Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.137762635T>ACA1884659522EHMT1c.1502-40T>A (n.1502-40T>A)
c.1388-40T>A (n.1388-40T>A)
c.1409-40T>A (n.1409-40T>A)
c.1542-40T>A (n.1542-40T>A)
c.1447-40T>A
c.1129-40T>A
c.671-40T>A (n.671-40T>A)
c.*1237-40T>A (n.*1237-40T>A)
c.359-40T>A (n.359-40T>A)
c.194-40T>A (n.194-40T>A)
c.595-40T>A
c.1493-40T>A (n.1493-40T>A)
c.1484-40T>A (n.1484-40T>A)
c.1511-40T>A (n.1511-40T>A)
c.1508-40T>A (n.1508-40T>A)
c.1490-40T>A (n.1490-40T>A)
c.1433-40T>A (n.1433-40T>A)
c.-68-40T>A (n.-68-40T>A)
c.1481-40T>A (n.1481-40T>A)
c.1487-40T>A (n.1487-40T>A)
c.1403-40T>A (n.1403-40T>A)
c.1331-40T>A (n.1331-40T>A)
c.626-40T>A (n.626-40T>A)
 dbSNP
9g.137762635T>GCA2692881766EHMT1c.1502-40T>G (n.1502-40T>G)
c.1388-40T>G (n.1388-40T>G)
c.1409-40T>G (n.1409-40T>G)
c.1542-40T>G (n.1542-40T>G)
c.1447-40T>G
c.1129-40T>G
c.671-40T>G (n.671-40T>G)
c.*1237-40T>G (n.*1237-40T>G)
c.359-40T>G (n.359-40T>G)
c.194-40T>G (n.194-40T>G)
c.595-40T>G
c.1493-40T>G (n.1493-40T>G)
c.1484-40T>G (n.1484-40T>G)
c.1511-40T>G (n.1511-40T>G)
c.1508-40T>G (n.1508-40T>G)
c.1490-40T>G (n.1490-40T>G)
c.1433-40T>G (n.1433-40T>G)
c.-68-40T>G (n.-68-40T>G)
c.1481-40T>G (n.1481-40T>G)
c.1487-40T>G (n.1487-40T>G)
c.1403-40T>G (n.1403-40T>G)
c.1331-40T>G (n.1331-40T>G)
c.626-40T>G (n.626-40T>G)
 gnomAD v4
9g.137762635T=CA1884659521EHMT1c.1502-40T= (n.1502-40T=)
c.1388-40T= (n.1388-40T=)
c.1409-40T= (n.1409-40T=)
c.1542-40T= (n.1542-40T=)
c.1447-40T=
c.1129-40T=
c.671-40T= (n.671-40T=)
c.*1237-40T= (n.*1237-40T=)
c.359-40T= (n.359-40T=)
c.194-40T= (n.194-40T=)
c.595-40T=
c.1493-40T= (n.1493-40T=)
c.1484-40T= (n.1484-40T=)
c.1511-40T= (n.1511-40T=)
c.1508-40T= (n.1508-40T=)
c.1490-40T= (n.1490-40T=)
c.1433-40T= (n.1433-40T=)
c.-68-40T= (n.-68-40T=)
c.1481-40T= (n.1481-40T=)
c.1487-40T= (n.1487-40T=)
c.1403-40T= (n.1403-40T=)
c.1331-40T= (n.1331-40T=)
c.626-40T= (n.626-40T=)
9g.137762636C>ACA2692881767EHMT1c.1502-39C>A (n.1502-39C>A)
c.1388-39C>A (n.1388-39C>A)
c.1409-39C>A (n.1409-39C>A)
c.1542-39C>A (n.1542-39C>A)
c.1447-39C>A
c.1129-39C>A
c.671-39C>A (n.671-39C>A)
c.*1237-39C>A (n.*1237-39C>A)
c.359-39C>A (n.359-39C>A)
c.194-39C>A (n.194-39C>A)
c.595-39C>A
c.1493-39C>A (n.1493-39C>A)
c.1484-39C>A (n.1484-39C>A)
c.1511-39C>A (n.1511-39C>A)
c.1508-39C>A (n.1508-39C>A)
c.1490-39C>A (n.1490-39C>A)
c.1433-39C>A (n.1433-39C>A)
c.-68-39C>A (n.-68-39C>A)
c.1481-39C>A (n.1481-39C>A)
c.1487-39C>A (n.1487-39C>A)
c.1403-39C>A (n.1403-39C>A)
c.1331-39C>A (n.1331-39C>A)
c.626-39C>A (n.626-39C>A)
 gnomAD v4
9g.137762636C=CA1884659523EHMT1c.1502-39C= (n.1502-39C=)
c.1388-39C= (n.1388-39C=)
c.1409-39C= (n.1409-39C=)
c.1542-39C= (n.1542-39C=)
c.1447-39C=
c.1129-39C=
c.671-39C= (n.671-39C=)
c.*1237-39C= (n.*1237-39C=)
c.359-39C= (n.359-39C=)
c.194-39C= (n.194-39C=)
c.595-39C=
c.1493-39C= (n.1493-39C=)
c.1484-39C= (n.1484-39C=)
c.1511-39C= (n.1511-39C=)
c.1508-39C= (n.1508-39C=)
c.1490-39C= (n.1490-39C=)
c.1433-39C= (n.1433-39C=)
c.-68-39C= (n.-68-39C=)
c.1481-39C= (n.1481-39C=)
c.1487-39C= (n.1487-39C=)
c.1403-39C= (n.1403-39C=)
c.1331-39C= (n.1331-39C=)
c.626-39C= (n.626-39C=)
9g.137762636C>GCA1884659524EHMT1c.1502-39C>G (n.1502-39C>G)
c.1388-39C>G (n.1388-39C>G)
c.1409-39C>G (n.1409-39C>G)
c.1542-39C>G (n.1542-39C>G)
c.1447-39C>G
c.1129-39C>G
c.671-39C>G (n.671-39C>G)
c.*1237-39C>G (n.*1237-39C>G)
c.359-39C>G (n.359-39C>G)
c.194-39C>G (n.194-39C>G)
c.595-39C>G
c.1493-39C>G (n.1493-39C>G)
c.1484-39C>G (n.1484-39C>G)
c.1511-39C>G (n.1511-39C>G)
c.1508-39C>G (n.1508-39C>G)
c.1490-39C>G (n.1490-39C>G)
c.1433-39C>G (n.1433-39C>G)
c.-68-39C>G (n.-68-39C>G)
c.1481-39C>G (n.1481-39C>G)
c.1487-39C>G (n.1487-39C>G)
c.1403-39C>G (n.1403-39C>G)
c.1331-39C>G (n.1331-39C>G)
c.626-39C>G (n.626-39C>G)
 dbSNP gnomAD v4
9g.137762638G>ACA2579536149EHMT1c.1502-37G>A (n.1502-37G>A)
c.1388-37G>A (n.1388-37G>A)
c.1409-37G>A (n.1409-37G>A)
c.1542-37G>A (n.1542-37G>A)
c.1447-37G>A
c.1129-37G>A
c.671-37G>A (n.671-37G>A)
c.*1237-37G>A (n.*1237-37G>A)
c.359-37G>A (n.359-37G>A)
c.194-37G>A (n.194-37G>A)
c.595-37G>A
c.1493-37G>A (n.1493-37G>A)
c.1484-37G>A (n.1484-37G>A)
c.1511-37G>A (n.1511-37G>A)
c.1508-37G>A (n.1508-37G>A)
c.1490-37G>A (n.1490-37G>A)
c.1433-37G>A (n.1433-37G>A)
c.-68-37G>A (n.-68-37G>A)
c.1481-37G>A (n.1481-37G>A)
c.1487-37G>A (n.1487-37G>A)
c.1403-37G>A (n.1403-37G>A)
c.1331-37G>A (n.1331-37G>A)
c.626-37G>A (n.626-37G>A)
9g.137762639G>ACA591241122EHMT1c.1502-36G>A (n.1502-36G>A)
c.1388-36G>A (n.1388-36G>A)
c.1409-36G>A (n.1409-36G>A)
c.1542-36G>A (n.1542-36G>A)
c.1447-36G>A
c.1129-36G>A
c.671-36G>A (n.671-36G>A)
c.*1237-36G>A (n.*1237-36G>A)
c.359-36G>A (n.359-36G>A)
c.194-36G>A (n.194-36G>A)
c.595-36G>A
c.1493-36G>A (n.1493-36G>A)
c.1484-36G>A (n.1484-36G>A)
c.1511-36G>A (n.1511-36G>A)
c.1508-36G>A (n.1508-36G>A)
c.1490-36G>A (n.1490-36G>A)
c.1433-36G>A (n.1433-36G>A)
c.-68-36G>A (n.-68-36G>A)
c.1481-36G>A (n.1481-36G>A)
c.1487-36G>A (n.1487-36G>A)
c.1403-36G>A (n.1403-36G>A)
c.1331-36G>A (n.1331-36G>A)
c.626-36G>A (n.626-36G>A)
 dbSNP gnomAD v2 gnomAD v4
9g.137762639G=CA1884659525EHMT1c.1502-36G= (n.1502-36G=)
c.1388-36G= (n.1388-36G=)
c.1409-36G= (n.1409-36G=)
c.1542-36G= (n.1542-36G=)
c.1447-36G=
c.1129-36G=
c.671-36G= (n.671-36G=)
c.*1237-36G= (n.*1237-36G=)
c.359-36G= (n.359-36G=)
c.194-36G= (n.194-36G=)
c.595-36G=
c.1493-36G= (n.1493-36G=)
c.1484-36G= (n.1484-36G=)
c.1511-36G= (n.1511-36G=)
c.1508-36G= (n.1508-36G=)
c.1490-36G= (n.1490-36G=)
c.1433-36G= (n.1433-36G=)
c.-68-36G= (n.-68-36G=)
c.1481-36G= (n.1481-36G=)
c.1487-36G= (n.1487-36G=)
c.1403-36G= (n.1403-36G=)
c.1331-36G= (n.1331-36G=)
c.626-36G= (n.626-36G=)
9g.137762640A>GCA2579536150EHMT1c.1502-35A>G (n.1502-35A>G)
c.1388-35A>G (n.1388-35A>G)
c.1409-35A>G (n.1409-35A>G)
c.1542-35A>G (n.1542-35A>G)
c.1447-35A>G
c.1129-35A>G
c.671-35A>G (n.671-35A>G)
c.*1237-35A>G (n.*1237-35A>G)
c.359-35A>G (n.359-35A>G)
c.194-35A>G (n.194-35A>G)
c.595-35A>G
c.1493-35A>G (n.1493-35A>G)
c.1484-35A>G (n.1484-35A>G)
c.1511-35A>G (n.1511-35A>G)
c.1508-35A>G (n.1508-35A>G)
c.1490-35A>G (n.1490-35A>G)
c.1433-35A>G (n.1433-35A>G)
c.-68-35A>G (n.-68-35A>G)
c.1481-35A>G (n.1481-35A>G)
c.1487-35A>G (n.1487-35A>G)
c.1403-35A>G (n.1403-35A>G)
c.1331-35A>G (n.1331-35A>G)
c.626-35A>G (n.626-35A>G)
 gnomAD v4
9g.137762642T>ACA5374645EHMT1c.1502-33T>A (n.1502-33T>A)
