Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.33736196_33741393del | CA1139666016 | ASXL3 | c.1085+1781_3042+950del c.1082+1781_3039+950del c.*206+1781_*2163+950del c.*741+1781_*2698+950del c.1294+1781_3251+950del c.914+1781_2871+950del c.962+1781_2919+950del c.1058+1781_3015+950del c.1004+1781_2961+950del c.965+1781_2922+950del | ClinVar |
18 | g.33736199_33741395del | CA915951347 | ASXL3 | c.1085+1784_3042+952del c.1082+1784_3039+952del c.*206+1784_*2163+952del c.*741+1784_*2698+952del c.1294+1784_3251+952del c.914+1784_2871+952del c.962+1784_2919+952del c.1058+1784_3015+952del c.1004+1784_2961+952del c.965+1784_2922+952del | |
18 | g.33738886_33738887delinsTC | CA2294855728 | ASXL3 | c.1485_1486delinsTC (p.Pro495=) c.1482_1483delinsTC (p.Pro494=) c.*606_*607delinsTC (n.*606_*607delinsTC) c.*1141_*1142delinsTC (n.*1141_*1142delinsTC) c.1694_1695delinsTC (n.1694_1695delinsTC) c.1314_1315delinsTC (p.Pro438=) c.1362_1363delinsTC (p.Pro454=) c.1458_1459delinsTC (p.Pro486=) c.1404_1405delinsTC (p.Pro468=) c.1365_1366delinsTC (p.Pro455=) | |
18 | g.33738887C>A | CA402175552 | ASXL3 | c.1486C>A (p.Pro496Thr) c.1483C>A (p.Pro495Thr) c.*607C>A (n.*607C>A) c.*1142C>A (n.*1142C>A) c.1695C>A (n.1695C>A) c.1315C>A (p.Pro439Thr) c.1363C>A (p.Pro455Thr) c.1459C>A (p.Pro487Thr) c.1405C>A (p.Pro469Thr) c.1366C>A (p.Pro456Thr) | |
18 | g.33738887C>G | CA402175555 | ASXL3 | c.1486C>G (p.Pro496Ala) c.1483C>G (p.Pro495Ala) c.*607C>G (n.*607C>G) c.*1142C>G (n.*1142C>G) c.1695C>G (n.1695C>G) c.1315C>G (p.Pro439Ala) c.1363C>G (p.Pro455Ala) c.1459C>G (p.Pro487Ala) c.1405C>G (p.Pro469Ala) c.1366C>G (p.Pro456Ala) | |
18 | g.33738887C>T | CA402175558 | ASXL3 | c.1486C>T (p.Pro496Ser) c.1483C>T (p.Pro495Ser) c.*607C>T (n.*607C>T) c.*1142C>T (n.*1142C>T) c.1695C>T (n.1695C>T) c.1315C>T (p.Pro439Ser) c.1363C>T (p.Pro455Ser) c.1459C>T (p.Pro487Ser) c.1405C>T (p.Pro469Ser) c.1366C>T (p.Pro456Ser) | |
18 | g.33738888del | CA10605577 | ASXL3 | c.1487del (p.Pro496LeufsTer10) c.1484del (p.Pro495LeufsTer10) c.*608del (n.*608del) c.*1143del (n.*1143del) c.1696del (n.1696del) c.1316del (p.Pro439LeufsTer10) c.1364del (p.Pro455LeufsTer10) c.1460del (p.Pro487LeufsTer10) c.1406del (p.Pro469LeufsTer10) c.1367del (p.Pro456LeufsTer10) | ClinVar dbSNP |
18 | g.33738888C>A | CA402175560 | ASXL3 | c.1487C>A (p.Pro496His) c.1484C>A (p.Pro495His) c.*608C>A (n.*608C>A) c.*1143C>A (n.*1143C>A) c.1696C>A (n.1696C>A) c.1316C>A (p.Pro439His) c.1364C>A (p.Pro455His) c.1460C>A (p.Pro487His) c.1406C>A (p.Pro469His) c.1367C>A (p.Pro456His) | |
18 | g.33738888C= | CA2294855729 | ASXL3 | c.1487C= (p.Pro496=) c.1484C= (p.Pro495=) c.*608C= (n.*608C=) c.*1143C= (n.*1143C=) c.1696C= (n.1696C=) c.1316C= (p.Pro439=) c.1364C= (p.Pro455=) c.1460C= (p.Pro487=) c.1406C= (p.Pro469=) c.1367C= (p.Pro456=) | |
18 | g.33738888C>G | CA402175562 | ASXL3 | c.1487C>G (p.Pro496Arg) c.1484C>G (p.Pro495Arg) c.*608C>G (n.*608C>G) c.*1143C>G (n.*1143C>G) c.1696C>G (n.1696C>G) c.1316C>G (p.Pro439Arg) c.1364C>G (p.Pro455Arg) c.1460C>G (p.Pro487Arg) c.1406C>G (p.Pro469Arg) c.1367C>G (p.Pro456Arg) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33738888C>T | CA8933760 | ASXL3 | c.1487C>T (p.Pro496Leu) c.1484C>T (p.Pro495Leu) c.*608C>T (n.*608C>T) c.*1143C>T (n.*1143C>T) c.1696C>T (n.1696C>T) c.1316C>T (p.Pro439Leu) c.1364C>T (p.Pro455Leu) c.1460C>T (p.Pro487Leu) c.1406C>T (p.Pro469Leu) c.1367C>T (p.Pro456Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33738889T>A | CA503768391 | ASXL3 | c.1488T>A (p.Pro496=) c.1485T>A (p.Pro495=) c.*609T>A (n.*609T>A) c.*1144T>A (n.*1144T>A) c.1697T>A (n.1697T>A) c.1317T>A (p.Pro439=) c.1365T>A (p.Pro455=) c.1461T>A (p.Pro487=) c.1407T>A (p.Pro469=) c.1368T>A (p.Pro456=) | |
18 | g.33738889T>C | CA503768389 | ASXL3 | c.1488T>C (p.Pro496=) c.1485T>C (p.Pro495=) c.*609T>C (n.*609T>C) c.*1144T>C (n.*1144T>C) c.1697T>C (n.1697T>C) c.1317T>C (p.Pro439=) c.1365T>C (p.Pro455=) c.1461T>C (p.Pro487=) c.1407T>C (p.Pro469=) c.1368T>C (p.Pro456=) | gnomAD v4 |
18 | g.33738889T>G | CA503768390 | ASXL3 | c.1488T>G (p.Pro496=) c.1485T>G (p.Pro495=) c.*609T>G (n.*609T>G) c.*1144T>G (n.*1144T>G) c.1697T>G (n.1697T>G) c.1317T>G (p.Pro439=) c.1365T>G (p.Pro455=) c.1461T>G (p.Pro487=) c.1407T>G (p.Pro469=) c.1368T>G (p.Pro456=) | |
18 | g.33738889_33738892dup | CA658791347 | ASXL3 | c.1488_1491dup (p.Asp498Ter) c.1485_1488dup (p.Asp497Ter) c.*609_*612dup (n.*609_*612dup) c.*1144_*1147dup (n.*1144_*1147dup) c.1697_1700dup (n.1697_1700dup) c.1317_1320dup (p.Asp441Ter) c.1365_1368dup (p.Asp457Ter) c.1461_1464dup (p.Asp489Ter) c.1407_1410dup (p.Asp471Ter) c.1368_1371dup (p.Asp458Ter) | |
18 | g.33738890G>A | CA402175568 | ASXL3 | c.1489G>A (p.Glu497Lys) c.1486G>A (p.Glu496Lys) c.*610G>A (n.*610G>A) c.*1145G>A (n.*1145G>A) c.1698G>A (n.1698G>A) c.1318G>A (p.Glu440Lys) c.1366G>A (p.Glu456Lys) c.1462G>A (p.Glu488Lys) c.1408G>A (p.Glu470Lys) c.1369G>A (p.Glu457Lys) | COSMIC COSMIC |
18 | g.33738890G>C | CA402175570 | ASXL3 | c.1489G>C (p.Glu497Gln) c.1486G>C (p.Glu496Gln) c.*610G>C (n.*610G>C) c.*1145G>C (n.*1145G>C) c.1698G>C (n.1698G>C) c.1318G>C (p.Glu440Gln) c.1366G>C (p.Glu456Gln) c.1462G>C (p.Glu488Gln) c.1408G>C (p.Glu470Gln) c.1369G>C (p.Glu457Gln) | |
18 | g.33738890G>T | CA402175566 | ASXL3 | c.1489G>T (p.Glu497Ter) c.1486G>T (p.Glu496Ter) c.*610G>T (n.*610G>T) c.*1145G>T (n.*1145G>T) c.1698G>T (n.1698G>T) c.1318G>T (p.Glu440Ter) c.1366G>T (p.Glu456Ter) c.1462G>T (p.Glu488Ter) c.1408G>T (p.Glu470Ter) c.1369G>T (p.Glu457Ter) | |
18 | g.33738891A>C | CA402175572 | ASXL3 | c.1490A>C (p.Glu497Ala) c.1487A>C (p.Glu496Ala) c.*611A>C (n.*611A>C) c.*1146A>C (n.*1146A>C) c.1699A>C (n.1699A>C) c.1319A>C (p.Glu440Ala) c.1367A>C (p.Glu456Ala) c.1463A>C (p.Glu488Ala) c.1409A>C (p.Glu470Ala) c.1370A>C (p.Glu457Ala) | |
18 | g.33738891A>G | CA402175576 | ASXL3 | c.1490A>G (p.Glu497Gly) c.1487A>G (p.Glu496Gly) c.*611A>G (n.*611A>G) c.*1146A>G (n.*1146A>G) c.1699A>G (n.1699A>G) c.1319A>G (p.Glu440Gly) c.1367A>G (p.Glu456Gly) c.1463A>G (p.Glu488Gly) c.1409A>G (p.Glu470Gly) c.1370A>G (p.Glu457Gly) | |
18 | g.33738891A>T | CA402175574 | ASXL3 | c.1490A>T (p.Glu497Val) c.1487A>T (p.Glu496Val) c.*611A>T (n.*611A>T) c.*1146A>T (n.*1146A>T) c.1699A>T (n.1699A>T) c.1319A>T (p.Glu440Val) c.1367A>T (p.Glu456Val) c.1463A>T (p.Glu488Val) c.1409A>T (p.Glu470Val) c.1370A>T (p.Glu457Val) | |
18 | g.33738892A>C | CA402175579 | ASXL3 | c.1491A>C (p.Glu497Asp) c.1488A>C (p.Glu496Asp) c.*612A>C (n.*612A>C) c.*1147A>C (n.*1147A>C) c.1700A>C (n.1700A>C) c.1320A>C (p.Glu440Asp) c.1368A>C (p.Glu456Asp) c.1464A>C (p.Glu488Asp) c.1410A>C (p.Glu470Asp) c.1371A>C (p.Glu457Asp) | |
18 | g.33738892A>G | CA503768393 | ASXL3 | c.1491A>G (p.Glu497=) c.1488A>G (p.Glu496=) c.*612A>G (n.*612A>G) c.*1147A>G (n.*1147A>G) c.1700A>G (n.1700A>G) c.1320A>G (p.Glu440=) c.1368A>G (p.Glu456=) c.1464A>G (p.Glu488=) c.1410A>G (p.Glu470=) c.1371A>G (p.Glu457=) | |
18 | g.33738892A>T | CA402175581 | ASXL3 | c.1491A>T (p.Glu497Asp) c.1488A>T (p.Glu496Asp) c.*612A>T (n.*612A>T) c.*1147A>T (n.*1147A>T) c.1700A>T (n.1700A>T) c.1320A>T (p.Glu440Asp) c.1368A>T (p.Glu456Asp) c.1464A>T (p.Glu488Asp) c.1410A>T (p.Glu470Asp) c.1371A>T (p.Glu457Asp) | |
18 | g.33738893G>A | CA402175582 | ASXL3 | c.1492G>A (p.Asp498Asn) c.1489G>A (p.Asp497Asn) c.*613G>A (n.*613G>A) c.*1148G>A (n.*1148G>A) c.1701G>A (n.1701G>A) c.1321G>A (p.Asp441Asn) c.1369G>A (p.Asp457Asn) c.1465G>A (p.Asp489Asn) c.1411G>A (p.Asp471Asn) c.1372G>A (p.Asp458Asn) | |
18 | g.33738893G>C | CA402175584 | ASXL3 | c.1492G>C (p.Asp498His) c.1489G>C (p.Asp497His) c.*613G>C (n.*613G>C) c.*1148G>C (n.*1148G>C) c.1701G>C (n.1701G>C) c.1321G>C (p.Asp441His) c.1369G>C (p.Asp457His) c.1465G>C (p.Asp489His) c.1411G>C (p.Asp471His) c.1372G>C (p.Asp458His) | |
18 | g.33738893G>T | CA402175586 | ASXL3 | c.1492G>T (p.Asp498Tyr) c.1489G>T (p.Asp497Tyr) c.*613G>T (n.*613G>T) c.*1148G>T (n.*1148G>T) c.1701G>T (n.1701G>T) c.1321G>T (p.Asp441Tyr) c.1369G>T (p.Asp457Tyr) c.1465G>T (p.Asp489Tyr) c.1411G>T (p.Asp471Tyr) c.1372G>T (p.Asp458Tyr) | |
18 | g.33738894A>C | CA402175589 | ASXL3 | c.1493A>C (p.Asp498Ala) c.1490A>C (p.Asp497Ala) c.*614A>C (n.*614A>C) c.*1149A>C (n.*1149A>C) c.1702A>C (n.1702A>C) c.1322A>C (p.Asp441Ala) c.1370A>C (p.Asp457Ala) c.1466A>C (p.Asp489Ala) c.1412A>C (p.Asp471Ala) c.1373A>C (p.Asp458Ala) | |
18 | g.33738894A>G | CA402175592 | ASXL3 | c.1493A>G (p.Asp498Gly) c.1490A>G (p.Asp497Gly) c.*614A>G (n.*614A>G) c.*1149A>G (n.*1149A>G) c.1702A>G (n.1702A>G) c.1322A>G (p.Asp441Gly) c.1370A>G (p.Asp457Gly) c.1466A>G (p.Asp489Gly) c.1412A>G (p.Asp471Gly) c.1373A>G (p.Asp458Gly) | gnomAD v4 |
18 | g.33738894A>T | CA402175593 | ASXL3 | c.1493A>T (p.Asp498Val) c.1490A>T (p.Asp497Val) c.*614A>T (n.*614A>T) c.*1149A>T (n.*1149A>T) c.1702A>T (n.1702A>T) c.1322A>T (p.Asp441Val) c.1370A>T (p.Asp457Val) c.1466A>T (p.Asp489Val) c.1412A>T (p.Asp471Val) c.1373A>T (p.Asp458Val) | |
18 | g.33738895T>A | CA8933761 | ASXL3 | c.1494T>A (p.Asp498Glu) c.1491T>A (p.Asp497Glu) c.*615T>A (n.*615T>A) c.*1150T>A (n.*1150T>A) c.1703T>A (n.1703T>A) c.1323T>A (p.Asp441Glu) c.1371T>A (p.Asp457Glu) c.1467T>A (p.Asp489Glu) c.1413T>A (p.Asp471Glu) c.1374T>A (p.Asp458Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33738895T>C | CA503768395 | ASXL3 | c.1494T>C (p.Asp498=) c.1491T>C (p.Asp497=) c.*615T>C (n.*615T>C) c.*1150T>C (n.*1150T>C) c.1703T>C (n.1703T>C) c.1323T>C (p.Asp441=) c.1371T>C (p.Asp457=) c.1467T>C (p.Asp489=) c.1413T>C (p.Asp471=) c.1374T>C (p.Asp458=) | |
18 | g.33738895T>G | CA402175596 | ASXL3 | c.1494T>G (p.Asp498Glu) c.1491T>G (p.Asp497Glu) c.*615T>G (n.*615T>G) c.*1150T>G (n.*1150T>G) c.1703T>G (n.1703T>G) c.1323T>G (p.Asp441Glu) c.1371T>G (p.Asp457Glu) c.1467T>G (p.Asp489Glu) c.1413T>G (p.Asp471Glu) c.1374T>G (p.Asp458Glu) | dbSNP |
18 | g.33738895T= | CA2294855730 | ASXL3 | c.1494T= (p.Asp498=) c.1491T= (p.Asp497=) c.*615T= (n.*615T=) c.*1150T= (n.*1150T=) c.1703T= (n.1703T=) c.1323T= (p.Asp441=) c.1371T= (p.Asp457=) c.1467T= (p.Asp489=) c.1413T= (p.Asp471=) c.1374T= (p.Asp458=) | |
18 | g.33738895dup | CA658791348 | ASXL3 | c.1494dup (p.Asn499Ter) c.1491dup (p.Asn498Ter) c.*615dup (n.*615dup) c.*1150dup (n.*1150dup) c.1703dup (n.1703dup) c.1323dup (p.Asn442Ter) c.1371dup (p.Asn458Ter) c.1467dup (p.Asn490Ter) c.1413dup (p.Asn472Ter) c.1374dup (p.Asn459Ter) | |
18 | g.33738896A= | CA2294855731 | ASXL3 | c.1495A= (p.Asn499=) c.1492A= (p.Asn498=) c.*616A= (n.*616A=) c.*1151A= (n.*1151A=) c.1704A= (n.1704A=) c.1324A= (p.Asn442=) c.1372A= (p.Asn458=) c.1468A= (p.Asn490=) c.1414A= (p.Asn472=) c.1375A= (p.Asn459=) | |
18 | g.33738896A>C | CA402175599 | ASXL3 | c.1495A>C (p.Asn499His) c.1492A>C (p.Asn498His) c.*616A>C (n.*616A>C) c.*1151A>C (n.*1151A>C) c.1704A>C (n.1704A>C) c.1324A>C (p.Asn442His) c.1372A>C (p.Asn458His) c.1468A>C (p.Asn490His) c.1414A>C (p.Asn472His) c.1375A>C (p.Asn459His) | |
18 | g.33738896A>G | CA402175602 | ASXL3 | c.1495A>G (p.Asn499Asp) c.1492A>G (p.Asn498Asp) c.*616A>G (n.*616A>G) c.*1151A>G (n.*1151A>G) c.1704A>G (n.1704A>G) c.1324A>G (p.Asn442Asp) c.1372A>G (p.Asn458Asp) c.1468A>G (p.Asn490Asp) c.1414A>G (p.Asn472Asp) c.1375A>G (p.Asn459Asp) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33738896A>T | CA402175604 | ASXL3 | c.1495A>T (p.Asn499Tyr) c.1492A>T (p.Asn498Tyr) c.*616A>T (n.*616A>T) c.*1151A>T (n.*1151A>T) c.1704A>T (n.1704A>T) c.1324A>T (p.Asn442Tyr) c.1372A>T (p.Asn458Tyr) c.1468A>T (p.Asn490Tyr) c.1414A>T (p.Asn472Tyr) c.1375A>T (p.Asn459Tyr) | |
18 | g.33738897A= | CA2294855732 | ASXL3 | c.1496A= (p.Asn499=) c.1493A= (p.Asn498=) c.*617A= (n.*617A=) c.*1152A= (n.*1152A=) c.1705A= (n.1705A=) c.1325A= (p.Asn442=) c.1373A= (p.Asn458=) c.1469A= (p.Asn490=) c.1415A= (p.Asn472=) c.1376A= (p.Asn459=) | |
18 | g.33738897A>C | CA402175607 | ASXL3 | c.1496A>C (p.Asn499Thr) c.1493A>C (p.Asn498Thr) c.*617A>C (n.*617A>C) c.*1152A>C (n.*1152A>C) c.1705A>C (n.1705A>C) c.1325A>C (p.Asn442Thr) c.1373A>C (p.Asn458Thr) c.1469A>C (p.Asn490Thr) c.1415A>C (p.Asn472Thr) c.1376A>C (p.Asn459Thr) | |
18 | g.33738897A>G | CA402175612 | ASXL3 | c.1496A>G (p.Asn499Ser) c.1493A>G (p.Asn498Ser) c.*617A>G (n.*617A>G) c.*1152A>G (n.*1152A>G) c.1705A>G (n.1705A>G) c.1325A>G (p.Asn442Ser) c.1373A>G (p.Asn458Ser) c.1469A>G (p.Asn490Ser) c.1415A>G (p.Asn472Ser) c.1376A>G (p.Asn459Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738897A>T | CA402175610 | ASXL3 | c.1496A>T (p.Asn499Ile) c.1493A>T (p.Asn498Ile) c.*617A>T (n.*617A>T) c.*1152A>T (n.*1152A>T) c.1705A>T (n.1705A>T) c.1325A>T (p.Asn442Ile) c.1373A>T (p.Asn458Ile) c.1469A>T (p.Asn490Ile) c.1415A>T (p.Asn472Ile) c.1376A>T (p.Asn459Ile) | |
18 | g.33738898C>A | CA402175614 | ASXL3 | c.1497C>A (p.Asn499Lys) c.1494C>A (p.Asn498Lys) c.*618C>A (n.*618C>A) c.*1153C>A (n.*1153C>A) c.1706C>A (n.1706C>A) c.1326C>A (p.Asn442Lys) c.1374C>A (p.Asn458Lys) c.1470C>A (p.Asn490Lys) c.1416C>A (p.Asn472Lys) c.1377C>A (p.Asn459Lys) | |
18 | g.33738898C= | CA2294855733 | ASXL3 | c.1497C= (p.Asn499=) c.1494C= (p.Asn498=) c.*618C= (n.*618C=) c.*1153C= (n.*1153C=) c.1706C= (n.1706C=) c.1326C= (p.Asn442=) c.1374C= (p.Asn458=) c.1470C= (p.Asn490=) c.1416C= (p.Asn472=) c.1377C= (p.Asn459=) | |
