Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.137757918C>A | CA375765848 | EHMT1 | c.1408C>A (p.Gln470Lys) c.1294C>A (p.Gln432Lys) c.1315C>A (p.Gln439Lys) c.1448C>A (n.1448C>A) c.1353C>A c.1035C>A c.577C>A (p.Gln193Lys) c.*1143C>A (n.*1143C>A) c.265C>A (p.Gln89Lys) c.100C>A (p.Gln34Lys) c.501C>A c.1399C>A (p.Gln467Lys) c.1390C>A (p.Gln464Lys) c.1417C>A (p.Gln473Lys) c.1414C>A (p.Gln472Lys) c.1396C>A (p.Gln466Lys) c.1339C>A (p.Gln447Lys) c.1387C>A (p.Gln463Lys) c.1393C>A (p.Gln465Lys) c.1309C>A (p.Gln437Lys) c.1237C>A (p.Gln413Lys) c.532C>A (p.Gln178Lys) | |
9 | g.137757918C>G | CA375765849 | EHMT1 | c.1408C>G (p.Gln470Glu) c.1294C>G (p.Gln432Glu) c.1315C>G (p.Gln439Glu) c.1448C>G (n.1448C>G) c.1353C>G c.1035C>G c.577C>G (p.Gln193Glu) c.*1143C>G (n.*1143C>G) c.265C>G (p.Gln89Glu) c.100C>G (p.Gln34Glu) c.501C>G c.1399C>G (p.Gln467Glu) c.1390C>G (p.Gln464Glu) c.1417C>G (p.Gln473Glu) c.1414C>G (p.Gln472Glu) c.1396C>G (p.Gln466Glu) c.1339C>G (p.Gln447Glu) c.1387C>G (p.Gln463Glu) c.1393C>G (p.Gln465Glu) c.1309C>G (p.Gln437Glu) c.1237C>G (p.Gln413Glu) c.532C>G (p.Gln178Glu) | |
9 | g.137757918C>T | CA375765850 | EHMT1 | c.1408C>T (p.Gln470Ter) c.1294C>T (p.Gln432Ter) c.1315C>T (p.Gln439Ter) c.1448C>T (n.1448C>T) c.1353C>T c.1035C>T c.577C>T (p.Gln193Ter) c.*1143C>T (n.*1143C>T) c.265C>T (p.Gln89Ter) c.100C>T (p.Gln34Ter) c.501C>T c.1399C>T (p.Gln467Ter) c.1390C>T (p.Gln464Ter) c.1417C>T (p.Gln473Ter) c.1414C>T (p.Gln472Ter) c.1396C>T (p.Gln466Ter) c.1339C>T (p.Gln447Ter) c.1387C>T (p.Gln463Ter) c.1393C>T (p.Gln465Ter) c.1309C>T (p.Gln437Ter) c.1237C>T (p.Gln413Ter) c.532C>T (p.Gln178Ter) | ClinVar dbSNP |
9 | g.137757918_137757931delinsCAGACGGCACCAGG | CA1884657117 | EHMT1 | c.1408_1421delinsCAGACGGCACCAGG (p.Gln470=) c.1294_1307delinsCAGACGGCACCAGG (p.Gln432=) c.1315_1328delinsCAGACGGCACCAGG (p.Gln439=) c.1448_1461delinsCAGACGGCACCAGG (n.1448_1461delinsCAGACGGCACCAGG) c.1353_1366delinsCAGACGGCACCAGG c.1035_1048delinsCAGACGGCACCAGG c.577_590delinsCAGACGGCACCAGG (p.Gln193=) c.*1143_*1156delinsCAGACGGCACCAGG (n.*1143_*1156delinsCAGACGGCACCAGG) c.265_278delinsCAGACGGCACCAGG (p.Gln89=) c.100_113delinsCAGACGGCACCAGG (p.Gln34=) c.501_514delinsCAGACGGCACCAGG c.1399_1412delinsCAGACGGCACCAGG (p.Gln467=) c.1390_1403delinsCAGACGGCACCAGG (p.Gln464=) c.1417_1430delinsCAGACGGCACCAGG (p.Gln473=) c.1414_1427delinsCAGACGGCACCAGG (p.Gln472=) c.1396_1409delinsCAGACGGCACCAGG (p.Gln466=) c.1339_1352delinsCAGACGGCACCAGG (p.Gln447=) c.1387_1400delinsCAGACGGCACCAGG (p.Gln463=) c.1393_1406delinsCAGACGGCACCAGG (p.Gln465=) c.1309_1322delinsCAGACGGCACCAGG (p.Gln437=) c.1237_1250delinsCAGACGGCACCAGG (p.Gln413=) c.532_545delinsCAGACGGCACCAGG (p.Gln178=) | |
9 | g.137757919A>C | CA375765859 | EHMT1 | c.1409A>C (p.Gln470Pro) c.1295A>C (p.Gln432Pro) c.1316A>C (p.Gln439Pro) c.1449A>C (n.1449A>C) c.1354A>C c.1036A>C c.578A>C (p.Gln193Pro) c.*1144A>C (n.*1144A>C) c.266A>C (p.Gln89Pro) c.101A>C (p.Gln34Pro) c.502A>C c.1400A>C (p.Gln467Pro) c.1391A>C (p.Gln464Pro) c.1418A>C (p.Gln473Pro) c.1415A>C (p.Gln472Pro) c.1397A>C (p.Gln466Pro) c.1340A>C (p.Gln447Pro) c.1388A>C (p.Gln463Pro) c.1394A>C (p.Gln465Pro) c.1310A>C (p.Gln437Pro) c.1238A>C (p.Gln413Pro) c.533A>C (p.Gln178Pro) | |
9 | g.137757919A>G | CA375765852 | EHMT1 | c.1409A>G (p.Gln470Arg) c.1295A>G (p.Gln432Arg) c.1316A>G (p.Gln439Arg) c.1449A>G (n.1449A>G) c.1354A>G c.1036A>G c.578A>G (p.Gln193Arg) c.*1144A>G (n.*1144A>G) c.266A>G (p.Gln89Arg) c.101A>G (p.Gln34Arg) c.502A>G c.1400A>G (p.Gln467Arg) c.1391A>G (p.Gln464Arg) c.1418A>G (p.Gln473Arg) c.1415A>G (p.Gln472Arg) c.1397A>G (p.Gln466Arg) c.1340A>G (p.Gln447Arg) c.1388A>G (p.Gln463Arg) c.1394A>G (p.Gln465Arg) c.1310A>G (p.Gln437Arg) c.1238A>G (p.Gln413Arg) c.533A>G (p.Gln178Arg) | ClinVar |
9 | g.137757919A>T | CA375765857 | EHMT1 | c.1409A>T (p.Gln470Leu) c.1295A>T (p.Gln432Leu) c.1316A>T (p.Gln439Leu) c.1449A>T (n.1449A>T) c.1354A>T c.1036A>T c.578A>T (p.Gln193Leu) c.*1144A>T (n.*1144A>T) c.266A>T (p.Gln89Leu) c.101A>T (p.Gln34Leu) c.502A>T c.1400A>T (p.Gln467Leu) c.1391A>T (p.Gln464Leu) c.1418A>T (p.Gln473Leu) c.1415A>T (p.Gln472Leu) c.1397A>T (p.Gln466Leu) c.1340A>T (p.Gln447Leu) c.1388A>T (p.Gln463Leu) c.1394A>T (p.Gln465Leu) c.1310A>T (p.Gln437Leu) c.1238A>T (p.Gln413Leu) c.533A>T (p.Gln178Leu) | |
9 | g.137757923_137757935del | CA340100 | EHMT1 | c.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 |
9 | g.137757920G>A | CA467873775 | EHMT1 | c.1410G>A (p.Gln470=) c.1296G>A (p.Gln432=) c.1317G>A (p.Gln439=) c.1450G>A (n.1450G>A) c.1355G>A c.1037G>A c.579G>A (p.Gln193=) c.*1145G>A (n.*1145G>A) c.267G>A (p.Gln89=) c.102G>A (p.Gln34=) c.503G>A c.1401G>A (p.Gln467=) c.1392G>A (p.Gln464=) c.1419G>A (p.Gln473=) c.1416G>A (p.Gln472=) c.1398G>A (p.Gln466=) c.1341G>A (p.Gln447=) c.1389G>A (p.Gln463=) c.1395G>A (p.Gln465=) c.1311G>A (p.Gln437=) c.1239G>A (p.Gln413=) c.534G>A (p.Gln178=) | |
9 | g.137757920G>C | CA375765862 | EHMT1 | c.1410G>C (p.Gln470His) c.1296G>C (p.Gln432His) c.1317G>C (p.Gln439His) c.1450G>C (n.1450G>C) c.1355G>C c.1037G>C c.579G>C (p.Gln193His) c.*1145G>C (n.*1145G>C) c.267G>C (p.Gln89His) c.102G>C (p.Gln34His) c.503G>C c.1401G>C (p.Gln467His) c.1392G>C (p.Gln464His) c.1419G>C (p.Gln473His) c.1416G>C (p.Gln472His) c.1398G>C (p.Gln466His) c.1341G>C (p.Gln447His) c.1389G>C (p.Gln463His) c.1395G>C (p.Gln465His) c.1311G>C (p.Gln437His) c.1239G>C (p.Gln413His) c.534G>C (p.Gln178His) | |
9 | g.137757920G= | CA1884657118 | EHMT1 | c.1410G= (p.Gln470=) c.1296G= (p.Gln432=) c.1317G= (p.Gln439=) c.1450G= (n.1450G=) c.1355G= c.1037G= c.579G= (p.Gln193=) c.*1145G= (n.*1145G=) c.267G= (p.Gln89=) c.102G= (p.Gln34=) c.503G= c.1401G= (p.Gln467=) c.1392G= (p.Gln464=) c.1419G= (p.Gln473=) c.1416G= (p.Gln472=) c.1398G= (p.Gln466=) c.1341G= (p.Gln447=) c.1389G= (p.Gln463=) c.1395G= (p.Gln465=) c.1311G= (p.Gln437=) c.1239G= (p.Gln413=) c.534G= (p.Gln178=) | |
9 | g.137757920G>T | CA5374616 | EHMT1 | c.1410G>T (p.Gln470His) c.1296G>T (p.Gln432His) c.1317G>T (p.Gln439His) c.1450G>T (n.1450G>T) c.1355G>T c.1037G>T c.579G>T (p.Gln193His) c.*1145G>T (n.*1145G>T) c.267G>T (p.Gln89His) c.102G>T (p.Gln34His) c.503G>T c.1401G>T (p.Gln467His) c.1392G>T (p.Gln464His) c.1419G>T (p.Gln473His) c.1416G>T (p.Gln472His) c.1398G>T (p.Gln466His) c.1341G>T (p.Gln447His) c.1389G>T (p.Gln463His) c.1395G>T (p.Gln465His) c.1311G>T (p.Gln437His) c.1239G>T (p.Gln413His) c.534G>T (p.Gln178His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.137757921A= | CA1884657119 | EHMT1 | c.1411A= (p.Thr471=) c.1297A= (p.Thr433=) c.1318A= (p.Thr440=) c.1451A= (n.1451A=) c.1356A= c.1038A= c.580A= (p.Thr194=) c.*1146A= (n.*1146A=) c.268A= (p.Thr90=) c.103A= (p.Thr35=) c.504A= c.1402A= (p.Thr468=) c.1393A= (p.Thr465=) c.1420A= (p.Thr474=) c.1417A= (p.Thr473=) c.1399A= (p.Thr467=) c.1342A= (p.Thr448=) c.1390A= (p.Thr464=) c.1396A= (p.Thr466=) c.1312A= (p.Thr438=) c.1240A= (p.Thr414=) c.535A= (p.Thr179=) | |
9 | g.137757921A>C | CA375765864 | EHMT1 | c.1411A>C (p.Thr471Pro) c.1297A>C (p.Thr433Pro) c.1318A>C (p.Thr440Pro) c.1451A>C (n.1451A>C) c.1356A>C c.1038A>C c.580A>C (p.Thr194Pro) c.*1146A>C (n.*1146A>C) c.268A>C (p.Thr90Pro) c.103A>C (p.Thr35Pro) c.504A>C c.1402A>C (p.Thr468Pro) c.1393A>C (p.Thr465Pro) c.1420A>C (p.Thr474Pro) c.1417A>C (p.Thr473Pro) c.1399A>C (p.Thr467Pro) c.1342A>C (p.Thr448Pro) c.1390A>C (p.Thr464Pro) c.1396A>C (p.Thr466Pro) c.1312A>C (p.Thr438Pro) c.1240A>C (p.Thr414Pro) c.535A>C (p.Thr179Pro) | |