c.1388-33T>A (n.1388-33T>A)
c.1409-33T>A (n.1409-33T>A)
c.1542-33T>A (n.1542-33T>A)
c.1447-33T>A
c.1129-33T>A
c.671-33T>A (n.671-33T>A)
c.*1237-33T>A (n.*1237-33T>A)
c.359-33T>A (n.359-33T>A)
c.194-33T>A (n.194-33T>A)
c.595-33T>A
c.1493-33T>A (n.1493-33T>A)
c.1484-33T>A (n.1484-33T>A)
c.1511-33T>A (n.1511-33T>A)
c.1508-33T>A (n.1508-33T>A)
c.1490-33T>A (n.1490-33T>A)
c.1433-33T>A (n.1433-33T>A)
c.-68-33T>A (n.-68-33T>A)
c.1481-33T>A (n.1481-33T>A)
c.1487-33T>A (n.1487-33T>A)
c.1403-33T>A (n.1403-33T>A)
c.1331-33T>A (n.1331-33T>A)
c.626-33T>A (n.626-33T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137762642T>CCA861193681EHMT1c.1502-33T>C (n.1502-33T>C)
c.1388-33T>C (n.1388-33T>C)
c.1409-33T>C (n.1409-33T>C)
c.1542-33T>C (n.1542-33T>C)
c.1447-33T>C
c.1129-33T>C
c.671-33T>C (n.671-33T>C)
c.*1237-33T>C (n.*1237-33T>C)
c.359-33T>C (n.359-33T>C)
c.194-33T>C (n.194-33T>C)
c.595-33T>C
c.1493-33T>C (n.1493-33T>C)
c.1484-33T>C (n.1484-33T>C)
c.1511-33T>C (n.1511-33T>C)
c.1508-33T>C (n.1508-33T>C)
c.1490-33T>C (n.1490-33T>C)
c.1433-33T>C (n.1433-33T>C)
c.-68-33T>C (n.-68-33T>C)
c.1481-33T>C (n.1481-33T>C)
c.1487-33T>C (n.1487-33T>C)
c.1403-33T>C (n.1403-33T>C)
c.1331-33T>C (n.1331-33T>C)
c.626-33T>C (n.626-33T>C)
 dbSNP
9g.137762642T=CA1884659526EHMT1c.1502-33T= (n.1502-33T=)
c.1388-33T= (n.1388-33T=)
c.1409-33T= (n.1409-33T=)
c.1542-33T= (n.1542-33T=)
c.1447-33T=
c.1129-33T=
c.671-33T= (n.671-33T=)
c.*1237-33T= (n.*1237-33T=)
c.359-33T= (n.359-33T=)
c.194-33T= (n.194-33T=)
c.595-33T=
c.1493-33T= (n.1493-33T=)
c.1484-33T= (n.1484-33T=)
c.1511-33T= (n.1511-33T=)
c.1508-33T= (n.1508-33T=)
c.1490-33T= (n.1490-33T=)
c.1433-33T= (n.1433-33T=)
c.-68-33T= (n.-68-33T=)
c.1481-33T= (n.1481-33T=)
c.1487-33T= (n.1487-33T=)
c.1403-33T= (n.1403-33T=)
c.1331-33T= (n.1331-33T=)
c.626-33T= (n.626-33T=)
9g.137762643G=CA1884659527EHMT1c.1502-32G= (n.1502-32G=)
c.1388-32G= (n.1388-32G=)
c.1409-32G= (n.1409-32G=)
c.1542-32G= (n.1542-32G=)
c.1447-32G=
c.1129-32G=
c.671-32G= (n.671-32G=)
c.*1237-32G= (n.*1237-32G=)
c.359-32G= (n.359-32G=)
c.194-32G= (n.194-32G=)
c.595-32G=
c.1493-32G= (n.1493-32G=)
c.1484-32G= (n.1484-32G=)
c.1511-32G= (n.1511-32G=)
c.1508-32G= (n.1508-32G=)
c.1490-32G= (n.1490-32G=)
c.1433-32G= (n.1433-32G=)
c.-68-32G= (n.-68-32G=)
c.1481-32G= (n.1481-32G=)
c.1487-32G= (n.1487-32G=)
c.1403-32G= (n.1403-32G=)
c.1331-32G= (n.1331-32G=)
c.626-32G= (n.626-32G=)
9g.137762643G>TCA1884659528EHMT1c.1502-32G>T (n.1502-32G>T)
c.1388-32G>T (n.1388-32G>T)
c.1409-32G>T (n.1409-32G>T)
c.1542-32G>T (n.1542-32G>T)
c.1447-32G>T
c.1129-32G>T
c.671-32G>T (n.671-32G>T)
c.*1237-32G>T (n.*1237-32G>T)
c.359-32G>T (n.359-32G>T)
c.194-32G>T (n.194-32G>T)
c.595-32G>T
c.1493-32G>T (n.1493-32G>T)
c.1484-32G>T (n.1484-32G>T)
c.1511-32G>T (n.1511-32G>T)
c.1508-32G>T (n.1508-32G>T)
c.1490-32G>T (n.1490-32G>T)
c.1433-32G>T (n.1433-32G>T)
c.-68-32G>T (n.-68-32G>T)
c.1481-32G>T (n.1481-32G>T)
c.1487-32G>T (n.1487-32G>T)
c.1403-32G>T (n.1403-32G>T)
c.1331-32G>T (n.1331-32G>T)
c.626-32G>T (n.626-32G>T)
 dbSNP gnomAD v4
9g.137762644C=CA1884659529EHMT1c.1502-31C= (n.1502-31C=)
c.1388-31C= (n.1388-31C=)
c.1409-31C= (n.1409-31C=)
c.1542-31C= (n.1542-31C=)
c.1447-31C=
c.1129-31C=
c.671-31C= (n.671-31C=)
c.*1237-31C= (n.*1237-31C=)
c.359-31C= (n.359-31C=)
c.194-31C= (n.194-31C=)
c.595-31C=
c.1493-31C= (n.1493-31C=)
c.1484-31C= (n.1484-31C=)
c.1511-31C= (n.1511-31C=)
c.1508-31C= (n.1508-31C=)
c.1490-31C= (n.1490-31C=)
c.1433-31C= (n.1433-31C=)
c.-68-31C= (n.-68-31C=)
c.1481-31C= (n.1481-31C=)
c.1487-31C= (n.1487-31C=)
c.1403-31C= (n.1403-31C=)
c.1331-31C= (n.1331-31C=)
c.626-31C= (n.626-31C=)
9g.137762644C>TCA591241123EHMT1c.1502-31C>T (n.1502-31C>T)
c.1388-31C>T (n.1388-31C>T)
c.1409-31C>T (n.1409-31C>T)
c.1542-31C>T (n.1542-31C>T)
c.1447-31C>T
c.1129-31C>T
c.671-31C>T (n.671-31C>T)
c.*1237-31C>T (n.*1237-31C>T)
c.359-31C>T (n.359-31C>T)
c.194-31C>T (n.194-31C>T)
c.595-31C>T
c.1493-31C>T (n.1493-31C>T)
c.1484-31C>T (n.1484-31C>T)
c.1511-31C>T (n.1511-31C>T)
c.1508-31C>T (n.1508-31C>T)
c.1490-31C>T (n.1490-31C>T)
c.1433-31C>T (n.1433-31C>T)
c.-68-31C>T (n.-68-31C>T)
c.1481-31C>T (n.1481-31C>T)
c.1487-31C>T (n.1487-31C>T)
c.1403-31C>T (n.1403-31C>T)
c.1331-31C>T (n.1331-31C>T)
c.626-31C>T (n.626-31C>T)
 dbSNP gnomAD v2
9g.137762645A=CA1884659530EHMT1c.1502-30A= (n.1502-30A=)
c.1388-30A= (n.1388-30A=)
c.1409-30A= (n.1409-30A=)
c.1542-30A= (n.1542-30A=)
c.1447-30A=
c.1129-30A=
c.671-30A= (n.671-30A=)
c.*1237-30A= (n.*1237-30A=)
c.359-30A= (n.359-30A=)
c.194-30A= (n.194-30A=)
c.595-30A=
c.1493-30A= (n.1493-30A=)
c.1484-30A= (n.1484-30A=)
c.1511-30A= (n.1511-30A=)
c.1508-30A= (n.1508-30A=)
c.1490-30A= (n.1490-30A=)
c.1433-30A= (n.1433-30A=)
c.-68-30A= (n.-68-30A=)
c.1481-30A= (n.1481-30A=)
c.1487-30A= (n.1487-30A=)
c.1403-30A= (n.1403-30A=)
c.1331-30A= (n.1331-30A=)
c.626-30A= (n.626-30A=)
9g.137762645A>GCA2692881768EHMT1c.1502-30A>G (n.1502-30A>G)
c.1388-30A>G (n.1388-30A>G)
c.1409-30A>G (n.1409-30A>G)
c.1542-30A>G (n.1542-30A>G)
c.1447-30A>G
c.1129-30A>G
c.671-30A>G (n.671-30A>G)
c.*1237-30A>G (n.*1237-30A>G)
c.359-30A>G (n.359-30A>G)
c.194-30A>G (n.194-30A>G)
c.595-30A>G
c.1493-30A>G (n.1493-30A>G)
c.1484-30A>G (n.1484-30A>G)
c.1511-30A>G (n.1511-30A>G)
c.1508-30A>G (n.1508-30A>G)
c.1490-30A>G (n.1490-30A>G)
c.1433-30A>G (n.1433-30A>G)
c.-68-30A>G (n.-68-30A>G)
c.1481-30A>G (n.1481-30A>G)
c.1487-30A>G (n.1487-30A>G)
c.1403-30A>G (n.1403-30A>G)
c.1331-30A>G (n.1331-30A>G)
c.626-30A>G (n.626-30A>G)
 gnomAD v4
9g.137762645A>TCA1884659531EHMT1c.1502-30A>T (n.1502-30A>T)
c.1388-30A>T (n.1388-30A>T)
c.1409-30A>T (n.1409-30A>T)
c.1542-30A>T (n.1542-30A>T)
c.1447-30A>T
c.1129-30A>T
c.671-30A>T (n.671-30A>T)
c.*1237-30A>T (n.*1237-30A>T)
c.359-30A>T (n.359-30A>T)
c.194-30A>T (n.194-30A>T)
c.595-30A>T
c.1493-30A>T (n.1493-30A>T)
c.1484-30A>T (n.1484-30A>T)
c.1511-30A>T (n.1511-30A>T)
c.1508-30A>T (n.1508-30A>T)
c.1490-30A>T (n.1490-30A>T)
c.1433-30A>T (n.1433-30A>T)
c.-68-30A>T (n.-68-30A>T)
c.1481-30A>T (n.1481-30A>T)
c.1487-30A>T (n.1487-30A>T)
c.1403-30A>T (n.1403-30A>T)
c.1331-30A>T (n.1331-30A>T)
c.626-30A>T (n.626-30A>T)
 dbSNP
9g.137762646T>GCA2579536151EHMT1c.1502-29T>G (n.1502-29T>G)
c.1388-29T>G (n.1388-29T>G)
c.1409-29T>G (n.1409-29T>G)
c.1542-29T>G (n.1542-29T>G)
c.1447-29T>G
c.1129-29T>G
c.671-29T>G (n.671-29T>G)
