C (p.Glu520Asp) c.1476A>C (p.Glu492Asp) c.1404A>C (p.Glu468Asp) c.699A>C (p.Glu233Asp) | |
| 9 | g.137762748A>G | CA467873891 | EHMT1 | c.1575A>G (p.Glu525=) c.1461A>G (p.Glu487=) c.1482A>G (p.Glu494=) c.1615A>G (n.1615A>G) c.1520A>G c.1202A>G c.744A>G (p.Glu248=) c.*1310A>G (n.*1310A>G) c.432A>G (p.Glu144=) c.267A>G (p.Glu89=) c.668A>G c.1566A>G (p.Glu522=) c.1557A>G (p.Glu519=) c.1584A>G (p.Glu528=) c.1581A>G (p.Glu527=) c.1563A>G (p.Glu521=) c.1506A>G (p.Glu502=) c.6A>G (p.Glu2=) c.1554A>G (p.Glu518=) c.1560A>G (p.Glu520=) c.1476A>G (p.Glu492=) c.1404A>G (p.Glu468=) c.699A>G (p.Glu233=) | |
| 9 | g.137762748A>T | CA375769229 | EHMT1 | c.1575A>T (p.Glu525Asp) c.1461A>T (p.Glu487Asp) c.1482A>T (p.Glu494Asp) c.1615A>T (n.1615A>T) c.1520A>T c.1202A>T c.744A>T (p.Glu248Asp) c.*1310A>T (n.*1310A>T) c.432A>T (p.Glu144Asp) c.267A>T (p.Glu89Asp) c.668A>T c.1566A>T (p.Glu522Asp) c.1557A>T (p.Glu519Asp) c.1584A>T (p.Glu528Asp) c.1581A>T (p.Glu527Asp) c.1563A>T (p.Glu521Asp) c.1506A>T (p.Glu502Asp) c.6A>T (p.Glu2Asp) c.1554A>T (p.Glu518Asp) c.1560A>T (p.Glu520Asp) c.1476A>T (p.Glu492Asp) c.1404A>T (p.Glu468Asp) c.699A>T (p.Glu233Asp) | |
| 9 | g.137762749A= | CA1884659576 | EHMT1 | c.1576A= (p.Thr526=) c.1462A= (p.Thr488=) c.1483A= (p.Thr495=) c.1616A= (n.1616A=) c.1521A= c.1203A= c.745A= (p.Thr249=) c.*1311A= (n.*1311A=) c.433A= (p.Thr145=) c.268A= (p.Thr90=) c.669A= c.1567A= (p.Thr523=) c.1558A= (p.Thr520=) c.1585A= (p.Thr529=) c.1582A= (p.Thr528=) c.1564A= (p.Thr522=) c.1507A= (p.Thr503=) c.7A= (p.Thr3=) c.1555A= (p.Thr519=) c.1561A= (p.Thr521=) c.1477A= (p.Thr493=) c.1405A= (p.Thr469=) c.700A= (p.Thr234=) | |
| 9 | g.137762749A>C | CA375769230 | EHMT1 | c.1576A>C (p.Thr526Pro) c.1462A>C (p.Thr488Pro) c.1483A>C (p.Thr495Pro) c.1616A>C (n.1616A>C) c.1521A>C c.1203A>C c.745A>C (p.Thr249Pro) c.*1311A>C (n.*1311A>C) c.433A>C (p.Thr145Pro) c.268A>C (p.Thr90Pro) c.669A>C c.1567A>C (p.Thr523Pro) c.1558A>C (p.Thr520Pro) c.1585A>C (p.Thr529Pro) c.1582A>C (p.Thr528Pro) c.1564A>C (p.Thr522Pro) c.1507A>C (p.Thr503Pro) c.7A>C (p.Thr3Pro) c.1555A>C (p.Thr519Pro) c.1561A>C (p.Thr521Pro) c.1477A>C (p.Thr493Pro) c.1405A>C (p.Thr469Pro) c.700A>C (p.Thr234Pro) | |
| 9 | g.137762749A>G | CA5374665 | EHMT1 | c.1576A>G (p.Thr526Ala) c.1462A>G (p.Thr488Ala) c.1483A>G (p.Thr495Ala) c.1616A>G (n.1616A>G) c.1521A>G c.1203A>G c.745A>G (p.Thr249Ala) c.*1311A>G (n.*1311A>G) c.433A>G (p.Thr145Ala) c.268A>G (p.Thr90Ala) c.669A>G c.1567A>G (p.Thr523Ala) c.1558A>G (p.Thr520Ala) c.1585A>G (p.Thr529Ala) c.1582A>G (p.Thr528Ala) c.1564A>G (p.Thr522Ala) c.1507A>G (p.Thr503Ala) c.7A>G (p.Thr3Ala) c.1555A>G (p.Thr519Ala) c.1561A>G (p.Thr521Ala) c.1477A>G (p.Thr493Ala) c.1405A>G (p.Thr469Ala) c.700A>G (p.Thr234Ala) | dbSNP ExAC |
| 9 | g.137762749A>T | CA375769231 | EHMT1 | c.1576A>T (p.Thr526Ser) c.1462A>T (p.Thr488Ser) c.1483A>T (p.Thr495Ser) c.1616A>T (n.1616A>T) c.1521A>T c.1203A>T c.745A>T (p.Thr249Ser) c.*1311A>T (n.*1311A>T) c.433A>T (p.Thr145Ser) c.268A>T (p.Thr90Ser) c.669A>T c.1567A>T (p.Thr523Ser) c.1558A>T (p.Thr520Ser) c.1585A>T (p.Thr529Ser) c.1582A>T (p.Thr528Ser) c.1564A>T (p.Thr522Ser) c.1507A>T (p.Thr503Ser) c.7A>T (p.Thr3Ser) c.1555A>T (p.Thr519Ser) c.1561A>T (p.Thr521Ser) c.1477A>T (p.Thr493Ser) c.1405A>T (p.Thr469Ser) c.700A>T (p.Thr234Ser) | |
| 9 | g.137762750C>A | CA375769232 | EHMT1 | c.1577C>A (p.Thr526Lys) c.1463C>A (p.Thr488Lys) c.1484C>A (p.Thr495Lys) c.1617C>A (n.1617C>A) c.1522C>A c.1204C>A c.746C>A (p.Thr249Lys) c.*1312C>A (n.*1312C>A) c.434C>A (p.Thr145Lys) c.269C>A (p.Thr90Lys) c.670C>A c.1568C>A (p.Thr523Lys) c.1559C>A (p.Thr520Lys) c.1586C>A (p.Thr529Lys) c.1583C>A (p.Thr528Lys) c.1565C>A (p.Thr522Lys) c.1508C>A (p.Thr503Lys) c.8C>A (p.Thr3Lys) c.1556C>A (p.Thr519Lys) c.1562C>A (p.Thr521Lys) c.1478C>A (p.Thr493Lys) c.1406C>A (p.Thr469Lys) c.701C>A (p.Thr234Lys) | |
| 9 | g.137762750C>G | CA375769236 | EHMT1 | c.1577C>G (p.Thr526Arg) c.1463C>G (p.Thr488Arg) c.1484C>G (p.Thr495Arg) c.1617C>G (n.1617C>G) c.1522C>G c.1204C>G c.746C>G (p.Thr249Arg) c.*1312C>G (n.*1312C>G) c.434C>G (p.Thr145Arg) c.269C>G (p.Thr90Arg) c.670C>G c.1568C>G (p.Thr523Arg) c.1559C>G (p.Thr520Arg) c.1586C>G (p.Thr529Arg) c.1583C>G (p.Thr528Arg) c.1565C>G (p.Thr522Arg) c.1508C>G (p.Thr503Arg) c.8C>G (p.Thr3Arg) c.1556C>G (p.Thr519Arg) c.1562C>G (p.Thr521Arg) c.1478C>G (p.Thr493Arg) c.1406C>G (p.Thr469Arg) c.701C>G (p.Thr234Arg) | |
| 9 | g.137762750C>T | CA375769246 | EHMT1 | c.1577C>T (p.Thr526Ile) c.1463C>T (p.Thr488Ile) c.1484C>T (p.Thr495Ile) c.1617C>T (n.1617C>T) c.1522C>T c.1204C>T c.746C>T (p.Thr249Ile) c.*1312C>T (n.*1312C>T) c.434C>T (p.Thr145Ile) c.269C>T (p.Thr90Ile) c.670C>T c.1568C>T (p.Thr523Ile) c.1559C>T (p.Thr520Ile) c.1586C>T (p.Thr529Ile) c.1583C>T (p.Thr528Ile) c.1565C>T (p.Thr522Ile) c.1508C>T (p.Thr503Ile) c.8C>T (p.Thr3Ile) c.1556C>T (p.Thr519Ile) c.1562C>T (p.Thr521Ile) c.1478C>T (p.Thr493Ile) c.1406C>T (p.Thr469Ile) c.701C>T (p.Thr234Ile) | |
| 9 | g.137762751A>C | CA467873892 | EHMT1 | c.1578A>C (p.Thr526=) c.1464A>C (p.Thr488=) c.1485A>C (p.Thr495=) c.1618A>C (n.1618A>C) c.1523A>C c.1205A>C c.747A>C (p.Thr249=) c.*1313A>C (n.*1313A>C) c.435A>C (p.Thr145=) c.270A>C (p.Thr90=) c.671A>C c.1569A>C (p.Thr523=) c.1560A>C (p.Thr520=) c.1587A>C (p.Thr529=) c.1584A>C (p.Thr528=) c.1566A>C (p.Thr522=) c.1509A>C (p.Thr503=) c.9A>C (p.Thr3=) c.1557A>C (p.Thr519=) c.1563A>C (p.Thr521=) c.1479A>C (p.Thr493=) c.1407A>C (p.Thr469=) c.702A>C (p.Thr234=) | |
