Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.137757923_137757935delCA340100EHMT1c.1413_1425del (p.Pro473GlnfsTer?)
c.1299_1311del (p.Pro435GlnfsTer?)
c.1320_1332del (p.Pro442GlnfsTer?)
c.1453_1465del (n.1453_1465del)
c.1358_1370del
c.1040_1052del
c.582_594del (p.Pro196GlnfsTer?)
c.*1148_*1160del (n.*1148_*1160del)
c.270_282del (p.Pro92GlnfsTer?)
c.105_117del (p.Pro37GlnfsTer?)
c.506_518del
c.1404_1416del (p.Pro470GlnfsTer?)
c.1395_1407del (p.Pro467GlnfsTer?)
c.1422_1434del (p.Pro476GlnfsTer?)
c.1419_1431del (p.Pro475GlnfsTer?)
c.1401_1413del (p.Pro469GlnfsTer?)
c.1344_1356del (p.Pro450GlnfsTer?)
c.1392_1404del (p.Pro466GlnfsTer?)
c.1398_1410del (p.Pro468GlnfsTer?)
c.1314_1326del (p.Pro440GlnfsTer?)
c.1242_1254del (p.Pro416GlnfsTer?)
c.537_549del (p.Pro181GlnfsTer?)
 ClinVar dbSNP
9g.137757932A>CCA467873784EHMT1c.1422A>C (p.Gly474=)
c.1308A>C (p.Gly436=)
c.1329A>C (p.Gly443=)
c.1462A>C (n.1462A>C)
c.1367A>C
c.1049A>C
c.591A>C (p.Gly197=)
c.*1157A>C (n.*1157A>C)
c.279A>C (p.Gly93=)
c.114A>C (p.Gly38=)
c.515A>C
c.1413A>C (p.Gly471=)
c.1404A>C (p.Gly468=)
c.1431A>C (p.Gly477=)
c.1428A>C (p.Gly476=)
c.1410A>C (p.Gly470=)
c.1353A>C (p.Gly451=)
c.1401A>C (p.Gly467=)
c.1407A>C (p.Gly469=)
c.1323A>C (p.Gly441=)
c.1251A>C (p.Gly417=)
c.546A>C (p.Gly182=)
9g.137757932A>GCA467873785EHMT1c.1422A>G (p.Gly474=)
c.1308A>G (p.Gly436=)
c.1329A>G (p.Gly443=)
c.1462A>G (n.1462A>G)
c.1367A>G
c.1049A>G
c.591A>G (p.Gly197=)
c.*1157A>G (n.*1157A>G)
c.279A>G (p.Gly93=)
c.114A>G (p.Gly38=)
c.515A>G
c.1413A>G (p.Gly471=)
c.1404A>G (p.Gly468=)
c.1431A>G (p.Gly477=)
c.1428A>G (p.Gly476=)
c.1410A>G (p.Gly470=)
c.1353A>G (p.Gly451=)
c.1401A>G (p.Gly467=)
c.1407A>G (p.Gly469=)
c.1323A>G (p.Gly441=)
c.1251A>G (p.Gly417=)
c.546A>G (p.Gly182=)
9g.137757932A>TCA467873786EHMT1c.1422A>T (p.Gly474=)
c.1308A>T (p.Gly436=)
c.1329A>T (p.Gly443=)
c.1462A>T (n.1462A>T)
c.1367A>T
c.1049A>T
c.591A>T (p.Gly197=)
c.*1157A>T (n.*1157A>T)
c.279A>T (p.Gly93=)
c.114A>T (p.Gly38=)
c.515A>T
c.1413A>T (p.Gly471=)
c.1404A>T (p.Gly468=)
c.1431A>T (p.Gly477=)
c.1428A>T (p.Gly476=)
c.1410A>T (p.Gly470=)
c.1353A>T (p.Gly451=)
c.1401A>T (p.Gly467=)
c.1407A>T (p.Gly469=)
c.1323A>T (p.Gly441=)
c.1251A>T (p.Gly417=)
c.546A>T (p.Gly182=)
9g.137757933G>ACA5374620EHMT1c.1423G>A (p.Asp475Asn)
c.1309G>A (p.Asp437Asn)
c.1330G>A (p.Asp444Asn)
c.1463G>A (n.1463G>A)
c.1368G>A
c.1050G>A
c.592G>A (p.Asp198Asn)
c.*1158G>A (n.*1158G>A)
c.280G>A (p.Asp94Asn)
c.115G>A (p.Asp39Asn)
c.516G>A
c.1414G>A (p.Asp472Asn)
c.1405G>A (p.Asp469Asn)
c.1432G>A (p.Asp478Asn)
c.1429G>A (p.Asp477Asn)
c.1411G>A (p.Asp471Asn)
c.1354G>A (p.Asp452Asn)
c.1402G>A (p.Asp468Asn)
c.1408G>A (p.Asp470Asn)
c.1324G>A (p.Asp442Asn)
c.1252G>A (p.Asp418Asn)
c.547G>A (p.Asp183Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137757933G>CCA375765978EHMT1c.1423G>C (p.Asp475His)
c.1309G>C (p.Asp437His)
c.1330G>C (p.Asp444His)
c.1463G>C (n.1463G>C)
c.1368G>C
c.1050G>C
c.592G>C (p.Asp198His)
c.*1158G>C (n.*1158G>C)
c.280G>C (p.Asp94His)
c.115G>C (p.Asp39His)
c.516G>C
c.1414G>C (p.Asp472His)
c.1405G>C (p.Asp469His)
c.1432G>C (p.Asp478His)
c.1429G>C (p.Asp477His)
c.1411G>C (p.Asp471His)
c.1354G>C (p.Asp452His)
c.1402G>C (p.Asp468His)
c.1408G>C (p.Asp470His)
c.1324G>C (p.Asp442His)
c.1252G>C (p.Asp418His)
c.547G>C (p.Asp183His)
9g.137757933G=CA1884657125EHMT1c.1423G= (p.Asp475=)
c.1309G= (p.Asp437=)
c.1330G= (p.Asp444=)
c.1463G= (n.1463G=)
c.1368G=
c.1050G=
c.592G= (p.Asp198=)
c.*1158G= (n.*1158G=)
c.280G= (p.Asp94=)
c.115G= (p.Asp39=)
c.516G=
c.1414G= (p.Asp472=)
c.1405G= (p.Asp469=)
c.1432G= (p.Asp478=)
c.1429G= (p.Asp477=)
c.1411G= (p.Asp471=)
c.1354G= (p.Asp452=)
c.1402G= (p.Asp468=)
c.1408G= (p.Asp470=)
c.1324G= (p.Asp442=)
c.1252G= (p.Asp418=)
c.547G= (p.Asp183=)
9g.137757933G>TCA375765979EHMT1c.1423G>T (p.Asp475Tyr)
c.1309G>T (p.Asp437Tyr)
c.1330G>T (p.Asp444Tyr)
c.1463G>T (n.1463G>T)
c.1368G>T
c.1050G>T
c.592G>T (p.Asp198Tyr)
c.*1158G>T (n.*1158G>T)
c.280G>T (p.Asp94Tyr)
c.115G>T (p.Asp39Tyr)
c.516G>T
c.1414G>T (p.Asp472Tyr)
c.1405G>T (p.Asp469Tyr)
c.1432G>T (p.Asp478Tyr)
c.1429G>T (p.Asp477Tyr)
c.1411G>T (p.Asp471Tyr)
c.1354G>T (p.Asp452Tyr)
c.1402G>T (p.Asp468Tyr)
c.1408G>T (p.Asp470Tyr)
c.1324G>T (p.Asp442Tyr)
c.1252G>T (p.Asp418Tyr)
c.547G>T (p.Asp183Tyr)
9g.137757934A>CCA375765980EHMT1c.1424A>C (p.Asp475Ala)
c.1310A>C (p.Asp437Ala)
c.1331A>C (p.Asp444Ala)
c.1464A>C (n.1464A>C)
c.1369A>C
c.1051A>C
c.593A>C (p.Asp198Ala)
c.*1159A>C (n.*1159A>C)
c.281A>C (p.Asp94Ala)
c.116A>C (p.Asp39Ala)
c.517A>C
c.1415A>C (p.Asp472Ala)
c.1406A>C (p.Asp469Ala)
c.1433A>C (p.Asp478Ala)
c.1430A>C (p.Asp477Ala)
c.1412A>C (p.Asp471Ala)
c.1355A>C (p.Asp452Ala)
c.1403A>C (p.Asp468Ala)
c.1409A>C (p.Asp470Ala)
c.1325A>C (p.Asp442Ala)
c.1253A>C (p.Asp418Ala)
c.548A>C (p.Asp183Ala)
9g.137757934A>GCA375765984EHMT1c.1424A>G (p.Asp475Gly)
c.1310A>G (p.Asp437Gly)
c.1331A>G (p.Asp444Gly)
c.1464A>G (n.1464A>G)
c.1369A>G
c.1051A>G
c.593A>G (p.Asp198Gly)
c.*1159A>G (n.*1159A>G)
c.281A>G (p.Asp94Gly)
c.116A>G (p.Asp39Gly)
c.517A>G
c.1415A>G (p.Asp472Gly)
c.1406A>G (p.Asp469Gly)
c.1433A>G (p.Asp478Gly)
c.1430A>G (p.Asp477Gly)
c.1412A>G (p.Asp471Gly)
c.1355A>G (p.Asp452Gly)
c.1403A>G (p.Asp468Gly)
c.1409A>G (p.Asp470Gly)
c.1325A>G (p.Asp442Gly)
c.1253A>G (p.Asp418Gly)
c.548A>G (p.Asp183Gly)
 gnomAD v4
9g.137757934A>TCA375765987EHMT1c.1424A>T (p.Asp475Val)
c.1310A>T (p.Asp437Val)
c.1331A>T (p.Asp444Val)
c.1464A>T (n.1464A>T)
c.1369A>T
c.1051A>T
c.593A>T (p.Asp198Val)
c.*1159A>T (n.*1159A>T)
c.281A>T (p.Asp94Val)
c.116A>T (p.Asp39Val)
c.517A>T
c.1415A>T (p.Asp472Val)
c.1406A>T (p.Asp469Val)
c.1433A>T (p.Asp478Val)
c.1430A>T (p.Asp477Val)
c.1412A>T (p.Asp471Val)
c.1355A>T (p.Asp452Val)
c.1403A>T (p.Asp468Val)
c.1409A>T (p.Asp470Val)
c.1325A>T (p.Asp442Val)
c.1253A>T (p.Asp418Val)
c.548A>T (p.Asp183Val)
9g.137757935C>ACA375765991EHMT1c.1425C>A (p.Asp475Glu)
c.1311C>A (p.Asp437Glu)
c.1332C>A (p.Asp444Glu)
c.1465C>A (n.1465C>A)
c.1370C>A
c.1052C>A
c.594C>A (p.Asp198Glu)
c.*1160C>A (n.*1160C>A)
c.282C>A (p.Asp94Glu)
c.117C>A (p.Asp39Glu)
c.518C>A
c.1416C>A (p.Asp472Glu)
c.1407C>A (p.Asp469Glu)
c.1434C>A (p.Asp478Glu)
c.1431C>A (p.Asp477Glu)
c.1413C>A (p.Asp471Glu)
c.1356C>A (p.Asp452Glu)
c.1404C>A (p.Asp468Glu)
c.1410C>A (p.Asp470Glu)
c.1326C>A (p.Asp442Glu)
c.1254C>A (p.Asp418Glu)
c.549C>A (p.Asp183Glu)
9g.137757935C=CA1884657126EHMT1c.1425C= (p.Asp475=)
c.1311C= (p.Asp437=)
c.1332C= (p.Asp444=)
c.1465C= (n.1465C=)
c.1370C=
c.1052C=
c.594C= (p.Asp198=)
c.*1160C= (n.*1160C=)
c.282C= (p.Asp94=)
c.117C= (p.Asp39=)
c.518C=
c.1416C= (p.Asp472=)
c.1407C= (p.Asp469=)
c.1434C= (p.Asp478=)
c.1431C= (p.Asp477=)
c.1413C= (p.Asp471=)
c.1356C= (p.Asp452=)
c.1404C= (p.Asp468=)
c.1410C= (p.Asp470=)
c.1326C= (p.Asp442=)
c.1254C= (p.Asp418=)
c.549C= (p.Asp183=)
9g.137757935C>GCA375765998EHMT1c.1425C>G (p.Asp475Glu)
c.1311C>G (p.Asp437Glu)
c.1332C>G (p.Asp444Glu)
c.1465C>G (n.1465C>G)
c.1370C>G
c.1052C>G
c.594C>G (p.Asp198Glu)
c.*1160C>G (n.*1160C>G)
c.282C>G (p.Asp94Glu)
c.117C>G (p.Asp39Glu)
c.518C>G
c.1416C>G (p.Asp472Glu)
c.1407C>G (p.Asp469Glu)
c.1434C>G (p.Asp478Glu)
c.1431C>G (p.Asp477Glu)
c.1413C>G (p.Asp471Glu)
c.1356C>G (p.Asp452Glu)
c.1404C>G (p.Asp468Glu)
c.1410C>G (p.Asp470Glu)
c.1326C>G (p.Asp442Glu)
c.1254C>G (p.Asp418Glu)
c.549C>G (p.Asp183Glu)
9g.137757935C>TCA248232EHMT1c.1425C>T (p.Asp475=)
c.1311C>T (p.Asp437=)
c.1332C>T (p.Asp444=)
c.1465C>T (n.1465C>T)
c.1370C>T
c.1052C>T
c.594C>T (p.Asp198=)
c.*1160C>T (n.*1160C>T)
c.282C>T (p.Asp94=)
c.117C>T (p.Asp39=)
c.518C>T
c.1416C>T (p.Asp472=)
c.1407C>T (p.Asp469=)
c.1434C>T (p.Asp478=)
c.1431C>T (p.Asp477=)
c.1413C>T (p.Asp471=)
c.1356C>T (p.Asp452=)
c.1404C>T (p.Asp468=)
c.1410C>T (p.Asp470=)
c.1326C>T (p.Asp442=)
c.1254C>T (p.Asp418=)
c.549C>T (p.Asp183=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
9g.137757935_137757936insTGTCA2692881618EHMT1c.1425_1426insTGT (p.Asp475_Ser476insCys)
c.1311_1312insTGT (p.Asp437_Ser438insCys)
c.1332_1333insTGT (p.Asp444_Ser445insCys)
c.1465_1466insTGT (n.1465_1466insTGT)
c.1370_1371insTGT
c.1052_1053insTGT
c.594_595insTGT (p.Asp198_Ser199insCys)
c.*1160_*1161insTGT (n.*1160_*1161insTGT)
c.282_283insTGT (p.Asp94_Ser95insCys)
c.117_118insTGT (p.Asp39_Ser40insCys)
c.518_519insTGT
c.1416_1417insTGT (p.Asp472_Ser473insCys)
c.1407_1408insTGT (p.Asp469_Ser470insCys)
c.1434_1435insTGT (p.Asp478_Ser479insCys)
c.1431_1432insTGT (p.Asp477_Ser478insCys)
c.1413_1414insTGT (p.Asp471_Ser472insCys)
c.1356_1357insTGT (p.Asp452_Ser453insCys)
c.1404_1405insTGT (p.Asp468_Ser469insCys)
c.1410_1411insTGT (p.Asp470_Ser471insCys)
c.1326_1327insTGT (p.Asp442_Ser443insCys)
c.1254_1255insTGT (p.Asp418_Ser419insCys)
c.549_550insTGT (p.Asp183_Ser184insCys)
 gnomAD v4
9g.137757936A>CCA375766008EHMT1c.1426A>C (p.Ser476Arg)
c.1312A>C (p.Ser438Arg)
c.1333A>C (p.Ser445Arg)
c.1466A>C (n.1466A>C)
c.1371A>C
c.1053A>C
c.595A>C (p.Ser199Arg)
c.*1161A>C (n.*1161A>C)
c.283A>C (p.Ser95Arg)
c.118A>C (p.Ser40Arg)
c.519A>C
c.1417A>C (p.Ser473Arg)
c.1408A>C (p.Ser470Arg)
c.1435A>C (p.Ser479Arg)
c.1432A>C (p.Ser478Arg)
c.1414A>C (p.Ser472Arg)
c.1357A>C (p.Ser453Arg)
c.1405A>C (p.Ser469Arg)
c.1411A>C (p.Ser471Arg)
c.1327A>C (p.Ser443Arg)
c.1255A>C (p.Ser419Arg)
c.550A>C (p.Ser184Arg)
 gnomAD v4
9g.137757936A>GCA375766023EHMT1c.1426A>G (p.Ser476Gly)
c.1312A>G (p.Ser438Gly)
c.1333A>G (p.Ser445Gly)
c.1466A>G (n.1466A>G)
c.1371A>G
c.1053A>G
c.595A>G (p.Ser199Gly)
c.*1161A>G (n.*1161A>G)
c.283A>G (p.Ser95Gly)
c.118A>G (p.Ser40Gly)
c.519A>G
c.1417A>G (p.Ser473Gly)
c.1408A>G (p.Ser470Gly)
c.1435A>G (p.Ser479Gly)
c.1432A>G (p.Ser478Gly)
c.1414A>G (p.Ser472Gly)
c.1357A>G (p.Ser453Gly)
c.1405A>G (p.Ser469Gly)
c.1411A>G (p.Ser471Gly)
c.1327A>G (p.Ser443Gly)
c.1255A>G (p.Ser419Gly)
c.550A>G (p.Ser184Gly)
 gnomAD v4
9g.137757936A>TCA375766024EHMT1c.1426A>T (p.Ser476Cys)
c.1312A>T (p.Ser438Cys)
c.1333A>T (p.Ser445Cys)
c.1466A>T (n.1466A>T)
c.1371A>T
c.1053A>T
c.595A>T (p.Ser199Cys)
c.*1161A>T (n.*1161A>T)
c.283A>T (p.Ser95Cys)
c.118A>T (p.Ser40Cys)
c.519A>T
c.1417A>T (p.Ser473Cys)
c.1408A>T (p.Ser470Cys)
c.1435A>T (p.Ser479Cys)
c.1432A>T (p.Ser478Cys)
c.1414A>T (p.Ser472Cys)
c.1357A>T (p.Ser453Cys)
c.1405A>T (p.Ser469Cys)
c.1411A>T (p.Ser471Cys)
c.1327A>T (p.Ser443Cys)
c.1255A>T (p.Ser419Cys)
c.550A>T (p.Ser184Cys)
9g.137757937G>ACA375766027EHMT1c.1427G>A (p.Ser476Asn)
c.1313G>A (p.Ser438Asn)
c.1334G>A (p.Ser445Asn)
c.1467G>A (n.1467G>A)
c.1372G>A
c.1054G>A
c.596G>A (p.Ser199Asn)
c.*1162G>A (n.*1162G>A)
c.284G>A (p.Ser95Asn)
c.119G>A (p.Ser40Asn)
c.520G>A
c.1418G>A (p.Ser473Asn)
c.1409G>A (p.Ser470Asn)
c.1436G>A (p.Ser479Asn)
c.1433G>A (p.Ser478Asn)
c.1415G>A (p.Ser472Asn)
c.1358G>A (p.Ser453Asn)
c.1406G>A (p.Ser469Asn)
c.1412G>A (p.Ser471Asn)
c.1328G>A (p.Ser443Asn)
c.1256G>A (p.Ser419Asn)
c.551G>A (p.Ser184Asn)
 dbSNP
9g.137757937G>CCA375766026EHMT1c.1427G>C (p.Ser476Thr)
c.1313G>C (p.Ser438Thr)
c.1334G>C (p.Ser445Thr)
c.1467G>C (n.1467G>C)
c.1372G>C
c.1054G>C
c.596G>C (p.Ser199Thr)
c.*1162G>C (n.*1162G>C)
c.284G>C (p.Ser95Thr)
c.119G>C (p.Ser40Thr)
c.520G>C
c.1418G>C (p.Ser473Thr)
c.1409G>C (p.Ser470Thr)
c.1436G>C (p.Ser479Thr)
c.1433G>C (p.Ser478Thr)
c.1415G>C (p.Ser472Thr)
c.1358G>C (p.Ser453Thr)
c.1406G>C (p.Ser469Thr)
c.1412G>C (p.Ser471Thr)
c.1328G>C (p.Ser443Thr)
c.1256G>C (p.Ser419Thr)
c.551G>C (p.Ser184Thr)
9g.137757937G=CA1884657127EHMT1c.1427G= (p.Ser476=)
c.1313G= (p.Ser438=)
c.1334G= (p.Ser445=)
c.1467G= (n.1467G=)
c.1372G=
c.1054G=
c.596G= (p.Ser199=)
c.*1162G= (n.*1162G=)
c.284G= (p.Ser95=)
c.119G= (p.Ser40=)
c.520G=
c.1418G= (p.Ser473=)
c.1409G= (p.Ser470=)
c.1436G= (p.Ser479=)
c.1433G= (p.Ser478=)
c.1415G= (p.Ser472=)
c.1358G= (p.Ser453=)
c.1406G= (p.Ser469=)
c.1412G= (p.Ser471=)
c.1328G= (p.Ser443=)
c.1256G= (p.Ser419=)
c.551G= (p.Ser184=)
9g.137757937G>TCA375766025EHMT1c.1427G>T (p.Ser476Ile)
c.1313G>T (p.Ser438Ile)
c.1334G>T (p.Ser445Ile)
c.1467G>T (n.1467G>T)
c.1372G>T
c.1054G>T
c.596G>T (p.Ser199Ile)
c.*1162G>T (n.*1162G>T)
c.284G>T (p.Ser95Ile)
c.119G>T (p.Ser40Ile)
c.520G>T
c.1418G>T (p.Ser473Ile)
c.1409G>T (p.Ser470Ile)
c.1436G>T (p.Ser479Ile)
c.1433G>T (p.Ser478Ile)
c.1415G>T (p.Ser472Ile)
c.1358G>T (p.Ser453Ile)
c.1406G>T (p.Ser469Ile)
c.1412G>T (p.Ser471Ile)
c.1328G>T (p.Ser443Ile)
c.1256G>T (p.Ser419Ile)
c.551G>T (p.Ser184Ile)
9g.137757938C>ACA375766032EHMT1c.1428C>A (p.Ser476Arg)
c.1314C>A (p.Ser438Arg)
c.1335C>A (p.Ser445Arg)
c.1468C>A (n.1468C>A)
c.1373C>A
c.1055C>A
c.597C>A (p.Ser199Arg)
c.*1163C>A (n.*1163C>A)
c.285C>A (p.Ser95Arg)
c.120C>A (p.Ser40Arg)
c.521C>A
c.1419C>A (p.Ser473Arg)
c.1410C>A (p.Ser470Arg)
c.1437C>A (p.Ser479Arg)
c.1434C>A (p.Ser478Arg)
c.1416C>A (p.Ser472Arg)
c.1359C>A (p.Ser453Arg)
c.1407C>A (p.Ser469Arg)
c.1413C>A (p.Ser471Arg)
c.1329C>A (p.Ser443Arg)
c.1257C>A (p.Ser419Arg)
c.552C>A (p.Ser184Arg)
9g.137757938C=CA1884657128EHMT1c.1428C= (p.Ser476=)
c.1314C= (p.Ser438=)
c.1335C= (p.Ser445=)
c.1468C= (n.1468C=)
c.1373C=
c.1055C=
c.597C= (p.Ser199=)
c.*1163C= (n.*1163C=)
c.285C= (p.Ser95=)
c.120C= (p.Ser40=)
c.521C=
c.1419C= (p.Ser473=)
c.1410C= (p.Ser470=)
c.1437C= (p.Ser479=)
c.1434C= (p.Ser478=)
c.1416C= (p.Ser472=)
c.1359C= (p.Ser453=)
c.1407C= (p.Ser469=)
c.1413C= (p.Ser471=)
c.1329C= (p.Ser443=)
c.1257C= (p.Ser419=)
c.552C= (p.Ser184=)
9g.137757938C>GCA375766029EHMT1c.1428C>G (p.Ser476Arg)
c.1314C>G (p.Ser438Arg)
c.1335C>G (p.Ser445Arg)
c.1468C>G (n.1468C>G)
c.1373C>G
c.1055C>G
c.597C>G (p.Ser199Arg)
c.*1163C>G (n.*1163C>G)
c.285C>G (p.Ser95Arg)
c.120C>G (p.Ser40Arg)
c.521C>G
c.1419C>G (p.Ser473Arg)
c.1410C>G (p.Ser470Arg)
c.1437C>G (p.Ser479Arg)
c.1434C>G (p.Ser478Arg)
c.1416C>G (p.Ser472Arg)
c.1359C>G (p.Ser453Arg)
c.1407C>G (p.Ser469Arg)
c.1413C>G (p.Ser471Arg)
c.1329C>G (p.Ser443Arg)
c.1257C>G (p.Ser419Arg)
c.552C>G (p.Ser184Arg)
9g.137757938C>TCA5374621EHMT1c.1428C>T (p.Ser476=)
c.1314C>T (p.Ser438=)
c.1335C>T (p.Ser445=)
c.1468C>T (n.1468C>T)
c.1373C>T
c.1055C>T
c.597C>T (p.Ser199=)
c.*1163C>T (n.*1163C>T)
c.285C>T (p.Ser95=)
c.120C>T (p.Ser40=)
c.521C>T
c.1419C>T (p.Ser473=)
c.1410C>T (p.Ser470=)
c.1437C>T (p.Ser479=)
c.1434C>T (p.Ser478=)
c.1416C>T (p.Ser472=)
c.1359C>T (p.Ser453=)
c.1407C>T (p.Ser469=)
c.1413C>T (p.Ser471=)
c.1329C>T (p.Ser443=)
c.1257C>T (p.Ser419=)
c.552C>T (p.Ser184=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137757939A>CCA375766037EHMT1c.1429A>C (p.Thr477Pro)
c.1315A>C (p.Thr439Pro)
c.1336A>C (p.Thr446Pro)
c.1469A>C (n.1469A>C)
c.1374A>C
c.1056A>C
c.598A>C (p.Thr200Pro)
c.*1164A>C (n.*1164A>C)
c.286A>C (p.Thr96Pro)
c.121A>C (p.Thr41Pro)
c.522A>C
c.1420A>C (p.Thr474Pro)
c.1411A>C (p.Thr471Pro)
c.1438A>C (p.Thr480Pro)
c.1435A>C (p.Thr479Pro)
c.1417A>C (p.Thr473Pro)
c.1360A>C (p.Thr454Pro)
c.1408A>C (p.Thr470Pro)
c.1414A>C (p.Thr472Pro)
c.1330A>C (p.Thr444Pro)
c.1258A>C (p.Thr420Pro)
c.553A>C (p.Thr185Pro)
9g.137757939A>GCA375766040EHMT1c.1429A>G (p.Thr477Ala)
c.1315A>G (p.Thr439Ala)
c.1336A>G (p.Thr446Ala)
c.1469A>G (n.1469A>G)
c.1374A>G
c.1056A>G
c.598A>G (p.Thr200Ala)
c.*1164A>G (n.*1164A>G)
c.286A>G (p.Thr96Ala)
c.121A>G (p.Thr41Ala)
c.522A>G
c.1420A>G (p.Thr474Ala)
c.1411A>G (p.Thr471Ala)
c.1438A>G (p.Thr480Ala)
c.1435A>G (p.Thr479Ala)
c.1417A>G (p.Thr473Ala)
c.1360A>G (p.Thr454Ala)
c.1408A>G (p.Thr470Ala)
c.1414A>G (p.Thr472Ala)
c.1330A>G (p.Thr444Ala)
c.1258A>G (p.Thr420Ala)
c.553A>G (p.Thr185Ala)
 gnomAD v4
9g.137757939A>TCA375766048EHMT1c.1429A>T (p.Thr477Ser)
c.1315A>T (p.Thr439Ser)
c.1336A>T (p.Thr446Ser)
c.1469A>T (n.1469A>T)
c.1374A>T
c.1056A>T
c.598A>T (p.Thr200Ser)
c.*1164A>T (n.*1164A>T)
c.286A>T (p.Thr96Ser)
c.121A>T (p.Thr41Ser)
c.522A>T
c.1420A>T (p.Thr474Ser)
c.1411A>T (p.Thr471Ser)
c.1438A>T (p.Thr480Ser)
c.1435A>T (p.Thr479Ser)
c.1417A>T (p.Thr473Ser)
c.1360A>T (p.Thr454Ser)
c.1408A>T (p.Thr470Ser)
c.1414A>T (p.Thr472Ser)
c.1330A>T (p.Thr444Ser)
c.1258A>T (p.Thr420Ser)
c.553A>T (p.Thr185Ser)
9g.137757940C>ACA375766062EHMT1c.1430C>A (p.Thr477Lys)
c.1316C>A (p.Thr439Lys)
c.1337C>A (p.Thr446Lys)
c.1470C>A (n.1470C>A)
c.1375C>A
c.1057C>A
c.599C>A (p.Thr200Lys)
c.*1165C>A (n.*1165C>A)
c.287C>A (p.Thr96Lys)
c.122C>A (p.Thr41Lys)
c.523C>A
c.1421C>A (p.Thr474Lys)
c.1412C>A (p.Thr471Lys)
c.1439C>A (p.Thr480Lys)
c.1436C>A (p.Thr479Lys)
c.1418C>A (p.Thr473Lys)
c.1361C>A (p.Thr454Lys)
c.1409C>A (p.Thr470Lys)
c.1415C>A (p.Thr472Lys)
c.1331C>A (p.Thr444Lys)
c.1259C>A (p.Thr420Lys)
c.554C>A (p.Thr185Lys)
9g.137757940C=CA1884657129EHMT1c.1430C= (p.Thr477=)
c.1316C= (p.Thr439=)
c.1337C= (p.Thr446=)
c.1470C= (n.1470C=)
c.1375C=
c.1057C=
c.599C= (p.Thr200=)
c.*1165C= (n.*1165C=)
c.287C= (p.Thr96=)
c.122C= (p.Thr41=)
c.523C=
c.1421C= (p.Thr474=)
c.1412C= (p.Thr471=)
c.1439C= (p.Thr480=)
c.1436C= (p.Thr479=)
c.1418C= (p.Thr473=)
c.1361C= (p.Thr454=)
c.1409C= (p.Thr470=)
c.1415C= (p.Thr472=)
c.1331C= (p.Thr444=)
c.1259C= (p.Thr420=)
c.554C= (p.Thr185=)
9g.137757940C>GCA375766056EHMT1c.1430C>G (p.Thr477Arg)
c.1316C>G (p.Thr439Arg)
c.1337C>G (p.Thr446Arg)
c.1470C>G (n.1470C>G)
c.1375C>G
c.1057C>G
c.599C>G (p.Thr200Arg)
c.*1165C>G (n.*1165C>G)
c.287C>G (p.Thr96Arg)
c.122C>G (p.Thr41Arg)
c.523C>G
c.1421C>G (p.Thr474Arg)
c.1412C>G (p.Thr471Arg)
c.1439C>G (p.Thr480Arg)
c.1436C>G (p.Thr479Arg)
c.1418C>G (p.Thr473Arg)
c.1361C>G (p.Thr454Arg)
c.1409C>G (p.Thr470Arg)
c.1415C>G (p.Thr472Arg)
c.1331C>G (p.Thr444Arg)
c.1259C>G (p.Thr420Arg)
c.554C>G (p.Thr185Arg)
 dbSNP gnomAD v2 gnomAD v4
9g.137757940C>TCA375766052EHMT1c.1430C>T (p.Thr477Ile)
c.1316C>T (p.Thr439Ile)
c.1337C>T (p.Thr446Ile)
c.1470C>T (n.1470C>T)
c.1375C>T
c.1057C>T
c.599C>T (p.Thr200Ile)
c.*1165C>T (n.*1165C>T)
c.287C>T (p.Thr96Ile)
c.122C>T (p.Thr41Ile)
c.523C>T
c.1421C>T (p.Thr474Ile)
c.1412C>T (p.Thr471Ile)
c.1439C>T (p.Thr480Ile)
c.1436C>T (p.Thr479Ile)
c.1418C>T (p.Thr473Ile)
c.1361C>T (p.Thr454Ile)
c.1409C>T (p.Thr470Ile)
c.1415C>T (p.Thr472Ile)
c.1331C>T (p.Thr444Ile)
c.1259C>T (p.Thr420Ile)
c.554C>T (p.Thr185Ile)
 dbSNP gnomAD v3 gnomAD v4
9g.137757941A>CCA467873787EHMT1c.1431A>C (p.Thr477=)
c.1317A>C (p.Thr439=)
c.1338A>C (p.Thr446=)
c.1471A>C (n.1471A>C)
c.1376A>C
c.1058A>C
c.600A>C (p.Thr200=)
c.*1166A>C (n.*1166A>C)
c.288A>C (p.Thr96=)
c.123A>C (p.Thr41=)
c.524A>C
c.1422A>C (p.Thr474=)
c.1413A>C (p.Thr471=)
c.1440A>C (p.Thr480=)
c.1437A>C (p.Thr479=)
c.1419A>C (p.Thr473=)
c.1362A>C (p.Thr454=)
c.1410A>C (p.Thr470=)
c.1416A>C (p.Thr472=)
c.1332A>C (p.Thr444=)
c.1260A>C (p.Thr420=)
c.555A>C (p.Thr185=)
9g.137757941A>GCA467873788EHMT1c.1431A>G (p.Thr477=)
c.1317A>G (p.Thr439=)
c.1338A>G (p.Thr446=)
c.1471A>G (n.1471A>G)
c.1376A>G
c.1058A>G
c.600A>G (p.Thr200=)
c.*1166A>G (n.*1166A>G)
c.288A>G (p.Thr96=)
c.123A>G (p.Thr41=)
c.524A>G
c.1422A>G (p.Thr474=)
c.1413A>G (p.Thr471=)
c.1440A>G (p.Thr480=)
c.1437A>G (p.Thr479=)
c.1419A>G (p.Thr473=)
c.1362A>G (p.Thr454=)
c.1410A>G (p.Thr470=)
c.1416A>G (p.Thr472=)
c.1332A>G (p.Thr444=)
c.1260A>G (p.Thr420=)
c.555A>G (p.Thr185=)
 gnomAD v4
9g.137757941A>TCA467873789EHMT1c.1431A>T (p.Thr477=)
c.1317A>T (p.Thr439=)
c.1338A>T (p.Thr446=)
c.1471A>T (n.1471A>T)
c.1376A>T
c.1058A>T
c.600A>T (p.Thr200=)
c.*1166A>T (n.*1166A>T)
c.288A>T (p.Thr96=)
c.123A>T (p.Thr41=)
c.524A>T
c.1422A>T (p.Thr474=)
c.1413A>T (p.Thr471=)
c.1440A>T (p.Thr480=)
c.1437A>T (p.Thr479=)
c.1419A>T (p.Thr473=)
c.1362A>T (p.Thr454=)
c.1410A>T (p.Thr470=)
c.1416A>T (p.Thr472=)
c.1332A>T (p.Thr444=)
c.1260A>T (p.Thr420=)
c.555A>T (p.Thr185=)
9g.137757942G>ACA5374622EHMT1c.1432G>A (p.Gly478Arg)
c.1318G>A (p.Gly440Arg)
c.1339G>A (p.Gly447Arg)
c.1472G>A (n.1472G>A)
c.1377G>A
c.1059G>A
c.601G>A (p.Gly201Arg)
c.*1167G>A (n.*1167G>A)
c.289G>A (p.Gly97Arg)
c.124G>A (p.Gly42Arg)
c.525G>A
c.1423G>A (p.Gly475Arg)
c.1414G>A (p.Gly472Arg)
c.1441G>A (p.Gly481Arg)
c.1438G>A (p.Gly480Arg)
c.1420G>A (p.Gly474Arg)
c.1363G>A (p.Gly455Arg)
c.1411G>A (p.Gly471Arg)
c.1417G>A (p.Gly473Arg)
c.1333G>A (p.Gly445Arg)
c.1261G>A (p.Gly421Arg)
c.556G>A (p.Gly186Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137757942G>CCA375766069EHMT1c.1432G>C (p.Gly478Arg)
c.1318G>C (p.Gly440Arg)
c.1339G>C (p.Gly447Arg)
c.1472G>C (n.1472G>C)
c.1377G>C
c.1059G>C
c.601G>C (p.Gly201Arg)
c.*1167G>C (n.*1167G>C)
c.289G>C (p.Gly97Arg)
c.124G>C (p.Gly42Arg)
c.525G>C
c.1423G>C (p.Gly475Arg)
c.1414G>C (p.Gly472Arg)
c.1441G>C (p.Gly481Arg)
c.1438G>C (p.Gly480Arg)
c.1420G>C (p.Gly474Arg)
c.1363G>C (p.Gly455Arg)
c.1411G>C (p.Gly471Arg)
c.1417G>C (p.Gly473Arg)
c.1333G>C (p.Gly445Arg)
c.1261G>C (p.Gly421Arg)
c.556G>C (p.Gly186Arg)
9g.137757942G=CA1884657130EHMT1c.1432G= (p.Gly478=)
c.1318G= (p.Gly440=)
c.1339G= (p.Gly447=)
c.1472G= (n.1472G=)
c.1377G=
c.1059G=
c.601G= (p.Gly201=)
c.*1167G= (n.*1167G=)
c.289G= (p.Gly97=)
c.124G= (p.Gly42=)
c.525G=
c.1423G= (p.Gly475=)
c.1414G= (p.Gly472=)
c.1441G= (p.Gly481=)
c.1438G= (p.Gly480=)
c.1420G= (p.Gly474=)
c.1363G= (p.Gly455=)
c.1411G= (p.Gly471=)
c.1417G= (p.Gly473=)
c.1333G= (p.Gly445=)
c.1261G= (p.Gly421=)
c.556G= (p.Gly186=)
9g.137757942G>TCA375766071EHMT1c.1432G>T (p.Gly478Trp)
c.1318G>T (p.Gly440Trp)
c.1339G>T (p.Gly447Trp)
c.1472G>T (n.1472G>T)
c.1377G>T
c.1059G>T
c.601G>T (p.Gly201Trp)
c.*1167G>T (n.*1167G>T)
c.289G>T (p.Gly97Trp)
c.124G>T (p.Gly42Trp)
c.525G>T
c.1423G>T (p.Gly475Trp)
c.1414G>T (p.Gly472Trp)
c.1441G>T (p.Gly481Trp)
c.1438G>T (p.Gly480Trp)
c.1420G>T (p.Gly474Trp)
c.1363G>T (p.Gly455Trp)
c.1411G>T (p.Gly471Trp)
c.1417G>T (p.Gly473Trp)
c.1333G>T (p.Gly445Trp)
c.1261G>T (p.Gly421Trp)
c.556G>T (p.Gly186Trp)
9g.137757943G>ACA5374623EHMT1c.1433G>A (p.Gly478Glu)
c.1319G>A (p.Gly440Glu)
c.1340G>A (p.Gly447Glu)
c.1473G>A (n.1473G>A)
c.1378G>A
c.1060G>A
c.602G>A (p.Gly201Glu)
c.*1168G>A (n.*1168G>A)
c.290G>A (p.Gly97Glu)
c.125G>A (p.Gly42Glu)
c.526G>A
c.1424G>A (p.Gly475Glu)
c.1415G>A (p.Gly472Glu)
c.1442G>A (p.Gly481Glu)
c.1439G>A (p.Gly480Glu)
c.1421G>A (p.Gly474Glu)
c.1364G>A (p.Gly455Glu)
c.1412G>A (p.Gly471Glu)
c.1418G>A (p.Gly473Glu)
c.1334G>A (p.Gly445Glu)
c.1262G>A (p.Gly421Glu)
c.557G>A (p.Gly186Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137757943G>CCA375766074EHMT1c.1433G>C (p.Gly478Ala)
c.1319G>C (p.Gly440Ala)
c.1340G>C (p.Gly447Ala)
c.1473G>C (n.1473G>C)
c.1378G>C
c.1060G>C
c.602G>C (p.Gly201Ala)
c.*1168G>C (n.*1168G>C)
c.290G>C (p.Gly97Ala)
c.125G>C (p.Gly42Ala)
c.526G>C
c.1424G>C (p.Gly475Ala)
c.1415G>C (p.Gly472Ala)
c.1442G>C (p.Gly481Ala)
c.1439G>C (p.Gly480Ala)
c.1421G>C (p.Gly474Ala)
c.1364G>C (p.Gly455Ala)
c.1412G>C (p.Gly471Ala)
c.1418G>C (p.Gly473Ala)
c.1334G>C (p.Gly445Ala)
c.1262G>C (p.Gly421Ala)
c.557G>C (p.Gly186Ala)
9g.137757943G=CA1884657131EHMT1c.1433G= (p.Gly478=)
c.1319G= (p.Gly440=)
c.1340G= (p.Gly447=)
c.1473G= (n.1473G=)
c.1378G=
c.1060G=
c.602G= (p.Gly201=)
c.*1168G= (n.*1168G=)
c.290G= (p.Gly97=)
c.125G= (p.Gly42=)
c.526G=
c.1424G= (p.Gly475=)
c.1415G= (p.Gly472=)
c.1442G= (p.Gly481=)
c.1439G= (p.Gly480=)
c.1421G= (p.Gly474=)
c.1364G= (p.Gly455=)
c.1412G= (p.Gly471=)
c.1418G= (p.Gly473=)
c.1334G= (p.Gly445=)
c.1262G= (p.Gly421=)
c.557G= (p.Gly186=)
9g.137757943G>TCA375766077EHMT1c.1433G>T (p.Gly478Val)
c.1319G>T (p.Gly440Val)
c.1340G>T (p.Gly447Val)
c.1473G>T (n.1473G>T)
c.1378G>T
c.1060G>T
c.602G>T (p.Gly201Val)
c.*1168G>T (n.*1168G>T)
c.290G>T (p.Gly97Val)
c.125G>T (p.Gly42Val)
c.526G>T
c.1424G>T (p.Gly475Val)
c.1415G>T (p.Gly472Val)
c.1442G>T (p.Gly481Val)
c.1439G>T (p.Gly480Val)
c.1421G>T (p.Gly474Val)
c.1364G>T (p.Gly455Val)
c.1412G>T (p.Gly471Val)
c.1418G>T (p.Gly473Val)
c.1334G>T (p.Gly445Val)
c.1262G>T (p.Gly421Val)
c.557G>T (p.Gly186Val)
9g.137757943_137757945delinsGGTCA1884657132EHMT1c.1433_1435delinsGGT (p.Gly478=)
c.1319_1321delinsGGT (p.Gly440=)
c.1340_1342delinsGGT (p.Gly447=)
c.1473_1475delinsGGT (n.1473_1475delinsGGT)
c.1378_1380delinsGGT
c.1060_1062delinsGGT
c.602_604delinsGGT (p.Gly201=)
c.*1168_*1170delinsGGT (n.*1168_*1170delinsGGT)
c.290_292delinsGGT (p.Gly97=)
c.125_127delinsGGT (p.Gly42=)
c.526_528delinsGGT
c.1424_1426delinsGGT (p.Gly475=)
c.1415_1417delinsGGT (p.Gly472=)
c.1442_1444delinsGGT (p.Gly481=)
c.1439_1441delinsGGT (p.Gly480=)
c.1421_1423delinsGGT (p.Gly474=)
c.1364_1366delinsGGT (p.Gly455=)
c.1412_1414delinsGGT (p.Gly471=)
c.1418_1420delinsGGT (p.Gly473=)
c.1334_1336delinsGGT (p.Gly445=)
c.1262_1264delinsGGT (p.Gly421=)
c.557_559delinsGGT (p.Gly186=)
9g.137757944G>ACA467873790EHMT1c.1434G>A (p.Gly478=)
c.1320G>A (p.Gly440=)
c.1341G>A (p.Gly447=)
c.1474G>A (n.1474G>A)
c.1379G>A
c.1061G>A
c.603G>A (p.Gly201=)
c.*1169G>A (n.*1169G>A)
c.291G>A (p.Gly97=)
c.126G>A (p.Gly42=)
c.527G>A
c.1425G>A (p.Gly475=)
c.1416G>A (p.Gly472=)
c.1443G>A (p.Gly481=)
c.1440G>A (p.Gly480=)
c.1422G>A (p.Gly474=)
c.1365G>A (p.Gly455=)
c.1413G>A (p.Gly471=)
c.1419G>A (p.Gly473=)
c.1335G>A (p.Gly445=)
c.1263G>A (p.Gly421=)
c.558G>A (p.Gly186=)
 gnomAD v4
9g.137757944G>CCA467873791EHMT1c.1434G>C (p.Gly478=)
c.1320G>C (p.Gly440=)
c.1341G>C (p.Gly447=)
c.1474G>C (n.1474G>C)
c.1379G>C
c.1061G>C
c.603G>C (p.Gly201=)
c.*1169G>C (n.*1169G>C)
c.291G>C (p.Gly97=)
c.126G>C (p.Gly42=)
c.527G>C
c.1425G>C (p.Gly475=)
c.1416G>C (p.Gly472=)
c.1443G>C (p.Gly481=)
c.1440G>C (p.Gly480=)
c.1422G>C (p.Gly474=)
c.1365G>C (p.Gly455=)
c.1413G>C (p.Gly471=)
c.1419G>C (p.Gly473=)
c.1335G>C (p.Gly445=)
c.1263G>C (p.Gly421=)
c.558G>C (p.Gly186=)
9g.137757944G>TCA467873792EHMT1c.1434G>T (p.Gly478=)
c.1320G>T (p.Gly440=)
c.1341G>T (p.Gly447=)
c.1474G>T (n.1474G>T)
c.1379G>T
c.1061G>T
c.603G>T (p.Gly201=)
c.*1169G>T (n.*1169G>T)
c.291G>T (p.Gly97=)
c.126G>T (p.Gly42=)
c.527G>T
c.1425G>T (p.Gly475=)
c.1416G>T (p.Gly472=)
c.1443G>T (p.Gly481=)
c.1440G>T (p.Gly480=)
c.1422G>T (p.Gly474=)
c.1365G>T (p.Gly455=)
c.1413G>T (p.Gly471=)
c.1419G>T (p.Gly473=)
c.1335G>T (p.Gly445=)
c.1263G>T (p.Gly421=)
c.558G>T (p.Gly186=)
9g.137757944_137757945delCA658797392EHMT1c.1434_1435del (p.Tyr479HisfsTer?)