9 | g.137757921A>G | CA375765865 | EHMT1 | c.1411A>G (p.Thr471Ala) c.1297A>G (p.Thr433Ala) c.1318A>G (p.Thr440Ala) c.1451A>G (n.1451A>G) c.1356A>G c.1038A>G c.580A>G (p.Thr194Ala) c.*1146A>G (n.*1146A>G) c.268A>G (p.Thr90Ala) c.103A>G (p.Thr35Ala) c.504A>G c.1402A>G (p.Thr468Ala) c.1393A>G (p.Thr465Ala) c.1420A>G (p.Thr474Ala) c.1417A>G (p.Thr473Ala) c.1399A>G (p.Thr467Ala) c.1342A>G (p.Thr448Ala) c.1390A>G (p.Thr464Ala) c.1396A>G (p.Thr466Ala) c.1312A>G (p.Thr438Ala) c.1240A>G (p.Thr414Ala) c.535A>G (p.Thr179Ala) | dbSNP |
9 | g.137757921A>T | CA5374617 | EHMT1 | c.1411A>T (p.Thr471Ser) c.1297A>T (p.Thr433Ser) c.1318A>T (p.Thr440Ser) c.1451A>T (n.1451A>T) c.1356A>T c.1038A>T c.580A>T (p.Thr194Ser) c.*1146A>T (n.*1146A>T) c.268A>T (p.Thr90Ser) c.103A>T (p.Thr35Ser) c.504A>T c.1402A>T (p.Thr468Ser) c.1393A>T (p.Thr465Ser) c.1420A>T (p.Thr474Ser) c.1417A>T (p.Thr473Ser) c.1399A>T (p.Thr467Ser) c.1342A>T (p.Thr448Ser) c.1390A>T (p.Thr464Ser) c.1396A>T (p.Thr466Ser) c.1312A>T (p.Thr438Ser) c.1240A>T (p.Thr414Ser) c.535A>T (p.Thr179Ser) | dbSNP ExAC gnomAD v2 |
9 | g.137757922C>A | CA375765890 | EHMT1 | c.1412C>A (p.Thr471Lys) c.1298C>A (p.Thr433Lys) c.1319C>A (p.Thr440Lys) c.1452C>A (n.1452C>A) c.1357C>A c.1039C>A c.581C>A (p.Thr194Lys) c.*1147C>A (n.*1147C>A) c.269C>A (p.Thr90Lys) c.104C>A (p.Thr35Lys) c.505C>A c.1403C>A (p.Thr468Lys) c.1394C>A (p.Thr465Lys) c.1421C>A (p.Thr474Lys) c.1418C>A (p.Thr473Lys) c.1400C>A (p.Thr467Lys) c.1343C>A (p.Thr448Lys) c.1391C>A (p.Thr464Lys) c.1397C>A (p.Thr466Lys) c.1313C>A (p.Thr438Lys) c.1241C>A (p.Thr414Lys) c.536C>A (p.Thr179Lys) | |
9 | g.137757922C= | CA1884657120 | EHMT1 | c.1412C= (p.Thr471=) c.1298C= (p.Thr433=) c.1319C= (p.Thr440=) c.1452C= (n.1452C=) c.1357C= c.1039C= c.581C= (p.Thr194=) c.*1147C= (n.*1147C=) c.269C= (p.Thr90=) c.104C= (p.Thr35=) c.505C= c.1403C= (p.Thr468=) c.1394C= (p.Thr465=) c.1421C= (p.Thr474=) c.1418C= (p.Thr473=) c.1400C= (p.Thr467=) c.1343C= (p.Thr448=) c.1391C= (p.Thr464=) c.1397C= (p.Thr466=) c.1313C= (p.Thr438=) c.1241C= (p.Thr414=) c.536C= (p.Thr179=) | |
9 | g.137757922C>G | CA375765887 | EHMT1 | c.1412C>G (p.Thr471Arg) c.1298C>G (p.Thr433Arg) c.1319C>G (p.Thr440Arg) c.1452C>G (n.1452C>G) c.1357C>G c.1039C>G c.581C>G (p.Thr194Arg) c.*1147C>G (n.*1147C>G) c.269C>G (p.Thr90Arg) c.104C>G (p.Thr35Arg) c.505C>G c.1403C>G (p.Thr468Arg) c.1394C>G (p.Thr465Arg) c.1421C>G (p.Thr474Arg) c.1418C>G (p.Thr473Arg) c.1400C>G (p.Thr467Arg) c.1343C>G (p.Thr448Arg) c.1391C>G (p.Thr464Arg) c.1397C>G (p.Thr466Arg) c.1313C>G (p.Thr438Arg) c.1241C>G (p.Thr414Arg) c.536C>G (p.Thr179Arg) | |
9 | g.137757922C>T | CA5374618 | EHMT1 | c.1412C>T (p.Thr471Met) c.1298C>T (p.Thr433Met) c.1319C>T (p.Thr440Met) c.1452C>T (n.1452C>T) c.1357C>T c.1039C>T c.581C>T (p.Thr194Met) c.*1147C>T (n.*1147C>T) c.269C>T (p.Thr90Met) c.104C>T (p.Thr35Met) c.505C>T c.1403C>T (p.Thr468Met) c.1394C>T (p.Thr465Met) c.1421C>T (p.Thr474Met) c.1418C>T (p.Thr473Met) c.1400C>T (p.Thr467Met) c.1343C>T (p.Thr448Met) c.1391C>T (p.Thr464Met) c.1397C>T (p.Thr466Met) c.1313C>T (p.Thr438Met) c.1241C>T (p.Thr414Met) c.536C>T (p.Thr179Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137757923G>A | CA5374619 | EHMT1 | c.1413G>A (p.Thr471=) c.1299G>A (p.Thr433=) c.1320G>A (p.Thr440=) c.1453G>A (n.1453G>A) c.1358G>A c.1040G>A c.582G>A (p.Thr194=) c.*1148G>A (n.*1148G>A) c.270G>A (p.Thr90=) c.105G>A (p.Thr35=) c.506G>A c.1404G>A (p.Thr468=) c.1395G>A (p.Thr465=) c.1422G>A (p.Thr474=) c.1419G>A (p.Thr473=) c.1401G>A (p.Thr467=) c.1344G>A (p.Thr448=) c.1392G>A (p.Thr464=) c.1398G>A (p.Thr466=) c.1314G>A (p.Thr438=) c.1242G>A (p.Thr414=) c.537G>A (p.Thr179=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.137757923G>C | CA467873777 | EHMT1 | c.1413G>C (p.Thr471=) c.1299G>C (p.Thr433=) c.1320G>C (p.Thr440=) c.1453G>C (n.1453G>C) c.1358G>C c.1040G>C c.582G>C (p.Thr194=) c.*1148G>C (n.*1148G>C) c.270G>C (p.Thr90=) c.105G>C (p.Thr35=) c.506G>C c.1404G>C (p.Thr468=) c.1395G>C (p.Thr465=) c.1422G>C (p.Thr474=) c.1419G>C (p.Thr473=) c.1401G>C (p.Thr467=) c.1344G>C (p.Thr448=) c.1392G>C (p.Thr464=) c.1398G>C (p.Thr466=) c.1314G>C (p.Thr438=) c.1242G>C (p.Thr414=) c.537G>C (p.Thr179=) | |
9 | g.137757923G= | CA1884657121 | EHMT1 | c.1413G= (p.Thr471=) c.1299G= (p.Thr433=) c.1320G= (p.Thr440=) c.1453G= (n.1453G=) c.1358G= c.1040G= c.582G= (p.Thr194=) c.*1148G= (n.*1148G=) c.270G= (p.Thr90=) c.105G= (p.Thr35=) c.506G= c.1404G= (p.Thr468=) c.1395G= (p.Thr465=) c.1422G= (p.Thr474=) c.1419G= (p.Thr473=) c.1401G= (p.Thr467=) c.1344G= (p.Thr448=) c.1392G= (p.Thr464=) c.1398G= (p.Thr466=) c.1314G= (p.Thr438=) c.1242G= (p.Thr414=) c.537G= (p.Thr179=) | |
9 | g.137757923G>T | CA467873776 | EHMT1 | c.1413G>T (p.Thr471=) c.1299G>T (p.Thr433=) c.1320G>T (p.Thr440=) c.1453G>T (n.1453G>T) c.1358G>T c.1040G>T c.582G>T (p.Thr194=) c.*1148G>T (n.*1148G>T) c.270G>T (p.Thr90=) c.105G>T (p.Thr35=) c.506G>T c.1404G>T (p.Thr468=) c.1395G>T (p.Thr465=) c.1422G>T (p.Thr474=) c.1419G>T (p.Thr473=) c.1401G>T (p.Thr467=) c.1344G>T (p.Thr448=) c.1392G>T (p.Thr464=) c.1398G>T (p.Thr466=) c.1314G>T (p.Thr438=) c.1242G>T (p.Thr414=) c.537G>T (p.Thr179=) | |
9 | g.137757924dup | CA2692881617 | EHMT1 | c.1414dup (p.Ala472GlyfsTer?) c.1300dup (p.Ala434GlyfsTer?) c.1321dup (p.Ala441GlyfsTer?) c.1454dup (n.1454dup) c.1359dup c.1041dup c.583dup (p.Ala195GlyfsTer?) c.*1149dup (n.*1149dup) c.271dup (p.Ala91GlyfsTer?) c.106dup (p.Ala36GlyfsTer?) c.507dup c.1405dup (p.Ala469GlyfsTer?) c.1396dup (p.Ala466GlyfsTer?) c.1423dup (p.Ala475GlyfsTer?) c.1420dup (p.Ala474GlyfsTer?) c.1402dup (p.Ala468GlyfsTer?) c.1345dup (p.Ala449GlyfsTer?) c.1393dup (p.Ala465GlyfsTer?) c.1399dup (p.Ala467GlyfsTer?) c.1315dup (p.Ala439GlyfsTer?) c.1243dup (p.Ala415GlyfsTer?) c.538dup (p.Ala180GlyfsTer?) | gnomAD v4 |
9 | g.137757924G>A | CA201787766 | EHMT1 | c.1414G>A (p.Ala472Thr) c.1300G>A (p.Ala434Thr) c.1321G>A (p.Ala441Thr) c.1454G>A (n.1454G>A) c.1359G>A c.1041G>A c.583G>A (p.Ala195Thr) c.*1149G>A (n.*1149G>A) c.271G>A (p.Ala91Thr) c.106G>A (p.Ala36Thr) c.507G>A c.1405G>A (p.Ala469Thr) c.1396G>A (p.Ala466Thr) c.1423G>A (p.Ala475Thr) c.1420G>A (p.Ala474Thr) c.1402G>A (p.Ala468Thr) c.1345G>A (p.Ala449Thr) c.1393G>A (p.Ala465Thr) c.1399G>A (p.Ala467Thr) c.1315G>A (p.Ala439Thr) c.1243G>A (p.Ala415Thr) c.538G>A (p.Ala180Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137757924G>C | CA375765899 | EHMT1 | c.1414G>C (p.Ala472Pro) c.1300G>C (p.Ala434Pro) c.1321G>C (p.Ala441Pro) c.1454G>C (n.1454G>C) c.1359G>C c.1041G>C c.583G>C (p.Ala195Pro) c.*1149G>C (n.*1149G>C) c.271G>C (p.Ala91Pro) c.106G>C (p.Ala36Pro) c.507G>C c.1405G>C (p.Ala469Pro) c.1396G>C (p.Ala466Pro) c.1423G>C (p.Ala475Pro) c.1420G>C (p.Ala474Pro) c.1402G>C (p.Ala468Pro) c.1345G>C (p.Ala449Pro) c.1393G>C (p.Ala465Pro) c.1399G>C (p.Ala467Pro) c.1315G>C (p.Ala439Pro) c.1243G>C (p.Ala415Pro) c.538G>C (p.Ala180Pro) | |