| 9 | g.137762751A>G | CA467873893 | EHMT1 | c.1578A>G (p.Thr526=) c.1464A>G (p.Thr488=) c.1485A>G (p.Thr495=) c.1618A>G (n.1618A>G) c.1523A>G c.1205A>G c.747A>G (p.Thr249=) c.*1313A>G (n.*1313A>G) c.435A>G (p.Thr145=) c.270A>G (p.Thr90=) c.671A>G c.1569A>G (p.Thr523=) c.1560A>G (p.Thr520=) c.1587A>G (p.Thr529=) c.1584A>G (p.Thr528=) c.1566A>G (p.Thr522=) c.1509A>G (p.Thr503=) c.9A>G (p.Thr3=) c.1557A>G (p.Thr519=) c.1563A>G (p.Thr521=) c.1479A>G (p.Thr493=) c.1407A>G (p.Thr469=) c.702A>G (p.Thr234=) | gnomAD v4 |
| 9 | g.137762751A>T | CA467873894 | EHMT1 | c.1578A>T (p.Thr526=) c.1464A>T (p.Thr488=) c.1485A>T (p.Thr495=) c.1618A>T (n.1618A>T) c.1523A>T c.1205A>T c.747A>T (p.Thr249=) c.*1313A>T (n.*1313A>T) c.435A>T (p.Thr145=) c.270A>T (p.Thr90=) c.671A>T c.1569A>T (p.Thr523=) c.1560A>T (p.Thr520=) c.1587A>T (p.Thr529=) c.1584A>T (p.Thr528=) c.1566A>T (p.Thr522=) c.1509A>T (p.Thr503=) c.9A>T (p.Thr3=) c.1557A>T (p.Thr519=) c.1563A>T (p.Thr521=) c.1479A>T (p.Thr493=) c.1407A>T (p.Thr469=) c.702A>T (p.Thr234=) | |
| 9 | g.137762752C>A | CA5374666 | EHMT1 | c.1579C>A (p.Pro527Thr) c.1465C>A (p.Pro489Thr) c.1486C>A (p.Pro496Thr) c.1619C>A (n.1619C>A) c.1524C>A c.1206C>A c.748C>A (p.Pro250Thr) c.*1314C>A (n.*1314C>A) c.436C>A (p.Pro146Thr) c.271C>A (p.Pro91Thr) c.672C>A c.1570C>A (p.Pro524Thr) c.1561C>A (p.Pro521Thr) c.1588C>A (p.Pro530Thr) c.1585C>A (p.Pro529Thr) c.1567C>A (p.Pro523Thr) c.1510C>A (p.Pro504Thr) c.10C>A (p.Pro4Thr) c.1558C>A (p.Pro520Thr) c.1564C>A (p.Pro522Thr) c.1480C>A (p.Pro494Thr) c.1408C>A (p.Pro470Thr) c.703C>A (p.Pro235Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137762752C= | CA1884659577 | EHMT1 | c.1579C= (p.Pro527=) c.1465C= (p.Pro489=) c.1486C= (p.Pro496=) c.1619C= (n.1619C=) c.1524C= c.1206C= c.748C= (p.Pro250=) c.*1314C= (n.*1314C=) c.436C= (p.Pro146=) c.271C= (p.Pro91=) c.672C= c.1570C= (p.Pro524=) c.1561C= (p.Pro521=) c.1588C= (p.Pro530=) c.1585C= (p.Pro529=) c.1567C= (p.Pro523=) c.1510C= (p.Pro504=) c.10C= (p.Pro4=) c.1558C= (p.Pro520=) c.1564C= (p.Pro522=) c.1480C= (p.Pro494=) c.1408C= (p.Pro470=) c.703C= (p.Pro235=) | |
| 9 | g.137762752C>G | CA375769254 | EHMT1 | c.1579C>G (p.Pro527Ala) c.1465C>G (p.Pro489Ala) c.1486C>G (p.Pro496Ala) c.1619C>G (n.1619C>G) c.1524C>G c.1206C>G c.748C>G (p.Pro250Ala) c.*1314C>G (n.*1314C>G) c.436C>G (p.Pro146Ala) c.271C>G (p.Pro91Ala) c.672C>G c.1570C>G (p.Pro524Ala) c.1561C>G (p.Pro521Ala) c.1588C>G (p.Pro530Ala) c.1585C>G (p.Pro529Ala) c.1567C>G (p.Pro523Ala) c.1510C>G (p.Pro504Ala) c.10C>G (p.Pro4Ala) c.1558C>G (p.Pro520Ala) c.1564C>G (p.Pro522Ala) c.1480C>G (p.Pro494Ala) c.1408C>G (p.Pro470Ala) c.703C>G (p.Pro235Ala) | |
| 9 | g.137762752C>T | CA375769256 | EHMT1 | c.1579C>T (p.Pro527Ser) c.1465C>T (p.Pro489Ser) c.1486C>T (p.Pro496Ser) c.1619C>T (n.1619C>T) c.1524C>T c.1206C>T c.748C>T (p.Pro250Ser) c.*1314C>T (n.*1314C>T) c.436C>T (p.Pro146Ser) c.271C>T (p.Pro91Ser) c.672C>T c.1570C>T (p.Pro524Ser) c.1561C>T (p.Pro521Ser) c.1588C>T (p.Pro530Ser) c.1585C>T (p.Pro529Ser) c.1567C>T (p.Pro523Ser) c.1510C>T (p.Pro504Ser) c.10C>T (p.Pro4Ser) c.1558C>T (p.Pro520Ser) c.1564C>T (p.Pro522Ser) c.1480C>T (p.Pro494Ser) c.1408C>T (p.Pro470Ser) c.703C>T (p.Pro235Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137762753C>A | CA375769260 | EHMT1 | c.1580C>A (p.Pro527Gln) c.1466C>A (p.Pro489Gln) c.1487C>A (p.Pro496Gln) c.1620C>A (n.1620C>A) c.1525C>A c.1207C>A c.749C>A (p.Pro250Gln) c.*1315C>A (n.*1315C>A) c.437C>A (p.Pro146Gln) c.272C>A (p.Pro91Gln) c.673C>A c.1571C>A (p.Pro524Gln) c.1562C>A (p.Pro521Gln) c.1589C>A (p.Pro530Gln) c.1586C>A (p.Pro529Gln) c.1568C>A (p.Pro523Gln) c.1511C>A (p.Pro504Gln) c.11C>A (p.Pro4Gln) c.1559C>A (p.Pro520Gln) c.1565C>A (p.Pro522Gln) c.1481C>A (p.Pro494Gln) c.1409C>A (p.Pro470Gln) c.704C>A (p.Pro235Gln) | |
| 9 | g.137762753C= | CA1884659578 | EHMT1 | c.1580C= (p.Pro527=) c.1466C= (p.Pro489=) c.1487C= (p.Pro496=) c.1620C= (n.1620C=) c.1525C= c.1207C= c.749C= (p.Pro250=) c.*1315C= (n.*1315C=) c.437C= (p.Pro146=) c.272C= (p.Pro91=) c.673C= c.1571C= (p.Pro524=) c.1562C= (p.Pro521=) c.1589C= (p.Pro530=) c.1586C= (p.Pro529=) c.1568C= (p.Pro523=) c.1511C= (p.Pro504=) c.11C= (p.Pro4=) c.1559C= (p.Pro520=) c.1565C= (p.Pro522=) c.1481C= (p.Pro494=) c.1409C= (p.Pro470=) c.704C= (p.Pro235=) | |
| 9 | g.137762753C>G | CA375769264 | EHMT1 | c.1580C>G (p.Pro527Arg) c.1466C>G (p.Pro489Arg) c.1487C>G (p.Pro496Arg) c.1620C>G (n.1620C>G) c.1525C>G c.1207C>G c.749C>G (p.Pro250Arg) c.*1315C>G (n.*1315C>G) c.437C>G (p.Pro146Arg) c.272C>G (p.Pro91Arg) c.673C>G c.1571C>G (p.Pro524Arg) c.1562C>G (p.Pro521Arg) c.1589C>G (p.Pro530Arg) c.1586C>G (p.Pro529Arg) c.1568C>G (p.Pro523Arg) c.1511C>G (p.Pro504Arg) c.11C>G (p.Pro4Arg) c.1559C>G (p.Pro520Arg) c.1565C>G (p.Pro522Arg) c.1481C>G (p.Pro494Arg) c.1409C>G (p.Pro470Arg) c.704C>G (p.Pro235Arg) | gnomAD v4 |