c.*1237-29T>G (n.*1237-29T>G)
c.359-29T>G (n.359-29T>G)
c.194-29T>G (n.194-29T>G)
c.595-29T>G
c.1493-29T>G (n.1493-29T>G)
c.1484-29T>G (n.1484-29T>G)
c.1511-29T>G (n.1511-29T>G)
c.1508-29T>G (n.1508-29T>G)
c.1490-29T>G (n.1490-29T>G)
c.1433-29T>G (n.1433-29T>G)
c.-68-29T>G (n.-68-29T>G)
c.1481-29T>G (n.1481-29T>G)
c.1487-29T>G (n.1487-29T>G)
c.1403-29T>G (n.1403-29T>G)
c.1331-29T>G (n.1331-29T>G)
c.626-29T>G (n.626-29T>G)
 gnomAD v4
9g.137762647G>ACA5374646EHMT1c.1502-28G>A (n.1502-28G>A)
c.1388-28G>A (n.1388-28G>A)
c.1409-28G>A (n.1409-28G>A)
c.1542-28G>A (n.1542-28G>A)
c.1447-28G>A
c.1129-28G>A
c.671-28G>A (n.671-28G>A)
c.*1237-28G>A (n.*1237-28G>A)
c.359-28G>A (n.359-28G>A)
c.194-28G>A (n.194-28G>A)
c.595-28G>A
c.1493-28G>A (n.1493-28G>A)
c.1484-28G>A (n.1484-28G>A)
c.1511-28G>A (n.1511-28G>A)
c.1508-28G>A (n.1508-28G>A)
c.1490-28G>A (n.1490-28G>A)
c.1433-28G>A (n.1433-28G>A)
c.-68-28G>A (n.-68-28G>A)
c.1481-28G>A (n.1481-28G>A)
c.1487-28G>A (n.1487-28G>A)
c.1403-28G>A (n.1403-28G>A)
c.1331-28G>A (n.1331-28G>A)
c.626-28G>A (n.626-28G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137762647G=CA1884659532EHMT1c.1502-28G= (n.1502-28G=)
c.1388-28G= (n.1388-28G=)
c.1409-28G= (n.1409-28G=)
c.1542-28G= (n.1542-28G=)
c.1447-28G=
c.1129-28G=
c.671-28G= (n.671-28G=)
c.*1237-28G= (n.*1237-28G=)
c.359-28G= (n.359-28G=)
c.194-28G= (n.194-28G=)
c.595-28G=
c.1493-28G= (n.1493-28G=)
c.1484-28G= (n.1484-28G=)
c.1511-28G= (n.1511-28G=)
c.1508-28G= (n.1508-28G=)
c.1490-28G= (n.1490-28G=)
c.1433-28G= (n.1433-28G=)
c.-68-28G= (n.-68-28G=)
c.1481-28G= (n.1481-28G=)
c.1487-28G= (n.1487-28G=)
c.1403-28G= (n.1403-28G=)
c.1331-28G= (n.1331-28G=)
c.626-28G= (n.626-28G=)
9g.137762648A=CA1884659533EHMT1c.1502-27A= (n.1502-27A=)
c.1388-27A= (n.1388-27A=)
c.1409-27A= (n.1409-27A=)
c.1542-27A= (n.1542-27A=)
c.1447-27A=
c.1129-27A=
c.671-27A= (n.671-27A=)
c.*1237-27A= (n.*1237-27A=)
c.359-27A= (n.359-27A=)
c.194-27A= (n.194-27A=)
c.595-27A=
c.1493-27A= (n.1493-27A=)
c.1484-27A= (n.1484-27A=)
c.1511-27A= (n.1511-27A=)
c.1508-27A= (n.1508-27A=)
c.1490-27A= (n.1490-27A=)
c.1433-27A= (n.1433-27A=)
c.-68-27A= (n.-68-27A=)
c.1481-27A= (n.1481-27A=)
c.1487-27A= (n.1487-27A=)
c.1403-27A= (n.1403-27A=)
c.1331-27A= (n.1331-27A=)
c.626-27A= (n.626-27A=)
9g.137762648A>GCA5374647EHMT1c.1502-27A>G (n.1502-27A>G)
c.1388-27A>G (n.1388-27A>G)
c.1409-27A>G (n.1409-27A>G)
c.1542-27A>G (n.1542-27A>G)
c.1447-27A>G
c.1129-27A>G
c.671-27A>G (n.671-27A>G)
c.*1237-27A>G (n.*1237-27A>G)
c.359-27A>G (n.359-27A>G)
c.194-27A>G (n.194-27A>G)
c.595-27A>G
c.1493-27A>G (n.1493-27A>G)
c.1484-27A>G (n.1484-27A>G)
c.1511-27A>G (n.1511-27A>G)
c.1508-27A>G (n.1508-27A>G)
c.1490-27A>G (n.1490-27A>G)
c.1433-27A>G (n.1433-27A>G)
c.-68-27A>G (n.-68-27A>G)
c.1481-27A>G (n.1481-27A>G)
c.1487-27A>G (n.1487-27A>G)
c.1403-27A>G (n.1403-27A>G)
c.1331-27A>G (n.1331-27A>G)
c.626-27A>G (n.626-27A>G)
 dbSNP ExAC gnomAD v2
9g.137762649G>ACA2692881769EHMT1c.1502-26G>A (n.1502-26G>A)
c.1388-26G>A (n.1388-26G>A)
c.1409-26G>A (n.1409-26G>A)
c.1542-26G>A (n.1542-26G>A)
c.1447-26G>A
c.1129-26G>A
c.671-26G>A (n.671-26G>A)
c.*1237-26G>A (n.*1237-26G>A)
c.359-26G>A (n.359-26G>A)
c.194-26G>A (n.194-26G>A)
c.595-26G>A
c.1493-26G>A (n.1493-26G>A)
c.1484-26G>A (n.1484-26G>A)
c.1511-26G>A (n.1511-26G>A)
c.1508-26G>A (n.1508-26G>A)
c.1490-26G>A (n.1490-26G>A)
c.1433-26G>A (n.1433-26G>A)
c.-68-26G>A (n.-68-26G>A)
c.1481-26G>A (n.1481-26G>A)
c.1487-26G>A (n.1487-26G>A)
c.1403-26G>A (n.1403-26G>A)
c.1331-26G>A (n.1331-26G>A)
c.626-26G>A (n.626-26G>A)
 gnomAD v4
9g.137762652G>ACA5374648EHMT1c.1502-23G>A (n.1502-23G>A)
c.1388-23G>A (n.1388-23G>A)
c.1409-23G>A (n.1409-23G>A)
c.1542-23G>A (n.1542-23G>A)
c.1447-23G>A
c.1129-23G>A
c.671-23G>A (n.671-23G>A)
c.*1237-23G>A (n.*1237-23G>A)
c.359-23G>A (n.359-23G>A)
c.194-23G>A (n.194-23G>A)
c.595-23G>A
c.1493-23G>A (n.1493-23G>A)
c.1484-23G>A (n.1484-23G>A)
c.1511-23G>A (n.1511-23G>A)
c.1508-23G>A (n.1508-23G>A)
c.1490-23G>A (n.1490-23G>A)
c.1433-23G>A (n.1433-23G>A)
c.-68-23G>A (n.-68-23G>A)
c.1481-23G>A (n.1481-23G>A)
c.1487-23G>A (n.1487-23G>A)
c.1403-23G>A (n.1403-23G>A)
c.1331-23G>A (n.1331-23G>A)
c.626-23G>A (n.626-23G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137762652G=CA1884659534EHMT1c.1502-23G= (n.1502-23G=)
c.1388-23G= (n.1388-23G=)
c.1409-23G= (n.1409-23G=)
c.1542-23G= (n.1542-23G=)
c.1447-23G=
c.1129-23G=
c.671-23G= (n.671-23G=)
c.*1237-23G= (n.*1237-23G=)
c.359-23G= (n.359-23G=)
c.194-23G= (n.194-23G=)
c.595-23G=
c.1493-23G= (n.1493-23G=)
c.1484-23G= (n.1484-23G=)
c.1511-23G= (n.1511-23G=)
c.1508-23G= (n.1508-23G=)
c.1490-23G= (n.1490-23G=)
c.1433-23G= (n.1433-23G=)
c.-68-23G= (n.-68-23G=)
c.1481-23G= (n.1481-23G=)
c.1487-23G= (n.1487-23G=)
c.1403-23G= (n.1403-23G=)
c.1331-23G= (n.1331-23G=)
c.626-23G= (n.626-23G=)
9g.137762654C>TCA2692881770EHMT1c.1502-21C>T (n.1502-21C>T)
c.1388-21C>T (n.1388-21C>T)
c.1409-21C>T (n.1409-21C>T)
c.1542-21C>T (n.1542-21C>T)
c.1447-21C>T
c.1129-21C>T
c.671-21C>T (n.671-21C>T)
c.*1237-21C>T (n.*1237-21C>T)
c.359-21C>T (n.359-21C>T)
c.194-21C>T (n.194-21C>T)
c.595-21C>T
c.1493-21C>T (n.1493-21C>T)
c.1484-21C>T (n.1484-21C>T)
c.1511-21C>T (n.1511-21C>T)
c.1508-21C>T (n.1508-21C>T)
c.1490-21C>T (n.1490-21C>T)
c.1433-21C>T (n.1433-21C>T)
c.-68-21C>T (n.-68-21C>T)
c.1481-21C>T (n.1481-21C>T)
c.1487-21C>T (n.1487-21C>T)
c.1403-21C>T (n.1403-21C>T)
c.1331-21C>T (n.1331-21C>T)
c.626-21C>T (n.626-21C>T)
 gnomAD v4
9g.137762654_137762656delinsCATCA1884659535EHMT1c.1502-21_1502-19delinsCAT (n.1502-21_1502-19delinsCAT)
c.1388-21_1388-19delinsCAT (n.1388-21_1388-19delinsCAT)
c.1409-21_1409-19delinsCAT (n.1409-21_1409-19delinsCAT)
c.1542-21_1542-19delinsCAT (n.1542-21_1542-19delinsCAT)
c.1447-21_1447-19delinsCAT
c.1129-21_1129-19delinsCAT
c.671-21_671-19delinsCAT (n.671-21_671-19delinsCAT)
c.*1237-21_*1237-19delinsCAT (n.*1237-21_*1237-19delinsCAT)
c.359-21_359-19delinsCAT (n.359-21_359-19delinsCAT)
c.194-21_194-19delinsCAT (n.194-21_194-19delinsCAT)
c.595-21_595-19delinsCAT
c.1493-21_1493-19delinsCAT (n.1493-21_1493-19delinsCAT)
c.1484-21_1484-19delinsCAT (n.1484-21_1484-19delinsCAT)
c.1511-21_1511-19delinsCAT (n.1511-21_1511-19delinsCAT)
c.1508-21_1508-19delinsCAT (n.1508-21_1508-19delinsCAT)
c.1490-21_1490-19delinsCAT (n.1490-21_1490-19delinsCAT)
