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.33738840_33738842del | CA2641456703 | ASXL3 | c.1439_1441del (p.Glu480del) c.1436_1438del (p.Glu479del) c.*560_*562del (n.*560_*562del) c.*1095_*1097del (n.*1095_*1097del) c.1648_1650del (n.1648_1650del) c.1268_1270del (p.Glu423del) c.1316_1318del (p.Glu439del) c.1412_1414del (p.Glu471del) c.1358_1360del (p.Glu453del) c.1319_1321del (p.Glu440del) | gnomAD v4 |
18 | g.33738838G>A | CA503768312 | ASXL3 | c.1437G>A (p.Glu479=) c.1434G>A (p.Glu478=) c.*558G>A (n.*558G>A) c.*1093G>A (n.*1093G>A) c.1646G>A (n.1646G>A) c.1266G>A (p.Glu422=) c.1314G>A (p.Glu438=) c.1410G>A (p.Glu470=) c.1356G>A (p.Glu452=) c.1317G>A (p.Glu439=) | |
18 | g.33738838G>C | CA402175311 | ASXL3 | c.1437G>C (p.Glu479Asp) c.1434G>C (p.Glu478Asp) c.*558G>C (n.*558G>C) c.*1093G>C (n.*1093G>C) c.1646G>C (n.1646G>C) c.1266G>C (p.Glu422Asp) c.1314G>C (p.Glu438Asp) c.1410G>C (p.Glu470Asp) c.1356G>C (p.Glu452Asp) c.1317G>C (p.Glu439Asp) | |
18 | g.33738838G>T | CA402175310 | ASXL3 | c.1437G>T (p.Glu479Asp) c.1434G>T (p.Glu478Asp) c.*558G>T (n.*558G>T) c.*1093G>T (n.*1093G>T) c.1646G>T (n.1646G>T) c.1266G>T (p.Glu422Asp) c.1314G>T (p.Glu438Asp) c.1410G>T (p.Glu470Asp) c.1356G>T (p.Glu452Asp) c.1317G>T (p.Glu439Asp) | |
18 | g.33738839G>A | CA402175312 | ASXL3 | c.1438G>A (p.Glu480Lys) c.1435G>A (p.Glu479Lys) c.*559G>A (n.*559G>A) c.*1094G>A (n.*1094G>A) c.1647G>A (n.1647G>A) c.1267G>A (p.Glu423Lys) c.1315G>A (p.Glu439Lys) c.1411G>A (p.Glu471Lys) c.1357G>A (p.Glu453Lys) c.1318G>A (p.Glu440Lys) | |
18 | g.33738839G>C | CA402175313 | ASXL3 | c.1438G>C (p.Glu480Gln) c.1435G>C (p.Glu479Gln) c.*559G>C (n.*559G>C) c.*1094G>C (n.*1094G>C) c.1647G>C (n.1647G>C) c.1267G>C (p.Glu423Gln) c.1315G>C (p.Glu439Gln) c.1411G>C (p.Glu471Gln) c.1357G>C (p.Glu453Gln) c.1318G>C (p.Glu440Gln) | |
18 | g.33738839G>T | CA402175314 | ASXL3 | c.1438G>T (p.Glu480Ter) c.1435G>T (p.Glu479Ter) c.*559G>T (n.*559G>T) c.*1094G>T (n.*1094G>T) c.1647G>T (n.1647G>T) c.1267G>T (p.Glu423Ter) c.1315G>T (p.Glu439Ter) c.1411G>T (p.Glu471Ter) c.1357G>T (p.Glu453Ter) c.1318G>T (p.Glu440Ter) | |
18 | g.33738840A>C | CA402175315 | ASXL3 | c.1439A>C (p.Glu480Ala) c.1436A>C (p.Glu479Ala) c.*560A>C (n.*560A>C) c.*1095A>C (n.*1095A>C) c.1648A>C (n.1648A>C) c.1268A>C (p.Glu423Ala) c.1316A>C (p.Glu439Ala) c.1412A>C (p.Glu471Ala) c.1358A>C (p.Glu453Ala) c.1319A>C (p.Glu440Ala) | gnomAD v4 |
18 | g.33738840A>G | CA402175316 | ASXL3 | c.1439A>G (p.Glu480Gly) c.1436A>G (p.Glu479Gly) c.*560A>G (n.*560A>G) c.*1095A>G (n.*1095A>G) c.1648A>G (n.1648A>G) c.1268A>G (p.Glu423Gly) c.1316A>G (p.Glu439Gly) c.1412A>G (p.Glu471Gly) c.1358A>G (p.Glu453Gly) c.1319A>G (p.Glu440Gly) | |
18 | g.33738840A>T | CA402175317 | ASXL3 | c.1439A>T (p.Glu480Val) c.1436A>T (p.Glu479Val) c.*560A>T (n.*560A>T) c.*1095A>T (n.*1095A>T) c.1648A>T (n.1648A>T) c.1268A>T (p.Glu423Val) c.1316A>T (p.Glu439Val) c.1412A>T (p.Glu471Val) c.1358A>T (p.Glu453Val) c.1319A>T (p.Glu440Val) | |