| 9 | g.137762753C>T | CA5374667 | EHMT1 | c.1580C>T (p.Pro527Leu) c.1466C>T (p.Pro489Leu) c.1487C>T (p.Pro496Leu) c.1620C>T (n.1620C>T) c.1525C>T c.1207C>T c.749C>T (p.Pro250Leu) c.*1315C>T (n.*1315C>T) c.437C>T (p.Pro146Leu) c.272C>T (p.Pro91Leu) c.673C>T c.1571C>T (p.Pro524Leu) c.1562C>T (p.Pro521Leu) c.1589C>T (p.Pro530Leu) c.1586C>T (p.Pro529Leu) c.1568C>T (p.Pro523Leu) c.1511C>T (p.Pro504Leu) c.11C>T (p.Pro4Leu) c.1559C>T (p.Pro520Leu) c.1565C>T (p.Pro522Leu) c.1481C>T (p.Pro494Leu) c.1409C>T (p.Pro470Leu) c.704C>T (p.Pro235Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137762756_137762763dup | CA2692881776 | EHMT1 | c.1583_1590dup (p.Glu531ArgfsTer?) c.1583_1590dup (p.Glu531ArgfsTer23) c.1469_1476dup (p.Glu493ArgfsTer?) c.1490_1497dup (p.Glu500ArgfsTer?) c.1623_1630dup (n.1623_1630dup) c.1528_1535dup c.1210_1217dup c.752_759dup (p.Glu254ArgfsTer?) c.*1318_*1325dup (n.*1318_*1325dup) c.440_447dup (p.Glu150ArgfsTer?) c.275_282dup (p.Glu95ArgfsTer?) c.676_683dup c.1574_1581dup (p.Glu528ArgfsTer?) c.1565_1572dup (p.Glu525ArgfsTer?) c.1592_1599dup (p.Glu534ArgfsTer?) c.1589_1596dup (p.Glu533ArgfsTer?) c.1571_1578dup (p.Glu527ArgfsTer?) c.1514_1521dup (p.Glu508ArgfsTer?) c.14_21dup (p.Glu8ArgfsTer?) c.1562_1569dup (p.Glu524ArgfsTer?) c.1490_1497dup (p.Glu500ArgfsTer23) c.1568_1575dup (p.Glu526ArgfsTer?) c.1484_1491dup (p.Glu498ArgfsTer?) c.1412_1419dup (p.Glu474ArgfsTer?) c.707_714dup (p.Glu239ArgfsTer?) | gnomAD v4 |
| 9 | g.137762754G>A | CA5374668 | EHMT1 | c.1581G>A (p.Pro527=) c.1467G>A (p.Pro489=) c.1488G>A (p.Pro496=) c.1621G>A (n.1621G>A) c.1526G>A c.1208G>A c.750G>A (p.Pro250=) c.*1316G>A (n.*1316G>A) c.438G>A (p.Pro146=) c.273G>A (p.Pro91=) c.674G>A c.1572G>A (p.Pro524=) c.1563G>A (p.Pro521=) c.1590G>A (p.Pro530=) c.1587G>A (p.Pro529=) c.1569G>A (p.Pro523=) c.1512G>A (p.Pro504=) c.12G>A (p.Pro4=) c.1560G>A (p.Pro520=) c.1566G>A (p.Pro522=) c.1482G>A (p.Pro494=) c.1410G>A (p.Pro470=) c.705G>A (p.Pro235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137762754G>C | CA467873895 | EHMT1 | c.1581G>C (p.Pro527=) c.1467G>C (p.Pro489=) c.1488G>C (p.Pro496=) c.1621G>C (n.1621G>C) c.1526G>C c.1208G>C c.750G>C (p.Pro250=) c.*1316G>C (n.*1316G>C) c.438G>C (p.Pro146=) c.273G>C (p.Pro91=) c.674G>C c.1572G>C (p.Pro524=) c.1563G>C (p.Pro521=) c.1590G>C (p.Pro530=) c.1587G>C (p.Pro529=) c.1569G>C (p.Pro523=) c.1512G>C (p.Pro504=) c.12G>C (p.Pro4=) c.1560G>C (p.Pro520=) c.1566G>C (p.Pro522=) c.1482G>C (p.Pro494=) c.1410G>C (p.Pro470=) c.705G>C (p.Pro235=) | gnomAD v4 |
| 9 | g.137762754G= | CA1884659579 | EHMT1 | c.1581G= (p.Pro527=) c.1467G= (p.Pro489=) c.1488G= (p.Pro496=) c.1621G= (n.1621G=) c.1526G= c.1208G= c.750G= (p.Pro250=) c.*1316G= (n.*1316G=) c.438G= (p.Pro146=) c.273G= (p.Pro91=) c.674G= c.1572G= (p.Pro524=) c.1563G= (p.Pro521=) c.1590G= (p.Pro530=) c.1587G= (p.Pro529=) c.1569G= (p.Pro523=) c.1512G= (p.Pro504=) c.12G= (p.Pro4=) c.1560G= (p.Pro520=) c.1566G= (p.Pro522=) c.1482G= (p.Pro494=) c.1410G= (p.Pro470=) c.705G= (p.Pro235=) | |
| 9 | g.137762754G>T | CA467873896 | EHMT1 | c.1581G>T (p.Pro527=) c.1467G>T (p.Pro489=) c.1488G>T (p.Pro496=) c.1621G>T (n.1621G>T) c.1526G>T c.1208G>T c.750G>T (p.Pro250=) c.*1316G>T (n.*1316G>T) c.438G>T (p.Pro146=) c.273G>T (p.Pro91=) c.674G>T c.1572G>T (p.Pro524=) c.1563G>T (p.Pro521=) c.1590G>T (p.Pro530=) c.1587G>T (p.Pro529=) c.1569G>T (p.Pro523=) c.1512G>T (p.Pro504=) c.12G>T (p.Pro4=) c.1560G>T (p.Pro520=) c.1566G>T (p.Pro522=) c.1482G>T (p.Pro494=) c.1410G>T (p.Pro470=) c.705G>T (p.Pro235=) | |
| 9 | g.137762755A>C | CA375769270 | EHMT1 | c.1582A>C (p.Lys528Gln) c.1468A>C (p.Lys490Gln) c.1489A>C (p.Lys497Gln) c.1622A>C (n.1622A>C) c.1527A>C c.1209A>C c.751A>C (p.Lys251Gln) c.*1317A>C (n.*1317A>C) c.439A>C (p.Lys147Gln) c.274A>C (p.Lys92Gln) c.675A>C c.1573A>C (p.Lys525Gln) c.1564A>C (p.Lys522Gln) c.1591A>C (p.Lys531Gln) c.1588A>C (p.Lys530Gln) c.1570A>C (p.Lys524Gln) c.1513A>C (p.Lys505Gln) c.13A>C (p.Lys5Gln) c.1561A>C (p.Lys521Gln) c.1567A>C (p.Lys523Gln) c.1483A>C (p.Lys495Gln) c.1411A>C (p.Lys471Gln) c.706A>C (p.Lys236Gln) | |
| 9 | g.137762755A>G | CA375769278 | EHMT1 | c.1582A>G (p.Lys528Glu) c.1468A>G (p.Lys490Glu) c.1489A>G (p.Lys497Glu) c.1622A>G (n.1622A>G) c.1527A>G c.1209A>G c.751A>G (p.Lys251Glu) c.*1317A>G (n.*1317A>G) c.439A>G (p.Lys147Glu) c.274A>G (p.Lys92Glu) c.675A>G c.1573A>G (p.Lys525Glu) c.1564A>G (p.Lys522Glu) c.1591A>G (p.Lys531Glu) c.1588A>G (p.Lys530Glu) c.1570A>G (p.Lys524Glu) c.1513A>G (p.Lys505Glu) c.13A>G (p.Lys5Glu) c.1561A>G (p.Lys521Glu) c.1567A>G (p.Lys523Glu) c.1483A>G (p.Lys495Glu) c.1411A>G (p.Lys471Glu) c.706A>G (p.Lys236Glu) | |
| 9 | g.137762755A>T | CA375769281 | EHMT1 | c.1582A>T (p.Lys528Ter) c.1468A>T (p.Lys490Ter) c.1489A>T (p.Lys497Ter) c.1622A>T (n.1622A>T) c.1527A>T c.1209A>T c.751A>T (p.Lys251Ter) c.*1317A>T (n.*1317A>T) c.439A>T (p.Lys147Ter) c.274A>T (p.Lys92Ter) c.675A>T c.1573A>T (p.Lys525Ter) c.1564A>T (p.Lys522Ter) c.1591A>T (p.Lys531Ter) c.1588A>T (p.Lys530Ter) c.1570A>T (p.Lys524Ter) c.1513A>T (p.Lys505Ter) c.13A>T (p.Lys5Ter) c.1561A>T (p.Lys521Ter) c.1567A>T (p.Lys523Ter) c.1483A>T (p.Lys495Ter) c.1411A>T (p.Lys471Ter) c.706A>T (p.Lys236Ter) | |
| 9 | g.137762756A= | CA1884659580 | EHMT1 | c.1583A= (p.Lys528=) c.1469A= (p.Lys490=) c.1490A= (p.Lys497=) c.1623A= (n.1623A=) c.1528A= c.1210A= c.752A= (p.Lys251=) c.*1318A= (n.*1318A=) c.440A= (p.Lys147=) c.275A= (p.Lys92=) c.676A= c.1574A= (p.Lys525=) c.1565A= (p.Lys522=) c.1592A= (p.Lys531=) c.1589A= (p.Lys530=) c.1571A= (p.Lys524=) c.1514A= (p.Lys505=) c.14A= (p.Lys5=) c.1562A= (p.Lys521=) c.1568A= (p.Lys523=) c.1484A= (p.Lys495=) c.1412A= (p.Lys471=) c.707A= (p.Lys236=) | |