c.1320_1321del (p.Tyr441HisfsTer?)
c.1341_1342del (p.Tyr448HisfsTer?)
c.1474_1475del (n.1474_1475del)
c.1379_1380del
c.1061_1062del
c.603_604del (p.Tyr202HisfsTer?)
c.*1169_*1170del (n.*1169_*1170del)
c.291_292del (p.Tyr98HisfsTer?)
c.126_127del (p.Tyr43HisfsTer?)
c.527_528del
c.1425_1426del (p.Tyr476HisfsTer?)
c.1416_1417del (p.Tyr473HisfsTer?)
c.1443_1444del (p.Tyr482HisfsTer?)
c.1440_1441del (p.Tyr481HisfsTer?)
c.1422_1423del (p.Tyr475HisfsTer?)
c.1365_1366del (p.Tyr456HisfsTer?)
c.1413_1414del (p.Tyr472HisfsTer?)
c.1419_1420del (p.Tyr474HisfsTer?)
c.1335_1336del (p.Tyr446HisfsTer?)
c.1263_1264del (p.Tyr422HisfsTer?)
c.558_559del (p.Tyr187HisfsTer?)
 ClinVar dbSNP
9g.137757945T>ACA375766082EHMT1c.1435T>A (p.Tyr479Asn)
c.1321T>A (p.Tyr441Asn)
c.1342T>A (p.Tyr448Asn)
c.1475T>A (n.1475T>A)
c.1380T>A
c.1062T>A
c.604T>A (p.Tyr202Asn)
c.*1170T>A (n.*1170T>A)
c.292T>A (p.Tyr98Asn)
c.127T>A (p.Tyr43Asn)
c.528T>A
c.1426T>A (p.Tyr476Asn)
c.1417T>A (p.Tyr473Asn)
c.1444T>A (p.Tyr482Asn)
c.1441T>A (p.Tyr481Asn)
c.1423T>A (p.Tyr475Asn)
c.1366T>A (p.Tyr456Asn)
c.1414T>A (p.Tyr472Asn)
c.1420T>A (p.Tyr474Asn)
c.1336T>A (p.Tyr446Asn)
c.1264T>A (p.Tyr422Asn)
c.559T>A (p.Tyr187Asn)
9g.137757945T>CCA375766090EHMT1c.1435T>C (p.Tyr479His)
c.1321T>C (p.Tyr441His)
c.1342T>C (p.Tyr448His)
c.1475T>C (n.1475T>C)
c.1380T>C
c.1062T>C
c.604T>C (p.Tyr202His)
c.*1170T>C (n.*1170T>C)
c.292T>C (p.Tyr98His)
c.127T>C (p.Tyr43His)
c.528T>C
c.1426T>C (p.Tyr476His)
c.1417T>C (p.Tyr473His)
c.1444T>C (p.Tyr482His)
c.1441T>C (p.Tyr481His)
c.1423T>C (p.Tyr475His)
c.1366T>C (p.Tyr456His)
c.1414T>C (p.Tyr472His)
c.1420T>C (p.Tyr474His)
c.1336T>C (p.Tyr446His)
c.1264T>C (p.Tyr422His)
c.559T>C (p.Tyr187His)
9g.137757945T>GCA375766088EHMT1c.1435T>G (p.Tyr479Asp)
c.1321T>G (p.Tyr441Asp)
c.1342T>G (p.Tyr448Asp)
c.1475T>G (n.1475T>G)
c.1380T>G
c.1062T>G
c.604T>G (p.Tyr202Asp)
c.*1170T>G (n.*1170T>G)
c.292T>G (p.Tyr98Asp)
c.127T>G (p.Tyr43Asp)
c.528T>G
c.1426T>G (p.Tyr476Asp)
c.1417T>G (p.Tyr473Asp)
c.1444T>G (p.Tyr482Asp)
c.1441T>G (p.Tyr481Asp)
c.1423T>G (p.Tyr475Asp)
c.1366T>G (p.Tyr456Asp)
c.1414T>G (p.Tyr472Asp)
c.1420T>G (p.Tyr474Asp)
c.1336T>G (p.Tyr446Asp)
c.1264T>G (p.Tyr422Asp)
c.559T>G (p.Tyr187Asp)
9g.137757946A>CCA375766098EHMT1c.1436A>C (p.Tyr479Ser)
c.1322A>C (p.Tyr441Ser)
c.1343A>C (p.Tyr448Ser)
c.1476A>C (n.1476A>C)
c.1381A>C
c.1063A>C
c.605A>C (p.Tyr202Ser)
c.*1171A>C (n.*1171A>C)
c.293A>C (p.Tyr98Ser)
c.128A>C (p.Tyr43Ser)
c.529A>C
c.1427A>C (p.Tyr476Ser)
c.1418A>C (p.Tyr473Ser)
c.1445A>C (p.Tyr482Ser)
c.1442A>C (p.Tyr481Ser)
c.1424A>C (p.Tyr475Ser)
c.1367A>C (p.Tyr456Ser)
c.1415A>C (p.Tyr472Ser)
c.1421A>C (p.Tyr474Ser)
c.1337A>C (p.Tyr446Ser)
c.1265A>C (p.Tyr422Ser)
c.560A>C (p.Tyr187Ser)
9g.137757946A>GCA375766101EHMT1c.1436A>G (p.Tyr479Cys)
c.1322A>G (p.Tyr441Cys)
c.1343A>G (p.Tyr448Cys)
c.1476A>G (n.1476A>G)
c.1381A>G
c.1063A>G
c.605A>G (p.Tyr202Cys)
c.*1171A>G (n.*1171A>G)
c.293A>G (p.Tyr98Cys)
c.128A>G (p.Tyr43Cys)
c.529A>G
c.1427A>G (p.Tyr476Cys)
c.1418A>G (p.Tyr473Cys)
c.1445A>G (p.Tyr482Cys)
c.1442A>G (p.Tyr481Cys)
c.1424A>G (p.Tyr475Cys)
c.1367A>G (p.Tyr456Cys)
c.1415A>G (p.Tyr472Cys)
c.1421A>G (p.Tyr474Cys)
c.1337A>G (p.Tyr446Cys)
c.1265A>G (p.Tyr422Cys)
c.560A>G (p.Tyr187Cys)
 gnomAD v4
9g.137757946A>TCA375766103EHMT1c.1436A>T (p.Tyr479Phe)
c.1322A>T (p.Tyr441Phe)
c.1343A>T (p.Tyr448Phe)
c.1476A>T (n.1476A>T)
c.1381A>T
c.1063A>T
c.605A>T (p.Tyr202Phe)
c.*1171A>T (n.*1171A>T)
c.293A>T (p.Tyr98Phe)
c.128A>T (p.Tyr43Phe)
c.529A>T
c.1427A>T (p.Tyr476Phe)
c.1418A>T (p.Tyr473Phe)
c.1445A>T (p.Tyr482Phe)
c.1442A>T (p.Tyr481Phe)
c.1424A>T (p.Tyr475Phe)
c.1367A>T (p.Tyr456Phe)
c.1415A>T (p.Tyr472Phe)
c.1421A>T (p.Tyr474Phe)
c.1337A>T (p.Tyr446Phe)
c.1265A>T (p.Tyr422Phe)
c.560A>T (p.Tyr187Phe)
9g.137757947C>ACA375766104EHMT1c.1437C>A (p.Tyr479Ter)
c.1323C>A (p.Tyr441Ter)
c.1344C>A (p.Tyr448Ter)
c.1477C>A (n.1477C>A)
c.1382C>A
c.1064C>A
c.606C>A (p.Tyr202Ter)
c.*1172C>A (n.*1172C>A)
c.294C>A (p.Tyr98Ter)
c.129C>A (p.Tyr43Ter)
c.530C>A
c.1428C>A (p.Tyr476Ter)
c.1419C>A (p.Tyr473Ter)
c.1446C>A (p.Tyr482Ter)
c.1443C>A (p.Tyr481Ter)
c.1425C>A (p.Tyr475Ter)
c.1368C>A (p.Tyr456Ter)
c.1416C>A (p.Tyr472Ter)
c.1422C>A (p.Tyr474Ter)
c.1338C>A (p.Tyr446Ter)
c.1266C>A (p.Tyr422Ter)
c.561C>A (p.Tyr187Ter)
9g.137757947C=CA1884657133EHMT1c.1437C= (p.Tyr479=)
c.1323C= (p.Tyr441=)
c.1344C= (p.Tyr448=)
c.1477C= (n.1477C=)
c.1382C=
c.1064C=
c.606C= (p.Tyr202=)
c.*1172C= (n.*1172C=)
c.294C= (p.Tyr98=)
c.129C= (p.Tyr43=)
c.530C=
c.1428C= (p.Tyr476=)
c.1419C= (p.Tyr473=)
c.1446C= (p.Tyr482=)
c.1443C= (p.Tyr481=)
c.1425C= (p.Tyr475=)
c.1368C= (p.Tyr456=)
c.1416C= (p.Tyr472=)
c.1422C= (p.Tyr474=)
c.1338C= (p.Tyr446=)
c.1266C= (p.Tyr422=)
c.561C= (p.Tyr187=)
9g.137757947C>GCA375766105EHMT1c.1437C>G (p.Tyr479Ter)
c.1323C>G (p.Tyr441Ter)
c.1344C>G (p.Tyr448Ter)
c.1477C>G (n.1477C>G)
c.1382C>G
c.1064C>G
c.606C>G (p.Tyr202Ter)
c.*1172C>G (n.*1172C>G)
c.294C>G (p.Tyr98Ter)
c.129C>G (p.Tyr43Ter)
c.530C>G
c.1428C>G (p.Tyr476Ter)
c.1419C>G (p.Tyr473Ter)
c.1446C>G (p.Tyr482Ter)
c.1443C>G (p.Tyr481Ter)
c.1425C>G (p.Tyr475Ter)
c.1368C>G (p.Tyr456Ter)
c.1416C>G (p.Tyr472Ter)
c.1422C>G (p.Tyr474Ter)
c.1338C>G (p.Tyr446Ter)
c.1266C>G (p.Tyr422Ter)
c.561C>G (p.Tyr187Ter)
9g.137757947C>TCA5374624EHMT1c.1437C>T (p.Tyr479=)
c.1323C>T (p.Tyr441=)
c.1344C>T (p.Tyr448=)
c.1477C>T (n.1477C>T)
c.1382C>T
c.1064C>T
c.606C>T (p.Tyr202=)
c.*1172C>T (n.*1172C>T)
c.294C>T (p.Tyr98=)
c.129C>T (p.Tyr43=)
c.530C>T
c.1428C>T (p.Tyr476=)
c.1419C>T (p.Tyr473=)
c.1446C>T (p.Tyr482=)
c.1443C>T (p.Tyr481=)
c.1425C>T (p.Tyr475=)
c.1368C>T (p.Tyr456=)
c.1416C>T (p.Tyr472=)
c.1422C>T (p.Tyr474=)
c.1338C>T (p.Tyr446=)
c.1266C>T (p.Tyr422=)
c.561C>T (p.Tyr187=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137757948A=CA1884657134EHMT1c.1438A= (p.Met480=)
c.1324A= (p.Met442=)
c.1345A= (p.Met449=)
c.1478A= (n.1478A=)
c.1383A=
c.1065A=
c.607A= (p.Met203=)
c.*1173A= (n.*1173A=)
c.295A= (p.Met99=)
c.130A= (p.Met44=)
c.531A=
c.1429A= (p.Met477=)
c.1420A= (p.Met474=)
c.1447A= (p.Met483=)
c.1444A= (p.Met482=)
c.1426A= (p.Met476=)
c.1369A= (p.Met457=)
c.1417A= (p.Met473=)
c.1423A= (p.Met475=)
c.1339A= (p.Met447=)
c.1267A= (p.Met423=)
c.562A= (p.Met188=)
9g.137757948A>CCA375766108EHMT1c.1438A>C (p.Met480Leu)
c.1324A>C (p.Met442Leu)
c.1345A>C (p.Met449Leu)
c.1478A>C (n.1478A>C)
c.1383A>C
c.1065A>C
c.607A>C (p.Met203Leu)
c.*1173A>C (n.*1173A>C)
c.295A>C (p.Met99Leu)
c.130A>C (p.Met44Leu)
c.531A>C
c.1429A>C (p.Met477Leu)
c.1420A>C (p.Met474Leu)
c.1447A>C (p.Met483Leu)
c.1444A>C (p.Met482Leu)
c.1426A>C (p.Met476Leu)
c.1369A>C (p.Met457Leu)
c.1417A>C (p.Met473Leu)
c.1423A>C (p.Met475Leu)
c.1339A>C (p.Met447Leu)
c.1267A>C (p.Met423Leu)
c.562A>C (p.Met188Leu)
 gnomAD v4
9g.137757948A>GCA5374625EHMT1c.1438A>G (p.Met480Val)
c.1324A>G (p.Met442Val)
c.1345A>G (p.Met449Val)
c.1478A>G (n.1478A>G)
c.1383A>G
c.1065A>G
c.607A>G (p.Met203Val)
c.*1173A>G (n.*1173A>G)
c.295A>G (p.Met99Val)
c.130A>G (p.Met44Val)
c.531A>G
c.1429A>G (p.Met477Val)
c.1420A>G (p.Met474Val)
c.1447A>G (p.Met483Val)
c.1444A>G (p.Met482Val)
c.1426A>G (p.Met476Val)
c.1369A>G (p.Met457Val)
c.1417A>G (p.Met473Val)
c.1423A>G (p.Met475Val)
c.1339A>G (p.Met447Val)
c.1267A>G (p.Met423Val)
c.562A>G (p.Met188Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137757948A>TCA375766123EHMT1c.1438A>T (p.Met480Leu)
c.1324A>T (p.Met442Leu)
c.1345A>T (p.Met449Leu)
c.1478A>T (n.1478A>T)
c.1383A>T
c.1065A>T
c.607A>T (p.Met203Leu)
c.*1173A>T (n.*1173A>T)
c.295A>T (p.Met99Leu)
c.130A>T (p.Met44Leu)
c.531A>T
c.1429A>T (p.Met477Leu)
c.1420A>T (p.Met474Leu)
c.1447A>T (p.Met483Leu)
c.1444A>T (p.Met482Leu)
c.1426A>T (p.Met476Leu)
c.1369A>T (p.Met457Leu)
c.1417A>T (p.Met473Leu)
c.1423A>T (p.Met475Leu)
c.1339A>T (p.Met447Leu)
c.1267A>T (p.Met423Leu)
c.562A>T (p.Met188Leu)
 ClinVar dbSNP gnomAD v4
9g.137757948dupCA2580617493EHMT1c.1438dup (p.Met480AsnfsTer?)
c.1324dup (p.Met442AsnfsTer?)
c.1345dup (p.Met449AsnfsTer?)
c.1478dup (n.1478dup)
c.1383dup
c.1065dup
c.607dup (p.Met203AsnfsTer?)
c.*1173dup (n.*1173dup)
c.295dup (p.Met99AsnfsTer?)
c.130dup (p.Met44AsnfsTer?)
c.531dup
c.1429dup (p.Met477AsnfsTer?)
c.1420dup (p.Met474AsnfsTer?)
c.1447dup (p.Met483AsnfsTer?)
c.1444dup (p.Met482AsnfsTer?)
c.1426dup (p.Met476AsnfsTer?)
c.1369dup (p.Met457AsnfsTer?)
c.1417dup (p.Met473AsnfsTer?)
c.1423dup (p.Met475AsnfsTer?)
c.1339dup (p.Met447AsnfsTer?)
c.1267dup (p.Met423AsnfsTer?)
c.562dup (p.Met188AsnfsTer?)
 ClinVar
9g.137757949T>ACA375766132EHMT1c.1439T>A (p.Met480Lys)
c.1325T>A (p.Met442Lys)
c.1346T>A (p.Met449Lys)
c.1479T>A (n.1479T>A)
c.1384T>A
c.1066T>A
c.608T>A (p.Met203Lys)
c.*1174T>A (n.*1174T>A)
c.296T>A (p.Met99Lys)
c.131T>A (p.Met44Lys)
c.532T>A
c.1430T>A (p.Met477Lys)
c.1421T>A (p.Met474Lys)
c.1448T>A (p.Met483Lys)
c.1445T>A (p.Met482Lys)
c.1427T>A (p.Met476Lys)
c.1370T>A (p.Met457Lys)
c.1418T>A (p.Met473Lys)
c.1424T>A (p.Met475Lys)
c.1340T>A (p.Met447Lys)
c.1268T>A (p.Met423Lys)
c.563T>A (p.Met188Lys)
9g.137757949T>CCA375766136EHMT1c.1439T>C (p.Met480Thr)
c.1325T>C (p.Met442Thr)
c.1346T>C (p.Met449Thr)
c.1479T>C (n.1479T>C)
c.1384T>C
c.1066T>C
c.608T>C (p.Met203Thr)
c.*1174T>C (n.*1174T>C)
c.296T>C (p.Met99Thr)
c.131T>C (p.Met44Thr)
c.532T>C
c.1430T>C (p.Met477Thr)
c.1421T>C (p.Met474Thr)
c.1448T>C (p.Met483Thr)
c.1445T>C (p.Met482Thr)
c.1427T>C (p.Met476Thr)
c.1370T>C (p.Met457Thr)
c.1418T>C (p.Met473Thr)
c.1424T>C (p.Met475Thr)
c.1340T>C (p.Met447Thr)
c.1268T>C (p.Met423Thr)
c.563T>C (p.Met188Thr)
 dbSNP gnomAD v4
9g.137757949T>GCA375766139EHMT1c.1439T>G (p.Met480Arg)
c.1325T>G (p.Met442Arg)
c.1346T>G (p.Met449Arg)
c.1479T>G (n.1479T>G)
c.1384T>G
c.1066T>G
c.608T>G (p.Met203Arg)
c.*1174T>G (n.*1174T>G)
c.296T>G (p.Met99Arg)
c.131T>G (p.Met44Arg)
c.532T>G
c.1430T>G (p.Met477Arg)
c.1421T>G (p.Met474Arg)
c.1448T>G (p.Met483Arg)
c.1445T>G (p.Met482Arg)
c.1427T>G (p.Met476Arg)
c.1370T>G (p.Met457Arg)
c.1418T>G (p.Met473Arg)
c.1424T>G (p.Met475Arg)
c.1340T>G (p.Met447Arg)
c.1268T>G (p.Met423Arg)
c.563T>G (p.Met188Arg)
9g.137757949T=CA1884657135EHMT1c.1439T= (p.Met480=)
c.1325T= (p.Met442=)
c.1346T= (p.Met449=)
c.1479T= (n.1479T=)
c.1384T=
c.1066T=
c.608T= (p.Met203=)
c.*1174T= (n.*1174T=)
c.296T= (p.Met99=)
c.131T= (p.Met44=)
c.532T=
c.1430T= (p.Met477=)
c.1421T= (p.Met474=)
c.1448T= (p.Met483=)
c.1445T= (p.Met482=)
c.1427T= (p.Met476=)
c.1370T= (p.Met457=)
c.1418T= (p.Met473=)
c.1424T= (p.Met475=)
c.1340T= (p.Met447=)
c.1268T= (p.Met423=)
c.563T= (p.Met188=)
9g.137757950G>ACA375766149EHMT1c.1440G>A (p.Met480Ile)
c.1326G>A (p.Met442Ile)
c.1347G>A (p.Met449Ile)
c.1480G>A (n.1480G>A)
c.1385G>A
c.1067G>A
c.609G>A (p.Met203Ile)
c.*1175G>A (n.*1175G>A)
c.297G>A (p.Met99Ile)
c.132G>A (p.Met44Ile)
c.533G>A
c.1431G>A (p.Met477Ile)
c.1422G>A (p.Met474Ile)
c.1449G>A (p.Met483Ile)
c.1446G>A (p.Met482Ile)
c.1428G>A (p.Met476Ile)
c.1371G>A (p.Met457Ile)
c.1419G>A (p.Met473Ile)
c.1425G>A (p.Met475Ile)
c.1341G>A (p.Met447Ile)
c.1269G>A (p.Met423Ile)
c.564G>A (p.Met188Ile)
9g.137757950G>CCA375766150EHMT1c.1440G>C (p.Met480Ile)
c.1326G>C (p.Met442Ile)
c.1347G>C (p.Met449Ile)
c.1480G>C (n.1480G>C)
c.1385G>C
c.1067G>C
c.609G>C (p.Met203Ile)
c.*1175G>C (n.*1175G>C)
c.297G>C (p.Met99Ile)
c.132G>C (p.Met44Ile)
c.533G>C
c.1431G>C (p.Met477Ile)
c.1422G>C (p.Met474Ile)
c.1449G>C (p.Met483Ile)
c.1446G>C (p.Met482Ile)
c.1428G>C (p.Met476Ile)
c.1371G>C (p.Met457Ile)
c.1419G>C (p.Met473Ile)
c.1425G>C (p.Met475Ile)
c.1341G>C (p.Met447Ile)
c.1269G>C (p.Met423Ile)
c.564G>C (p.Met188Ile)
9g.137757950G>TCA375766142EHMT1c.1440G>T (p.Met480Ile)
c.1326G>T (p.Met442Ile)
c.1347G>T (p.Met449Ile)
c.1480G>T (n.1480G>T)
c.1385G>T
c.1067G>T
c.609G>T (p.Met203Ile)
c.*1175G>T (n.*1175G>T)
c.297G>T (p.Met99Ile)
c.132G>T (p.Met44Ile)
c.533G>T
c.1431G>T (p.Met477Ile)
c.1422G>T (p.Met474Ile)
c.1449G>T (p.Met483Ile)
c.1446G>T (p.Met482Ile)
c.1428G>T (p.Met476Ile)
c.1371G>T (p.Met457Ile)
c.1419G>T (p.Met473Ile)
c.1425G>T (p.Met475Ile)
c.1341G>T (p.Met447Ile)
c.1269G>T (p.Met423Ile)
c.564G>T (p.Met188Ile)
9g.137757951G>ACA375766155EHMT1c.1441G>A (p.Glu481Lys)
c.1327G>A (p.Glu443Lys)
c.1348G>A (p.Glu450Lys)
c.1481G>A (n.1481G>A)
c.1386G>A
c.1068G>A
c.610G>A (p.Glu204Lys)
c.*1176G>A (n.*1176G>A)
c.298G>A (p.Glu100Lys)
c.133G>A (p.Glu45Lys)
c.534G>A
c.1432G>A (p.Glu478Lys)
c.1423G>A (p.Glu475Lys)
c.1450G>A (p.Glu484Lys)
c.1447G>A (p.Glu483Lys)
c.1429G>A (p.Glu477Lys)
c.1372G>A (p.Glu458Lys)
c.1420G>A (p.Glu474Lys)
c.1426G>A (p.Glu476Lys)
c.1342G>A (p.Glu448Lys)
c.1270G>A (p.Glu424Lys)
c.565G>A (p.Glu189Lys)
 COSMIC COSMIC
9g.137757951G>CCA375766163EHMT1c.1441G>C (p.Glu481Gln)
c.1327G>C (p.Glu443Gln)
c.1348G>C (p.Glu450Gln)
c.1481G>C (n.1481G>C)
c.1386G>C
c.1068G>C
c.610G>C (p.Glu204Gln)
c.*1176G>C (n.*1176G>C)
c.298G>C (p.Glu100Gln)
c.133G>C (p.Glu45Gln)
c.534G>C
c.1432G>C (p.Glu478Gln)
c.1423G>C (p.Glu475Gln)
c.1450G>C (p.Glu484Gln)
c.1447G>C (p.Glu483Gln)
c.1429G>C (p.Glu477Gln)
c.1372G>C (p.Glu458Gln)
c.1420G>C (p.Glu474Gln)
c.1426G>C (p.Glu476Gln)
c.1342G>C (p.Glu448Gln)
c.1270G>C (p.Glu424Gln)
c.565G>C (p.Glu189Gln)
9g.137757951G>TCA375766161EHMT1c.1441G>T (p.Glu481Ter)
c.1327G>T (p.Glu443Ter)
c.1348G>T (p.Glu450Ter)
c.1481G>T (n.1481G>T)
c.1386G>T
c.1068G>T
c.610G>T (p.Glu204Ter)
c.*1176G>T (n.*1176G>T)
c.298G>T (p.Glu100Ter)
c.133G>T (p.Glu45Ter)
c.534G>T
c.1432G>T (p.Glu478Ter)
c.1423G>T (p.Glu475Ter)
c.1450G>T (p.Glu484Ter)
c.1447G>T (p.Glu483Ter)
c.1429G>T (p.Glu477Ter)
c.1372G>T (p.Glu458Ter)
c.1420G>T (p.Glu474Ter)
c.1426G>T (p.Glu476Ter)
c.1342G>T (p.Glu448Ter)
c.1270G>T (p.Glu424Ter)
c.565G>T (p.Glu189Ter)
9g.137757952A>CCA375766182EHMT1c.1442A>C (p.Glu481Ala)
c.1328A>C (p.Glu443Ala)
c.1349A>C (p.Glu450Ala)
c.1482A>C (n.1482A>C)
c.1387A>C
c.1069A>C
c.611A>C (p.Glu204Ala)
c.*1177A>C (n.*1177A>C)
c.299A>C (p.Glu100Ala)
c.134A>C (p.Glu45Ala)
c.535A>C
c.1433A>C (p.Glu478Ala)
c.1424A>C (p.Glu475Ala)
c.1451A>C (p.Glu484Ala)
c.1448A>C (p.Glu483Ala)
c.1430A>C (p.Glu477Ala)
c.1373A>C (p.Glu458Ala)
c.1421A>C (p.Glu474Ala)
c.1427A>C (p.Glu476Ala)
c.1343A>C (p.Glu448Ala)
c.1271A>C (p.Glu424Ala)
c.566A>C (p.Glu189Ala)
9g.137757952A>GCA375766183EHMT1c.1442A>G (p.Glu481Gly)
c.1328A>G (p.Glu443Gly)
c.1349A>G (p.Glu450Gly)
c.1482A>G (n.1482A>G)
c.1387A>G
c.1069A>G
c.611A>G (p.Glu204Gly)
c.*1177A>G (n.*1177A>G)
c.299A>G (p.Glu100Gly)
c.134A>G (p.Glu45Gly)
c.535A>G
c.1433A>G (p.Glu478Gly)
c.1424A>G (p.Glu475Gly)
c.1451A>G (p.Glu484Gly)
c.1448A>G (p.Glu483Gly)
c.1430A>G (p.Glu477Gly)
c.1373A>G (p.Glu458Gly)
c.1421A>G (p.Glu474Gly)
c.1427A>G (p.Glu476Gly)
c.1343A>G (p.Glu448Gly)
c.1271A>G (p.Glu424Gly)
c.566A>G (p.Glu189Gly)
9g.137757952A>TCA375766191EHMT1c.1442A>T (p.Glu481Val)
c.1328A>T (p.Glu443Val)
c.1349A>T (p.Glu450Val)
c.1482A>T (n.1482A>T)
c.1387A>T
c.1069A>T
c.611A>T (p.Glu204Val)
c.*1177A>T (n.*1177A>T)
c.299A>T (p.Glu100Val)
c.134A>T (p.Glu45Val)
c.535A>T
c.1433A>T (p.Glu478Val)
c.1424A>T (p.Glu475Val)
c.1451A>T (p.Glu484Val)
c.1448A>T (p.Glu483Val)
c.1430A>T (p.Glu477Val)
c.1373A>T (p.Glu458Val)
c.1421A>T (p.Glu474Val)
c.1427A>T (p.Glu476Val)
c.1343A>T (p.Glu448Val)
c.1271A>T (p.Glu424Val)
c.566A>T (p.Glu189Val)
9g.137757953A>CCA375766196EHMT1c.1443A>C (p.Glu481Asp)
c.1329A>C (p.Glu443Asp)
c.1350A>C (p.Glu450Asp)
c.1483A>C (n.1483A>C)
c.1388A>C
c.1070A>C
c.612A>C (p.Glu204Asp)
c.*1178A>C (n.*1178A>C)
c.300A>C (p.Glu100Asp)
c.135A>C (p.Glu45Asp)
c.536A>C
c.1434A>C (p.Glu478Asp)
c.1425A>C (p.Glu475Asp)
c.1452A>C (p.Glu484Asp)
c.1449A>C (p.Glu483Asp)
c.1431A>C (p.Glu477Asp)
c.1374A>C (p.Glu458Asp)
c.1422A>C (p.Glu474Asp)
c.1428A>C (p.Glu476Asp)
c.1344A>C (p.Glu448Asp)
c.1272A>C (p.Glu424Asp)
c.567A>C (p.Glu189Asp)
9g.137757953A>GCA467873793EHMT1c.1443A>G (p.Glu481=)
c.1329A>G (p.Glu443=)
c.1350A>G (p.Glu450=)
c.1483A>G (n.1483A>G)
c.1388A>G
c.1070A>G
c.612A>G (p.Glu204=)
c.*1178A>G (n.*1178A>G)
c.300A>G (p.Glu100=)
c.135A>G (p.Glu45=)
c.536A>G
c.1434A>G (p.Glu478=)
c.1425A>G (p.Glu475=)
c.1452A>G (p.Glu484=)
c.1449A>G (p.Glu483=)
c.1431A>G (p.Glu477=)
c.1374A>G (p.Glu458=)
c.1422A>G (p.Glu474=)
c.1428A>G (p.Glu476=)
c.1344A>G (p.Glu448=)
c.1272A>G (p.Glu424=)
c.567A>G (p.Glu189=)
9g.137757953A>TCA375766198EHMT1c.1443A>T (p.Glu481Asp)
c.1329A>T (p.Glu443Asp)
c.1350A>T (p.Glu450Asp)
c.1483A>T (n.1483A>T)
c.1388A>T
c.1070A>T
c.612A>T (p.Glu204Asp)
c.*1178A>T (n.*1178A>T)
c.300A>T (p.Glu100Asp)
c.135A>T (p.Glu45Asp)
c.536A>T
c.1434A>T (p.Glu478Asp)
c.1425A>T (p.Glu475Asp)
c.1452A>T (p.Glu484Asp)
c.1449A>T (p.Glu483Asp)
c.1431A>T (p.Glu477Asp)
c.1374A>T (p.Glu458Asp)
c.1422A>T (p.Glu474Asp)
c.1428A>T (p.Glu476Asp)
c.1344A>T (p.Glu448Asp)
c.1272A>T (p.Glu424Asp)
c.567A>T (p.Glu189Asp)
 gnomAD v4
9g.137757954G>ACA375766205EHMT1c.1444G>A (p.Val482Ile)
c.1330G>A (p.Val444Ile)
c.1351G>A (p.Val451Ile)
c.1484G>A (n.1484G>A)
c.1389G>A
c.1071G>A
c.613G>A (p.Val205Ile)
c.*1179G>A (n.*1179G>A)
c.301G>A (p.Val101Ile)
c.136G>A (p.Val46Ile)
c.537G>A
c.1435G>A (p.Val479Ile)
c.1426G>A (p.Val476Ile)
c.1453G>A (p.Val485Ile)
c.1450G>A (p.Val484Ile)
c.1432G>A (p.Val478Ile)
c.1375G>A (p.Val459Ile)
c.1423G>A (p.Val475Ile)
c.1429G>A (p.Val477Ile)
c.1345G>A (p.Val449Ile)
c.1273G>A (p.Val425Ile)
c.568G>A (p.Val190Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137757954G>CCA375766207EHMT1c.1444G>C (p.Val482Leu)
c.1330G>C (p.Val444Leu)
c.1351G>C (p.Val451Leu)
c.1484G>C (n.1484G>C)
c.1389G>C
c.1071G>C
c.613G>C (p.Val205Leu)
c.*1179G>C (n.*1179G>C)
c.301G>C (p.Val101Leu)
c.136G>C (p.Val46Leu)
c.537G>C
c.1435G>C (p.Val479Leu)
c.1426G>C (p.Val476Leu)
c.1453G>C (p.Val485Leu)
c.1450G>C (p.Val484Leu)
c.1432G>C (p.Val478Leu)
c.1375G>C (p.Val459Leu)
c.1423G>C (p.Val475Leu)
c.1429G>C (p.Val477Leu)
c.1345G>C (p.Val449Leu)
c.1273G>C (p.Val425Leu)
c.568G>C (p.Val190Leu)
9g.137757954G=CA1884657136EHMT1c.1444G= (p.Val482=)
c.1330G= (p.Val444=)
c.1351G= (p.Val451=)
c.1484G= (n.1484G=)
c.1389G=
c.1071G=
c.613G= (p.Val205=)
c.*1179G= (n.*1179G=)
c.301G= (p.Val101=)
c.136G= (p.Val46=)
c.537G=
c.1435G= (p.Val479=)
c.1426G= (p.Val476=)
c.1453G= (p.Val485=)
c.1450G= (p.Val484=)
c.1432G= (p.Val478=)
c.1375G= (p.Val459=)
c.1423G= (p.Val475=)
c.1429G= (p.Val477=)
c.1345G= (p.Val449=)
c.1273G= (p.Val425=)
c.568G= (p.Val190=)
9g.137757954G>TCA375766210EHMT1c.1444G>T (p.Val482Phe)
c.1330G>T (p.Val444Phe)
c.1351G>T (p.Val451Phe)
c.1484G>T (n.1484G>T)
c.1389G>T
c.1071G>T
c.613G>T (p.Val205Phe)
c.*1179G>T (n.*1179G>T)
c.301G>T (p.Val101Phe)
c.136G>T (p.Val46Phe)
c.537G>T
c.1435G>T (p.Val479Phe)
c.1426G>T (p.Val476Phe)
c.1453G>T (p.Val485Phe)
c.1450G>T (p.Val484Phe)
c.1432G>T (p.Val478Phe)
c.1375G>T (p.Val459Phe)
c.1423G>T (p.Val475Phe)
c.1429G>T (p.Val477Phe)
c.1345G>T (p.Val449Phe)
c.1273G>T (p.Val425Phe)
c.568G>T (p.Val190Phe)
9g.137757955T>ACA375766212EHMT1c.1445T>A (p.Val482Asp)
c.1331T>A (p.Val444Asp)
c.1352T>A (p.Val451Asp)
c.1485T>A (n.1485T>A)
c.1390T>A
c.1072T>A
c.614T>A (p.Val205Asp)
c.*1180T>A (n.*1180T>A)
c.302T>A (p.Val101Asp)
c.137T>A (p.Val46Asp)
c.538T>A
c.1436T>A (p.Val479Asp)
c.1427T>A (p.Val476Asp)
c.1454T>A (p.Val485Asp)
c.1451T>A (p.Val484Asp)
c.1433T>A (p.Val478Asp)
c.1376T>A (p.Val459Asp)
c.1424T>A (p.Val475Asp)
c.1430T>A (p.Val477Asp)
c.1346T>A (p.Val449Asp)
c.1274T>A (p.Val425Asp)
c.569T>A (p.Val190Asp)
9g.137757955T>CCA375766215EHMT1c.1445T>C (p.Val482Ala)
c.1331T>C (p.Val444Ala)
c.1352T>C (p.Val451Ala)
c.1485T>C (n.1485T>C)
c.1390T>C
c.1072T>C
c.614T>C (p.Val205Ala)
c.*1180T>C (n.*1180T>C)
c.302T>C (p.Val101Ala)
c.137T>C (p.Val46Ala)
c.538T>C
c.1436T>C (p.Val479Ala)
c.1427T>C (p.Val476Ala)
c.1454T>C (p.Val485Ala)
c.1451T>C (p.Val484Ala)
c.1433T>C (p.Val478Ala)
c.1376T>C (p.Val459Ala)
c.1424T>C (p.Val475Ala)
c.1430T>C (p.Val477Ala)
c.1346T>C (p.Val449Ala)
c.1274T>C (p.Val425Ala)
c.569T>C (p.Val190Ala)
 gnomAD v4
9g.137757955T>GCA375766216EHMT1c.1445T>G (p.Val482Gly)
c.1331T>G (p.Val444Gly)
c.1352T>G (p.Val451Gly)
c.1485T>G (n.1485T>G)
c.1390T>G
c.1072T>G
c.614T>G (p.Val205Gly)
c.*1180T>G (n.*1180T>G)
c.302T>G (p.Val101Gly)
c.137T>G (p.Val46Gly)
c.538T>G
c.1436T>G (p.Val479Gly)
c.1427T>G (p.Val476Gly)
c.1454T>G (p.Val485Gly)
c.1451T>G (p.Val484Gly)
c.1433T>G (p.Val478Gly)
c.1376T>G (p.Val459Gly)
c.1424T>G (p.Val475Gly)
c.1430T>G (p.Val477Gly)
c.1346T>G (p.Val449Gly)
c.1274T>G (p.Val425Gly)
c.569T>G (p.Val190Gly)
9g.137757956T>ACA467873794EHMT1c.1446T>A (p.Val482=)
c.1332T>A (p.Val444=)
c.1353T>A (p.Val451=)
c.1486T>A (n.1486T>A)
c.1391T>A
c.1073T>A
c.615T>A (p.Val205=)
c.*1181T>A (n.*1181T>A)
c.303T>A (p.Val101=)