9 | g.137757924G= | CA1884657122 | EHMT1 | c.1414G= (p.Ala472=) c.1300G= (p.Ala434=) c.1321G= (p.Ala441=) c.1454G= (n.1454G=) c.1359G= c.1041G= c.583G= (p.Ala195=) c.*1149G= (n.*1149G=) c.271G= (p.Ala91=) c.106G= (p.Ala36=) c.507G= c.1405G= (p.Ala469=) c.1396G= (p.Ala466=) c.1423G= (p.Ala475=) c.1420G= (p.Ala474=) c.1402G= (p.Ala468=) c.1345G= (p.Ala449=) c.1393G= (p.Ala465=) c.1399G= (p.Ala467=) c.1315G= (p.Ala439=) c.1243G= (p.Ala415=) c.538G= (p.Ala180=) | |
9 | g.137757924G>T | CA375765905 | EHMT1 | c.1414G>T (p.Ala472Ser) c.1300G>T (p.Ala434Ser) c.1321G>T (p.Ala441Ser) c.1454G>T (n.1454G>T) c.1359G>T c.1041G>T c.583G>T (p.Ala195Ser) c.*1149G>T (n.*1149G>T) c.271G>T (p.Ala91Ser) c.106G>T (p.Ala36Ser) c.507G>T c.1405G>T (p.Ala469Ser) c.1396G>T (p.Ala466Ser) c.1423G>T (p.Ala475Ser) c.1420G>T (p.Ala474Ser) c.1402G>T (p.Ala468Ser) c.1345G>T (p.Ala449Ser) c.1393G>T (p.Ala465Ser) c.1399G>T (p.Ala467Ser) c.1315G>T (p.Ala439Ser) c.1243G>T (p.Ala415Ser) c.538G>T (p.Ala180Ser) | |
9 | g.137757925C>A | CA375765910 | EHMT1 | c.1415C>A (p.Ala472Glu) c.1301C>A (p.Ala434Glu) c.1322C>A (p.Ala441Glu) c.1455C>A (n.1455C>A) c.1360C>A c.1042C>A c.584C>A (p.Ala195Glu) c.*1150C>A (n.*1150C>A) c.272C>A (p.Ala91Glu) c.107C>A (p.Ala36Glu) c.508C>A c.1406C>A (p.Ala469Glu) c.1397C>A (p.Ala466Glu) c.1424C>A (p.Ala475Glu) c.1421C>A (p.Ala474Glu) c.1403C>A (p.Ala468Glu) c.1346C>A (p.Ala449Glu) c.1394C>A (p.Ala465Glu) c.1400C>A (p.Ala467Glu) c.1316C>A (p.Ala439Glu) c.1244C>A (p.Ala415Glu) c.539C>A (p.Ala180Glu) | |
9 | g.137757925C>G | CA375765917 | EHMT1 | c.1415C>G (p.Ala472Gly) c.1301C>G (p.Ala434Gly) c.1322C>G (p.Ala441Gly) c.1455C>G (n.1455C>G) c.1360C>G c.1042C>G c.584C>G (p.Ala195Gly) c.*1150C>G (n.*1150C>G) c.272C>G (p.Ala91Gly) c.107C>G (p.Ala36Gly) c.508C>G c.1406C>G (p.Ala469Gly) c.1397C>G (p.Ala466Gly) c.1424C>G (p.Ala475Gly) c.1421C>G (p.Ala474Gly) c.1403C>G (p.Ala468Gly) c.1346C>G (p.Ala449Gly) c.1394C>G (p.Ala465Gly) c.1400C>G (p.Ala467Gly) c.1316C>G (p.Ala439Gly) c.1244C>G (p.Ala415Gly) c.539C>G (p.Ala180Gly) | |
9 | g.137757925C>T | CA375765922 | EHMT1 | c.1415C>T (p.Ala472Val) c.1301C>T (p.Ala434Val) c.1322C>T (p.Ala441Val) c.1455C>T (n.1455C>T) c.1360C>T c.1042C>T c.584C>T (p.Ala195Val) c.*1150C>T (n.*1150C>T) c.272C>T (p.Ala91Val) c.107C>T (p.Ala36Val) c.508C>T c.1406C>T (p.Ala469Val) c.1397C>T (p.Ala466Val) c.1424C>T (p.Ala475Val) c.1421C>T (p.Ala474Val) c.1403C>T (p.Ala468Val) c.1346C>T (p.Ala449Val) c.1394C>T (p.Ala465Val) c.1400C>T (p.Ala467Val) c.1316C>T (p.Ala439Val) c.1244C>T (p.Ala415Val) c.539C>T (p.Ala180Val) | ClinVar |
9 | g.137757926A>C | CA467873780 | EHMT1 | c.1416A>C (p.Ala472=) c.1302A>C (p.Ala434=) c.1323A>C (p.Ala441=) c.1456A>C (n.1456A>C) c.1361A>C c.1043A>C c.585A>C (p.Ala195=) c.*1151A>C (n.*1151A>C) c.273A>C (p.Ala91=) c.108A>C (p.Ala36=) c.509A>C c.1407A>C (p.Ala469=) c.1398A>C (p.Ala466=) c.1425A>C (p.Ala475=) c.1422A>C (p.Ala474=) c.1404A>C (p.Ala468=) c.1347A>C (p.Ala449=) c.1395A>C (p.Ala465=) c.1401A>C (p.Ala467=) c.1317A>C (p.Ala439=) c.1245A>C (p.Ala415=) c.540A>C (p.Ala180=) | |
9 | g.137757926A>G | CA467873778 | EHMT1 | c.1416A>G (p.Ala472=) c.1302A>G (p.Ala434=) c.1323A>G (p.Ala441=) c.1456A>G (n.1456A>G) c.1361A>G c.1043A>G c.585A>G (p.Ala195=) c.*1151A>G (n.*1151A>G) c.273A>G (p.Ala91=) c.108A>G (p.Ala36=) c.509A>G c.1407A>G (p.Ala469=) c.1398A>G (p.Ala466=) c.1425A>G (p.Ala475=) c.1422A>G (p.Ala474=) c.1404A>G (p.Ala468=) c.1347A>G (p.Ala449=) c.1395A>G (p.Ala465=) c.1401A>G (p.Ala467=) c.1317A>G (p.Ala439=) c.1245A>G (p.Ala415=) c.540A>G (p.Ala180=) | |
9 | g.137757926A>T | CA467873779 | EHMT1 | c.1416A>T (p.Ala472=) c.1302A>T (p.Ala434=) c.1323A>T (p.Ala441=) c.1456A>T (n.1456A>T) c.1361A>T c.1043A>T c.585A>T (p.Ala195=) c.*1151A>T (n.*1151A>T) c.273A>T (p.Ala91=) c.108A>T (p.Ala36=) c.509A>T c.1407A>T (p.Ala469=) c.1398A>T (p.Ala466=) c.1425A>T (p.Ala475=) c.1422A>T (p.Ala474=) c.1404A>T (p.Ala468=) c.1347A>T (p.Ala449=) c.1395A>T (p.Ala465=) c.1401A>T (p.Ala467=) c.1317A>T (p.Ala439=) c.1245A>T (p.Ala415=) c.540A>T (p.Ala180=) | |
9 | g.137757927C>A | CA375765925 | EHMT1 | c.1417C>A (p.Pro473Thr) c.1303C>A (p.Pro435Thr) c.1324C>A (p.Pro442Thr) c.1457C>A (n.1457C>A) c.1362C>A c.1044C>A c.586C>A (p.Pro196Thr) c.*1152C>A (n.*1152C>A) c.274C>A (p.Pro92Thr) c.109C>A (p.Pro37Thr) c.510C>A c.1408C>A (p.Pro470Thr) c.1399C>A (p.Pro467Thr) c.1426C>A (p.Pro476Thr) c.1423C>A (p.Pro475Thr) c.1405C>A (p.Pro469Thr) c.1348C>A (p.Pro450Thr) c.1396C>A (p.Pro466Thr) c.1402C>A (p.Pro468Thr) c.1318C>A (p.Pro440Thr) c.1246C>A (p.Pro416Thr) c.541C>A (p.Pro181Thr) | |
9 | g.137757927C>G | CA375765930 | EHMT1 | c.1417C>G (p.Pro473Ala) c.1303C>G (p.Pro435Ala) c.1324C>G (p.Pro442Ala) c.1457C>G (n.1457C>G) c.1362C>G c.1044C>G c.586C>G (p.Pro196Ala) c.*1152C>G (n.*1152C>G) c.274C>G (p.Pro92Ala) c.109C>G (p.Pro37Ala) c.510C>G c.1408C>G (p.Pro470Ala) c.1399C>G (p.Pro467Ala) c.1426C>G (p.Pro476Ala) c.1423C>G (p.Pro475Ala) c.1405C>G (p.Pro469Ala) c.1348C>G (p.Pro450Ala) c.1396C>G (p.Pro466Ala) c.1402C>G (p.Pro468Ala) c.1318C>G (p.Pro440Ala) c.1246C>G (p.Pro416Ala) c.541C>G (p.Pro181Ala) | |
9 | g.137757927C>T | CA375765944 | EHMT1 | c.1417C>T (p.Pro473Ser) c.1303C>T (p.Pro435Ser) c.1324C>T (p.Pro442Ser) c.1457C>T (n.1457C>T) c.1362C>T c.1044C>T c.586C>T (p.Pro196Ser) c.*1152C>T (n.*1152C>T) c.274C>T (p.Pro92Ser) c.109C>T (p.Pro37Ser) c.510C>T c.1408C>T (p.Pro470Ser) c.1399C>T (p.Pro467Ser) c.1426C>T (p.Pro476Ser) c.1423C>T (p.Pro475Ser) c.1405C>T (p.Pro469Ser) c.1348C>T (p.Pro450Ser) c.1396C>T (p.Pro466Ser) c.1402C>T (p.Pro468Ser) c.1318C>T (p.Pro440Ser) c.1246C>T (p.Pro416Ser) c.541C>T (p.Pro181Ser) | |
9 | g.137757928C>A | CA375765948 | EHMT1 | c.1418C>A (p.Pro473Gln) c.1304C>A (p.Pro435Gln) c.1325C>A (p.Pro442Gln) c.1458C>A (n.1458C>A) c.1363C>A c.1045C>A c.587C>A (p.Pro196Gln) c.*1153C>A (n.*1153C>A) c.275C>A (p.Pro92Gln) c.110C>A (p.Pro37Gln) c.511C>A c.1409C>A (p.Pro470Gln) c.1400C>A (p.Pro467Gln) c.1427C>A (p.Pro476Gln) c.1424C>A (p.Pro475Gln) c.1406C>A (p.Pro469Gln) c.1349C>A (p.Pro450Gln) c.1397C>A (p.Pro466Gln) c.1403C>A (p.Pro468Gln) c.1319C>A (p.Pro440Gln) c.1247C>A (p.Pro416Gln) c.542C>A (p.Pro181Gln) | |
9 | g.137757928C>G | CA375765950 | EHMT1 | c.1418C>G (p.Pro473Arg) c.1304C>G (p.Pro435Arg) c.1325C>G (p.Pro442Arg) c.1458C>G (n.1458C>G) c.1363C>G c.1045C>G c.587C>G (p.Pro196Arg) c.*1153C>G (n.*1153C>G) c.275C>G (p.Pro92Arg) c.110C>G (p.Pro37Arg) c.511C>G c.1409C>G (p.Pro470Arg) c.1400C>G (p.Pro467Arg) c.1427C>G (p.Pro476Arg) c.1424C>G (p.Pro475Arg) c.1406C>G (p.Pro469Arg) c.1349C>G (p.Pro450Arg) c.1397C>G (p.Pro466Arg) c.1403C>G (p.Pro468Arg) c.1319C>G (p.Pro440Arg) c.1247C>G (p.Pro416Arg) c.542C>G (p.Pro181Arg) | |
9 | g.137757928C>T | CA375765951 | EHMT1 | c.1418C>T (p.Pro473Leu) c.1304C>T (p.Pro435Leu) c.1325C>T (p.Pro442Leu) c.1458C>T (n.1458C>T) c.1363C>T c.1045C>T c.587C>T (p.Pro196Leu) c.*1153C>T (n.*1153C>T) c.275C>T (p.Pro92Leu) c.110C>T (p.Pro37Leu) c.511C>T c.1409C>T (p.Pro470Leu) c.1400C>T (p.Pro467Leu) c.1427C>T (p.Pro476Leu) c.1424C>T (p.Pro475Leu) c.1406C>T (p.Pro469Leu) c.1349C>T (p.Pro450Leu) c.1397C>T (p.Pro466Leu) c.1403C>T (p.Pro468Leu) c.1319C>T (p.Pro440Leu) c.1247C>T (p.Pro416Leu) c.542C>T (p.Pro181Leu) | |