| 9 | g.137762756A>C | CA375769283 | EHMT1 | c.1583A>C (p.Lys528Thr) c.1469A>C (p.Lys490Thr) c.1490A>C (p.Lys497Thr) c.1623A>C (n.1623A>C) c.1528A>C c.1210A>C c.752A>C (p.Lys251Thr) c.*1318A>C (n.*1318A>C) c.440A>C (p.Lys147Thr) c.275A>C (p.Lys92Thr) c.676A>C c.1574A>C (p.Lys525Thr) c.1565A>C (p.Lys522Thr) c.1592A>C (p.Lys531Thr) c.1589A>C (p.Lys530Thr) c.1571A>C (p.Lys524Thr) c.1514A>C (p.Lys505Thr) c.14A>C (p.Lys5Thr) c.1562A>C (p.Lys521Thr) c.1568A>C (p.Lys523Thr) c.1484A>C (p.Lys495Thr) c.1412A>C (p.Lys471Thr) c.707A>C (p.Lys236Thr) | |
| 9 | g.137762756A>G | CA5374669 | EHMT1 | c.1583A>G (p.Lys528Arg) c.1469A>G (p.Lys490Arg) c.1490A>G (p.Lys497Arg) c.1623A>G (n.1623A>G) c.1528A>G c.1210A>G c.752A>G (p.Lys251Arg) c.*1318A>G (n.*1318A>G) c.440A>G (p.Lys147Arg) c.275A>G (p.Lys92Arg) c.676A>G c.1574A>G (p.Lys525Arg) c.1565A>G (p.Lys522Arg) c.1592A>G (p.Lys531Arg) c.1589A>G (p.Lys530Arg) c.1571A>G (p.Lys524Arg) c.1514A>G (p.Lys505Arg) c.14A>G (p.Lys5Arg) c.1562A>G (p.Lys521Arg) c.1568A>G (p.Lys523Arg) c.1484A>G (p.Lys495Arg) c.1412A>G (p.Lys471Arg) c.707A>G (p.Lys236Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137762756A>T | CA375769301 | EHMT1 | c.1583A>T (p.Lys528Met) c.1469A>T (p.Lys490Met) c.1490A>T (p.Lys497Met) c.1623A>T (n.1623A>T) c.1528A>T c.1210A>T c.752A>T (p.Lys251Met) c.*1318A>T (n.*1318A>T) c.440A>T (p.Lys147Met) c.275A>T (p.Lys92Met) c.676A>T c.1574A>T (p.Lys525Met) c.1565A>T (p.Lys522Met) c.1592A>T (p.Lys531Met) c.1589A>T (p.Lys530Met) c.1571A>T (p.Lys524Met) c.1514A>T (p.Lys505Met) c.14A>T (p.Lys5Met) c.1562A>T (p.Lys521Met) c.1568A>T (p.Lys523Met) c.1484A>T (p.Lys495Met) c.1412A>T (p.Lys471Met) c.707A>T (p.Lys236Met) | |
| 9 | g.137762757G>A | CA467873897 | EHMT1 | c.1584G>A (p.Lys528=) c.1470G>A (p.Lys490=) c.1491G>A (p.Lys497=) c.1624G>A (n.1624G>A) c.1529G>A c.1211G>A c.753G>A (p.Lys251=) c.*1319G>A (n.*1319G>A) c.441G>A (p.Lys147=) c.276G>A (p.Lys92=) c.677G>A c.1575G>A (p.Lys525=) c.1566G>A (p.Lys522=) c.1593G>A (p.Lys531=) c.1590G>A (p.Lys530=) c.1572G>A (p.Lys524=) c.1515G>A (p.Lys505=) c.15G>A (p.Lys5=) c.1563G>A (p.Lys521=) c.1569G>A (p.Lys523=) c.1485G>A (p.Lys495=) c.1413G>A (p.Lys471=) c.708G>A (p.Lys236=) | dbSNP gnomAD v4 |
| 9 | g.137762757G>C | CA375769312 | EHMT1 | c.1584G>C (p.Lys528Asn) c.1470G>C (p.Lys490Asn) c.1491G>C (p.Lys497Asn) c.1624G>C (n.1624G>C) c.1529G>C c.1211G>C c.753G>C (p.Lys251Asn) c.*1319G>C (n.*1319G>C) c.441G>C (p.Lys147Asn) c.276G>C (p.Lys92Asn) c.677G>C c.1575G>C (p.Lys525Asn) c.1566G>C (p.Lys522Asn) c.1593G>C (p.Lys531Asn) c.1590G>C (p.Lys530Asn) c.1572G>C (p.Lys524Asn) c.1515G>C (p.Lys505Asn) c.15G>C (p.Lys5Asn) c.1563G>C (p.Lys521Asn) c.1569G>C (p.Lys523Asn) c.1485G>C (p.Lys495Asn) c.1413G>C (p.Lys471Asn) c.708G>C (p.Lys236Asn) | |
| 9 | g.137762757G= | CA1884659581 | EHMT1 | c.1584G= (p.Lys528=) c.1470G= (p.Lys490=) c.1491G= (p.Lys497=) c.1624G= (n.1624G=) c.1529G= c.1211G= c.753G= (p.Lys251=) c.*1319G= (n.*1319G=) c.441G= (p.Lys147=) c.276G= (p.Lys92=) c.677G= c.1575G= (p.Lys525=) c.1566G= (p.Lys522=) c.1593G= (p.Lys531=) c.1590G= (p.Lys530=) c.1572G= (p.Lys524=) c.1515G= (p.Lys505=) c.15G= (p.Lys5=) c.1563G= (p.Lys521=) c.1569G= (p.Lys523=) c.1485G= (p.Lys495=) c.1413G= (p.Lys471=) c.708G= (p.Lys236=) | |
| 9 | g.137762757G>T | CA375769317 | EHMT1 | c.1584G>T (p.Lys528Asn) c.1470G>T (p.Lys490Asn) c.1491G>T (p.Lys497Asn) c.1624G>T (n.1624G>T) c.1529G>T c.1211G>T c.753G>T (p.Lys251Asn) c.*1319G>T (n.*1319G>T) c.441G>T (p.Lys147Asn) c.276G>T (p.Lys92Asn) c.677G>T c.1575G>T (p.Lys525Asn) c.1566G>T (p.Lys522Asn) c.1593G>T (p.Lys531Asn) c.1590G>T (p.Lys530Asn) c.1572G>T (p.Lys524Asn) c.1515G>T (p.Lys505Asn) c.15G>T (p.Lys5Asn) c.1563G>T (p.Lys521Asn) c.1569G>T (p.Lys523Asn) c.1485G>T (p.Lys495Asn) c.1413G>T (p.Lys471Asn) c.708G>T (p.Lys236Asn) | |
| 9 | g.137762758del | CA2695211833 | EHMT1 | c.1585del (p.Ser529ValfsTer?) c.1585del (p.Ser529ValfsTer22) c.1471del (p.Ser491ValfsTer?) c.1492del (p.Ser498ValfsTer?) c.1625del (n.1625del) c.1530del c.1212del c.754del (p.Ser252ValfsTer?) c.*1320del (n.*1320del) c.442del (p.Ser148ValfsTer?) c.277del (p.Ser93ValfsTer?) c.678del c.1576del (p.Ser526ValfsTer?) c.1567del (p.Ser523ValfsTer?) c.1594del (p.Ser532ValfsTer?) c.1591del (p.Ser531ValfsTer?) c.1573del (p.Ser525ValfsTer?) c.1516del (p.Ser506ValfsTer?) c.16del (p.Ser6ValfsTer?) c.1564del (p.Ser522ValfsTer?) c.1492del (p.Ser498ValfsTer22) c.1570del (p.Ser524ValfsTer?) c.1486del (p.Ser496ValfsTer?) c.1414del (p.Ser472ValfsTer?) c.709del (p.Ser237ValfsTer?) | |
| 9 | g.137762758A= | CA1884659582 | EHMT1 | c.1585A= (p.Ser529=) c.1471A= (p.Ser491=) c.1492A= (p.Ser498=) c.1625A= (n.1625A=) c.1530A= c.1212A= c.754A= (p.Ser252=) c.*1320A= (n.*1320A=) c.442A= (p.Ser148=) c.277A= (p.Ser93=) c.678A= c.1576A= (p.Ser526=) c.1567A= (p.Ser523=) c.1594A= (p.Ser532=) c.1591A= (p.Ser531=) c.1573A= (p.Ser525=) c.1516A= (p.Ser506=) c.16A= (p.Ser6=) c.1564A= (p.Ser522=) c.1570A= (p.Ser524=) c.1486A= (p.Ser496=) c.1414A= (p.Ser472=) c.709A= (p.Ser237=) | |
| 9 | g.137762758A>C | CA375769321 | EHMT1 | c.1585A>C (p.Ser529Arg) c.1471A>C (p.Ser491Arg) c.1492A>C (p.Ser498Arg) c.1625A>C (n.1625A>C) c.1530A>C c.1212A>C c.754A>C (p.Ser252Arg) c.*1320A>C (n.*1320A>C) c.442A>C (p.Ser148Arg) c.277A>C (p.Ser93Arg) c.678A>C c.1576A>C (p.Ser526Arg) c.1567A>C (p.Ser523Arg) c.1594A>C (p.Ser532Arg) c.1591A>C (p.Ser531Arg) c.1573A>C (p.Ser525Arg) c.1516A>C (p.Ser506Arg) c.16A>C (p.Ser6Arg) c.1564A>C (p.Ser522Arg) c.1570A>C (p.Ser524Arg) c.1486A>C (p.Ser496Arg) c.1414A>C (p.Ser472Arg) c.709A>C (p.Ser237Arg) | |