18 | g.33738898C>G | CA402175616 | ASXL3 | c.1497C>G (p.Asn499Lys) c.1494C>G (p.Asn498Lys) c.*618C>G (n.*618C>G) c.*1153C>G (n.*1153C>G) c.1706C>G (n.1706C>G) c.1326C>G (p.Asn442Lys) c.1374C>G (p.Asn458Lys) c.1470C>G (p.Asn490Lys) c.1416C>G (p.Asn472Lys) c.1377C>G (p.Asn459Lys) | |
18 | g.33738898C>T | CA8933762 | ASXL3 | c.1497C>T (p.Asn499=) c.1494C>T (p.Asn498=) c.*618C>T (n.*618C>T) c.*1153C>T (n.*1153C>T) c.1706C>T (n.1706C>T) c.1326C>T (p.Asn442=) c.1374C>T (p.Asn458=) c.1470C>T (p.Asn490=) c.1416C>T (p.Asn472=) c.1377C>T (p.Asn459=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738899T>A | CA402175620 | ASXL3 | c.1498T>A (p.Leu500Met) c.1495T>A (p.Leu499Met) c.*619T>A (n.*619T>A) c.*1154T>A (n.*1154T>A) c.1707T>A (n.1707T>A) c.1327T>A (p.Leu443Met) c.1375T>A (p.Leu459Met) c.1471T>A (p.Leu491Met) c.1417T>A (p.Leu473Met) c.1378T>A (p.Leu460Met) | |
18 | g.33738899T>C | CA503768399 | ASXL3 | c.1498T>C (p.Leu500=) c.1495T>C (p.Leu499=) c.*619T>C (n.*619T>C) c.*1154T>C (n.*1154T>C) c.1707T>C (n.1707T>C) c.1327T>C (p.Leu443=) c.1375T>C (p.Leu459=) c.1471T>C (p.Leu491=) c.1417T>C (p.Leu473=) c.1378T>C (p.Leu460=) | dbSNP |
18 | g.33738899T>G | CA402175622 | ASXL3 | c.1498T>G (p.Leu500Val) c.1495T>G (p.Leu499Val) c.*619T>G (n.*619T>G) c.*1154T>G (n.*1154T>G) c.1707T>G (n.1707T>G) c.1327T>G (p.Leu443Val) c.1375T>G (p.Leu459Val) c.1471T>G (p.Leu491Val) c.1417T>G (p.Leu473Val) c.1378T>G (p.Leu460Val) | |
18 | g.33738899T= | CA2294855734 | ASXL3 | c.1498T= (p.Leu500=) c.1495T= (p.Leu499=) c.*619T= (n.*619T=) c.*1154T= (n.*1154T=) c.1707T= (n.1707T=) c.1327T= (p.Leu443=) c.1375T= (p.Leu459=) c.1471T= (p.Leu491=) c.1417T= (p.Leu473=) c.1378T= (p.Leu460=) | |
18 | g.33738900dup | CA1139666019 | ASXL3 | c.1499dup (p.Leu500PhefsTer9) c.1496dup (p.Leu499PhefsTer9) c.*620dup (n.*620dup) c.*1155dup (n.*1155dup) c.1708dup (n.1708dup) c.1328dup (p.Leu443PhefsTer9) c.1376dup (p.Leu459PhefsTer9) c.1472dup (p.Leu491PhefsTer9) c.1418dup (p.Leu473PhefsTer9) c.1379dup (p.Leu460PhefsTer9) | ClinVar dbSNP |
18 | g.33738900T>A | CA402175625 | ASXL3 | c.1499T>A (p.Leu500Ter) c.1496T>A (p.Leu499Ter) c.*620T>A (n.*620T>A) c.*1155T>A (n.*1155T>A) c.1708T>A (n.1708T>A) c.1328T>A (p.Leu443Ter) c.1376T>A (p.Leu459Ter) c.1472T>A (p.Leu491Ter) c.1418T>A (p.Leu473Ter) c.1379T>A (p.Leu460Ter) | |
18 | g.33738900T>C | CA402175627 | ASXL3 | c.1499T>C (p.Leu500Ser) c.1496T>C (p.Leu499Ser) c.*620T>C (n.*620T>C) c.*1155T>C (n.*1155T>C) c.1708T>C (n.1708T>C) c.1328T>C (p.Leu443Ser) c.1376T>C (p.Leu459Ser) c.1472T>C (p.Leu491Ser) c.1418T>C (p.Leu473Ser) c.1379T>C (p.Leu460Ser) | |
18 | g.33738900T>G | CA402175629 | ASXL3 | c.1499T>G (p.Leu500Trp) c.1496T>G (p.Leu499Trp) c.*620T>G (n.*620T>G) c.*1155T>G (n.*1155T>G) c.1708T>G (n.1708T>G) c.1328T>G (p.Leu443Trp) c.1376T>G (p.Leu459Trp) c.1472T>G (p.Leu491Trp) c.1418T>G (p.Leu473Trp) c.1379T>G (p.Leu460Trp) | |
18 | g.33738901G>A | CA503768401 | ASXL3 | c.1500G>A (p.Leu500=) c.1497G>A (p.Leu499=) c.*621G>A (n.*621G>A) c.*1156G>A (n.*1156G>A) c.1709G>A (n.1709G>A) c.1329G>A (p.Leu443=) c.1377G>A (p.Leu459=) c.1473G>A (p.Leu491=) c.1419G>A (p.Leu473=) c.1380G>A (p.Leu460=) | |
18 | g.33738901G>C | CA402175631 | ASXL3 | c.1500G>C (p.Leu500Phe) c.1497G>C (p.Leu499Phe) c.*621G>C (n.*621G>C) c.*1156G>C (n.*1156G>C) c.1709G>C (n.1709G>C) c.1329G>C (p.Leu443Phe) c.1377G>C (p.Leu459Phe) c.1473G>C (p.Leu491Phe) c.1419G>C (p.Leu473Phe) c.1380G>C (p.Leu460Phe) | |
18 | g.33738901G>T | CA402175633 | ASXL3 | c.1500G>T (p.Leu500Phe) c.1497G>T (p.Leu499Phe) c.*621G>T (n.*621G>T) c.*1156G>T (n.*1156G>T) c.1709G>T (n.1709G>T) c.1329G>T (p.Leu443Phe) c.1377G>T (p.Leu459Phe) c.1473G>T (p.Leu491Phe) c.1419G>T (p.Leu473Phe) c.1380G>T (p.Leu460Phe) | |
18 | g.33738902G>A | CA402175644 | ASXL3 | c.1501G>A (p.Glu501Lys) c.1498G>A (p.Glu500Lys) c.*622G>A (n.*622G>A) c.*1157G>A (n.*1157G>A) c.1710G>A (n.1710G>A) c.1330G>A (p.Glu444Lys) c.1378G>A (p.Glu460Lys) c.1474G>A (p.Glu492Lys) c.1420G>A (p.Glu474Lys) c.1381G>A (p.Glu461Lys) | |
18 | g.33738902G>C | CA402175642 | ASXL3 | c.1501G>C (p.Glu501Gln) c.1498G>C (p.Glu500Gln) c.*622G>C (n.*622G>C) c.*1157G>C (n.*1157G>C) c.1710G>C (n.1710G>C) c.1330G>C (p.Glu444Gln) c.1378G>C (p.Glu460Gln) c.1474G>C (p.Glu492Gln) c.1420G>C (p.Glu474Gln) c.1381G>C (p.Glu461Gln) | |
18 | g.33738902G>T | CA402175640 | ASXL3 | c.1501G>T (p.Glu501Ter) c.1498G>T (p.Glu500Ter) c.*622G>T (n.*622G>T) c.*1157G>T (n.*1157G>T) c.1710G>T (n.1710G>T) c.1330G>T (p.Glu444Ter) c.1378G>T (p.Glu460Ter) c.1474G>T (p.Glu492Ter) c.1420G>T (p.Glu474Ter) c.1381G>T (p.Glu461Ter) | ClinVar |
18 | g.33738902_33738903delinsGA | CA2294855735 | ASXL3 | c.1501_1502delinsGA (p.Glu501=) c.1498_1499delinsGA (p.Glu500=) c.*622_*623delinsGA (n.*622_*623delinsGA) c.*1157_*1158delinsGA (n.*1157_*1158delinsGA) c.1710_1711delinsGA (n.1710_1711delinsGA) c.1330_1331delinsGA (p.Glu444=) c.1378_1379delinsGA (p.Glu460=) c.1474_1475delinsGA (p.Glu492=) c.1420_1421delinsGA (p.Glu474=) c.1381_1382delinsGA (p.Glu461=) | |
18 | g.33738903A>C | CA402175646 | ASXL3 | c.1502A>C (p.Glu501Ala) c.1499A>C (p.Glu500Ala) c.*623A>C (n.*623A>C) c.*1158A>C (n.*1158A>C) c.1711A>C (n.1711A>C) c.1331A>C (p.Glu444Ala) c.1379A>C (p.Glu460Ala) c.1475A>C (p.Glu492Ala) c.1421A>C (p.Glu474Ala) c.1382A>C (p.Glu461Ala) | |
18 | g.33738903A>G | CA402175647 | ASXL3 | c.1502A>G (p.Glu501Gly) c.1499A>G (p.Glu500Gly) c.*623A>G (n.*623A>G) c.*1158A>G (n.*1158A>G) c.1711A>G (n.1711A>G) c.1331A>G (p.Glu444Gly) c.1379A>G (p.Glu460Gly) c.1475A>G (p.Glu492Gly) c.1421A>G (p.Glu474Gly) c.1382A>G (p.Glu461Gly) | |
18 | g.33738903A>T | CA402175650 | ASXL3 | c.1502A>T (p.Glu501Val) c.1499A>T (p.Glu500Val) c.*623A>T (n.*623A>T) c.*1158A>T (n.*1158A>T) c.1711A>T (n.1711A>T) c.1331A>T (p.Glu444Val) c.1379A>T (p.Glu460Val) c.1475A>T (p.Glu492Val) c.1421A>T (p.Glu474Val) c.1382A>T (p.Glu461Val) | |
18 | g.33738904del | CA658824627 | ASXL3 | c.1503del (p.Glu501AspfsTer5) c.1500del (p.Glu500AspfsTer5) c.*624del (n.*624del) c.*1159del (n.*1159del) c.1712del (n.1712del) c.1332del (p.Glu444AspfsTer5) c.1380del (p.Glu460AspfsTer5) c.1476del (p.Glu492AspfsTer5) c.1422del (p.Glu474AspfsTer5) c.1383del (p.Glu461AspfsTer5) | ClinVar dbSNP |
18 | g.33738904A= | CA2294855736 | ASXL3 | c.1503A= (p.Glu501=) c.1500A= (p.Glu500=) c.*624A= (n.*624A=) c.*1159A= (n.*1159A=) c.1712A= (n.1712A=) c.1332A= (p.Glu444=) c.1380A= (p.Glu460=) c.1476A= (p.Glu492=) c.1422A= (p.Glu474=) c.1383A= (p.Glu461=) | |
18 | g.33738904A>C | CA402175653 | ASXL3 | c.1503A>C (p.Glu501Asp) c.1500A>C (p.Glu500Asp) c.*624A>C (n.*624A>C) c.*1159A>C (n.*1159A>C) c.1712A>C (n.1712A>C) c.1332A>C (p.Glu444Asp) c.1380A>C (p.Glu460Asp) c.1476A>C (p.Glu492Asp) c.1422A>C (p.Glu474Asp) c.1383A>C (p.Glu461Asp) | |
18 | g.33738904A>G | CA503768406 | ASXL3 | c.1503A>G (p.Glu501=) c.1500A>G (p.Glu500=) c.*624A>G (n.*624A>G) c.*1159A>G (n.*1159A>G) c.1712A>G (n.1712A>G) c.1332A>G (p.Glu444=) c.1380A>G (p.Glu460=) c.1476A>G (p.Glu492=) c.1422A>G (p.Glu474=) c.1383A>G (p.Glu461=) | dbSNP gnomAD v4 |
18 | g.33738904A>T | CA402175659 | ASXL3 | c.1503A>T (p.Glu501Asp) c.1500A>T (p.Glu500Asp) c.*624A>T (n.*624A>T) c.*1159A>T (n.*1159A>T) c.1712A>T (n.1712A>T) c.1332A>T (p.Glu444Asp) c.1380A>T (p.Glu460Asp) c.1476A>T (p.Glu492Asp) c.1422A>T (p.Glu474Asp) c.1383A>T (p.Glu461Asp) | |
18 | g.33738905T>A | CA402175666 | ASXL3 | c.1504T>A (p.Ser502Thr) c.1501T>A (p.Ser501Thr) c.*625T>A (n.*625T>A) c.*1160T>A (n.*1160T>A) c.1713T>A (n.1713T>A) c.1333T>A (p.Ser445Thr) c.1381T>A (p.Ser461Thr) c.1477T>A (p.Ser493Thr) c.1423T>A (p.Ser475Thr) c.1384T>A (p.Ser462Thr) | |
18 | g.33738905T>C | CA402175664 | ASXL3 | c.1504T>C (p.Ser502Pro) c.1501T>C (p.Ser501Pro) c.*625T>C (n.*625T>C) c.*1160T>C (n.*1160T>C) c.1713T>C (n.1713T>C) c.1333T>C (p.Ser445Pro) c.1381T>C (p.Ser461Pro) c.1477T>C (p.Ser493Pro) c.1423T>C (p.Ser475Pro) c.1384T>C (p.Ser462Pro) | |
18 | g.33738905T>G | CA402175662 | ASXL3 | c.1504T>G (p.Ser502Ala) c.1501T>G (p.Ser501Ala) c.*625T>G (n.*625T>G) c.*1160T>G (n.*1160T>G) c.1713T>G (n.1713T>G) c.1333T>G (p.Ser445Ala) c.1381T>G (p.Ser461Ala) c.1477T>G (p.Ser493Ala) c.1423T>G (p.Ser475Ala) c.1384T>G (p.Ser462Ala) | |
18 | g.33738906C>A | CA402175669 | ASXL3 | c.1505C>A (p.Ser502Tyr) c.1502C>A (p.Ser501Tyr) c.*626C>A (n.*626C>A) c.*1161C>A (n.*1161C>A) c.1714C>A (n.1714C>A) c.1334C>A (p.Ser445Tyr) c.1382C>A (p.Ser461Tyr) c.1478C>A (p.Ser493Tyr) c.1424C>A (p.Ser475Tyr) c.1385C>A (p.Ser462Tyr) | |
18 | g.33738906C>G | CA402175671 | ASXL3 | c.1505C>G (p.Ser502Cys) c.1502C>G (p.Ser501Cys) c.*626C>G (n.*626C>G) c.*1161C>G (n.*1161C>G) c.1714C>G (n.1714C>G) c.1334C>G (p.Ser445Cys) c.1382C>G (p.Ser461Cys) c.1478C>G (p.Ser493Cys) c.1424C>G (p.Ser475Cys) c.1385C>G (p.Ser462Cys) | |
18 | g.33738906C>T | CA402175673 | ASXL3 | c.1505C>T (p.Ser502Phe) c.1502C>T (p.Ser501Phe) c.*626C>T (n.*626C>T) c.*1161C>T (n.*1161C>T) c.1714C>T (n.1714C>T) c.1334C>T (p.Ser445Phe) c.1382C>T (p.Ser461Phe) c.1478C>T (p.Ser493Phe) c.1424C>T (p.Ser475Phe) c.1385C>T (p.Ser462Phe) | |
18 | g.33738907C>A | CA503768410 | ASXL3 | c.1506C>A (p.Ser502=) c.1503C>A (p.Ser501=) c.*627C>A (n.*627C>A) c.*1162C>A (n.*1162C>A) c.1715C>A (n.1715C>A) c.1335C>A (p.Ser445=) c.1383C>A (p.Ser461=) c.1479C>A (p.Ser493=) c.1425C>A (p.Ser475=) c.1386C>A (p.Ser462=) | COSMIC COSMIC |
18 | g.33738907C>G | CA503768411 | ASXL3 | c.1506C>G (p.Ser502=) c.1503C>G (p.Ser501=) c.*627C>G (n.*627C>G) c.*1162C>G (n.*1162C>G) c.1715C>G (n.1715C>G) c.1335C>G (p.Ser445=) c.1383C>G (p.Ser461=) c.1479C>G (p.Ser493=) c.1425C>G (p.Ser475=) c.1386C>G (p.Ser462=) | |
18 | g.33738907C>T | CA503768412 | ASXL3 | c.1506C>T (p.Ser502=) c.1503C>T (p.Ser501=) c.*627C>T (n.*627C>T) c.*1162C>T (n.*1162C>T) c.1715C>T (n.1715C>T) c.1335C>T (p.Ser445=) c.1383C>T (p.Ser461=) c.1479C>T (p.Ser493=) c.1425C>T (p.Ser475=) c.1386C>T (p.Ser462=) | |
18 | g.33738908T>A | CA402175677 | ASXL3 | c.1507T>A (p.Cys503Ser) c.1504T>A (p.Cys502Ser) c.*628T>A (n.*628T>A) c.*1163T>A (n.*1163T>A) c.1716T>A (n.1716T>A) c.1336T>A (p.Cys446Ser) c.1384T>A (p.Cys462Ser) c.1480T>A (p.Cys494Ser) c.1426T>A (p.Cys476Ser) c.1387T>A (p.Cys463Ser) | |
18 | g.33738908T>C | CA8933763 | ASXL3 | c.1507T>C (p.Cys503Arg) c.1504T>C (p.Cys502Arg) c.*628T>C (n.*628T>C) c.*1163T>C (n.*1163T>C) c.1716T>C (n.1716T>C) c.1336T>C (p.Cys446Arg) c.1384T>C (p.Cys462Arg) c.1480T>C (p.Cys494Arg) c.1426T>C (p.Cys476Arg) c.1387T>C (p.Cys463Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738908T>G | CA402175681 | ASXL3 | c.1507T>G (p.Cys503Gly) c.1504T>G (p.Cys502Gly) c.*628T>G (n.*628T>G) c.*1163T>G (n.*1163T>G) c.1716T>G (n.1716T>G) c.1336T>G (p.Cys446Gly) c.1384T>G (p.Cys462Gly) c.1480T>G (p.Cys494Gly) c.1426T>G (p.Cys476Gly) c.1387T>G (p.Cys463Gly) | |
18 | g.33738908T= | CA2294855737 | ASXL3 | c.1507T= (p.Cys503=) c.1504T= (p.Cys502=) c.*628T= (n.*628T=) c.*1163T= (n.*1163T=) c.1716T= (n.1716T=) c.1336T= (p.Cys446=) c.1384T= (p.Cys462=) c.1480T= (p.Cys494=) c.1426T= (p.Cys476=) c.1387T= (p.Cys463=) | |
18 | g.33738909_33738912dup | CA2695227381 | ASXL3 | c.1508_1511dup (p.Met505CysfsTer5) c.1505_1508dup (p.Met504CysfsTer5) c.*629_*632dup (n.*629_*632dup) c.*1164_*1167dup (n.*1164_*1167dup) c.1717_1720dup (n.1717_1720dup) c.1337_1340dup (p.Met448CysfsTer5) c.1385_1388dup (p.Met464CysfsTer5) c.1481_1484dup (p.Met496CysfsTer5) c.1427_1430dup (p.Met478CysfsTer5) c.1388_1391dup (p.Met465CysfsTer5) | |
18 | g.33738909G>A | CA402175684 | ASXL3 | c.1508G>A (p.Cys503Tyr) c.1505G>A (p.Cys502Tyr) c.*629G>A (n.*629G>A) c.*1164G>A (n.*1164G>A) c.1717G>A (n.1717G>A) c.1337G>A (p.Cys446Tyr) c.1385G>A (p.Cys462Tyr) c.1481G>A (p.Cys494Tyr) c.1427G>A (p.Cys476Tyr) c.1388G>A (p.Cys463Tyr) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33738909G>C | CA402175689 | ASXL3 | c.1508G>C (p.Cys503Ser) c.1505G>C (p.Cys502Ser) c.*629G>C (n.*629G>C) c.*1164G>C (n.*1164G>C) c.1717G>C (n.1717G>C) c.1337G>C (p.Cys446Ser) c.1385G>C (p.Cys462Ser) c.1481G>C (p.Cys494Ser) c.1427G>C (p.Cys476Ser) c.1388G>C (p.Cys463Ser) | |
18 | g.33738909G= | CA2294855738 | ASXL3 | c.1508G= (p.Cys503=) c.1505G= (p.Cys502=) c.*629G= (n.*629G=) c.*1164G= (n.*1164G=) c.1717G= (n.1717G=) c.1337G= (p.Cys446=) c.1385G= (p.Cys462=) c.1481G= (p.Cys494=) c.1427G= (p.Cys476=) c.1388G= (p.Cys463=) | |
18 | g.33738909G>T | CA402175686 | ASXL3 | c.1508G>T (p.Cys503Phe) c.1505G>T (p.Cys502Phe) c.*629G>T (n.*629G>T) c.*1164G>T (n.*1164G>T) c.1717G>T (n.1717G>T) c.1337G>T (p.Cys446Phe) c.1385G>T (p.Cys462Phe) c.1481G>T (p.Cys494Phe) c.1427G>T (p.Cys476Phe) c.1388G>T (p.Cys463Phe) | gnomAD v4 |
18 | g.33738910T>A | CA402175692 | ASXL3 | c.1509T>A (p.Cys503Ter) c.1506T>A (p.Cys502Ter) c.*630T>A (n.*630T>A) c.*1165T>A (n.*1165T>A) c.1718T>A (n.1718T>A) c.1338T>A (p.Cys446Ter) c.1386T>A (p.Cys462Ter) c.1482T>A (p.Cys494Ter) c.1428T>A (p.Cys476Ter) c.1389T>A (p.Cys463Ter) | |
18 | g.33738910T>C | CA503768415 | ASXL3 | c.1509T>C (p.Cys503=) c.1506T>C (p.Cys502=) c.*630T>C (n.*630T>C) c.*1165T>C (n.*1165T>C) c.1718T>C (n.1718T>C) c.1338T>C (p.Cys446=) c.1386T>C (p.Cys462=) c.1482T>C (p.Cys494=) c.1428T>C (p.Cys476=) c.1389T>C (p.Cys463=) | |
18 | g.33738910T>G | CA402175694 | ASXL3 | c.1509T>G (p.Cys503Trp) c.1506T>G (p.Cys502Trp) c.*630T>G (n.*630T>G) c.*1165T>G (n.*1165T>G) c.1718T>G (n.1718T>G) c.1338T>G (p.Cys446Trp) c.1386T>G (p.Cys462Trp) c.1482T>G (p.Cys494Trp) c.1428T>G (p.Cys476Trp) c.1389T>G (p.Cys463Trp) | |