c.138T>A (p.Val46=)
c.539T>A
c.1437T>A (p.Val479=)
c.1428T>A (p.Val476=)
c.1455T>A (p.Val485=)
c.1452T>A (p.Val484=)
c.1434T>A (p.Val478=)
c.1377T>A (p.Val459=)
c.1425T>A (p.Val475=)
c.1431T>A (p.Val477=)
c.1347T>A (p.Val449=)
c.1275T>A (p.Val425=)
c.570T>A (p.Val190=)
9g.137757956T>CCA467873796EHMT1c.1446T>C (p.Val482=)
c.1332T>C (p.Val444=)
c.1353T>C (p.Val451=)
c.1486T>C (n.1486T>C)
c.1391T>C
c.1073T>C
c.615T>C (p.Val205=)
c.*1181T>C (n.*1181T>C)
c.303T>C (p.Val101=)
c.138T>C (p.Val46=)
c.539T>C
c.1437T>C (p.Val479=)
c.1428T>C (p.Val476=)
c.1455T>C (p.Val485=)
c.1452T>C (p.Val484=)
c.1434T>C (p.Val478=)
c.1377T>C (p.Val459=)
c.1425T>C (p.Val475=)
c.1431T>C (p.Val477=)
c.1347T>C (p.Val449=)
c.1275T>C (p.Val425=)
c.570T>C (p.Val190=)
9g.137757956T>GCA467873795EHMT1c.1446T>G (p.Val482=)
c.1332T>G (p.Val444=)
c.1353T>G (p.Val451=)
c.1486T>G (n.1486T>G)
c.1391T>G
c.1073T>G
c.615T>G (p.Val205=)
c.*1181T>G (n.*1181T>G)
c.303T>G (p.Val101=)
c.138T>G (p.Val46=)
c.539T>G
c.1437T>G (p.Val479=)
c.1428T>G (p.Val476=)
c.1455T>G (p.Val485=)
c.1452T>G (p.Val484=)
c.1434T>G (p.Val478=)
c.1377T>G (p.Val459=)
c.1425T>G (p.Val475=)
c.1431T>G (p.Val477=)
c.1347T>G (p.Val449=)
c.1275T>G (p.Val425=)
c.570T>G (p.Val190=)
9g.137757957T>ACA375766225EHMT1c.1447T>A (p.Ser483Thr)
c.1333T>A (p.Ser445Thr)
c.1354T>A (p.Ser452Thr)
c.1487T>A (n.1487T>A)
c.1392T>A
c.1074T>A
c.616T>A (p.Ser206Thr)
c.*1182T>A (n.*1182T>A)
c.304T>A (p.Ser102Thr)
c.139T>A (p.Ser47Thr)
c.540T>A
c.1438T>A (p.Ser480Thr)
c.1429T>A (p.Ser477Thr)
c.1456T>A (p.Ser486Thr)
c.1453T>A (p.Ser485Thr)
c.1435T>A (p.Ser479Thr)
c.1378T>A (p.Ser460Thr)
c.1426T>A (p.Ser476Thr)
c.1432T>A (p.Ser478Thr)
c.1348T>A (p.Ser450Thr)
c.1276T>A (p.Ser426Thr)
c.571T>A (p.Ser191Thr)
9g.137757957T>CCA375766221EHMT1c.1447T>C (p.Ser483Pro)
c.1333T>C (p.Ser445Pro)
c.1354T>C (p.Ser452Pro)
c.1487T>C (n.1487T>C)
c.1392T>C
c.1074T>C
c.616T>C (p.Ser206Pro)
c.*1182T>C (n.*1182T>C)
c.304T>C (p.Ser102Pro)
c.139T>C (p.Ser47Pro)
c.540T>C
c.1438T>C (p.Ser480Pro)
c.1429T>C (p.Ser477Pro)
c.1456T>C (p.Ser486Pro)
c.1453T>C (p.Ser485Pro)
c.1435T>C (p.Ser479Pro)
c.1378T>C (p.Ser460Pro)
c.1426T>C (p.Ser476Pro)
c.1432T>C (p.Ser478Pro)
c.1348T>C (p.Ser450Pro)
c.1276T>C (p.Ser426Pro)
c.571T>C (p.Ser191Pro)
9g.137757957T>GCA375766219EHMT1c.1447T>G (p.Ser483Ala)
c.1333T>G (p.Ser445Ala)
c.1354T>G (p.Ser452Ala)
c.1487T>G (n.1487T>G)
c.1392T>G
c.1074T>G
c.616T>G (p.Ser206Ala)
c.*1182T>G (n.*1182T>G)
c.304T>G (p.Ser102Ala)
c.139T>G (p.Ser47Ala)
c.540T>G
c.1438T>G (p.Ser480Ala)
c.1429T>G (p.Ser477Ala)
c.1456T>G (p.Ser486Ala)
c.1453T>G (p.Ser485Ala)
c.1435T>G (p.Ser479Ala)
c.1378T>G (p.Ser460Ala)
c.1426T>G (p.Ser476Ala)
c.1432T>G (p.Ser478Ala)
c.1348T>G (p.Ser450Ala)
c.1276T>G (p.Ser426Ala)
c.571T>G (p.Ser191Ala)
9g.137757958C>ACA201787792EHMT1c.1448C>A (p.Ser483Tyr)
c.1334C>A (p.Ser445Tyr)
c.1355C>A (p.Ser452Tyr)
c.1488C>A (n.1488C>A)
c.1393C>A
c.1075C>A
c.617C>A (p.Ser206Tyr)
c.*1183C>A (n.*1183C>A)
c.305C>A (p.Ser102Tyr)
c.140C>A (p.Ser47Tyr)
c.541C>A
c.1439C>A (p.Ser480Tyr)
c.1430C>A (p.Ser477Tyr)
c.1457C>A (p.Ser486Tyr)
c.1454C>A (p.Ser485Tyr)
c.1436C>A (p.Ser479Tyr)
c.1379C>A (p.Ser460Tyr)
c.1427C>A (p.Ser476Tyr)
c.1433C>A (p.Ser478Tyr)
c.1349C>A (p.Ser450Tyr)
c.1277C>A (p.Ser426Tyr)
c.572C>A (p.Ser191Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137757958C=CA1884657137EHMT1c.1448C= (p.Ser483=)
c.1334C= (p.Ser445=)
c.1355C= (p.Ser452=)
c.1488C= (n.1488C=)
c.1393C=
c.1075C=
c.617C= (p.Ser206=)
c.*1183C= (n.*1183C=)
c.305C= (p.Ser102=)
c.140C= (p.Ser47=)
c.541C=
c.1439C= (p.Ser480=)
c.1430C= (p.Ser477=)
c.1457C= (p.Ser486=)
c.1454C= (p.Ser485=)
c.1436C= (p.Ser479=)
c.1379C= (p.Ser460=)
c.1427C= (p.Ser476=)
c.1433C= (p.Ser478=)
c.1349C= (p.Ser450=)
c.1277C= (p.Ser426=)
c.572C= (p.Ser191=)
9g.137757958C>GCA375766236EHMT1c.1448C>G (p.Ser483Cys)
c.1334C>G (p.Ser445Cys)
c.1355C>G (p.Ser452Cys)
c.1488C>G (n.1488C>G)
c.1393C>G
c.1075C>G
c.617C>G (p.Ser206Cys)
c.*1183C>G (n.*1183C>G)
c.305C>G (p.Ser102Cys)
c.140C>G (p.Ser47Cys)
c.541C>G
c.1439C>G (p.Ser480Cys)
c.1430C>G (p.Ser477Cys)
c.1457C>G (p.Ser486Cys)
c.1454C>G (p.Ser485Cys)
c.1436C>G (p.Ser479Cys)
c.1379C>G (p.Ser460Cys)
c.1427C>G (p.Ser476Cys)
c.1433C>G (p.Ser478Cys)
c.1349C>G (p.Ser450Cys)
c.1277C>G (p.Ser426Cys)
c.572C>G (p.Ser191Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.137757958C>TCA375766237EHMT1c.1448C>T (p.Ser483Phe)
c.1334C>T (p.Ser445Phe)
c.1355C>T (p.Ser452Phe)
c.1488C>T (n.1488C>T)
c.1393C>T
c.1075C>T
c.617C>T (p.Ser206Phe)
c.*1183C>T (n.*1183C>T)
c.305C>T (p.Ser102Phe)
c.140C>T (p.Ser47Phe)
c.541C>T
c.1439C>T (p.Ser480Phe)
c.1430C>T (p.Ser477Phe)
c.1457C>T (p.Ser486Phe)
c.1454C>T (p.Ser485Phe)
c.1436C>T (p.Ser479Phe)
c.1379C>T (p.Ser460Phe)
c.1427C>T (p.Ser476Phe)
c.1433C>T (p.Ser478Phe)
c.1349C>T (p.Ser450Phe)
c.1277C>T (p.Ser426Phe)
c.572C>T (p.Ser191Phe)
9g.137757959T>ACA467873797EHMT1c.1449T>A (p.Ser483=)
c.1335T>A (p.Ser445=)
c.1356T>A (p.Ser452=)
c.1489T>A (n.1489T>A)
c.1394T>A
c.1076T>A
c.618T>A (p.Ser206=)
c.*1184T>A (n.*1184T>A)
c.306T>A (p.Ser102=)
c.141T>A (p.Ser47=)
c.542T>A
c.1440T>A (p.Ser480=)
c.1431T>A (p.Ser477=)
c.1458T>A (p.Ser486=)
c.1455T>A (p.Ser485=)
c.1437T>A (p.Ser479=)
c.1380T>A (p.Ser460=)
c.1428T>A (p.Ser476=)
c.1434T>A (p.Ser478=)
c.1350T>A (p.Ser450=)
c.1278T>A (p.Ser426=)
c.573T>A (p.Ser191=)
 ClinVar
9g.137757959T>CCA467873798EHMT1c.1449T>C (p.Ser483=)
c.1335T>C (p.Ser445=)
c.1356T>C (p.Ser452=)
c.1489T>C (n.1489T>C)
c.1394T>C
c.1076T>C
c.618T>C (p.Ser206=)
c.*1184T>C (n.*1184T>C)
c.306T>C (p.Ser102=)
c.141T>C (p.Ser47=)
c.542T>C
c.1440T>C (p.Ser480=)
c.1431T>C (p.Ser477=)
c.1458T>C (p.Ser486=)
c.1455T>C (p.Ser485=)
c.1437T>C (p.Ser479=)
c.1380T>C (p.Ser460=)
c.1428T>C (p.Ser476=)
c.1434T>C (p.Ser478=)
c.1350T>C (p.Ser450=)
c.1278T>C (p.Ser426=)
c.573T>C (p.Ser191=)
9g.137757959T>GCA467873799EHMT1c.1449T>G (p.Ser483=)
c.1335T>G (p.Ser445=)
c.1356T>G (p.Ser452=)
c.1489T>G (n.1489T>G)
c.1394T>G
c.1076T>G
c.618T>G (p.Ser206=)
c.*1184T>G (n.*1184T>G)
c.306T>G (p.Ser102=)
c.141T>G (p.Ser47=)
c.542T>G
c.1440T>G (p.Ser480=)
c.1431T>G (p.Ser477=)
c.1458T>G (p.Ser486=)
c.1455T>G (p.Ser485=)
c.1437T>G (p.Ser479=)
c.1380T>G (p.Ser460=)
c.1428T>G (p.Ser476=)
c.1434T>G (p.Ser478=)
c.1350T>G (p.Ser450=)
c.1278T>G (p.Ser426=)
c.573T>G (p.Ser191=)
9g.137757960C>ACA375766238EHMT1c.1450C>A (p.Leu484Met)
c.1336C>A (p.Leu446Met)
c.1357C>A (p.Leu453Met)
c.1490C>A (n.1490C>A)
c.1395C>A
c.1077C>A
c.619C>A (p.Leu207Met)
c.*1185C>A (n.*1185C>A)
c.307C>A (p.Leu103Met)
c.142C>A (p.Leu48Met)
c.543C>A
c.1441C>A (p.Leu481Met)
c.1432C>A (p.Leu478Met)
c.1459C>A (p.Leu487Met)
c.1456C>A (p.Leu486Met)
c.1438C>A (p.Leu480Met)
c.1381C>A (p.Leu461Met)
c.1429C>A (p.Leu477Met)
c.1435C>A (p.Leu479Met)
c.1351C>A (p.Leu451Met)
c.1279C>A (p.Leu427Met)
c.574C>A (p.Leu192Met)
9g.137757960C>GCA375766239EHMT1c.1450C>G (p.Leu484Val)
c.1336C>G (p.Leu446Val)
c.1357C>G (p.Leu453Val)
c.1490C>G (n.1490C>G)
c.1395C>G
c.1077C>G
c.619C>G (p.Leu207Val)
c.*1185C>G (n.*1185C>G)
c.307C>G (p.Leu103Val)
c.142C>G (p.Leu48Val)
c.543C>G
c.1441C>G (p.Leu481Val)
c.1432C>G (p.Leu478Val)
c.1459C>G (p.Leu487Val)
c.1456C>G (p.Leu486Val)
c.1438C>G (p.Leu480Val)
c.1381C>G (p.Leu461Val)
c.1429C>G (p.Leu477Val)
c.1435C>G (p.Leu479Val)
c.1351C>G (p.Leu451Val)
c.1279C>G (p.Leu427Val)
c.574C>G (p.Leu192Val)
9g.137757960C>TCA467873800EHMT1c.1450C>T (p.Leu484=)
c.1336C>T (p.Leu446=)
c.1357C>T (p.Leu453=)
c.1490C>T (n.1490C>T)
c.1395C>T
c.1077C>T
c.619C>T (p.Leu207=)
c.*1185C>T (n.*1185C>T)
c.307C>T (p.Leu103=)
c.142C>T (p.Leu48=)
c.543C>T
c.1441C>T (p.Leu481=)
c.1432C>T (p.Leu478=)
c.1459C>T (p.Leu487=)
c.1456C>T (p.Leu486=)
c.1438C>T (p.Leu480=)
c.1381C>T (p.Leu461=)
c.1429C>T (p.Leu477=)
c.1435C>T (p.Leu479=)
c.1351C>T (p.Leu451=)
c.1279C>T (p.Leu427=)
c.574C>T (p.Leu192=)
9g.137757961T>ACA375766241EHMT1c.1451T>A (p.Leu484Gln)
c.1337T>A (p.Leu446Gln)
c.1358T>A (p.Leu453Gln)
c.1491T>A (n.1491T>A)
c.1396T>A
c.1078T>A
c.620T>A (p.Leu207Gln)
c.*1186T>A (n.*1186T>A)
c.308T>A (p.Leu103Gln)
c.143T>A (p.Leu48Gln)
c.544T>A
c.1442T>A (p.Leu481Gln)
c.1433T>A (p.Leu478Gln)
c.1460T>A (p.Leu487Gln)
c.1457T>A (p.Leu486Gln)
c.1439T>A (p.Leu480Gln)
c.1382T>A (p.Leu461Gln)
c.1430T>A (p.Leu477Gln)
c.1436T>A (p.Leu479Gln)
c.1352T>A (p.Leu451Gln)
c.1280T>A (p.Leu427Gln)
c.575T>A (p.Leu192Gln)
9g.137757961T>CCA375766243EHMT1c.1451T>C (p.Leu484Pro)
c.1337T>C (p.Leu446Pro)
c.1358T>C (p.Leu453Pro)
c.1491T>C (n.1491T>C)
c.1396T>C
c.1078T>C
c.620T>C (p.Leu207Pro)
c.*1186T>C (n.*1186T>C)
c.308T>C (p.Leu103Pro)
c.143T>C (p.Leu48Pro)
c.544T>C
c.1442T>C (p.Leu481Pro)
c.1433T>C (p.Leu478Pro)
c.1460T>C (p.Leu487Pro)
c.1457T>C (p.Leu486Pro)
c.1439T>C (p.Leu480Pro)
c.1382T>C (p.Leu461Pro)
c.1430T>C (p.Leu477Pro)
c.1436T>C (p.Leu479Pro)
c.1352T>C (p.Leu451Pro)
c.1280T>C (p.Leu427Pro)
c.575T>C (p.Leu192Pro)
 ClinVar
9g.137757961T>GCA375766244EHMT1c.1451T>G (p.Leu484Arg)
c.1337T>G (p.Leu446Arg)
c.1358T>G (p.Leu453Arg)
c.1491T>G (n.1491T>G)
c.1396T>G
c.1078T>G
c.620T>G (p.Leu207Arg)
c.*1186T>G (n.*1186T>G)
c.308T>G (p.Leu103Arg)
c.143T>G (p.Leu48Arg)
c.544T>G
c.1442T>G (p.Leu481Arg)
c.1433T>G (p.Leu478Arg)
c.1460T>G (p.Leu487Arg)
c.1457T>G (p.Leu486Arg)
c.1439T>G (p.Leu480Arg)
c.1382T>G (p.Leu461Arg)
c.1430T>G (p.Leu477Arg)
c.1436T>G (p.Leu479Arg)
c.1352T>G (p.Leu451Arg)
c.1280T>G (p.Leu427Arg)
c.575T>G (p.Leu192Arg)
 dbSNP
9g.137757961T=CA1884657138EHMT1c.1451T= (p.Leu484=)
c.1337T= (p.Leu446=)
c.1358T= (p.Leu453=)
c.1491T= (n.1491T=)
c.1396T=
c.1078T=
c.620T= (p.Leu207=)
c.*1186T= (n.*1186T=)
c.308T= (p.Leu103=)
c.143T= (p.Leu48=)
c.544T=
c.1442T= (p.Leu481=)
c.1433T= (p.Leu478=)
c.1460T= (p.Leu487=)
c.1457T= (p.Leu486=)
c.1439T= (p.Leu480=)
c.1382T= (p.Leu461=)
c.1430T= (p.Leu477=)
c.1436T= (p.Leu479=)
c.1352T= (p.Leu451=)
c.1280T= (p.Leu427=)
c.575T= (p.Leu192=)
9g.137757962G>ACA467873801EHMT1c.1452G>A (p.Leu484=)
c.1338G>A (p.Leu446=)
c.1359G>A (p.Leu453=)
c.1492G>A (n.1492G>A)
c.1397G>A
c.1079G>A
c.621G>A (p.Leu207=)
c.*1187G>A (n.*1187G>A)
c.309G>A (p.Leu103=)
c.144G>A (p.Leu48=)
c.545G>A
c.1443G>A (p.Leu481=)
c.1434G>A (p.Leu478=)
c.1461G>A (p.Leu487=)
c.1458G>A (p.Leu486=)
c.1440G>A (p.Leu480=)
c.1383G>A (p.Leu461=)
c.1431G>A (p.Leu477=)
c.1437G>A (p.Leu479=)
c.1353G>A (p.Leu451=)
c.1281G>A (p.Leu427=)
c.576G>A (p.Leu192=)
9g.137757962G>CCA467873803EHMT1c.1452G>C (p.Leu484=)
c.1338G>C (p.Leu446=)
c.1359G>C (p.Leu453=)
c.1492G>C (n.1492G>C)
c.1397G>C
c.1079G>C
c.621G>C (p.Leu207=)
c.*1187G>C (n.*1187G>C)
c.309G>C (p.Leu103=)
c.144G>C (p.Leu48=)
c.545G>C
c.1443G>C (p.Leu481=)
c.1434G>C (p.Leu478=)
c.1461G>C (p.Leu487=)
c.1458G>C (p.Leu486=)
c.1440G>C (p.Leu480=)
c.1383G>C (p.Leu461=)
c.1431G>C (p.Leu477=)
c.1437G>C (p.Leu479=)
c.1353G>C (p.Leu451=)
c.1281G>C (p.Leu427=)
c.576G>C (p.Leu192=)
9g.137757962G>TCA467873802EHMT1c.1452G>T (p.Leu484=)
c.1338G>T (p.Leu446=)
c.1359G>T (p.Leu453=)
c.1492G>T (n.1492G>T)
c.1397G>T
c.1079G>T
c.621G>T (p.Leu207=)
c.*1187G>T (n.*1187G>T)
c.309G>T (p.Leu103=)
c.144G>T (p.Leu48=)
c.545G>T
c.1443G>T (p.Leu481=)
c.1434G>T (p.Leu478=)
c.1461G>T (p.Leu487=)
c.1458G>T (p.Leu486=)
c.1440G>T (p.Leu480=)
c.1383G>T (p.Leu461=)
c.1431G>T (p.Leu477=)
c.1437G>T (p.Leu479=)
c.1353G>T (p.Leu451=)
c.1281G>T (p.Leu427=)
c.576G>T (p.Leu192=)
9g.137757963G>ACA375766247EHMT1c.1453G>A (p.Asp485Asn)
c.1339G>A (p.Asp447Asn)
c.1360G>A (p.Asp454Asn)
c.1493G>A (n.1493G>A)
c.1398G>A
c.1080G>A
c.622G>A (p.Asp208Asn)
c.*1188G>A (n.*1188G>A)
c.310G>A (p.Asp104Asn)
c.145G>A (p.Asp49Asn)
c.546G>A
c.1444G>A (p.Asp482Asn)
c.1435G>A (p.Asp479Asn)
c.1462G>A (p.Asp488Asn)
c.1459G>A (p.Asp487Asn)
c.1441G>A (p.Asp481Asn)
c.1384G>A (p.Asp462Asn)
c.1432G>A (p.Asp478Asn)
c.1438G>A (p.Asp480Asn)
c.1354G>A (p.Asp452Asn)
c.1282G>A (p.Asp428Asn)
c.577G>A (p.Asp193Asn)
9g.137757963G>CCA375766250EHMT1c.1453G>C (p.Asp485His)
c.1339G>C (p.Asp447His)
c.1360G>C (p.Asp454His)
c.1493G>C (n.1493G>C)
c.1398G>C
c.1080G>C
c.622G>C (p.Asp208His)
c.*1188G>C (n.*1188G>C)
c.310G>C (p.Asp104His)
c.145G>C (p.Asp49His)
c.546G>C
c.1444G>C (p.Asp482His)
c.1435G>C (p.Asp479His)
c.1462G>C (p.Asp488His)
c.1459G>C (p.Asp487His)
c.1441G>C (p.Asp481His)
c.1384G>C (p.Asp462His)
c.1432G>C (p.Asp478His)
c.1438G>C (p.Asp480His)
c.1354G>C (p.Asp452His)
c.1282G>C (p.Asp428His)
c.577G>C (p.Asp193His)
 gnomAD v4
9g.137757963G>TCA375766253EHMT1c.1453G>T (p.Asp485Tyr)
c.1339G>T (p.Asp447Tyr)
c.1360G>T (p.Asp454Tyr)
c.1493G>T (n.1493G>T)
c.1398G>T
c.1080G>T
c.622G>T (p.Asp208Tyr)
c.*1188G>T (n.*1188G>T)
c.310G>T (p.Asp104Tyr)
c.145G>T (p.Asp49Tyr)
c.546G>T
c.1444G>T (p.Asp482Tyr)
c.1435G>T (p.Asp479Tyr)
c.1462G>T (p.Asp488Tyr)
c.1459G>T (p.Asp487Tyr)
c.1441G>T (p.Asp481Tyr)
c.1384G>T (p.Asp462Tyr)
c.1432G>T (p.Asp478Tyr)
c.1438G>T (p.Asp480Tyr)
c.1354G>T (p.Asp452Tyr)
c.1282G>T (p.Asp428Tyr)
c.577G>T (p.Asp193Tyr)
9g.137757964A>CCA375766265EHMT1c.1454A>C (p.Asp485Ala)
c.1340A>C (p.Asp447Ala)
c.1361A>C (p.Asp454Ala)
c.1494A>C (n.1494A>C)
c.1399A>C
c.1081A>C
c.623A>C (p.Asp208Ala)
c.*1189A>C (n.*1189A>C)
c.311A>C (p.Asp104Ala)
c.146A>C (p.Asp49Ala)
c.547A>C
c.1445A>C (p.Asp482Ala)
c.1436A>C (p.Asp479Ala)
c.1463A>C (p.Asp488Ala)
c.1460A>C (p.Asp487Ala)
c.1442A>C (p.Asp481Ala)
c.1385A>C (p.Asp462Ala)
c.1433A>C (p.Asp478Ala)
c.1439A>C (p.Asp480Ala)
c.1355A>C (p.Asp452Ala)
c.1283A>C (p.Asp428Ala)
c.578A>C (p.Asp193Ala)
9g.137757964A>GCA375766258EHMT1c.1454A>G (p.Asp485Gly)
c.1340A>G (p.Asp447Gly)
c.1361A>G (p.Asp454Gly)
c.1494A>G (n.1494A>G)
c.1399A>G
c.1081A>G
c.623A>G (p.Asp208Gly)
c.*1189A>G (n.*1189A>G)
c.311A>G (p.Asp104Gly)
c.146A>G (p.Asp49Gly)
c.547A>G
c.1445A>G (p.Asp482Gly)
c.1436A>G (p.Asp479Gly)
c.1463A>G (p.Asp488Gly)
c.1460A>G (p.Asp487Gly)
c.1442A>G (p.Asp481Gly)
c.1385A>G (p.Asp462Gly)
c.1433A>G (p.Asp478Gly)
c.1439A>G (p.Asp480Gly)
c.1355A>G (p.Asp452Gly)
c.1283A>G (p.Asp428Gly)
c.578A>G (p.Asp193Gly)
9g.137757964A>TCA375766255EHMT1c.1454A>T (p.Asp485Val)
c.1340A>T (p.Asp447Val)
c.1361A>T (p.Asp454Val)
c.1494A>T (n.1494A>T)
c.1399A>T
c.1081A>T
c.623A>T (p.Asp208Val)
c.*1189A>T (n.*1189A>T)
c.311A>T (p.Asp104Val)
c.146A>T (p.Asp49Val)
c.547A>T
c.1445A>T (p.Asp482Val)
c.1436A>T (p.Asp479Val)
c.1463A>T (p.Asp488Val)
c.1460A>T (p.Asp487Val)
c.1442A>T (p.Asp481Val)
c.1385A>T (p.Asp462Val)
c.1433A>T (p.Asp478Val)
c.1439A>T (p.Asp480Val)
c.1355A>T (p.Asp452Val)
c.1283A>T (p.Asp428Val)
c.578A>T (p.Asp193Val)
9g.137757965C>ACA375766266EHMT1c.1455C>A (p.Asp485Glu)
c.1341C>A (p.Asp447Glu)
c.1362C>A (p.Asp454Glu)
c.1495C>A (n.1495C>A)
c.1400C>A
c.1082C>A
c.624C>A (p.Asp208Glu)
c.*1190C>A (n.*1190C>A)
c.312C>A (p.Asp104Glu)
c.147C>A (p.Asp49Glu)
c.548C>A
c.1446C>A (p.Asp482Glu)
c.1437C>A (p.Asp479Glu)
c.1464C>A (p.Asp488Glu)
c.1461C>A (p.Asp487Glu)
c.1443C>A (p.Asp481Glu)
c.1386C>A (p.Asp462Glu)
c.1434C>A (p.Asp478Glu)
c.1440C>A (p.Asp480Glu)
c.1356C>A (p.Asp452Glu)
c.1284C>A (p.Asp428Glu)
c.579C>A (p.Asp193Glu)
9g.137757965C=CA1884657139EHMT1c.1455C= (p.Asp485=)
c.1341C= (p.Asp447=)
c.1362C= (p.Asp454=)
c.1495C= (n.1495C=)
c.1400C=
c.1082C=
c.624C= (p.Asp208=)
c.*1190C= (n.*1190C=)
c.312C= (p.Asp104=)
c.147C= (p.Asp49=)
c.548C=
c.1446C= (p.Asp482=)
c.1437C= (p.Asp479=)
c.1464C= (p.Asp488=)
c.1461C= (p.Asp487=)
c.1443C= (p.Asp481=)
c.1386C= (p.Asp462=)
c.1434C= (p.Asp478=)
c.1440C= (p.Asp480=)
c.1356C= (p.Asp452=)
c.1284C= (p.Asp428=)
c.579C= (p.Asp193=)
9g.137757965C>GCA375766267EHMT1c.1455C>G (p.Asp485Glu)
c.1341C>G (p.Asp447Glu)
c.1362C>G (p.Asp454Glu)
c.1495C>G (n.1495C>G)
c.1400C>G
c.1082C>G
c.624C>G (p.Asp208Glu)
c.*1190C>G (n.*1190C>G)
c.312C>G (p.Asp104Glu)
c.147C>G (p.Asp49Glu)
c.548C>G
c.1446C>G (p.Asp482Glu)
c.1437C>G (p.Asp479Glu)
c.1464C>G (p.Asp488Glu)
c.1461C>G (p.Asp487Glu)
c.1443C>G (p.Asp481Glu)
c.1386C>G (p.Asp462Glu)
c.1434C>G (p.Asp478Glu)
c.1440C>G (p.Asp480Glu)
c.1356C>G (p.Asp452Glu)
c.1284C>G (p.Asp428Glu)
c.579C>G (p.Asp193Glu)
9g.137757965C>TCA5374626EHMT1c.1455C>T (p.Asp485=)
c.1341C>T (p.Asp447=)
c.1362C>T (p.Asp454=)
c.1495C>T (n.1495C>T)
c.1400C>T
c.1082C>T
c.624C>T (p.Asp208=)
c.*1190C>T (n.*1190C>T)
c.312C>T (p.Asp104=)
c.147C>T (p.Asp49=)
c.548C>T
c.1446C>T (p.Asp482=)
c.1437C>T (p.Asp479=)
c.1464C>T (p.Asp488=)
c.1461C>T (p.Asp487=)
c.1443C>T (p.Asp481=)
c.1386C>T (p.Asp462=)
c.1434C>T (p.Asp478=)
c.1440C>T (p.Asp480=)
c.1356C>T (p.Asp452=)
c.1284C>T (p.Asp428=)
c.579C>T (p.Asp193=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137757966T>ACA375766272EHMT1c.1456T>A (p.Ser486Thr)
c.1342T>A (p.Ser448Thr)
c.1363T>A (p.Ser455Thr)
c.1496T>A (n.1496T>A)
c.1401T>A
c.1083T>A
c.625T>A (p.Ser209Thr)
c.*1191T>A (n.*1191T>A)
c.313T>A (p.Ser105Thr)
c.148T>A (p.Ser50Thr)
c.549T>A
c.1447T>A (p.Ser483Thr)
c.1438T>A (p.Ser480Thr)
c.1465T>A (p.Ser489Thr)
c.1462T>A (p.Ser488Thr)
c.1444T>A (p.Ser482Thr)
c.1387T>A (p.Ser463Thr)
c.1435T>A (p.Ser479Thr)
c.1441T>A (p.Ser481Thr)
c.1357T>A (p.Ser453Thr)
c.1285T>A (p.Ser429Thr)
c.580T>A (p.Ser194Thr)
 gnomAD v4
9g.137757966T>CCA375766275EHMT1c.1456T>C (p.Ser486Pro)
c.1342T>C (p.Ser448Pro)
c.1363T>C (p.Ser455Pro)
c.1496T>C (n.1496T>C)
c.1401T>C
c.1083T>C
c.625T>C (p.Ser209Pro)
c.*1191T>C (n.*1191T>C)
c.313T>C (p.Ser105Pro)
c.148T>C (p.Ser50Pro)
c.549T>C
c.1447T>C (p.Ser483Pro)
c.1438T>C (p.Ser480Pro)
c.1465T>C (p.Ser489Pro)
c.1462T>C (p.Ser488Pro)
c.1444T>C (p.Ser482Pro)
c.1387T>C (p.Ser463Pro)
c.1435T>C (p.Ser479Pro)
c.1441T>C (p.Ser481Pro)
c.1357T>C (p.Ser453Pro)
c.1285T>C (p.Ser429Pro)
c.580T>C (p.Ser194Pro)
9g.137757966T>GCA375766277EHMT1c.1456T>G (p.Ser486Ala)
c.1342T>G (p.Ser448Ala)
c.1363T>G (p.Ser455Ala)
c.1496T>G (n.1496T>G)
c.1401T>G
c.1083T>G
c.625T>G (p.Ser209Ala)
c.*1191T>G (n.*1191T>G)
c.313T>G (p.Ser105Ala)
c.148T>G (p.Ser50Ala)
c.549T>G
c.1447T>G (p.Ser483Ala)
c.1438T>G (p.Ser480Ala)
c.1465T>G (p.Ser489Ala)
c.1462T>G (p.Ser488Ala)
c.1444T>G (p.Ser482Ala)
c.1387T>G (p.Ser463Ala)
c.1435T>G (p.Ser479Ala)
c.1441T>G (p.Ser481Ala)
c.1357T>G (p.Ser453Ala)
c.1285T>G (p.Ser429Ala)
c.580T>G (p.Ser194Ala)
9g.137757966_137757967delinsAACA891842588EHMT1c.1456_1457delinsAA (p.Ser486Asn)
c.1342_1343delinsAA (p.Ser448Asn)
c.1363_1364delinsAA (p.Ser455Asn)
c.1496_1497delinsAA (n.1496_1497delinsAA)
c.1401_1402delinsAA
c.1083_1084delinsAA
c.625_626delinsAA (p.Ser209Asn)
c.*1191_*1192delinsAA (n.*1191_*1192delinsAA)
c.313_314delinsAA (p.Ser105Asn)
c.148_149delinsAA (p.Ser50Asn)
c.549_550delinsAA
c.1447_1448delinsAA (p.Ser483Asn)
c.1438_1439delinsAA (p.Ser480Asn)
c.1465_1466delinsAA (p.Ser489Asn)
c.1462_1463delinsAA (p.Ser488Asn)
c.1444_1445delinsAA (p.Ser482Asn)
c.1387_1388delinsAA (p.Ser463Asn)
c.1435_1436delinsAA (p.Ser479Asn)
c.1441_1442delinsAA (p.Ser481Asn)
c.1357_1358delinsAA (p.Ser453Asn)
c.1285_1286delinsAA (p.Ser429Asn)
c.580_581delinsAA (p.Ser194Asn)
 ClinVar dbSNP
9g.137757966_137757967delinsTCCA1884657140EHMT1c.1456_1457delinsTC (p.Ser486=)
c.1342_1343delinsTC (p.Ser448=)
c.1363_1364delinsTC (p.Ser455=)
c.1496_1497delinsTC (n.1496_1497delinsTC)
c.1401_1402delinsTC
c.1083_1084delinsTC
c.625_626delinsTC (p.Ser209=)
c.*1191_*1192delinsTC (n.*1191_*1192delinsTC)
c.313_314delinsTC (p.Ser105=)
c.148_149delinsTC (p.Ser50=)
c.549_550delinsTC
c.1447_1448delinsTC (p.Ser483=)
c.1438_1439delinsTC (p.Ser480=)
c.1465_1466delinsTC (p.Ser489=)
c.1462_1463delinsTC (p.Ser488=)
c.1444_1445delinsTC (p.Ser482=)
c.1387_1388delinsTC (p.Ser463=)
c.1435_1436delinsTC (p.Ser479=)
c.1441_1442delinsTC (p.Ser481=)
c.1357_1358delinsTC (p.Ser453=)
c.1285_1286delinsTC (p.Ser429=)
c.580_581delinsTC (p.Ser194=)
9g.137757967C>ACA375766287EHMT1c.1457C>A (p.Ser486Tyr)
c.1343C>A (p.Ser448Tyr)
c.1364C>A (p.Ser455Tyr)
c.1497C>A (n.1497C>A)
c.1402C>A
c.1084C>A
c.626C>A (p.Ser209Tyr)
c.*1192C>A (n.*1192C>A)
c.314C>A (p.Ser105Tyr)
c.149C>A (p.Ser50Tyr)
c.550C>A
c.1448C>A (p.Ser483Tyr)
c.1439C>A (p.Ser480Tyr)
c.1466C>A (p.Ser489Tyr)
c.1463C>A (p.Ser488Tyr)
c.1445C>A (p.Ser482Tyr)
c.1388C>A (p.Ser463Tyr)
c.1436C>A (p.Ser479Tyr)
c.1442C>A (p.Ser481Tyr)
c.1358C>A (p.Ser453Tyr)
c.1286C>A (p.Ser429Tyr)
c.581C>A (p.Ser194Tyr)
9g.137757967C>GCA375766290EHMT1c.1457C>G (p.Ser486Cys)
c.1343C>G (p.Ser448Cys)
c.1364C>G (p.Ser455Cys)
c.1497C>G (n.1497C>G)
c.1402C>G
c.1084C>G
c.626C>G (p.Ser209Cys)
c.*1192C>G (n.*1192C>G)
c.314C>G (p.Ser105Cys)
c.149C>G (p.Ser50Cys)
c.550C>G
c.1448C>G (p.Ser483Cys)
c.1439C>G (p.Ser480Cys)
c.1466C>G (p.Ser489Cys)
c.1463C>G (p.Ser488Cys)
c.1445C>G (p.Ser482Cys)
c.1388C>G (p.Ser463Cys)
c.1436C>G (p.Ser479Cys)
c.1442C>G (p.Ser481Cys)
c.1358C>G (p.Ser453Cys)
c.1286C>G (p.Ser429Cys)