| 9 | g.137762758A>G | CA5374670 | EHMT1 | c.1585A>G (p.Ser529Gly) c.1471A>G (p.Ser491Gly) c.1492A>G (p.Ser498Gly) c.1625A>G (n.1625A>G) c.1530A>G c.1212A>G c.754A>G (p.Ser252Gly) c.*1320A>G (n.*1320A>G) c.442A>G (p.Ser148Gly) c.277A>G (p.Ser93Gly) c.678A>G c.1576A>G (p.Ser526Gly) c.1567A>G (p.Ser523Gly) c.1594A>G (p.Ser532Gly) c.1591A>G (p.Ser531Gly) c.1573A>G (p.Ser525Gly) c.1516A>G (p.Ser506Gly) c.16A>G (p.Ser6Gly) c.1564A>G (p.Ser522Gly) c.1570A>G (p.Ser524Gly) c.1486A>G (p.Ser496Gly) c.1414A>G (p.Ser472Gly) c.709A>G (p.Ser237Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137762758A>T | CA375769323 | EHMT1 | c.1585A>T (p.Ser529Cys) c.1471A>T (p.Ser491Cys) c.1492A>T (p.Ser498Cys) c.1625A>T (n.1625A>T) c.1530A>T c.1212A>T c.754A>T (p.Ser252Cys) c.*1320A>T (n.*1320A>T) c.442A>T (p.Ser148Cys) c.277A>T (p.Ser93Cys) c.678A>T c.1576A>T (p.Ser526Cys) c.1567A>T (p.Ser523Cys) c.1594A>T (p.Ser532Cys) c.1591A>T (p.Ser531Cys) c.1573A>T (p.Ser525Cys) c.1516A>T (p.Ser506Cys) c.16A>T (p.Ser6Cys) c.1564A>T (p.Ser522Cys) c.1570A>T (p.Ser524Cys) c.1486A>T (p.Ser496Cys) c.1414A>T (p.Ser472Cys) c.709A>T (p.Ser237Cys) | |
| 9 | g.137762759G>A | CA375769327 | EHMT1 | c.1586G>A (p.Ser529Asn) c.1472G>A (p.Ser491Asn) c.1493G>A (p.Ser498Asn) c.1626G>A (n.1626G>A) c.1531G>A c.1213G>A c.755G>A (p.Ser252Asn) c.*1321G>A (n.*1321G>A) c.443G>A (p.Ser148Asn) c.278G>A (p.Ser93Asn) c.679G>A c.1577G>A (p.Ser526Asn) c.1568G>A (p.Ser523Asn) c.1595G>A (p.Ser532Asn) c.1592G>A (p.Ser531Asn) c.1574G>A (p.Ser525Asn) c.1517G>A (p.Ser506Asn) c.17G>A (p.Ser6Asn) c.1565G>A (p.Ser522Asn) c.1571G>A (p.Ser524Asn) c.1487G>A (p.Ser496Asn) c.1415G>A (p.Ser472Asn) c.710G>A (p.Ser237Asn) | |
| 9 | g.137762759G>C | CA375769329 | EHMT1 | c.1586G>C (p.Ser529Thr) c.1472G>C (p.Ser491Thr) c.1493G>C (p.Ser498Thr) c.1626G>C (n.1626G>C) c.1531G>C c.1213G>C c.755G>C (p.Ser252Thr) c.*1321G>C (n.*1321G>C) c.443G>C (p.Ser148Thr) c.278G>C (p.Ser93Thr) c.679G>C c.1577G>C (p.Ser526Thr) c.1568G>C (p.Ser523Thr) c.1595G>C (p.Ser532Thr) c.1592G>C (p.Ser531Thr) c.1574G>C (p.Ser525Thr) c.1517G>C (p.Ser506Thr) c.17G>C (p.Ser6Thr) c.1565G>C (p.Ser522Thr) c.1571G>C (p.Ser524Thr) c.1487G>C (p.Ser496Thr) c.1415G>C (p.Ser472Thr) c.710G>C (p.Ser237Thr) | |
| 9 | g.137762759G= | CA1884659583 | EHMT1 | c.1586G= (p.Ser529=) c.1472G= (p.Ser491=) c.1493G= (p.Ser498=) c.1626G= (n.1626G=) c.1531G= c.1213G= c.755G= (p.Ser252=) c.*1321G= (n.*1321G=) c.443G= (p.Ser148=) c.278G= (p.Ser93=) c.679G= c.1577G= (p.Ser526=) c.1568G= (p.Ser523=) c.1595G= (p.Ser532=) c.1592G= (p.Ser531=) c.1574G= (p.Ser525=) c.1517G= (p.Ser506=) c.17G= (p.Ser6=) c.1565G= (p.Ser522=) c.1571G= (p.Ser524=) c.1487G= (p.Ser496=) c.1415G= (p.Ser472=) c.710G= (p.Ser237=) | |
| 9 | g.137762759G>T | CA375769335 | EHMT1 | c.1586G>T (p.Ser529Ile) c.1472G>T (p.Ser491Ile) c.1493G>T (p.Ser498Ile) c.1626G>T (n.1626G>T) c.1531G>T c.1213G>T c.755G>T (p.Ser252Ile) c.*1321G>T (n.*1321G>T) c.443G>T (p.Ser148Ile) c.278G>T (p.Ser93Ile) c.679G>T c.1577G>T (p.Ser526Ile) c.1568G>T (p.Ser523Ile) c.1595G>T (p.Ser532Ile) c.1592G>T (p.Ser531Ile) c.1574G>T (p.Ser525Ile) c.1517G>T (p.Ser506Ile) c.17G>T (p.Ser6Ile) c.1565G>T (p.Ser522Ile) c.1571G>T (p.Ser524Ile) c.1487G>T (p.Ser496Ile) c.1415G>T (p.Ser472Ile) c.710G>T (p.Ser237Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137762760T>A | CA375769338 | EHMT1 | c.1587T>A (p.Ser529Arg) c.1473T>A (p.Ser491Arg) c.1494T>A (p.Ser498Arg) c.1627T>A (n.1627T>A) c.1532T>A c.1214T>A c.756T>A (p.Ser252Arg) c.*1322T>A (n.*1322T>A) c.444T>A (p.Ser148Arg) c.279T>A (p.Ser93Arg) c.680T>A c.1578T>A (p.Ser526Arg) c.1569T>A (p.Ser523Arg) c.1596T>A (p.Ser532Arg) c.1593T>A (p.Ser531Arg) c.1575T>A (p.Ser525Arg) c.1518T>A (p.Ser506Arg) c.18T>A (p.Ser6Arg) c.1566T>A (p.Ser522Arg) c.1572T>A (p.Ser524Arg) c.1488T>A (p.Ser496Arg) c.1416T>A (p.Ser472Arg) c.711T>A (p.Ser237Arg) | |
| 9 | g.137762760T>C | CA467873898 | EHMT1 | c.1587T>C (p.Ser529=) c.1473T>C (p.Ser491=) c.1494T>C (p.Ser498=) c.1627T>C (n.1627T>C) c.1532T>C c.1214T>C c.756T>C (p.Ser252=) c.*1322T>C (n.*1322T>C) c.444T>C (p.Ser148=) c.279T>C (p.Ser93=) c.680T>C c.1578T>C (p.Ser526=) c.1569T>C (p.Ser523=) c.1596T>C (p.Ser532=) c.1593T>C (p.Ser531=) c.1575T>C (p.Ser525=) c.1518T>C (p.Ser506=) c.18T>C (p.Ser6=) c.1566T>C (p.Ser522=) c.1572T>C (p.Ser524=) c.1488T>C (p.Ser496=) c.1416T>C (p.Ser472=) c.711T>C (p.Ser237=) | |
| 9 | g.137762760T>G | CA375769342 | EHMT1 | c.1587T>G (p.Ser529Arg) c.1473T>G (p.Ser491Arg) c.1494T>G (p.Ser498Arg) c.1627T>G (n.1627T>G) c.1532T>G c.1214T>G c.756T>G (p.Ser252Arg) c.*1322T>G (n.*1322T>G) c.444T>G (p.Ser148Arg) c.279T>G (p.Ser93Arg) c.680T>G c.1578T>G (p.Ser526Arg) c.1569T>G (p.Ser523Arg) c.1596T>G (p.Ser532Arg) c.1593T>G (p.Ser531Arg) c.1575T>G (p.Ser525Arg) c.1518T>G (p.Ser506Arg) c.18T>G (p.Ser6Arg) c.1566T>G (p.Ser522Arg) c.1572T>G (p.Ser524Arg) c.1488T>G (p.Ser496Arg) c.1416T>G (p.Ser472Arg) c.711T>G (p.Ser237Arg) | |