9 | g.137757929A= | CA1884657123 | EHMT1 | c.1419A= (p.Pro473=) c.1305A= (p.Pro435=) c.1326A= (p.Pro442=) c.1459A= (n.1459A=) c.1364A= c.1046A= c.588A= (p.Pro196=) c.*1154A= (n.*1154A=) c.276A= (p.Pro92=) c.111A= (p.Pro37=) c.512A= c.1410A= (p.Pro470=) c.1401A= (p.Pro467=) c.1428A= (p.Pro476=) c.1425A= (p.Pro475=) c.1407A= (p.Pro469=) c.1350A= (p.Pro450=) c.1398A= (p.Pro466=) c.1404A= (p.Pro468=) c.1320A= (p.Pro440=) c.1248A= (p.Pro416=) c.543A= (p.Pro181=) | |
9 | g.137757929A>C | CA467873781 | EHMT1 | c.1419A>C (p.Pro473=) c.1305A>C (p.Pro435=) c.1326A>C (p.Pro442=) c.1459A>C (n.1459A>C) c.1364A>C c.1046A>C c.588A>C (p.Pro196=) c.*1154A>C (n.*1154A>C) c.276A>C (p.Pro92=) c.111A>C (p.Pro37=) c.512A>C c.1410A>C (p.Pro470=) c.1401A>C (p.Pro467=) c.1428A>C (p.Pro476=) c.1425A>C (p.Pro475=) c.1407A>C (p.Pro469=) c.1350A>C (p.Pro450=) c.1398A>C (p.Pro466=) c.1404A>C (p.Pro468=) c.1320A>C (p.Pro440=) c.1248A>C (p.Pro416=) c.543A>C (p.Pro181=) | |
9 | g.137757929A>G | CA467873783 | EHMT1 | c.1419A>G (p.Pro473=) c.1305A>G (p.Pro435=) c.1326A>G (p.Pro442=) c.1459A>G (n.1459A>G) c.1364A>G c.1046A>G c.588A>G (p.Pro196=) c.*1154A>G (n.*1154A>G) c.276A>G (p.Pro92=) c.111A>G (p.Pro37=) c.512A>G c.1410A>G (p.Pro470=) c.1401A>G (p.Pro467=) c.1428A>G (p.Pro476=) c.1425A>G (p.Pro475=) c.1407A>G (p.Pro469=) c.1350A>G (p.Pro450=) c.1398A>G (p.Pro466=) c.1404A>G (p.Pro468=) c.1320A>G (p.Pro440=) c.1248A>G (p.Pro416=) c.543A>G (p.Pro181=) | dbSNP gnomAD v4 |
9 | g.137757929A>T | CA467873782 | EHMT1 | c.1419A>T (p.Pro473=) c.1305A>T (p.Pro435=) c.1326A>T (p.Pro442=) c.1459A>T (n.1459A>T) c.1364A>T c.1046A>T c.588A>T (p.Pro196=) c.*1154A>T (n.*1154A>T) c.276A>T (p.Pro92=) c.111A>T (p.Pro37=) c.512A>T c.1410A>T (p.Pro470=) c.1401A>T (p.Pro467=) c.1428A>T (p.Pro476=) c.1425A>T (p.Pro475=) c.1407A>T (p.Pro469=) c.1350A>T (p.Pro450=) c.1398A>T (p.Pro466=) c.1404A>T (p.Pro468=) c.1320A>T (p.Pro440=) c.1248A>T (p.Pro416=) c.543A>T (p.Pro181=) | |
9 | g.137757930G>A | CA375765958 | EHMT1 | c.1420G>A (p.Gly474Arg) c.1306G>A (p.Gly436Arg) c.1327G>A (p.Gly443Arg) c.1460G>A (n.1460G>A) c.1365G>A c.1047G>A c.589G>A (p.Gly197Arg) c.*1155G>A (n.*1155G>A) c.277G>A (p.Gly93Arg) c.112G>A (p.Gly38Arg) c.513G>A c.1411G>A (p.Gly471Arg) c.1402G>A (p.Gly468Arg) c.1429G>A (p.Gly477Arg) c.1426G>A (p.Gly476Arg) c.1408G>A (p.Gly470Arg) c.1351G>A (p.Gly451Arg) c.1399G>A (p.Gly467Arg) c.1405G>A (p.Gly469Arg) c.1321G>A (p.Gly441Arg) c.1249G>A (p.Gly417Arg) c.544G>A (p.Gly182Arg) | |
9 | g.137757930G>C | CA375765968 | EHMT1 | c.1420G>C (p.Gly474Arg) c.1306G>C (p.Gly436Arg) c.1327G>C (p.Gly443Arg) c.1460G>C (n.1460G>C) c.1365G>C c.1047G>C c.589G>C (p.Gly197Arg) c.*1155G>C (n.*1155G>C) c.277G>C (p.Gly93Arg) c.112G>C (p.Gly38Arg) c.513G>C c.1411G>C (p.Gly471Arg) c.1402G>C (p.Gly468Arg) c.1429G>C (p.Gly477Arg) c.1426G>C (p.Gly476Arg) c.1408G>C (p.Gly470Arg) c.1351G>C (p.Gly451Arg) c.1399G>C (p.Gly467Arg) c.1405G>C (p.Gly469Arg) c.1321G>C (p.Gly441Arg) c.1249G>C (p.Gly417Arg) c.544G>C (p.Gly182Arg) | |
9 | g.137757930G= | CA1884657124 | EHMT1 | c.1420G= (p.Gly474=) c.1306G= (p.Gly436=) c.1327G= (p.Gly443=) c.1460G= (n.1460G=) c.1365G= c.1047G= c.589G= (p.Gly197=) c.*1155G= (n.*1155G=) c.277G= (p.Gly93=) c.112G= (p.Gly38=) c.513G= c.1411G= (p.Gly471=) c.1402G= (p.Gly468=) c.1429G= (p.Gly477=) c.1426G= (p.Gly476=) c.1408G= (p.Gly470=) c.1351G= (p.Gly451=) c.1399G= (p.Gly467=) c.1405G= (p.Gly469=) c.1321G= (p.Gly441=) c.1249G= (p.Gly417=) c.544G= (p.Gly182=) | |
9 | g.137757930G>T | CA375765972 | EHMT1 | c.1420G>T (p.Gly474Ter) c.1306G>T (p.Gly436Ter) c.1327G>T (p.Gly443Ter) c.1460G>T (n.1460G>T) c.1365G>T c.1047G>T c.589G>T (p.Gly197Ter) c.*1155G>T (n.*1155G>T) c.277G>T (p.Gly93Ter) c.112G>T (p.Gly38Ter) c.513G>T c.1411G>T (p.Gly471Ter) c.1402G>T (p.Gly468Ter) c.1429G>T (p.Gly477Ter) c.1426G>T (p.Gly476Ter) c.1408G>T (p.Gly470Ter) c.1351G>T (p.Gly451Ter) c.1399G>T (p.Gly467Ter) c.1405G>T (p.Gly469Ter) c.1321G>T (p.Gly441Ter) c.1249G>T (p.Gly417Ter) c.544G>T (p.Gly182Ter) | ClinVar dbSNP |
9 | g.137757931G>A | CA375765977 | EHMT1 | c.1421G>A (p.Gly474Glu) c.1307G>A (p.Gly436Glu) c.1328G>A (p.Gly443Glu) c.1461G>A (n.1461G>A) c.1366G>A c.1048G>A c.590G>A (p.Gly197Glu) c.*1156G>A (n.*1156G>A) c.278G>A (p.Gly93Glu) c.113G>A (p.Gly38Glu) c.514G>A c.1412G>A (p.Gly471Glu) c.1403G>A (p.Gly468Glu) c.1430G>A (p.Gly477Glu) c.1427G>A (p.Gly476Glu) c.1409G>A (p.Gly470Glu) c.1352G>A (p.Gly451Glu) c.1400G>A (p.Gly467Glu) c.1406G>A (p.Gly469Glu) c.1322G>A (p.Gly441Glu) c.1250G>A (p.Gly417Glu) c.545G>A (p.Gly182Glu) | |
9 | g.137757931G>C | CA375765975 | EHMT1 | c.1421G>C (p.Gly474Ala) c.1307G>C (p.Gly436Ala) c.1328G>C (p.Gly443Ala) c.1461G>C (n.1461G>C) c.1366G>C c.1048G>C c.590G>C (p.Gly197Ala) c.*1156G>C (n.*1156G>C) c.278G>C (p.Gly93Ala) c.113G>C (p.Gly38Ala) c.514G>C c.1412G>C (p.Gly471Ala) c.1403G>C (p.Gly468Ala) c.1430G>C (p.Gly477Ala) c.1427G>C (p.Gly476Ala) c.1409G>C (p.Gly470Ala) c.1352G>C (p.Gly451Ala) c.1400G>C (p.Gly467Ala) c.1406G>C (p.Gly469Ala) c.1322G>C (p.Gly441Ala) c.1250G>C (p.Gly417Ala) c.545G>C (p.Gly182Ala) | |
9 | g.137757931G>T | CA375765976 | EHMT1 | c.1421G>T (p.Gly474Val) c.1307G>T (p.Gly436Val) c.1328G>T (p.Gly443Val) c.1461G>T (n.1461G>T) c.1366G>T c.1048G>T c.590G>T (p.Gly197Val) c.*1156G>T (n.*1156G>T) c.278G>T (p.Gly93Val) c.113G>T (p.Gly38Val) c.514G>T c.1412G>T (p.Gly471Val) c.1403G>T (p.Gly468Val) c.1430G>T (p.Gly477Val) c.1427G>T (p.Gly476Val) c.1409G>T (p.Gly470Val) c.1352G>T (p.Gly451Val) c.1400G>T (p.Gly467Val) c.1406G>T (p.Gly469Val) c.1322G>T (p.Gly441Val) c.1250G>T (p.Gly417Val) c.545G>T (p.Gly182Val) | |
9 | g.137757932A>C | CA467873784 | EHMT1 | c.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=) | |
9 | g.137757932A>G | CA467873785 | EHMT1 | c.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=) | |
9 | g.137757932A>T | CA467873786 | EHMT1 | c.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=) | |
9 | g.137757933G>A | CA5374620 | EHMT1 | c.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 |
9 | g.137757933G>C | CA375765978 | EHMT1 | c.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) | |
9 | g.137757933G= | CA1884657125 | EHMT1 | c.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=) | |
9 | g.137757933G>T | CA375765979 | EHMT1 | c.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) | |
9 | g.137757934A>C | CA375765980 | EHMT1 | c.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) | |
9 | g.137757934A>G | CA375765984 | EHMT1 | c.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 |
9 | g.137757934A>T | CA375765987 | EHMT1 | c.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) | |
9 | g.137757935C>A | CA375765991 | EHMT1 | c.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) | |
9 | g.137757935C= | CA1884657126 | EHMT1 | c.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=) | |
9 | g.137757935C>G | CA375765998 | EHMT1 | c.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) | |
9 | g.137757935C>T | CA248232 | EHMT1 | c.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 |
9 | g.137757935_137757936insTGT | CA2692881618 | EHMT1 | c.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 |
9 | g.137757936A>C | CA375766008 | EHMT1 | c.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 |
9 | g.137757936A>G | CA375766023 | EHMT1 | c.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 |
9 | g.137757936A>T | CA375766024 | EHMT1 | c.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) | |