18 | g.33738911G>A | CA402175697 | ASXL3 | c.1510G>A (p.Val504Ile) c.1507G>A (p.Val503Ile) c.*631G>A (n.*631G>A) c.*1166G>A (n.*1166G>A) c.1719G>A (n.1719G>A) c.1339G>A (p.Val447Ile) c.1387G>A (p.Val463Ile) c.1483G>A (p.Val495Ile) c.1429G>A (p.Val477Ile) c.1390G>A (p.Val464Ile) | |
18 | g.33738911G>C | CA402175699 | ASXL3 | c.1510G>C (p.Val504Leu) c.1507G>C (p.Val503Leu) c.*631G>C (n.*631G>C) c.*1166G>C (n.*1166G>C) c.1719G>C (n.1719G>C) c.1339G>C (p.Val447Leu) c.1387G>C (p.Val463Leu) c.1483G>C (p.Val495Leu) c.1429G>C (p.Val477Leu) c.1390G>C (p.Val464Leu) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33738911G= | CA2294855739 | ASXL3 | c.1510G= (p.Val504=) c.1507G= (p.Val503=) c.*631G= (n.*631G=) c.*1166G= (n.*1166G=) c.1719G= (n.1719G=) c.1339G= (p.Val447=) c.1387G= (p.Val463=) c.1483G= (p.Val495=) c.1429G= (p.Val477=) c.1390G= (p.Val464=) | |
18 | g.33738911G>T | CA402175703 | ASXL3 | c.1510G>T (p.Val504Phe) c.1507G>T (p.Val503Phe) c.*631G>T (n.*631G>T) c.*1166G>T (n.*1166G>T) c.1719G>T (n.1719G>T) c.1339G>T (p.Val447Phe) c.1387G>T (p.Val463Phe) c.1483G>T (p.Val495Phe) c.1429G>T (p.Val477Phe) c.1390G>T (p.Val464Phe) | |
18 | g.33738912T>A | CA402175705 | ASXL3 | c.1511T>A (p.Val504Asp) c.1508T>A (p.Val503Asp) c.*632T>A (n.*632T>A) c.*1167T>A (n.*1167T>A) c.1720T>A (n.1720T>A) c.1340T>A (p.Val447Asp) c.1388T>A (p.Val463Asp) c.1484T>A (p.Val495Asp) c.1430T>A (p.Val477Asp) c.1391T>A (p.Val464Asp) | |
18 | g.33738912T>C | CA402175706 | ASXL3 | c.1511T>C (p.Val504Ala) c.1508T>C (p.Val503Ala) c.*632T>C (n.*632T>C) c.*1167T>C (n.*1167T>C) c.1720T>C (n.1720T>C) c.1340T>C (p.Val447Ala) c.1388T>C (p.Val463Ala) c.1484T>C (p.Val495Ala) c.1430T>C (p.Val477Ala) c.1391T>C (p.Val464Ala) | |
18 | g.33738912T>G | CA8933764 | ASXL3 | c.1511T>G (p.Val504Gly) c.1508T>G (p.Val503Gly) c.*632T>G (n.*632T>G) c.*1167T>G (n.*1167T>G) c.1720T>G (n.1720T>G) c.1340T>G (p.Val447Gly) c.1388T>G (p.Val463Gly) c.1484T>G (p.Val495Gly) c.1430T>G (p.Val477Gly) c.1391T>G (p.Val464Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738912T= | CA2294855740 | ASXL3 | c.1511T= (p.Val504=) c.1508T= (p.Val503=) c.*632T= (n.*632T=) c.*1167T= (n.*1167T=) c.1720T= (n.1720T=) c.1340T= (p.Val447=) c.1388T= (p.Val463=) c.1484T= (p.Val495=) c.1430T= (p.Val477=) c.1391T= (p.Val464=) | |
18 | g.33738913T>A | CA503768419 | ASXL3 | c.1512T>A (p.Val504=) c.1509T>A (p.Val503=) c.*633T>A (n.*633T>A) c.*1168T>A (n.*1168T>A) c.1721T>A (n.1721T>A) c.1341T>A (p.Val447=) c.1389T>A (p.Val463=) c.1485T>A (p.Val495=) c.1431T>A (p.Val477=) c.1392T>A (p.Val464=) | |
18 | g.33738913T>C | CA503768420 | ASXL3 | c.1512T>C (p.Val504=) c.1509T>C (p.Val503=) c.*633T>C (n.*633T>C) c.*1168T>C (n.*1168T>C) c.1721T>C (n.1721T>C) c.1341T>C (p.Val447=) c.1389T>C (p.Val463=) c.1485T>C (p.Val495=) c.1431T>C (p.Val477=) c.1392T>C (p.Val464=) | |
18 | g.33738913T>G | CA503768421 | ASXL3 | c.1512T>G (p.Val504=) c.1509T>G (p.Val503=) c.*633T>G (n.*633T>G) c.*1168T>G (n.*1168T>G) c.1721T>G (n.1721T>G) c.1341T>G (p.Val447=) c.1389T>G (p.Val463=) c.1485T>G (p.Val495=) c.1431T>G (p.Val477=) c.1392T>G (p.Val464=) | |
18 | g.33738914A= | CA2294855741 | ASXL3 | c.1513A= (p.Met505=) c.1510A= (p.Met504=) c.*634A= (n.*634A=) c.*1169A= (n.*1169A=) c.1722A= (n.1722A=) c.1342A= (p.Met448=) c.1390A= (p.Met464=) c.1486A= (p.Met496=) c.1432A= (p.Met478=) c.1393A= (p.Met465=) | |
18 | g.33738914A>C | CA402175712 | ASXL3 | c.1513A>C (p.Met505Leu) c.1510A>C (p.Met504Leu) c.*634A>C (n.*634A>C) c.*1169A>C (n.*1169A>C) c.1722A>C (n.1722A>C) c.1342A>C (p.Met448Leu) c.1390A>C (p.Met464Leu) c.1486A>C (p.Met496Leu) c.1432A>C (p.Met478Leu) c.1393A>C (p.Met465Leu) | |
18 | g.33738914A>G | CA8933765 | ASXL3 | c.1513A>G (p.Met505Val) c.1510A>G (p.Met504Val) c.*634A>G (n.*634A>G) c.*1169A>G (n.*1169A>G) c.1722A>G (n.1722A>G) c.1342A>G (p.Met448Val) c.1390A>G (p.Met464Val) c.1486A>G (p.Met496Val) c.1432A>G (p.Met478Val) c.1393A>G (p.Met465Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738914A>T | CA402175716 | ASXL3 | c.1513A>T (p.Met505Leu) c.1510A>T (p.Met504Leu) c.*634A>T (n.*634A>T) c.*1169A>T (n.*1169A>T) c.1722A>T (n.1722A>T) c.1342A>T (p.Met448Leu) c.1390A>T (p.Met464Leu) c.1486A>T (p.Met496Leu) c.1432A>T (p.Met478Leu) c.1393A>T (p.Met465Leu) | |
18 | g.33738920_33738926del | CA2739291098 | ASXL3 | c.1519_1525del (p.Asn507PhefsTer2) c.1516_1522del (p.Asn506PhefsTer2) c.*640_*646del (n.*640_*646del) c.*1175_*1181del (n.*1175_*1181del) c.1728_1734del (n.1728_1734del) c.1348_1354del (p.Asn450PhefsTer2) c.1396_1402del (p.Asn466PhefsTer2) c.1492_1498del (p.Asn498PhefsTer2) c.1438_1444del (p.Asn480PhefsTer2) c.1399_1405del (p.Asn467PhefsTer2) | |
18 | g.33738915T>A | CA402175722 | ASXL3 | c.1514T>A (p.Met505Lys) c.1511T>A (p.Met504Lys) c.*635T>A (n.*635T>A) c.*1170T>A (n.*1170T>A) c.1723T>A (n.1723T>A) c.1343T>A (p.Met448Lys) c.1391T>A (p.Met464Lys) c.1487T>A (p.Met496Lys) c.1433T>A (p.Met478Lys) c.1394T>A (p.Met465Lys) | |
18 | g.33738915T>C | CA8933766 | ASXL3 | c.1514T>C (p.Met505Thr) c.1511T>C (p.Met504Thr) c.*635T>C (n.*635T>C) c.*1170T>C (n.*1170T>C) c.1723T>C (n.1723T>C) c.1343T>C (p.Met448Thr) c.1391T>C (p.Met464Thr) c.1487T>C (p.Met496Thr) c.1433T>C (p.Met478Thr) c.1394T>C (p.Met465Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33738915T>G | CA402175719 | ASXL3 | c.1514T>G (p.Met505Arg) c.1511T>G (p.Met504Arg) c.*635T>G (n.*635T>G) c.*1170T>G (n.*1170T>G) c.1723T>G (n.1723T>G) c.1343T>G (p.Met448Arg) c.1391T>G (p.Met464Arg) c.1487T>G (p.Met496Arg) c.1433T>G (p.Met478Arg) c.1394T>G (p.Met465Arg) | gnomAD v4 |
18 | g.33738915T= | CA2294855742 | ASXL3 | c.1514T= (p.Met505=) c.1511T= (p.Met504=) c.*635T= (n.*635T=) c.*1170T= (n.*1170T=) c.1723T= (n.1723T=) c.1343T= (p.Met448=) c.1391T= (p.Met464=) c.1487T= (p.Met496=) c.1433T= (p.Met478=) c.1394T= (p.Met465=) | |
18 | g.33738916G>A | CA402175727 | ASXL3 | c.1515G>A (p.Met505Ile) c.1512G>A (p.Met504Ile) c.*636G>A (n.*636G>A) c.*1171G>A (n.*1171G>A) c.1724G>A (n.1724G>A) c.1344G>A (p.Met448Ile) c.1392G>A (p.Met464Ile) c.1488G>A (p.Met496Ile) c.1434G>A (p.Met478Ile) c.1395G>A (p.Met465Ile) | COSMIC COSMIC |
18 | g.33738916G>C | CA402175725 | ASXL3 | c.1515G>C (p.Met505Ile) c.1512G>C (p.Met504Ile) c.*636G>C (n.*636G>C) c.*1171G>C (n.*1171G>C) c.1724G>C (n.1724G>C) c.1344G>C (p.Met448Ile) c.1392G>C (p.Met464Ile) c.1488G>C (p.Met496Ile) c.1434G>C (p.Met478Ile) c.1395G>C (p.Met465Ile) | |
18 | g.33738916G>T | CA402175729 | ASXL3 | c.1515G>T (p.Met505Ile) c.1512G>T (p.Met504Ile) c.*636G>T (n.*636G>T) c.*1171G>T (n.*1171G>T) c.1724G>T (n.1724G>T) c.1344G>T (p.Met448Ile) c.1392G>T (p.Met464Ile) c.1488G>T (p.Met496Ile) c.1434G>T (p.Met478Ile) c.1395G>T (p.Met465Ile) | |
18 | g.33738917A>C | CA402175733 | ASXL3 | c.1516A>C (p.Met506Leu) c.1513A>C (p.Met505Leu) c.*637A>C (n.*637A>C) c.*1172A>C (n.*1172A>C) c.1725A>C (n.1725A>C) c.1345A>C (p.Met449Leu) c.1393A>C (p.Met465Leu) c.1489A>C (p.Met497Leu) c.1435A>C (p.Met479Leu) c.1396A>C (p.Met466Leu) | |
18 | g.33738917A>G | CA402175737 | ASXL3 | c.1516A>G (p.Met506Val) c.1513A>G (p.Met505Val) c.*637A>G (n.*637A>G) c.*1172A>G (n.*1172A>G) c.1725A>G (n.1725A>G) c.1345A>G (p.Met449Val) c.1393A>G (p.Met465Val) c.1489A>G (p.Met497Val) c.1435A>G (p.Met479Val) c.1396A>G (p.Met466Val) | |
18 | g.33738917A>T | CA402175735 | ASXL3 | c.1516A>T (p.Met506Leu) c.1513A>T (p.Met505Leu) c.*637A>T (n.*637A>T) c.*1172A>T (n.*1172A>T) c.1725A>T (n.1725A>T) c.1345A>T (p.Met449Leu) c.1393A>T (p.Met465Leu) c.1489A>T (p.Met497Leu) c.1435A>T (p.Met479Leu) c.1396A>T (p.Met466Leu) | gnomAD v4 |
18 | g.33738918T>A | CA402175740 | ASXL3 | c.1517T>A (p.Met506Lys) c.1514T>A (p.Met505Lys) c.*638T>A (n.*638T>A) c.*1173T>A (n.*1173T>A) c.1726T>A (n.1726T>A) c.1346T>A (p.Met449Lys) c.1394T>A (p.Met465Lys) c.1490T>A (p.Met497Lys) c.1436T>A (p.Met479Lys) c.1397T>A (p.Met466Lys) | |
18 | g.33738918T>C | CA402175742 | ASXL3 | c.1517T>C (p.Met506Thr) c.1514T>C (p.Met505Thr) c.*638T>C (n.*638T>C) c.*1173T>C (n.*1173T>C) c.1726T>C (n.1726T>C) c.1346T>C (p.Met449Thr) c.1394T>C (p.Met465Thr) c.1490T>C (p.Met497Thr) c.1436T>C (p.Met479Thr) c.1397T>C (p.Met466Thr) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33738918T>G | CA402175741 | ASXL3 | c.1517T>G (p.Met506Arg) c.1514T>G (p.Met505Arg) c.*638T>G (n.*638T>G) c.*1173T>G (n.*1173T>G) c.1726T>G (n.1726T>G) c.1346T>G (p.Met449Arg) c.1394T>G (p.Met465Arg) c.1490T>G (p.Met497Arg) c.1436T>G (p.Met479Arg) c.1397T>G (p.Met466Arg) | |
18 | g.33738918T= | CA2294855743 | ASXL3 | c.1517T= (p.Met506=) c.1514T= (p.Met505=) c.*638T= (n.*638T=) c.*1173T= (n.*1173T=) c.1726T= (n.1726T=) c.1346T= (p.Met449=) c.1394T= (p.Met465=) c.1490T= (p.Met497=) c.1436T= (p.Met479=) c.1397T= (p.Met466=) | |
18 | g.33738919G>A | CA297786737 | ASXL3 | c.1518G>A (p.Met506Ile) c.1515G>A (p.Met505Ile) c.*639G>A (n.*639G>A) c.*1174G>A (n.*1174G>A) c.1727G>A (n.1727G>A) c.1347G>A (p.Met449Ile) c.1395G>A (p.Met465Ile) c.1491G>A (p.Met497Ile) c.1437G>A (p.Met479Ile) c.1398G>A (p.Met466Ile) | dbSNP |
18 | g.33738919G>C | CA402175743 | ASXL3 | c.1518G>C (p.Met506Ile) c.1515G>C (p.Met505Ile) c.*639G>C (n.*639G>C) c.*1174G>C (n.*1174G>C) c.1727G>C (n.1727G>C) c.1347G>C (p.Met449Ile) c.1395G>C (p.Met465Ile) c.1491G>C (p.Met497Ile) c.1437G>C (p.Met479Ile) c.1398G>C (p.Met466Ile) | |
18 | g.33738919G= | CA2294855744 | ASXL3 | c.1518G= (p.Met506=) c.1515G= (p.Met505=) c.*639G= (n.*639G=) c.*1174G= (n.*1174G=) c.1727G= (n.1727G=) c.1347G= (p.Met449=) c.1395G= (p.Met465=) c.1491G= (p.Met497=) c.1437G= (p.Met479=) c.1398G= (p.Met466=) | |
18 | g.33738919G>T | CA8933767 | ASXL3 | c.1518G>T (p.Met506Ile) c.1515G>T (p.Met505Ile) c.*639G>T (n.*639G>T) c.*1174G>T (n.*1174G>T) c.1727G>T (n.1727G>T) c.1347G>T (p.Met449Ile) c.1395G>T (p.Met465Ile) c.1491G>T (p.Met497Ile) c.1437G>T (p.Met479Ile) c.1398G>T (p.Met466Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738920A>C | CA402175744 | ASXL3 | c.1519A>C (p.Asn507His) c.1516A>C (p.Asn506His) c.*640A>C (n.*640A>C) c.*1175A>C (n.*1175A>C) c.1728A>C (n.1728A>C) c.1348A>C (p.Asn450His) c.1396A>C (p.Asn466His) c.1492A>C (p.Asn498His) c.1438A>C (p.Asn480His) c.1399A>C (p.Asn467His) | |
18 | g.33738920A>G | CA402175745 | ASXL3 | c.1519A>G (p.Asn507Asp) c.1516A>G (p.Asn506Asp) c.*640A>G (n.*640A>G) c.*1175A>G (n.*1175A>G) c.1728A>G (n.1728A>G) c.1348A>G (p.Asn450Asp) c.1396A>G (p.Asn466Asp) c.1492A>G (p.Asn498Asp) c.1438A>G (p.Asn480Asp) c.1399A>G (p.Asn467Asp) | |
18 | g.33738920A>T | CA402175746 | ASXL3 | c.1519A>T (p.Asn507Tyr) c.1516A>T (p.Asn506Tyr) c.*640A>T (n.*640A>T) c.*1175A>T (n.*1175A>T) c.1728A>T (n.1728A>T) c.1348A>T (p.Asn450Tyr) c.1396A>T (p.Asn466Tyr) c.1492A>T (p.Asn498Tyr) c.1438A>T (p.Asn480Tyr) c.1399A>T (p.Asn467Tyr) | |
18 | g.33738921A>C | CA402175747 | ASXL3 | c.1520A>C (p.Asn507Thr) c.1517A>C (p.Asn506Thr) c.*641A>C (n.*641A>C) c.*1176A>C (n.*1176A>C) c.1729A>C (n.1729A>C) c.1349A>C (p.Asn450Thr) c.1397A>C (p.Asn466Thr) c.1493A>C (p.Asn498Thr) c.1439A>C (p.Asn480Thr) c.1400A>C (p.Asn467Thr) | |
18 | g.33738921A>G | CA402175748 | ASXL3 | c.1520A>G (p.Asn507Ser) c.1517A>G (p.Asn506Ser) c.*641A>G (n.*641A>G) c.*1176A>G (n.*1176A>G) c.1729A>G (n.1729A>G) c.1349A>G (p.Asn450Ser) c.1397A>G (p.Asn466Ser) c.1493A>G (p.Asn498Ser) c.1439A>G (p.Asn480Ser) c.1400A>G (p.Asn467Ser) | |
18 | g.33738921A>T | CA402175749 | ASXL3 | c.1520A>T (p.Asn507Ile) c.1517A>T (p.Asn506Ile) c.*641A>T (n.*641A>T) c.*1176A>T (n.*1176A>T) c.1729A>T (n.1729A>T) c.1349A>T (p.Asn450Ile) c.1397A>T (p.Asn466Ile) c.1493A>T (p.Asn498Ile) c.1439A>T (p.Asn480Ile) c.1400A>T (p.Asn467Ile) | |
18 | g.33738922T>A | CA402175750 | ASXL3 | c.1521T>A (p.Asn507Lys) c.1518T>A (p.Asn506Lys) c.*642T>A (n.*642T>A) c.*1177T>A (n.*1177T>A) c.1730T>A (n.1730T>A) c.1350T>A (p.Asn450Lys) c.1398T>A (p.Asn466Lys) c.1494T>A (p.Asn498Lys) c.1440T>A (p.Asn480Lys) c.1401T>A (p.Asn467Lys) | |
18 | g.33738922T>C | CA503768426 | ASXL3 | c.1521T>C (p.Asn507=) c.1518T>C (p.Asn506=) c.*642T>C (n.*642T>C) c.*1177T>C (n.*1177T>C) c.1730T>C (n.1730T>C) c.1350T>C (p.Asn450=) c.1398T>C (p.Asn466=) c.1494T>C (p.Asn498=) c.1440T>C (p.Asn480=) c.1401T>C (p.Asn467=) | |
18 | g.33738922T>G | CA402175751 | ASXL3 | c.1521T>G (p.Asn507Lys) c.1518T>G (p.Asn506Lys) c.*642T>G (n.*642T>G) c.*1177T>G (n.*1177T>G) c.1730T>G (n.1730T>G) c.1350T>G (p.Asn450Lys) c.1398T>G (p.Asn466Lys) c.1494T>G (p.Asn498Lys) c.1440T>G (p.Asn480Lys) c.1401T>G (p.Asn467Lys) | |
18 | g.33738923G>A | CA297786745 | ASXL3 | c.1522G>A (p.Asp508Asn) c.1519G>A (p.Asp507Asn) c.*643G>A (n.*643G>A) c.*1178G>A (n.*1178G>A) c.1731G>A (n.1731G>A) c.1351G>A (p.Asp451Asn) c.1399G>A (p.Asp467Asn) c.1495G>A (p.Asp499Asn) c.1441G>A (p.Asp481Asn) c.1402G>A (p.Asp468Asn) | dbSNP gnomAD v4 |
18 | g.33738923G>C | CA402175752 | ASXL3 | c.1522G>C (p.Asp508His) c.1519G>C (p.Asp507His) c.*643G>C (n.*643G>C) c.*1178G>C (n.*1178G>C) c.1731G>C (n.1731G>C) c.1351G>C (p.Asp451His) c.1399G>C (p.Asp467His) c.1495G>C (p.Asp499His) c.1441G>C (p.Asp481His) c.1402G>C (p.Asp468His) | ClinVar gnomAD v4 |
18 | g.33738923G= | CA2294855745 | ASXL3 | c.1522G= (p.Asp508=) c.1519G= (p.Asp507=) c.*643G= (n.*643G=) c.*1178G= (n.*1178G=) c.1731G= (n.1731G=) c.1351G= (p.Asp451=) c.1399G= (p.Asp467=) c.1495G= (p.Asp499=) c.1441G= (p.Asp481=) c.1402G= (p.Asp468=) | |