| 9 | g.137762761C>A | CA467873899 | EHMT1 | c.1588C>A (p.Arg530=) c.1474C>A (p.Arg492=) c.1495C>A (p.Arg499=) c.1628C>A (n.1628C>A) c.1533C>A c.1215C>A c.757C>A (p.Arg253=) c.*1323C>A (n.*1323C>A) c.445C>A (p.Arg149=) c.280C>A (p.Arg94=) c.681C>A c.1579C>A (p.Arg527=) c.1570C>A (p.Arg524=) c.1597C>A (p.Arg533=) c.1594C>A (p.Arg532=) c.1576C>A (p.Arg526=) c.1519C>A (p.Arg507=) c.19C>A (p.Arg7=) c.1567C>A (p.Arg523=) c.1573C>A (p.Arg525=) c.1489C>A (p.Arg497=) c.1417C>A (p.Arg473=) c.712C>A (p.Arg238=) | |
| 9 | g.137762761C= | CA1884659584 | EHMT1 | c.1588C= (p.Arg530=) c.1474C= (p.Arg492=) c.1495C= (p.Arg499=) c.1628C= (n.1628C=) c.1533C= c.1215C= c.757C= (p.Arg253=) c.*1323C= (n.*1323C=) c.445C= (p.Arg149=) c.280C= (p.Arg94=) c.681C= c.1579C= (p.Arg527=) c.1570C= (p.Arg524=) c.1597C= (p.Arg533=) c.1594C= (p.Arg532=) c.1576C= (p.Arg526=) c.1519C= (p.Arg507=) c.19C= (p.Arg7=) c.1567C= (p.Arg523=) c.1573C= (p.Arg525=) c.1489C= (p.Arg497=) c.1417C= (p.Arg473=) c.712C= (p.Arg238=) | |
| 9 | g.137762761C>G | CA375769347 | EHMT1 | c.1588C>G (p.Arg530Gly) c.1474C>G (p.Arg492Gly) c.1495C>G (p.Arg499Gly) c.1628C>G (n.1628C>G) c.1533C>G c.1215C>G c.757C>G (p.Arg253Gly) c.*1323C>G (n.*1323C>G) c.445C>G (p.Arg149Gly) c.280C>G (p.Arg94Gly) c.681C>G c.1579C>G (p.Arg527Gly) c.1570C>G (p.Arg524Gly) c.1597C>G (p.Arg533Gly) c.1594C>G (p.Arg532Gly) c.1576C>G (p.Arg526Gly) c.1519C>G (p.Arg507Gly) c.19C>G (p.Arg7Gly) c.1567C>G (p.Arg523Gly) c.1573C>G (p.Arg525Gly) c.1489C>G (p.Arg497Gly) c.1417C>G (p.Arg473Gly) c.712C>G (p.Arg238Gly) | |
| 9 | g.137762761C>T | CA375769349 | EHMT1 | c.1588C>T (p.Arg530Ter) c.1474C>T (p.Arg492Ter) c.1495C>T (p.Arg499Ter) c.1628C>T (n.1628C>T) c.1533C>T c.1215C>T c.757C>T (p.Arg253Ter) c.*1323C>T (n.*1323C>T) c.445C>T (p.Arg149Ter) c.280C>T (p.Arg94Ter) c.681C>T c.1579C>T (p.Arg527Ter) c.1570C>T (p.Arg524Ter) c.1597C>T (p.Arg533Ter) c.1594C>T (p.Arg532Ter) c.1576C>T (p.Arg526Ter) c.1519C>T (p.Arg507Ter) c.19C>T (p.Arg7Ter) c.1567C>T (p.Arg523Ter) c.1573C>T (p.Arg525Ter) c.1489C>T (p.Arg497Ter) c.1417C>T (p.Arg473Ter) c.712C>T (p.Arg238Ter) | ClinVar dbSNP |
| 9 | g.137762762G>A | CA201792953 | EHMT1 | c.1589G>A (p.Arg530Gln) c.1475G>A (p.Arg492Gln) c.1496G>A (p.Arg499Gln) c.1629G>A (n.1629G>A) c.1534G>A c.1216G>A c.758G>A (p.Arg253Gln) c.*1324G>A (n.*1324G>A) c.446G>A (p.Arg149Gln) c.281G>A (p.Arg94Gln) c.682G>A c.1580G>A (p.Arg527Gln) c.1571G>A (p.Arg524Gln) c.1598G>A (p.Arg533Gln) c.1595G>A (p.Arg532Gln) c.1577G>A (p.Arg526Gln) c.1520G>A (p.Arg507Gln) c.20G>A (p.Arg7Gln) c.1568G>A (p.Arg523Gln) c.1574G>A (p.Arg525Gln) c.1490G>A (p.Arg497Gln) c.1418G>A (p.Arg473Gln) c.713G>A (p.Arg238Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137762762G>C | CA375769357 | EHMT1 | c.1589G>C (p.Arg530Pro) c.1475G>C (p.Arg492Pro) c.1496G>C (p.Arg499Pro) c.1629G>C (n.1629G>C) c.1534G>C c.1216G>C c.758G>C (p.Arg253Pro) c.*1324G>C (n.*1324G>C) c.446G>C (p.Arg149Pro) c.281G>C (p.Arg94Pro) c.682G>C c.1580G>C (p.Arg527Pro) c.1571G>C (p.Arg524Pro) c.1598G>C (p.Arg533Pro) c.1595G>C (p.Arg532Pro) c.1577G>C (p.Arg526Pro) c.1520G>C (p.Arg507Pro) c.20G>C (p.Arg7Pro) c.1568G>C (p.Arg523Pro) c.1574G>C (p.Arg525Pro) c.1490G>C (p.Arg497Pro) c.1418G>C (p.Arg473Pro) c.713G>C (p.Arg238Pro) | |
| 9 | g.137762762G= | CA1884659585 | EHMT1 | c.1589G= (p.Arg530=) c.1475G= (p.Arg492=) c.1496G= (p.Arg499=) c.1629G= (n.1629G=) c.1534G= c.1216G= c.758G= (p.Arg253=) c.*1324G= (n.*1324G=) c.446G= (p.Arg149=) c.281G= (p.Arg94=) c.682G= c.1580G= (p.Arg527=) c.1571G= (p.Arg524=) c.1598G= (p.Arg533=) c.1595G= (p.Arg532=) c.1577G= (p.Arg526=) c.1520G= (p.Arg507=) c.20G= (p.Arg7=) c.1568G= (p.Arg523=) c.1574G= (p.Arg525=) c.1490G= (p.Arg497=) c.1418G= (p.Arg473=) c.713G= (p.Arg238=) | |
| 9 | g.137762762G>T | CA375769362 | EHMT1 | c.1589G>T (p.Arg530Leu) c.1475G>T (p.Arg492Leu) c.1496G>T (p.Arg499Leu) c.1629G>T (n.1629G>T) c.1534G>T c.1216G>T c.758G>T (p.Arg253Leu) c.*1324G>T (n.*1324G>T) c.446G>T (p.Arg149Leu) c.281G>T (p.Arg94Leu) c.682G>T c.1580G>T (p.Arg527Leu) c.1571G>T (p.Arg524Leu) c.1598G>T (p.Arg533Leu) c.1595G>T (p.Arg532Leu) c.1577G>T (p.Arg526Leu) c.1520G>T (p.Arg507Leu) c.20G>T (p.Arg7Leu) c.1568G>T (p.Arg523Leu) c.1574G>T (p.Arg525Leu) c.1490G>T (p.Arg497Leu) c.1418G>T (p.Arg473Leu) c.713G>T (p.Arg238Leu) | |
| 9 | g.137762763A= | CA1884659586 | EHMT1 | c.1590A= (p.Arg530=) c.1476A= (p.Arg492=) c.1497A= (p.Arg499=) c.1630A= (n.1630A=) c.1535A= c.1217A= c.759A= (p.Arg253=) c.*1325A= (n.*1325A=) c.447A= (p.Arg149=) c.282A= (p.Arg94=) c.683A= c.1581A= (p.Arg527=) c.1572A= (p.Arg524=) c.1599A= (p.Arg533=) c.1596A= (p.Arg532=) c.1578A= (p.Arg526=) c.1521A= (p.Arg507=) c.21A= (p.Arg7=) c.1569A= (p.Arg523=) c.1575A= (p.Arg525=) c.1491A= (p.Arg497=) c.1419A= (p.Arg473=) c.714A= (p.Arg238=) | |
| 9 | g.137762763A>C | CA467873900 | EHMT1 | c.1590A>C (p.Arg530=) c.1476A>C (p.Arg492=) c.1497A>C (p.Arg499=) c.1630A>C (n.1630A>C) c.1535A>C c.1217A>C c.759A>C (p.Arg253=) c.*1325A>C (n.*1325A>C) c.447A>C (p.Arg149=) c.282A>C (p.Arg94=) c.683A>C c.1581A>C (p.Arg527=) c.1572A>C (p.Arg524=) c.1599A>C (p.Arg533=) c.1596A>C (p.Arg532=) c.1578A>C (p.Arg526=) c.1521A>C (p.Arg507=) c.21A>C (p.Arg7=) c.1569A>C (p.Arg523=) c.1575A>C (p.Arg525=) c.1491A>C (p.Arg497=) c.1419A>C (p.Arg473=) c.714A>C (p.Arg238=) | |