c.1433-21_1433-19delinsCAT (n.1433-21_1433-19delinsCAT)
c.-68-21_-68-19delinsCAT (n.-68-21_-68-19delinsCAT)
c.1481-21_1481-19delinsCAT (n.1481-21_1481-19delinsCAT)
c.1487-21_1487-19delinsCAT (n.1487-21_1487-19delinsCAT)
c.1403-21_1403-19delinsCAT (n.1403-21_1403-19delinsCAT)
c.1331-21_1331-19delinsCAT (n.1331-21_1331-19delinsCAT)
c.626-21_626-19delinsCAT (n.626-21_626-19delinsCAT)
9g.137762655A=CA1884659536EHMT1c.1502-20A= (n.1502-20A=)
c.1388-20A= (n.1388-20A=)
c.1409-20A= (n.1409-20A=)
c.1542-20A= (n.1542-20A=)
c.1447-20A=
c.1129-20A=
c.671-20A= (n.671-20A=)
c.*1237-20A= (n.*1237-20A=)
c.359-20A= (n.359-20A=)
c.194-20A= (n.194-20A=)
c.595-20A=
c.1493-20A= (n.1493-20A=)
c.1484-20A= (n.1484-20A=)
c.1511-20A= (n.1511-20A=)
c.1508-20A= (n.1508-20A=)
c.1490-20A= (n.1490-20A=)
c.1433-20A= (n.1433-20A=)
c.-68-20A= (n.-68-20A=)
c.1481-20A= (n.1481-20A=)
c.1487-20A= (n.1487-20A=)
c.1403-20A= (n.1403-20A=)
c.1331-20A= (n.1331-20A=)
c.626-20A= (n.626-20A=)
9g.137762655A>CCA1130130149EHMT1c.1502-20A>C (n.1502-20A>C)
c.1388-20A>C (n.1388-20A>C)
c.1409-20A>C (n.1409-20A>C)
c.1542-20A>C (n.1542-20A>C)
c.1447-20A>C
c.1129-20A>C
c.671-20A>C (n.671-20A>C)
c.*1237-20A>C (n.*1237-20A>C)
c.359-20A>C (n.359-20A>C)
c.194-20A>C (n.194-20A>C)
c.595-20A>C
c.1493-20A>C (n.1493-20A>C)
c.1484-20A>C (n.1484-20A>C)
c.1511-20A>C (n.1511-20A>C)
c.1508-20A>C (n.1508-20A>C)
c.1490-20A>C (n.1490-20A>C)
c.1433-20A>C (n.1433-20A>C)
c.-68-20A>C (n.-68-20A>C)
c.1481-20A>C (n.1481-20A>C)
c.1487-20A>C (n.1487-20A>C)
c.1403-20A>C (n.1403-20A>C)
c.1331-20A>C (n.1331-20A>C)
c.626-20A>C (n.626-20A>C)
 dbSNP gnomAD v3 gnomAD v4
9g.137762655A>GCA591241124EHMT1c.1502-20A>G (n.1502-20A>G)
c.1388-20A>G (n.1388-20A>G)
c.1409-20A>G (n.1409-20A>G)
c.1542-20A>G (n.1542-20A>G)
c.1447-20A>G
c.1129-20A>G
c.671-20A>G (n.671-20A>G)
c.*1237-20A>G (n.*1237-20A>G)
c.359-20A>G (n.359-20A>G)
c.194-20A>G (n.194-20A>G)
c.595-20A>G
c.1493-20A>G (n.1493-20A>G)
c.1484-20A>G (n.1484-20A>G)
c.1511-20A>G (n.1511-20A>G)
c.1508-20A>G (n.1508-20A>G)
c.1490-20A>G (n.1490-20A>G)
c.1433-20A>G (n.1433-20A>G)
c.-68-20A>G (n.-68-20A>G)
c.1481-20A>G (n.1481-20A>G)
c.1487-20A>G (n.1487-20A>G)
c.1403-20A>G (n.1403-20A>G)
c.1331-20A>G (n.1331-20A>G)
c.626-20A>G (n.626-20A>G)
 dbSNP gnomAD v2 gnomAD v4
9g.137762655_137762656delCA5374649EHMT1c.1502-20_1502-19del (n.1502-20_1502-19del)
c.1388-20_1388-19del (n.1388-20_1388-19del)
c.1409-20_1409-19del (n.1409-20_1409-19del)
c.1542-20_1542-19del (n.1542-20_1542-19del)
c.1447-20_1447-19del
c.1129-20_1129-19del
c.671-20_671-19del (n.671-20_671-19del)
c.*1237-20_*1237-19del (n.*1237-20_*1237-19del)
c.359-20_359-19del (n.359-20_359-19del)
c.194-20_194-19del (n.194-20_194-19del)
c.595-20_595-19del
c.1493-20_1493-19del (n.1493-20_1493-19del)
c.1484-20_1484-19del (n.1484-20_1484-19del)
c.1511-20_1511-19del (n.1511-20_1511-19del)
c.1508-20_1508-19del (n.1508-20_1508-19del)
c.1490-20_1490-19del (n.1490-20_1490-19del)
c.1433-20_1433-19del (n.1433-20_1433-19del)
c.-68-20_-68-19del (n.-68-20_-68-19del)
c.1481-20_1481-19del (n.1481-20_1481-19del)
c.1487-20_1487-19del (n.1487-20_1487-19del)
c.1403-20_1403-19del (n.1403-20_1403-19del)
c.1331-20_1331-19del (n.1331-20_1331-19del)
c.626-20_626-19del (n.626-20_626-19del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137762656T>ACA591241125EHMT1c.1502-19T>A (n.1502-19T>A)
c.1388-19T>A (n.1388-19T>A)
c.1409-19T>A (n.1409-19T>A)
c.1542-19T>A (n.1542-19T>A)
c.1447-19T>A
c.1129-19T>A
c.671-19T>A (n.671-19T>A)
c.*1237-19T>A (n.*1237-19T>A)
c.359-19T>A (n.359-19T>A)
c.194-19T>A (n.194-19T>A)
c.595-19T>A
c.1493-19T>A (n.1493-19T>A)
c.1484-19T>A (n.1484-19T>A)
c.1511-19T>A (n.1511-19T>A)
c.1508-19T>A (n.1508-19T>A)
c.1490-19T>A (n.1490-19T>A)
c.1433-19T>A (n.1433-19T>A)
c.-68-19T>A (n.-68-19T>A)
c.1481-19T>A (n.1481-19T>A)
c.1487-19T>A (n.1487-19T>A)
c.1403-19T>A (n.1403-19T>A)
c.1331-19T>A (n.1331-19T>A)
c.626-19T>A (n.626-19T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137762656T>CCA5374650EHMT1c.1502-19T>C (n.1502-19T>C)
c.1388-19T>C (n.1388-19T>C)
c.1409-19T>C (n.1409-19T>C)
c.1542-19T>C (n.1542-19T>C)
c.1447-19T>C
c.1129-19T>C
c.671-19T>C (n.671-19T>C)
c.*1237-19T>C (n.*1237-19T>C)
c.359-19T>C (n.359-19T>C)
c.194-19T>C (n.194-19T>C)
c.595-19T>C
c.1493-19T>C (n.1493-19T>C)
c.1484-19T>C (n.1484-19T>C)
c.1511-19T>C (n.1511-19T>C)
c.1508-19T>C (n.1508-19T>C)
c.1490-19T>C (n.1490-19T>C)
c.1433-19T>C (n.1433-19T>C)
c.-68-19T>C (n.-68-19T>C)
c.1481-19T>C (n.1481-19T>C)
c.1487-19T>C (n.1487-19T>C)
c.1403-19T>C (n.1403-19T>C)
c.1331-19T>C (n.1331-19T>C)
c.626-19T>C (n.626-19T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137762656T=CA1884659537EHMT1c.1502-19T= (n.1502-19T=)
c.1388-19T= (n.1388-19T=)
c.1409-19T= (n.1409-19T=)
c.1542-19T= (n.1542-19T=)
c.1447-19T=
c.1129-19T=
c.671-19T= (n.671-19T=)
c.*1237-19T= (n.*1237-19T=)
c.359-19T= (n.359-19T=)
c.194-19T= (n.194-19T=)
c.595-19T=
c.1493-19T= (n.1493-19T=)
c.1484-19T= (n.1484-19T=)
c.1511-19T= (n.1511-19T=)
c.1508-19T= (n.1508-19T=)
c.1490-19T= (n.1490-19T=)
c.1433-19T= (n.1433-19T=)
c.-68-19T= (n.-68-19T=)
c.1481-19T= (n.1481-19T=)
c.1487-19T= (n.1487-19T=)
c.1403-19T= (n.1403-19T=)
c.1331-19T= (n.1331-19T=)
c.626-19T= (n.626-19T=)
9g.137762657G>ACA2573144335EHMT1c.1502-18G>A (n.1502-18G>A)
c.1388-18G>A (n.1388-18G>A)
c.1409-18G>A (n.1409-18G>A)
c.1542-18G>A (n.1542-18G>A)
c.1447-18G>A
c.1129-18G>A
c.671-18G>A (n.671-18G>A)
c.*1237-18G>A (n.*1237-18G>A)
c.359-18G>A (n.359-18G>A)
c.194-18G>A (n.194-18G>A)
c.595-18G>A
c.1493-18G>A (n.1493-18G>A)
c.1484-18G>A (n.1484-18G>A)
c.1511-18G>A (n.1511-18G>A)
c.1508-18G>A (n.1508-18G>A)
c.1490-18G>A (n.1490-18G>A)
c.1433-18G>A (n.1433-18G>A)
c.-68-18G>A (n.-68-18G>A)
c.1481-18G>A (n.1481-18G>A)
c.1487-18G>A (n.1487-18G>A)
c.1403-18G>A (n.1403-18G>A)
c.1331-18G>A (n.1331-18G>A)
c.626-18G>A (n.626-18G>A)
 ClinVar dbSNP
9g.137762658T>ACA2786318229EHMT1c.1502-17T>A (n.1502-17T>A)
c.1388-17T>A (n.1388-17T>A)
c.1409-17T>A (n.1409-17T>A)
c.1542-17T>A (n.1542-17T>A)
c.1447-17T>A
c.1129-17T>A
c.671-17T>A (n.671-17T>A)
c.*1237-17T>A (n.*1237-17T>A)
c.359-17T>A (n.359-17T>A)
c.194-17T>A (n.194-17T>A)
c.595-17T>A
c.1493-17T>A (n.1493-17T>A)
c.1484-17T>A (n.1484-17T>A)
c.1511-17T>A (n.1511-17T>A)
c.1508-17T>A (n.1508-17T>A)
c.1490-17T>A (n.1490-17T>A)
c.1433-17T>A (n.1433-17T>A)
c.-68-17T>A (n.-68-17T>A)