18 | g.33738923G>T | CA402175753 | ASXL3 | c.1522G>T (p.Asp508Tyr) c.1519G>T (p.Asp507Tyr) c.*643G>T (n.*643G>T) c.*1178G>T (n.*1178G>T) c.1731G>T (n.1731G>T) c.1351G>T (p.Asp451Tyr) c.1399G>T (p.Asp467Tyr) c.1495G>T (p.Asp499Tyr) c.1441G>T (p.Asp481Tyr) c.1402G>T (p.Asp468Tyr) | COSMIC COSMIC |
18 | g.33738924A>C | CA402175754 | ASXL3 | c.1523A>C (p.Asp508Ala) c.1520A>C (p.Asp507Ala) c.*644A>C (n.*644A>C) c.*1179A>C (n.*1179A>C) c.1732A>C (n.1732A>C) c.1352A>C (p.Asp451Ala) c.1400A>C (p.Asp467Ala) c.1496A>C (p.Asp499Ala) c.1442A>C (p.Asp481Ala) c.1403A>C (p.Asp468Ala) | |
18 | g.33738924A>G | CA402175755 | ASXL3 | c.1523A>G (p.Asp508Gly) c.1520A>G (p.Asp507Gly) c.*644A>G (n.*644A>G) c.*1179A>G (n.*1179A>G) c.1732A>G (n.1732A>G) c.1352A>G (p.Asp451Gly) c.1400A>G (p.Asp467Gly) c.1496A>G (p.Asp499Gly) c.1442A>G (p.Asp481Gly) c.1403A>G (p.Asp468Gly) | |
18 | g.33738924A>T | CA402175756 | ASXL3 | c.1523A>T (p.Asp508Val) c.1520A>T (p.Asp507Val) c.*644A>T (n.*644A>T) c.*1179A>T (n.*1179A>T) c.1732A>T (n.1732A>T) c.1352A>T (p.Asp451Val) c.1400A>T (p.Asp467Val) c.1496A>T (p.Asp499Val) c.1442A>T (p.Asp481Val) c.1403A>T (p.Asp468Val) | |
18 | g.33738925T>A | CA402175757 | ASXL3 | c.1524T>A (p.Asp508Glu) c.1521T>A (p.Asp507Glu) c.*645T>A (n.*645T>A) c.*1180T>A (n.*1180T>A) c.1733T>A (n.1733T>A) c.1353T>A (p.Asp451Glu) c.1401T>A (p.Asp467Glu) c.1497T>A (p.Asp499Glu) c.1443T>A (p.Asp481Glu) c.1404T>A (p.Asp468Glu) | |
18 | g.33738925T>C | CA503768428 | ASXL3 | c.1524T>C (p.Asp508=) c.1521T>C (p.Asp507=) c.*645T>C (n.*645T>C) c.*1180T>C (n.*1180T>C) c.1733T>C (n.1733T>C) c.1353T>C (p.Asp451=) c.1401T>C (p.Asp467=) c.1497T>C (p.Asp499=) c.1443T>C (p.Asp481=) c.1404T>C (p.Asp468=) | gnomAD v4 |
18 | g.33738925T>G | CA402175758 | ASXL3 | c.1524T>G (p.Asp508Glu) c.1521T>G (p.Asp507Glu) c.*645T>G (n.*645T>G) c.*1180T>G (n.*1180T>G) c.1733T>G (n.1733T>G) c.1353T>G (p.Asp451Glu) c.1401T>G (p.Asp467Glu) c.1497T>G (p.Asp499Glu) c.1443T>G (p.Asp481Glu) c.1404T>G (p.Asp468Glu) | |
18 | g.33738926G>A | CA402175759 | ASXL3 | c.1525G>A (p.Val509Ile) c.1522G>A (p.Val508Ile) c.*646G>A (n.*646G>A) c.*1181G>A (n.*1181G>A) c.1734G>A (n.1734G>A) c.1354G>A (p.Val452Ile) c.1402G>A (p.Val468Ile) c.1498G>A (p.Val500Ile) c.1444G>A (p.Val482Ile) c.1405G>A (p.Val469Ile) | gnomAD v4 |
18 | g.33738926G>C | CA402175760 | ASXL3 | c.1525G>C (p.Val509Leu) c.1522G>C (p.Val508Leu) c.*646G>C (n.*646G>C) c.*1181G>C (n.*1181G>C) c.1734G>C (n.1734G>C) c.1354G>C (p.Val452Leu) c.1402G>C (p.Val468Leu) c.1498G>C (p.Val500Leu) c.1444G>C (p.Val482Leu) c.1405G>C (p.Val469Leu) | |
18 | g.33738926G>T | CA402175761 | ASXL3 | c.1525G>T (p.Val509Phe) c.1522G>T (p.Val508Phe) c.*646G>T (n.*646G>T) c.*1181G>T (n.*1181G>T) c.1734G>T (n.1734G>T) c.1354G>T (p.Val452Phe) c.1402G>T (p.Val468Phe) c.1498G>T (p.Val500Phe) c.1444G>T (p.Val482Phe) c.1405G>T (p.Val469Phe) | |
18 | g.33738927T>A | CA402175762 | ASXL3 | c.1526T>A (p.Val509Asp) c.1523T>A (p.Val508Asp) c.*647T>A (n.*647T>A) c.*1182T>A (n.*1182T>A) c.1735T>A (n.1735T>A) c.1355T>A (p.Val452Asp) c.1403T>A (p.Val468Asp) c.1499T>A (p.Val500Asp) c.1445T>A (p.Val482Asp) c.1406T>A (p.Val469Asp) | |
18 | g.33738927T>C | CA402175763 | ASXL3 | c.1526T>C (p.Val509Ala) c.1523T>C (p.Val508Ala) c.*647T>C (n.*647T>C) c.*1182T>C (n.*1182T>C) c.1735T>C (n.1735T>C) c.1355T>C (p.Val452Ala) c.1403T>C (p.Val468Ala) c.1499T>C (p.Val500Ala) c.1445T>C (p.Val482Ala) c.1406T>C (p.Val469Ala) | |
18 | g.33738927T>G | CA402175764 | ASXL3 | c.1526T>G (p.Val509Gly) c.1523T>G (p.Val508Gly) c.*647T>G (n.*647T>G) c.*1182T>G (n.*1182T>G) c.1735T>G (n.1735T>G) c.1355T>G (p.Val452Gly) c.1403T>G (p.Val468Gly) c.1499T>G (p.Val500Gly) c.1445T>G (p.Val482Gly) c.1406T>G (p.Val469Gly) | |
18 | g.33738928T>A | CA503768430 | ASXL3 | c.1527T>A (p.Val509=) c.1524T>A (p.Val508=) c.*648T>A (n.*648T>A) c.*1183T>A (n.*1183T>A) c.1736T>A (n.1736T>A) c.1356T>A (p.Val452=) c.1404T>A (p.Val468=) c.1500T>A (p.Val500=) c.1446T>A (p.Val482=) c.1407T>A (p.Val469=) | |
18 | g.33738928T>C | CA503768431 | ASXL3 | c.1527T>C (p.Val509=) c.1524T>C (p.Val508=) c.*648T>C (n.*648T>C) c.*1183T>C (n.*1183T>C) c.1736T>C (n.1736T>C) c.1356T>C (p.Val452=) c.1404T>C (p.Val468=) c.1500T>C (p.Val500=) c.1446T>C (p.Val482=) c.1407T>C (p.Val469=) | |
18 | g.33738928T>G | CA503768432 | ASXL3 | c.1527T>G (p.Val509=) c.1524T>G (p.Val508=) c.*648T>G (n.*648T>G) c.*1183T>G (n.*1183T>G) c.1736T>G (n.1736T>G) c.1356T>G (p.Val452=) c.1404T>G (p.Val468=) c.1500T>G (p.Val500=) c.1446T>G (p.Val482=) c.1407T>G (p.Val469=) | |
18 | g.33738929T>A | CA402175766 | ASXL3 | c.1528T>A (p.Leu510Ile) c.1525T>A (p.Leu509Ile) c.*649T>A (n.*649T>A) c.*1184T>A (n.*1184T>A) c.1737T>A (n.1737T>A) c.1357T>A (p.Leu453Ile) c.1405T>A (p.Leu469Ile) c.1501T>A (p.Leu501Ile) c.1447T>A (p.Leu483Ile) c.1408T>A (p.Leu470Ile) | |
18 | g.33738929T>C | CA503768433 | ASXL3 | c.1528T>C (p.Leu510=) c.1525T>C (p.Leu509=) c.*649T>C (n.*649T>C) c.*1184T>C (n.*1184T>C) c.1737T>C (n.1737T>C) c.1357T>C (p.Leu453=) c.1405T>C (p.Leu469=) c.1501T>C (p.Leu501=) c.1447T>C (p.Leu483=) c.1408T>C (p.Leu470=) | dbSNP |
18 | g.33738929T>G | CA402175765 | ASXL3 | c.1528T>G (p.Leu510Val) c.1525T>G (p.Leu509Val) c.*649T>G (n.*649T>G) c.*1184T>G (n.*1184T>G) c.1737T>G (n.1737T>G) c.1357T>G (p.Leu453Val) c.1405T>G (p.Leu469Val) c.1501T>G (p.Leu501Val) c.1447T>G (p.Leu483Val) c.1408T>G (p.Leu470Val) | |
18 | g.33738930T>A | CA402175767 | ASXL3 | c.1529T>A (p.Leu510Ter) c.1526T>A (p.Leu509Ter) c.*650T>A (n.*650T>A) c.*1185T>A (n.*1185T>A) c.1738T>A (n.1738T>A) c.1358T>A (p.Leu453Ter) c.1406T>A (p.Leu469Ter) c.1502T>A (p.Leu501Ter) c.1448T>A (p.Leu483Ter) c.1409T>A (p.Leu470Ter) | |
18 | g.33738930T>C | CA402175768 | ASXL3 | c.1529T>C (p.Leu510Ser) c.1526T>C (p.Leu509Ser) c.*650T>C (n.*650T>C) c.*1185T>C (n.*1185T>C) c.1738T>C (n.1738T>C) c.1358T>C (p.Leu453Ser) c.1406T>C (p.Leu469Ser) c.1502T>C (p.Leu501Ser) c.1448T>C (p.Leu483Ser) c.1409T>C (p.Leu470Ser) | |
18 | g.33738930T>G | CA402175769 | ASXL3 | c.1529T>G (p.Leu510Ter) c.1526T>G (p.Leu509Ter) c.*650T>G (n.*650T>G) c.*1185T>G (n.*1185T>G) c.1738T>G (n.1738T>G) c.1358T>G (p.Leu453Ter) c.1406T>G (p.Leu469Ter) c.1502T>G (p.Leu501Ter) c.1448T>G (p.Leu483Ter) c.1409T>G (p.Leu470Ter) | |
18 | g.33738930T= | CA2294855746 | ASXL3 | c.1529T= (p.Leu510=) c.1526T= (p.Leu509=) c.*650T= (n.*650T=) c.*1185T= (n.*1185T=) c.1738T= (n.1738T=) c.1358T= (p.Leu453=) c.1406T= (p.Leu469=) c.1502T= (p.Leu501=) c.1448T= (p.Leu483=) c.1409T= (p.Leu470=) | |
18 | g.33738931A>C | CA402175770 | ASXL3 | c.1530A>C (p.Leu510Phe) c.1527A>C (p.Leu509Phe) c.*651A>C (n.*651A>C) c.*1186A>C (n.*1186A>C) c.1739A>C (n.1739A>C) c.1359A>C (p.Leu453Phe) c.1407A>C (p.Leu469Phe) c.1503A>C (p.Leu501Phe) c.1449A>C (p.Leu483Phe) c.1410A>C (p.Leu470Phe) | gnomAD v4 |
18 | g.33738931A>G | CA503768434 | ASXL3 | c.1530A>G (p.Leu510=) c.1527A>G (p.Leu509=) c.*651A>G (n.*651A>G) c.*1186A>G (n.*1186A>G) c.1739A>G (n.1739A>G) c.1359A>G (p.Leu453=) c.1407A>G (p.Leu469=) c.1503A>G (p.Leu501=) c.1449A>G (p.Leu483=) c.1410A>G (p.Leu470=) | |
18 | g.33738931A>T | CA402175771 | ASXL3 | c.1530A>T (p.Leu510Phe) c.1527A>T (p.Leu509Phe) c.*651A>T (n.*651A>T) c.*1186A>T (n.*1186A>T) c.1739A>T (n.1739A>T) c.1359A>T (p.Leu453Phe) c.1407A>T (p.Leu469Phe) c.1503A>T (p.Leu501Phe) c.1449A>T (p.Leu483Phe) c.1410A>T (p.Leu470Phe) | |
18 | g.33738935_33738976dup | CA629454084 | ASXL3 | c.1534_1575dup (p.Glu525_Ser526insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu) c.1531_1572dup (p.Glu524_Ser525insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu) c.*655_*696dup (n.*655_*696dup) c.*1190_*1231dup (n.*1190_*1231dup) c.1743_1784dup (n.1743_1784dup) c.1363_1404dup (p.Glu468_Ser469insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu) c.1411_1452dup (p.Glu484_Ser485insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu) c.1507_1548dup (p.Glu516_Ser517insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu) c.1453_1494dup (p.Glu498_Ser499insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu) c.1414_1455dup (p.Glu485_Ser486insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738932G>A | CA402175774 | ASXL3 | c.1531G>A (p.Glu511Lys) c.1528G>A (p.Glu510Lys) c.*652G>A (n.*652G>A) c.*1187G>A (n.*1187G>A) c.1740G>A (n.1740G>A) c.1360G>A (p.Glu454Lys) c.1408G>A (p.Glu470Lys) c.1504G>A (p.Glu502Lys) c.1450G>A (p.Glu484Lys) c.1411G>A (p.Glu471Lys) | |
18 | g.33738932G>C | CA402175773 | ASXL3 | c.1531G>C (p.Glu511Gln) c.1528G>C (p.Glu510Gln) c.*652G>C (n.*652G>C) c.*1187G>C (n.*1187G>C) c.1740G>C (n.1740G>C) c.1360G>C (p.Glu454Gln) c.1408G>C (p.Glu470Gln) c.1504G>C (p.Glu502Gln) c.1450G>C (p.Glu484Gln) c.1411G>C (p.Glu471Gln) | |
18 | g.33738932G>T | CA402175772 | ASXL3 | c.1531G>T (p.Glu511Ter) c.1528G>T (p.Glu510Ter) c.*652G>T (n.*652G>T) c.*1187G>T (n.*1187G>T) c.1740G>T (n.1740G>T) c.1360G>T (p.Glu454Ter) c.1408G>T (p.Glu470Ter) c.1504G>T (p.Glu502Ter) c.1450G>T (p.Glu484Ter) c.1411G>T (p.Glu471Ter) | |
18 | g.33738933A>C | CA402175775 | ASXL3 | c.1532A>C (p.Glu511Ala) c.1529A>C (p.Glu510Ala) c.*653A>C (n.*653A>C) c.*1188A>C (n.*1188A>C) c.1741A>C (n.1741A>C) c.1361A>C (p.Glu454Ala) c.1409A>C (p.Glu470Ala) c.1505A>C (p.Glu502Ala) c.1451A>C (p.Glu484Ala) c.1412A>C (p.Glu471Ala) | |
18 | g.33738933A>G | CA402175776 | ASXL3 | c.1532A>G (p.Glu511Gly) c.1529A>G (p.Glu510Gly) c.*653A>G (n.*653A>G) c.*1188A>G (n.*1188A>G) c.1741A>G (n.1741A>G) c.1361A>G (p.Glu454Gly) c.1409A>G (p.Glu470Gly) c.1505A>G (p.Glu502Gly) c.1451A>G (p.Glu484Gly) c.1412A>G (p.Glu471Gly) | |
18 | g.33738933A>T | CA402175777 | ASXL3 | c.1532A>T (p.Glu511Val) c.1529A>T (p.Glu510Val) c.*653A>T (n.*653A>T) c.*1188A>T (n.*1188A>T) c.1741A>T (n.1741A>T) c.1361A>T (p.Glu454Val) c.1409A>T (p.Glu470Val) c.1505A>T (p.Glu502Val) c.1451A>T (p.Glu484Val) c.1412A>T (p.Glu471Val) | |
18 | g.33738934A= | CA2294855747 | ASXL3 | c.1533A= (p.Glu511=) c.1530A= (p.Glu510=) c.*654A= (n.*654A=) c.*1189A= (n.*1189A=) c.1742A= (n.1742A=) c.1362A= (p.Glu454=) c.1410A= (p.Glu470=) c.1506A= (p.Glu502=) c.1452A= (p.Glu484=) c.1413A= (p.Glu471=) | |
18 | g.33738934A>C | CA402175778 | ASXL3 | c.1533A>C (p.Glu511Asp) c.1530A>C (p.Glu510Asp) c.*654A>C (n.*654A>C) c.*1189A>C (n.*1189A>C) c.1742A>C (n.1742A>C) c.1362A>C (p.Glu454Asp) c.1410A>C (p.Glu470Asp) c.1506A>C (p.Glu502Asp) c.1452A>C (p.Glu484Asp) c.1413A>C (p.Glu471Asp) | dbSNP |
18 | g.33738934A>G | CA8933768 | ASXL3 | c.1533A>G (p.Glu511=) c.1530A>G (p.Glu510=) c.*654A>G (n.*654A>G) c.*1189A>G (n.*1189A>G) c.1742A>G (n.1742A>G) c.1362A>G (p.Glu454=) c.1410A>G (p.Glu470=) c.1506A>G (p.Glu502=) c.1452A>G (p.Glu484=) c.1413A>G (p.Glu471=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738934A>T | CA402175779 | ASXL3 | c.1533A>T (p.Glu511Asp) c.1530A>T (p.Glu510Asp) c.*654A>T (n.*654A>T) c.*1189A>T (n.*1189A>T) c.1742A>T (n.1742A>T) c.1362A>T (p.Glu454Asp) c.1410A>T (p.Glu470Asp) c.1506A>T (p.Glu502Asp) c.1452A>T (p.Glu484Asp) c.1413A>T (p.Glu471Asp) | |
18 | g.33738935A= | CA2294855748 | ASXL3 | c.1534A= (p.Thr512=) c.1531A= (p.Thr511=) c.*655A= (n.*655A=) c.*1190A= (n.*1190A=) c.1743A= (n.1743A=) c.1363A= (p.Thr455=) c.1411A= (p.Thr471=) c.1507A= (p.Thr503=) c.1453A= (p.Thr485=) c.1414A= (p.Thr472=) | |
18 | g.33738935A>C | CA402175780 | ASXL3 | c.1534A>C (p.Thr512Pro) c.1531A>C (p.Thr511Pro) c.*655A>C (n.*655A>C) c.*1190A>C (n.*1190A>C) c.1743A>C (n.1743A>C) c.1363A>C (p.Thr455Pro) c.1411A>C (p.Thr471Pro) c.1507A>C (p.Thr503Pro) c.1453A>C (p.Thr485Pro) c.1414A>C (p.Thr472Pro) | |
18 | g.33738935A>G | CA402175782 | ASXL3 | c.1534A>G (p.Thr512Ala) c.1531A>G (p.Thr511Ala) c.*655A>G (n.*655A>G) c.*1190A>G (n.*1190A>G) c.1743A>G (n.1743A>G) c.1363A>G (p.Thr455Ala) c.1411A>G (p.Thr471Ala) c.1507A>G (p.Thr503Ala) c.1453A>G (p.Thr485Ala) c.1414A>G (p.Thr472Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738935A>T | CA402175781 | ASXL3 | c.1534A>T (p.Thr512Ser) c.1531A>T (p.Thr511Ser) c.*655A>T (n.*655A>T) c.*1190A>T (n.*1190A>T) c.1743A>T (n.1743A>T) c.1363A>T (p.Thr455Ser) c.1411A>T (p.Thr471Ser) c.1507A>T (p.Thr503Ser) c.1453A>T (p.Thr485Ser) c.1414A>T (p.Thr472Ser) | |
18 | g.33738936C>A | CA402175783 | ASXL3 | c.1535C>A (p.Thr512Asn) c.1532C>A (p.Thr511Asn) c.*656C>A (n.*656C>A) c.*1191C>A (n.*1191C>A) c.1744C>A (n.1744C>A) c.1364C>A (p.Thr455Asn) c.1412C>A (p.Thr471Asn) c.1508C>A (p.Thr503Asn) c.1454C>A (p.Thr485Asn) c.1415C>A (p.Thr472Asn) | |
18 | g.33738936C= | CA2294855750 | ASXL3 | c.1535C= (p.Thr512=) c.1532C= (p.Thr511=) c.*656C= (n.*656C=) c.*1191C= (n.*1191C=) c.1744C= (n.1744C=) c.1364C= (p.Thr455=) c.1412C= (p.Thr471=) c.1508C= (p.Thr503=) c.1454C= (p.Thr485=) c.1415C= (p.Thr472=) | |
18 | g.33738936C>G | CA402175784 | ASXL3 | c.1535C>G (p.Thr512Ser) c.1532C>G (p.Thr511Ser) c.*656C>G (n.*656C>G) c.*1191C>G (n.*1191C>G) c.1744C>G (n.1744C>G) c.1364C>G (p.Thr455Ser) c.1412C>G (p.Thr471Ser) c.1508C>G (p.Thr503Ser) c.1454C>G (p.Thr485Ser) c.1415C>G (p.Thr472Ser) | |
18 | g.33738936C>T | CA402175785 | ASXL3 | c.1535C>T (p.Thr512Ile) c.1532C>T (p.Thr511Ile) c.*656C>T (n.*656C>T) c.*1191C>T (n.*1191C>T) c.1744C>T (n.1744C>T) c.1364C>T (p.Thr455Ile) c.1412C>T (p.Thr471Ile) c.1508C>T (p.Thr503Ile) c.1454C>T (p.Thr485Ile) c.1415C>T (p.Thr472Ile) | dbSNP gnomAD v4 |