| 9 | g.137762763A>G | CA467873901 | EHMT1 | c.1590A>G (p.Arg530=) c.1476A>G (p.Arg492=) c.1497A>G (p.Arg499=) c.1630A>G (n.1630A>G) c.1535A>G c.1217A>G c.759A>G (p.Arg253=) c.*1325A>G (n.*1325A>G) c.447A>G (p.Arg149=) c.282A>G (p.Arg94=) c.683A>G c.1581A>G (p.Arg527=) c.1572A>G (p.Arg524=) c.1599A>G (p.Arg533=) c.1596A>G (p.Arg532=) c.1578A>G (p.Arg526=) c.1521A>G (p.Arg507=) c.21A>G (p.Arg7=) c.1569A>G (p.Arg523=) c.1575A>G (p.Arg525=) c.1491A>G (p.Arg497=) c.1419A>G (p.Arg473=) c.714A>G (p.Arg238=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137762763A>T | CA467873902 | EHMT1 | c.1590A>T (p.Arg530=) c.1476A>T (p.Arg492=) c.1497A>T (p.Arg499=) c.1630A>T (n.1630A>T) c.1535A>T c.1217A>T c.759A>T (p.Arg253=) c.*1325A>T (n.*1325A>T) c.447A>T (p.Arg149=) c.282A>T (p.Arg94=) c.683A>T c.1581A>T (p.Arg527=) c.1572A>T (p.Arg524=) c.1599A>T (p.Arg533=) c.1596A>T (p.Arg532=) c.1578A>T (p.Arg526=) c.1521A>T (p.Arg507=) c.21A>T (p.Arg7=) c.1569A>T (p.Arg523=) c.1575A>T (p.Arg525=) c.1491A>T (p.Arg497=) c.1419A>T (p.Arg473=) c.714A>T (p.Arg238=) | |
| 9 | g.137762763_137762780dup | CA916083098 | EHMT1 | c.1590_1607dup (p.Ala536_Asn537insGluIleThrThrLeuAla) c.1476_1493dup (p.Ala498_Asn499insGluIleThrThrLeuAla) c.1497_1514dup (p.Ala505_Asn506insGluIleThrThrLeuAla) c.1630_1647dup (n.1630_1647dup) c.1535_1552dup c.1217_1234dup c.759_776dup (p.Ala259_Asn260insGluIleThrThrLeuAla) c.*1325_*1342dup (n.*1325_*1342dup) c.447_464dup (p.Ala155_Asn156insGluIleThrThrLeuAla) c.282_299dup (p.Ala100_Asn101insGluIleThrThrLeuAla) c.1581_1598dup (p.Ala533_Asn534insGluIleThrThrLeuAla) c.1572_1589dup (p.Ala530_Asn531insGluIleThrThrLeuAla) c.1599_1616dup (p.Ala539_Asn540insGluIleThrThrLeuAla) c.1596_1613dup (p.Ala538_Asn539insGluIleThrThrLeuAla) c.1578_1595dup (p.Ala532_Asn533insGluIleThrThrLeuAla) c.1521_1538dup (p.Ala513_Asn514insGluIleThrThrLeuAla) c.21_38dup (p.Ala13_Asn14insGluIleThrThrLeuAla) c.1569_1586dup (p.Ala529_Asn530insGluIleThrThrLeuAla) c.1575_1592dup (p.Ala531_Asn532insGluIleThrThrLeuAla) c.1491_1508dup (p.Ala503_Asn504insGluIleThrThrLeuAla) c.1419_1436dup (p.Ala479_Asn480insGluIleThrThrLeuAla) c.714_731dup (p.Ala244_Asn245insGluIleThrThrLeuAla) | ClinVar dbSNP |
| 9 | g.137762764G>A | CA375769367 | EHMT1 | c.1591G>A (p.Glu531Lys) c.1477G>A (p.Glu493Lys) c.1498G>A (p.Glu500Lys) c.1631G>A (n.1631G>A) c.1536G>A c.1218G>A c.760G>A (p.Glu254Lys) c.*1326G>A (n.*1326G>A) c.448G>A (p.Glu150Lys) c.283G>A (p.Glu95Lys) c.684G>A c.1582G>A (p.Glu528Lys) c.1573G>A (p.Glu525Lys) c.1600G>A (p.Glu534Lys) c.1597G>A (p.Glu533Lys) c.1579G>A (p.Glu527Lys) c.1522G>A (p.Glu508Lys) c.22G>A (p.Glu8Lys) c.1570G>A (p.Glu524Lys) c.1576G>A (p.Glu526Lys) c.1492G>A (p.Glu498Lys) c.1420G>A (p.Glu474Lys) c.715G>A (p.Glu239Lys) | |
| 9 | g.137762764G>C | CA375769381 | EHMT1 | c.1591G>C (p.Glu531Gln) c.1477G>C (p.Glu493Gln) c.1498G>C (p.Glu500Gln) c.1631G>C (n.1631G>C) c.1536G>C c.1218G>C c.760G>C (p.Glu254Gln) c.*1326G>C (n.*1326G>C) c.448G>C (p.Glu150Gln) c.283G>C (p.Glu95Gln) c.684G>C c.1582G>C (p.Glu528Gln) c.1573G>C (p.Glu525Gln) c.1600G>C (p.Glu534Gln) c.1597G>C (p.Glu533Gln) c.1579G>C (p.Glu527Gln) c.1522G>C (p.Glu508Gln) c.22G>C (p.Glu8Gln) c.1570G>C (p.Glu524Gln) c.1576G>C (p.Glu526Gln) c.1492G>C (p.Glu498Gln) c.1420G>C (p.Glu474Gln) c.715G>C (p.Glu239Gln) | |
| 9 | g.137762764G>T | CA375769386 | EHMT1 | c.1591G>T (p.Glu531Ter) c.1477G>T (p.Glu493Ter) c.1498G>T (p.Glu500Ter) c.1631G>T (n.1631G>T) c.1536G>T c.1218G>T c.760G>T (p.Glu254Ter) c.*1326G>T (n.*1326G>T) c.448G>T (p.Glu150Ter) c.283G>T (p.Glu95Ter) c.684G>T c.1582G>T (p.Glu528Ter) c.1573G>T (p.Glu525Ter) c.1600G>T (p.Glu534Ter) c.1597G>T (p.Glu533Ter) c.1579G>T (p.Glu527Ter) c.1522G>T (p.Glu508Ter) c.22G>T (p.Glu8Ter) c.1570G>T (p.Glu524Ter) c.1576G>T (p.Glu526Ter) c.1492G>T (p.Glu498Ter) c.1420G>T (p.Glu474Ter) c.715G>T (p.Glu239Ter) | |
| 9 | g.137762765A= | CA1884659587 | EHMT1 | c.1592A= (p.Glu531=) c.1478A= (p.Glu493=) c.1499A= (p.Glu500=) c.1632A= (n.1632A=) c.1537A= c.1219A= c.761A= (p.Glu254=) c.*1327A= (n.*1327A=) c.449A= (p.Glu150=) c.284A= (p.Glu95=) c.685A= c.1583A= (p.Glu528=) c.1574A= (p.Glu525=) c.1601A= (p.Glu534=) c.1598A= (p.Glu533=) c.1580A= (p.Glu527=) c.1523A= (p.Glu508=) c.23A= (p.Glu8=) c.1571A= (p.Glu524=) c.1577A= (p.Glu526=) c.1493A= (p.Glu498=) c.1421A= (p.Glu474=) c.716A= (p.Glu239=) | |
| 9 | g.137762765A>C | CA5374671 | EHMT1 | c.1592A>C (p.Glu531Ala) c.1478A>C (p.Glu493Ala) c.1499A>C (p.Glu500Ala) c.1632A>C (n.1632A>C) c.1537A>C c.1219A>C c.761A>C (p.Glu254Ala) c.*1327A>C (n.*1327A>C) c.449A>C (p.Glu150Ala) c.284A>C (p.Glu95Ala) c.685A>C c.1583A>C (p.Glu528Ala) c.1574A>C (p.Glu525Ala) c.1601A>C (p.Glu534Ala) c.1598A>C (p.Glu533Ala) c.1580A>C (p.Glu527Ala) c.1523A>C (p.Glu508Ala) c.23A>C (p.Glu8Ala) c.1571A>C (p.Glu524Ala) c.1577A>C (p.Glu526Ala) c.1493A>C (p.Glu498Ala) c.1421A>C (p.Glu474Ala) c.716A>C (p.Glu239Ala) | dbSNP ExAC gnomAD v2 |
| 9 | g.137762765A>G | CA375769396 | EHMT1 | c.1592A>G (p.Glu531Gly) c.1478A>G (p.Glu493Gly) c.1499A>G (p.Glu500Gly) c.1632A>G (n.1632A>G) c.1537A>G c.1219A>G c.761A>G (p.Glu254Gly) c.*1327A>G (n.*1327A>G) c.449A>G (p.Glu150Gly) c.284A>G (p.Glu95Gly) c.685A>G c.1583A>G (p.Glu528Gly) c.1574A>G (p.Glu525Gly) c.1601A>G (p.Glu534Gly) c.1598A>G (p.Glu533Gly) c.1580A>G (p.Glu527Gly) c.1523A>G (p.Glu508Gly) c.23A>G (p.Glu8Gly) c.1571A>G (p.Glu524Gly) c.1577A>G (p.Glu526Gly) c.1493A>G (p.Glu498Gly) c.1421A>G (p.Glu474Gly) c.716A>G (p.Glu239Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137762765A>T | CA375769398 | EHMT1 | c.1592A>T (p.Glu531Val) c.1478A>T (p.Glu493Val) c.1499A>T (p.Glu500Val) c.1632A>T (n.1632A>T) c.1537A>T c.1219A>T c.761A>T (p.Glu254Val) c.*1327A>T (n.*1327A>T) c.449A>T (p.Glu150Val) c.284A>T (p.Glu95Val) c.685A>T c.1583A>T (p.Glu528Val) c.1574A>T (p.Glu525Val) c.1601A>T (p.Glu534Val) c.1598A>T (p.Glu533Val) c.1580A>T (p.Glu527Val) c.1523A>T (p.Glu508Val) c.23A>T (p.Glu8Val) c.1571A>T (p.Glu524Val) c.1577A>T (p.Glu526Val) c.1493A>T (p.Glu498Val) c.1421A>T (p.Glu474Val) c.716A>T (p.Glu239Val) | |