18 | g.33738841G>A | CA503768317 | ASXL3 | c.1440G>A (p.Glu480=) c.1437G>A (p.Glu479=) c.*561G>A (n.*561G>A) c.*1096G>A (n.*1096G>A) c.1649G>A (n.1649G>A) c.1269G>A (p.Glu423=) c.1317G>A (p.Glu439=) c.1413G>A (p.Glu471=) c.1359G>A (p.Glu453=) c.1320G>A (p.Glu440=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33738841G>C | CA402175318 | ASXL3 | c.1440G>C (p.Glu480Asp) c.1437G>C (p.Glu479Asp) c.*561G>C (n.*561G>C) c.*1096G>C (n.*1096G>C) c.1649G>C (n.1649G>C) c.1269G>C (p.Glu423Asp) c.1317G>C (p.Glu439Asp) c.1413G>C (p.Glu471Asp) c.1359G>C (p.Glu453Asp) c.1320G>C (p.Glu440Asp) | |
18 | g.33738841G= | CA2294855701 | ASXL3 | c.1440G= (p.Glu480=) c.1437G= (p.Glu479=) c.*561G= (n.*561G=) c.*1096G= (n.*1096G=) c.1649G= (n.1649G=) c.1269G= (p.Glu423=) c.1317G= (p.Glu439=) c.1413G= (p.Glu471=) c.1359G= (p.Glu453=) c.1320G= (p.Glu440=) | |
18 | g.33738841G>T | CA402175319 | ASXL3 | c.1440G>T (p.Glu480Asp) c.1437G>T (p.Glu479Asp) c.*561G>T (n.*561G>T) c.*1096G>T (n.*1096G>T) c.1649G>T (n.1649G>T) c.1269G>T (p.Glu423Asp) c.1317G>T (p.Glu439Asp) c.1413G>T (p.Glu471Asp) c.1359G>T (p.Glu453Asp) c.1320G>T (p.Glu440Asp) | |
18 | g.33738842G>A | CA402175320 | ASXL3 | c.1441G>A (p.Ala481Thr) c.1438G>A (p.Ala480Thr) c.*562G>A (n.*562G>A) c.*1097G>A (n.*1097G>A) c.1650G>A (n.1650G>A) c.1270G>A (p.Ala424Thr) c.1318G>A (p.Ala440Thr) c.1414G>A (p.Ala472Thr) c.1360G>A (p.Ala454Thr) c.1321G>A (p.Ala441Thr) | |
18 | g.33738842G>C | CA402175321 | ASXL3 | c.1441G>C (p.Ala481Pro) c.1438G>C (p.Ala480Pro) c.*562G>C (n.*562G>C) c.*1097G>C (n.*1097G>C) c.1650G>C (n.1650G>C) c.1270G>C (p.Ala424Pro) c.1318G>C (p.Ala440Pro) c.1414G>C (p.Ala472Pro) c.1360G>C (p.Ala454Pro) c.1321G>C (p.Ala441Pro) | |
18 | g.33738842G>T | CA402175322 | ASXL3 | c.1441G>T (p.Ala481Ser) c.1438G>T (p.Ala480Ser) c.*562G>T (n.*562G>T) c.*1097G>T (n.*1097G>T) c.1650G>T (n.1650G>T) c.1270G>T (p.Ala424Ser) c.1318G>T (p.Ala440Ser) c.1414G>T (p.Ala472Ser) c.1360G>T (p.Ala454Ser) c.1321G>T (p.Ala441Ser) | |
18 | g.33738843C>A | CA402175325 | ASXL3 | c.1442C>A (p.Ala481Asp) c.1439C>A (p.Ala480Asp) c.*563C>A (n.*563C>A) c.*1098C>A (n.*1098C>A) c.1651C>A (n.1651C>A) c.1271C>A (p.Ala424Asp) c.1319C>A (p.Ala440Asp) c.1415C>A (p.Ala472Asp) c.1361C>A (p.Ala454Asp) c.1322C>A (p.Ala441Asp) | |
18 | g.33738843C= | CA2294855702 | ASXL3 | c.1442C= (p.Ala481=) c.1439C= (p.Ala480=) c.*563C= (n.*563C=) c.*1098C= (n.*1098C=) c.1651C= (n.1651C=) c.1271C= (p.Ala424=) c.1319C= (p.Ala440=) c.1415C= (p.Ala472=) c.1361C= (p.Ala454=) c.1322C= (p.Ala441=) | |
18 | g.33738843C>G | CA402175323 | ASXL3 | c.1442C>G (p.Ala481Gly) c.1439C>G (p.Ala480Gly) c.*563C>G (n.*563C>G) c.*1098C>G (n.*1098C>G) c.1651C>G (n.1651C>G) c.1271C>G (p.Ala424Gly) c.1319C>G (p.Ala440Gly) c.1415C>G (p.Ala472Gly) c.1361C>G (p.Ala454Gly) c.1322C>G (p.Ala441Gly) | |
18 | g.33738843C>T | CA402175324 | ASXL3 | c.1442C>T (p.Ala481Val) c.1439C>T (p.Ala480Val) c.*563C>T (n.*563C>T) c.*1098C>T (n.*1098C>T) c.1651C>T (n.1651C>T) c.1271C>T (p.Ala424Val) c.1319C>T (p.Ala440Val) c.1415C>T (p.Ala472Val) c.1361C>T (p.Ala454Val) c.1322C>T (p.Ala441Val) | dbSNP |
18 | g.33738844T>A | CA503768321 | ASXL3 | c.1443T>A (p.Ala481=) c.1440T>A (p.Ala480=) c.*564T>A (n.*564T>A) c.*1099T>A (n.*1099T>A) c.1652T>A (n.1652T>A) c.1272T>A (p.Ala424=) c.1320T>A (p.Ala440=) c.1416T>A (p.Ala472=) c.1362T>A (p.Ala454=) c.1323T>A (p.Ala441=) | |