18 | g.33738936_33738938delinsCTT | CA2294855749 | ASXL3 | c.1535_1537delinsCTT (p.Thr512=) c.1532_1534delinsCTT (p.Thr511=) c.*656_*658delinsCTT (n.*656_*658delinsCTT) c.*1191_*1193delinsCTT (n.*1191_*1193delinsCTT) c.1744_1746delinsCTT (n.1744_1746delinsCTT) c.1364_1366delinsCTT (p.Thr455=) c.1412_1414delinsCTT (p.Thr471=) c.1508_1510delinsCTT (p.Thr503=) c.1454_1456delinsCTT (p.Thr485=) c.1415_1417delinsCTT (p.Thr472=) | |
18 | g.33738936_33738953del | CA2576484111 | ASXL3 | c.1535_1552del (p.Thr512_Val518delinsIle) c.1532_1549del (p.Thr511_Val517delinsIle) c.*656_*673del (n.*656_*673del) c.*1191_*1208del (n.*1191_*1208del) c.1744_1761del (n.1744_1761del) c.1364_1381del (p.Thr455_Val461delinsIle) c.1412_1429del (p.Thr471_Val477delinsIle) c.1508_1525del (p.Thr503_Val509delinsIle) c.1454_1471del (p.Thr485_Val491delinsIle) c.1415_1432del (p.Thr472_Val478delinsIle) | gnomAD v4 |
18 | g.33738937T>A | CA503768439 | ASXL3 | c.1536T>A (p.Thr512=) c.1533T>A (p.Thr511=) c.*657T>A (n.*657T>A) c.*1192T>A (n.*1192T>A) c.1745T>A (n.1745T>A) c.1365T>A (p.Thr455=) c.1413T>A (p.Thr471=) c.1509T>A (p.Thr503=) c.1455T>A (p.Thr485=) c.1416T>A (p.Thr472=) | |
18 | g.33738937T>C | CA503768440 | ASXL3 | c.1536T>C (p.Thr512=) c.1533T>C (p.Thr511=) c.*657T>C (n.*657T>C) c.*1192T>C (n.*1192T>C) c.1745T>C (n.1745T>C) c.1365T>C (p.Thr455=) c.1413T>C (p.Thr471=) c.1509T>C (p.Thr503=) c.1455T>C (p.Thr485=) c.1416T>C (p.Thr472=) | |
18 | g.33738937T>G | CA503768441 | ASXL3 | c.1536T>G (p.Thr512=) c.1533T>G (p.Thr511=) c.*657T>G (n.*657T>G) c.*1192T>G (n.*1192T>G) c.1745T>G (n.1745T>G) c.1365T>G (p.Thr455=) c.1413T>G (p.Thr471=) c.1509T>G (p.Thr503=) c.1455T>G (p.Thr485=) c.1416T>G (p.Thr472=) | |
18 | g.33738938_33738939del | CA658799027 | ASXL3 | c.1537_1538del (p.Leu513AlafsTer4) c.1534_1535del (p.Leu512AlafsTer4) c.*658_*659del (n.*658_*659del) c.*1193_*1194del (n.*1193_*1194del) c.1746_1747del (n.1746_1747del) c.1366_1367del (p.Leu456AlafsTer4) c.1414_1415del (p.Leu472AlafsTer4) c.1510_1511del (p.Leu504AlafsTer4) c.1456_1457del (p.Leu486AlafsTer4) c.1417_1418del (p.Leu473AlafsTer4) | ClinVar dbSNP |
18 | g.33738938T>A | CA402175786 | ASXL3 | c.1537T>A (p.Leu513Met) c.1534T>A (p.Leu512Met) c.*658T>A (n.*658T>A) c.*1193T>A (n.*1193T>A) c.1746T>A (n.1746T>A) c.1366T>A (p.Leu456Met) c.1414T>A (p.Leu472Met) c.1510T>A (p.Leu504Met) c.1456T>A (p.Leu486Met) c.1417T>A (p.Leu473Met) | |
18 | g.33738938T>C | CA503768445 | ASXL3 | c.1537T>C (p.Leu513=) c.1534T>C (p.Leu512=) c.*658T>C (n.*658T>C) c.*1193T>C (n.*1193T>C) c.1746T>C (n.1746T>C) c.1366T>C (p.Leu456=) c.1414T>C (p.Leu472=) c.1510T>C (p.Leu504=) c.1456T>C (p.Leu486=) c.1417T>C (p.Leu473=) | |
18 | g.33738938T>G | CA402175787 | ASXL3 | c.1537T>G (p.Leu513Val) c.1534T>G (p.Leu512Val) c.*658T>G (n.*658T>G) c.*1193T>G (n.*1193T>G) c.1746T>G (n.1746T>G) c.1366T>G (p.Leu456Val) c.1414T>G (p.Leu472Val) c.1510T>G (p.Leu504Val) c.1456T>G (p.Leu486Val) c.1417T>G (p.Leu473Val) | dbSNP |
18 | g.33738938T= | CA2294855751 | ASXL3 | c.1537T= (p.Leu513=) c.1534T= (p.Leu512=) c.*658T= (n.*658T=) c.*1193T= (n.*1193T=) c.1746T= (n.1746T=) c.1366T= (p.Leu456=) c.1414T= (p.Leu472=) c.1510T= (p.Leu504=) c.1456T= (p.Leu486=) c.1417T= (p.Leu473=) | |
18 | g.33738939T>A | CA402175788 | ASXL3 | c.1538T>A (p.Leu513Ter) c.1535T>A (p.Leu512Ter) c.*659T>A (n.*659T>A) c.*1194T>A (n.*1194T>A) c.1747T>A (n.1747T>A) c.1367T>A (p.Leu456Ter) c.1415T>A (p.Leu472Ter) c.1511T>A (p.Leu504Ter) c.1457T>A (p.Leu486Ter) c.1418T>A (p.Leu473Ter) | ClinVar dbSNP |
18 | g.33738939T>C | CA402175789 | ASXL3 | c.1538T>C (p.Leu513Ser) c.1535T>C (p.Leu512Ser) c.*659T>C (n.*659T>C) c.*1194T>C (n.*1194T>C) c.1747T>C (n.1747T>C) c.1367T>C (p.Leu456Ser) c.1415T>C (p.Leu472Ser) c.1511T>C (p.Leu504Ser) c.1457T>C (p.Leu486Ser) c.1418T>C (p.Leu473Ser) | |
18 | g.33738939T>G | CA402175790 | ASXL3 | c.1538T>G (p.Leu513Trp) c.1535T>G (p.Leu512Trp) c.*659T>G (n.*659T>G) c.*1194T>G (n.*1194T>G) c.1747T>G (n.1747T>G) c.1367T>G (p.Leu456Trp) c.1415T>G (p.Leu472Trp) c.1511T>G (p.Leu504Trp) c.1457T>G (p.Leu486Trp) c.1418T>G (p.Leu473Trp) | |
18 | g.33738939T= | CA2294855752 | ASXL3 | c.1538T= (p.Leu513=) c.1535T= (p.Leu512=) c.*659T= (n.*659T=) c.*1194T= (n.*1194T=) c.1747T= (n.1747T=) c.1367T= (p.Leu456=) c.1415T= (p.Leu472=) c.1511T= (p.Leu504=) c.1457T= (p.Leu486=) c.1418T= (p.Leu473=) | |
18 | g.33738940G>A | CA503768447 | ASXL3 | c.1539G>A (p.Leu513=) c.1536G>A (p.Leu512=) c.*660G>A (n.*660G>A) c.*1195G>A (n.*1195G>A) c.1748G>A (n.1748G>A) c.1368G>A (p.Leu456=) c.1416G>A (p.Leu472=) c.1512G>A (p.Leu504=) c.1458G>A (p.Leu486=) c.1419G>A (p.Leu473=) | |
18 | g.33738940G>C | CA402175791 | ASXL3 | c.1539G>C (p.Leu513Phe) c.1536G>C (p.Leu512Phe) c.*660G>C (n.*660G>C) c.*1195G>C (n.*1195G>C) c.1748G>C (n.1748G>C) c.1368G>C (p.Leu456Phe) c.1416G>C (p.Leu472Phe) c.1512G>C (p.Leu504Phe) c.1458G>C (p.Leu486Phe) c.1419G>C (p.Leu473Phe) | |
18 | g.33738940G>T | CA402175792 | ASXL3 | c.1539G>T (p.Leu513Phe) c.1536G>T (p.Leu512Phe) c.*660G>T (n.*660G>T) c.*1195G>T (n.*1195G>T) c.1748G>T (n.1748G>T) c.1368G>T (p.Leu456Phe) c.1416G>T (p.Leu472Phe) c.1512G>T (p.Leu504Phe) c.1458G>T (p.Leu486Phe) c.1419G>T (p.Leu473Phe) | gnomAD v4 |
18 | g.33738941C>A | CA402175795 | ASXL3 | c.1540C>A (p.Pro514Thr) c.1537C>A (p.Pro513Thr) c.*661C>A (n.*661C>A) c.*1196C>A (n.*1196C>A) c.1749C>A (n.1749C>A) c.1369C>A (p.Pro457Thr) c.1417C>A (p.Pro473Thr) c.1513C>A (p.Pro505Thr) c.1459C>A (p.Pro487Thr) c.1420C>A (p.Pro474Thr) | gnomAD v4 |
18 | g.33738941C= | CA2294855753 | ASXL3 | c.1540C= (p.Pro514=) c.1537C= (p.Pro513=) c.*661C= (n.*661C=) c.*1196C= (n.*1196C=) c.1749C= (n.1749C=) c.1369C= (p.Pro457=) c.1417C= (p.Pro473=) c.1513C= (p.Pro505=) c.1459C= (p.Pro487=) c.1420C= (p.Pro474=) | |
18 | g.33738941C>G | CA402175794 | ASXL3 | c.1540C>G (p.Pro514Ala) c.1537C>G (p.Pro513Ala) c.*661C>G (n.*661C>G) c.*1196C>G (n.*1196C>G) c.1749C>G (n.1749C>G) c.1369C>G (p.Pro457Ala) c.1417C>G (p.Pro473Ala) c.1513C>G (p.Pro505Ala) c.1459C>G (p.Pro487Ala) c.1420C>G (p.Pro474Ala) | dbSNP gnomAD v4 |
18 | g.33738941C>T | CA402175793 | ASXL3 | c.1540C>T (p.Pro514Ser) c.1537C>T (p.Pro513Ser) c.*661C>T (n.*661C>T) c.*1196C>T (n.*1196C>T) c.1749C>T (n.1749C>T) c.1369C>T (p.Pro457Ser) c.1417C>T (p.Pro473Ser) c.1513C>T (p.Pro505Ser) c.1459C>T (p.Pro487Ser) c.1420C>T (p.Pro474Ser) | gnomAD v4 |
18 | g.33738942C>A | CA402175796 | ASXL3 | c.1541C>A (p.Pro514His) c.1538C>A (p.Pro513His) c.*662C>A (n.*662C>A) c.*1197C>A (n.*1197C>A) c.1750C>A (n.1750C>A) c.1370C>A (p.Pro457His) c.1418C>A (p.Pro473His) c.1514C>A (p.Pro505His) c.1460C>A (p.Pro487His) c.1421C>A (p.Pro474His) | |
18 | g.33738942C= | CA2294855754 | ASXL3 | c.1541C= (p.Pro514=) c.1538C= (p.Pro513=) c.*662C= (n.*662C=) c.*1197C= (n.*1197C=) c.1750C= (n.1750C=) c.1370C= (p.Pro457=) c.1418C= (p.Pro473=) c.1514C= (p.Pro505=) c.1460C= (p.Pro487=) c.1421C= (p.Pro474=) | |
18 | g.33738942C>G | CA402175798 | ASXL3 | c.1541C>G (p.Pro514Arg) c.1538C>G (p.Pro513Arg) c.*662C>G (n.*662C>G) c.*1197C>G (n.*1197C>G) c.1750C>G (n.1750C>G) c.1370C>G (p.Pro457Arg) c.1418C>G (p.Pro473Arg) c.1514C>G (p.Pro505Arg) c.1460C>G (p.Pro487Arg) c.1421C>G (p.Pro474Arg) | gnomAD v4 |
18 | g.33738942C>T | CA402175797 | ASXL3 | c.1541C>T (p.Pro514Leu) c.1538C>T (p.Pro513Leu) c.*662C>T (n.*662C>T) c.*1197C>T (n.*1197C>T) c.1750C>T (n.1750C>T) c.1370C>T (p.Pro457Leu) c.1418C>T (p.Pro473Leu) c.1514C>T (p.Pro505Leu) c.1460C>T (p.Pro487Leu) c.1421C>T (p.Pro474Leu) | dbSNP gnomAD v4 |
18 | g.33738943T>A | CA503768449 | ASXL3 | c.1542T>A (p.Pro514=) c.1539T>A (p.Pro513=) c.*663T>A (n.*663T>A) c.*1198T>A (n.*1198T>A) c.1751T>A (n.1751T>A) c.1371T>A (p.Pro457=) c.1419T>A (p.Pro473=) c.1515T>A (p.Pro505=) c.1461T>A (p.Pro487=) c.1422T>A (p.Pro474=) | |
18 | g.33738943T>C | CA503768451 | ASXL3 | c.1542T>C (p.Pro514=) c.1539T>C (p.Pro513=) c.*663T>C (n.*663T>C) c.*1198T>C (n.*1198T>C) c.1751T>C (n.1751T>C) c.1371T>C (p.Pro457=) c.1419T>C (p.Pro473=) c.1515T>C (p.Pro505=) c.1461T>C (p.Pro487=) c.1422T>C (p.Pro474=) | |
18 | g.33738943T>G | CA503768453 | ASXL3 | c.1542T>G (p.Pro514=) c.1539T>G (p.Pro513=) c.*663T>G (n.*663T>G) c.*1198T>G (n.*1198T>G) c.1751T>G (n.1751T>G) c.1371T>G (p.Pro457=) c.1419T>G (p.Pro473=) c.1515T>G (p.Pro505=) c.1461T>G (p.Pro487=) c.1422T>G (p.Pro474=) | |
18 | g.33738944C>A | CA402175799 | ASXL3 | c.1543C>A (p.His515Asn) c.1540C>A (p.His514Asn) c.*664C>A (n.*664C>A) c.*1199C>A (n.*1199C>A) c.1752C>A (n.1752C>A) c.1372C>A (p.His458Asn) c.1420C>A (p.His474Asn) c.1516C>A (p.His506Asn) c.1462C>A (p.His488Asn) c.1423C>A (p.His475Asn) | |
18 | g.33738944C= | CA2294855755 | ASXL3 | c.1543C= (p.His515=) c.1540C= (p.His514=) c.*664C= (n.*664C=) c.*1199C= (n.*1199C=) c.1752C= (n.1752C=) c.1372C= (p.His458=) c.1420C= (p.His474=) c.1516C= (p.His506=) c.1462C= (p.His488=) c.1423C= (p.His475=) | |
18 | g.33738944C>G | CA402175800 | ASXL3 | c.1543C>G (p.His515Asp) c.1540C>G (p.His514Asp) c.*664C>G (n.*664C>G) c.*1199C>G (n.*1199C>G) c.1752C>G (n.1752C>G) c.1372C>G (p.His458Asp) c.1420C>G (p.His474Asp) c.1516C>G (p.His506Asp) c.1462C>G (p.His488Asp) c.1423C>G (p.His475Asp) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33738944C>T | CA297786760 | ASXL3 | c.1543C>T (p.His515Tyr) c.1540C>T (p.His514Tyr) c.*664C>T (n.*664C>T) c.*1199C>T (n.*1199C>T) c.1752C>T (n.1752C>T) c.1372C>T (p.His458Tyr) c.1420C>T (p.His474Tyr) c.1516C>T (p.His506Tyr) c.1462C>T (p.His488Tyr) c.1423C>T (p.His475Tyr) | dbSNP gnomAD v4 |
18 | g.33738945A>C | CA402175801 | ASXL3 | c.1544A>C (p.His515Pro) c.1541A>C (p.His514Pro) c.*665A>C (n.*665A>C) c.*1200A>C (n.*1200A>C) c.1753A>C (n.1753A>C) c.1373A>C (p.His458Pro) c.1421A>C (p.His474Pro) c.1517A>C (p.His506Pro) c.1463A>C (p.His488Pro) c.1424A>C (p.His475Pro) | |
18 | g.33738945A>G | CA402175802 | ASXL3 | c.1544A>G (p.His515Arg) c.1541A>G (p.His514Arg) c.*665A>G (n.*665A>G) c.*1200A>G (n.*1200A>G) c.1753A>G (n.1753A>G) c.1373A>G (p.His458Arg) c.1421A>G (p.His474Arg) c.1517A>G (p.His506Arg) c.1463A>G (p.His488Arg) c.1424A>G (p.His475Arg) | |
18 | g.33738945A>T | CA402175803 | ASXL3 | c.1544A>T (p.His515Leu) c.1541A>T (p.His514Leu) c.*665A>T (n.*665A>T) c.*1200A>T (n.*1200A>T) c.1753A>T (n.1753A>T) c.1373A>T (p.His458Leu) c.1421A>T (p.His474Leu) c.1517A>T (p.His506Leu) c.1463A>T (p.His488Leu) c.1424A>T (p.His475Leu) | |
18 | g.33738946T>A | CA402175804 | ASXL3 | c.1545T>A (p.His515Gln) c.1542T>A (p.His514Gln) c.*666T>A (n.*666T>A) c.*1201T>A (n.*1201T>A) c.1754T>A (n.1754T>A) c.1374T>A (p.His458Gln) c.1422T>A (p.His474Gln) c.1518T>A (p.His506Gln) c.1464T>A (p.His488Gln) c.1425T>A (p.His475Gln) | |
18 | g.33738946T>C | CA503768459 | ASXL3 | c.1545T>C (p.His515=) c.1542T>C (p.His514=) c.*666T>C (n.*666T>C) c.*1201T>C (n.*1201T>C) c.1754T>C (n.1754T>C) c.1374T>C (p.His458=) c.1422T>C (p.His474=) c.1518T>C (p.His506=) c.1464T>C (p.His488=) c.1425T>C (p.His475=) | |
18 | g.33738946T>G | CA402175805 | ASXL3 | c.1545T>G (p.His515Gln) c.1542T>G (p.His514Gln) c.*666T>G (n.*666T>G) c.*1201T>G (n.*1201T>G) c.1754T>G (n.1754T>G) c.1374T>G (p.His458Gln) c.1422T>G (p.His474Gln) c.1518T>G (p.His506Gln) c.1464T>G (p.His488Gln) c.1425T>G (p.His475Gln) | |
18 | g.33738947A>C | CA402175806 | ASXL3 | c.1546A>C (p.Ile516Leu) c.1543A>C (p.Ile515Leu) c.*667A>C (n.*667A>C) c.*1202A>C (n.*1202A>C) c.1755A>C (n.1755A>C) c.1375A>C (p.Ile459Leu) c.1423A>C (p.Ile475Leu) c.1519A>C (p.Ile507Leu) c.1465A>C (p.Ile489Leu) c.1426A>C (p.Ile476Leu) | |
18 | g.33738947A>G | CA402175807 | ASXL3 | c.1546A>G (p.Ile516Val) c.1543A>G (p.Ile515Val) c.*667A>G (n.*667A>G) c.*1202A>G (n.*1202A>G) c.1755A>G (n.1755A>G) c.1375A>G (p.Ile459Val) c.1423A>G (p.Ile475Val) c.1519A>G (p.Ile507Val) c.1465A>G (p.Ile489Val) c.1426A>G (p.Ile476Val) | COSMIC COSMIC |
18 | g.33738947A>T | CA402175808 | ASXL3 | c.1546A>T (p.Ile516Phe) c.1543A>T (p.Ile515Phe) c.*667A>T (n.*667A>T) c.*1202A>T (n.*1202A>T) c.1755A>T (n.1755A>T) c.1375A>T (p.Ile459Phe) c.1423A>T (p.Ile475Phe) c.1519A>T (p.Ile507Phe) c.1465A>T (p.Ile489Phe) c.1426A>T (p.Ile476Phe) | |
18 | g.33738948T>A | CA402175811 | ASXL3 | c.1547T>A (p.Ile516Asn) c.1544T>A (p.Ile515Asn) c.*668T>A (n.*668T>A) c.*1203T>A (n.*1203T>A) c.1756T>A (n.1756T>A) c.1376T>A (p.Ile459Asn) c.1424T>A (p.Ile475Asn) c.1520T>A (p.Ile507Asn) c.1466T>A (p.Ile489Asn) c.1427T>A (p.Ile476Asn) | |
18 | g.33738948T>C | CA402175809 | ASXL3 | c.1547T>C (p.Ile516Thr) c.1544T>C (p.Ile515Thr) c.*668T>C (n.*668T>C) c.*1203T>C (n.*1203T>C) c.1756T>C (n.1756T>C) c.1376T>C (p.Ile459Thr) c.1424T>C (p.Ile475Thr) c.1520T>C (p.Ile507Thr) c.1466T>C (p.Ile489Thr) c.1427T>C (p.Ile476Thr) | |
18 | g.33738948T>G | CA402175810 | ASXL3 | c.1547T>G (p.Ile516Ser) c.1544T>G (p.Ile515Ser) c.*668T>G (n.*668T>G) c.*1203T>G (n.*1203T>G) c.1756T>G (n.1756T>G) c.1376T>G (p.Ile459Ser) c.1424T>G (p.Ile475Ser) c.1520T>G (p.Ile507Ser) c.1466T>G (p.Ile489Ser) c.1427T>G (p.Ile476Ser) | |
18 | g.33738948T= | CA2294855756 | ASXL3 | c.1547T= (p.Ile516=) c.1544T= (p.Ile515=) c.*668T= (n.*668T=) c.*1203T= (n.*1203T=) c.1756T= (n.1756T=) c.1376T= (p.Ile459=) c.1424T= (p.Ile475=) c.1520T= (p.Ile507=) c.1466T= (p.Ile489=) c.1427T= (p.Ile476=) | |