c.1481-17T>A (n.1481-17T>A)
c.1487-17T>A (n.1487-17T>A)
c.1403-17T>A (n.1403-17T>A)
c.1331-17T>A (n.1331-17T>A)
c.626-17T>A (n.626-17T>A)
9g.137762659G>ACA2692881771EHMT1c.1502-16G>A (n.1502-16G>A)
c.1388-16G>A (n.1388-16G>A)
c.1409-16G>A (n.1409-16G>A)
c.1542-16G>A (n.1542-16G>A)
c.1447-16G>A
c.1129-16G>A
c.671-16G>A (n.671-16G>A)
c.*1237-16G>A (n.*1237-16G>A)
c.359-16G>A (n.359-16G>A)
c.194-16G>A (n.194-16G>A)
c.595-16G>A
c.1493-16G>A (n.1493-16G>A)
c.1484-16G>A (n.1484-16G>A)
c.1511-16G>A (n.1511-16G>A)
c.1508-16G>A (n.1508-16G>A)
c.1490-16G>A (n.1490-16G>A)
c.1433-16G>A (n.1433-16G>A)
c.-68-16G>A (n.-68-16G>A)
c.1481-16G>A (n.1481-16G>A)
c.1487-16G>A (n.1487-16G>A)
c.1403-16G>A (n.1403-16G>A)
c.1331-16G>A (n.1331-16G>A)
c.626-16G>A (n.626-16G>A)
 gnomAD v4
9g.137762659G>CCA1884659539EHMT1c.1502-16G>C (n.1502-16G>C)
c.1388-16G>C (n.1388-16G>C)
c.1409-16G>C (n.1409-16G>C)
c.1542-16G>C (n.1542-16G>C)
c.1447-16G>C
c.1129-16G>C
c.671-16G>C (n.671-16G>C)
c.*1237-16G>C (n.*1237-16G>C)
c.359-16G>C (n.359-16G>C)
c.194-16G>C (n.194-16G>C)
c.595-16G>C
c.1493-16G>C (n.1493-16G>C)
c.1484-16G>C (n.1484-16G>C)
c.1511-16G>C (n.1511-16G>C)
c.1508-16G>C (n.1508-16G>C)
c.1490-16G>C (n.1490-16G>C)
c.1433-16G>C (n.1433-16G>C)
c.-68-16G>C (n.-68-16G>C)
c.1481-16G>C (n.1481-16G>C)
c.1487-16G>C (n.1487-16G>C)
c.1403-16G>C (n.1403-16G>C)
c.1331-16G>C (n.1331-16G>C)
c.626-16G>C (n.626-16G>C)
 dbSNP
9g.137762659G=CA1884659538EHMT1c.1502-16G= (n.1502-16G=)
c.1388-16G= (n.1388-16G=)
c.1409-16G= (n.1409-16G=)
c.1542-16G= (n.1542-16G=)
c.1447-16G=
c.1129-16G=
c.671-16G= (n.671-16G=)
c.*1237-16G= (n.*1237-16G=)
c.359-16G= (n.359-16G=)
c.194-16G= (n.194-16G=)
c.595-16G=
c.1493-16G= (n.1493-16G=)
c.1484-16G= (n.1484-16G=)
c.1511-16G= (n.1511-16G=)
c.1508-16G= (n.1508-16G=)
c.1490-16G= (n.1490-16G=)
c.1433-16G= (n.1433-16G=)
c.-68-16G= (n.-68-16G=)
c.1481-16G= (n.1481-16G=)
c.1487-16G= (n.1487-16G=)
c.1403-16G= (n.1403-16G=)
c.1331-16G= (n.1331-16G=)
c.626-16G= (n.626-16G=)
9g.137762663G>ACA5374651EHMT1c.1502-12G>A (n.1502-12G>A)
c.1388-12G>A (n.1388-12G>A)
c.1409-12G>A (n.1409-12G>A)
c.1542-12G>A (n.1542-12G>A)
c.1447-12G>A
c.1129-12G>A
c.671-12G>A (n.671-12G>A)
c.*1237-12G>A (n.*1237-12G>A)
c.359-12G>A (n.359-12G>A)
c.194-12G>A (n.194-12G>A)
c.595-12G>A
c.1493-12G>A (n.1493-12G>A)
c.1484-12G>A (n.1484-12G>A)
c.1511-12G>A (n.1511-12G>A)
c.1508-12G>A (n.1508-12G>A)
c.1490-12G>A (n.1490-12G>A)
c.1433-12G>A (n.1433-12G>A)
c.-68-12G>A (n.-68-12G>A)
c.1481-12G>A (n.1481-12G>A)
c.1487-12G>A (n.1487-12G>A)
c.1403-12G>A (n.1403-12G>A)
c.1331-12G>A (n.1331-12G>A)
c.626-12G>A (n.626-12G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137762663G=CA1884659540EHMT1c.1502-12G= (n.1502-12G=)
c.1388-12G= (n.1388-12G=)
c.1409-12G= (n.1409-12G=)
c.1542-12G= (n.1542-12G=)
c.1447-12G=
c.1129-12G=
c.671-12G= (n.671-12G=)
c.*1237-12G= (n.*1237-12G=)
c.359-12G= (n.359-12G=)
c.194-12G= (n.194-12G=)
c.595-12G=
c.1493-12G= (n.1493-12G=)
c.1484-12G= (n.1484-12G=)
c.1511-12G= (n.1511-12G=)
c.1508-12G= (n.1508-12G=)
c.1490-12G= (n.1490-12G=)
c.1433-12G= (n.1433-12G=)
c.-68-12G= (n.-68-12G=)
c.1481-12G= (n.1481-12G=)
c.1487-12G= (n.1487-12G=)
c.1403-12G= (n.1403-12G=)
c.1331-12G= (n.1331-12G=)
c.626-12G= (n.626-12G=)
9g.137762663G>TCA2692881772EHMT1c.1502-12G>T (n.1502-12G>T)
c.1388-12G>T (n.1388-12G>T)
c.1409-12G>T (n.1409-12G>T)
c.1542-12G>T (n.1542-12G>T)
c.1447-12G>T
c.1129-12G>T
c.671-12G>T (n.671-12G>T)
c.*1237-12G>T (n.*1237-12G>T)
c.359-12G>T (n.359-12G>T)
c.194-12G>T (n.194-12G>T)
c.595-12G>T
c.1493-12G>T (n.1493-12G>T)
c.1484-12G>T (n.1484-12G>T)
c.1511-12G>T (n.1511-12G>T)
c.1508-12G>T (n.1508-12G>T)
c.1490-12G>T (n.1490-12G>T)
c.1433-12G>T (n.1433-12G>T)
c.-68-12G>T (n.-68-12G>T)
c.1481-12G>T (n.1481-12G>T)
c.1487-12G>T (n.1487-12G>T)
c.1403-12G>T (n.1403-12G>T)
c.1331-12G>T (n.1331-12G>T)
c.626-12G>T (n.626-12G>T)
 gnomAD v4
9g.137762665G>TCA2579536152EHMT1c.1502-10G>T (n.1502-10G>T)
c.1388-10G>T (n.1388-10G>T)
c.1409-10G>T (n.1409-10G>T)
c.1542-10G>T (n.1542-10G>T)
c.1447-10G>T
c.1129-10G>T
c.671-10G>T (n.671-10G>T)
c.*1237-10G>T (n.*1237-10G>T)
c.359-10G>T (n.359-10G>T)
c.194-10G>T (n.194-10G>T)
c.595-10G>T
c.1493-10G>T (n.1493-10G>T)
c.1484-10G>T (n.1484-10G>T)
c.1511-10G>T (n.1511-10G>T)
c.1508-10G>T (n.1508-10G>T)
c.1490-10G>T (n.1490-10G>T)
c.1433-10G>T (n.1433-10G>T)
c.-68-10G>T (n.-68-10G>T)
c.1481-10G>T (n.1481-10G>T)
c.1487-10G>T (n.1487-10G>T)
c.1403-10G>T (n.1403-10G>T)
c.1331-10G>T (n.1331-10G>T)
c.626-10G>T (n.626-10G>T)
9g.137762667G>ACA2692881773EHMT1c.1502-8G>A (n.1502-8G>A)
c.1388-8G>A (n.1388-8G>A)
c.1409-8G>A (n.1409-8G>A)
c.1542-8G>A (n.1542-8G>A)
c.1447-8G>A
c.1129-8G>A
c.671-8G>A (n.671-8G>A)
c.*1237-8G>A (n.*1237-8G>A)
c.359-8G>A (n.359-8G>A)
c.194-8G>A (n.194-8G>A)
c.595-8G>A
c.1493-8G>A (n.1493-8G>A)
c.1484-8G>A (n.1484-8G>A)
c.1511-8G>A (n.1511-8G>A)
c.1508-8G>A (n.1508-8G>A)
c.1490-8G>A (n.1490-8G>A)
c.1433-8G>A (n.1433-8G>A)
c.-68-8G>A (n.-68-8G>A)
c.1481-8G>A (n.1481-8G>A)
c.1487-8G>A (n.1487-8G>A)
c.1403-8G>A (n.1403-8G>A)
c.1331-8G>A (n.1331-8G>A)
c.626-8G>A (n.626-8G>A)
 gnomAD v4
9g.137762669C=CA1884659541EHMT1c.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=)
9g.137762669C>TCA591241126EHMT1c.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
9g.137762670delCA2692881774EHMT1c.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
9g.137762670G>ACA1884659543EHMT1c.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
9g.137762670G>CCA591241127EHMT1c.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
9g.137762670G=CA1884659542EHMT1c.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=)
9g.137762670G>TCA591241128EHMT1c.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
9g.137762671T>CCA1884659545EHMT1c.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
9g.137762671T=CA1884659544EHMT1c.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=)
9g.137762673A>CCA375768313EHMT1c.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)
9g.137762673A>GCA375768310EHMT1c.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
9g.137762673A>TCA375768316EHMT1c.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)
9g.137762674G>ACA375768323EHMT1c.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)
9g.137762674G>CCA375768339EHMT1c.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)