18 | g.33738844T>C | CA503768322 | ASXL3 | c.1443T>C (p.Ala481=) c.1440T>C (p.Ala480=) c.*564T>C (n.*564T>C) c.*1099T>C (n.*1099T>C) c.1652T>C (n.1652T>C) c.1272T>C (p.Ala424=) c.1320T>C (p.Ala440=) c.1416T>C (p.Ala472=) c.1362T>C (p.Ala454=) c.1323T>C (p.Ala441=) | dbSNP |
18 | g.33738844T>G | CA503768323 | ASXL3 | c.1443T>G (p.Ala481=) c.1440T>G (p.Ala480=) c.*564T>G (n.*564T>G) c.*1099T>G (n.*1099T>G) c.1652T>G (n.1652T>G) c.1272T>G (p.Ala424=) c.1320T>G (p.Ala440=) c.1416T>G (p.Ala472=) c.1362T>G (p.Ala454=) c.1323T>G (p.Ala441=) | |
18 | g.33738845G>A | CA402175326 | ASXL3 | c.1444G>A (p.Glu482Lys) c.1441G>A (p.Glu481Lys) c.*565G>A (n.*565G>A) c.*1100G>A (n.*1100G>A) c.1653G>A (n.1653G>A) c.1273G>A (p.Glu425Lys) c.1321G>A (p.Glu441Lys) c.1417G>A (p.Glu473Lys) c.1363G>A (p.Glu455Lys) c.1324G>A (p.Glu442Lys) | |
18 | g.33738845G>C | CA402175327 | ASXL3 | c.1444G>C (p.Glu482Gln) c.1441G>C (p.Glu481Gln) c.*565G>C (n.*565G>C) c.*1100G>C (n.*1100G>C) c.1653G>C (n.1653G>C) c.1273G>C (p.Glu425Gln) c.1321G>C (p.Glu441Gln) c.1417G>C (p.Glu473Gln) c.1363G>C (p.Glu455Gln) c.1324G>C (p.Glu442Gln) | dbSNP |
18 | g.33738845G= | CA2294855704 | ASXL3 | c.1444G= (p.Glu482=) c.1441G= (p.Glu481=) c.*565G= (n.*565G=) c.*1100G= (n.*1100G=) c.1653G= (n.1653G=) c.1273G= (p.Glu425=) c.1321G= (p.Glu441=) c.1417G= (p.Glu473=) c.1363G= (p.Glu455=) c.1324G= (p.Glu442=) | |
18 | g.33738845G>T | CA402175328 | ASXL3 | c.1444G>T (p.Glu482Ter) c.1441G>T (p.Glu481Ter) c.*565G>T (n.*565G>T) c.*1100G>T (n.*1100G>T) c.1653G>T (n.1653G>T) c.1273G>T (p.Glu425Ter) c.1321G>T (p.Glu441Ter) c.1417G>T (p.Glu473Ter) c.1363G>T (p.Glu455Ter) c.1324G>T (p.Glu442Ter) | |
18 | g.33738845_33738846delinsGA | CA2294855703 | ASXL3 | c.1444_1445delinsGA (p.Glu482=) c.1441_1442delinsGA (p.Glu481=) c.*565_*566delinsGA (n.*565_*566delinsGA) c.*1100_*1101delinsGA (n.*1100_*1101delinsGA) c.1653_1654delinsGA (n.1653_1654delinsGA) c.1273_1274delinsGA (p.Glu425=) c.1321_1322delinsGA (p.Glu441=) c.1417_1418delinsGA (p.Glu473=) c.1363_1364delinsGA (p.Glu455=) c.1324_1325delinsGA (p.Glu442=) | |
18 | g.33738846A= | CA2294855706 | ASXL3 | c.1445A= (p.Glu482=) c.1442A= (p.Glu481=) c.*566A= (n.*566A=) c.*1101A= (n.*1101A=) c.1654A= (n.1654A=) c.1274A= (p.Glu425=) c.1322A= (p.Glu441=) c.1418A= (p.Glu473=) c.1364A= (p.Glu455=) c.1325A= (p.Glu442=) | |
18 | g.33738846A>C | CA402175329 | ASXL3 | c.1445A>C (p.Glu482Ala) c.1442A>C (p.Glu481Ala) c.*566A>C (n.*566A>C) c.*1101A>C (n.*1101A>C) c.1654A>C (n.1654A>C) c.1274A>C (p.Glu425Ala) c.1322A>C (p.Glu441Ala) c.1418A>C (p.Glu473Ala) c.1364A>C (p.Glu455Ala) c.1325A>C (p.Glu442Ala) | |
18 | g.33738846A>G | CA402175330 | ASXL3 | c.1445A>G (p.Glu482Gly) c.1442A>G (p.Glu481Gly) c.*566A>G (n.*566A>G) c.*1101A>G (n.*1101A>G) c.1654A>G (n.1654A>G) c.1274A>G (p.Glu425Gly) c.1322A>G (p.Glu441Gly) c.1418A>G (p.Glu473Gly) c.1364A>G (p.Glu455Gly) c.1325A>G (p.Glu442Gly) | |
18 | g.33738846A>T | CA402175331 | ASXL3 | c.1445A>T (p.Glu482Val) c.1442A>T (p.Glu481Val) c.*566A>T (n.*566A>T) c.*1101A>T (n.*1101A>T) c.1654A>T (n.1654A>T) c.1274A>T (p.Glu425Val) c.1322A>T (p.Glu441Val) c.1418A>T (p.Glu473Val) c.1364A>T (p.Glu455Val) c.1325A>T (p.Glu442Val) | dbSNP |
