| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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 |