18 | g.33738949T>A | CA503768465 | ASXL3 | c.1548T>A (p.Ile516=) c.1545T>A (p.Ile515=) c.*669T>A (n.*669T>A) c.*1204T>A (n.*1204T>A) c.1757T>A (n.1757T>A) c.1377T>A (p.Ile459=) c.1425T>A (p.Ile475=) c.1521T>A (p.Ile507=) c.1467T>A (p.Ile489=) c.1428T>A (p.Ile476=) | |
18 | g.33738949T>C | CA503768466 | ASXL3 | c.1548T>C (p.Ile516=) c.1545T>C (p.Ile515=) c.*669T>C (n.*669T>C) c.*1204T>C (n.*1204T>C) c.1757T>C (n.1757T>C) c.1377T>C (p.Ile459=) c.1425T>C (p.Ile475=) c.1521T>C (p.Ile507=) c.1467T>C (p.Ile489=) c.1428T>C (p.Ile476=) | |
18 | g.33738949T>G | CA402175812 | ASXL3 | c.1548T>G (p.Ile516Met) c.1545T>G (p.Ile515Met) c.*669T>G (n.*669T>G) c.*1204T>G (n.*1204T>G) c.1757T>G (n.1757T>G) c.1377T>G (p.Ile459Met) c.1425T>G (p.Ile475Met) c.1521T>G (p.Ile507Met) c.1467T>G (p.Ile489Met) c.1428T>G (p.Ile476Met) | |
18 | g.33738949_33738957dup | CA8933769 | ASXL3 | c.1548_1556dup (p.Val518_Lys519insAsnGluVal) c.1545_1553dup (p.Val517_Lys518insAsnGluVal) c.*669_*677dup (n.*669_*677dup) c.*1204_*1212dup (n.*1204_*1212dup) c.1757_1765dup (n.1757_1765dup) c.1377_1385dup (p.Val461_Lys462insAsnGluVal) c.1425_1433dup (p.Val477_Lys478insAsnGluVal) c.1521_1529dup (p.Val509_Lys510insAsnGluVal) c.1467_1475dup (p.Val491_Lys492insAsnGluVal) c.1428_1436dup (p.Val478_Lys479insAsnGluVal) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738950G>A | CA402175813 | ASXL3 | c.1549G>A (p.Glu517Lys) c.1546G>A (p.Glu516Lys) c.*670G>A (n.*670G>A) c.*1205G>A (n.*1205G>A) c.1758G>A (n.1758G>A) c.1378G>A (p.Glu460Lys) c.1426G>A (p.Glu476Lys) c.1522G>A (p.Glu508Lys) c.1468G>A (p.Glu490Lys) c.1429G>A (p.Glu477Lys) | |
18 | g.33738950G>C | CA402175814 | ASXL3 | c.1549G>C (p.Glu517Gln) c.1546G>C (p.Glu516Gln) c.*670G>C (n.*670G>C) c.*1205G>C (n.*1205G>C) c.1758G>C (n.1758G>C) c.1378G>C (p.Glu460Gln) c.1426G>C (p.Glu476Gln) c.1522G>C (p.Glu508Gln) c.1468G>C (p.Glu490Gln) c.1429G>C (p.Glu477Gln) | |
18 | g.33738950G>T | CA402175815 | ASXL3 | c.1549G>T (p.Glu517Ter) c.1546G>T (p.Glu516Ter) c.*670G>T (n.*670G>T) c.*1205G>T (n.*1205G>T) c.1758G>T (n.1758G>T) c.1378G>T (p.Glu460Ter) c.1426G>T (p.Glu476Ter) c.1522G>T (p.Glu508Ter) c.1468G>T (p.Glu490Ter) c.1429G>T (p.Glu477Ter) | |
18 | g.33738951A>C | CA402175816 | ASXL3 | c.1550A>C (p.Glu517Ala) c.1547A>C (p.Glu516Ala) c.*671A>C (n.*671A>C) c.*1206A>C (n.*1206A>C) c.1759A>C (n.1759A>C) c.1379A>C (p.Glu460Ala) c.1427A>C (p.Glu476Ala) c.1523A>C (p.Glu508Ala) c.1469A>C (p.Glu490Ala) c.1430A>C (p.Glu477Ala) | |
18 | g.33738951A>G | CA402175817 | ASXL3 | c.1550A>G (p.Glu517Gly) c.1547A>G (p.Glu516Gly) c.*671A>G (n.*671A>G) c.*1206A>G (n.*1206A>G) c.1759A>G (n.1759A>G) c.1379A>G (p.Glu460Gly) c.1427A>G (p.Glu476Gly) c.1523A>G (p.Glu508Gly) c.1469A>G (p.Glu490Gly) c.1430A>G (p.Glu477Gly) | |
18 | g.33738951A>T | CA402175818 | ASXL3 | c.1550A>T (p.Glu517Val) c.1547A>T (p.Glu516Val) c.*671A>T (n.*671A>T) c.*1206A>T (n.*1206A>T) c.1759A>T (n.1759A>T) c.1379A>T (p.Glu460Val) c.1427A>T (p.Glu476Val) c.1523A>T (p.Glu508Val) c.1469A>T (p.Glu490Val) c.1430A>T (p.Glu477Val) | |
18 | g.33738952A>C | CA402175819 | ASXL3 | c.1551A>C (p.Glu517Asp) c.1548A>C (p.Glu516Asp) c.*672A>C (n.*672A>C) c.*1207A>C (n.*1207A>C) c.1760A>C (n.1760A>C) c.1380A>C (p.Glu460Asp) c.1428A>C (p.Glu476Asp) c.1524A>C (p.Glu508Asp) c.1470A>C (p.Glu490Asp) c.1431A>C (p.Glu477Asp) | |
18 | g.33738952A>G | CA503768469 | ASXL3 | c.1551A>G (p.Glu517=) c.1548A>G (p.Glu516=) c.*672A>G (n.*672A>G) c.*1207A>G (n.*1207A>G) c.1760A>G (n.1760A>G) c.1380A>G (p.Glu460=) c.1428A>G (p.Glu476=) c.1524A>G (p.Glu508=) c.1470A>G (p.Glu490=) c.1431A>G (p.Glu477=) | |
18 | g.33738952A>T | CA402175820 | ASXL3 | c.1551A>T (p.Glu517Asp) c.1548A>T (p.Glu516Asp) c.*672A>T (n.*672A>T) c.*1207A>T (n.*1207A>T) c.1760A>T (n.1760A>T) c.1380A>T (p.Glu460Asp) c.1428A>T (p.Glu476Asp) c.1524A>T (p.Glu508Asp) c.1470A>T (p.Glu490Asp) c.1431A>T (p.Glu477Asp) | |
18 | g.33738953G>A | CA402175822 | ASXL3 | c.1552G>A (p.Val518Ile) c.1549G>A (p.Val517Ile) c.*673G>A (n.*673G>A) c.*1208G>A (n.*1208G>A) c.1761G>A (n.1761G>A) c.1381G>A (p.Val461Ile) c.1429G>A (p.Val477Ile) c.1525G>A (p.Val509Ile) c.1471G>A (p.Val491Ile) c.1432G>A (p.Val478Ile) | dbSNP gnomAD v4 |
18 | g.33738953G>C | CA402175823 | ASXL3 | c.1552G>C (p.Val518Leu) c.1549G>C (p.Val517Leu) c.*673G>C (n.*673G>C) c.*1208G>C (n.*1208G>C) c.1761G>C (n.1761G>C) c.1381G>C (p.Val461Leu) c.1429G>C (p.Val477Leu) c.1525G>C (p.Val509Leu) c.1471G>C (p.Val491Leu) c.1432G>C (p.Val478Leu) | |
18 | g.33738953G>T | CA402175821 | ASXL3 | c.1552G>T (p.Val518Phe) c.1549G>T (p.Val517Phe) c.*673G>T (n.*673G>T) c.*1208G>T (n.*1208G>T) c.1761G>T (n.1761G>T) c.1381G>T (p.Val461Phe) c.1429G>T (p.Val477Phe) c.1525G>T (p.Val509Phe) c.1471G>T (p.Val491Phe) c.1432G>T (p.Val478Phe) | gnomAD v4 |
18 | g.33738954T>A | CA402175824 | ASXL3 | c.1553T>A (p.Val518Asp) c.1550T>A (p.Val517Asp) c.*674T>A (n.*674T>A) c.*1209T>A (n.*1209T>A) c.1762T>A (n.1762T>A) c.1382T>A (p.Val461Asp) c.1430T>A (p.Val477Asp) c.1526T>A (p.Val509Asp) c.1472T>A (p.Val491Asp) c.1433T>A (p.Val478Asp) | |
18 | g.33738954T>C | CA402175825 | ASXL3 | c.1553T>C (p.Val518Ala) c.1550T>C (p.Val517Ala) c.*674T>C (n.*674T>C) c.*1209T>C (n.*1209T>C) c.1762T>C (n.1762T>C) c.1382T>C (p.Val461Ala) c.1430T>C (p.Val477Ala) c.1526T>C (p.Val509Ala) c.1472T>C (p.Val491Ala) c.1433T>C (p.Val478Ala) | |
18 | g.33738954T>G | CA402175826 | ASXL3 | c.1553T>G (p.Val518Gly) c.1550T>G (p.Val517Gly) c.*674T>G (n.*674T>G) c.*1209T>G (n.*1209T>G) c.1762T>G (n.1762T>G) c.1382T>G (p.Val461Gly) c.1430T>G (p.Val477Gly) c.1526T>G (p.Val509Gly) c.1472T>G (p.Val491Gly) c.1433T>G (p.Val478Gly) | |
18 | g.33738955T>A | CA503768473 | ASXL3 | c.1554T>A (p.Val518=) c.1551T>A (p.Val517=) c.*675T>A (n.*675T>A) c.*1210T>A (n.*1210T>A) c.1763T>A (n.1763T>A) c.1383T>A (p.Val461=) c.1431T>A (p.Val477=) c.1527T>A (p.Val509=) c.1473T>A (p.Val491=) c.1434T>A (p.Val478=) | |
18 | g.33738955T>C | CA503768474 | ASXL3 | c.1554T>C (p.Val518=) c.1551T>C (p.Val517=) c.*675T>C (n.*675T>C) c.*1210T>C (n.*1210T>C) c.1763T>C (n.1763T>C) c.1383T>C (p.Val461=) c.1431T>C (p.Val477=) c.1527T>C (p.Val509=) c.1473T>C (p.Val491=) c.1434T>C (p.Val478=) | |
18 | g.33738955T>G | CA503768475 | ASXL3 | c.1554T>G (p.Val518=) c.1551T>G (p.Val517=) c.*675T>G (n.*675T>G) c.*1210T>G (n.*1210T>G) c.1763T>G (n.1763T>G) c.1383T>G (p.Val461=) c.1431T>G (p.Val477=) c.1527T>G (p.Val509=) c.1473T>G (p.Val491=) c.1434T>G (p.Val478=) | gnomAD v4 |
18 | g.33738956A>C | CA402175827 | ASXL3 | c.1555A>C (p.Lys519Gln) c.1552A>C (p.Lys518Gln) c.*676A>C (n.*676A>C) c.*1211A>C (n.*1211A>C) c.1764A>C (n.1764A>C) c.1384A>C (p.Lys462Gln) c.1432A>C (p.Lys478Gln) c.1528A>C (p.Lys510Gln) c.1474A>C (p.Lys492Gln) c.1435A>C (p.Lys479Gln) | |
18 | g.33738956A>G | CA402175828 | ASXL3 | c.1555A>G (p.Lys519Glu) c.1552A>G (p.Lys518Glu) c.*676A>G (n.*676A>G) c.*1211A>G (n.*1211A>G) c.1764A>G (n.1764A>G) c.1384A>G (p.Lys462Glu) c.1432A>G (p.Lys478Glu) c.1528A>G (p.Lys510Glu) c.1474A>G (p.Lys492Glu) c.1435A>G (p.Lys479Glu) | |
18 | g.33738956A>T | CA402175829 | ASXL3 | c.1555A>T (p.Lys519Ter) c.1552A>T (p.Lys518Ter) c.*676A>T (n.*676A>T) c.*1211A>T (n.*1211A>T) c.1764A>T (n.1764A>T) c.1384A>T (p.Lys462Ter) c.1432A>T (p.Lys478Ter) c.1528A>T (p.Lys510Ter) c.1474A>T (p.Lys492Ter) c.1435A>T (p.Lys479Ter) | |
18 | g.33738956_33738959del | CA2825002679 | ASXL3 | c.1555_1558del (p.Lys519Ter) c.1552_1555del (p.Lys518Ter) c.*676_*679del (n.*676_*679del) c.*1211_*1214del (n.*1211_*1214del) c.1764_1767del (n.1764_1767del) c.1384_1387del (p.Lys462Ter) c.1432_1435del (p.Lys478Ter) c.1528_1531del (p.Lys510Ter) c.1474_1477del (p.Lys492Ter) c.1435_1438del (p.Lys479Ter) | ClinVar |
18 | g.33738957A>C | CA402175832 | ASXL3 | c.1556A>C (p.Lys519Thr) c.1553A>C (p.Lys518Thr) c.*677A>C (n.*677A>C) c.*1212A>C (n.*1212A>C) c.1765A>C (n.1765A>C) c.1385A>C (p.Lys462Thr) c.1433A>C (p.Lys478Thr) c.1529A>C (p.Lys510Thr) c.1475A>C (p.Lys492Thr) c.1436A>C (p.Lys479Thr) | |
18 | g.33738957A>G | CA402175830 | ASXL3 | c.1556A>G (p.Lys519Arg) c.1553A>G (p.Lys518Arg) c.*677A>G (n.*677A>G) c.*1212A>G (n.*1212A>G) c.1765A>G (n.1765A>G) c.1385A>G (p.Lys462Arg) c.1433A>G (p.Lys478Arg) c.1529A>G (p.Lys510Arg) c.1475A>G (p.Lys492Arg) c.1436A>G (p.Lys479Arg) | |
18 | g.33738957A>T | CA402175831 | ASXL3 | c.1556A>T (p.Lys519Met) c.1553A>T (p.Lys518Met) c.*677A>T (n.*677A>T) c.*1212A>T (n.*1212A>T) c.1765A>T (n.1765A>T) c.1385A>T (p.Lys462Met) c.1433A>T (p.Lys478Met) c.1529A>T (p.Lys510Met) c.1475A>T (p.Lys492Met) c.1436A>T (p.Lys479Met) | |
18 | g.33738958G>A | CA503768482 | ASXL3 | c.1557G>A (p.Lys519=) c.1554G>A (p.Lys518=) c.*678G>A (n.*678G>A) c.*1213G>A (n.*1213G>A) c.1766G>A (n.1766G>A) c.1386G>A (p.Lys462=) c.1434G>A (p.Lys478=) c.1530G>A (p.Lys510=) c.1476G>A (p.Lys492=) c.1437G>A (p.Lys479=) | |
18 | g.33738958G>C | CA402175833 | ASXL3 | c.1557G>C (p.Lys519Asn) c.1554G>C (p.Lys518Asn) c.*678G>C (n.*678G>C) c.*1213G>C (n.*1213G>C) c.1766G>C (n.1766G>C) c.1386G>C (p.Lys462Asn) c.1434G>C (p.Lys478Asn) c.1530G>C (p.Lys510Asn) c.1476G>C (p.Lys492Asn) c.1437G>C (p.Lys479Asn) | |
18 | g.33738958G>T | CA402175834 | ASXL3 | c.1557G>T (p.Lys519Asn) c.1554G>T (p.Lys518Asn) c.*678G>T (n.*678G>T) c.*1213G>T (n.*1213G>T) c.1766G>T (n.1766G>T) c.1386G>T (p.Lys462Asn) c.1434G>T (p.Lys478Asn) c.1530G>T (p.Lys510Asn) c.1476G>T (p.Lys492Asn) c.1437G>T (p.Lys479Asn) | |
18 | g.33738959A>C | CA402175835 | ASXL3 | c.1558A>C (p.Ile520Leu) c.1555A>C (p.Ile519Leu) c.*679A>C (n.*679A>C) c.*1214A>C (n.*1214A>C) c.1767A>C (n.1767A>C) c.1387A>C (p.Ile463Leu) c.1435A>C (p.Ile479Leu) c.1531A>C (p.Ile511Leu) c.1477A>C (p.Ile493Leu) c.1438A>C (p.Ile480Leu) | |
18 | g.33738959A>G | CA402175836 | ASXL3 | c.1558A>G (p.Ile520Val) c.1555A>G (p.Ile519Val) c.*679A>G (n.*679A>G) c.*1214A>G (n.*1214A>G) c.1767A>G (n.1767A>G) c.1387A>G (p.Ile463Val) c.1435A>G (p.Ile479Val) c.1531A>G (p.Ile511Val) c.1477A>G (p.Ile493Val) c.1438A>G (p.Ile480Val) | dbSNP gnomAD v4 |
18 | g.33738959A>T | CA402175837 | ASXL3 | c.1558A>T (p.Ile520Leu) c.1555A>T (p.Ile519Leu) c.*679A>T (n.*679A>T) c.*1214A>T (n.*1214A>T) c.1767A>T (n.1767A>T) c.1387A>T (p.Ile463Leu) c.1435A>T (p.Ile479Leu) c.1531A>T (p.Ile511Leu) c.1477A>T (p.Ile493Leu) c.1438A>T (p.Ile480Leu) | |
18 | g.33738960T>A | CA402175838 | ASXL3 | c.1559T>A (p.Ile520Lys) c.1556T>A (p.Ile519Lys) c.*680T>A (n.*680T>A) c.*1215T>A (n.*1215T>A) c.1768T>A (n.1768T>A) c.1388T>A (p.Ile463Lys) c.1436T>A (p.Ile479Lys) c.1532T>A (p.Ile511Lys) c.1478T>A (p.Ile493Lys) c.1439T>A (p.Ile480Lys) | |
18 | g.33738960T>C | CA8933770 | ASXL3 | c.1559T>C (p.Ile520Thr) c.1556T>C (p.Ile519Thr) c.*680T>C (n.*680T>C) c.*1215T>C (n.*1215T>C) c.1768T>C (n.1768T>C) c.1388T>C (p.Ile463Thr) c.1436T>C (p.Ile479Thr) c.1532T>C (p.Ile511Thr) c.1478T>C (p.Ile493Thr) c.1439T>C (p.Ile480Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738960T>G | CA402175839 | ASXL3 | c.1559T>G (p.Ile520Arg) c.1556T>G (p.Ile519Arg) c.*680T>G (n.*680T>G) c.*1215T>G (n.*1215T>G) c.1768T>G (n.1768T>G) c.1388T>G (p.Ile463Arg) c.1436T>G (p.Ile479Arg) c.1532T>G (p.Ile511Arg) c.1478T>G (p.Ile493Arg) c.1439T>G (p.Ile480Arg) | |
18 | g.33738960T= | CA2294855757 | ASXL3 | c.1559T= (p.Ile520=) c.1556T= (p.Ile519=) c.*680T= (n.*680T=) c.*1215T= (n.*1215T=) c.1768T= (n.1768T=) c.1388T= (p.Ile463=) c.1436T= (p.Ile479=) c.1532T= (p.Ile511=) c.1478T= (p.Ile493=) c.1439T= (p.Ile480=) | |
18 | g.33738961A>C | CA503768487 | ASXL3 | c.1560A>C (p.Ile520=) c.1557A>C (p.Ile519=) c.*681A>C (n.*681A>C) c.*1216A>C (n.*1216A>C) c.1769A>C (n.1769A>C) c.1389A>C (p.Ile463=) c.1437A>C (p.Ile479=) c.1533A>C (p.Ile511=) c.1479A>C (p.Ile493=) c.1440A>C (p.Ile480=) | |
18 | g.33738961A>G | CA402175840 | ASXL3 | c.1560A>G (p.Ile520Met) c.1557A>G (p.Ile519Met) c.*681A>G (n.*681A>G) c.*1216A>G (n.*1216A>G) c.1769A>G (n.1769A>G) c.1389A>G (p.Ile463Met) c.1437A>G (p.Ile479Met) c.1533A>G (p.Ile511Met) c.1479A>G (p.Ile493Met) c.1440A>G (p.Ile480Met) | |
18 | g.33738961A>T | CA503768488 | ASXL3 | c.1560A>T (p.Ile520=) c.1557A>T (p.Ile519=) c.*681A>T (n.*681A>T) c.*1216A>T (n.*1216A>T) c.1769A>T (n.1769A>T) c.1389A>T (p.Ile463=) c.1437A>T (p.Ile479=) c.1533A>T (p.Ile511=) c.1479A>T (p.Ile493=) c.1440A>T (p.Ile480=) | |
18 | g.33738962G>A | CA402175841 | ASXL3 | c.1561G>A (p.Glu521Lys) c.1558G>A (p.Glu520Lys) c.*682G>A (n.*682G>A) c.*1217G>A (n.*1217G>A) c.1770G>A (n.1770G>A) c.1390G>A (p.Glu464Lys) c.1438G>A (p.Glu480Lys) c.1534G>A (p.Glu512Lys) c.1480G>A (p.Glu494Lys) c.1441G>A (p.Glu481Lys) | COSMIC COSMIC |
18 | g.33738962G>C | CA402175842 | ASXL3 | c.1561G>C (p.Glu521Gln) c.1558G>C (p.Glu520Gln) c.*682G>C (n.*682G>C) c.*1217G>C (n.*1217G>C) c.1770G>C (n.1770G>C) c.1390G>C (p.Glu464Gln) c.1438G>C (p.Glu480Gln) c.1534G>C (p.Glu512Gln) c.1480G>C (p.Glu494Gln) c.1441G>C (p.Glu481Gln) | |
18 | g.33738962G>T | CA402175843 | ASXL3 | c.1561G>T (p.Glu521Ter) c.1558G>T (p.Glu520Ter) c.*682G>T (n.*682G>T) c.*1217G>T (n.*1217G>T) c.1770G>T (n.1770G>T) c.1390G>T (p.Glu464Ter) c.1438G>T (p.Glu480Ter) c.1534G>T (p.Glu512Ter) c.1480G>T (p.Glu494Ter) c.1441G>T (p.Glu481Ter) | |
18 | g.33738963A>C | CA402175844 | ASXL3 | c.1562A>C (p.Glu521Ala) c.1559A>C (p.Glu520Ala) c.*683A>C (n.*683A>C) c.*1218A>C (n.*1218A>C) c.1771A>C (n.1771A>C) c.1391A>C (p.Glu464Ala) c.1439A>C (p.Glu480Ala) c.1535A>C (p.Glu512Ala) c.1481A>C (p.Glu494Ala) c.1442A>C (p.Glu481Ala) | |