18 | g.33738848del | CA2294855705 | ASXL3 | c.1447del (p.Ser483ValfsTer2) c.1444del (p.Ser482ValfsTer2) c.*568del (n.*568del) c.*1103del (n.*1103del) c.1656del (n.1656del) c.1276del (p.Ser426ValfsTer2) c.1324del (p.Ser442ValfsTer2) c.1420del (p.Ser474ValfsTer2) c.1366del (p.Ser456ValfsTer2) c.1327del (p.Ser443ValfsTer2) | ClinVar dbSNP |
18 | g.33738847A>C | CA402175332 | ASXL3 | c.1446A>C (p.Glu482Asp) c.1443A>C (p.Glu481Asp) c.*567A>C (n.*567A>C) c.*1102A>C (n.*1102A>C) c.1655A>C (n.1655A>C) c.1275A>C (p.Glu425Asp) c.1323A>C (p.Glu441Asp) c.1419A>C (p.Glu473Asp) c.1365A>C (p.Glu455Asp) c.1326A>C (p.Glu442Asp) | |
18 | g.33738847A>G | CA503768325 | ASXL3 | c.1446A>G (p.Glu482=) c.1443A>G (p.Glu481=) c.*567A>G (n.*567A>G) c.*1102A>G (n.*1102A>G) c.1655A>G (n.1655A>G) c.1275A>G (p.Glu425=) c.1323A>G (p.Glu441=) c.1419A>G (p.Glu473=) c.1365A>G (p.Glu455=) c.1326A>G (p.Glu442=) | |
18 | g.33738847A>T | CA402175333 | ASXL3 | c.1446A>T (p.Glu482Asp) c.1443A>T (p.Glu481Asp) c.*567A>T (n.*567A>T) c.*1102A>T (n.*1102A>T) c.1655A>T (n.1655A>T) c.1275A>T (p.Glu425Asp) c.1323A>T (p.Glu441Asp) c.1419A>T (p.Glu473Asp) c.1365A>T (p.Glu455Asp) c.1326A>T (p.Glu442Asp) | |
18 | g.33738848A= | CA2294855707 | ASXL3 | c.1447A= (p.Ser483=) c.1444A= (p.Ser482=) c.*568A= (n.*568A=) c.*1103A= (n.*1103A=) c.1656A= (n.1656A=) c.1276A= (p.Ser426=) c.1324A= (p.Ser442=) c.1420A= (p.Ser474=) c.1366A= (p.Ser456=) c.1327A= (p.Ser443=) | |
18 | g.33738848A>C | CA402175334 | ASXL3 | c.1447A>C (p.Ser483Arg) c.1444A>C (p.Ser482Arg) c.*568A>C (n.*568A>C) c.*1103A>C (n.*1103A>C) c.1656A>C (n.1656A>C) c.1276A>C (p.Ser426Arg) c.1324A>C (p.Ser442Arg) c.1420A>C (p.Ser474Arg) c.1366A>C (p.Ser456Arg) c.1327A>C (p.Ser443Arg) | |
18 | g.33738848A>G | CA8933752 | ASXL3 | c.1447A>G (p.Ser483Gly) c.1444A>G (p.Ser482Gly) c.*568A>G (n.*568A>G) c.*1103A>G (n.*1103A>G) c.1656A>G (n.1656A>G) c.1276A>G (p.Ser426Gly) c.1324A>G (p.Ser442Gly) c.1420A>G (p.Ser474Gly) c.1366A>G (p.Ser456Gly) c.1327A>G (p.Ser443Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738848A>T | CA402175335 | ASXL3 | c.1447A>T (p.Ser483Cys) c.1444A>T (p.Ser482Cys) c.*568A>T (n.*568A>T) c.*1103A>T (n.*1103A>T) c.1656A>T (n.1656A>T) c.1276A>T (p.Ser426Cys) c.1324A>T (p.Ser442Cys) c.1420A>T (p.Ser474Cys) c.1366A>T (p.Ser456Cys) c.1327A>T (p.Ser443Cys) | |
18 | g.33738849G>A | CA402175338 | ASXL3 | c.1448G>A (p.Ser483Asn) c.1445G>A (p.Ser482Asn) c.*569G>A (n.*569G>A) c.*1104G>A (n.*1104G>A) c.1657G>A (n.1657G>A) c.1277G>A (p.Ser426Asn) c.1325G>A (p.Ser442Asn) c.1421G>A (p.Ser474Asn) c.1367G>A (p.Ser456Asn) c.1328G>A (p.Ser443Asn) | gnomAD v4 |
18 | g.33738849G>C | CA402175340 | ASXL3 | c.1448G>C (p.Ser483Thr) c.1445G>C (p.Ser482Thr) c.*569G>C (n.*569G>C) c.*1104G>C (n.*1104G>C) c.1657G>C (n.1657G>C) c.1277G>C (p.Ser426Thr) c.1325G>C (p.Ser442Thr) c.1421G>C (p.Ser474Thr) c.1367G>C (p.Ser456Thr) c.1328G>C (p.Ser443Thr) | gnomAD v4 |
18 | g.33738849G>T | CA402175336 | ASXL3 | c.1448G>T (p.Ser483Ile) c.1445G>T (p.Ser482Ile) c.*569G>T (n.*569G>T) c.*1104G>T (n.*1104G>T) c.1657G>T (n.1657G>T) c.1277G>T (p.Ser426Ile) c.1325G>T (p.Ser442Ile) c.1421G>T (p.Ser474Ile) c.1367G>T (p.Ser456Ile) c.1328G>T (p.Ser443Ile) | |