9g.137762674G>TCA375768330EHMT1c.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)
9g.137762675G>ACA375768342EHMT1c.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)
9g.137762675G>CCA375768346EHMT1c.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
9g.137762675G>TCA375768353EHMT1c.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)
9g.137762676G>ACA467873844EHMT1c.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=)
9g.137762676G>CCA467873845EHMT1c.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=)
9g.137762676G>TCA467873846EHMT1c.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=)
9g.137762677T>ACA5374652EHMT1c.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
9g.137762677T>CCA467873847EHMT1c.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
9g.137762677T>GCA375768364EHMT1c.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)
9g.137762677T=CA1884659546EHMT1c.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=)
9g.137762678T>ACA375768367EHMT1c.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)
9g.137762678T>CCA375768368EHMT1c.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
9g.137762678T>GCA375768372EHMT1c.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)
9g.137762678T=CA1884659547EHMT1c.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=)
9g.137762679G>ACA467873848EHMT1c.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=)
9g.137762679G>CCA375768374EHMT1c.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)
9g.137762679G>TCA375768375EHMT1c.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)
9g.137762680G>ACA5374653EHMT1c.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
9g.137762680G>CCA375768379EHMT1c.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)
9g.137762680G=CA1884659548EHMT1c.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=)
9g.137762680G>TCA375768387EHMT1c.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)
9g.137762681C>ACA375768397EHMT1c.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)
9g.137762681C>GCA375768403EHMT1c.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)
9g.137762681C>TCA375768401EHMT1c.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)
9g.137762682C>ACA467873849EHMT1c.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=)
9g.137762682C>GCA467873851EHMT1c.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=)
9g.137762682C>TCA467873850EHMT1c.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
9g.137762683A=CA1884659549EHMT1c.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=)
9g.137762683A>CCA375768407EHMT1c.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)
9g.137762683A>GCA375768408EHMT1c.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
9g.137762683A>TCA375768409EHMT1c.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)
9g.137762684A=CA1884659550EHMT1c.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=)
9g.137762684A>CCA375768410EHMT1c.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
9g.137762684A>GCA5374654EHMT1c.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
9g.137762684A>TCA375768427EHMT1c.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)
9g.137762685C>ACA375768432EHMT1c.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
9g.137762685C=CA1884659551EHMT1c.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=)
9g.137762685C>GCA375768434EHMT1c.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)
9g.137762685C>TCA5374655EHMT1c.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
9g.137762686G>ACA5374656EHMT1c.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
9g.137762686G>CCA375768445EHMT1c.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)
9g.137762686G=CA1884659552EHMT1c.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=)
9g.137762686G>TCA375768439EHMT1c.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)
9g.137762687G>ACA375768454EHMT1c.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)
9g.137762687G>CCA375768456EHMT1c.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)
9g.137762687G>TCA375768457EHMT1c.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
9g.137762688T>ACA467873852EHMT1c.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=)
9g.137762688T>CCA467873853EHMT1c.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=)
9g.137762688T>GCA467873854EHMT1c.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=)
9g.137762689C>ACA375768458EHMT1c.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)
9g.137762689C>GCA375768460EHMT1c.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)
9g.137762689C>TCA375768464EHMT1c.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
9g.137762690C>ACA375768467EHMT1c.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)
9g.137762690C>GCA375768470EHMT1c.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)
9g.137762690C>TCA375768473EHMT1c.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)
9g.137762691A>CCA467873857EHMT1c.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=)
9g.137762691A>GCA467873856EHMT1c.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
9g.137762691A>TCA467873855EHMT1c.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=)
9g.137762692G>ACA375768481EHMT1c.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)
9g.137762692G>CCA375768485EHMT1c.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)
9g.137762692G>TCA375768488EHMT1c.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)
9g.137762693A=CA1884659553EHMT1c.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=)
9g.137762693A>CCA375768503EHMT1c.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)
9g.137762693A>GCA5374657EHMT1c.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
9g.137762693A>TCA375768494EHMT1c.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
9g.137762694T>ACA375768508EHMT1c.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
9g.137762694T>CCA201792832EHMT1c.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
9g.137762694T>GCA375768517EHMT1c.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)
9g.137762694T=CA1884659554EHMT1c.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=)
9g.137762695G>ACA375768537EHMT1c.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)