18 | g.33738963A>G | CA402175845 | ASXL3 | c.1562A>G (p.Glu521Gly) c.1559A>G (p.Glu520Gly) c.*683A>G (n.*683A>G) c.*1218A>G (n.*1218A>G) c.1771A>G (n.1771A>G) c.1391A>G (p.Glu464Gly) c.1439A>G (p.Glu480Gly) c.1535A>G (p.Glu512Gly) c.1481A>G (p.Glu494Gly) c.1442A>G (p.Glu481Gly) | |
18 | g.33738963A>T | CA402175846 | ASXL3 | c.1562A>T (p.Glu521Val) c.1559A>T (p.Glu520Val) c.*683A>T (n.*683A>T) c.*1218A>T (n.*1218A>T) c.1771A>T (n.1771A>T) c.1391A>T (p.Glu464Val) c.1439A>T (p.Glu480Val) c.1535A>T (p.Glu512Val) c.1481A>T (p.Glu494Val) c.1442A>T (p.Glu481Val) | |
18 | g.33738964A>C | CA402175847 | ASXL3 | c.1563A>C (p.Glu521Asp) c.1560A>C (p.Glu520Asp) c.*684A>C (n.*684A>C) c.*1219A>C (n.*1219A>C) c.1772A>C (n.1772A>C) c.1392A>C (p.Glu464Asp) c.1440A>C (p.Glu480Asp) c.1536A>C (p.Glu512Asp) c.1482A>C (p.Glu494Asp) c.1443A>C (p.Glu481Asp) | |
18 | g.33738964A>G | CA503768492 | ASXL3 | c.1563A>G (p.Glu521=) c.1560A>G (p.Glu520=) c.*684A>G (n.*684A>G) c.*1219A>G (n.*1219A>G) c.1772A>G (n.1772A>G) c.1392A>G (p.Glu464=) c.1440A>G (p.Glu480=) c.1536A>G (p.Glu512=) c.1482A>G (p.Glu494=) c.1443A>G (p.Glu481=) | |
18 | g.33738964A>T | CA402175848 | ASXL3 | c.1563A>T (p.Glu521Asp) c.1560A>T (p.Glu520Asp) c.*684A>T (n.*684A>T) c.*1219A>T (n.*1219A>T) c.1772A>T (n.1772A>T) c.1392A>T (p.Glu464Asp) c.1440A>T (p.Glu480Asp) c.1536A>T (p.Glu512Asp) c.1482A>T (p.Glu494Asp) c.1443A>T (p.Glu481Asp) | |
18 | g.33738965G>A | CA402175849 | ASXL3 | c.1564G>A (p.Gly522Arg) c.1561G>A (p.Gly521Arg) c.*685G>A (n.*685G>A) c.*1220G>A (n.*1220G>A) c.1773G>A (n.1773G>A) c.1393G>A (p.Gly465Arg) c.1441G>A (p.Gly481Arg) c.1537G>A (p.Gly513Arg) c.1483G>A (p.Gly495Arg) c.1444G>A (p.Gly482Arg) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33738965G>C | CA402175850 | ASXL3 | c.1564G>C (p.Gly522Arg) c.1561G>C (p.Gly521Arg) c.*685G>C (n.*685G>C) c.*1220G>C (n.*1220G>C) c.1773G>C (n.1773G>C) c.1393G>C (p.Gly465Arg) c.1441G>C (p.Gly481Arg) c.1537G>C (p.Gly513Arg) c.1483G>C (p.Gly495Arg) c.1444G>C (p.Gly482Arg) | |
18 | g.33738965G= | CA2294855758 | ASXL3 | c.1564G= (p.Gly522=) c.1561G= (p.Gly521=) c.*685G= (n.*685G=) c.*1220G= (n.*1220G=) c.1773G= (n.1773G=) c.1393G= (p.Gly465=) c.1441G= (p.Gly481=) c.1537G= (p.Gly513=) c.1483G= (p.Gly495=) c.1444G= (p.Gly482=) | |
18 | g.33738965G>T | CA402175851 | ASXL3 | c.1564G>T (p.Gly522Trp) c.1561G>T (p.Gly521Trp) c.*685G>T (n.*685G>T) c.*1220G>T (n.*1220G>T) c.1773G>T (n.1773G>T) c.1393G>T (p.Gly465Trp) c.1441G>T (p.Gly481Trp) c.1537G>T (p.Gly513Trp) c.1483G>T (p.Gly495Trp) c.1444G>T (p.Gly482Trp) | |
18 | g.33738966G>A | CA402175853 | ASXL3 | c.1565G>A (p.Gly522Glu) c.1562G>A (p.Gly521Glu) c.*686G>A (n.*686G>A) c.*1221G>A (n.*1221G>A) c.1774G>A (n.1774G>A) c.1394G>A (p.Gly465Glu) c.1442G>A (p.Gly481Glu) c.1538G>A (p.Gly513Glu) c.1484G>A (p.Gly495Glu) c.1445G>A (p.Gly482Glu) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33738966G>C | CA402175854 | ASXL3 | c.1565G>C (p.Gly522Ala) c.1562G>C (p.Gly521Ala) c.*686G>C (n.*686G>C) c.*1221G>C (n.*1221G>C) c.1774G>C (n.1774G>C) c.1394G>C (p.Gly465Ala) c.1442G>C (p.Gly481Ala) c.1538G>C (p.Gly513Ala) c.1484G>C (p.Gly495Ala) c.1445G>C (p.Gly482Ala) | gnomAD v4 |
18 | g.33738966G>T | CA402175852 | ASXL3 | c.1565G>T (p.Gly522Val) c.1562G>T (p.Gly521Val) c.*686G>T (n.*686G>T) c.*1221G>T (n.*1221G>T) c.1774G>T (n.1774G>T) c.1394G>T (p.Gly465Val) c.1442G>T (p.Gly481Val) c.1538G>T (p.Gly513Val) c.1484G>T (p.Gly495Val) c.1445G>T (p.Gly482Val) | |
18 | g.33738967G>A | CA297786776 | ASXL3 | c.1566G>A (p.Gly522=) c.1563G>A (p.Gly521=) c.*687G>A (n.*687G>A) c.*1222G>A (n.*1222G>A) c.1775G>A (n.1775G>A) c.1395G>A (p.Gly465=) c.1443G>A (p.Gly481=) c.1539G>A (p.Gly513=) c.1485G>A (p.Gly495=) c.1446G>A (p.Gly482=) | dbSNP |
18 | g.33738967G>C | CA503768616 | ASXL3 | c.1566G>C (p.Gly522=) c.1563G>C (p.Gly521=) c.*687G>C (n.*687G>C) c.*1222G>C (n.*1222G>C) c.1775G>C (n.1775G>C) c.1395G>C (p.Gly465=) c.1443G>C (p.Gly481=) c.1539G>C (p.Gly513=) c.1485G>C (p.Gly495=) c.1446G>C (p.Gly482=) | |
18 | g.33738967G= | CA2294855759 | ASXL3 | c.1566G= (p.Gly522=) c.1563G= (p.Gly521=) c.*687G= (n.*687G=) c.*1222G= (n.*1222G=) c.1775G= (n.1775G=) c.1395G= (p.Gly465=) c.1443G= (p.Gly481=) c.1539G= (p.Gly513=) c.1485G= (p.Gly495=) c.1446G= (p.Gly482=) | |
18 | g.33738967G>T | CA503768615 | ASXL3 | c.1566G>T (p.Gly522=) c.1563G>T (p.Gly521=) c.*687G>T (n.*687G>T) c.*1222G>T (n.*1222G>T) c.1775G>T (n.1775G>T) c.1395G>T (p.Gly465=) c.1443G>T (p.Gly481=) c.1539G>T (p.Gly513=) c.1485G>T (p.Gly495=) c.1446G>T (p.Gly482=) | |
18 | g.33738968A>C | CA402175855 | ASXL3 | c.1567A>C (p.Lys523Gln) c.1564A>C (p.Lys522Gln) c.*688A>C (n.*688A>C) c.*1223A>C (n.*1223A>C) c.1776A>C (n.1776A>C) c.1396A>C (p.Lys466Gln) c.1444A>C (p.Lys482Gln) c.1540A>C (p.Lys514Gln) c.1486A>C (p.Lys496Gln) c.1447A>C (p.Lys483Gln) | |
18 | g.33738968A>G | CA402175856 | ASXL3 | c.1567A>G (p.Lys523Glu) c.1564A>G (p.Lys522Glu) c.*688A>G (n.*688A>G) c.*1223A>G (n.*1223A>G) c.1776A>G (n.1776A>G) c.1396A>G (p.Lys466Glu) c.1444A>G (p.Lys482Glu) c.1540A>G (p.Lys514Glu) c.1486A>G (p.Lys496Glu) c.1447A>G (p.Lys483Glu) | |
18 | g.33738968A>T | CA402175857 | ASXL3 | c.1567A>T (p.Lys523Ter) c.1564A>T (p.Lys522Ter) c.*688A>T (n.*688A>T) c.*1223A>T (n.*1223A>T) c.1776A>T (n.1776A>T) c.1396A>T (p.Lys466Ter) c.1444A>T (p.Lys482Ter) c.1540A>T (p.Lys514Ter) c.1486A>T (p.Lys496Ter) c.1447A>T (p.Lys483Ter) | |
18 | g.33738969A>C | CA402175858 | ASXL3 | c.1568A>C (p.Lys523Thr) c.1565A>C (p.Lys522Thr) c.*689A>C (n.*689A>C) c.*1224A>C (n.*1224A>C) c.1777A>C (n.1777A>C) c.1397A>C (p.Lys466Thr) c.1445A>C (p.Lys482Thr) c.1541A>C (p.Lys514Thr) c.1487A>C (p.Lys496Thr) c.1448A>C (p.Lys483Thr) | COSMIC COSMIC |
18 | g.33738969A>G | CA402175859 | ASXL3 | c.1568A>G (p.Lys523Arg) c.1565A>G (p.Lys522Arg) c.*689A>G (n.*689A>G) c.*1224A>G (n.*1224A>G) c.1777A>G (n.1777A>G) c.1397A>G (p.Lys466Arg) c.1445A>G (p.Lys482Arg) c.1541A>G (p.Lys514Arg) c.1487A>G (p.Lys496Arg) c.1448A>G (p.Lys483Arg) | gnomAD v4 |
18 | g.33738969A>T | CA402175860 | ASXL3 | c.1568A>T (p.Lys523Met) c.1565A>T (p.Lys522Met) c.*689A>T (n.*689A>T) c.*1224A>T (n.*1224A>T) c.1777A>T (n.1777A>T) c.1397A>T (p.Lys466Met) c.1445A>T (p.Lys482Met) c.1541A>T (p.Lys514Met) c.1487A>T (p.Lys496Met) c.1448A>T (p.Lys483Met) | |
18 | g.33738970G>A | CA503768618 | ASXL3 | c.1569G>A (p.Lys523=) c.1566G>A (p.Lys522=) c.*690G>A (n.*690G>A) c.*1225G>A (n.*1225G>A) c.1778G>A (n.1778G>A) c.1398G>A (p.Lys466=) c.1446G>A (p.Lys482=) c.1542G>A (p.Lys514=) c.1488G>A (p.Lys496=) c.1449G>A (p.Lys483=) | gnomAD v4 |
18 | g.33738970G>C | CA402175862 | ASXL3 | c.1569G>C (p.Lys523Asn) c.1566G>C (p.Lys522Asn) c.*690G>C (n.*690G>C) c.*1225G>C (n.*1225G>C) c.1778G>C (n.1778G>C) c.1398G>C (p.Lys466Asn) c.1446G>C (p.Lys482Asn) c.1542G>C (p.Lys514Asn) c.1488G>C (p.Lys496Asn) c.1449G>C (p.Lys483Asn) | |
18 | g.33738970G= | CA2294855760 | ASXL3 | c.1569G= (p.Lys523=) c.1566G= (p.Lys522=) c.*690G= (n.*690G=) c.*1225G= (n.*1225G=) c.1778G= (n.1778G=) c.1398G= (p.Lys466=) c.1446G= (p.Lys482=) c.1542G= (p.Lys514=) c.1488G= (p.Lys496=) c.1449G= (p.Lys483=) | |
18 | g.33738970G>T | CA402175861 | ASXL3 | c.1569G>T (p.Lys523Asn) c.1566G>T (p.Lys522Asn) c.*690G>T (n.*690G>T) c.*1225G>T (n.*1225G>T) c.1778G>T (n.1778G>T) c.1398G>T (p.Lys466Asn) c.1446G>T (p.Lys482Asn) c.1542G>T (p.Lys514Asn) c.1488G>T (p.Lys496Asn) c.1449G>T (p.Lys483Asn) | dbSNP |
18 | g.33738971T>A | CA402175863 | ASXL3 | c.1570T>A (p.Ser524Thr) c.1567T>A (p.Ser523Thr) c.*691T>A (n.*691T>A) c.*1226T>A (n.*1226T>A) c.1779T>A (n.1779T>A) c.1399T>A (p.Ser467Thr) c.1447T>A (p.Ser483Thr) c.1543T>A (p.Ser515Thr) c.1489T>A (p.Ser497Thr) c.1450T>A (p.Ser484Thr) | |
18 | g.33738971T>C | CA402175864 | ASXL3 | c.1570T>C (p.Ser524Pro) c.1567T>C (p.Ser523Pro) c.*691T>C (n.*691T>C) c.*1226T>C (n.*1226T>C) c.1779T>C (n.1779T>C) c.1399T>C (p.Ser467Pro) c.1447T>C (p.Ser483Pro) c.1543T>C (p.Ser515Pro) c.1489T>C (p.Ser497Pro) c.1450T>C (p.Ser484Pro) | |
18 | g.33738971T>G | CA402175865 | ASXL3 | c.1570T>G (p.Ser524Ala) c.1567T>G (p.Ser523Ala) c.*691T>G (n.*691T>G) c.*1226T>G (n.*1226T>G) c.1779T>G (n.1779T>G) c.1399T>G (p.Ser467Ala) c.1447T>G (p.Ser483Ala) c.1543T>G (p.Ser515Ala) c.1489T>G (p.Ser497Ala) c.1450T>G (p.Ser484Ala) | |
18 | g.33738972C>A | CA402175866 | ASXL3 | c.1571C>A (p.Ser524Ter) c.1568C>A (p.Ser523Ter) c.*692C>A (n.*692C>A) c.*1227C>A (n.*1227C>A) c.1780C>A (n.1780C>A) c.1400C>A (p.Ser467Ter) c.1448C>A (p.Ser483Ter) c.1544C>A (p.Ser515Ter) c.1490C>A (p.Ser497Ter) c.1451C>A (p.Ser484Ter) | |
18 | g.33738972C= | CA2294855761 | ASXL3 | c.1571C= (p.Ser524=) c.1568C= (p.Ser523=) c.*692C= (n.*692C=) c.*1227C= (n.*1227C=) c.1780C= (n.1780C=) c.1400C= (p.Ser467=) c.1448C= (p.Ser483=) c.1544C= (p.Ser515=) c.1490C= (p.Ser497=) c.1451C= (p.Ser484=) | |
18 | g.33738972C>G | CA402175867 | ASXL3 | c.1571C>G (p.Ser524Ter) c.1568C>G (p.Ser523Ter) c.*692C>G (n.*692C>G) c.*1227C>G (n.*1227C>G) c.1780C>G (n.1780C>G) c.1400C>G (p.Ser467Ter) c.1448C>G (p.Ser483Ter) c.1544C>G (p.Ser515Ter) c.1490C>G (p.Ser497Ter) c.1451C>G (p.Ser484Ter) | |
18 | g.33738972C>T | CA402175868 | ASXL3 | c.1571C>T (p.Ser524Leu) c.1568C>T (p.Ser523Leu) c.*692C>T (n.*692C>T) c.*1227C>T (n.*1227C>T) c.1780C>T (n.1780C>T) c.1400C>T (p.Ser467Leu) c.1448C>T (p.Ser483Leu) c.1544C>T (p.Ser515Leu) c.1490C>T (p.Ser497Leu) c.1451C>T (p.Ser484Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.33738973A>C | CA503768619 | ASXL3 | c.1572A>C (p.Ser524=) c.1569A>C (p.Ser523=) c.*693A>C (n.*693A>C) c.*1228A>C (n.*1228A>C) c.1781A>C (n.1781A>C) c.1401A>C (p.Ser467=) c.1449A>C (p.Ser483=) c.1545A>C (p.Ser515=) c.1491A>C (p.Ser497=) c.1452A>C (p.Ser484=) | |
18 | g.33738973A>G | CA503768620 | ASXL3 | c.1572A>G (p.Ser524=) c.1569A>G (p.Ser523=) c.*693A>G (n.*693A>G) c.*1228A>G (n.*1228A>G) c.1781A>G (n.1781A>G) c.1401A>G (p.Ser467=) c.1449A>G (p.Ser483=) c.1545A>G (p.Ser515=) c.1491A>G (p.Ser497=) c.1452A>G (p.Ser484=) | COSMIC COSMIC |
18 | g.33738973A>T | CA503768621 | ASXL3 | c.1572A>T (p.Ser524=) c.1569A>T (p.Ser523=) c.*693A>T (n.*693A>T) c.*1228A>T (n.*1228A>T) c.1781A>T (n.1781A>T) c.1401A>T (p.Ser467=) c.1449A>T (p.Ser483=) c.1545A>T (p.Ser515=) c.1491A>T (p.Ser497=) c.1452A>T (p.Ser484=) | |
18 | g.33738974G>A | CA402175870 | ASXL3 | c.1573G>A (p.Glu525Lys) c.1570G>A (p.Glu524Lys) c.*694G>A (n.*694G>A) c.*1229G>A (n.*1229G>A) c.1782G>A (n.1782G>A) c.1402G>A (p.Glu468Lys) c.1450G>A (p.Glu484Lys) c.1546G>A (p.Glu516Lys) c.1492G>A (p.Glu498Lys) c.1453G>A (p.Glu485Lys) | COSMIC COSMIC |
18 | g.33738974G>C | CA8933771 | ASXL3 | c.1573G>C (p.Glu525Gln) c.1570G>C (p.Glu524Gln) c.*694G>C (n.*694G>C) c.*1229G>C (n.*1229G>C) c.1782G>C (n.1782G>C) c.1402G>C (p.Glu468Gln) c.1450G>C (p.Glu484Gln) c.1546G>C (p.Glu516Gln) c.1492G>C (p.Glu498Gln) c.1453G>C (p.Glu485Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738974G= | CA2294855762 | ASXL3 | c.1573G= (p.Glu525=) c.1570G= (p.Glu524=) c.*694G= (n.*694G=) c.*1229G= (n.*1229G=) c.1782G= (n.1782G=) c.1402G= (p.Glu468=) c.1450G= (p.Glu484=) c.1546G= (p.Glu516=) c.1492G= (p.Glu498=) c.1453G= (p.Glu485=) | |
18 | g.33738974G>T | CA402175869 | ASXL3 | c.1573G>T (p.Glu525Ter) c.1570G>T (p.Glu524Ter) c.*694G>T (n.*694G>T) c.*1229G>T (n.*1229G>T) c.1782G>T (n.1782G>T) c.1402G>T (p.Glu468Ter) c.1450G>T (p.Glu484Ter) c.1546G>T (p.Glu516Ter) c.1492G>T (p.Glu498Ter) c.1453G>T (p.Glu485Ter) | |
18 | g.33738975A>C | CA402175871 | ASXL3 | c.1574A>C (p.Glu525Ala) c.1571A>C (p.Glu524Ala) c.*695A>C (n.*695A>C) c.*1230A>C (n.*1230A>C) c.1783A>C (n.1783A>C) c.1403A>C (p.Glu468Ala) c.1451A>C (p.Glu484Ala) c.1547A>C (p.Glu516Ala) c.1493A>C (p.Glu498Ala) c.1454A>C (p.Glu485Ala) | gnomAD v4 |
18 | g.33738975A>G | CA402175872 | ASXL3 | c.1574A>G (p.Glu525Gly) c.1571A>G (p.Glu524Gly) c.*695A>G (n.*695A>G) c.*1230A>G (n.*1230A>G) c.1783A>G (n.1783A>G) c.1403A>G (p.Glu468Gly) c.1451A>G (p.Glu484Gly) c.1547A>G (p.Glu516Gly) c.1493A>G (p.Glu498Gly) c.1454A>G (p.Glu485Gly) | |
18 | g.33738975A>T | CA402175873 | ASXL3 | c.1574A>T (p.Glu525Val) c.1571A>T (p.Glu524Val) c.*695A>T (n.*695A>T) c.*1230A>T (n.*1230A>T) c.1783A>T (n.1783A>T) c.1403A>T (p.Glu468Val) c.1451A>T (p.Glu484Val) c.1547A>T (p.Glu516Val) c.1493A>T (p.Glu498Val) c.1454A>T (p.Glu485Val) | |
18 | g.33738976A>C | CA402175874 | ASXL3 | c.1575A>C (p.Glu525Asp) c.1572A>C (p.Glu524Asp) c.*696A>C (n.*696A>C) c.*1231A>C (n.*1231A>C) c.1784A>C (n.1784A>C) c.1404A>C (p.Glu468Asp) c.1452A>C (p.Glu484Asp) c.1548A>C (p.Glu516Asp) c.1494A>C (p.Glu498Asp) c.1455A>C (p.Glu485Asp) | |
18 | g.33738976A>G | CA503768624 | ASXL3 | c.1575A>G (p.Glu525=) c.1572A>G (p.Glu524=) c.*696A>G (n.*696A>G) c.*1231A>G (n.*1231A>G) c.1784A>G (n.1784A>G) c.1404A>G (p.Glu468=) c.1452A>G (p.Glu484=) c.1548A>G (p.Glu516=) c.1494A>G (p.Glu498=) c.1455A>G (p.Glu485=) | |
18 | g.33738976A>T | CA402175875 | ASXL3 | c.1575A>T (p.Glu525Asp) c.1572A>T (p.Glu524Asp) c.*696A>T (n.*696A>T) c.*1231A>T (n.*1231A>T) c.1784A>T (n.1784A>T) c.1404A>T (p.Glu468Asp) c.1452A>T (p.Glu484Asp) c.1548A>T (p.Glu516Asp) c.1494A>T (p.Glu498Asp) c.1455A>T (p.Glu485Asp) | |