9 | g.137757937G>A | CA375766027 | EHMT1 | c.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 |
9 | g.137757937G>C | CA375766026 | EHMT1 | c.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) | |
9 | g.137757937G= | CA1884657127 | EHMT1 | c.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=) | |
9 | g.137757937G>T | CA375766025 | EHMT1 | c.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) | |
9 | g.137757938C>A | CA375766032 | EHMT1 | c.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) | |
9 | g.137757938C= | CA1884657128 | EHMT1 | c.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=) | |
9 | g.137757938C>G | CA375766029 | EHMT1 | c.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) | |
9 | g.137757938C>T | CA5374621 | EHMT1 | c.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 |
9 | g.137757939A>C | CA375766037 | EHMT1 | c.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) | |
9 | g.137757939A>G | CA375766040 | EHMT1 | c.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 |
9 | g.137757939A>T | CA375766048 | EHMT1 | c.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) | |
9 | g.137757940C>A | CA375766062 | EHMT1 | c.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) | |
9 | g.137757940C= | CA1884657129 | EHMT1 | c.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=) | |
9 | g.137757940C>G | CA375766056 | EHMT1 | c.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 |
9 | g.137757940C>T | CA375766052 | EHMT1 | c.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 |
9 | g.137757941A>C | CA467873787 | EHMT1 | c.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=) | |
9 | g.137757941A>G | CA467873788 | EHMT1 | c.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 |
9 | g.137757941A>T | CA467873789 | EHMT1 | c.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=) | |
9 | g.137757942G>A | CA5374622 | EHMT1 | c.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 |
9 | g.137757942G>C | CA375766069 | EHMT1 | c.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) | |
9 | g.137757942G= | CA1884657130 | EHMT1 | c.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=) | |
9 | g.137757942G>T | CA375766071 | EHMT1 | c.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) | |
9 | g.137757943G>A | CA5374623 | EHMT1 | c.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 |
9 | g.137757943G>C | CA375766074 | EHMT1 | c.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) | |
9 | g.137757943G= | CA1884657131 | EHMT1 | c.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=) | |
9 | g.137757943G>T | CA375766077 | EHMT1 | c.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) | |
9 | g.137757943_137757945delinsGGT | CA1884657132 | EHMT1 | c.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=) | |
9 | g.137757944G>A | CA467873790 | EHMT1 | c.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 |
9 | g.137757944G>C | CA467873791 | EHMT1 | c.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=) | |
9 | g.137757944G>T | CA467873792 | EHMT1 | c.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=) | |
9 | g.137757944_137757945del | CA658797392 | EHMT1 | c.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 |
9 | g.137757945T>A | CA375766082 | EHMT1 | c.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) | |
9 | g.137757945T>C | CA375766090 | EHMT1 | c.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) | |
9 | g.137757945T>G | CA375766088 | EHMT1 | c.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) | |
9 | g.137757946A>C | CA375766098 | EHMT1 | c.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) | |
9 | g.137757946A>G | CA375766101 | EHMT1 | c.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 |
9 | g.137757946A>T | CA375766103 | EHMT1 | c.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) | |
9 | g.137757947C>A | CA375766104 | EHMT1 | c.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) | |
9 | g.137757947C= | CA1884657133 | EHMT1 | c.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=) | |
9 | g.137757947C>G | CA375766105 | EHMT1 | c.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) | |
9 | g.137757947C>T | CA5374624 | EHMT1 | c.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 |
9 | g.137757948A= | CA1884657134 | EHMT1 | c.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=) | |
9 | g.137757948A>C | CA375766108 | EHMT1 | c.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 |
9 | g.137757948A>G | CA5374625 | EHMT1 | c.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 |
9 | g.137757948A>T | CA375766123 | EHMT1 | c.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 |
9 | g.137757948dup | CA2580617493 | EHMT1 | c.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 |
9 | g.137757949T>A | CA375766132 | EHMT1 | c.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) | |
9 | g.137757949T>C | CA375766136 | EHMT1 | c.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 |
9 | g.137757949T>G | CA375766139 | EHMT1 | c.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) | |
9 | g.137757949T= | CA1884657135 | EHMT1 | c.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=) | |
9 | g.137757950G>A | CA375766149 | EHMT1 | c.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) | |
9 | g.137757950G>C | CA375766150 | EHMT1 | c.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) | |
9 | g.137757950G>T | CA375766142 | EHMT1 | c.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) | |
9 | g.137757951G>A | CA375766155 | EHMT1 | c.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 |
9 | g.137757951G>C | CA375766163 | EHMT1 | c.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) | |
9 | g.137757951G>T | CA375766161 | EHMT1 | c.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) | |
9 | g.137757952A>C | CA375766182 | EHMT1 | c.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) | |
9 | g.137757952A>G | CA375766183 | EHMT1 | c.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) | |
9 | g.137757952A>T | CA375766191 | EHMT1 | c.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) | |
9 | g.137757953A>C | CA375766196 | EHMT1 | c.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) | |
9 | g.137757953A>G | CA467873793 | EHMT1 | c.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=) | |
9 | g.137757953A>T | CA375766198 | EHMT1 | c.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 |
9 | g.137757954G>A | CA375766205 | EHMT1 | c.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 |
9 | g.137757954G>C | CA375766207 | EHMT1 | c.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) | |
9 | g.137757954G= | CA1884657136 | EHMT1 | c.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=) | |
9 | g.137757954G>T | CA375766210 | EHMT1 | c.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) | |
9 | g.137757955T>A | CA375766212 | EHMT1 | c.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) | |
9 | g.137757955T>C | CA375766215 | EHMT1 | c.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 |
9 | g.137757955T>G | CA375766216 | EHMT1 | c.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) | |
9 | g.137757956T>A | CA467873794 | EHMT1 | c.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=) | |