c.581C>G (p.Ser194Cys)
9g.137757967C>TCA375766294EHMT1c.1457C>T (p.Ser486Phe)
c.1343C>T (p.Ser448Phe)
c.1364C>T (p.Ser455Phe)
c.1497C>T (n.1497C>T)
c.1402C>T
c.1084C>T
c.626C>T (p.Ser209Phe)
c.*1192C>T (n.*1192C>T)
c.314C>T (p.Ser105Phe)
c.149C>T (p.Ser50Phe)
c.550C>T
c.1448C>T (p.Ser483Phe)
c.1439C>T (p.Ser480Phe)
c.1466C>T (p.Ser489Phe)
c.1463C>T (p.Ser488Phe)
c.1445C>T (p.Ser482Phe)
c.1388C>T (p.Ser463Phe)
c.1436C>T (p.Ser479Phe)
c.1442C>T (p.Ser481Phe)
c.1358C>T (p.Ser453Phe)
c.1286C>T (p.Ser429Phe)
c.581C>T (p.Ser194Phe)
 gnomAD v4 COSMIC COSMIC COSMIC
9g.137757968C>ACA5374628EHMT1c.1458C>A (p.Ser486=)
c.1344C>A (p.Ser448=)
c.1365C>A (p.Ser455=)
c.1498C>A (n.1498C>A)
c.1403C>A
c.1085C>A
c.627C>A (p.Ser209=)
c.*1193C>A (n.*1193C>A)
c.315C>A (p.Ser105=)
c.150C>A (p.Ser50=)
c.551C>A
c.1449C>A (p.Ser483=)
c.1440C>A (p.Ser480=)
c.1467C>A (p.Ser489=)
c.1464C>A (p.Ser488=)
c.1446C>A (p.Ser482=)
c.1389C>A (p.Ser463=)
c.1437C>A (p.Ser479=)
c.1443C>A (p.Ser481=)
c.1359C>A (p.Ser453=)
c.1287C>A (p.Ser429=)
c.582C>A (p.Ser194=)
 ClinVar dbSNP ExAC gnomAD v2
9g.137757968C=CA1884657141EHMT1c.1458C= (p.Ser486=)
c.1344C= (p.Ser448=)
c.1365C= (p.Ser455=)
c.1498C= (n.1498C=)
c.1403C=
c.1085C=
c.627C= (p.Ser209=)
c.*1193C= (n.*1193C=)
c.315C= (p.Ser105=)
c.150C= (p.Ser50=)
c.551C=
c.1449C= (p.Ser483=)
c.1440C= (p.Ser480=)
c.1467C= (p.Ser489=)
c.1464C= (p.Ser488=)
c.1446C= (p.Ser482=)
c.1389C= (p.Ser463=)
c.1437C= (p.Ser479=)
c.1443C= (p.Ser481=)
c.1359C= (p.Ser453=)
c.1287C= (p.Ser429=)
c.582C= (p.Ser194=)
9g.137757968C>GCA467873804EHMT1c.1458C>G (p.Ser486=)
c.1344C>G (p.Ser448=)
c.1365C>G (p.Ser455=)
c.1498C>G (n.1498C>G)
c.1403C>G
c.1085C>G
c.627C>G (p.Ser209=)
c.*1193C>G (n.*1193C>G)
c.315C>G (p.Ser105=)
c.150C>G (p.Ser50=)
c.551C>G
c.1449C>G (p.Ser483=)
c.1440C>G (p.Ser480=)
c.1467C>G (p.Ser489=)
c.1464C>G (p.Ser488=)
c.1446C>G (p.Ser482=)
c.1389C>G (p.Ser463=)
c.1437C>G (p.Ser479=)
c.1443C>G (p.Ser481=)
c.1359C>G (p.Ser453=)
c.1287C>G (p.Ser429=)
c.582C>G (p.Ser194=)
9g.137757968C>TCA5374627EHMT1c.1458C>T (p.Ser486=)
c.1344C>T (p.Ser448=)
c.1365C>T (p.Ser455=)
c.1498C>T (n.1498C>T)
c.1403C>T
c.1085C>T
c.627C>T (p.Ser209=)
c.*1193C>T (n.*1193C>T)
c.315C>T (p.Ser105=)
c.150C>T (p.Ser50=)
c.551C>T
c.1449C>T (p.Ser483=)
c.1440C>T (p.Ser480=)
c.1467C>T (p.Ser489=)
c.1464C>T (p.Ser488=)
c.1446C>T (p.Ser482=)
c.1389C>T (p.Ser463=)
c.1437C>T (p.Ser479=)
c.1443C>T (p.Ser481=)
c.1359C>T (p.Ser453=)
c.1287C>T (p.Ser429=)
c.582C>T (p.Ser194=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137757969C>ACA375766300EHMT1c.1459C>A (p.Leu487Met)
c.1345C>A (p.Leu449Met)
c.1366C>A (p.Leu456Met)
c.1499C>A (n.1499C>A)
c.1404C>A
c.1086C>A
c.628C>A (p.Leu210Met)
c.*1194C>A (n.*1194C>A)
c.316C>A (p.Leu106Met)
c.151C>A (p.Leu51Met)
c.552C>A
c.1450C>A (p.Leu484Met)
c.1441C>A (p.Leu481Met)
c.1468C>A (p.Leu490Met)
c.1465C>A (p.Leu489Met)
c.1447C>A (p.Leu483Met)
c.1390C>A (p.Leu464Met)
c.1438C>A (p.Leu480Met)
c.1444C>A (p.Leu482Met)
c.1360C>A (p.Leu454Met)
c.1288C>A (p.Leu430Met)
c.583C>A (p.Leu195Met)
9g.137757969C=CA1884657142EHMT1c.1459C= (p.Leu487=)
c.1345C= (p.Leu449=)
c.1366C= (p.Leu456=)
c.1499C= (n.1499C=)
c.1404C=
c.1086C=
c.628C= (p.Leu210=)
c.*1194C= (n.*1194C=)
c.316C= (p.Leu106=)
c.151C= (p.Leu51=)
c.552C=
c.1450C= (p.Leu484=)
c.1441C= (p.Leu481=)
c.1468C= (p.Leu490=)
c.1465C= (p.Leu489=)
c.1447C= (p.Leu483=)
c.1390C= (p.Leu464=)
c.1438C= (p.Leu480=)
c.1444C= (p.Leu482=)
c.1360C= (p.Leu454=)
c.1288C= (p.Leu430=)
c.583C= (p.Leu195=)
9g.137757969C>GCA375766302EHMT1c.1459C>G (p.Leu487Val)
c.1345C>G (p.Leu449Val)
c.1366C>G (p.Leu456Val)
c.1499C>G (n.1499C>G)
c.1404C>G
c.1086C>G
c.628C>G (p.Leu210Val)
c.*1194C>G (n.*1194C>G)
c.316C>G (p.Leu106Val)
c.151C>G (p.Leu51Val)
c.552C>G
c.1450C>G (p.Leu484Val)
c.1441C>G (p.Leu481Val)
c.1468C>G (p.Leu490Val)
c.1465C>G (p.Leu489Val)
c.1447C>G (p.Leu483Val)
c.1390C>G (p.Leu464Val)
c.1438C>G (p.Leu480Val)
c.1444C>G (p.Leu482Val)
c.1360C>G (p.Leu454Val)
c.1288C>G (p.Leu430Val)
c.583C>G (p.Leu195Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.137757969C>TCA467873805EHMT1c.1459C>T (p.Leu487=)
c.1345C>T (p.Leu449=)
c.1366C>T (p.Leu456=)
c.1499C>T (n.1499C>T)
c.1404C>T
c.1086C>T
c.628C>T (p.Leu210=)
c.*1194C>T (n.*1194C>T)
c.316C>T (p.Leu106=)
c.151C>T (p.Leu51=)
c.552C>T
c.1450C>T (p.Leu484=)
c.1441C>T (p.Leu481=)
c.1468C>T (p.Leu490=)
c.1465C>T (p.Leu489=)
c.1447C>T (p.Leu483=)
c.1390C>T (p.Leu464=)
c.1438C>T (p.Leu480=)
c.1444C>T (p.Leu482=)
c.1360C>T (p.Leu454=)
c.1288C>T (p.Leu430=)
c.583C>T (p.Leu195=)
 gnomAD v4
9g.137757970T>ACA375766315EHMT1c.1460T>A (p.Leu487Gln)
c.1346T>A (p.Leu449Gln)
c.1367T>A (p.Leu456Gln)
c.1500T>A (n.1500T>A)
c.1405T>A
c.1087T>A
c.629T>A (p.Leu210Gln)
c.*1195T>A (n.*1195T>A)
c.317T>A (p.Leu106Gln)
c.152T>A (p.Leu51Gln)
c.553T>A
c.1451T>A (p.Leu484Gln)
c.1442T>A (p.Leu481Gln)
c.1469T>A (p.Leu490Gln)
c.1466T>A (p.Leu489Gln)
c.1448T>A (p.Leu483Gln)
c.1391T>A (p.Leu464Gln)
c.1439T>A (p.Leu480Gln)
c.1445T>A (p.Leu482Gln)
c.1361T>A (p.Leu454Gln)
c.1289T>A (p.Leu430Gln)
c.584T>A (p.Leu195Gln)
 gnomAD v4
9g.137757970T>CCA375766308EHMT1c.1460T>C (p.Leu487Pro)
c.1346T>C (p.Leu449Pro)
c.1367T>C (p.Leu456Pro)
c.1500T>C (n.1500T>C)
c.1405T>C
c.1087T>C
c.629T>C (p.Leu210Pro)
c.*1195T>C (n.*1195T>C)
c.317T>C (p.Leu106Pro)
c.152T>C (p.Leu51Pro)
c.553T>C
c.1451T>C (p.Leu484Pro)
c.1442T>C (p.Leu481Pro)
c.1469T>C (p.Leu490Pro)
c.1466T>C (p.Leu489Pro)
c.1448T>C (p.Leu483Pro)
c.1391T>C (p.Leu464Pro)
c.1439T>C (p.Leu480Pro)
c.1445T>C (p.Leu482Pro)
c.1361T>C (p.Leu454Pro)
c.1289T>C (p.Leu430Pro)
c.584T>C (p.Leu195Pro)
9g.137757970T>GCA375766314EHMT1c.1460T>G (p.Leu487Arg)
c.1346T>G (p.Leu449Arg)
c.1367T>G (p.Leu456Arg)
c.1500T>G (n.1500T>G)
c.1405T>G
c.1087T>G
c.629T>G (p.Leu210Arg)
c.*1195T>G (n.*1195T>G)
c.317T>G (p.Leu106Arg)
c.152T>G (p.Leu51Arg)
c.553T>G
c.1451T>G (p.Leu484Arg)
c.1442T>G (p.Leu481Arg)
c.1469T>G (p.Leu490Arg)
c.1466T>G (p.Leu489Arg)
c.1448T>G (p.Leu483Arg)
c.1391T>G (p.Leu464Arg)
c.1439T>G (p.Leu480Arg)
c.1445T>G (p.Leu482Arg)
c.1361T>G (p.Leu454Arg)
c.1289T>G (p.Leu430Arg)
c.584T>G (p.Leu195Arg)
9g.137757971G>ACA467873808EHMT1c.1461G>A (p.Leu487=)
c.1347G>A (p.Leu449=)
c.1368G>A (p.Leu456=)
c.1501G>A (n.1501G>A)
c.1406G>A
c.1088G>A
c.630G>A (p.Leu210=)
c.*1196G>A (n.*1196G>A)
c.318G>A (p.Leu106=)
c.153G>A (p.Leu51=)
c.554G>A
c.1452G>A (p.Leu484=)
c.1443G>A (p.Leu481=)
c.1470G>A (p.Leu490=)
c.1467G>A (p.Leu489=)
c.1449G>A (p.Leu483=)
c.1392G>A (p.Leu464=)
c.1440G>A (p.Leu480=)
c.1446G>A (p.Leu482=)
c.1362G>A (p.Leu454=)
c.1290G>A (p.Leu430=)
c.585G>A (p.Leu195=)
 dbSNP
9g.137757971G>CCA467873806EHMT1c.1461G>C (p.Leu487=)
c.1347G>C (p.Leu449=)
c.1368G>C (p.Leu456=)
c.1501G>C (n.1501G>C)
c.1406G>C
c.1088G>C
c.630G>C (p.Leu210=)
c.*1196G>C (n.*1196G>C)
c.318G>C (p.Leu106=)
c.153G>C (p.Leu51=)
c.554G>C
c.1452G>C (p.Leu484=)
c.1443G>C (p.Leu481=)
c.1470G>C (p.Leu490=)
c.1467G>C (p.Leu489=)
c.1449G>C (p.Leu483=)
c.1392G>C (p.Leu464=)
c.1440G>C (p.Leu480=)
c.1446G>C (p.Leu482=)
c.1362G>C (p.Leu454=)
c.1290G>C (p.Leu430=)
c.585G>C (p.Leu195=)
9g.137757971G=CA1884657143EHMT1c.1461G= (p.Leu487=)
c.1347G= (p.Leu449=)
c.1368G= (p.Leu456=)
c.1501G= (n.1501G=)
c.1406G=
c.1088G=
c.630G= (p.Leu210=)
c.*1196G= (n.*1196G=)
c.318G= (p.Leu106=)
c.153G= (p.Leu51=)
c.554G=
c.1452G= (p.Leu484=)
c.1443G= (p.Leu481=)
c.1470G= (p.Leu490=)
c.1467G= (p.Leu489=)
c.1449G= (p.Leu483=)
c.1392G= (p.Leu464=)
c.1440G= (p.Leu480=)
c.1446G= (p.Leu482=)
c.1362G= (p.Leu454=)
c.1290G= (p.Leu430=)
c.585G= (p.Leu195=)
9g.137757971G>TCA467873807EHMT1c.1461G>T (p.Leu487=)
c.1347G>T (p.Leu449=)
c.1368G>T (p.Leu456=)
c.1501G>T (n.1501G>T)
c.1406G>T
c.1088G>T
c.630G>T (p.Leu210=)
c.*1196G>T (n.*1196G>T)
c.318G>T (p.Leu106=)
c.153G>T (p.Leu51=)
c.554G>T
c.1452G>T (p.Leu484=)
c.1443G>T (p.Leu481=)
c.1470G>T (p.Leu490=)
c.1467G>T (p.Leu489=)
c.1449G>T (p.Leu483=)
c.1392G>T (p.Leu464=)
c.1440G>T (p.Leu480=)
c.1446G>T (p.Leu482=)
c.1362G>T (p.Leu454=)
c.1290G>T (p.Leu430=)
c.585G>T (p.Leu195=)
9g.137757972G>ACA375766318EHMT1c.1462G>A (p.Asp488Asn)
c.1348G>A (p.Asp450Asn)
c.1369G>A (p.Asp457Asn)
c.1502G>A (n.1502G>A)
c.1407G>A
c.1089G>A
c.631G>A (p.Asp211Asn)
c.*1197G>A (n.*1197G>A)
c.319G>A (p.Asp107Asn)
c.154G>A (p.Asp52Asn)
c.555G>A
c.1453G>A (p.Asp485Asn)
c.1444G>A (p.Asp482Asn)
c.1471G>A (p.Asp491Asn)
c.1468G>A (p.Asp490Asn)
c.1450G>A (p.Asp484Asn)
c.1393G>A (p.Asp465Asn)
c.1441G>A (p.Asp481Asn)
c.1447G>A (p.Asp483Asn)
c.1363G>A (p.Asp455Asn)
c.1291G>A (p.Asp431Asn)
c.586G>A (p.Asp196Asn)
 gnomAD v4
9g.137757972G>CCA375766319EHMT1c.1462G>C (p.Asp488His)
c.1348G>C (p.Asp450His)
c.1369G>C (p.Asp457His)
c.1502G>C (n.1502G>C)
c.1407G>C
c.1089G>C
c.631G>C (p.Asp211His)
c.*1197G>C (n.*1197G>C)
c.319G>C (p.Asp107His)
c.154G>C (p.Asp52His)
c.555G>C
c.1453G>C (p.Asp485His)
c.1444G>C (p.Asp482His)
c.1471G>C (p.Asp491His)
c.1468G>C (p.Asp490His)
c.1450G>C (p.Asp484His)
c.1393G>C (p.Asp465His)
c.1441G>C (p.Asp481His)
c.1447G>C (p.Asp483His)
c.1363G>C (p.Asp455His)
c.1291G>C (p.Asp431His)
c.586G>C (p.Asp196His)
 gnomAD v4
9g.137757972G>TCA375766320EHMT1c.1462G>T (p.Asp488Tyr)
c.1348G>T (p.Asp450Tyr)
c.1369G>T (p.Asp457Tyr)
c.1502G>T (n.1502G>T)
c.1407G>T
c.1089G>T
c.631G>T (p.Asp211Tyr)
c.*1197G>T (n.*1197G>T)
c.319G>T (p.Asp107Tyr)
c.154G>T (p.Asp52Tyr)
c.555G>T
c.1453G>T (p.Asp485Tyr)
c.1444G>T (p.Asp482Tyr)
c.1471G>T (p.Asp491Tyr)
c.1468G>T (p.Asp490Tyr)
c.1450G>T (p.Asp484Tyr)
c.1393G>T (p.Asp465Tyr)
c.1441G>T (p.Asp481Tyr)
c.1447G>T (p.Asp483Tyr)
c.1363G>T (p.Asp455Tyr)
c.1291G>T (p.Asp431Tyr)
c.586G>T (p.Asp196Tyr)
9g.137757973A>CCA375766321EHMT1c.1463A>C (p.Asp488Ala)
c.1349A>C (p.Asp450Ala)
c.1370A>C (p.Asp457Ala)
c.1503A>C (n.1503A>C)
c.1408A>C
c.1090A>C
c.632A>C (p.Asp211Ala)
c.*1198A>C (n.*1198A>C)
c.320A>C (p.Asp107Ala)
c.155A>C (p.Asp52Ala)
c.556A>C
c.1454A>C (p.Asp485Ala)
c.1445A>C (p.Asp482Ala)
c.1472A>C (p.Asp491Ala)
c.1469A>C (p.Asp490Ala)
c.1451A>C (p.Asp484Ala)
c.1394A>C (p.Asp465Ala)
c.1442A>C (p.Asp481Ala)
c.1448A>C (p.Asp483Ala)
c.1364A>C (p.Asp455Ala)
c.1292A>C (p.Asp431Ala)
c.587A>C (p.Asp196Ala)
9g.137757973A>GCA375766322EHMT1c.1463A>G (p.Asp488Gly)
c.1349A>G (p.Asp450Gly)
c.1370A>G (p.Asp457Gly)
c.1503A>G (n.1503A>G)
c.1408A>G
c.1090A>G
c.632A>G (p.Asp211Gly)
c.*1198A>G (n.*1198A>G)
c.320A>G (p.Asp107Gly)
c.155A>G (p.Asp52Gly)
c.556A>G
c.1454A>G (p.Asp485Gly)
c.1445A>G (p.Asp482Gly)
c.1472A>G (p.Asp491Gly)
c.1469A>G (p.Asp490Gly)
c.1451A>G (p.Asp484Gly)
c.1394A>G (p.Asp465Gly)
c.1442A>G (p.Asp481Gly)
c.1448A>G (p.Asp483Gly)
c.1364A>G (p.Asp455Gly)
c.1292A>G (p.Asp431Gly)
c.587A>G (p.Asp196Gly)
9g.137757973A>TCA375766324EHMT1c.1463A>T (p.Asp488Val)
c.1349A>T (p.Asp450Val)
c.1370A>T (p.Asp457Val)
c.1503A>T (n.1503A>T)
c.1408A>T
c.1090A>T
c.632A>T (p.Asp211Val)
c.*1198A>T (n.*1198A>T)
c.320A>T (p.Asp107Val)
c.155A>T (p.Asp52Val)
c.556A>T
c.1454A>T (p.Asp485Val)
c.1445A>T (p.Asp482Val)
c.1472A>T (p.Asp491Val)
c.1469A>T (p.Asp490Val)
c.1451A>T (p.Asp484Val)
c.1394A>T (p.Asp465Val)
c.1442A>T (p.Asp481Val)
c.1448A>T (p.Asp483Val)
c.1364A>T (p.Asp455Val)
c.1292A>T (p.Asp431Val)
c.587A>T (p.Asp196Val)
9g.137757974T>ACA375766327EHMT1c.1464T>A (p.Asp488Glu)
c.1350T>A (p.Asp450Glu)
c.1371T>A (p.Asp457Glu)
c.1504T>A (n.1504T>A)
c.1409T>A
c.1091T>A
c.633T>A (p.Asp211Glu)
c.*1199T>A (n.*1199T>A)
c.321T>A (p.Asp107Glu)
c.156T>A (p.Asp52Glu)
c.557T>A
c.1455T>A (p.Asp485Glu)
c.1446T>A (p.Asp482Glu)
c.1473T>A (p.Asp491Glu)
c.1470T>A (p.Asp490Glu)
c.1452T>A (p.Asp484Glu)
c.1395T>A (p.Asp465Glu)
c.1443T>A (p.Asp481Glu)
c.1449T>A (p.Asp483Glu)
c.1365T>A (p.Asp455Glu)
c.1293T>A (p.Asp431Glu)
c.588T>A (p.Asp196Glu)
9g.137757974T>CCA467873809EHMT1c.1464T>C (p.Asp488=)
c.1350T>C (p.Asp450=)
c.1371T>C (p.Asp457=)
c.1504T>C (n.1504T>C)
c.1409T>C
c.1091T>C
c.633T>C (p.Asp211=)
c.*1199T>C (n.*1199T>C)
c.321T>C (p.Asp107=)
c.156T>C (p.Asp52=)
c.557T>C
c.1455T>C (p.Asp485=)
c.1446T>C (p.Asp482=)
c.1473T>C (p.Asp491=)
c.1470T>C (p.Asp490=)
c.1452T>C (p.Asp484=)
c.1395T>C (p.Asp465=)
c.1443T>C (p.Asp481=)
c.1449T>C (p.Asp483=)
c.1365T>C (p.Asp455=)
c.1293T>C (p.Asp431=)
c.588T>C (p.Asp196=)
9g.137757974T>GCA375766328EHMT1c.1464T>G (p.Asp488Glu)
c.1350T>G (p.Asp450Glu)
c.1371T>G (p.Asp457Glu)
c.1504T>G (n.1504T>G)
c.1409T>G
c.1091T>G
c.633T>G (p.Asp211Glu)
c.*1199T>G (n.*1199T>G)
c.321T>G (p.Asp107Glu)
c.156T>G (p.Asp52Glu)
c.557T>G
c.1455T>G (p.Asp485Glu)
c.1446T>G (p.Asp482Glu)
c.1473T>G (p.Asp491Glu)
c.1470T>G (p.Asp490Glu)
c.1452T>G (p.Asp484Glu)
c.1395T>G (p.Asp465Glu)
c.1443T>G (p.Asp481Glu)
c.1449T>G (p.Asp483Glu)
c.1365T>G (p.Asp455Glu)
c.1293T>G (p.Asp431Glu)
c.588T>G (p.Asp196Glu)
9g.137757975C>ACA375766340EHMT1c.1465C>A (p.Leu489Ile)
c.1351C>A (p.Leu451Ile)
c.1372C>A (p.Leu458Ile)
c.1505C>A (n.1505C>A)
c.1410C>A
c.1092C>A
c.634C>A (p.Leu212Ile)
c.*1200C>A (n.*1200C>A)
c.322C>A (p.Leu108Ile)
c.157C>A (p.Leu53Ile)
c.558C>A
c.1456C>A (p.Leu486Ile)
c.1447C>A (p.Leu483Ile)
c.1474C>A (p.Leu492Ile)
c.1471C>A (p.Leu491Ile)
c.1453C>A (p.Leu485Ile)
c.1396C>A (p.Leu466Ile)
c.1444C>A (p.Leu482Ile)
c.1450C>A (p.Leu484Ile)
c.1366C>A (p.Leu456Ile)
c.1294C>A (p.Leu432Ile)
c.589C>A (p.Leu197Ile)
9g.137757975C>GCA375766347EHMT1c.1465C>G (p.Leu489Val)
c.1351C>G (p.Leu451Val)
c.1372C>G (p.Leu458Val)
c.1505C>G (n.1505C>G)
c.1410C>G
c.1092C>G
c.634C>G (p.Leu212Val)
c.*1200C>G (n.*1200C>G)
c.322C>G (p.Leu108Val)
c.157C>G (p.Leu53Val)
c.558C>G
c.1456C>G (p.Leu486Val)
c.1447C>G (p.Leu483Val)
c.1474C>G (p.Leu492Val)
c.1471C>G (p.Leu491Val)
c.1453C>G (p.Leu485Val)
c.1396C>G (p.Leu466Val)
c.1444C>G (p.Leu482Val)
c.1450C>G (p.Leu484Val)
c.1366C>G (p.Leu456Val)
c.1294C>G (p.Leu432Val)
c.589C>G (p.Leu197Val)
9g.137757975C>TCA375766351EHMT1c.1465C>T (p.Leu489Phe)
c.1351C>T (p.Leu451Phe)
c.1372C>T (p.Leu458Phe)
c.1505C>T (n.1505C>T)
c.1410C>T
c.1092C>T
c.634C>T (p.Leu212Phe)
c.*1200C>T (n.*1200C>T)
c.322C>T (p.Leu108Phe)
c.157C>T (p.Leu53Phe)
c.558C>T
c.1456C>T (p.Leu486Phe)
c.1447C>T (p.Leu483Phe)
c.1474C>T (p.Leu492Phe)
c.1471C>T (p.Leu491Phe)
c.1453C>T (p.Leu485Phe)
c.1396C>T (p.Leu466Phe)
c.1444C>T (p.Leu482Phe)
c.1450C>T (p.Leu484Phe)
c.1366C>T (p.Leu456Phe)
c.1294C>T (p.Leu432Phe)
c.589C>T (p.Leu197Phe)
9g.137757976T>ACA375766371EHMT1c.1466T>A (p.Leu489His)
c.1352T>A (p.Leu451His)
c.1373T>A (p.Leu458His)
c.1506T>A (n.1506T>A)
c.1411T>A
c.1093T>A
c.635T>A (p.Leu212His)
c.*1201T>A (n.*1201T>A)
c.323T>A (p.Leu108His)
c.158T>A (p.Leu53His)
c.559T>A
c.1457T>A (p.Leu486His)
c.1448T>A (p.Leu483His)
c.1475T>A (p.Leu492His)
c.1472T>A (p.Leu491His)
c.1454T>A (p.Leu485His)
c.1397T>A (p.Leu466His)
c.1445T>A (p.Leu482His)
c.1451T>A (p.Leu484His)
c.1367T>A (p.Leu456His)
c.1295T>A (p.Leu432His)
c.590T>A (p.Leu197His)
9g.137757976T>CCA375766370EHMT1c.1466T>C (p.Leu489Pro)
c.1352T>C (p.Leu451Pro)
c.1373T>C (p.Leu458Pro)
c.1506T>C (n.1506T>C)
c.1411T>C
c.1093T>C
c.635T>C (p.Leu212Pro)
c.*1201T>C (n.*1201T>C)
c.323T>C (p.Leu108Pro)
c.158T>C (p.Leu53Pro)
c.559T>C
c.1457T>C (p.Leu486Pro)
c.1448T>C (p.Leu483Pro)
c.1475T>C (p.Leu492Pro)
c.1472T>C (p.Leu491Pro)
c.1454T>C (p.Leu485Pro)
c.1397T>C (p.Leu466Pro)
c.1445T>C (p.Leu482Pro)
c.1451T>C (p.Leu484Pro)
c.1367T>C (p.Leu456Pro)
c.1295T>C (p.Leu432Pro)
c.590T>C (p.Leu197Pro)
9g.137757976T>GCA375766369EHMT1c.1466T>G (p.Leu489Arg)
c.1352T>G (p.Leu451Arg)
c.1373T>G (p.Leu458Arg)
c.1506T>G (n.1506T>G)
c.1411T>G
c.1093T>G
c.635T>G (p.Leu212Arg)
c.*1201T>G (n.*1201T>G)
c.323T>G (p.Leu108Arg)
c.158T>G (p.Leu53Arg)
c.559T>G
c.1457T>G (p.Leu486Arg)
c.1448T>G (p.Leu483Arg)
c.1475T>G (p.Leu492Arg)
c.1472T>G (p.Leu491Arg)
c.1454T>G (p.Leu485Arg)
c.1397T>G (p.Leu466Arg)
c.1445T>G (p.Leu482Arg)
c.1451T>G (p.Leu484Arg)
c.1367T>G (p.Leu456Arg)
c.1295T>G (p.Leu432Arg)
c.590T>G (p.Leu197Arg)
9g.137757977C>ACA467873810EHMT1c.1467C>A (p.Leu489=)
c.1353C>A (p.Leu451=)
c.1374C>A (p.Leu458=)
c.1507C>A (n.1507C>A)
c.1412C>A
c.1094C>A
c.636C>A (p.Leu212=)
c.*1202C>A (n.*1202C>A)
c.324C>A (p.Leu108=)
c.159C>A (p.Leu53=)
c.560C>A
c.1458C>A (p.Leu486=)
c.1449C>A (p.Leu483=)
c.1476C>A (p.Leu492=)
c.1473C>A (p.Leu491=)
c.1455C>A (p.Leu485=)
c.1398C>A (p.Leu466=)
c.1446C>A (p.Leu482=)
c.1452C>A (p.Leu484=)
c.1368C>A (p.Leu456=)
c.1296C>A (p.Leu432=)
c.591C>A (p.Leu197=)
9g.137757977C>GCA467873811EHMT1c.1467C>G (p.Leu489=)
c.1353C>G (p.Leu451=)
c.1374C>G (p.Leu458=)
c.1507C>G (n.1507C>G)
c.1412C>G
c.1094C>G
c.636C>G (p.Leu212=)
c.*1202C>G (n.*1202C>G)
c.324C>G (p.Leu108=)
c.159C>G (p.Leu53=)
c.560C>G
c.1458C>G (p.Leu486=)
c.1449C>G (p.Leu483=)
c.1476C>G (p.Leu492=)
c.1473C>G (p.Leu491=)
c.1455C>G (p.Leu485=)
c.1398C>G (p.Leu466=)
c.1446C>G (p.Leu482=)
c.1452C>G (p.Leu484=)
c.1368C>G (p.Leu456=)
c.1296C>G (p.Leu432=)
c.591C>G (p.Leu197=)
9g.137757977C>TCA467873812EHMT1c.1467C>T (p.Leu489=)
c.1353C>T (p.Leu451=)
c.1374C>T (p.Leu458=)
c.1507C>T (n.1507C>T)
c.1412C>T
c.1094C>T
c.636C>T (p.Leu212=)
c.*1202C>T (n.*1202C>T)
c.324C>T (p.Leu108=)
c.159C>T (p.Leu53=)
c.560C>T
c.1458C>T (p.Leu486=)
c.1449C>T (p.Leu483=)
c.1476C>T (p.Leu492=)
c.1473C>T (p.Leu491=)
c.1455C>T (p.Leu485=)
c.1398C>T (p.Leu466=)
c.1446C>T (p.Leu482=)
c.1452C>T (p.Leu484=)
c.1368C>T (p.Leu456=)
c.1296C>T (p.Leu432=)
c.591C>T (p.Leu197=)
9g.137757978C>ACA467873813EHMT1c.1468C>A (p.Arg490=)
c.1354C>A (p.Arg452=)
c.1375C>A (p.Arg459=)
c.1508C>A (n.1508C>A)
c.1413C>A
c.1095C>A
c.637C>A (p.Arg213=)
c.*1203C>A (n.*1203C>A)
c.325C>A (p.Arg109=)
c.160C>A (p.Arg54=)
c.561C>A
c.1459C>A (p.Arg487=)
c.1450C>A (p.Arg484=)
c.1477C>A (p.Arg493=)
c.1474C>A (p.Arg492=)
c.1456C>A (p.Arg486=)
c.1399C>A (p.Arg467=)
c.1447C>A (p.Arg483=)
c.1453C>A (p.Arg485=)
c.1369C>A (p.Arg457=)
c.1297C>A (p.Arg433=)
c.592C>A (p.Arg198=)
 ClinVar
9g.137757978C=CA1884657144EHMT1c.1468C= (p.Arg490=)
c.1354C= (p.Arg452=)
c.1375C= (p.Arg459=)
c.1508C= (n.1508C=)
c.1413C=
c.1095C=
c.637C= (p.Arg213=)
c.*1203C= (n.*1203C=)
c.325C= (p.Arg109=)
c.160C= (p.Arg54=)
c.561C=
c.1459C= (p.Arg487=)
c.1450C= (p.Arg484=)
c.1477C= (p.Arg493=)
c.1474C= (p.Arg492=)
c.1456C= (p.Arg486=)
c.1399C= (p.Arg467=)
c.1447C= (p.Arg483=)
c.1453C= (p.Arg485=)
c.1369C= (p.Arg457=)
c.1297C= (p.Arg433=)
c.592C= (p.Arg198=)
9g.137757978C>GCA375766372EHMT1c.1468C>G (p.Arg490Gly)
c.1354C>G (p.Arg452Gly)
c.1375C>G (p.Arg459Gly)
c.1508C>G (n.1508C>G)
c.1413C>G
c.1095C>G
c.637C>G (p.Arg213Gly)
c.*1203C>G (n.*1203C>G)
c.325C>G (p.Arg109Gly)
c.160C>G (p.Arg54Gly)
c.561C>G
c.1459C>G (p.Arg487Gly)
c.1450C>G (p.Arg484Gly)
c.1477C>G (p.Arg493Gly)
c.1474C>G (p.Arg492Gly)
c.1456C>G (p.Arg486Gly)
c.1399C>G (p.Arg467Gly)
c.1447C>G (p.Arg483Gly)
c.1453C>G (p.Arg485Gly)
c.1369C>G (p.Arg457Gly)
c.1297C>G (p.Arg433Gly)
c.592C>G (p.Arg198Gly)
 ClinVar dbSNP
9g.137757978C>TCA375766374EHMT1c.1468C>T (p.Arg490Ter)
c.1354C>T (p.Arg452Ter)
c.1375C>T (p.Arg459Ter)
c.1508C>T (n.1508C>T)
c.1413C>T
c.1095C>T
c.637C>T (p.Arg213Ter)
c.*1203C>T (n.*1203C>T)
c.325C>T (p.Arg109Ter)
c.160C>T (p.Arg54Ter)
c.561C>T
c.1459C>T (p.Arg487Ter)
c.1450C>T (p.Arg484Ter)
c.1477C>T (p.Arg493Ter)
c.1474C>T (p.Arg492Ter)
c.1456C>T (p.Arg486Ter)
c.1399C>T (p.Arg467Ter)
c.1447C>T (p.Arg483Ter)
c.1453C>T (p.Arg485Ter)
c.1369C>T (p.Arg457Ter)
c.1297C>T (p.Arg433Ter)
c.592C>T (p.Arg198Ter)
 ClinVar dbSNP
9g.137757979G>ACA5374629EHMT1c.1469G>A (p.Arg490Gln)
c.1355G>A (p.Arg452Gln)
c.1376G>A (p.Arg459Gln)
c.1509G>A (n.1509G>A)
c.1414G>A
c.1096G>A
c.638G>A (p.Arg213Gln)
c.*1204G>A (n.*1204G>A)
c.326G>A (p.Arg109Gln)
c.161G>A (p.Arg54Gln)
c.562G>A
c.1460G>A (p.Arg487Gln)
c.1451G>A (p.Arg484Gln)
c.1478G>A (p.Arg493Gln)
c.1475G>A (p.Arg492Gln)
c.1457G>A (p.Arg486Gln)
c.1400G>A (p.Arg467Gln)
c.1448G>A (p.Arg483Gln)
c.1454G>A (p.Arg485Gln)
c.1370G>A (p.Arg457Gln)
c.1298G>A (p.Arg433Gln)
c.593G>A (p.Arg198Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137757979G>CCA375766387EHMT1c.1469G>C (p.Arg490Pro)
c.1355G>C (p.Arg452Pro)
c.1376G>C (p.Arg459Pro)
c.1509G>C (n.1509G>C)
c.1414G>C
c.1096G>C
c.638G>C (p.Arg213Pro)
c.*1204G>C (n.*1204G>C)
c.326G>C (p.Arg109Pro)
c.161G>C (p.Arg54Pro)
c.562G>C
c.1460G>C (p.Arg487Pro)
c.1451G>C (p.Arg484Pro)
c.1478G>C (p.Arg493Pro)
c.1475G>C (p.Arg492Pro)
c.1457G>C (p.Arg486Pro)
c.1400G>C (p.Arg467Pro)
c.1448G>C (p.Arg483Pro)
c.1454G>C (p.Arg485Pro)
c.1370G>C (p.Arg457Pro)
c.1298G>C (p.Arg433Pro)
c.593G>C (p.Arg198Pro)
9g.137757979G=CA1884657145EHMT1c.1469G= (p.Arg490=)
c.1355G= (p.Arg452=)
c.1376G= (p.Arg459=)
c.1509G= (n.1509G=)
c.1414G=
c.1096G=
c.638G= (p.Arg213=)
c.*1204G= (n.*1204G=)
c.326G= (p.Arg109=)
c.161G= (p.Arg54=)
c.562G=