18 | g.33738850T>A | CA402175343 | ASXL3 | c.1449T>A (p.Ser483Arg) c.1446T>A (p.Ser482Arg) c.*570T>A (n.*570T>A) c.*1105T>A (n.*1105T>A) c.1658T>A (n.1658T>A) c.1278T>A (p.Ser426Arg) c.1326T>A (p.Ser442Arg) c.1422T>A (p.Ser474Arg) c.1368T>A (p.Ser456Arg) c.1329T>A (p.Ser443Arg) | |
18 | g.33738850T>C | CA503768329 | ASXL3 | c.1449T>C (p.Ser483=) c.1446T>C (p.Ser482=) c.*570T>C (n.*570T>C) c.*1105T>C (n.*1105T>C) c.1658T>C (n.1658T>C) c.1278T>C (p.Ser426=) c.1326T>C (p.Ser442=) c.1422T>C (p.Ser474=) c.1368T>C (p.Ser456=) c.1329T>C (p.Ser443=) | |
18 | g.33738850T>G | CA402175345 | ASXL3 | c.1449T>G (p.Ser483Arg) c.1446T>G (p.Ser482Arg) c.*570T>G (n.*570T>G) c.*1105T>G (n.*1105T>G) c.1658T>G (n.1658T>G) c.1278T>G (p.Ser426Arg) c.1326T>G (p.Ser442Arg) c.1422T>G (p.Ser474Arg) c.1368T>G (p.Ser456Arg) c.1329T>G (p.Ser443Arg) | gnomAD v4 |
18 | g.33738851C>A | CA402175348 | ASXL3 | c.1450C>A (p.Leu484Ile) c.1447C>A (p.Leu483Ile) c.*571C>A (n.*571C>A) c.*1106C>A (n.*1106C>A) c.1659C>A (n.1659C>A) c.1279C>A (p.Leu427Ile) c.1327C>A (p.Leu443Ile) c.1423C>A (p.Leu475Ile) c.1369C>A (p.Leu457Ile) c.1330C>A (p.Leu444Ile) | |
18 | g.33738851C= | CA2294855708 | ASXL3 | c.1450C= (p.Leu484=) c.1447C= (p.Leu483=) c.*571C= (n.*571C=) c.*1106C= (n.*1106C=) c.1659C= (n.1659C=) c.1279C= (p.Leu427=) c.1327C= (p.Leu443=) c.1423C= (p.Leu475=) c.1369C= (p.Leu457=) c.1330C= (p.Leu444=) | |
18 | g.33738851C>G | CA402175350 | ASXL3 | c.1450C>G (p.Leu484Val) c.1447C>G (p.Leu483Val) c.*571C>G (n.*571C>G) c.*1106C>G (n.*1106C>G) c.1659C>G (n.1659C>G) c.1279C>G (p.Leu427Val) c.1327C>G (p.Leu443Val) c.1423C>G (p.Leu475Val) c.1369C>G (p.Leu457Val) c.1330C>G (p.Leu444Val) | |
18 | g.33738851C>T | CA503768330 | ASXL3 | c.1450C>T (p.Leu484=) c.1447C>T (p.Leu483=) c.*571C>T (n.*571C>T) c.*1106C>T (n.*1106C>T) c.1659C>T (n.1659C>T) c.1279C>T (p.Leu427=) c.1327C>T (p.Leu443=) c.1423C>T (p.Leu475=) c.1369C>T (p.Leu457=) c.1330C>T (p.Leu444=) | |
18 | g.33738852T>A | CA402175353 | ASXL3 | c.1451T>A (p.Leu484Gln) c.1448T>A (p.Leu483Gln) c.*572T>A (n.*572T>A) c.*1107T>A (n.*1107T>A) c.1660T>A (n.1660T>A) c.1280T>A (p.Leu427Gln) c.1328T>A (p.Leu443Gln) c.1424T>A (p.Leu475Gln) c.1370T>A (p.Leu457Gln) c.1331T>A (p.Leu444Gln) | |
18 | g.33738852T>C | CA402175355 | ASXL3 | c.1451T>C (p.Leu484Pro) c.1448T>C (p.Leu483Pro) c.*572T>C (n.*572T>C) c.*1107T>C (n.*1107T>C) c.1660T>C (n.1660T>C) c.1280T>C (p.Leu427Pro) c.1328T>C (p.Leu443Pro) c.1424T>C (p.Leu475Pro) c.1370T>C (p.Leu457Pro) c.1331T>C (p.Leu444Pro) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33738852T>G | CA402175357 | ASXL3 | c.1451T>G (p.Leu484Arg) c.1448T>G (p.Leu483Arg) c.*572T>G (n.*572T>G) c.*1107T>G (n.*1107T>G) c.1660T>G (n.1660T>G) c.1280T>G (p.Leu427Arg) c.1328T>G (p.Leu443Arg) c.1424T>G (p.Leu475Arg) c.1370T>G (p.Leu457Arg) c.1331T>G (p.Leu444Arg) | |
18 | g.33738852T= | CA2294855709 | ASXL3 | c.1451T= (p.Leu484=) c.1448T= (p.Leu483=) c.*572T= (n.*572T=) c.*1107T= (n.*1107T=) c.1660T= (n.1660T=) c.1280T= (p.Leu427=) c.1328T= (p.Leu443=) c.1424T= (p.Leu475=) c.1370T= (p.Leu457=) c.1331T= (p.Leu444=) | |