9g.137762695G>CCA375768546EHMT1c.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)
9g.137762695G>TCA375768552EHMT1c.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)
9g.137762696T>ACA375768557EHMT1c.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)
9g.137762696T>CCA375768560EHMT1c.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)
9g.137762696T>GCA375768571EHMT1c.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)
9g.137762697G>ACA467873858EHMT1c.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
9g.137762697G>CCA467873859EHMT1c.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=)
9g.137762697G=CA1884659555EHMT1c.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=)
9g.137762697G>TCA467873860EHMT1c.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=)
9g.137762698C>ACA375768575EHMT1c.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)
9g.137762698C=CA1884659556EHMT1c.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=)
9g.137762698C>GCA375768577EHMT1c.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
9g.137762698C>TCA467873861EHMT1c.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=)
9g.137762699T>ACA375768579EHMT1c.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
9g.137762699T>CCA375768585EHMT1c.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
9g.137762699T>GCA375768599EHMT1c.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)
9g.137762700G>ACA5374658EHMT1c.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
9g.137762700G>CCA467873862EHMT1c.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=)
9g.137762700G=CA1884659557EHMT1c.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=)
9g.137762700G>TCA467873863EHMT1c.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=)
9g.137762701G>ACA375768612EHMT1c.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
9g.137762701G>CCA375768610EHMT1c.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
9g.137762701G>TCA375768613EHMT1c.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)
9g.137762701_137762705delinsGAGACCA1884659558EHMT1c.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=)
9g.137762702A=CA1884659559EHMT1c.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=)
9g.137762702A>CCA375768616EHMT1c.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
9g.137762702A>GCA375768618EHMT1c.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)
9g.137762702A>TCA375768622EHMT1c.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)
9g.137762706_137762709delCA345048EHMT1c.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
9g.137762703G>ACA467873864EHMT1c.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=)
9g.137762703G>CCA375768638EHMT1c.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)
9g.137762703G>TCA375768641EHMT1c.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)
9g.137762703_137762704insTCA2692881775EHMT1c.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
9g.137762704A>CCA375768649EHMT1c.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)
9g.137762704A>GCA375768654EHMT1c.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)
9g.137762704A>TCA375768657EHMT1c.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)
9g.137762705C>ACA375768663EHMT1c.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
9g.137762705C>GCA375768668EHMT1c.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)
9g.137762705C>TCA375768680EHMT1c.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)
9g.137762706A=CA1884659560EHMT1c.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=)
9g.137762706A>CCA467873867EHMT1c.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=)
9g.137762706A>GCA467873866EHMT1c.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
9g.137762706A>TCA467873865EHMT1c.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=)
9g.137762707G>ACA375768698EHMT1c.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)
9g.137762707G>CCA375768688EHMT1c.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
9g.137762707G=CA1884659561EHMT1c.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=)
9g.137762707G>TCA375768684EHMT1c.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
9g.137762708A>CCA375768705EHMT1c.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)
9g.137762708A>GCA375768725EHMT1c.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)
9g.137762708A>TCA375768743EHMT1c.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)
9g.137762709C>ACA375768748EHMT1c.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
9g.137762709C=CA1884659562EHMT1c.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=)
9g.137762709C>GCA375768749EHMT1c.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)
9g.137762709C>TCA5374659EHMT1c.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
9g.137762710G>ACA5374660EHMT1c.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
9g.137762710G>CCA375768751EHMT1c.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
9g.137762710G=CA1884659563EHMT1c.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=)
9g.137762710G>TCA375768753EHMT1c.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)
9g.137762710_137762723delinsGGCCTCCAGGAAGTCA1884659564EHMT1c.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=)
9g.137762711G>ACA375768755EHMT1c.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
9g.137762711G>CCA375768757EHMT1c.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)
9g.137762711G>TCA375768762EHMT1c.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)
9g.137762716_137762728delCA1139661357EHMT1c.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
9g.137762712C>ACA467873868EHMT1c.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=)
9g.137762712C>GCA467873869EHMT1c.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=)
9g.137762712C>TCA467873870EHMT1c.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=)
9g.137762713C>ACA375768788EHMT1c.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
9g.137762713C=CA1884659565EHMT1c.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=)
9g.137762713C>GCA5374661EHMT1c.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
9g.137762713C>TCA201792860EHMT1c.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
9g.137762714T>ACA375768796EHMT1c.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)