c.1460G= (p.Arg487=)
c.1451G= (p.Arg484=)
c.1478G= (p.Arg493=)
c.1475G= (p.Arg492=)
c.1457G= (p.Arg486=)
c.1400G= (p.Arg467=)
c.1448G= (p.Arg483=)
c.1454G= (p.Arg485=)
c.1370G= (p.Arg457=)
c.1298G= (p.Arg433=)
c.593G= (p.Arg198=)
9g.137757979G>TCA375766385EHMT1c.1469G>T (p.Arg490Leu)
c.1355G>T (p.Arg452Leu)
c.1376G>T (p.Arg459Leu)
c.1509G>T (n.1509G>T)
c.1414G>T
c.1096G>T
c.638G>T (p.Arg213Leu)
c.*1204G>T (n.*1204G>T)
c.326G>T (p.Arg109Leu)
c.161G>T (p.Arg54Leu)
c.562G>T
c.1460G>T (p.Arg487Leu)
c.1451G>T (p.Arg484Leu)
c.1478G>T (p.Arg493Leu)
c.1475G>T (p.Arg492Leu)
c.1457G>T (p.Arg486Leu)
c.1400G>T (p.Arg467Leu)
c.1448G>T (p.Arg483Leu)
c.1454G>T (p.Arg485Leu)
c.1370G>T (p.Arg457Leu)
c.1298G>T (p.Arg433Leu)
c.593G>T (p.Arg198Leu)
 gnomAD v4
9g.137757980A>CCA467873814EHMT1c.1470A>C (p.Arg490=)
c.1356A>C (p.Arg452=)
c.1377A>C (p.Arg459=)
c.1510A>C (n.1510A>C)
c.1415A>C
c.1097A>C
c.639A>C (p.Arg213=)
c.*1205A>C (n.*1205A>C)
c.327A>C (p.Arg109=)
c.162A>C (p.Arg54=)
c.563A>C
c.1461A>C (p.Arg487=)
c.1452A>C (p.Arg484=)
c.1479A>C (p.Arg493=)
c.1476A>C (p.Arg492=)
c.1458A>C (p.Arg486=)
c.1401A>C (p.Arg467=)
c.1449A>C (p.Arg483=)
c.1455A>C (p.Arg485=)
c.1371A>C (p.Arg457=)
c.1299A>C (p.Arg433=)
c.594A>C (p.Arg198=)
9g.137757980A>GCA467873815EHMT1c.1470A>G (p.Arg490=)
c.1356A>G (p.Arg452=)
c.1377A>G (p.Arg459=)
c.1510A>G (n.1510A>G)
c.1415A>G
c.1097A>G
c.639A>G (p.Arg213=)
c.*1205A>G (n.*1205A>G)
c.327A>G (p.Arg109=)
c.162A>G (p.Arg54=)
c.563A>G
c.1461A>G (p.Arg487=)
c.1452A>G (p.Arg484=)
c.1479A>G (p.Arg493=)
c.1476A>G (p.Arg492=)
c.1458A>G (p.Arg486=)
c.1401A>G (p.Arg467=)
c.1449A>G (p.Arg483=)
c.1455A>G (p.Arg485=)
c.1371A>G (p.Arg457=)
c.1299A>G (p.Arg433=)
c.594A>G (p.Arg198=)
9g.137757980A>TCA467873816EHMT1c.1470A>T (p.Arg490=)
c.1356A>T (p.Arg452=)
c.1377A>T (p.Arg459=)
c.1510A>T (n.1510A>T)
c.1415A>T
c.1097A>T
c.639A>T (p.Arg213=)
c.*1205A>T (n.*1205A>T)
c.327A>T (p.Arg109=)
c.162A>T (p.Arg54=)
c.563A>T
c.1461A>T (p.Arg487=)
c.1452A>T (p.Arg484=)
c.1479A>T (p.Arg493=)
c.1476A>T (p.Arg492=)
c.1458A>T (p.Arg486=)
c.1401A>T (p.Arg467=)
c.1449A>T (p.Arg483=)
c.1455A>T (p.Arg485=)
c.1371A>T (p.Arg457=)
c.1299A>T (p.Arg433=)
c.594A>T (p.Arg198=)
9g.137757981G>ACA5374630EHMT1c.1471G>A (p.Val491Ile)
c.1357G>A (p.Val453Ile)
c.1378G>A (p.Val460Ile)
c.1511G>A (n.1511G>A)
c.1416G>A
c.1098G>A
c.640G>A (p.Val214Ile)
c.*1206G>A (n.*1206G>A)
c.328G>A (p.Val110Ile)
c.163G>A (p.Val55Ile)
c.564G>A
c.1462G>A (p.Val488Ile)
c.1453G>A (p.Val485Ile)
c.1480G>A (p.Val494Ile)
c.1477G>A (p.Val493Ile)
c.1459G>A (p.Val487Ile)
c.1402G>A (p.Val468Ile)
c.1450G>A (p.Val484Ile)
c.1456G>A (p.Val486Ile)
c.1372G>A (p.Val458Ile)
c.1300G>A (p.Val434Ile)
c.595G>A (p.Val199Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.137757981G>CCA375766393EHMT1c.1471G>C (p.Val491Leu)
c.1357G>C (p.Val453Leu)
c.1378G>C (p.Val460Leu)
c.1511G>C (n.1511G>C)
c.1416G>C
c.1098G>C
c.640G>C (p.Val214Leu)
c.*1206G>C (n.*1206G>C)
c.328G>C (p.Val110Leu)
c.163G>C (p.Val55Leu)
c.564G>C
c.1462G>C (p.Val488Leu)
c.1453G>C (p.Val485Leu)
c.1480G>C (p.Val494Leu)
c.1477G>C (p.Val493Leu)
c.1459G>C (p.Val487Leu)
c.1402G>C (p.Val468Leu)
c.1450G>C (p.Val484Leu)
c.1456G>C (p.Val486Leu)
c.1372G>C (p.Val458Leu)
c.1300G>C (p.Val434Leu)
c.595G>C (p.Val199Leu)
9g.137757981G=CA1884657146EHMT1c.1471G= (p.Val491=)
c.1357G= (p.Val453=)
c.1378G= (p.Val460=)
c.1511G= (n.1511G=)
c.1416G=
c.1098G=
c.640G= (p.Val214=)
c.*1206G= (n.*1206G=)
c.328G= (p.Val110=)
c.163G= (p.Val55=)
c.564G=
c.1462G= (p.Val488=)
c.1453G= (p.Val485=)
c.1480G= (p.Val494=)
c.1477G= (p.Val493=)
c.1459G= (p.Val487=)
c.1402G= (p.Val468=)
c.1450G= (p.Val484=)
c.1456G= (p.Val486=)
c.1372G= (p.Val458=)
c.1300G= (p.Val434=)
c.595G= (p.Val199=)
9g.137757981G>TCA375766403EHMT1c.1471G>T (p.Val491Phe)
c.1357G>T (p.Val453Phe)
c.1378G>T (p.Val460Phe)
c.1511G>T (n.1511G>T)
c.1416G>T
c.1098G>T
c.640G>T (p.Val214Phe)
c.*1206G>T (n.*1206G>T)
c.328G>T (p.Val110Phe)
c.163G>T (p.Val55Phe)
c.564G>T
c.1462G>T (p.Val488Phe)
c.1453G>T (p.Val485Phe)
c.1480G>T (p.Val494Phe)
c.1477G>T (p.Val493Phe)
c.1459G>T (p.Val487Phe)
c.1402G>T (p.Val468Phe)
c.1450G>T (p.Val484Phe)
c.1456G>T (p.Val486Phe)
c.1372G>T (p.Val458Phe)
c.1300G>T (p.Val434Phe)
c.595G>T (p.Val199Phe)
9g.137757982T>ACA375766405EHMT1c.1472T>A (p.Val491Asp)
c.1358T>A (p.Val453Asp)
c.1379T>A (p.Val460Asp)
c.1512T>A (n.1512T>A)
c.1417T>A
c.1099T>A
c.641T>A (p.Val214Asp)
c.*1207T>A (n.*1207T>A)
c.329T>A (p.Val110Asp)
c.164T>A (p.Val55Asp)
c.565T>A
c.1463T>A (p.Val488Asp)
c.1454T>A (p.Val485Asp)
c.1481T>A (p.Val494Asp)
c.1478T>A (p.Val493Asp)
c.1460T>A (p.Val487Asp)
c.1403T>A (p.Val468Asp)
c.1451T>A (p.Val484Asp)
c.1457T>A (p.Val486Asp)
c.1373T>A (p.Val458Asp)
c.1301T>A (p.Val434Asp)
c.596T>A (p.Val199Asp)
9g.137757982T>CCA375766412EHMT1c.1472T>C (p.Val491Ala)
c.1358T>C (p.Val453Ala)
c.1379T>C (p.Val460Ala)
c.1512T>C (n.1512T>C)
c.1417T>C
c.1099T>C
c.641T>C (p.Val214Ala)
c.*1207T>C (n.*1207T>C)
c.329T>C (p.Val110Ala)
c.164T>C (p.Val55Ala)
c.565T>C
c.1463T>C (p.Val488Ala)
c.1454T>C (p.Val485Ala)
c.1481T>C (p.Val494Ala)
c.1478T>C (p.Val493Ala)
c.1460T>C (p.Val487Ala)
c.1403T>C (p.Val468Ala)
c.1451T>C (p.Val484Ala)
c.1457T>C (p.Val486Ala)
c.1373T>C (p.Val458Ala)
c.1301T>C (p.Val434Ala)
c.596T>C (p.Val199Ala)
9g.137757982T>GCA375766420EHMT1c.1472T>G (p.Val491Gly)
c.1358T>G (p.Val453Gly)
c.1379T>G (p.Val460Gly)
c.1512T>G (n.1512T>G)
c.1417T>G
c.1099T>G
c.641T>G (p.Val214Gly)
c.*1207T>G (n.*1207T>G)
c.329T>G (p.Val110Gly)
c.164T>G (p.Val55Gly)
c.565T>G
c.1463T>G (p.Val488Gly)
c.1454T>G (p.Val485Gly)
c.1481T>G (p.Val494Gly)
c.1478T>G (p.Val493Gly)
c.1460T>G (p.Val487Gly)
c.1403T>G (p.Val468Gly)
c.1451T>G (p.Val484Gly)
c.1457T>G (p.Val486Gly)
c.1373T>G (p.Val458Gly)
c.1301T>G (p.Val434Gly)
c.596T>G (p.Val199Gly)
9g.137757983C>ACA467873817EHMT1c.1473C>A (p.Val491=)
c.1359C>A (p.Val453=)
c.1380C>A (p.Val460=)
c.1513C>A (n.1513C>A)
c.1418C>A
c.1100C>A
c.642C>A (p.Val214=)
c.*1208C>A (n.*1208C>A)
c.330C>A (p.Val110=)
c.165C>A (p.Val55=)
c.566C>A
c.1464C>A (p.Val488=)
c.1455C>A (p.Val485=)
c.1482C>A (p.Val494=)
c.1479C>A (p.Val493=)
c.1461C>A (p.Val487=)
c.1404C>A (p.Val468=)
c.1452C>A (p.Val484=)
c.1458C>A (p.Val486=)
c.1374C>A (p.Val458=)
c.1302C>A (p.Val434=)
c.597C>A (p.Val199=)
 ClinVar dbSNP
9g.137757983C=CA1884657147EHMT1c.1473C= (p.Val491=)
c.1359C= (p.Val453=)
c.1380C= (p.Val460=)
c.1513C= (n.1513C=)
c.1418C=
c.1100C=
c.642C= (p.Val214=)
c.*1208C= (n.*1208C=)
c.330C= (p.Val110=)
c.165C= (p.Val55=)
c.566C=
c.1464C= (p.Val488=)
c.1455C= (p.Val485=)
c.1482C= (p.Val494=)
c.1479C= (p.Val493=)
c.1461C= (p.Val487=)
c.1404C= (p.Val468=)
c.1452C= (p.Val484=)
c.1458C= (p.Val486=)
c.1374C= (p.Val458=)
c.1302C= (p.Val434=)
c.597C= (p.Val199=)
9g.137757983C>GCA467873818EHMT1c.1473C>G (p.Val491=)
c.1359C>G (p.Val453=)
c.1380C>G (p.Val460=)
c.1513C>G (n.1513C>G)
c.1418C>G
c.1100C>G
c.642C>G (p.Val214=)
c.*1208C>G (n.*1208C>G)
c.330C>G (p.Val110=)
c.165C>G (p.Val55=)
c.566C>G
c.1464C>G (p.Val488=)
c.1455C>G (p.Val485=)
c.1482C>G (p.Val494=)
c.1479C>G (p.Val493=)
c.1461C>G (p.Val487=)
c.1404C>G (p.Val468=)
c.1452C>G (p.Val484=)
c.1458C>G (p.Val486=)
c.1374C>G (p.Val458=)
c.1302C>G (p.Val434=)
c.597C>G (p.Val199=)
9g.137757983C>TCA467873819EHMT1c.1473C>T (p.Val491=)
c.1359C>T (p.Val453=)
c.1380C>T (p.Val460=)
c.1513C>T (n.1513C>T)
c.1418C>T
c.1100C>T
c.642C>T (p.Val214=)
c.*1208C>T (n.*1208C>T)
c.330C>T (p.Val110=)
c.165C>T (p.Val55=)
c.566C>T
c.1464C>T (p.Val488=)
c.1455C>T (p.Val485=)
c.1482C>T (p.Val494=)
c.1479C>T (p.Val493=)
c.1461C>T (p.Val487=)
c.1404C>T (p.Val468=)
c.1452C>T (p.Val484=)
c.1458C>T (p.Val486=)
c.1374C>T (p.Val458=)
c.1302C>T (p.Val434=)
c.597C>T (p.Val199=)
9g.137757984A>CCA375766423EHMT1c.1474A>C (p.Lys492Gln)
c.1360A>C (p.Lys454Gln)
c.1381A>C (p.Lys461Gln)
c.1514A>C (n.1514A>C)
c.1419A>C
c.1101A>C
c.643A>C (p.Lys215Gln)
c.*1209A>C (n.*1209A>C)
c.331A>C (p.Lys111Gln)
c.166A>C (p.Lys56Gln)
c.567A>C
c.1465A>C (p.Lys489Gln)
c.1456A>C (p.Lys486Gln)
c.1483A>C (p.Lys495Gln)
c.1480A>C (p.Lys494Gln)
c.1462A>C (p.Lys488Gln)
c.1405A>C (p.Lys469Gln)
c.1453A>C (p.Lys485Gln)
c.1459A>C (p.Lys487Gln)
c.1375A>C (p.Lys459Gln)
c.1303A>C (p.Lys435Gln)
c.598A>C (p.Lys200Gln)
9g.137757984A>GCA375766424EHMT1c.1474A>G (p.Lys492Glu)
c.1360A>G (p.Lys454Glu)
c.1381A>G (p.Lys461Glu)
c.1514A>G (n.1514A>G)
c.1419A>G
c.1101A>G
c.643A>G (p.Lys215Glu)
c.*1209A>G (n.*1209A>G)
c.331A>G (p.Lys111Glu)
c.166A>G (p.Lys56Glu)
c.567A>G
c.1465A>G (p.Lys489Glu)
c.1456A>G (p.Lys486Glu)
c.1483A>G (p.Lys495Glu)
c.1480A>G (p.Lys494Glu)
c.1462A>G (p.Lys488Glu)
c.1405A>G (p.Lys469Glu)
c.1453A>G (p.Lys485Glu)
c.1459A>G (p.Lys487Glu)
c.1375A>G (p.Lys459Glu)
c.1303A>G (p.Lys435Glu)
c.598A>G (p.Lys200Glu)
 ClinVar dbSNP
9g.137757984A>TCA375766425EHMT1c.1474A>T (p.Lys492Ter)
c.1360A>T (p.Lys454Ter)
c.1381A>T (p.Lys461Ter)
c.1514A>T (n.1514A>T)
c.1419A>T
c.1101A>T
c.643A>T (p.Lys215Ter)
c.*1209A>T (n.*1209A>T)
c.331A>T (p.Lys111Ter)
c.166A>T (p.Lys56Ter)
c.567A>T
c.1465A>T (p.Lys489Ter)
c.1456A>T (p.Lys486Ter)
c.1483A>T (p.Lys495Ter)
c.1480A>T (p.Lys494Ter)
c.1462A>T (p.Lys488Ter)
c.1405A>T (p.Lys469Ter)
c.1453A>T (p.Lys485Ter)
c.1459A>T (p.Lys487Ter)
c.1375A>T (p.Lys459Ter)
c.1303A>T (p.Lys435Ter)
c.598A>T (p.Lys200Ter)
9g.137757985A>CCA375766426EHMT1c.1475A>C (p.Lys492Thr)
c.1361A>C (p.Lys454Thr)
c.1382A>C (p.Lys461Thr)
c.1515A>C (n.1515A>C)
c.1420A>C
c.1102A>C
c.644A>C (p.Lys215Thr)
c.*1210A>C (n.*1210A>C)
c.332A>C (p.Lys111Thr)
c.167A>C (p.Lys56Thr)
c.568A>C
c.1466A>C (p.Lys489Thr)
c.1457A>C (p.Lys486Thr)
c.1484A>C (p.Lys495Thr)
c.1481A>C (p.Lys494Thr)
c.1463A>C (p.Lys488Thr)
c.1406A>C (p.Lys469Thr)
c.1454A>C (p.Lys485Thr)
c.1460A>C (p.Lys487Thr)
c.1376A>C (p.Lys459Thr)
c.1304A>C (p.Lys435Thr)
c.599A>C (p.Lys200Thr)
9g.137757985A>GCA375766429EHMT1c.1475A>G (p.Lys492Arg)
c.1361A>G (p.Lys454Arg)
c.1382A>G (p.Lys461Arg)
c.1515A>G (n.1515A>G)
c.1420A>G
c.1102A>G
c.644A>G (p.Lys215Arg)
c.*1210A>G (n.*1210A>G)
c.332A>G (p.Lys111Arg)
c.167A>G (p.Lys56Arg)
c.568A>G
c.1466A>G (p.Lys489Arg)
c.1457A>G (p.Lys486Arg)
c.1484A>G (p.Lys495Arg)
c.1481A>G (p.Lys494Arg)
c.1463A>G (p.Lys488Arg)
c.1406A>G (p.Lys469Arg)
c.1454A>G (p.Lys485Arg)
c.1460A>G (p.Lys487Arg)
c.1376A>G (p.Lys459Arg)
c.1304A>G (p.Lys435Arg)
c.599A>G (p.Lys200Arg)
9g.137757985A>TCA375766430EHMT1c.1475A>T (p.Lys492Ile)
c.1361A>T (p.Lys454Ile)
c.1382A>T (p.Lys461Ile)
c.1515A>T (n.1515A>T)
c.1420A>T
c.1102A>T
c.644A>T (p.Lys215Ile)
c.*1210A>T (n.*1210A>T)
c.332A>T (p.Lys111Ile)
c.167A>T (p.Lys56Ile)
c.568A>T
c.1466A>T (p.Lys489Ile)
c.1457A>T (p.Lys486Ile)
c.1484A>T (p.Lys495Ile)
c.1481A>T (p.Lys494Ile)
c.1463A>T (p.Lys488Ile)
c.1406A>T (p.Lys469Ile)
c.1454A>T (p.Lys485Ile)
c.1460A>T (p.Lys487Ile)
c.1376A>T (p.Lys459Ile)
c.1304A>T (p.Lys435Ile)
c.599A>T (p.Lys200Ile)
9g.137757986A>CCA375766438EHMT1c.1476A>C (p.Lys492Asn)
c.1362A>C (p.Lys454Asn)
c.1383A>C (p.Lys461Asn)
c.1516A>C (n.1516A>C)
c.1421A>C
c.1103A>C
c.645A>C (p.Lys215Asn)
c.*1211A>C (n.*1211A>C)
c.333A>C (p.Lys111Asn)
c.168A>C (p.Lys56Asn)
c.569A>C
c.1467A>C (p.Lys489Asn)
c.1458A>C (p.Lys486Asn)
c.1485A>C (p.Lys495Asn)
c.1482A>C (p.Lys494Asn)
c.1464A>C (p.Lys488Asn)
c.1407A>C (p.Lys469Asn)
c.1455A>C (p.Lys485Asn)
c.1461A>C (p.Lys487Asn)
c.1377A>C (p.Lys459Asn)
c.1305A>C (p.Lys435Asn)
c.600A>C (p.Lys200Asn)
9g.137757986A>GCA467873820EHMT1c.1476A>G (p.Lys492=)
c.1362A>G (p.Lys454=)
c.1383A>G (p.Lys461=)
c.1516A>G (n.1516A>G)
c.1421A>G
c.1103A>G
c.645A>G (p.Lys215=)
c.*1211A>G (n.*1211A>G)
c.333A>G (p.Lys111=)
c.168A>G (p.Lys56=)
c.569A>G
c.1467A>G (p.Lys489=)
c.1458A>G (p.Lys486=)
c.1485A>G (p.Lys495=)
c.1482A>G (p.Lys494=)
c.1464A>G (p.Lys488=)
c.1407A>G (p.Lys469=)
c.1455A>G (p.Lys485=)
c.1461A>G (p.Lys487=)
c.1377A>G (p.Lys459=)
c.1305A>G (p.Lys435=)
c.600A>G (p.Lys200=)
9g.137757986A>TCA375766435EHMT1c.1476A>T (p.Lys492Asn)
c.1362A>T (p.Lys454Asn)
c.1383A>T (p.Lys461Asn)
c.1516A>T (n.1516A>T)
c.1421A>T
c.1103A>T
c.645A>T (p.Lys215Asn)
c.*1211A>T (n.*1211A>T)
c.333A>T (p.Lys111Asn)
c.168A>T (p.Lys56Asn)
c.569A>T
c.1467A>T (p.Lys489Asn)
c.1458A>T (p.Lys486Asn)
c.1485A>T (p.Lys495Asn)
c.1482A>T (p.Lys494Asn)
c.1464A>T (p.Lys488Asn)
c.1407A>T (p.Lys469Asn)
c.1455A>T (p.Lys485Asn)
c.1461A>T (p.Lys487Asn)
c.1377A>T (p.Lys459Asn)
c.1305A>T (p.Lys435Asn)
c.600A>T (p.Lys200Asn)
9g.137757987G>ACA375766440EHMT1c.1477G>A (p.Gly493Arg)
c.1363G>A (p.Gly455Arg)
c.1384G>A (p.Gly462Arg)
c.1517G>A (n.1517G>A)
c.1422G>A
c.1104G>A
c.646G>A (p.Gly216Arg)
c.*1212G>A (n.*1212G>A)
c.334G>A (p.Gly112Arg)
c.169G>A (p.Gly57Arg)
c.570G>A
c.1468G>A (p.Gly490Arg)
c.1459G>A (p.Gly487Arg)
c.1486G>A (p.Gly496Arg)
c.1483G>A (p.Gly495Arg)
c.1465G>A (p.Gly489Arg)
c.1408G>A (p.Gly470Arg)
c.1456G>A (p.Gly486Arg)
c.1462G>A (p.Gly488Arg)
c.1378G>A (p.Gly460Arg)
c.1306G>A (p.Gly436Arg)
c.601G>A (p.Gly201Arg)
 gnomAD v4
9g.137757987G>CCA375766444EHMT1c.1477G>C (p.Gly493Arg)
c.1363G>C (p.Gly455Arg)
c.1384G>C (p.Gly462Arg)
c.1517G>C (n.1517G>C)
c.1422G>C
c.1104G>C
c.646G>C (p.Gly216Arg)
c.*1212G>C (n.*1212G>C)
c.334G>C (p.Gly112Arg)
c.169G>C (p.Gly57Arg)
c.570G>C
c.1468G>C (p.Gly490Arg)
c.1459G>C (p.Gly487Arg)
c.1486G>C (p.Gly496Arg)
c.1483G>C (p.Gly495Arg)
c.1465G>C (p.Gly489Arg)
c.1408G>C (p.Gly470Arg)
c.1456G>C (p.Gly486Arg)
c.1462G>C (p.Gly488Arg)
c.1378G>C (p.Gly460Arg)
c.1306G>C (p.Gly436Arg)
c.601G>C (p.Gly201Arg)
9g.137757987G>TCA375766446EHMT1c.1477G>T (p.Gly493Ter)
c.1363G>T (p.Gly455Ter)
c.1384G>T (p.Gly462Ter)
c.1517G>T (n.1517G>T)
c.1422G>T
c.1104G>T
c.646G>T (p.Gly216Ter)
c.*1212G>T (n.*1212G>T)
c.334G>T (p.Gly112Ter)
c.169G>T (p.Gly57Ter)
c.570G>T
c.1468G>T (p.Gly490Ter)
c.1459G>T (p.Gly487Ter)
c.1486G>T (p.Gly496Ter)
c.1483G>T (p.Gly495Ter)
c.1465G>T (p.Gly489Ter)
c.1408G>T (p.Gly470Ter)
c.1456G>T (p.Gly486Ter)
c.1462G>T (p.Gly488Ter)
c.1378G>T (p.Gly460Ter)
c.1306G>T (p.Gly436Ter)
c.601G>T (p.Gly201Ter)
9g.137757988G>ACA375766452EHMT1c.1478G>A (p.Gly493Glu)
c.1364G>A (p.Gly455Glu)
c.1385G>A (p.Gly462Glu)
c.1518G>A (n.1518G>A)
c.1423G>A
c.1105G>A
c.647G>A (p.Gly216Glu)
c.*1213G>A (n.*1213G>A)
c.335G>A (p.Gly112Glu)
c.170G>A (p.Gly57Glu)
c.571G>A
c.1469G>A (p.Gly490Glu)
c.1460G>A (p.Gly487Glu)
c.1487G>A (p.Gly496Glu)
c.1484G>A (p.Gly495Glu)
c.1466G>A (p.Gly489Glu)
c.1409G>A (p.Gly470Glu)
c.1457G>A (p.Gly486Glu)
c.1463G>A (p.Gly488Glu)
c.1379G>A (p.Gly460Glu)
c.1307G>A (p.Gly436Glu)
c.602G>A (p.Gly201Glu)
9g.137757988G>CCA375766456EHMT1c.1478G>C (p.Gly493Ala)
c.1364G>C (p.Gly455Ala)
c.1385G>C (p.Gly462Ala)
c.1518G>C (n.1518G>C)
c.1423G>C
c.1105G>C
c.647G>C (p.Gly216Ala)
c.*1213G>C (n.*1213G>C)
c.335G>C (p.Gly112Ala)
c.170G>C (p.Gly57Ala)
c.571G>C
c.1469G>C (p.Gly490Ala)
c.1460G>C (p.Gly487Ala)
c.1487G>C (p.Gly496Ala)
c.1484G>C (p.Gly495Ala)
c.1466G>C (p.Gly489Ala)
c.1409G>C (p.Gly470Ala)
c.1457G>C (p.Gly486Ala)
c.1463G>C (p.Gly488Ala)
c.1379G>C (p.Gly460Ala)
c.1307G>C (p.Gly436Ala)
c.602G>C (p.Gly201Ala)
9g.137757988G>TCA375766457EHMT1c.1478G>T (p.Gly493Val)
c.1364G>T (p.Gly455Val)
c.1385G>T (p.Gly462Val)
c.1518G>T (n.1518G>T)
c.1423G>T
c.1105G>T
c.647G>T (p.Gly216Val)
c.*1213G>T (n.*1213G>T)
c.335G>T (p.Gly112Val)
c.170G>T (p.Gly57Val)
c.571G>T
c.1469G>T (p.Gly490Val)
c.1460G>T (p.Gly487Val)
c.1487G>T (p.Gly496Val)
c.1484G>T (p.Gly495Val)
c.1466G>T (p.Gly489Val)
c.1409G>T (p.Gly470Val)
c.1457G>T (p.Gly486Val)
c.1463G>T (p.Gly488Val)
c.1379G>T (p.Gly460Val)
c.1307G>T (p.Gly436Val)
c.602G>T (p.Gly201Val)
9g.137757989A>CCA467873821EHMT1c.1479A>C (p.Gly493=)
c.1365A>C (p.Gly455=)
c.1386A>C (p.Gly462=)
c.1519A>C (n.1519A>C)
c.1424A>C
c.1106A>C
c.648A>C (p.Gly216=)
c.*1214A>C (n.*1214A>C)
c.336A>C (p.Gly112=)
c.171A>C (p.Gly57=)
c.572A>C
c.1470A>C (p.Gly490=)
c.1461A>C (p.Gly487=)
c.1488A>C (p.Gly496=)
c.1485A>C (p.Gly495=)
c.1467A>C (p.Gly489=)
c.1410A>C (p.Gly470=)
c.1458A>C (p.Gly486=)
c.1464A>C (p.Gly488=)
c.1380A>C (p.Gly460=)
c.1308A>C (p.Gly436=)
c.603A>C (p.Gly201=)
9g.137757989A>GCA467873822EHMT1c.1479A>G (p.Gly493=)
c.1365A>G (p.Gly455=)
c.1386A>G (p.Gly462=)
c.1519A>G (n.1519A>G)
c.1424A>G
c.1106A>G
c.648A>G (p.Gly216=)
c.*1214A>G (n.*1214A>G)
c.336A>G (p.Gly112=)
c.171A>G (p.Gly57=)
c.572A>G
c.1470A>G (p.Gly490=)
c.1461A>G (p.Gly487=)
c.1488A>G (p.Gly496=)
c.1485A>G (p.Gly495=)
c.1467A>G (p.Gly489=)
c.1410A>G (p.Gly470=)
c.1458A>G (p.Gly486=)
c.1464A>G (p.Gly488=)
c.1380A>G (p.Gly460=)
c.1308A>G (p.Gly436=)
c.603A>G (p.Gly201=)
 gnomAD v4
9g.137757989A>TCA467873823EHMT1c.1479A>T (p.Gly493=)
c.1365A>T (p.Gly455=)
c.1386A>T (p.Gly462=)
c.1519A>T (n.1519A>T)
c.1424A>T
c.1106A>T
c.648A>T (p.Gly216=)
c.*1214A>T (n.*1214A>T)
c.336A>T (p.Gly112=)
c.171A>T (p.Gly57=)
c.572A>T
c.1470A>T (p.Gly490=)
c.1461A>T (p.Gly487=)
c.1488A>T (p.Gly496=)
c.1485A>T (p.Gly495=)
c.1467A>T (p.Gly489=)
c.1410A>T (p.Gly470=)
c.1458A>T (p.Gly486=)
c.1464A>T (p.Gly488=)
c.1380A>T (p.Gly460=)
c.1308A>T (p.Gly436=)
c.603A>T (p.Gly201=)
9g.137757990A>CCA375766462EHMT1c.1480A>C (p.Ile494Leu)
c.1366A>C (p.Ile456Leu)
c.1387A>C (p.Ile463Leu)
c.1520A>C (n.1520A>C)
c.1425A>C
c.1107A>C
c.649A>C (p.Ile217Leu)
c.*1215A>C (n.*1215A>C)
c.337A>C (p.Ile113Leu)
c.172A>C (p.Ile58Leu)
c.573A>C
c.1471A>C (p.Ile491Leu)
c.1462A>C (p.Ile488Leu)
c.1489A>C (p.Ile497Leu)
c.1486A>C (p.Ile496Leu)
c.1468A>C (p.Ile490Leu)
c.1411A>C (p.Ile471Leu)
c.1459A>C (p.Ile487Leu)
c.1465A>C (p.Ile489Leu)
c.1381A>C (p.Ile461Leu)
c.1309A>C (p.Ile437Leu)
c.604A>C (p.Ile202Leu)
9g.137757990A>GCA375766472EHMT1c.1480A>G (p.Ile494Val)
c.1366A>G (p.Ile456Val)
c.1387A>G (p.Ile463Val)
c.1520A>G (n.1520A>G)
c.1425A>G
c.1107A>G
c.649A>G (p.Ile217Val)
c.*1215A>G (n.*1215A>G)
c.337A>G (p.Ile113Val)
c.172A>G (p.Ile58Val)
c.573A>G
c.1471A>G (p.Ile491Val)
c.1462A>G (p.Ile488Val)
c.1489A>G (p.Ile497Val)
c.1486A>G (p.Ile496Val)
c.1468A>G (p.Ile490Val)
c.1411A>G (p.Ile471Val)
c.1459A>G (p.Ile487Val)
c.1465A>G (p.Ile489Val)
c.1381A>G (p.Ile461Val)
c.1309A>G (p.Ile437Val)
c.604A>G (p.Ile202Val)
9g.137757990A>TCA375766473EHMT1c.1480A>T (p.Ile494Phe)
c.1366A>T (p.Ile456Phe)
c.1387A>T (p.Ile463Phe)
c.1520A>T (n.1520A>T)
c.1425A>T
c.1107A>T
c.649A>T (p.Ile217Phe)
c.*1215A>T (n.*1215A>T)
c.337A>T (p.Ile113Phe)
c.172A>T (p.Ile58Phe)
c.573A>T
c.1471A>T (p.Ile491Phe)
c.1462A>T (p.Ile488Phe)
c.1489A>T (p.Ile497Phe)
c.1486A>T (p.Ile496Phe)
c.1468A>T (p.Ile490Phe)
c.1411A>T (p.Ile471Phe)
c.1459A>T (p.Ile487Phe)
c.1465A>T (p.Ile489Phe)
c.1381A>T (p.Ile461Phe)
c.1309A>T (p.Ile437Phe)
c.604A>T (p.Ile202Phe)
9g.137757991T>ACA375766474EHMT1c.1481T>A (p.Ile494Asn)
c.1367T>A (p.Ile456Asn)
c.1388T>A (p.Ile463Asn)
c.1521T>A (n.1521T>A)
c.1426T>A
c.1108T>A
c.650T>A (p.Ile217Asn)
c.*1216T>A (n.*1216T>A)
c.338T>A (p.Ile113Asn)
c.173T>A (p.Ile58Asn)
c.574T>A
c.1472T>A (p.Ile491Asn)
c.1463T>A (p.Ile488Asn)
c.1490T>A (p.Ile497Asn)
c.1487T>A (p.Ile496Asn)
c.1469T>A (p.Ile490Asn)
c.1412T>A (p.Ile471Asn)
c.1460T>A (p.Ile487Asn)
c.1466T>A (p.Ile489Asn)
c.1382T>A (p.Ile461Asn)
c.1310T>A (p.Ile437Asn)
c.605T>A (p.Ile202Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.137757991T>CCA375766475EHMT1c.1481T>C (p.Ile494Thr)
c.1367T>C (p.Ile456Thr)
c.1388T>C (p.Ile463Thr)
c.1521T>C (n.1521T>C)
c.1426T>C
c.1108T>C
c.650T>C (p.Ile217Thr)
c.*1216T>C (n.*1216T>C)
c.338T>C (p.Ile113Thr)
c.173T>C (p.Ile58Thr)
c.574T>C
c.1472T>C (p.Ile491Thr)
c.1463T>C (p.Ile488Thr)
c.1490T>C (p.Ile497Thr)
c.1487T>C (p.Ile496Thr)
c.1469T>C (p.Ile490Thr)
c.1412T>C (p.Ile471Thr)
c.1460T>C (p.Ile487Thr)
c.1466T>C (p.Ile489Thr)
c.1382T>C (p.Ile461Thr)
c.1310T>C (p.Ile437Thr)
c.605T>C (p.Ile202Thr)
9g.137757991T>GCA375766477EHMT1c.1481T>G (p.Ile494Ser)
c.1367T>G (p.Ile456Ser)
c.1388T>G (p.Ile463Ser)
c.1521T>G (n.1521T>G)
c.1426T>G
c.1108T>G
c.650T>G (p.Ile217Ser)
c.*1216T>G (n.*1216T>G)
c.338T>G (p.Ile113Ser)
c.173T>G (p.Ile58Ser)
c.574T>G
c.1472T>G (p.Ile491Ser)
c.1463T>G (p.Ile488Ser)
c.1490T>G (p.Ile497Ser)
c.1487T>G (p.Ile496Ser)
c.1469T>G (p.Ile490Ser)
c.1412T>G (p.Ile471Ser)
c.1460T>G (p.Ile487Ser)
c.1466T>G (p.Ile489Ser)
c.1382T>G (p.Ile461Ser)
c.1310T>G (p.Ile437Ser)
c.605T>G (p.Ile202Ser)
9g.137757991T=CA1884657148EHMT1c.1481T= (p.Ile494=)
c.1367T= (p.Ile456=)
c.1388T= (p.Ile463=)
c.1521T= (n.1521T=)
c.1426T=
c.1108T=
c.650T= (p.Ile217=)
c.*1216T= (n.*1216T=)
c.338T= (p.Ile113=)
c.173T= (p.Ile58=)
c.574T=
c.1472T= (p.Ile491=)
c.1463T= (p.Ile488=)
c.1490T= (p.Ile497=)
c.1487T= (p.Ile496=)
c.1469T= (p.Ile490=)
c.1412T= (p.Ile471=)
c.1460T= (p.Ile487=)
c.1466T= (p.Ile489=)
c.1382T= (p.Ile461=)
c.1310T= (p.Ile437=)
c.605T= (p.Ile202=)