9 | g.137757956T>C | CA467873796 | EHMT1 | c.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=) | |
9 | g.137757956T>G | CA467873795 | EHMT1 | c.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=) | |
9 | g.137757957T>A | CA375766225 | EHMT1 | c.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) | |
9 | g.137757957T>C | CA375766221 | EHMT1 | c.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) | |
9 | g.137757957T>G | CA375766219 | EHMT1 | c.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) | |
9 | g.137757958C>A | CA201787792 | EHMT1 | c.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 |
9 | g.137757958C= | CA1884657137 | EHMT1 | c.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=) | |
9 | g.137757958C>G | CA375766236 | EHMT1 | c.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 |
9 | g.137757958C>T | CA375766237 | EHMT1 | c.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) | |
9 | g.137757959T>A | CA467873797 | EHMT1 | c.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 |
9 | g.137757959T>C | CA467873798 | EHMT1 | c.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=) | |
9 | g.137757959T>G | CA467873799 | EHMT1 | c.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=) | |
9 | g.137757960C>A | CA375766238 | EHMT1 | c.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) | |
9 | g.137757960C>G | CA375766239 | EHMT1 | c.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) | |
9 | g.137757960C>T | CA467873800 | EHMT1 | c.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=) | |
9 | g.137757961T>A | CA375766241 | EHMT1 | c.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) | |
9 | g.137757961T>C | CA375766243 | EHMT1 | c.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 |
9 | g.137757961T>G | CA375766244 | EHMT1 | c.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 |
9 | g.137757961T= | CA1884657138 | EHMT1 | c.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=) | |
9 | g.137757962G>A | CA467873801 | EHMT1 | c.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=) | |
9 | g.137757962G>C | CA467873803 | EHMT1 | c.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=) | |
9 | g.137757962G>T | CA467873802 | EHMT1 | c.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=) | |
9 | g.137757963G>A | CA375766247 | EHMT1 | c.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) | |
9 | g.137757963G>C | CA375766250 | EHMT1 | c.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 |
9 | g.137757963G>T | CA375766253 | EHMT1 | c.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) | |
9 | g.137757964A>C | CA375766265 | EHMT1 | c.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) | |
9 | g.137757964A>G | CA375766258 | EHMT1 | c.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) | |
9 | g.137757964A>T | CA375766255 | EHMT1 | c.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) | |
9 | g.137757965C>A | CA375766266 | EHMT1 | c.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) | |
9 | g.137757965C= | CA1884657139 | EHMT1 | c.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=) | |
9 | g.137757965C>G | CA375766267 | EHMT1 | c.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) | |
9 | g.137757965C>T | CA5374626 | EHMT1 | c.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 |
9 | g.137757966T>A | CA375766272 | EHMT1 | c.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 |
9 | g.137757966T>C | CA375766275 | EHMT1 | c.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) | |
9 | g.137757966T>G | CA375766277 | EHMT1 | c.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) | |
9 | g.137757966dup | CA2840034136 | EHMT1 | c.1456dup (p.Ser486PhefsTer?) c.1342dup (p.Ser448PhefsTer?) c.1363dup (p.Ser455PhefsTer?) c.1496dup (n.1496dup) c.1401dup c.1083dup c.625dup (p.Ser209PhefsTer?) c.*1191dup (n.*1191dup) c.313dup (p.Ser105PhefsTer?) c.148dup (p.Ser50PhefsTer?) c.549dup c.1447dup (p.Ser483PhefsTer?) c.1438dup (p.Ser480PhefsTer?) c.1465dup (p.Ser489PhefsTer?) c.1462dup (p.Ser488PhefsTer?) c.1444dup (p.Ser482PhefsTer?) c.1387dup (p.Ser463PhefsTer?) c.1435dup (p.Ser479PhefsTer?) c.1441dup (p.Ser481PhefsTer?) c.1357dup (p.Ser453PhefsTer?) c.1285dup (p.Ser429PhefsTer?) c.580dup (p.Ser194PhefsTer?) | |
9 | g.137757966_137757967delinsAA | CA891842588 | EHMT1 | c.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 |
9 | g.137757966_137757967delinsTC | CA1884657140 | EHMT1 | c.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=) | |
9 | g.137757967C>A | CA375766287 | EHMT1 | c.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) | |
9 | g.137757967C>G | CA375766290 | EHMT1 | c.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) | |
9 | g.137757967C>T | CA375766294 | EHMT1 | c.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 |
9 | g.137757968C>A | CA5374628 | EHMT1 | c.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 |
9 | g.137757968C= | CA1884657141 | EHMT1 | c.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=) | |
9 | g.137757968C>G | CA467873804 | EHMT1 | c.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=) | |
9 | g.137757968C>T | CA5374627 | EHMT1 | c.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 |
9 | g.137757969C>A | CA375766300 | EHMT1 | c.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) | |
9 | g.137757969C= | CA1884657142 | EHMT1 | c.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=) | |
9 | g.137757969C>G | CA375766302 | EHMT1 | c.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 |
9 | g.137757969C>T | CA467873805 | EHMT1 | c.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 |
9 | g.137757970T>A | CA375766315 | EHMT1 | c.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 |
9 | g.137757970T>C | CA375766308 | EHMT1 | c.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) | |
9 | g.137757970T>G | CA375766314 | EHMT1 | c.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) | |
9 | g.137757971G>A | CA467873808 | EHMT1 | c.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 |
9 | g.137757971G>C | CA467873806 | EHMT1 | c.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=) | |
9 | g.137757971G= | CA1884657143 | EHMT1 | c.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=) | |
9 | g.137757971G>T | CA467873807 | EHMT1 | c.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=) | |
9 | g.137757972G>A | CA375766318 | EHMT1 | c.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 |
9 | g.137757972G>C | CA375766319 | EHMT1 | c.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 |
9 | g.137757972G>T | CA375766320 | EHMT1 | c.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) | |
9 | g.137757973A>C | CA375766321 | EHMT1 | c.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) | |
9 | g.137757973A>G | CA375766322 | EHMT1 | c.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) | |
9 | g.137757973A>T | CA375766324 | EHMT1 | c.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) | |
9 | g.137757974T>A | CA375766327 | EHMT1 | c.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) | |
9 | g.137757974T>C | CA467873809 | EHMT1 | c.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=) | |