18 | g.33738852dup | CA658799026 | ASXL3 | c.1451dup (p.Thr485AsnfsTer5) c.1448dup (p.Thr484AsnfsTer5) c.*572dup (n.*572dup) c.*1107dup (n.*1107dup) c.1660dup (n.1660dup) c.1280dup (p.Thr428AsnfsTer5) c.1328dup (p.Thr444AsnfsTer5) c.1424dup (p.Thr476AsnfsTer5) c.1370dup (p.Thr458AsnfsTer5) c.1331dup (p.Thr445AsnfsTer5) | ClinVar dbSNP |
18 | g.33738853A= | CA2294855710 | ASXL3 | c.1452A= (p.Leu484=) c.1449A= (p.Leu483=) c.*573A= (n.*573A=) c.*1108A= (n.*1108A=) c.1661A= (n.1661A=) c.1281A= (p.Leu427=) c.1329A= (p.Leu443=) c.1425A= (p.Leu475=) c.1371A= (p.Leu457=) c.1332A= (p.Leu444=) | |
18 | g.33738853A>C | CA503768336 | ASXL3 | c.1452A>C (p.Leu484=) c.1449A>C (p.Leu483=) c.*573A>C (n.*573A>C) c.*1108A>C (n.*1108A>C) c.1661A>C (n.1661A>C) c.1281A>C (p.Leu427=) c.1329A>C (p.Leu443=) c.1425A>C (p.Leu475=) c.1371A>C (p.Leu457=) c.1332A>C (p.Leu444=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738853A>G | CA503768335 | ASXL3 | c.1452A>G (p.Leu484=) c.1449A>G (p.Leu483=) c.*573A>G (n.*573A>G) c.*1108A>G (n.*1108A>G) c.1661A>G (n.1661A>G) c.1281A>G (p.Leu427=) c.1329A>G (p.Leu443=) c.1425A>G (p.Leu475=) c.1371A>G (p.Leu457=) c.1332A>G (p.Leu444=) | |
18 | g.33738853A>T | CA503768334 | ASXL3 | c.1452A>T (p.Leu484=) c.1449A>T (p.Leu483=) c.*573A>T (n.*573A>T) c.*1108A>T (n.*1108A>T) c.1661A>T (n.1661A>T) c.1281A>T (p.Leu427=) c.1329A>T (p.Leu443=) c.1425A>T (p.Leu475=) c.1371A>T (p.Leu457=) c.1332A>T (p.Leu444=) | |
18 | g.33738855_33738858del | CA2695227379 | ASXL3 | c.1454_1457del (p.Thr485IlefsTer8) c.1451_1454del (p.Thr484IlefsTer8) c.*575_*578del (n.*575_*578del) c.*1110_*1113del (n.*1110_*1113del) c.1663_1666del (n.1663_1666del) c.1283_1286del (p.Thr428IlefsTer8) c.1331_1334del (p.Thr444IlefsTer8) c.1427_1430del (p.Thr476IlefsTer8) c.1373_1376del (p.Thr458IlefsTer8) c.1334_1337del (p.Thr445IlefsTer8) | |
18 | g.33738854A>C | CA402175359 | ASXL3 | c.1453A>C (p.Thr485Pro) c.1450A>C (p.Thr484Pro) c.*574A>C (n.*574A>C) c.*1109A>C (n.*1109A>C) c.1662A>C (n.1662A>C) c.1282A>C (p.Thr428Pro) c.1330A>C (p.Thr444Pro) c.1426A>C (p.Thr476Pro) c.1372A>C (p.Thr458Pro) c.1333A>C (p.Thr445Pro) | COSMIC COSMIC |
18 | g.33738854A>G | CA402175362 | ASXL3 | c.1453A>G (p.Thr485Ala) c.1450A>G (p.Thr484Ala) c.*574A>G (n.*574A>G) c.*1109A>G (n.*1109A>G) c.1662A>G (n.1662A>G) c.1282A>G (p.Thr428Ala) c.1330A>G (p.Thr444Ala) c.1426A>G (p.Thr476Ala) c.1372A>G (p.Thr458Ala) c.1333A>G (p.Thr445Ala) | COSMIC COSMIC |
18 | g.33738854A>T | CA402175364 | ASXL3 | c.1453A>T (p.Thr485Ser) c.1450A>T (p.Thr484Ser) c.*574A>T (n.*574A>T) c.*1109A>T (n.*1109A>T) c.1662A>T (n.1662A>T) c.1282A>T (p.Thr428Ser) c.1330A>T (p.Thr444Ser) c.1426A>T (p.Thr476Ser) c.1372A>T (p.Thr458Ser) c.1333A>T (p.Thr445Ser) | |
18 | g.33738855C>A | CA402175367 | ASXL3 | c.1454C>A (p.Thr485Asn) c.1451C>A (p.Thr484Asn) c.*575C>A (n.*575C>A) c.*1110C>A (n.*1110C>A) c.1663C>A (n.1663C>A) c.1283C>A (p.Thr428Asn) c.1331C>A (p.Thr444Asn) c.1427C>A (p.Thr476Asn) c.1373C>A (p.Thr458Asn) c.1334C>A (p.Thr445Asn) | |