9g.137757992T>ACA467873825EHMT1c.1482T>A (p.Ile494=)
c.1368T>A (p.Ile456=)
c.1389T>A (p.Ile463=)
c.1522T>A (n.1522T>A)
c.1427T>A
c.1109T>A
c.651T>A (p.Ile217=)
c.*1217T>A (n.*1217T>A)
c.339T>A (p.Ile113=)
c.174T>A (p.Ile58=)
c.575T>A
c.1473T>A (p.Ile491=)
c.1464T>A (p.Ile488=)
c.1491T>A (p.Ile497=)
c.1488T>A (p.Ile496=)
c.1470T>A (p.Ile490=)
c.1413T>A (p.Ile471=)
c.1461T>A (p.Ile487=)
c.1467T>A (p.Ile489=)
c.1383T>A (p.Ile461=)
c.1311T>A (p.Ile437=)
c.606T>A (p.Ile202=)
9g.137757992T>CCA467873824EHMT1c.1482T>C (p.Ile494=)
c.1368T>C (p.Ile456=)
c.1389T>C (p.Ile463=)
c.1522T>C (n.1522T>C)
c.1427T>C
c.1109T>C
c.651T>C (p.Ile217=)
c.*1217T>C (n.*1217T>C)
c.339T>C (p.Ile113=)
c.174T>C (p.Ile58=)
c.575T>C
c.1473T>C (p.Ile491=)
c.1464T>C (p.Ile488=)
c.1491T>C (p.Ile497=)
c.1488T>C (p.Ile496=)
c.1470T>C (p.Ile490=)
c.1413T>C (p.Ile471=)
c.1461T>C (p.Ile487=)
c.1467T>C (p.Ile489=)
c.1383T>C (p.Ile461=)
c.1311T>C (p.Ile437=)
c.606T>C (p.Ile202=)
9g.137757992T>GCA375766480EHMT1c.1482T>G (p.Ile494Met)
c.1368T>G (p.Ile456Met)
c.1389T>G (p.Ile463Met)
c.1522T>G (n.1522T>G)
c.1427T>G
c.1109T>G
c.651T>G (p.Ile217Met)
c.*1217T>G (n.*1217T>G)
c.339T>G (p.Ile113Met)
c.174T>G (p.Ile58Met)
c.575T>G
c.1473T>G (p.Ile491Met)
c.1464T>G (p.Ile488Met)
c.1491T>G (p.Ile497Met)
c.1488T>G (p.Ile496Met)
c.1470T>G (p.Ile490Met)
c.1413T>G (p.Ile471Met)
c.1461T>G (p.Ile487Met)
c.1467T>G (p.Ile489Met)
c.1383T>G (p.Ile461Met)
c.1311T>G (p.Ile437Met)
c.606T>G (p.Ile202Met)
9g.137757993C>ACA375766487EHMT1c.1483C>A (p.Leu495Met)
c.1369C>A (p.Leu457Met)
c.1390C>A (p.Leu464Met)
c.1523C>A (n.1523C>A)
c.1428C>A
c.1110C>A
c.652C>A (p.Leu218Met)
c.*1218C>A (n.*1218C>A)
c.340C>A (p.Leu114Met)
c.175C>A (p.Leu59Met)
c.576C>A
c.1474C>A (p.Leu492Met)
c.1465C>A (p.Leu489Met)
c.1492C>A (p.Leu498Met)
c.1489C>A (p.Leu497Met)
c.1471C>A (p.Leu491Met)
c.1414C>A (p.Leu472Met)
c.1462C>A (p.Leu488Met)
c.1468C>A (p.Leu490Met)
c.1384C>A (p.Leu462Met)
c.1312C>A (p.Leu438Met)
c.607C>A (p.Leu203Met)
 dbSNP gnomAD v2 gnomAD v4
9g.137757993C=CA1884657149EHMT1c.1483C= (p.Leu495=)
c.1369C= (p.Leu457=)
c.1390C= (p.Leu464=)
c.1523C= (n.1523C=)
c.1428C=
c.1110C=
c.652C= (p.Leu218=)
c.*1218C= (n.*1218C=)
c.340C= (p.Leu114=)
c.175C= (p.Leu59=)
c.576C=
c.1474C= (p.Leu492=)
c.1465C= (p.Leu489=)
c.1492C= (p.Leu498=)
c.1489C= (p.Leu497=)
c.1471C= (p.Leu491=)
c.1414C= (p.Leu472=)
c.1462C= (p.Leu488=)
c.1468C= (p.Leu490=)
c.1384C= (p.Leu462=)
c.1312C= (p.Leu438=)
c.607C= (p.Leu203=)
9g.137757993C>GCA375766484EHMT1c.1483C>G (p.Leu495Val)
c.1369C>G (p.Leu457Val)
c.1390C>G (p.Leu464Val)
c.1523C>G (n.1523C>G)
c.1428C>G
c.1110C>G
c.652C>G (p.Leu218Val)
c.*1218C>G (n.*1218C>G)
c.340C>G (p.Leu114Val)
c.175C>G (p.Leu59Val)
c.576C>G
c.1474C>G (p.Leu492Val)
c.1465C>G (p.Leu489Val)
c.1492C>G (p.Leu498Val)
c.1489C>G (p.Leu497Val)
c.1471C>G (p.Leu491Val)
c.1414C>G (p.Leu472Val)
c.1462C>G (p.Leu488Val)
c.1468C>G (p.Leu490Val)
c.1384C>G (p.Leu462Val)
c.1312C>G (p.Leu438Val)
c.607C>G (p.Leu203Val)
9g.137757993C>TCA467873826EHMT1c.1483C>T (p.Leu495=)
c.1369C>T (p.Leu457=)
c.1390C>T (p.Leu464=)
c.1523C>T (n.1523C>T)
c.1428C>T
c.1110C>T
c.652C>T (p.Leu218=)
c.*1218C>T (n.*1218C>T)
c.340C>T (p.Leu114=)
c.175C>T (p.Leu59=)
c.576C>T
c.1474C>T (p.Leu492=)
c.1465C>T (p.Leu489=)
c.1492C>T (p.Leu498=)
c.1489C>T (p.Leu497=)
c.1471C>T (p.Leu491=)
c.1414C>T (p.Leu472=)
c.1462C>T (p.Leu488=)
c.1468C>T (p.Leu490=)
c.1384C>T (p.Leu462=)
c.1312C>T (p.Leu438=)
c.607C>T (p.Leu203=)
9g.137757994T>ACA375766490EHMT1c.1484T>A (p.Leu495Gln)
c.1370T>A (p.Leu457Gln)
c.1391T>A (p.Leu464Gln)
c.1524T>A (n.1524T>A)
c.1429T>A
c.1111T>A
c.653T>A (p.Leu218Gln)
c.*1219T>A (n.*1219T>A)
c.341T>A (p.Leu114Gln)
c.176T>A (p.Leu59Gln)
c.577T>A
c.1475T>A (p.Leu492Gln)
c.1466T>A (p.Leu489Gln)
c.1493T>A (p.Leu498Gln)
c.1490T>A (p.Leu497Gln)
c.1472T>A (p.Leu491Gln)
c.1415T>A (p.Leu472Gln)
c.1463T>A (p.Leu488Gln)
c.1469T>A (p.Leu490Gln)
c.1385T>A (p.Leu462Gln)
c.1313T>A (p.Leu438Gln)
c.608T>A (p.Leu203Gln)
9g.137757994T>CCA375766493EHMT1c.1484T>C (p.Leu495Pro)
c.1370T>C (p.Leu457Pro)
c.1391T>C (p.Leu464Pro)
c.1524T>C (n.1524T>C)
c.1429T>C
c.1111T>C
c.653T>C (p.Leu218Pro)
c.*1219T>C (n.*1219T>C)
c.341T>C (p.Leu114Pro)
c.176T>C (p.Leu59Pro)
c.577T>C
c.1475T>C (p.Leu492Pro)
c.1466T>C (p.Leu489Pro)
c.1493T>C (p.Leu498Pro)
c.1490T>C (p.Leu497Pro)
c.1472T>C (p.Leu491Pro)
c.1415T>C (p.Leu472Pro)
c.1463T>C (p.Leu488Pro)
c.1469T>C (p.Leu490Pro)
c.1385T>C (p.Leu462Pro)
c.1313T>C (p.Leu438Pro)
c.608T>C (p.Leu203Pro)
9g.137757994T>GCA375766497EHMT1c.1484T>G (p.Leu495Arg)
c.1370T>G (p.Leu457Arg)
c.1391T>G (p.Leu464Arg)
c.1524T>G (n.1524T>G)
c.1429T>G
c.1111T>G
c.653T>G (p.Leu218Arg)
c.*1219T>G (n.*1219T>G)
c.341T>G (p.Leu114Arg)
c.176T>G (p.Leu59Arg)
c.577T>G
c.1475T>G (p.Leu492Arg)
c.1466T>G (p.Leu489Arg)
c.1493T>G (p.Leu498Arg)
c.1490T>G (p.Leu497Arg)
c.1472T>G (p.Leu491Arg)
c.1415T>G (p.Leu472Arg)
c.1463T>G (p.Leu488Arg)
c.1469T>G (p.Leu490Arg)
c.1385T>G (p.Leu462Arg)
c.1313T>G (p.Leu438Arg)
c.608T>G (p.Leu203Arg)
9g.137757995G>ACA467873827EHMT1c.1485G>A (p.Leu495=)
c.1371G>A (p.Leu457=)
c.1392G>A (p.Leu464=)
c.1525G>A (n.1525G>A)
c.1430G>A
c.1112G>A
c.654G>A (p.Leu218=)
c.*1220G>A (n.*1220G>A)
c.342G>A (p.Leu114=)
c.177G>A (p.Leu59=)
c.578G>A
c.1476G>A (p.Leu492=)
c.1467G>A (p.Leu489=)
c.1494G>A (p.Leu498=)
c.1491G>A (p.Leu497=)
c.1473G>A (p.Leu491=)
c.1416G>A (p.Leu472=)
c.1464G>A (p.Leu488=)
c.1470G>A (p.Leu490=)
c.1386G>A (p.Leu462=)
c.1314G>A (p.Leu438=)
c.609G>A (p.Leu203=)
9g.137757995G>CCA467873828EHMT1c.1485G>C (p.Leu495=)
c.1371G>C (p.Leu457=)
c.1392G>C (p.Leu464=)
c.1525G>C (n.1525G>C)
c.1430G>C
c.1112G>C
c.654G>C (p.Leu218=)
c.*1220G>C (n.*1220G>C)
c.342G>C (p.Leu114=)
c.177G>C (p.Leu59=)
c.578G>C
c.1476G>C (p.Leu492=)
c.1467G>C (p.Leu489=)
c.1494G>C (p.Leu498=)
c.1491G>C (p.Leu497=)
c.1473G>C (p.Leu491=)
c.1416G>C (p.Leu472=)
c.1464G>C (p.Leu488=)
c.1470G>C (p.Leu490=)
c.1386G>C (p.Leu462=)
c.1314G>C (p.Leu438=)
c.609G>C (p.Leu203=)
9g.137757995G>TCA467873829EHMT1c.1485G>T (p.Leu495=)
c.1371G>T (p.Leu457=)
c.1392G>T (p.Leu464=)
c.1525G>T (n.1525G>T)
c.1430G>T
c.1112G>T
c.654G>T (p.Leu218=)
c.*1220G>T (n.*1220G>T)
c.342G>T (p.Leu114=)
c.177G>T (p.Leu59=)
c.578G>T
c.1476G>T (p.Leu492=)
c.1467G>T (p.Leu489=)
c.1494G>T (p.Leu498=)
c.1491G>T (p.Leu497=)
c.1473G>T (p.Leu491=)
c.1416G>T (p.Leu472=)
c.1464G>T (p.Leu488=)
c.1470G>T (p.Leu490=)
c.1386G>T (p.Leu462=)
c.1314G>T (p.Leu438=)
c.609G>T (p.Leu203=)
9g.137757996T>ACA375766500EHMT1c.1486T>A (p.Ser496Thr)
c.1372T>A (p.Ser458Thr)
c.1393T>A (p.Ser465Thr)
c.1526T>A (n.1526T>A)
c.1431T>A
c.1113T>A
c.655T>A (p.Ser219Thr)
c.*1221T>A (n.*1221T>A)
c.343T>A (p.Ser115Thr)
c.178T>A (p.Ser60Thr)
c.579T>A
c.1477T>A (p.Ser493Thr)
c.1468T>A (p.Ser490Thr)
c.1495T>A (p.Ser499Thr)
c.1492T>A (p.Ser498Thr)
c.1474T>A (p.Ser492Thr)
c.1417T>A (p.Ser473Thr)
c.1465T>A (p.Ser489Thr)
c.1471T>A (p.Ser491Thr)
c.1387T>A (p.Ser463Thr)
c.1315T>A (p.Ser439Thr)
c.610T>A (p.Ser204Thr)
9g.137757996T>CCA5374631EHMT1c.1486T>C (p.Ser496Pro)
c.1372T>C (p.Ser458Pro)
c.1393T>C (p.Ser465Pro)
c.1526T>C (n.1526T>C)
c.1431T>C
c.1113T>C
c.655T>C (p.Ser219Pro)
c.*1221T>C (n.*1221T>C)
c.343T>C (p.Ser115Pro)
c.178T>C (p.Ser60Pro)
c.579T>C
c.1477T>C (p.Ser493Pro)
c.1468T>C (p.Ser490Pro)
c.1495T>C (p.Ser499Pro)
c.1492T>C (p.Ser498Pro)
c.1474T>C (p.Ser492Pro)
c.1417T>C (p.Ser473Pro)
c.1465T>C (p.Ser489Pro)
c.1471T>C (p.Ser491Pro)
c.1387T>C (p.Ser463Pro)
c.1315T>C (p.Ser439Pro)
c.610T>C (p.Ser204Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137757996T>GCA375766501EHMT1c.1486T>G (p.Ser496Ala)
c.1372T>G (p.Ser458Ala)
c.1393T>G (p.Ser465Ala)
c.1526T>G (n.1526T>G)
c.1431T>G
c.1113T>G
c.655T>G (p.Ser219Ala)
c.*1221T>G (n.*1221T>G)
c.343T>G (p.Ser115Ala)
c.178T>G (p.Ser60Ala)
c.579T>G
c.1477T>G (p.Ser493Ala)
c.1468T>G (p.Ser490Ala)
c.1495T>G (p.Ser499Ala)
c.1492T>G (p.Ser498Ala)
c.1474T>G (p.Ser492Ala)
c.1417T>G (p.Ser473Ala)
c.1465T>G (p.Ser489Ala)
c.1471T>G (p.Ser491Ala)
c.1387T>G (p.Ser463Ala)
c.1315T>G (p.Ser439Ala)
c.610T>G (p.Ser204Ala)
9g.137757996T=CA1884657150EHMT1c.1486T= (p.Ser496=)
c.1372T= (p.Ser458=)
c.1393T= (p.Ser465=)
c.1526T= (n.1526T=)
c.1431T=
c.1113T=
c.655T= (p.Ser219=)
c.*1221T= (n.*1221T=)
c.343T= (p.Ser115=)
c.178T= (p.Ser60=)
c.579T=
c.1477T= (p.Ser493=)
c.1468T= (p.Ser490=)
c.1495T= (p.Ser499=)
c.1492T= (p.Ser498=)
c.1474T= (p.Ser492=)
c.1417T= (p.Ser473=)
c.1465T= (p.Ser489=)
c.1471T= (p.Ser491=)
c.1387T= (p.Ser463=)
c.1315T= (p.Ser439=)
c.610T= (p.Ser204=)
9g.137757997C>ACA375766505EHMT1c.1487C>A (p.Ser496Tyr)
c.1373C>A (p.Ser458Tyr)
c.1394C>A (p.Ser465Tyr)
c.1527C>A (n.1527C>A)
c.1432C>A
c.1114C>A
c.656C>A (p.Ser219Tyr)
c.*1222C>A (n.*1222C>A)
c.344C>A (p.Ser115Tyr)
c.179C>A (p.Ser60Tyr)
c.580C>A
c.1478C>A (p.Ser493Tyr)
c.1469C>A (p.Ser490Tyr)
c.1496C>A (p.Ser499Tyr)
c.1493C>A (p.Ser498Tyr)
c.1475C>A (p.Ser492Tyr)
c.1418C>A (p.Ser473Tyr)
c.1466C>A (p.Ser489Tyr)
c.1472C>A (p.Ser491Tyr)
c.1388C>A (p.Ser463Tyr)
c.1316C>A (p.Ser439Tyr)
c.611C>A (p.Ser204Tyr)
 gnomAD v4
9g.137757997C>GCA375766508EHMT1c.1487C>G (p.Ser496Cys)
c.1373C>G (p.Ser458Cys)
c.1394C>G (p.Ser465Cys)
c.1527C>G (n.1527C>G)
c.1432C>G
c.1114C>G
c.656C>G (p.Ser219Cys)
c.*1222C>G (n.*1222C>G)
c.344C>G (p.Ser115Cys)
c.179C>G (p.Ser60Cys)
c.580C>G
c.1478C>G (p.Ser493Cys)
c.1469C>G (p.Ser490Cys)
c.1496C>G (p.Ser499Cys)
c.1493C>G (p.Ser498Cys)
c.1475C>G (p.Ser492Cys)
c.1418C>G (p.Ser473Cys)
c.1466C>G (p.Ser489Cys)
c.1472C>G (p.Ser491Cys)
c.1388C>G (p.Ser463Cys)
c.1316C>G (p.Ser439Cys)
c.611C>G (p.Ser204Cys)
9g.137757997C>TCA375766512EHMT1c.1487C>T (p.Ser496Phe)
c.1373C>T (p.Ser458Phe)
c.1394C>T (p.Ser465Phe)
c.1527C>T (n.1527C>T)
c.1432C>T
c.1114C>T
c.656C>T (p.Ser219Phe)
c.*1222C>T (n.*1222C>T)
c.344C>T (p.Ser115Phe)
c.179C>T (p.Ser60Phe)
c.580C>T
c.1478C>T (p.Ser493Phe)
c.1469C>T (p.Ser490Phe)
c.1496C>T (p.Ser499Phe)
c.1493C>T (p.Ser498Phe)
c.1475C>T (p.Ser492Phe)
c.1418C>T (p.Ser473Phe)
c.1466C>T (p.Ser489Phe)
c.1472C>T (p.Ser491Phe)
c.1388C>T (p.Ser463Phe)
c.1316C>T (p.Ser439Phe)
c.611C>T (p.Ser204Phe)
9g.137757998T>ACA467873830EHMT1c.1488T>A (p.Ser496=)
c.1374T>A (p.Ser458=)
c.1395T>A (p.Ser465=)
c.1528T>A (n.1528T>A)
c.1433T>A
c.1115T>A
c.657T>A (p.Ser219=)
c.*1223T>A (n.*1223T>A)
c.345T>A (p.Ser115=)
c.180T>A (p.Ser60=)
c.581T>A
c.1479T>A (p.Ser493=)
c.1470T>A (p.Ser490=)
c.1497T>A (p.Ser499=)
c.1494T>A (p.Ser498=)
c.1476T>A (p.Ser492=)
c.1419T>A (p.Ser473=)
c.1467T>A (p.Ser489=)
c.1473T>A (p.Ser491=)
c.1389T>A (p.Ser463=)
c.1317T>A (p.Ser439=)
c.612T>A (p.Ser204=)
9g.137757998T>CCA467873832EHMT1c.1488T>C (p.Ser496=)
c.1374T>C (p.Ser458=)
c.1395T>C (p.Ser465=)
c.1528T>C (n.1528T>C)
c.1433T>C
c.1115T>C
c.657T>C (p.Ser219=)
c.*1223T>C (n.*1223T>C)
c.345T>C (p.Ser115=)
c.180T>C (p.Ser60=)
c.581T>C
c.1479T>C (p.Ser493=)
c.1470T>C (p.Ser490=)
c.1497T>C (p.Ser499=)
c.1494T>C (p.Ser498=)
c.1476T>C (p.Ser492=)
c.1419T>C (p.Ser473=)
c.1467T>C (p.Ser489=)
c.1473T>C (p.Ser491=)
c.1389T>C (p.Ser463=)
c.1317T>C (p.Ser439=)
c.612T>C (p.Ser204=)
9g.137757998T>GCA467873831EHMT1c.1488T>G (p.Ser496=)
c.1374T>G (p.Ser458=)
c.1395T>G (p.Ser465=)
c.1528T>G (n.1528T>G)
c.1433T>G
c.1115T>G
c.657T>G (p.Ser219=)
c.*1223T>G (n.*1223T>G)
c.345T>G (p.Ser115=)
c.180T>G (p.Ser60=)
c.581T>G
c.1479T>G (p.Ser493=)
c.1470T>G (p.Ser490=)
c.1497T>G (p.Ser499=)
c.1494T>G (p.Ser498=)
c.1476T>G (p.Ser492=)
c.1419T>G (p.Ser473=)
c.1467T>G (p.Ser489=)
c.1473T>G (p.Ser491=)
c.1389T>G (p.Ser463=)
c.1317T>G (p.Ser439=)
c.612T>G (p.Ser204=)
9g.137757999T>ACA375766516EHMT1c.1489T>A (p.Ser497Thr)
c.1375T>A (p.Ser459Thr)
c.1396T>A (p.Ser466Thr)
c.1529T>A (n.1529T>A)
c.1434T>A
c.1116T>A
c.658T>A (p.Ser220Thr)
c.*1224T>A (n.*1224T>A)
c.346T>A (p.Ser116Thr)
c.181T>A (p.Ser61Thr)
c.582T>A
c.1480T>A (p.Ser494Thr)
c.1471T>A (p.Ser491Thr)
c.1498T>A (p.Ser500Thr)
c.1495T>A (p.Ser499Thr)
c.1477T>A (p.Ser493Thr)
c.1420T>A (p.Ser474Thr)
c.1468T>A (p.Ser490Thr)
c.1474T>A (p.Ser492Thr)
c.1390T>A (p.Ser464Thr)
c.1318T>A (p.Ser440Thr)
c.613T>A (p.Ser205Thr)
9g.137757999T>CCA375766518EHMT1c.1489T>C (p.Ser497Pro)
c.1375T>C (p.Ser459Pro)
c.1396T>C (p.Ser466Pro)
c.1529T>C (n.1529T>C)
c.1434T>C
c.1116T>C
c.658T>C (p.Ser220Pro)
c.*1224T>C (n.*1224T>C)
c.346T>C (p.Ser116Pro)
c.181T>C (p.Ser61Pro)
c.582T>C
c.1480T>C (p.Ser494Pro)
c.1471T>C (p.Ser491Pro)
c.1498T>C (p.Ser500Pro)
c.1495T>C (p.Ser499Pro)
c.1477T>C (p.Ser493Pro)
c.1420T>C (p.Ser474Pro)
c.1468T>C (p.Ser490Pro)
c.1474T>C (p.Ser492Pro)
c.1390T>C (p.Ser464Pro)
c.1318T>C (p.Ser440Pro)
c.613T>C (p.Ser205Pro)
9g.137757999T>GCA375766529EHMT1c.1489T>G (p.Ser497Ala)
c.1375T>G (p.Ser459Ala)
c.1396T>G (p.Ser466Ala)
c.1529T>G (n.1529T>G)
c.1434T>G
c.1116T>G
c.658T>G (p.Ser220Ala)
c.*1224T>G (n.*1224T>G)
c.346T>G (p.Ser116Ala)
c.181T>G (p.Ser61Ala)
c.582T>G
c.1480T>G (p.Ser494Ala)
c.1471T>G (p.Ser491Ala)
c.1498T>G (p.Ser500Ala)
c.1495T>G (p.Ser499Ala)
c.1477T>G (p.Ser493Ala)
c.1420T>G (p.Ser474Ala)
c.1468T>G (p.Ser490Ala)
c.1474T>G (p.Ser492Ala)
c.1390T>G (p.Ser464Ala)
c.1318T>G (p.Ser440Ala)
c.613T>G (p.Ser205Ala)
 dbSNP
9g.137757999T=CA1884657151EHMT1c.1489T= (p.Ser497=)
c.1375T= (p.Ser459=)
c.1396T= (p.Ser466=)
c.1529T= (n.1529T=)
c.1434T=
c.1116T=
c.658T= (p.Ser220=)
c.*1224T= (n.*1224T=)
c.346T= (p.Ser116=)
c.181T= (p.Ser61=)
c.582T=
c.1480T= (p.Ser494=)
c.1471T= (p.Ser491=)
c.1498T= (p.Ser500=)
c.1495T= (p.Ser499=)
c.1477T= (p.Ser493=)
c.1420T= (p.Ser474=)
c.1468T= (p.Ser490=)
c.1474T= (p.Ser492=)
c.1390T= (p.Ser464=)
c.1318T= (p.Ser440=)
c.613T= (p.Ser205=)
9g.137758000C>ACA375766535EHMT1c.1490C>A (p.Ser497Ter)
c.1376C>A (p.Ser459Ter)
c.1397C>A (p.Ser466Ter)
c.1530C>A (n.1530C>A)
c.1435C>A
c.1117C>A
c.659C>A (p.Ser220Ter)
c.*1225C>A (n.*1225C>A)
c.347C>A (p.Ser116Ter)
c.182C>A (p.Ser61Ter)
c.583C>A
c.1481C>A (p.Ser494Ter)
c.1472C>A (p.Ser491Ter)
c.1499C>A (p.Ser500Ter)
c.1496C>A (p.Ser499Ter)
c.1478C>A (p.Ser493Ter)
c.1421C>A (p.Ser474Ter)
c.1469C>A (p.Ser490Ter)
c.1475C>A (p.Ser492Ter)
c.1391C>A (p.Ser464Ter)
c.1319C>A (p.Ser440Ter)
c.614C>A (p.Ser205Ter)
9g.137758000C>GCA375766543EHMT1c.1490C>G (p.Ser497Ter)
c.1376C>G (p.Ser459Ter)
c.1397C>G (p.Ser466Ter)
c.1530C>G (n.1530C>G)
c.1435C>G
c.1117C>G
c.659C>G (p.Ser220Ter)
c.*1225C>G (n.*1225C>G)
c.347C>G (p.Ser116Ter)
c.182C>G (p.Ser61Ter)
c.583C>G
c.1481C>G (p.Ser494Ter)
c.1472C>G (p.Ser491Ter)
c.1499C>G (p.Ser500Ter)
c.1496C>G (p.Ser499Ter)
c.1478C>G (p.Ser493Ter)
c.1421C>G (p.Ser474Ter)
c.1469C>G (p.Ser490Ter)
c.1475C>G (p.Ser492Ter)
c.1391C>G (p.Ser464Ter)
c.1319C>G (p.Ser440Ter)
c.614C>G (p.Ser205Ter)
9g.137758000C>TCA375766539EHMT1c.1490C>T (p.Ser497Leu)
c.1376C>T (p.Ser459Leu)
c.1397C>T (p.Ser466Leu)
c.1530C>T (n.1530C>T)
c.1435C>T
c.1117C>T
c.659C>T (p.Ser220Leu)
c.*1225C>T (n.*1225C>T)
c.347C>T (p.Ser116Leu)
c.182C>T (p.Ser61Leu)
c.583C>T
c.1481C>T (p.Ser494Leu)
c.1472C>T (p.Ser491Leu)
c.1499C>T (p.Ser500Leu)
c.1496C>T (p.Ser499Leu)
c.1478C>T (p.Ser493Leu)
c.1421C>T (p.Ser474Leu)
c.1469C>T (p.Ser490Leu)
c.1475C>T (p.Ser492Leu)
c.1391C>T (p.Ser464Leu)
c.1319C>T (p.Ser440Leu)
c.614C>T (p.Ser205Leu)
9g.137758001A>CCA467873833EHMT1c.1491A>C (p.Ser497=)
c.1377A>C (p.Ser459=)
c.1398A>C (p.Ser466=)
c.1531A>C (n.1531A>C)
c.1436A>C
c.1118A>C
c.660A>C (p.Ser220=)
c.*1226A>C (n.*1226A>C)
c.348A>C (p.Ser116=)
c.183A>C (p.Ser61=)
c.584A>C
c.1482A>C (p.Ser494=)
c.1473A>C (p.Ser491=)
c.1500A>C (p.Ser500=)
c.1497A>C (p.Ser499=)
c.1479A>C (p.Ser493=)
c.1422A>C (p.Ser474=)
c.1470A>C (p.Ser490=)
c.1476A>C (p.Ser492=)
c.1392A>C (p.Ser464=)
c.1320A>C (p.Ser440=)
c.615A>C (p.Ser205=)
9g.137758001A>GCA467873835EHMT1c.1491A>G (p.Ser497=)
c.1377A>G (p.Ser459=)
c.1398A>G (p.Ser466=)
c.1531A>G (n.1531A>G)
c.1436A>G
c.1118A>G
c.660A>G (p.Ser220=)
c.*1226A>G (n.*1226A>G)
c.348A>G (p.Ser116=)
c.183A>G (p.Ser61=)
c.584A>G
c.1482A>G (p.Ser494=)
c.1473A>G (p.Ser491=)
c.1500A>G (p.Ser500=)
c.1497A>G (p.Ser499=)
c.1479A>G (p.Ser493=)
c.1422A>G (p.Ser474=)
c.1470A>G (p.Ser490=)
c.1476A>G (p.Ser492=)
c.1392A>G (p.Ser464=)
c.1320A>G (p.Ser440=)
c.615A>G (p.Ser205=)
9g.137758001A>TCA467873834EHMT1c.1491A>T (p.Ser497=)
c.1377A>T (p.Ser459=)
c.1398A>T (p.Ser466=)
c.1531A>T (n.1531A>T)
c.1436A>T
c.1118A>T
c.660A>T (p.Ser220=)
c.*1226A>T (n.*1226A>T)
c.348A>T (p.Ser116=)
c.183A>T (p.Ser61=)
c.584A>T
c.1482A>T (p.Ser494=)
c.1473A>T (p.Ser491=)
c.1500A>T (p.Ser500=)
c.1497A>T (p.Ser499=)
c.1479A>T (p.Ser493=)
c.1422A>T (p.Ser474=)
c.1470A>T (p.Ser490=)
c.1476A>T (p.Ser492=)
c.1392A>T (p.Ser464=)
c.1320A>T (p.Ser440=)
c.615A>T (p.Ser205=)
9g.137758002C>ACA375766549EHMT1c.1492C>A (p.Gln498Lys)
c.1378C>A (p.Gln460Lys)
c.1399C>A (p.Gln467Lys)
c.1532C>A (n.1532C>A)
c.1437C>A
c.1119C>A
c.661C>A (p.Gln221Lys)
c.*1227C>A (n.*1227C>A)
c.349C>A (p.Gln117Lys)
c.184C>A (p.Gln62Lys)
c.585C>A
c.1483C>A (p.Gln495Lys)
c.1474C>A (p.Gln492Lys)
c.1501C>A (p.Gln501Lys)
c.1498C>A (p.Gln500Lys)
c.1480C>A (p.Gln494Lys)
c.1423C>A (p.Gln475Lys)
c.1471C>A (p.Gln491Lys)
c.1477C>A (p.Gln493Lys)
c.1393C>A (p.Gln465Lys)
c.1321C>A (p.Gln441Lys)
c.616C>A (p.Gln206Lys)
9g.137758002C>GCA375766554EHMT1c.1492C>G (p.Gln498Glu)
c.1378C>G (p.Gln460Glu)
c.1399C>G (p.Gln467Glu)
c.1532C>G (n.1532C>G)
c.1437C>G
c.1119C>G
c.661C>G (p.Gln221Glu)
c.*1227C>G (n.*1227C>G)
c.349C>G (p.Gln117Glu)
c.184C>G (p.Gln62Glu)
c.585C>G
c.1483C>G (p.Gln495Glu)
c.1474C>G (p.Gln492Glu)
c.1501C>G (p.Gln501Glu)
c.1498C>G (p.Gln500Glu)
c.1480C>G (p.Gln494Glu)
c.1423C>G (p.Gln475Glu)
c.1471C>G (p.Gln491Glu)
c.1477C>G (p.Gln493Glu)
c.1393C>G (p.Gln465Glu)
c.1321C>G (p.Gln441Glu)
c.616C>G (p.Gln206Glu)
9g.137758002C>TCA375766558EHMT1c.1492C>T (p.Gln498Ter)
c.1378C>T (p.Gln460Ter)
c.1399C>T (p.Gln467Ter)
c.1532C>T (n.1532C>T)
c.1437C>T
c.1119C>T
c.661C>T (p.Gln221Ter)
c.*1227C>T (n.*1227C>T)
c.349C>T (p.Gln117Ter)
c.184C>T (p.Gln62Ter)
c.585C>T
c.1483C>T (p.Gln495Ter)
c.1474C>T (p.Gln492Ter)
c.1501C>T (p.Gln501Ter)
c.1498C>T (p.Gln500Ter)
c.1480C>T (p.Gln494Ter)
c.1423C>T (p.Gln475Ter)
c.1471C>T (p.Gln491Ter)
c.1477C>T (p.Gln493Ter)
c.1393C>T (p.Gln465Ter)
c.1321C>T (p.Gln441Ter)
c.616C>T (p.Gln206Ter)
9g.137758003A=CA1884657152EHMT1c.1493A= (p.Gln498=)
c.1379A= (p.Gln460=)
c.1400A= (p.Gln467=)
c.1533A= (n.1533A=)
c.1438A=
c.1120A=
c.662A= (p.Gln221=)
c.*1228A= (n.*1228A=)
c.350A= (p.Gln117=)
c.185A= (p.Gln62=)
c.586A=
c.1484A= (p.Gln495=)
c.1475A= (p.Gln492=)
c.1502A= (p.Gln501=)
c.1499A= (p.Gln500=)
c.1481A= (p.Gln494=)
c.1424A= (p.Gln475=)
c.1472A= (p.Gln491=)
c.1478A= (p.Gln493=)
c.1394A= (p.Gln465=)
c.1322A= (p.Gln441=)
c.617A= (p.Gln206=)
9g.137758003A>CCA375766560EHMT1c.1493A>C (p.Gln498Pro)
c.1379A>C (p.Gln460Pro)
c.1400A>C (p.Gln467Pro)
c.1533A>C (n.1533A>C)
c.1438A>C
c.1120A>C
c.662A>C (p.Gln221Pro)
c.*1228A>C (n.*1228A>C)
c.350A>C (p.Gln117Pro)
c.185A>C (p.Gln62Pro)
c.586A>C
c.1484A>C (p.Gln495Pro)
c.1475A>C (p.Gln492Pro)
c.1502A>C (p.Gln501Pro)
c.1499A>C (p.Gln500Pro)
c.1481A>C (p.Gln494Pro)
c.1424A>C (p.Gln475Pro)
c.1472A>C (p.Gln491Pro)
c.1478A>C (p.Gln493Pro)
c.1394A>C (p.Gln465Pro)
c.1322A>C (p.Gln441Pro)
c.617A>C (p.Gln206Pro)
9g.137758003A>GCA375766562EHMT1c.1493A>G (p.Gln498Arg)
c.1379A>G (p.Gln460Arg)
c.1400A>G (p.Gln467Arg)
c.1533A>G (n.1533A>G)
c.1438A>G
c.1120A>G
c.662A>G (p.Gln221Arg)
c.*1228A>G (n.*1228A>G)
c.350A>G (p.Gln117Arg)
c.185A>G (p.Gln62Arg)
c.586A>G
c.1484A>G (p.Gln495Arg)
c.1475A>G (p.Gln492Arg)
c.1502A>G (p.Gln501Arg)
c.1499A>G (p.Gln500Arg)
c.1481A>G (p.Gln494Arg)
c.1424A>G (p.Gln475Arg)
c.1472A>G (p.Gln491Arg)
c.1478A>G (p.Gln493Arg)
c.1394A>G (p.Gln465Arg)
c.1322A>G (p.Gln441Arg)
c.617A>G (p.Gln206Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.137758003A>TCA375766565EHMT1c.1493A>T (p.Gln498Leu)
c.1379A>T (p.Gln460Leu)
c.1400A>T (p.Gln467Leu)
c.1533A>T (n.1533A>T)
c.1438A>T
c.1120A>T
c.662A>T (p.Gln221Leu)
c.*1228A>T (n.*1228A>T)
c.350A>T (p.Gln117Leu)
c.185A>T (p.Gln62Leu)
c.586A>T
c.1484A>T (p.Gln495Leu)
c.1475A>T (p.Gln492Leu)
c.1502A>T (p.Gln501Leu)
c.1499A>T (p.Gln500Leu)
c.1481A>T (p.Gln494Leu)
c.1424A>T (p.Gln475Leu)
c.1472A>T (p.Gln491Leu)
c.1478A>T (p.Gln493Leu)
c.1394A>T (p.Gln465Leu)
c.1322A>T (p.Gln441Leu)
c.617A>T (p.Gln206Leu)
9g.137758004A>CCA375766568EHMT1c.1494A>C (p.Gln498His)
c.1380A>C (p.Gln460His)
c.1401A>C (p.Gln467His)
c.1534A>C (n.1534A>C)
c.1439A>C
c.1121A>C
c.663A>C (p.Gln221His)
c.*1229A>C (n.*1229A>C)
c.351A>C (p.Gln117His)
c.186A>C (p.Gln62His)
c.587A>C
c.1485A>C (p.Gln495His)
c.1476A>C (p.Gln492His)
c.1503A>C (p.Gln501His)
c.1500A>C (p.Gln500His)
c.1482A>C (p.Gln494His)
c.1425A>C (p.Gln475His)
c.1473A>C (p.Gln491His)