18 | g.33738977T>A | CA402175878 | ASXL3 | c.1576T>A (p.Ser526Thr) c.1573T>A (p.Ser525Thr) c.*697T>A (n.*697T>A) c.*1232T>A (n.*1232T>A) c.1785T>A (n.1785T>A) c.1405T>A (p.Ser469Thr) c.1453T>A (p.Ser485Thr) c.1549T>A (p.Ser517Thr) c.1495T>A (p.Ser499Thr) c.1456T>A (p.Ser486Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738977T>C | CA402175877 | ASXL3 | c.1576T>C (p.Ser526Pro) c.1573T>C (p.Ser525Pro) c.*697T>C (n.*697T>C) c.*1232T>C (n.*1232T>C) c.1785T>C (n.1785T>C) c.1405T>C (p.Ser469Pro) c.1453T>C (p.Ser485Pro) c.1549T>C (p.Ser517Pro) c.1495T>C (p.Ser499Pro) c.1456T>C (p.Ser486Pro) | |
18 | g.33738977T>G | CA402175876 | ASXL3 | c.1576T>G (p.Ser526Ala) c.1573T>G (p.Ser525Ala) c.*697T>G (n.*697T>G) c.*1232T>G (n.*1232T>G) c.1785T>G (n.1785T>G) c.1405T>G (p.Ser469Ala) c.1453T>G (p.Ser485Ala) c.1549T>G (p.Ser517Ala) c.1495T>G (p.Ser499Ala) c.1456T>G (p.Ser486Ala) | |
18 | g.33738977T= | CA2294855763 | ASXL3 | c.1576T= (p.Ser526=) c.1573T= (p.Ser525=) c.*697T= (n.*697T=) c.*1232T= (n.*1232T=) c.1785T= (n.1785T=) c.1405T= (p.Ser469=) c.1453T= (p.Ser485=) c.1549T= (p.Ser517=) c.1495T= (p.Ser499=) c.1456T= (p.Ser486=) | |
18 | g.33738978C>A | CA402175879 | ASXL3 | c.1577C>A (p.Ser526Ter) c.1574C>A (p.Ser525Ter) c.*698C>A (n.*698C>A) c.*1233C>A (n.*1233C>A) c.1786C>A (n.1786C>A) c.1406C>A (p.Ser469Ter) c.1454C>A (p.Ser485Ter) c.1550C>A (p.Ser517Ter) c.1496C>A (p.Ser499Ter) c.1457C>A (p.Ser486Ter) | |
18 | g.33738978C>G | CA402175880 | ASXL3 | c.1577C>G (p.Ser526Ter) c.1574C>G (p.Ser525Ter) c.*698C>G (n.*698C>G) c.*1233C>G (n.*1233C>G) c.1786C>G (n.1786C>G) c.1406C>G (p.Ser469Ter) c.1454C>G (p.Ser485Ter) c.1550C>G (p.Ser517Ter) c.1496C>G (p.Ser499Ter) c.1457C>G (p.Ser486Ter) | |
18 | g.33738978C>T | CA402175881 | ASXL3 | c.1577C>T (p.Ser526Leu) c.1574C>T (p.Ser525Leu) c.*698C>T (n.*698C>T) c.*1233C>T (n.*1233C>T) c.1786C>T (n.1786C>T) c.1406C>T (p.Ser469Leu) c.1454C>T (p.Ser485Leu) c.1550C>T (p.Ser517Leu) c.1496C>T (p.Ser499Leu) c.1457C>T (p.Ser486Leu) | COSMIC COSMIC |
18 | g.33738979A>C | CA503768634 | ASXL3 | c.1578A>C (p.Ser526=) c.1575A>C (p.Ser525=) c.*699A>C (n.*699A>C) c.*1234A>C (n.*1234A>C) c.1787A>C (n.1787A>C) c.1407A>C (p.Ser469=) c.1455A>C (p.Ser485=) c.1551A>C (p.Ser517=) c.1497A>C (p.Ser499=) c.1458A>C (p.Ser486=) | |
18 | g.33738979A>G | CA503768635 | ASXL3 | c.1578A>G (p.Ser526=) c.1575A>G (p.Ser525=) c.*699A>G (n.*699A>G) c.*1234A>G (n.*1234A>G) c.1787A>G (n.1787A>G) c.1407A>G (p.Ser469=) c.1455A>G (p.Ser485=) c.1551A>G (p.Ser517=) c.1497A>G (p.Ser499=) c.1458A>G (p.Ser486=) | |
18 | g.33738979A>T | CA503768636 | ASXL3 | c.1578A>T (p.Ser526=) c.1575A>T (p.Ser525=) c.*699A>T (n.*699A>T) c.*1234A>T (n.*1234A>T) c.1787A>T (n.1787A>T) c.1407A>T (p.Ser469=) c.1455A>T (p.Ser485=) c.1551A>T (p.Ser517=) c.1497A>T (p.Ser499=) c.1458A>T (p.Ser486=) | |
18 | g.33738979_33738980delinsAC | CA2294855764 | ASXL3 | c.1578_1579delinsAC (p.Ser526=) c.1575_1576delinsAC (p.Ser525=) c.*699_*700delinsAC (n.*699_*700delinsAC) c.*1234_*1235delinsAC (n.*1234_*1235delinsAC) c.1787_1788delinsAC (n.1787_1788delinsAC) c.1407_1408delinsAC (p.Ser469=) c.1455_1456delinsAC (p.Ser485=) c.1551_1552delinsAC (p.Ser517=) c.1497_1498delinsAC (p.Ser499=) c.1458_1459delinsAC (p.Ser486=) | |
18 | g.33738980C>A | CA8933772 | ASXL3 | c.1579C>A (p.Pro527Thr) c.1576C>A (p.Pro526Thr) c.*700C>A (n.*700C>A) c.*1235C>A (n.*1235C>A) c.1788C>A (n.1788C>A) c.1408C>A (p.Pro470Thr) c.1456C>A (p.Pro486Thr) c.1552C>A (p.Pro518Thr) c.1498C>A (p.Pro500Thr) c.1459C>A (p.Pro487Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33738980C= | CA2294855765 | ASXL3 | c.1579C= (p.Pro527=) c.1576C= (p.Pro526=) c.*700C= (n.*700C=) c.*1235C= (n.*1235C=) c.1788C= (n.1788C=) c.1408C= (p.Pro470=) c.1456C= (p.Pro486=) c.1552C= (p.Pro518=) c.1498C= (p.Pro500=) c.1459C= (p.Pro487=) | |
18 | g.33738980C>G | CA402175882 | ASXL3 | c.1579C>G (p.Pro527Ala) c.1576C>G (p.Pro526Ala) c.*700C>G (n.*700C>G) c.*1235C>G (n.*1235C>G) c.1788C>G (n.1788C>G) c.1408C>G (p.Pro470Ala) c.1456C>G (p.Pro486Ala) c.1552C>G (p.Pro518Ala) c.1498C>G (p.Pro500Ala) c.1459C>G (p.Pro487Ala) | |
18 | g.33738980C>T | CA402175883 | ASXL3 | c.1579C>T (p.Pro527Ser) c.1576C>T (p.Pro526Ser) c.*700C>T (n.*700C>T) c.*1235C>T (n.*1235C>T) c.1788C>T (n.1788C>T) c.1408C>T (p.Pro470Ser) c.1456C>T (p.Pro486Ser) c.1552C>T (p.Pro518Ser) c.1498C>T (p.Pro500Ser) c.1459C>T (p.Pro487Ser) | |
18 | g.33738983dup | CA1139666020 | ASXL3 | c.1582dup (p.Gln528ProfsTer15) c.1579dup (p.Gln527ProfsTer15) c.*703dup (n.*703dup) c.*1238dup (n.*1238dup) c.1791dup (n.1791dup) c.1411dup (p.Gln471ProfsTer15) c.1459dup (p.Gln487ProfsTer15) c.1555dup (p.Gln519ProfsTer15) c.1501dup (p.Gln501ProfsTer15) c.1462dup (p.Gln488ProfsTer15) | ClinVar dbSNP |
18 | g.33738983del | CA915951349 | ASXL3 | c.1582del (p.Gln528ArgfsTer4) c.1579del (p.Gln527ArgfsTer4) c.*703del (n.*703del) c.*1238del (n.*1238del) c.1791del (n.1791del) c.1411del (p.Gln471ArgfsTer4) c.1459del (p.Gln487ArgfsTer4) c.1555del (p.Gln519ArgfsTer4) c.1501del (p.Gln501ArgfsTer4) c.1462del (p.Gln488ArgfsTer4) | ClinVar dbSNP |
18 | g.33738981C>A | CA402175884 | ASXL3 | c.1580C>A (p.Pro527His) c.1577C>A (p.Pro526His) c.*701C>A (n.*701C>A) c.*1236C>A (n.*1236C>A) c.1789C>A (n.1789C>A) c.1409C>A (p.Pro470His) c.1457C>A (p.Pro486His) c.1553C>A (p.Pro518His) c.1499C>A (p.Pro500His) c.1460C>A (p.Pro487His) | |
18 | g.33738981C= | CA2294855766 | ASXL3 | c.1580C= (p.Pro527=) c.1577C= (p.Pro526=) c.*701C= (n.*701C=) c.*1236C= (n.*1236C=) c.1789C= (n.1789C=) c.1409C= (p.Pro470=) c.1457C= (p.Pro486=) c.1553C= (p.Pro518=) c.1499C= (p.Pro500=) c.1460C= (p.Pro487=) | |
18 | g.33738981C>G | CA402175885 | ASXL3 | c.1580C>G (p.Pro527Arg) c.1577C>G (p.Pro526Arg) c.*701C>G (n.*701C>G) c.*1236C>G (n.*1236C>G) c.1789C>G (n.1789C>G) c.1409C>G (p.Pro470Arg) c.1457C>G (p.Pro486Arg) c.1553C>G (p.Pro518Arg) c.1499C>G (p.Pro500Arg) c.1460C>G (p.Pro487Arg) | |
18 | g.33738981C>T | CA8933773 | ASXL3 | c.1580C>T (p.Pro527Leu) c.1577C>T (p.Pro526Leu) c.*701C>T (n.*701C>T) c.*1236C>T (n.*1236C>T) c.1789C>T (n.1789C>T) c.1409C>T (p.Pro470Leu) c.1457C>T (p.Pro486Leu) c.1553C>T (p.Pro518Leu) c.1499C>T (p.Pro500Leu) c.1460C>T (p.Pro487Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738982C>A | CA503768640 | ASXL3 | c.1581C>A (p.Pro527=) c.1578C>A (p.Pro526=) c.*702C>A (n.*702C>A) c.*1237C>A (n.*1237C>A) c.1790C>A (n.1790C>A) c.1410C>A (p.Pro470=) c.1458C>A (p.Pro486=) c.1554C>A (p.Pro518=) c.1500C>A (p.Pro500=) c.1461C>A (p.Pro487=) | |
18 | g.33738982C= | CA2294855767 | ASXL3 | c.1581C= (p.Pro527=) c.1578C= (p.Pro526=) c.*702C= (n.*702C=) c.*1237C= (n.*1237C=) c.1790C= (n.1790C=) c.1410C= (p.Pro470=) c.1458C= (p.Pro486=) c.1554C= (p.Pro518=) c.1500C= (p.Pro500=) c.1461C= (p.Pro487=) | |
18 | g.33738982C>G | CA503768641 | ASXL3 | c.1581C>G (p.Pro527=) c.1578C>G (p.Pro526=) c.*702C>G (n.*702C>G) c.*1237C>G (n.*1237C>G) c.1790C>G (n.1790C>G) c.1410C>G (p.Pro470=) c.1458C>G (p.Pro486=) c.1554C>G (p.Pro518=) c.1500C>G (p.Pro500=) c.1461C>G (p.Pro487=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33738982C>T | CA503768643 | ASXL3 | c.1581C>T (p.Pro527=) c.1578C>T (p.Pro526=) c.*702C>T (n.*702C>T) c.*1237C>T (n.*1237C>T) c.1790C>T (n.1790C>T) c.1410C>T (p.Pro470=) c.1458C>T (p.Pro486=) c.1554C>T (p.Pro518=) c.1500C>T (p.Pro500=) c.1461C>T (p.Pro487=) | |
18 | g.33738983C>A | CA402175886 | ASXL3 | c.1582C>A (p.Gln528Lys) c.1579C>A (p.Gln527Lys) c.*703C>A (n.*703C>A) c.*1238C>A (n.*1238C>A) c.1791C>A (n.1791C>A) c.1411C>A (p.Gln471Lys) c.1459C>A (p.Gln487Lys) c.1555C>A (p.Gln519Lys) c.1501C>A (p.Gln501Lys) c.1462C>A (p.Gln488Lys) | |
18 | g.33738983C>G | CA402175887 | ASXL3 | c.1582C>G (p.Gln528Glu) c.1579C>G (p.Gln527Glu) c.*703C>G (n.*703C>G) c.*1238C>G (n.*1238C>G) c.1791C>G (n.1791C>G) c.1411C>G (p.Gln471Glu) c.1459C>G (p.Gln487Glu) c.1555C>G (p.Gln519Glu) c.1501C>G (p.Gln501Glu) c.1462C>G (p.Gln488Glu) | |
18 | g.33738983C>T | CA402175888 | ASXL3 | c.1582C>T (p.Gln528Ter) c.1579C>T (p.Gln527Ter) c.*703C>T (n.*703C>T) c.*1238C>T (n.*1238C>T) c.1791C>T (n.1791C>T) c.1411C>T (p.Gln471Ter) c.1459C>T (p.Gln487Ter) c.1555C>T (p.Gln519Ter) c.1501C>T (p.Gln501Ter) c.1462C>T (p.Gln488Ter) | ClinVar |
18 | g.33738984A= | CA2294855768 | ASXL3 | c.1583A= (p.Gln528=) c.1580A= (p.Gln527=) c.*704A= (n.*704A=) c.*1239A= (n.*1239A=) c.1792A= (n.1792A=) c.1412A= (p.Gln471=) c.1460A= (p.Gln487=) c.1556A= (p.Gln519=) c.1502A= (p.Gln501=) c.1463A= (p.Gln488=) | |
18 | g.33738984A>C | CA402175889 | ASXL3 | c.1583A>C (p.Gln528Pro) c.1580A>C (p.Gln527Pro) c.*704A>C (n.*704A>C) c.*1239A>C (n.*1239A>C) c.1792A>C (n.1792A>C) c.1412A>C (p.Gln471Pro) c.1460A>C (p.Gln487Pro) c.1556A>C (p.Gln519Pro) c.1502A>C (p.Gln501Pro) c.1463A>C (p.Gln488Pro) | |
18 | g.33738984A>G | CA402175890 | ASXL3 | c.1583A>G (p.Gln528Arg) c.1580A>G (p.Gln527Arg) c.*704A>G (n.*704A>G) c.*1239A>G (n.*1239A>G) c.1792A>G (n.1792A>G) c.1412A>G (p.Gln471Arg) c.1460A>G (p.Gln487Arg) c.1556A>G (p.Gln519Arg) c.1502A>G (p.Gln501Arg) c.1463A>G (p.Gln488Arg) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33738984A>T | CA402175891 | ASXL3 | c.1583A>T (p.Gln528Leu) c.1580A>T (p.Gln527Leu) c.*704A>T (n.*704A>T) c.*1239A>T (n.*1239A>T) c.1792A>T (n.1792A>T) c.1412A>T (p.Gln471Leu) c.1460A>T (p.Gln487Leu) c.1556A>T (p.Gln519Leu) c.1502A>T (p.Gln501Leu) c.1463A>T (p.Gln488Leu) | gnomAD v4 |
18 | g.33738984_33738985delinsAG | CA2294855769 | ASXL3 | c.1583_1584delinsAG (p.Gln528=) c.1580_1581delinsAG (p.Gln527=) c.*704_*705delinsAG (n.*704_*705delinsAG) c.*1239_*1240delinsAG (n.*1239_*1240delinsAG) c.1792_1793delinsAG (n.1792_1793delinsAG) c.1412_1413delinsAG (p.Gln471=) c.1460_1461delinsAG (p.Gln487=) c.1556_1557delinsAG (p.Gln519=) c.1502_1503delinsAG (p.Gln501=) c.1463_1464delinsAG (p.Gln488=) | |
18 | g.33738985G>A | CA8933774 | ASXL3 | c.1584G>A (p.Gln528=) c.1581G>A (p.Gln527=) c.*705G>A (n.*705G>A) c.*1240G>A (n.*1240G>A) c.1793G>A (n.1793G>A) c.1413G>A (p.Gln471=) c.1461G>A (p.Gln487=) c.1557G>A (p.Gln519=) c.1503G>A (p.Gln501=) c.1464G>A (p.Gln488=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33738985G>C | CA402175892 | ASXL3 | c.1584G>C (p.Gln528His) c.1581G>C (p.Gln527His) c.*705G>C (n.*705G>C) c.*1240G>C (n.*1240G>C) c.1793G>C (n.1793G>C) c.1413G>C (p.Gln471His) c.1461G>C (p.Gln487His) c.1557G>C (p.Gln519His) c.1503G>C (p.Gln501His) c.1464G>C (p.Gln488His) | |
18 | g.33738985G= | CA2294855770 | ASXL3 | c.1584G= (p.Gln528=) c.1581G= (p.Gln527=) c.*705G= (n.*705G=) c.*1240G= (n.*1240G=) c.1793G= (n.1793G=) c.1413G= (p.Gln471=) c.1461G= (p.Gln487=) c.1557G= (p.Gln519=) c.1503G= (p.Gln501=) c.1464G= (p.Gln488=) | |
18 | g.33738985G>T | CA402175893 | ASXL3 | c.1584G>T (p.Gln528His) c.1581G>T (p.Gln527His) c.*705G>T (n.*705G>T) c.*1240G>T (n.*1240G>T) c.1793G>T (n.1793G>T) c.1413G>T (p.Gln471His) c.1461G>T (p.Gln487His) c.1557G>T (p.Gln519His) c.1503G>T (p.Gln501His) c.1464G>T (p.Gln488His) | |
18 | g.33738986del | CA1139666021 | ASXL3 | c.1585del (p.Glu529LysfsTer3) c.1582del (p.Glu528LysfsTer3) c.*706del (n.*706del) c.*1241del (n.*1241del) c.1794del (n.1794del) c.1414del (p.Glu472LysfsTer3) c.1462del (p.Glu488LysfsTer3) c.1558del (p.Glu520LysfsTer3) c.1504del (p.Glu502LysfsTer3) c.1465del (p.Glu489LysfsTer3) | ClinVar dbSNP |
18 | g.33738986G>A | CA402175894 | ASXL3 | c.1585G>A (p.Glu529Lys) c.1582G>A (p.Glu528Lys) c.*706G>A (n.*706G>A) c.*1241G>A (n.*1241G>A) c.1794G>A (n.1794G>A) c.1414G>A (p.Glu472Lys) c.1462G>A (p.Glu488Lys) c.1558G>A (p.Glu520Lys) c.1504G>A (p.Glu502Lys) c.1465G>A (p.Glu489Lys) | |
18 | g.33738986G>C | CA402175895 | ASXL3 | c.1585G>C (p.Glu529Gln) c.1582G>C (p.Glu528Gln) c.*706G>C (n.*706G>C) c.*1241G>C (n.*1241G>C) c.1794G>C (n.1794G>C) c.1414G>C (p.Glu472Gln) c.1462G>C (p.Glu488Gln) c.1558G>C (p.Glu520Gln) c.1504G>C (p.Glu502Gln) c.1465G>C (p.Glu489Gln) | |
18 | g.33738986G= | CA2294855771 | ASXL3 | c.1585G= (p.Glu529=) c.1582G= (p.Glu528=) c.*706G= (n.*706G=) c.*1241G= (n.*1241G=) c.1794G= (n.1794G=) c.1414G= (p.Glu472=) c.1462G= (p.Glu488=) c.1558G= (p.Glu520=) c.1504G= (p.Glu502=) c.1465G= (p.Glu489=) | |
18 | g.33738986G>T | CA402175896 | ASXL3 | c.1585G>T (p.Glu529Ter) c.1582G>T (p.Glu528Ter) c.*706G>T (n.*706G>T) c.*1241G>T (n.*1241G>T) c.1794G>T (n.1794G>T) c.1414G>T (p.Glu472Ter) c.1462G>T (p.Glu488Ter) c.1558G>T (p.Glu520Ter) c.1504G>T (p.Glu502Ter) c.1465G>T (p.Glu489Ter) | ClinVar dbSNP |
18 | g.33738987A= | CA2294855772 | ASXL3 | c.1586A= (p.Glu529=) c.1583A= (p.Glu528=) c.*707A= (n.*707A=) c.*1242A= (n.*1242A=) c.1795A= (n.1795A=) c.1415A= (p.Glu472=) c.1463A= (p.Glu488=) c.1559A= (p.Glu520=) c.1505A= (p.Glu502=) c.1466A= (p.Glu489=) | |
18 | g.33738987A>C | CA402175898 | ASXL3 | c.1586A>C (p.Glu529Ala) c.1583A>C (p.Glu528Ala) c.*707A>C (n.*707A>C) c.*1242A>C (n.*1242A>C) c.1795A>C (n.1795A>C) c.1415A>C (p.Glu472Ala) c.1463A>C (p.Glu488Ala) c.1559A>C (p.Glu520Ala) c.1505A>C (p.Glu502Ala) c.1466A>C (p.Glu489Ala) | |
18 | g.33738987A>G | CA402175899 | ASXL3 | c.1586A>G (p.Glu529Gly) c.1583A>G (p.Glu528Gly) c.*707A>G (n.*707A>G) c.*1242A>G (n.*1242A>G) c.1795A>G (n.1795A>G) c.1415A>G (p.Glu472Gly) c.1463A>G (p.Glu488Gly) c.1559A>G (p.Glu520Gly) c.1505A>G (p.Glu502Gly) c.1466A>G (p.Glu489Gly) | dbSNP |
18 | g.33738987A>T | CA402175897 | ASXL3 | c.1586A>T (p.Glu529Val) c.1583A>T (p.Glu528Val) c.*707A>T (n.*707A>T) c.*1242A>T (n.*1242A>T) c.1795A>T (n.1795A>T) c.1415A>T (p.Glu472Val) c.1463A>T (p.Glu488Val) c.1559A>T (p.Glu520Val) c.1505A>T (p.Glu502Val) c.1466A>T (p.Glu489Val) |