9g.137762714T>CCA375768810EHMT1c.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)
9g.137762714T>GCA375768820EHMT1c.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)
9g.137762715C>ACA467873871EHMT1c.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
9g.137762715C=CA1884659566EHMT1c.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=)
9g.137762715C>GCA467873872EHMT1c.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=)
9g.137762715C>TCA467873873EHMT1c.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
9g.137762716C>ACA375768826EHMT1c.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)
9g.137762716C=CA1884659567EHMT1c.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=)
9g.137762716C>GCA375768831EHMT1c.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)
9g.137762716C>TCA375768832EHMT1c.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
9g.137762717A>CCA375768845EHMT1c.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)
9g.137762717A>GCA375768836EHMT1c.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
9g.137762717A>TCA375768840EHMT1c.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)
9g.137762718G>ACA467873874EHMT1c.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=)
9g.137762718G>CCA375768850EHMT1c.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)
9g.137762718G>TCA375768853EHMT1c.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)
9g.137762719G>ACA5374662EHMT1c.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
9g.137762719G>CCA375768865EHMT1c.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)
9g.137762719G=CA1884659568EHMT1c.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=)
9g.137762719G>TCA375768868EHMT1c.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)
9g.137762720A>CCA375768872EHMT1c.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)
9g.137762720A>GCA375768883EHMT1c.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)
9g.137762720A>TCA375768880EHMT1c.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)
9g.137762721A>CCA375768893EHMT1c.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)
9g.137762721A>GCA467873875EHMT1c.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
9g.137762721A>TCA375768898EHMT1c.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)
9g.137762722G>ACA375768901EHMT1c.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
9g.137762722G>CCA375768913EHMT1c.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)
9g.137762722G=CA1884659569EHMT1c.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=)
9g.137762722G>TCA375768918EHMT1c.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)
9g.137762723T>ACA375768921EHMT1c.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)
9g.137762723T>CCA375768927EHMT1c.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)
9g.137762723T>GCA375768932EHMT1c.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)
9g.137762724G>ACA467873876EHMT1c.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=)
9g.137762724G>CCA467873878EHMT1c.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=)
9g.137762724G>TCA467873877EHMT1c.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=)
9g.137762725C>ACA375768935EHMT1c.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)
9g.137762725C>GCA375768938EHMT1c.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)
9g.137762725C>TCA375768940EHMT1c.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)
9g.137762726C>ACA375768962EHMT1c.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)
9g.137762726C=CA1884659570EHMT1c.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=)
9g.137762726C>GCA375768965EHMT1c.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
9g.137762726C>TCA375768945EHMT1c.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
9g.137762727T>ACA467873879EHMT1c.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=)
9g.137762727T>CCA467873880EHMT1c.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=)
9g.137762727T>GCA467873881EHMT1c.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=)
9g.137762728C>ACA375768973EHMT1c.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)
9g.137762728C>GCA375768971EHMT1c.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
9g.137762728C>TCA375768972EHMT1c.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)
9g.137762729T>ACA375768975EHMT1c.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)
9g.137762729T>CCA375768983EHMT1c.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)
9g.137762729T>GCA375768989EHMT1c.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)
9g.137762730C>ACA467873882EHMT1c.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=)
9g.137762730C=CA1884659571EHMT1c.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=)
9g.137762730C>GCA467873883EHMT1c.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
9g.137762730C>TCA467873884EHMT1c.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
9g.137762731T>ACA375768992EHMT1c.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)
9g.137762731T>CCA375768995EHMT1c.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)
9g.137762731T>GCA375769003EHMT1c.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)
9g.137762732G>ACA375769016EHMT1c.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)
9g.137762732G>CCA375769018EHMT1c.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)
9g.137762732G>TCA375769020EHMT1c.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)
9g.137762733C>ACA375769023EHMT1c.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)
9g.137762733C>GCA375769024EHMT1c.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)
9g.137762733C>TCA467873885EHMT1c.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=)
9g.137762734A>CCA375769032EHMT1c.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)
9g.137762734A>GCA375769034EHMT1c.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)
9g.137762734A>TCA375769027EHMT1c.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)
9g.137762735G>ACA375769035EHMT1c.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)
9g.137762735G>CCA375769036EHMT1c.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)
9g.137762735G>TCA375769037EHMT1c.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)

Number of alleles fetched