18 | g.33738855C= | CA2294855711 | ASXL3 | c.1454C= (p.Thr485=) c.1451C= (p.Thr484=) c.*575C= (n.*575C=) c.*1110C= (n.*1110C=) c.1663C= (n.1663C=) c.1283C= (p.Thr428=) c.1331C= (p.Thr444=) c.1427C= (p.Thr476=) c.1373C= (p.Thr458=) c.1334C= (p.Thr445=) | |
18 | g.33738855C>G | CA402175369 | ASXL3 | c.1454C>G (p.Thr485Ser) c.1451C>G (p.Thr484Ser) c.*575C>G (n.*575C>G) c.*1110C>G (n.*1110C>G) c.1663C>G (n.1663C>G) c.1283C>G (p.Thr428Ser) c.1331C>G (p.Thr444Ser) c.1427C>G (p.Thr476Ser) c.1373C>G (p.Thr458Ser) c.1334C>G (p.Thr445Ser) | |
18 | g.33738855C>T | CA8933753 | ASXL3 | c.1454C>T (p.Thr485Ile) c.1451C>T (p.Thr484Ile) c.*575C>T (n.*575C>T) c.*1110C>T (n.*1110C>T) c.1663C>T (n.1663C>T) c.1283C>T (p.Thr428Ile) c.1331C>T (p.Thr444Ile) c.1427C>T (p.Thr476Ile) c.1373C>T (p.Thr458Ile) c.1334C>T (p.Thr445Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33738856C>A | CA503768340 | ASXL3 | c.1455C>A (p.Thr485=) c.1452C>A (p.Thr484=) c.*576C>A (n.*576C>A) c.*1111C>A (n.*1111C>A) c.1664C>A (n.1664C>A) c.1284C>A (p.Thr428=) c.1332C>A (p.Thr444=) c.1428C>A (p.Thr476=) c.1374C>A (p.Thr458=) c.1335C>A (p.Thr445=) | gnomAD v3 gnomAD v4 |
18 | g.33738856C>G | CA503768342 | ASXL3 | c.1455C>G (p.Thr485=) c.1452C>G (p.Thr484=) c.*576C>G (n.*576C>G) c.*1111C>G (n.*1111C>G) c.1664C>G (n.1664C>G) c.1284C>G (p.Thr428=) c.1332C>G (p.Thr444=) c.1428C>G (p.Thr476=) c.1374C>G (p.Thr458=) c.1335C>G (p.Thr445=) | |
18 | g.33738856C>T | CA503768341 | ASXL3 | c.1455C>T (p.Thr485=) c.1452C>T (p.Thr484=) c.*576C>T (n.*576C>T) c.*1111C>T (n.*1111C>T) c.1664C>T (n.1664C>T) c.1284C>T (p.Thr428=) c.1332C>T (p.Thr444=) c.1428C>T (p.Thr476=) c.1374C>T (p.Thr458=) c.1335C>T (p.Thr445=) | |
18 | g.33738857A= | CA2294855712 | ASXL3 | c.1456A= (p.Asn486=) c.1453A= (p.Asn485=) c.*577A= (n.*577A=) c.*1112A= (n.*1112A=) c.1665A= (n.1665A=) c.1285A= (p.Asn429=) c.1333A= (p.Asn445=) c.1429A= (p.Asn477=) c.1375A= (p.Asn459=) c.1336A= (p.Asn446=) | |
18 | g.33738857A>C | CA402175377 | ASXL3 | c.1456A>C (p.Asn486His) c.1453A>C (p.Asn485His) c.*577A>C (n.*577A>C) c.*1112A>C (n.*1112A>C) c.1665A>C (n.1665A>C) c.1285A>C (p.Asn429His) c.1333A>C (p.Asn445His) c.1429A>C (p.Asn477His) c.1375A>C (p.Asn459His) c.1336A>C (p.Asn446His) | |
18 | g.33738857A>G | CA402175376 | ASXL3 | c.1456A>G (p.Asn486Asp) c.1453A>G (p.Asn485Asp) c.*577A>G (n.*577A>G) c.*1112A>G (n.*1112A>G) c.1665A>G (n.1665A>G) c.1285A>G (p.Asn429Asp) c.1333A>G (p.Asn445Asp) c.1429A>G (p.Asn477Asp) c.1375A>G (p.Asn459Asp) c.1336A>G (p.Asn446Asp) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33738857A>T | CA402175373 | ASXL3 | c.1456A>T (p.Asn486Tyr) c.1453A>T (p.Asn485Tyr) c.*577A>T (n.*577A>T) c.*1112A>T (n.*1112A>T) c.1665A>T (n.1665A>T) c.1285A>T (p.Asn429Tyr) c.1333A>T (p.Asn445Tyr) c.1429A>T (p.Asn477Tyr) c.1375A>T (p.Asn459Tyr) c.1336A>T (p.Asn446Tyr) | |
18 | g.33738858A= | CA2294855713 | ASXL3 | c.1457A= (p.Asn486=) c.1454A= (p.Asn485=) c.*578A= (n.*578A=) c.*1113A= (n.*1113A=) c.1666A= (n.1666A=) c.1286A= (p.Asn429=) c.1334A= (p.Asn445=) c.1430A= (p.Asn477=) c.1376A= (p.Asn459=) c.1337A= (p.Asn446=) | |