9 | g.137757974T>G | CA375766328 | EHMT1 | c.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) | |
9 | g.137757975C>A | CA375766340 | EHMT1 | c.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) | |
9 | g.137757975C>G | CA375766347 | EHMT1 | c.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) | |
9 | g.137757975C>T | CA375766351 | EHMT1 | c.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) | |
9 | g.137757976T>A | CA375766371 | EHMT1 | c.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) | |
9 | g.137757976T>C | CA375766370 | EHMT1 | c.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) | |
9 | g.137757976T>G | CA375766369 | EHMT1 | c.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) | |
9 | g.137757977C>A | CA467873810 | EHMT1 | c.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=) | |
9 | g.137757977C>G | CA467873811 | EHMT1 | c.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=) | |
9 | g.137757977C>T | CA467873812 | EHMT1 | c.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=) | |
9 | g.137757978C>A | CA467873813 | EHMT1 | c.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 |
9 | g.137757978C= | CA1884657144 | EHMT1 | c.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=) | |
9 | g.137757978C>G | CA375766372 | EHMT1 | c.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 |
9 | g.137757978C>T | CA375766374 | EHMT1 | c.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 |
9 | g.137757979G>A | CA5374629 | EHMT1 | c.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 |
9 | g.137757979G>C | CA375766387 | EHMT1 | c.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) | |
9 | g.137757979G= | CA1884657145 | EHMT1 | c.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=) | |
9 | g.137757979G>T | CA375766385 | EHMT1 | c.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 |
9 | g.137757980A>C | CA467873814 | EHMT1 | c.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=) | |
9 | g.137757980A>G | CA467873815 | EHMT1 | c.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=) | |
9 | g.137757980A>T | CA467873816 | EHMT1 | c.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=) | |
9 | g.137757981G>A | CA5374630 | EHMT1 | c.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 |
9 | g.137757981G>C | CA375766393 | EHMT1 | c.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) | |
9 | g.137757981G= | CA1884657146 | EHMT1 | c.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=) | |
9 | g.137757981G>T | CA375766403 | EHMT1 | c.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) | |
9 | g.137757982T>A | CA375766405 | EHMT1 | c.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) | |
9 | g.137757982T>C | CA375766412 | EHMT1 | c.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) | |
9 | g.137757982T>G | CA375766420 | EHMT1 | c.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) | |
9 | g.137757983C>A | CA467873817 | EHMT1 | c.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 |
9 | g.137757983C= | CA1884657147 | EHMT1 | c.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=) | |
9 | g.137757983C>G | CA467873818 | EHMT1 | c.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=) | |
9 | g.137757983C>T | CA467873819 | EHMT1 | c.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=) | |
9 | g.137757984A>C | CA375766423 | EHMT1 | c.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) | |
9 | g.137757984A>G | CA375766424 | EHMT1 | c.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 |
9 | g.137757984A>T | CA375766425 | EHMT1 | c.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) | |
9 | g.137757985A>C | CA375766426 | EHMT1 | c.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) | |
9 | g.137757985A>G | CA375766429 | EHMT1 | c.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) | |
9 | g.137757985A>T | CA375766430 | EHMT1 | c.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) | |
9 | g.137757986A>C | CA375766438 | EHMT1 | c.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) | |
9 | g.137757986A>G | CA467873820 | EHMT1 | c.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=) | |
9 | g.137757986A>T | CA375766435 | EHMT1 | c.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) | |
9 | g.137757987G>A | CA375766440 | EHMT1 | c.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 |
9 | g.137757987G>C | CA375766444 | EHMT1 | c.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) | |
9 | g.137757987G>T | CA375766446 | EHMT1 | c.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) | |
9 | g.137757988dup | CA2840462575 | EHMT1 | c.1478dup (p.Ile494AsnfsTer?) c.1364dup (p.Ile456AsnfsTer?) c.1385dup (p.Ile463AsnfsTer?) c.1518dup (n.1518dup) c.1423dup c.1105dup c.647dup (p.Ile217AsnfsTer?) c.*1213dup (n.*1213dup) c.335dup (p.Ile113AsnfsTer?) c.170dup (p.Ile58AsnfsTer?) c.571dup c.1469dup (p.Ile491AsnfsTer?) c.1460dup (p.Ile488AsnfsTer?) c.1487dup (p.Ile497AsnfsTer?) c.1484dup (p.Ile496AsnfsTer?) c.1466dup (p.Ile490AsnfsTer?) c.1409dup (p.Ile471AsnfsTer?) c.1457dup (p.Ile487AsnfsTer?) c.1463dup (p.Ile489AsnfsTer?) c.1379dup (p.Ile461AsnfsTer?) c.1307dup (p.Ile437AsnfsTer?) c.602dup (p.Ile202AsnfsTer?) | |
9 | g.137757988G>A | CA375766452 | EHMT1 | c.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) | |
9 | g.137757988G>C | CA375766456 | EHMT1 | c.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) | |
9 | g.137757988G>T | CA375766457 | EHMT1 | c.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) | |
9 | g.137757989A>C | CA467873821 | EHMT1 | c.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=) | |
9 | g.137757989A>G | CA467873822 | EHMT1 | c.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 |
9 | g.137757989A>T | CA467873823 | EHMT1 | c.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=) | |
9 | g.137757990A>C | CA375766462 | EHMT1 | c.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) | |
9 | g.137757990A>G | CA375766472 | EHMT1 | c.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) | |
9 | g.137757990A>T | CA375766473 | EHMT1 | c.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) | |
9 | g.137757991T>A | CA375766474 | EHMT1 | c.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 |
9 | g.137757991T>C | CA375766475 | EHMT1 | c.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) | |
9 | g.137757991T>G | CA375766477 | EHMT1 | c.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) | |
9 | g.137757991T= | CA1884657148 | EHMT1 | c.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=) | |
9 | g.137757992T>A | CA467873825 | EHMT1 | c.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=) | |
9 | g.137757992T>C | CA467873824 | EHMT1 | c.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=) | |
9 | g.137757992T>G | CA375766480 | EHMT1 | c.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) | |
9 | g.137757993C>A | CA375766487 | EHMT1 | c.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 |
9 | g.137757993C= | CA1884657149 | EHMT1 | c.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=) | |
9 | g.137757993C>G | CA375766484 | EHMT1 | c.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) | |