| 9 | g.137762766G>A | CA467873903 | EHMT1 | c.1593G>A (p.Glu531=) c.1479G>A (p.Glu493=) c.1500G>A (p.Glu500=) c.1633G>A (n.1633G>A) c.1538G>A c.1220G>A c.762G>A (p.Glu254=) c.*1328G>A (n.*1328G>A) c.450G>A (p.Glu150=) c.285G>A (p.Glu95=) c.686G>A c.1584G>A (p.Glu528=) c.1575G>A (p.Glu525=) c.1602G>A (p.Glu534=) c.1599G>A (p.Glu533=) c.1581G>A (p.Glu527=) c.1524G>A (p.Glu508=) c.24G>A (p.Glu8=) c.1572G>A (p.Glu524=) c.1578G>A (p.Glu526=) c.1494G>A (p.Glu498=) c.1422G>A (p.Glu474=) c.717G>A (p.Glu239=) | |
| 9 | g.137762766G>C | CA375769399 | EHMT1 | c.1593G>C (p.Glu531Asp) c.1479G>C (p.Glu493Asp) c.1500G>C (p.Glu500Asp) c.1633G>C (n.1633G>C) c.1538G>C c.1220G>C c.762G>C (p.Glu254Asp) c.*1328G>C (n.*1328G>C) c.450G>C (p.Glu150Asp) c.285G>C (p.Glu95Asp) c.686G>C c.1584G>C (p.Glu528Asp) c.1575G>C (p.Glu525Asp) c.1602G>C (p.Glu534Asp) c.1599G>C (p.Glu533Asp) c.1581G>C (p.Glu527Asp) c.1524G>C (p.Glu508Asp) c.24G>C (p.Glu8Asp) c.1572G>C (p.Glu524Asp) c.1578G>C (p.Glu526Asp) c.1494G>C (p.Glu498Asp) c.1422G>C (p.Glu474Asp) c.717G>C (p.Glu239Asp) | |
| 9 | g.137762766G>T | CA375769401 | EHMT1 | c.1593G>T (p.Glu531Asp) c.1479G>T (p.Glu493Asp) c.1500G>T (p.Glu500Asp) c.1633G>T (n.1633G>T) c.1538G>T c.1220G>T c.762G>T (p.Glu254Asp) c.*1328G>T (n.*1328G>T) c.450G>T (p.Glu150Asp) c.285G>T (p.Glu95Asp) c.686G>T c.1584G>T (p.Glu528Asp) c.1575G>T (p.Glu525Asp) c.1602G>T (p.Glu534Asp) c.1599G>T (p.Glu533Asp) c.1581G>T (p.Glu527Asp) c.1524G>T (p.Glu508Asp) c.24G>T (p.Glu8Asp) c.1572G>T (p.Glu524Asp) c.1578G>T (p.Glu526Asp) c.1494G>T (p.Glu498Asp) c.1422G>T (p.Glu474Asp) c.717G>T (p.Glu239Asp) | |
| 9 | g.137762767A>C | CA375769405 | EHMT1 | c.1594A>C (p.Ile532Leu) c.1480A>C (p.Ile494Leu) c.1501A>C (p.Ile501Leu) c.1634A>C (n.1634A>C) c.1539A>C c.1221A>C c.763A>C (p.Ile255Leu) c.*1329A>C (n.*1329A>C) c.451A>C (p.Ile151Leu) c.286A>C (p.Ile96Leu) c.687A>C c.1585A>C (p.Ile529Leu) c.1576A>C (p.Ile526Leu) c.1603A>C (p.Ile535Leu) c.1600A>C (p.Ile534Leu) c.1582A>C (p.Ile528Leu) c.1525A>C (p.Ile509Leu) c.25A>C (p.Ile9Leu) c.1573A>C (p.Ile525Leu) c.1579A>C (p.Ile527Leu) c.1495A>C (p.Ile499Leu) c.1423A>C (p.Ile475Leu) c.718A>C (p.Ile240Leu) | |
| 9 | g.137762767A>G | CA375769411 | EHMT1 | c.1594A>G (p.Ile532Val) c.1480A>G (p.Ile494Val) c.1501A>G (p.Ile501Val) c.1634A>G (n.1634A>G) c.1539A>G c.1221A>G c.763A>G (p.Ile255Val) c.*1329A>G (n.*1329A>G) c.451A>G (p.Ile151Val) c.286A>G (p.Ile96Val) c.687A>G c.1585A>G (p.Ile529Val) c.1576A>G (p.Ile526Val) c.1603A>G (p.Ile535Val) c.1600A>G (p.Ile534Val) c.1582A>G (p.Ile528Val) c.1525A>G (p.Ile509Val) c.25A>G (p.Ile9Val) c.1573A>G (p.Ile525Val) c.1579A>G (p.Ile527Val) c.1495A>G (p.Ile499Val) c.1423A>G (p.Ile475Val) c.718A>G (p.Ile240Val) | gnomAD v4 |
| 9 | g.137762767A>T | CA375769409 | EHMT1 | c.1594A>T (p.Ile532Phe) c.1480A>T (p.Ile494Phe) c.1501A>T (p.Ile501Phe) c.1634A>T (n.1634A>T) c.1539A>T c.1221A>T c.763A>T (p.Ile255Phe) c.*1329A>T (n.*1329A>T) c.451A>T (p.Ile151Phe) c.286A>T (p.Ile96Phe) c.687A>T c.1585A>T (p.Ile529Phe) c.1576A>T (p.Ile526Phe) c.1603A>T (p.Ile535Phe) c.1600A>T (p.Ile534Phe) c.1582A>T (p.Ile528Phe) c.1525A>T (p.Ile509Phe) c.25A>T (p.Ile9Phe) c.1573A>T (p.Ile525Phe) c.1579A>T (p.Ile527Phe) c.1495A>T (p.Ile499Phe) c.1423A>T (p.Ile475Phe) c.718A>T (p.Ile240Phe) | |
| 9 | g.137762768T>A | CA375769415 | EHMT1 | c.1595T>A (p.Ile532Asn) c.1481T>A (p.Ile494Asn) c.1502T>A (p.Ile501Asn) c.1635T>A (n.1635T>A) c.1540T>A c.1222T>A c.764T>A (p.Ile255Asn) c.*1330T>A (n.*1330T>A) c.452T>A (p.Ile151Asn) c.287T>A (p.Ile96Asn) c.688T>A c.1586T>A (p.Ile529Asn) c.1577T>A (p.Ile526Asn) c.1604T>A (p.Ile535Asn) c.1601T>A (p.Ile534Asn) c.1583T>A (p.Ile528Asn) c.1526T>A (p.Ile509Asn) c.26T>A (p.Ile9Asn) c.1574T>A (p.Ile525Asn) c.1580T>A (p.Ile527Asn) c.1496T>A (p.Ile499Asn) c.1424T>A (p.Ile475Asn) c.719T>A (p.Ile240Asn) | |
| 9 | g.137762768T>C | CA375769419 | EHMT1 | c.1595T>C (p.Ile532Thr) c.1481T>C (p.Ile494Thr) c.1502T>C (p.Ile501Thr) c.1635T>C (n.1635T>C) c.1540T>C c.1222T>C c.764T>C (p.Ile255Thr) c.*1330T>C (n.*1330T>C) c.452T>C (p.Ile151Thr) c.287T>C (p.Ile96Thr) c.688T>C c.1586T>C (p.Ile529Thr) c.1577T>C (p.Ile526Thr) c.1604T>C (p.Ile535Thr) c.1601T>C (p.Ile534Thr) c.1583T>C (p.Ile528Thr) c.1526T>C (p.Ile509Thr) c.26T>C (p.Ile9Thr) c.1574T>C (p.Ile525Thr) c.1580T>C (p.Ile527Thr) c.1496T>C (p.Ile499Thr) c.1424T>C (p.Ile475Thr) c.719T>C (p.Ile240Thr) | |
| 9 | g.137762768T>G | CA375769422 | EHMT1 | c.1595T>G (p.Ile532Ser) c.1481T>G (p.Ile494Ser) c.1502T>G (p.Ile501Ser) c.1635T>G (n.1635T>G) c.1540T>G c.1222T>G c.764T>G (p.Ile255Ser) c.*1330T>G (n.*1330T>G) c.452T>G (p.Ile151Ser) c.287T>G (p.Ile96Ser) c.688T>G c.1586T>G (p.Ile529Ser) c.1577T>G (p.Ile526Ser) c.1604T>G (p.Ile535Ser) c.1601T>G (p.Ile534Ser) c.1583T>G (p.Ile528Ser) c.1526T>G (p.Ile509Ser) c.26T>G (p.Ile9Ser) c.1574T>G (p.Ile525Ser) c.1580T>G (p.Ile527Ser) c.1496T>G (p.Ile499Ser) c.1424T>G (p.Ile475Ser) c.719T>G (p.Ile240Ser) |