c.1479A>C (p.Gln493His)
c.1395A>C (p.Gln465His)
c.1323A>C (p.Gln441His)
c.618A>C (p.Gln206His)
9g.137758004A>GCA467873836EHMT1c.1494A>G (p.Gln498=)
c.1380A>G (p.Gln460=)
c.1401A>G (p.Gln467=)
c.1534A>G (n.1534A>G)
c.1439A>G
c.1121A>G
c.663A>G (p.Gln221=)
c.*1229A>G (n.*1229A>G)
c.351A>G (p.Gln117=)
c.186A>G (p.Gln62=)
c.587A>G
c.1485A>G (p.Gln495=)
c.1476A>G (p.Gln492=)
c.1503A>G (p.Gln501=)
c.1500A>G (p.Gln500=)
c.1482A>G (p.Gln494=)
c.1425A>G (p.Gln475=)
c.1473A>G (p.Gln491=)
c.1479A>G (p.Gln493=)
c.1395A>G (p.Gln465=)
c.1323A>G (p.Gln441=)
c.618A>G (p.Gln206=)
9g.137758004A>TCA375766570EHMT1c.1494A>T (p.Gln498His)
c.1380A>T (p.Gln460His)
c.1401A>T (p.Gln467His)
c.1534A>T (n.1534A>T)
c.1439A>T
c.1121A>T
c.663A>T (p.Gln221His)
c.*1229A>T (n.*1229A>T)
c.351A>T (p.Gln117His)
c.186A>T (p.Gln62His)
c.587A>T
c.1485A>T (p.Gln495His)
c.1476A>T (p.Gln492His)
c.1503A>T (p.Gln501His)
c.1500A>T (p.Gln500His)
c.1482A>T (p.Gln494His)
c.1425A>T (p.Gln475His)
c.1473A>T (p.Gln491His)
c.1479A>T (p.Gln493His)
c.1395A>T (p.Gln465His)
c.1323A>T (p.Gln441His)
c.618A>T (p.Gln206His)
9g.137758005delCA913190057EHMT1c.1495del (p.Ala499GlnfsTer?)
c.1381del (p.Ala461GlnfsTer?)
c.1402del (p.Ala468GlnfsTer?)
c.1535del (n.1535del)
c.1440del
c.1122del
c.664del (p.Ala222GlnfsTer?)
c.*1230del (n.*1230del)
c.352del (p.Ala118GlnfsTer?)
c.187del (p.Ala63GlnfsTer?)
c.588del
c.1486del (p.Ala496GlnfsTer?)
c.1477del (p.Ala493GlnfsTer?)
c.1504del (p.Ala502GlnfsTer?)
c.1501del (p.Ala501GlnfsTer?)
c.1483del (p.Ala495GlnfsTer?)
c.1426del (p.Ala476GlnfsTer?)
c.1474del (p.Ala492GlnfsTer?)
c.1480del (p.Ala494GlnfsTer?)
c.1396del (p.Ala466GlnfsTer?)
c.1324del (p.Ala442GlnfsTer?)
c.619del (p.Ala207GlnfsTer?)
 ClinVar
9g.137758005G>ACA375766576EHMT1c.1495G>A (p.Ala499Thr)
c.1381G>A (p.Ala461Thr)
c.1402G>A (p.Ala468Thr)
c.1535G>A (n.1535G>A)
c.1440G>A
c.1122G>A
c.664G>A (p.Ala222Thr)
c.*1230G>A (n.*1230G>A)
c.352G>A (p.Ala118Thr)
c.187G>A (p.Ala63Thr)
c.588G>A
c.1486G>A (p.Ala496Thr)
c.1477G>A (p.Ala493Thr)
c.1504G>A (p.Ala502Thr)
c.1501G>A (p.Ala501Thr)
c.1483G>A (p.Ala495Thr)
c.1426G>A (p.Ala476Thr)
c.1474G>A (p.Ala492Thr)
c.1480G>A (p.Ala494Thr)
c.1396G>A (p.Ala466Thr)
c.1324G>A (p.Ala442Thr)
c.619G>A (p.Ala207Thr)
9g.137758005G>CCA375766581EHMT1c.1495G>C (p.Ala499Pro)
c.1381G>C (p.Ala461Pro)
c.1402G>C (p.Ala468Pro)
c.1535G>C (n.1535G>C)
c.1440G>C
c.1122G>C
c.664G>C (p.Ala222Pro)
c.*1230G>C (n.*1230G>C)
c.352G>C (p.Ala118Pro)
c.187G>C (p.Ala63Pro)
c.588G>C
c.1486G>C (p.Ala496Pro)
c.1477G>C (p.Ala493Pro)
c.1504G>C (p.Ala502Pro)
c.1501G>C (p.Ala501Pro)
c.1483G>C (p.Ala495Pro)
c.1426G>C (p.Ala476Pro)
c.1474G>C (p.Ala492Pro)
c.1480G>C (p.Ala494Pro)
c.1396G>C (p.Ala466Pro)
c.1324G>C (p.Ala442Pro)
c.619G>C (p.Ala207Pro)
9g.137758005G>TCA375766587EHMT1c.1495G>T (p.Ala499Ser)
c.1381G>T (p.Ala461Ser)
c.1402G>T (p.Ala468Ser)
c.1535G>T (n.1535G>T)
c.1440G>T
c.1122G>T
c.664G>T (p.Ala222Ser)
c.*1230G>T (n.*1230G>T)
c.352G>T (p.Ala118Ser)
c.187G>T (p.Ala63Ser)
c.588G>T
c.1486G>T (p.Ala496Ser)
c.1477G>T (p.Ala493Ser)
c.1504G>T (p.Ala502Ser)
c.1501G>T (p.Ala501Ser)
c.1483G>T (p.Ala495Ser)
c.1426G>T (p.Ala476Ser)
c.1474G>T (p.Ala492Ser)
c.1480G>T (p.Ala494Ser)
c.1396G>T (p.Ala466Ser)
c.1324G>T (p.Ala442Ser)
c.619G>T (p.Ala207Ser)
9g.137758006C>ACA375766594EHMT1c.1496C>A (p.Ala499Glu)
c.1382C>A (p.Ala461Glu)
c.1403C>A (p.Ala468Glu)
c.1536C>A (n.1536C>A)
c.1441C>A
c.1123C>A
c.665C>A (p.Ala222Glu)
c.*1231C>A (n.*1231C>A)
c.353C>A (p.Ala118Glu)
c.188C>A (p.Ala63Glu)
c.589C>A
c.1487C>A (p.Ala496Glu)
c.1478C>A (p.Ala493Glu)
c.1505C>A (p.Ala502Glu)
c.1502C>A (p.Ala501Glu)
c.1484C>A (p.Ala495Glu)
c.1427C>A (p.Ala476Glu)
c.1475C>A (p.Ala492Glu)
c.1481C>A (p.Ala494Glu)
c.1397C>A (p.Ala466Glu)
c.1325C>A (p.Ala442Glu)
c.620C>A (p.Ala207Glu)
9g.137758006C=CA1884657153EHMT1c.1496C= (p.Ala499=)
c.1382C= (p.Ala461=)
c.1403C= (p.Ala468=)
c.1536C= (n.1536C=)
c.1441C=
c.1123C=
c.665C= (p.Ala222=)
c.*1231C= (n.*1231C=)
c.353C= (p.Ala118=)
c.188C= (p.Ala63=)
c.589C=
c.1487C= (p.Ala496=)
c.1478C= (p.Ala493=)
c.1505C= (p.Ala502=)
c.1502C= (p.Ala501=)
c.1484C= (p.Ala495=)
c.1427C= (p.Ala476=)
c.1475C= (p.Ala492=)
c.1481C= (p.Ala494=)
c.1397C= (p.Ala466=)
c.1325C= (p.Ala442=)
c.620C= (p.Ala207=)
9g.137758006C>GCA375766598EHMT1c.1496C>G (p.Ala499Gly)
c.1382C>G (p.Ala461Gly)
c.1403C>G (p.Ala468Gly)
c.1536C>G (n.1536C>G)
c.1441C>G
c.1123C>G
c.665C>G (p.Ala222Gly)
c.*1231C>G (n.*1231C>G)
c.353C>G (p.Ala118Gly)
c.188C>G (p.Ala63Gly)
c.589C>G
c.1487C>G (p.Ala496Gly)
c.1478C>G (p.Ala493Gly)
c.1505C>G (p.Ala502Gly)
c.1502C>G (p.Ala501Gly)
c.1484C>G (p.Ala495Gly)
c.1427C>G (p.Ala476Gly)
c.1475C>G (p.Ala492Gly)
c.1481C>G (p.Ala494Gly)
c.1397C>G (p.Ala466Gly)
c.1325C>G (p.Ala442Gly)
c.620C>G (p.Ala207Gly)
9g.137758006C>TCA5374632EHMT1c.1496C>T (p.Ala499Val)
c.1382C>T (p.Ala461Val)
c.1403C>T (p.Ala468Val)
c.1536C>T (n.1536C>T)
c.1441C>T
c.1123C>T
c.665C>T (p.Ala222Val)
c.*1231C>T (n.*1231C>T)
c.353C>T (p.Ala118Val)
c.188C>T (p.Ala63Val)
c.589C>T
c.1487C>T (p.Ala496Val)
c.1478C>T (p.Ala493Val)
c.1505C>T (p.Ala502Val)
c.1502C>T (p.Ala501Val)
c.1484C>T (p.Ala495Val)
c.1427C>T (p.Ala476Val)
c.1475C>T (p.Ala492Val)
c.1481C>T (p.Ala494Val)
c.1397C>T (p.Ala466Val)
c.1325C>T (p.Ala442Val)
c.620C>T (p.Ala207Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.137758007A>CCA467873837EHMT1c.1497A>C (p.Ala499=)
c.1383A>C (p.Ala461=)
c.1404A>C (p.Ala468=)
c.1537A>C (n.1537A>C)
c.1442A>C
c.1124A>C
c.666A>C (p.Ala222=)
c.*1232A>C (n.*1232A>C)
c.354A>C (p.Ala118=)
c.189A>C (p.Ala63=)
c.590A>C
c.1488A>C (p.Ala496=)
c.1479A>C (p.Ala493=)
c.1506A>C (p.Ala502=)
c.1503A>C (p.Ala501=)
c.1485A>C (p.Ala495=)
c.1428A>C (p.Ala476=)
c.1476A>C (p.Ala492=)
c.1482A>C (p.Ala494=)
c.1398A>C (p.Ala466=)
c.1326A>C (p.Ala442=)
c.621A>C (p.Ala207=)
9g.137758007A>GCA467873838EHMT1c.1497A>G (p.Ala499=)
c.1383A>G (p.Ala461=)
c.1404A>G (p.Ala468=)
c.1537A>G (n.1537A>G)
c.1442A>G
c.1124A>G
c.666A>G (p.Ala222=)
c.*1232A>G (n.*1232A>G)
c.354A>G (p.Ala118=)
c.189A>G (p.Ala63=)
c.590A>G
c.1488A>G (p.Ala496=)
c.1479A>G (p.Ala493=)
c.1506A>G (p.Ala502=)
c.1503A>G (p.Ala501=)
c.1485A>G (p.Ala495=)
c.1428A>G (p.Ala476=)
c.1476A>G (p.Ala492=)
c.1482A>G (p.Ala494=)
c.1398A>G (p.Ala466=)
c.1326A>G (p.Ala442=)
c.621A>G (p.Ala207=)
9g.137758007A>TCA467873839EHMT1c.1497A>T (p.Ala499=)
c.1383A>T (p.Ala461=)
c.1404A>T (p.Ala468=)
c.1537A>T (n.1537A>T)
c.1442A>T
c.1124A>T
c.666A>T (p.Ala222=)
c.*1232A>T (n.*1232A>T)
c.354A>T (p.Ala118=)
c.189A>T (p.Ala63=)
c.590A>T
c.1488A>T (p.Ala496=)
c.1479A>T (p.Ala493=)
c.1506A>T (p.Ala502=)
c.1503A>T (p.Ala501=)
c.1485A>T (p.Ala495=)
c.1428A>T (p.Ala476=)
c.1476A>T (p.Ala492=)
c.1482A>T (p.Ala494=)
c.1398A>T (p.Ala466=)
c.1326A>T (p.Ala442=)
c.621A>T (p.Ala207=)
9g.137758008G>ACA375766606EHMT1c.1498G>A (p.Glu500Lys)
c.1384G>A (p.Glu462Lys)
c.1405G>A (p.Glu469Lys)
c.1538G>A (n.1538G>A)
c.1443G>A
c.1125G>A
c.667G>A (p.Glu223Lys)
c.*1233G>A (n.*1233G>A)
c.355G>A (p.Glu119Lys)
c.190G>A (p.Glu64Lys)
c.591G>A
c.1489G>A (p.Glu497Lys)
c.1480G>A (p.Glu494Lys)
c.1507G>A (p.Glu503Lys)
c.1504G>A (p.Glu502Lys)
c.1486G>A (p.Glu496Lys)
c.1429G>A (p.Glu477Lys)
c.1477G>A (p.Glu493Lys)
c.1483G>A (p.Glu495Lys)
c.1399G>A (p.Glu467Lys)
c.1327G>A (p.Glu443Lys)
c.622G>A (p.Glu208Lys)
9g.137758008G>CCA375766601EHMT1c.1498G>C (p.Glu500Gln)
c.1384G>C (p.Glu462Gln)
c.1405G>C (p.Glu469Gln)
c.1538G>C (n.1538G>C)
c.1443G>C
c.1125G>C
c.667G>C (p.Glu223Gln)
c.*1233G>C (n.*1233G>C)
c.355G>C (p.Glu119Gln)
c.190G>C (p.Glu64Gln)
c.591G>C
c.1489G>C (p.Glu497Gln)
c.1480G>C (p.Glu494Gln)
c.1507G>C (p.Glu503Gln)
c.1504G>C (p.Glu502Gln)
c.1486G>C (p.Glu496Gln)
c.1429G>C (p.Glu477Gln)
c.1477G>C (p.Glu493Gln)
c.1483G>C (p.Glu495Gln)
c.1399G>C (p.Glu467Gln)
c.1327G>C (p.Glu443Gln)
c.622G>C (p.Glu208Gln)
9g.137758008G>TCA375766603EHMT1c.1498G>T (p.Glu500Ter)
c.1384G>T (p.Glu462Ter)
c.1405G>T (p.Glu469Ter)
c.1538G>T (n.1538G>T)
c.1443G>T
c.1125G>T
c.667G>T (p.Glu223Ter)
c.*1233G>T (n.*1233G>T)
c.355G>T (p.Glu119Ter)
c.190G>T (p.Glu64Ter)
c.591G>T
c.1489G>T (p.Glu497Ter)
c.1480G>T (p.Glu494Ter)
c.1507G>T (p.Glu503Ter)
c.1504G>T (p.Glu502Ter)
c.1486G>T (p.Glu496Ter)
c.1429G>T (p.Glu477Ter)
c.1477G>T (p.Glu493Ter)
c.1483G>T (p.Glu495Ter)
c.1399G>T (p.Glu467Ter)
c.1327G>T (p.Glu443Ter)
c.622G>T (p.Glu208Ter)
9g.137758009A>CCA375766609EHMT1c.1499A>C (p.Glu500Ala)
c.1385A>C (p.Glu462Ala)
c.1406A>C (p.Glu469Ala)
c.1539A>C (n.1539A>C)
c.1444A>C
c.1126A>C
c.668A>C (p.Glu223Ala)
c.*1234A>C (n.*1234A>C)
c.356A>C (p.Glu119Ala)
c.191A>C (p.Glu64Ala)
c.592A>C
c.1490A>C (p.Glu497Ala)
c.1481A>C (p.Glu494Ala)
c.1508A>C (p.Glu503Ala)
c.1505A>C (p.Glu502Ala)
c.1487A>C (p.Glu496Ala)
c.1430A>C (p.Glu477Ala)
c.1478A>C (p.Glu493Ala)
c.1484A>C (p.Glu495Ala)
c.1400A>C (p.Glu467Ala)
c.1328A>C (p.Glu443Ala)
c.623A>C (p.Glu208Ala)
9g.137758009A>GCA375766612EHMT1c.1499A>G (p.Glu500Gly)
c.1385A>G (p.Glu462Gly)
c.1406A>G (p.Glu469Gly)
c.1539A>G (n.1539A>G)
c.1444A>G
c.1126A>G
c.668A>G (p.Glu223Gly)
c.*1234A>G (n.*1234A>G)
c.356A>G (p.Glu119Gly)
c.191A>G (p.Glu64Gly)
c.592A>G
c.1490A>G (p.Glu497Gly)
c.1481A>G (p.Glu494Gly)
c.1508A>G (p.Glu503Gly)
c.1505A>G (p.Glu502Gly)
c.1487A>G (p.Glu496Gly)
c.1430A>G (p.Glu477Gly)
c.1478A>G (p.Glu493Gly)
c.1484A>G (p.Glu495Gly)
c.1400A>G (p.Glu467Gly)
c.1328A>G (p.Glu443Gly)
c.623A>G (p.Glu208Gly)
 gnomAD v4
9g.137758009A>TCA375766614EHMT1c.1499A>T (p.Glu500Val)
c.1385A>T (p.Glu462Val)
c.1406A>T (p.Glu469Val)
c.1539A>T (n.1539A>T)
c.1444A>T
c.1126A>T
c.668A>T (p.Glu223Val)
c.*1234A>T (n.*1234A>T)
c.356A>T (p.Glu119Val)
c.191A>T (p.Glu64Val)
c.592A>T
c.1490A>T (p.Glu497Val)
c.1481A>T (p.Glu494Val)
c.1508A>T (p.Glu503Val)
c.1505A>T (p.Glu502Val)
c.1487A>T (p.Glu496Val)
c.1430A>T (p.Glu477Val)
c.1478A>T (p.Glu493Val)
c.1484A>T (p.Glu495Val)
c.1400A>T (p.Glu467Val)
c.1328A>T (p.Glu443Val)
c.623A>T (p.Glu208Val)
9g.137758010A>CCA375766625EHMT1c.1500A>C (p.Glu500Asp)
c.1386A>C (p.Glu462Asp)
c.1407A>C (p.Glu469Asp)
c.1540A>C (n.1540A>C)
c.1445A>C
c.1127A>C
c.669A>C (p.Glu223Asp)
c.*1235A>C (n.*1235A>C)
c.357A>C (p.Glu119Asp)
c.192A>C (p.Glu64Asp)
c.593A>C
c.1491A>C (p.Glu497Asp)
c.1482A>C (p.Glu494Asp)
c.1509A>C (p.Glu503Asp)
c.1506A>C (p.Glu502Asp)
c.1488A>C (p.Glu496Asp)
c.1431A>C (p.Glu477Asp)
c.1479A>C (p.Glu493Asp)
c.1485A>C (p.Glu495Asp)
c.1401A>C (p.Glu467Asp)
c.1329A>C (p.Glu443Asp)
c.624A>C (p.Glu208Asp)
9g.137758010A>GCA467873840EHMT1c.1500A>G (p.Glu500=)
c.1386A>G (p.Glu462=)
c.1407A>G (p.Glu469=)
c.1540A>G (n.1540A>G)
c.1445A>G
c.1127A>G
c.669A>G (p.Glu223=)
c.*1235A>G (n.*1235A>G)
c.357A>G (p.Glu119=)
c.192A>G (p.Glu64=)
c.593A>G
c.1491A>G (p.Glu497=)
c.1482A>G (p.Glu494=)
c.1509A>G (p.Glu503=)
c.1506A>G (p.Glu502=)
c.1488A>G (p.Glu496=)
c.1431A>G (p.Glu477=)
c.1479A>G (p.Glu493=)
c.1485A>G (p.Glu495=)
c.1401A>G (p.Glu467=)
c.1329A>G (p.Glu443=)
c.624A>G (p.Glu208=)
9g.137758010A>TCA375766626EHMT1c.1500A>T (p.Glu500Asp)
c.1386A>T (p.Glu462Asp)
c.1407A>T (p.Glu469Asp)
c.1540A>T (n.1540A>T)
c.1445A>T
c.1127A>T
c.669A>T (p.Glu223Asp)
c.*1235A>T (n.*1235A>T)
c.357A>T (p.Glu119Asp)
c.192A>T (p.Glu64Asp)
c.593A>T
c.1491A>T (p.Glu497Asp)
c.1482A>T (p.Glu494Asp)
c.1509A>T (p.Glu503Asp)
c.1506A>T (p.Glu502Asp)
c.1488A>T (p.Glu496Asp)
c.1431A>T (p.Glu477Asp)
c.1479A>T (p.Glu493Asp)
c.1485A>T (p.Glu495Asp)
c.1401A>T (p.Glu467Asp)
c.1329A>T (p.Glu443Asp)
c.624A>T (p.Glu208Asp)
9g.137758011G>ACA375766628EHMT1c.1501G>A (p.Gly501Arg)
c.1387G>A (p.Gly463Arg)
c.1408G>A (p.Gly470Arg)
c.1541G>A (n.1541G>A)
c.1446G>A
c.1128G>A
c.670G>A (p.Gly224Arg)
c.*1236G>A (n.*1236G>A)
c.358G>A (p.Gly120Arg)
c.193G>A (p.Gly65Arg)
c.594G>A
c.1492G>A (p.Gly498Arg)
c.1483G>A (p.Gly495Arg)
c.1510G>A (p.Gly504Arg)
c.1507G>A (p.Gly503Arg)
c.1489G>A (p.Gly497Arg)
c.1432G>A (p.Gly478Arg)
c.1480G>A (p.Gly494Arg)
c.1486G>A (p.Gly496Arg)
c.1402G>A (p.Gly468Arg)
c.1330G>A (p.Gly444Arg)
c.625G>A (p.Gly209Arg)
9g.137758011G>CCA375766630EHMT1c.1501G>C (p.Gly501Arg)
c.1387G>C (p.Gly463Arg)
c.1408G>C (p.Gly470Arg)
c.1541G>C (n.1541G>C)
c.1446G>C
c.1128G>C
c.670G>C (p.Gly224Arg)
c.*1236G>C (n.*1236G>C)
c.358G>C (p.Gly120Arg)
c.193G>C (p.Gly65Arg)
c.594G>C
c.1492G>C (p.Gly498Arg)
c.1483G>C (p.Gly495Arg)
c.1510G>C (p.Gly504Arg)
c.1507G>C (p.Gly503Arg)
c.1489G>C (p.Gly497Arg)
c.1432G>C (p.Gly478Arg)
c.1480G>C (p.Gly494Arg)
c.1486G>C (p.Gly496Arg)
c.1402G>C (p.Gly468Arg)
c.1330G>C (p.Gly444Arg)
c.625G>C (p.Gly209Arg)
9g.137758011G>TCA375766631EHMT1c.1501G>T (p.Gly501Trp)
c.1387G>T (p.Gly463Trp)
c.1408G>T (p.Gly470Trp)
c.1541G>T (n.1541G>T)
c.1446G>T
c.1128G>T
c.670G>T (p.Gly224Trp)
c.*1236G>T (n.*1236G>T)
c.358G>T (p.Gly120Trp)
c.193G>T (p.Gly65Trp)
c.594G>T
c.1492G>T (p.Gly498Trp)
c.1483G>T (p.Gly495Trp)
c.1510G>T (p.Gly504Trp)
c.1507G>T (p.Gly503Trp)
c.1489G>T (p.Gly497Trp)
c.1432G>T (p.Gly478Trp)
c.1480G>T (p.Gly494Trp)
c.1486G>T (p.Gly496Trp)
c.1402G>T (p.Gly468Trp)
c.1330G>T (p.Gly444Trp)
c.625G>T (p.Gly209Trp)
9g.137758012delCA2499219807EHMT1c.1501+1del
c.1387+1del
c.1408+1del
c.1541+1del
c.1446+1del
c.1128+1del
c.670+1del
c.*1236+1del
c.358+1del
c.193+1del
c.594+1del
c.1492+1del
c.1483+1del
c.1510+1del
c.1507+1del
c.1489+1del
c.1432+1del
c.1480+1del
c.1486+1del
c.1402+1del
c.1330+1del
c.625+1del
 ClinVar dbSNP
9g.137758012G>ACA375766633EHMT1c.1501+1G>A (n.1501+1G>A)
c.1387+1G>A (n.1387+1G>A)
c.1408+1G>A (n.1408+1G>A)
c.1541+1G>A (n.1541+1G>A)
c.1446+1G>A
c.1128+1G>A
c.670+1G>A (n.670+1G>A)
c.*1236+1G>A (n.*1236+1G>A)
c.358+1G>A (n.358+1G>A)
c.193+1G>A (n.193+1G>A)
c.594+1G>A
c.1492+1G>A (n.1492+1G>A)
c.1483+1G>A (n.1483+1G>A)
c.1510+1G>A (n.1510+1G>A)
c.1507+1G>A (n.1507+1G>A)
c.1489+1G>A (n.1489+1G>A)
c.1432+1G>A (n.1432+1G>A)
c.1480+1G>A (n.1480+1G>A)
c.1486+1G>A (n.1486+1G>A)
c.1402+1G>A (n.1402+1G>A)
c.1330+1G>A (n.1330+1G>A)
c.625+1G>A (n.625+1G>A)
9g.137758012G>CCA375766635EHMT1c.1501+1G>C (n.1501+1G>C)
c.1387+1G>C (n.1387+1G>C)
c.1408+1G>C (n.1408+1G>C)
c.1541+1G>C (n.1541+1G>C)
c.1446+1G>C
c.1128+1G>C
c.670+1G>C (n.670+1G>C)
c.*1236+1G>C (n.*1236+1G>C)
c.358+1G>C (n.358+1G>C)
c.193+1G>C (n.193+1G>C)
c.594+1G>C
c.1492+1G>C (n.1492+1G>C)
c.1483+1G>C (n.1483+1G>C)
c.1510+1G>C (n.1510+1G>C)
c.1507+1G>C (n.1507+1G>C)
c.1489+1G>C (n.1489+1G>C)
c.1432+1G>C (n.1432+1G>C)
c.1480+1G>C (n.1480+1G>C)
c.1486+1G>C (n.1486+1G>C)
c.1402+1G>C (n.1402+1G>C)
c.1330+1G>C (n.1330+1G>C)
c.625+1G>C (n.625+1G>C)
9g.137758012G>TCA375766638EHMT1c.1501+1G>T (n.1501+1G>T)
c.1387+1G>T (n.1387+1G>T)
c.1408+1G>T (n.1408+1G>T)
c.1541+1G>T (n.1541+1G>T)
c.1446+1G>T
c.1128+1G>T
c.670+1G>T (n.670+1G>T)
c.*1236+1G>T (n.*1236+1G>T)
c.358+1G>T (n.358+1G>T)
c.193+1G>T (n.193+1G>T)
c.594+1G>T
c.1492+1G>T (n.1492+1G>T)
c.1483+1G>T (n.1483+1G>T)
c.1510+1G>T (n.1510+1G>T)
c.1507+1G>T (n.1507+1G>T)
c.1489+1G>T (n.1489+1G>T)
c.1432+1G>T (n.1432+1G>T)
c.1480+1G>T (n.1480+1G>T)
c.1486+1G>T (n.1486+1G>T)
c.1402+1G>T (n.1402+1G>T)
c.1330+1G>T (n.1330+1G>T)
c.625+1G>T (n.625+1G>T)
9g.137758013T>ACA375766644EHMT1c.1501+2T>A (n.1501+2T>A)
c.1387+2T>A (n.1387+2T>A)
c.1408+2T>A (n.1408+2T>A)
c.1541+2T>A (n.1541+2T>A)
c.1446+2T>A
c.1128+2T>A
c.670+2T>A (n.670+2T>A)
c.*1236+2T>A (n.*1236+2T>A)
c.358+2T>A (n.358+2T>A)
c.193+2T>A (n.193+2T>A)
c.594+2T>A
c.1492+2T>A (n.1492+2T>A)
c.1483+2T>A (n.1483+2T>A)
c.1510+2T>A (n.1510+2T>A)
c.1507+2T>A (n.1507+2T>A)
c.1489+2T>A (n.1489+2T>A)
c.1432+2T>A (n.1432+2T>A)
c.1480+2T>A (n.1480+2T>A)
c.1486+2T>A (n.1486+2T>A)
c.1402+2T>A (n.1402+2T>A)
c.1330+2T>A (n.1330+2T>A)
c.625+2T>A (n.625+2T>A)
9g.137758013T>CCA375766641EHMT1c.1501+2T>C (n.1501+2T>C)
c.1387+2T>C (n.1387+2T>C)
c.1408+2T>C (n.1408+2T>C)
c.1541+2T>C (n.1541+2T>C)
c.1446+2T>C
c.1128+2T>C
c.670+2T>C (n.670+2T>C)
c.*1236+2T>C (n.*1236+2T>C)
c.358+2T>C (n.358+2T>C)
c.193+2T>C (n.193+2T>C)
c.594+2T>C
c.1492+2T>C (n.1492+2T>C)
c.1483+2T>C (n.1483+2T>C)
c.1510+2T>C (n.1510+2T>C)
c.1507+2T>C (n.1507+2T>C)
c.1489+2T>C (n.1489+2T>C)
c.1432+2T>C (n.1432+2T>C)
c.1480+2T>C (n.1480+2T>C)
c.1486+2T>C (n.1486+2T>C)
c.1402+2T>C (n.1402+2T>C)
c.1330+2T>C (n.1330+2T>C)
c.625+2T>C (n.625+2T>C)
9g.137758013T>GCA375766642EHMT1c.1501+2T>G (n.1501+2T>G)
c.1387+2T>G (n.1387+2T>G)
c.1408+2T>G (n.1408+2T>G)
c.1541+2T>G (n.1541+2T>G)
c.1446+2T>G
c.1128+2T>G
c.670+2T>G (n.670+2T>G)
c.*1236+2T>G (n.*1236+2T>G)
c.358+2T>G (n.358+2T>G)
c.193+2T>G (n.193+2T>G)
c.594+2T>G
c.1492+2T>G (n.1492+2T>G)
c.1483+2T>G (n.1483+2T>G)
c.1510+2T>G (n.1510+2T>G)
c.1507+2T>G (n.1507+2T>G)
c.1489+2T>G (n.1489+2T>G)
c.1432+2T>G (n.1432+2T>G)
c.1480+2T>G (n.1480+2T>G)
c.1486+2T>G (n.1486+2T>G)
c.1402+2T>G (n.1402+2T>G)
c.1330+2T>G (n.1330+2T>G)
c.625+2T>G (n.625+2T>G)
9g.137758014G>CCA2580080984EHMT1c.1501+3G>C (n.1501+3G>C)
c.1387+3G>C (n.1387+3G>C)
c.1408+3G>C (n.1408+3G>C)
c.1541+3G>C (n.1541+3G>C)
c.1446+3G>C
c.1128+3G>C
c.670+3G>C (n.670+3G>C)
c.*1236+3G>C (n.*1236+3G>C)
c.358+3G>C (n.358+3G>C)
c.193+3G>C (n.193+3G>C)
c.594+3G>C
c.1492+3G>C (n.1492+3G>C)
c.1483+3G>C (n.1483+3G>C)
c.1510+3G>C (n.1510+3G>C)
c.1507+3G>C (n.1507+3G>C)
c.1489+3G>C (n.1489+3G>C)
c.1432+3G>C (n.1432+3G>C)
c.1480+3G>C (n.1480+3G>C)
c.1486+3G>C (n.1486+3G>C)
c.1402+3G>C (n.1402+3G>C)
c.1330+3G>C (n.1330+3G>C)
c.625+3G>C (n.625+3G>C)
 ClinVar
9g.137758016A=CA1884657154EHMT1c.1501+5A= (n.1501+5A=)
c.1387+5A= (n.1387+5A=)
c.1408+5A= (n.1408+5A=)
c.1541+5A= (n.1541+5A=)
c.1446+5A=
c.1128+5A=
c.670+5A= (n.670+5A=)
c.*1236+5A= (n.*1236+5A=)
c.358+5A= (n.358+5A=)
c.193+5A= (n.193+5A=)
c.594+5A=
c.1492+5A= (n.1492+5A=)
c.1483+5A= (n.1483+5A=)
c.1510+5A= (n.1510+5A=)
c.1507+5A= (n.1507+5A=)
c.1489+5A= (n.1489+5A=)
c.1432+5A= (n.1432+5A=)
c.1480+5A= (n.1480+5A=)
c.1486+5A= (n.1486+5A=)
c.1402+5A= (n.1402+5A=)
c.1330+5A= (n.1330+5A=)
c.625+5A= (n.625+5A=)
9g.137758016A>GCA5374633EHMT1c.1501+5A>G (n.1501+5A>G)
c.1387+5A>G (n.1387+5A>G)
c.1408+5A>G (n.1408+5A>G)
c.1541+5A>G (n.1541+5A>G)
c.1446+5A>G
c.1128+5A>G
c.670+5A>G (n.670+5A>G)
c.*1236+5A>G (n.*1236+5A>G)
c.358+5A>G (n.358+5A>G)
c.193+5A>G (n.193+5A>G)
c.594+5A>G
c.1492+5A>G (n.1492+5A>G)
c.1483+5A>G (n.1483+5A>G)
c.1510+5A>G (n.1510+5A>G)
c.1507+5A>G (n.1507+5A>G)
c.1489+5A>G (n.1489+5A>G)
c.1432+5A>G (n.1432+5A>G)
c.1480+5A>G (n.1480+5A>G)
c.1486+5A>G (n.1486+5A>G)
c.1402+5A>G (n.1402+5A>G)
c.1330+5A>G (n.1330+5A>G)
c.625+5A>G (n.625+5A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137758021G>ACA2692881619EHMT1c.1501+10G>A (n.1501+10G>A)
c.1387+10G>A (n.1387+10G>A)
c.1408+10G>A (n.1408+10G>A)
c.1541+10G>A (n.1541+10G>A)
c.1446+10G>A
c.1128+10G>A
c.670+10G>A (n.670+10G>A)
c.*1236+10G>A (n.*1236+10G>A)
c.358+10G>A (n.358+10G>A)
c.193+10G>A (n.193+10G>A)
c.594+10G>A
c.1492+10G>A (n.1492+10G>A)
c.1483+10G>A (n.1483+10G>A)
c.1510+10G>A (n.1510+10G>A)
c.1507+10G>A (n.1507+10G>A)
c.1489+10G>A (n.1489+10G>A)
c.1432+10G>A (n.1432+10G>A)
c.1480+10G>A (n.1480+10G>A)
c.1486+10G>A (n.1486+10G>A)
c.1402+10G>A (n.1402+10G>A)
c.1330+10G>A (n.1330+10G>A)
c.625+10G>A (n.625+10G>A)
 gnomAD v4
9g.137758023G=CA1884657155EHMT1c.1501+12G= (n.1501+12G=)
c.1387+12G= (n.1387+12G=)
c.1408+12G= (n.1408+12G=)
c.1541+12G= (n.1541+12G=)
c.1446+12G=
c.1128+12G=
c.670+12G= (n.670+12G=)
c.*1236+12G= (n.*1236+12G=)
c.358+12G= (n.358+12G=)
c.193+12G= (n.193+12G=)
c.594+12G=
c.1492+12G= (n.1492+12G=)
c.1483+12G= (n.1483+12G=)
c.1510+12G= (n.1510+12G=)
c.1507+12G= (n.1507+12G=)
c.1489+12G= (n.1489+12G=)
c.1432+12G= (n.1432+12G=)
c.1480+12G= (n.1480+12G=)
c.1486+12G= (n.1486+12G=)
c.1402+12G= (n.1402+12G=)
c.1330+12G= (n.1330+12G=)
c.625+12G= (n.625+12G=)
9g.137758023G>TCA5374634EHMT1c.1501+12G>T (n.1501+12G>T)
c.1387+12G>T (n.1387+12G>T)
c.1408+12G>T (n.1408+12G>T)
c.1541+12G>T (n.1541+12G>T)
c.1446+12G>T
c.1128+12G>T
c.670+12G>T (n.670+12G>T)
c.*1236+12G>T (n.*1236+12G>T)
c.358+12G>T (n.358+12G>T)
c.193+12G>T (n.193+12G>T)
c.594+12G>T
c.1492+12G>T (n.1492+12G>T)
c.1483+12G>T (n.1483+12G>T)
c.1510+12G>T (n.1510+12G>T)
c.1507+12G>T (n.1507+12G>T)
c.1489+12G>T (n.1489+12G>T)
c.1432+12G>T (n.1432+12G>T)
c.1480+12G>T (n.1480+12G>T)
c.1486+12G>T (n.1486+12G>T)
c.1402+12G>T (n.1402+12G>T)
c.1330+12G>T (n.1330+12G>T)
c.625+12G>T (n.625+12G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137758024G>ACA1130128062EHMT1c.1501+13G>A (n.1501+13G>A)
c.1387+13G>A (n.1387+13G>A)
c.1408+13G>A (n.1408+13G>A)
c.1541+13G>A (n.1541+13G>A)
c.1446+13G>A
c.1128+13G>A
c.670+13G>A (n.670+13G>A)
c.*1236+13G>A (n.*1236+13G>A)
c.358+13G>A (n.358+13G>A)
c.193+13G>A (n.193+13G>A)
c.594+13G>A
c.1492+13G>A (n.1492+13G>A)
c.1483+13G>A (n.1483+13G>A)
c.1510+13G>A (n.1510+13G>A)
c.1507+13G>A (n.1507+13G>A)