9 | g.137757993C>T | CA467873826 | EHMT1 | c.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=) | |
9 | g.137757994T>A | CA375766490 | EHMT1 | c.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) | |
9 | g.137757994T>C | CA375766493 | EHMT1 | c.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) | |
9 | g.137757994T>G | CA375766497 | EHMT1 | c.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) | |
9 | g.137757995G>A | CA467873827 | EHMT1 | c.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=) | |
9 | g.137757995G>C | CA467873828 | EHMT1 | c.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=) | |
9 | g.137757995G>T | CA467873829 | EHMT1 | c.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=) | |
9 | g.137757996T>A | CA375766500 | EHMT1 | c.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) | |
9 | g.137757996T>C | CA5374631 | EHMT1 | c.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 |
9 | g.137757996T>G | CA375766501 | EHMT1 | c.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) | |
9 | g.137757996T= | CA1884657150 | EHMT1 | c.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=) | |
9 | g.137757997C>A | CA375766505 | EHMT1 | c.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 |
9 | g.137757997C>G | CA375766508 | EHMT1 | c.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) | |
9 | g.137757997C>T | CA375766512 | EHMT1 | c.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) | |
9 | g.137757998T>A | CA467873830 | EHMT1 | c.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=) | |
9 | g.137757998T>C | CA467873832 | EHMT1 | c.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=) | |
9 | g.137757998T>G | CA467873831 | EHMT1 | c.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=) | |
9 | g.137757999T>A | CA375766516 | EHMT1 | c.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) | |
9 | g.137757999T>C | CA375766518 | EHMT1 | c.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) | |
9 | g.137757999T>G | CA375766529 | EHMT1 | c.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 |
9 | g.137757999T= | CA1884657151 | EHMT1 | c.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=) | |
9 | g.137758000C>A | CA375766535 | EHMT1 | c.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) | |
9 | g.137758000C>G | CA375766543 | EHMT1 | c.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) | |
9 | g.137758000C>T | CA375766539 | EHMT1 | c.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) | |
9 | g.137758001A>C | CA467873833 | EHMT1 | c.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=) | |
9 | g.137758001A>G | CA467873835 | EHMT1 | c.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=) | |
9 | g.137758001A>T | CA467873834 | EHMT1 | c.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=) | |
9 | g.137758002C>A | CA375766549 | EHMT1 | c.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) | |
9 | g.137758002C>G | CA375766554 | EHMT1 | c.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) | |
9 | g.137758002C>T | CA375766558 | EHMT1 | c.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) | |
9 | g.137758003A= | CA1884657152 | EHMT1 | c.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=) | |
9 | g.137758003A>C | CA375766560 | EHMT1 | c.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) | |
9 | g.137758003A>G | CA375766562 | EHMT1 | c.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 |
9 | g.137758003A>T | CA375766565 | EHMT1 | c.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) | |
9 | g.137758004A>C | CA375766568 | EHMT1 | c.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) | |
9 | g.137758004A>G | CA467873836 | EHMT1 | c.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=) | |
9 | g.137758004A>T | CA375766570 | EHMT1 | c.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) | |
9 | g.137758005del | CA913190057 | EHMT1 | c.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 |
9 | g.137758005G>A | CA375766576 | EHMT1 | c.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) | |
9 | g.137758005G>C | CA375766581 | EHMT1 | c.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) | |
9 | g.137758005G>T | CA375766587 | EHMT1 | c.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) | |
9 | g.137758006C>A | CA375766594 | EHMT1 | c.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) | |
9 | g.137758006C= | CA1884657153 | EHMT1 | c.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=) | |
9 | g.137758006C>G | CA375766598 | EHMT1 | c.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) | |
9 | g.137758006C>T | CA5374632 | EHMT1 | c.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 |
9 | g.137758007A>C | CA467873837 | EHMT1 | c.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=) | |
9 | g.137758007A>G | CA467873838 | EHMT1 | c.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=) | |
9 | g.137758007A>T | CA467873839 | EHMT1 | c.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=) | |
9 | g.137758008G>A | CA375766606 | EHMT1 | c.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) | |
9 | g.137758008G>C | CA375766601 | EHMT1 | c.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) | |
9 | g.137758008G>T | CA375766603 | EHMT1 | c.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) | |
9 | g.137758009A>C | CA375766609 | EHMT1 | c.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) | |
9 | g.137758009A>G | CA375766612 | EHMT1 | c.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 |
9 | g.137758009A>T | CA375766614 | EHMT1 | c.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) | |
9 | g.137758010A>C | CA375766625 | EHMT1 | c.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) | |
9 | g.137758010A>G | CA467873840 | EHMT1 | c.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=) | |
9 | g.137758010A>T | CA375766626 | EHMT1 | c.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) | |
9 | g.137758011G>A | CA375766628 | EHMT1 | c.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) | |
9 | g.137758011G>C | CA375766630 | EHMT1 | c.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) | |
9 | g.137758011G>T | CA375766631 | EHMT1 | c.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) | |
9 | g.137758012del | CA2499219807 | EHMT1 | c.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 |
9 | g.137758012G>A | CA375766633 | EHMT1 | c.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) | |
9 | g.137758012G>C | CA375766635 | EHMT1 | c.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) | |
9 | g.137758012G>T | CA375766638 | EHMT1 | c.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) | |
9 | g.137758013T>A | CA375766644 | EHMT1 | c.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) | |
9 | g.137758013T>C | CA375766641 | EHMT1 | c.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) | |
9 | g.137758013T>G | CA375766642 | EHMT1 | c.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) | |
9 | g.137758014G>C | CA2580080984 | EHMT1 | c.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 |
9 | g.137758016A= | CA1884657154 | EHMT1 | c.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=) | |
9 | g.137758016A>G | CA5374633 | EHMT1 | c.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 |