c.1489+13G>A (n.1489+13G>A)
c.1432+13G>A (n.1432+13G>A)
c.1480+13G>A (n.1480+13G>A)
c.1486+13G>A (n.1486+13G>A)
c.1402+13G>A (n.1402+13G>A)
c.1330+13G>A (n.1330+13G>A)
c.625+13G>A (n.625+13G>A)
 dbSNP gnomAD v3 gnomAD v4
9g.137758024G>CCA2580906158EHMT1c.1501+13G>C (n.1501+13G>C)
c.1387+13G>C (n.1387+13G>C)
c.1408+13G>C (n.1408+13G>C)
c.1541+13G>C (n.1541+13G>C)
c.1446+13G>C
c.1128+13G>C
c.670+13G>C (n.670+13G>C)
c.*1236+13G>C (n.*1236+13G>C)
c.358+13G>C (n.358+13G>C)
c.193+13G>C (n.193+13G>C)
c.594+13G>C
c.1492+13G>C (n.1492+13G>C)
c.1483+13G>C (n.1483+13G>C)
c.1510+13G>C (n.1510+13G>C)
c.1507+13G>C (n.1507+13G>C)
c.1489+13G>C (n.1489+13G>C)
c.1432+13G>C (n.1432+13G>C)
c.1480+13G>C (n.1480+13G>C)
c.1486+13G>C (n.1486+13G>C)
c.1402+13G>C (n.1402+13G>C)
c.1330+13G>C (n.1330+13G>C)
c.625+13G>C (n.625+13G>C)
9g.137758024G=CA1884657156EHMT1c.1501+13G= (n.1501+13G=)
c.1387+13G= (n.1387+13G=)
c.1408+13G= (n.1408+13G=)
c.1541+13G= (n.1541+13G=)
c.1446+13G=
c.1128+13G=
c.670+13G= (n.670+13G=)
c.*1236+13G= (n.*1236+13G=)
c.358+13G= (n.358+13G=)
c.193+13G= (n.193+13G=)
c.594+13G=
c.1492+13G= (n.1492+13G=)
c.1483+13G= (n.1483+13G=)
c.1510+13G= (n.1510+13G=)
c.1507+13G= (n.1507+13G=)
c.1489+13G= (n.1489+13G=)
c.1432+13G= (n.1432+13G=)
c.1480+13G= (n.1480+13G=)
c.1486+13G= (n.1486+13G=)
c.1402+13G= (n.1402+13G=)
c.1330+13G= (n.1330+13G=)
c.625+13G= (n.625+13G=)
9g.137758024G>TCA149289EHMT1c.1501+13G>T (n.1501+13G>T)
c.1387+13G>T (n.1387+13G>T)
c.1408+13G>T (n.1408+13G>T)
c.1541+13G>T (n.1541+13G>T)
c.1446+13G>T
c.1128+13G>T
c.670+13G>T (n.670+13G>T)
c.*1236+13G>T (n.*1236+13G>T)
c.358+13G>T (n.358+13G>T)
c.193+13G>T (n.193+13G>T)
c.594+13G>T
c.1492+13G>T (n.1492+13G>T)
c.1483+13G>T (n.1483+13G>T)
c.1510+13G>T (n.1510+13G>T)
c.1507+13G>T (n.1507+13G>T)
c.1489+13G>T (n.1489+13G>T)
c.1432+13G>T (n.1432+13G>T)
c.1480+13G>T (n.1480+13G>T)
c.1486+13G>T (n.1486+13G>T)
c.1402+13G>T (n.1402+13G>T)
c.1330+13G>T (n.1330+13G>T)
c.625+13G>T (n.625+13G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137758026G>ACA5374635EHMT1c.1501+15G>A (n.1501+15G>A)
c.1387+15G>A (n.1387+15G>A)
c.1408+15G>A (n.1408+15G>A)
c.1541+15G>A (n.1541+15G>A)
c.1446+15G>A
c.1128+15G>A
c.670+15G>A (n.670+15G>A)
c.*1236+15G>A (n.*1236+15G>A)
c.358+15G>A (n.358+15G>A)
c.193+15G>A (n.193+15G>A)
c.594+15G>A
c.1492+15G>A (n.1492+15G>A)
c.1483+15G>A (n.1483+15G>A)
c.1510+15G>A (n.1510+15G>A)
c.1507+15G>A (n.1507+15G>A)
c.1489+15G>A (n.1489+15G>A)
c.1432+15G>A (n.1432+15G>A)
c.1480+15G>A (n.1480+15G>A)
c.1486+15G>A (n.1486+15G>A)
c.1402+15G>A (n.1402+15G>A)
c.1330+15G>A (n.1330+15G>A)
c.625+15G>A (n.625+15G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137758026G=CA1884657157EHMT1c.1501+15G= (n.1501+15G=)
c.1387+15G= (n.1387+15G=)
c.1408+15G= (n.1408+15G=)
c.1541+15G= (n.1541+15G=)
c.1446+15G=
c.1128+15G=
c.670+15G= (n.670+15G=)
c.*1236+15G= (n.*1236+15G=)
c.358+15G= (n.358+15G=)
c.193+15G= (n.193+15G=)
c.594+15G=
c.1492+15G= (n.1492+15G=)
c.1483+15G= (n.1483+15G=)
c.1510+15G= (n.1510+15G=)
c.1507+15G= (n.1507+15G=)
c.1489+15G= (n.1489+15G=)
c.1432+15G= (n.1432+15G=)
c.1480+15G= (n.1480+15G=)
c.1486+15G= (n.1486+15G=)
c.1402+15G= (n.1402+15G=)
c.1330+15G= (n.1330+15G=)
c.625+15G= (n.625+15G=)
9g.137758027T>ACA1884657159EHMT1c.1501+16T>A (n.1501+16T>A)
c.1387+16T>A (n.1387+16T>A)
c.1408+16T>A (n.1408+16T>A)
c.1541+16T>A (n.1541+16T>A)
c.1446+16T>A
c.1128+16T>A
c.670+16T>A (n.670+16T>A)
c.*1236+16T>A (n.*1236+16T>A)
c.358+16T>A (n.358+16T>A)
c.193+16T>A (n.193+16T>A)
c.594+16T>A
c.1492+16T>A (n.1492+16T>A)
c.1483+16T>A (n.1483+16T>A)
c.1510+16T>A (n.1510+16T>A)
c.1507+16T>A (n.1507+16T>A)
c.1489+16T>A (n.1489+16T>A)
c.1432+16T>A (n.1432+16T>A)
c.1480+16T>A (n.1480+16T>A)
c.1486+16T>A (n.1486+16T>A)
c.1402+16T>A (n.1402+16T>A)
c.1330+16T>A (n.1330+16T>A)
c.625+16T>A (n.625+16T>A)
 dbSNP
9g.137758027T=CA1884657158EHMT1c.1501+16T= (n.1501+16T=)
c.1387+16T= (n.1387+16T=)
c.1408+16T= (n.1408+16T=)
c.1541+16T= (n.1541+16T=)
c.1446+16T=
c.1128+16T=
c.670+16T= (n.670+16T=)
c.*1236+16T= (n.*1236+16T=)
c.358+16T= (n.358+16T=)
c.193+16T= (n.193+16T=)
c.594+16T=
c.1492+16T= (n.1492+16T=)
c.1483+16T= (n.1483+16T=)
c.1510+16T= (n.1510+16T=)
c.1507+16T= (n.1507+16T=)
c.1489+16T= (n.1489+16T=)
c.1432+16T= (n.1432+16T=)
c.1480+16T= (n.1480+16T=)
c.1486+16T= (n.1486+16T=)
c.1402+16T= (n.1402+16T=)
c.1330+16T= (n.1330+16T=)
c.625+16T= (n.625+16T=)
9g.137758028A=CA1884657160EHMT1c.1501+17A= (n.1501+17A=)
c.1387+17A= (n.1387+17A=)
c.1408+17A= (n.1408+17A=)
c.1541+17A= (n.1541+17A=)
c.1446+17A=
c.1128+17A=
c.670+17A= (n.670+17A=)
c.*1236+17A= (n.*1236+17A=)
c.358+17A= (n.358+17A=)
c.193+17A= (n.193+17A=)
c.594+17A=
c.1492+17A= (n.1492+17A=)
c.1483+17A= (n.1483+17A=)
c.1510+17A= (n.1510+17A=)
c.1507+17A= (n.1507+17A=)
c.1489+17A= (n.1489+17A=)
c.1432+17A= (n.1432+17A=)
c.1480+17A= (n.1480+17A=)
c.1486+17A= (n.1486+17A=)
c.1402+17A= (n.1402+17A=)
c.1330+17A= (n.1330+17A=)
c.625+17A= (n.625+17A=)
9g.137758028A>GCA5374636EHMT1c.1501+17A>G (n.1501+17A>G)
c.1387+17A>G (n.1387+17A>G)
c.1408+17A>G (n.1408+17A>G)
c.1541+17A>G (n.1541+17A>G)
c.1446+17A>G
c.1128+17A>G
c.670+17A>G (n.670+17A>G)
c.*1236+17A>G (n.*1236+17A>G)
c.358+17A>G (n.358+17A>G)
c.193+17A>G (n.193+17A>G)
c.594+17A>G
c.1492+17A>G (n.1492+17A>G)
c.1483+17A>G (n.1483+17A>G)
c.1510+17A>G (n.1510+17A>G)
c.1507+17A>G (n.1507+17A>G)
c.1489+17A>G (n.1489+17A>G)
c.1432+17A>G (n.1432+17A>G)
c.1480+17A>G (n.1480+17A>G)
c.1486+17A>G (n.1486+17A>G)
c.1402+17A>G (n.1402+17A>G)
c.1330+17A>G (n.1330+17A>G)
c.625+17A>G (n.625+17A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137758028_137758029insTCA2533202170EHMT1c.1501+17_1501+18insT (n.1501+17_1501+18insT)
c.1387+17_1387+18insT (n.1387+17_1387+18insT)
c.1408+17_1408+18insT (n.1408+17_1408+18insT)
c.1541+17_1541+18insT (n.1541+17_1541+18insT)
c.1446+17_1446+18insT
c.1128+17_1128+18insT
c.670+17_670+18insT (n.670+17_670+18insT)
c.*1236+17_*1236+18insT (n.*1236+17_*1236+18insT)
c.358+17_358+18insT (n.358+17_358+18insT)
c.193+17_193+18insT (n.193+17_193+18insT)
c.594+17_594+18insT
c.1492+17_1492+18insT (n.1492+17_1492+18insT)
c.1483+17_1483+18insT (n.1483+17_1483+18insT)
c.1510+17_1510+18insT (n.1510+17_1510+18insT)
c.1507+17_1507+18insT (n.1507+17_1507+18insT)
c.1489+17_1489+18insT (n.1489+17_1489+18insT)
c.1432+17_1432+18insT (n.1432+17_1432+18insT)
c.1480+17_1480+18insT (n.1480+17_1480+18insT)
c.1486+17_1486+18insT (n.1486+17_1486+18insT)
c.1402+17_1402+18insT (n.1402+17_1402+18insT)
c.1330+17_1330+18insT (n.1330+17_1330+18insT)
c.625+17_625+18insT (n.625+17_625+18insT)
9g.137758028_137758029insTAAAATTCCCA2560124532EHMT1c.1501+17_1501+18insTAAAATTCC (n.1501+17_1501+18insTAAAATTCC)
c.1387+17_1387+18insTAAAATTCC (n.1387+17_1387+18insTAAAATTCC)
c.1408+17_1408+18insTAAAATTCC (n.1408+17_1408+18insTAAAATTCC)
c.1541+17_1541+18insTAAAATTCC (n.1541+17_1541+18insTAAAATTCC)
c.1446+17_1446+18insTAAAATTCC
c.1128+17_1128+18insTAAAATTCC
c.670+17_670+18insTAAAATTCC (n.670+17_670+18insTAAAATTCC)
c.*1236+17_*1236+18insTAAAATTCC (n.*1236+17_*1236+18insTAAAATTCC)
c.358+17_358+18insTAAAATTCC (n.358+17_358+18insTAAAATTCC)
c.193+17_193+18insTAAAATTCC (n.193+17_193+18insTAAAATTCC)
c.594+17_594+18insTAAAATTCC
c.1492+17_1492+18insTAAAATTCC (n.1492+17_1492+18insTAAAATTCC)
c.1483+17_1483+18insTAAAATTCC (n.1483+17_1483+18insTAAAATTCC)
c.1510+17_1510+18insTAAAATTCC (n.1510+17_1510+18insTAAAATTCC)
c.1507+17_1507+18insTAAAATTCC (n.1507+17_1507+18insTAAAATTCC)
c.1489+17_1489+18insTAAAATTCC (n.1489+17_1489+18insTAAAATTCC)
c.1432+17_1432+18insTAAAATTCC (n.1432+17_1432+18insTAAAATTCC)
c.1480+17_1480+18insTAAAATTCC (n.1480+17_1480+18insTAAAATTCC)
c.1486+17_1486+18insTAAAATTCC (n.1486+17_1486+18insTAAAATTCC)
c.1402+17_1402+18insTAAAATTCC (n.1402+17_1402+18insTAAAATTCC)
c.1330+17_1330+18insTAAAATTCC (n.1330+17_1330+18insTAAAATTCC)
c.625+17_625+18insTAAAATTCC (n.625+17_625+18insTAAAATTCC)
9g.137758028_137758029insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATCA2786318102EHMT1c.1501+17_1501+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT (n.1501+17_1501+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT)
c.1387+17_1387+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT (n.1387+17_1387+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT)
c.1408+17_1408+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT (n.1408+17_1408+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT)
c.1541+17_1541+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT (n.1541+17_1541+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT)
c.1446+17_1446+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT
c.1128+17_1128+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT
c.670+17_670+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT (n.670+17_670+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT)
c.*1236+17_*1236+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT (n.*1236+17_*1236+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT)
c.358+17_358+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT (n.358+17_358+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT)
c.193+17_193+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT (n.193+17_193+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT)
c.594+17_594+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT
c.1492+17_1492+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT (n.1492+17_1492+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT)
c.1483+17_1483+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT (n.1483+17_1483+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT)
c.1510+17_1510+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT (n.1510+17_1510+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT)
c.1507+17_1507+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT (n.1507+17_1507+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT)
c.1489+17_1489+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT (n.1489+17_1489+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT)
c.1432+17_1432+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT (n.1432+17_1432+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT)
c.1480+17_1480+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT (n.1480+17_1480+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT)
c.1486+17_1486+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT (n.1486+17_1486+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT)
c.1402+17_1402+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT (n.1402+17_1402+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT)
c.1330+17_1330+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT (n.1330+17_1330+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT)
c.625+17_625+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT (n.625+17_625+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAAT)
9g.137758028_137758029insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATATCA2741064225EHMT1c.1501+17_1501+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT (n.1501+17_1501+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT)
c.1387+17_1387+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT (n.1387+17_1387+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT)
c.1408+17_1408+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT (n.1408+17_1408+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT)
c.1541+17_1541+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT (n.1541+17_1541+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT)
c.1446+17_1446+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT
c.1128+17_1128+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT
c.670+17_670+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT (n.670+17_670+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT)
c.*1236+17_*1236+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT (n.*1236+17_*1236+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT)
c.358+17_358+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT (n.358+17_358+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT)
c.193+17_193+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT (n.193+17_193+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT)
c.594+17_594+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT
c.1492+17_1492+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT (n.1492+17_1492+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT)
c.1483+17_1483+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT (n.1483+17_1483+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT)
c.1510+17_1510+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT (n.1510+17_1510+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT)
c.1507+17_1507+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT (n.1507+17_1507+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT)
c.1489+17_1489+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT (n.1489+17_1489+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT)
c.1432+17_1432+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT (n.1432+17_1432+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT)
c.1480+17_1480+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT (n.1480+17_1480+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT)
c.1486+17_1486+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT (n.1486+17_1486+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT)
c.1402+17_1402+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT (n.1402+17_1402+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT)
c.1330+17_1330+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT (n.1330+17_1330+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT)
c.625+17_625+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT (n.625+17_625+18insTAAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGCAGGGCATATATTCTCTTATGATGAGCCTCAAACCCCTAATATAT)
9g.137758029_137758030insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCTCA2531015962EHMT1c.1501+18_1501+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT (n.1501+18_1501+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT)
c.1387+18_1387+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT (n.1387+18_1387+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT)
c.1408+18_1408+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT (n.1408+18_1408+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT)
c.1541+18_1541+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT (n.1541+18_1541+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT)
c.1446+18_1446+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT
c.1128+18_1128+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT
c.670+18_670+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT (n.670+18_670+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT)
c.*1236+18_*1236+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT (n.*1236+18_*1236+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT)
c.358+18_358+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT (n.358+18_358+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT)
c.193+18_193+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT (n.193+18_193+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT)
c.594+18_594+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT
c.1492+18_1492+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT (n.1492+18_1492+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT)
c.1483+18_1483+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT (n.1483+18_1483+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT)
c.1510+18_1510+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT (n.1510+18_1510+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT)
c.1507+18_1507+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT (n.1507+18_1507+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT)
c.1489+18_1489+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT (n.1489+18_1489+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT)
c.1432+18_1432+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT (n.1432+18_1432+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT)
c.1480+18_1480+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT (n.1480+18_1480+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT)
c.1486+18_1486+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT (n.1486+18_1486+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT)
c.1402+18_1402+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT (n.1402+18_1402+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT)
c.1330+18_1330+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT (n.1330+18_1330+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT)
c.625+18_625+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT (n.625+18_625+19insAAATTCCACATAATTCTACGCGTATGCGGGTGTGGGTCACAGCTAAACGGCTATAAATATGAGCAGGGATACGTTGAGTGGGGCATATATTCT)
9g.137758030C=CA1884657161EHMT1c.1501+19C= (n.1501+19C=)
c.1387+19C= (n.1387+19C=)
c.1408+19C= (n.1408+19C=)
c.1541+19C= (n.1541+19C=)
c.1446+19C=
c.1128+19C=
c.670+19C= (n.670+19C=)
c.*1236+19C= (n.*1236+19C=)
c.358+19C= (n.358+19C=)
c.193+19C= (n.193+19C=)
c.594+19C=
c.1492+19C= (n.1492+19C=)
c.1483+19C= (n.1483+19C=)
c.1510+19C= (n.1510+19C=)
c.1507+19C= (n.1507+19C=)
c.1489+19C= (n.1489+19C=)
c.1432+19C= (n.1432+19C=)
c.1480+19C= (n.1480+19C=)
c.1486+19C= (n.1486+19C=)
c.1402+19C= (n.1402+19C=)
c.1330+19C= (n.1330+19C=)
c.625+19C= (n.625+19C=)
9g.137758030C>GCA2692881620EHMT1c.1501+19C>G (n.1501+19C>G)
c.1387+19C>G (n.1387+19C>G)
c.1408+19C>G (n.1408+19C>G)
c.1541+19C>G (n.1541+19C>G)
c.1446+19C>G
c.1128+19C>G
c.670+19C>G (n.670+19C>G)
c.*1236+19C>G (n.*1236+19C>G)
c.358+19C>G (n.358+19C>G)
c.193+19C>G (n.193+19C>G)
c.594+19C>G
c.1492+19C>G (n.1492+19C>G)
c.1483+19C>G (n.1483+19C>G)
c.1510+19C>G (n.1510+19C>G)
c.1507+19C>G (n.1507+19C>G)
c.1489+19C>G (n.1489+19C>G)
c.1432+19C>G (n.1432+19C>G)
c.1480+19C>G (n.1480+19C>G)
c.1486+19C>G (n.1486+19C>G)
c.1402+19C>G (n.1402+19C>G)
c.1330+19C>G (n.1330+19C>G)
c.625+19C>G (n.625+19C>G)
 gnomAD v4
9g.137758030C>TCA591239815EHMT1c.1501+19C>T (n.1501+19C>T)
c.1387+19C>T (n.1387+19C>T)
c.1408+19C>T (n.1408+19C>T)
c.1541+19C>T (n.1541+19C>T)
c.1446+19C>T
c.1128+19C>T
c.670+19C>T (n.670+19C>T)
c.*1236+19C>T (n.*1236+19C>T)
c.358+19C>T (n.358+19C>T)
c.193+19C>T (n.193+19C>T)
c.594+19C>T
c.1492+19C>T (n.1492+19C>T)
c.1483+19C>T (n.1483+19C>T)
c.1510+19C>T (n.1510+19C>T)
c.1507+19C>T (n.1507+19C>T)
c.1489+19C>T (n.1489+19C>T)
c.1432+19C>T (n.1432+19C>T)
c.1480+19C>T (n.1480+19C>T)
c.1486+19C>T (n.1486+19C>T)
c.1402+19C>T (n.1402+19C>T)
c.1330+19C>T (n.1330+19C>T)
c.625+19C>T (n.625+19C>T)
 dbSNP gnomAD v2 gnomAD v4
9g.137758031T>ACA2510525410EHMT1c.1501+20T>A (n.1501+20T>A)
c.1387+20T>A (n.1387+20T>A)
c.1408+20T>A (n.1408+20T>A)
c.1541+20T>A (n.1541+20T>A)
c.1446+20T>A
c.1128+20T>A
c.670+20T>A (n.670+20T>A)
c.*1236+20T>A (n.*1236+20T>A)
c.358+20T>A (n.358+20T>A)
c.193+20T>A (n.193+20T>A)
c.594+20T>A
c.1492+20T>A (n.1492+20T>A)
c.1483+20T>A (n.1483+20T>A)
c.1510+20T>A (n.1510+20T>A)
c.1507+20T>A (n.1507+20T>A)
c.1489+20T>A (n.1489+20T>A)
c.1432+20T>A (n.1432+20T>A)
c.1480+20T>A (n.1480+20T>A)
c.1486+20T>A (n.1486+20T>A)
c.1402+20T>A (n.1402+20T>A)
c.1330+20T>A (n.1330+20T>A)
c.625+20T>A (n.625+20T>A)
9g.137758031_137758032delCA2692881621EHMT1c.1501+20_1501+21del (n.1501+20_1501+21del)
c.1387+20_1387+21del (n.1387+20_1387+21del)
c.1408+20_1408+21del (n.1408+20_1408+21del)
c.1541+20_1541+21del (n.1541+20_1541+21del)
c.1446+20_1446+21del
c.1128+20_1128+21del
c.670+20_670+21del (n.670+20_670+21del)
c.*1236+20_*1236+21del (n.*1236+20_*1236+21del)
c.358+20_358+21del (n.358+20_358+21del)
c.193+20_193+21del (n.193+20_193+21del)
c.594+20_594+21del
c.1492+20_1492+21del (n.1492+20_1492+21del)
c.1483+20_1483+21del (n.1483+20_1483+21del)
c.1510+20_1510+21del (n.1510+20_1510+21del)
c.1507+20_1507+21del (n.1507+20_1507+21del)
c.1489+20_1489+21del (n.1489+20_1489+21del)
c.1432+20_1432+21del (n.1432+20_1432+21del)
c.1480+20_1480+21del (n.1480+20_1480+21del)
c.1486+20_1486+21del (n.1486+20_1486+21del)
c.1402+20_1402+21del (n.1402+20_1402+21del)
c.1330+20_1330+21del (n.1330+20_1330+21del)
c.625+20_625+21del (n.625+20_625+21del)
 gnomAD v4

Number of alleles fetched