18 | g.33738858A>C | CA402175381 | ASXL3 | c.1457A>C (p.Asn486Thr) c.1454A>C (p.Asn485Thr) c.*578A>C (n.*578A>C) c.*1113A>C (n.*1113A>C) c.1666A>C (n.1666A>C) c.1286A>C (p.Asn429Thr) c.1334A>C (p.Asn445Thr) c.1430A>C (p.Asn477Thr) c.1376A>C (p.Asn459Thr) c.1337A>C (p.Asn446Thr) | ClinVar |
18 | g.33738858A>G | CA209344 | ASXL3 | c.1457A>G (p.Asn486Ser) c.1454A>G (p.Asn485Ser) c.*578A>G (n.*578A>G) c.*1113A>G (n.*1113A>G) c.1666A>G (n.1666A>G) c.1286A>G (p.Asn429Ser) c.1334A>G (p.Asn445Ser) c.1430A>G (p.Asn477Ser) c.1376A>G (p.Asn459Ser) c.1337A>G (p.Asn446Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738858A>T | CA402175385 | ASXL3 | c.1457A>T (p.Asn486Ile) c.1454A>T (p.Asn485Ile) c.*578A>T (n.*578A>T) c.*1113A>T (n.*1113A>T) c.1666A>T (n.1666A>T) c.1286A>T (p.Asn429Ile) c.1334A>T (p.Asn445Ile) c.1430A>T (p.Asn477Ile) c.1376A>T (p.Asn459Ile) c.1337A>T (p.Asn446Ile) | |
18 | g.33738859T>A | CA8933755 | ASXL3 | c.1458T>A (p.Asn486Lys) c.1455T>A (p.Asn485Lys) c.*579T>A (n.*579T>A) c.*1114T>A (n.*1114T>A) c.1667T>A (n.1667T>A) c.1287T>A (p.Asn429Lys) c.1335T>A (p.Asn445Lys) c.1431T>A (p.Asn477Lys) c.1377T>A (p.Asn459Lys) c.1338T>A (p.Asn446Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738859T>C | CA503768346 | ASXL3 | c.1458T>C (p.Asn486=) c.1455T>C (p.Asn485=) c.*579T>C (n.*579T>C) c.*1114T>C (n.*1114T>C) c.1667T>C (n.1667T>C) c.1287T>C (p.Asn429=) c.1335T>C (p.Asn445=) c.1431T>C (p.Asn477=) c.1377T>C (p.Asn459=) c.1338T>C (p.Asn446=) | |
18 | g.33738859T>G | CA8933754 | ASXL3 | c.1458T>G (p.Asn486Lys) c.1455T>G (p.Asn485Lys) c.*579T>G (n.*579T>G) c.*1114T>G (n.*1114T>G) c.1667T>G (n.1667T>G) c.1287T>G (p.Asn429Lys) c.1335T>G (p.Asn445Lys) c.1431T>G (p.Asn477Lys) c.1377T>G (p.Asn459Lys) c.1338T>G (p.Asn446Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33738859T= | CA2294855714 | ASXL3 | c.1458T= (p.Asn486=) c.1455T= (p.Asn485=) c.*579T= (n.*579T=) c.*1114T= (n.*1114T=) c.1667T= (n.1667T=) c.1287T= (p.Asn429=) c.1335T= (p.Asn445=) c.1431T= (p.Asn477=) c.1377T= (p.Asn459=) c.1338T= (p.Asn446=) | |
18 | g.33738860T>A | CA402175391 | ASXL3 | c.1459T>A (p.Ser487Thr) c.1456T>A (p.Ser486Thr) c.*580T>A (n.*580T>A) c.*1115T>A (n.*1115T>A) c.1668T>A (n.1668T>A) c.1288T>A (p.Ser430Thr) c.1336T>A (p.Ser446Thr) c.1432T>A (p.Ser478Thr) c.1378T>A (p.Ser460Thr) c.1339T>A (p.Ser447Thr) | |
18 | g.33738860T>C | CA402175393 | ASXL3 | c.1459T>C (p.Ser487Pro) c.1456T>C (p.Ser486Pro) c.*580T>C (n.*580T>C) c.*1115T>C (n.*1115T>C) c.1668T>C (n.1668T>C) c.1288T>C (p.Ser430Pro) c.1336T>C (p.Ser446Pro) c.1432T>C (p.Ser478Pro) c.1378T>C (p.Ser460Pro) c.1339T>C (p.Ser447Pro) | |
18 | g.33738860T>G | CA402175395 | ASXL3 | c.1459T>G (p.Ser487Ala) c.1456T>G (p.Ser486Ala) c.*580T>G (n.*580T>G) c.*1115T>G (n.*1115T>G) c.1668T>G (n.1668T>G) c.1288T>G (p.Ser430Ala) c.1336T>G (p.Ser446Ala) c.1432T>G (p.Ser478Ala) c.1378T>G (p.Ser460Ala) c.1339T>G (p.Ser447Ala) | |
18 | g.33738861C>A | CA402175398 | ASXL3 | c.1460C>A (p.Ser487Tyr) c.1457C>A (p.Ser486Tyr) c.*581C>A (n.*581C>A) c.*1116C>A (n.*1116C>A) c.1669C>A (n.1669C>A) c.1289C>A (p.Ser430Tyr) c.1337C>A (p.Ser446Tyr) c.1433C>A (p.Ser478Tyr) c.1379C>A (p.Ser460Tyr) c.1340C>A (p.Ser447Tyr) | dbSNP |
18 | g.33738861C>G | CA402175401 | ASXL3 | c.1460C>G (p.Ser487Cys) c.1457C>G (p.Ser486Cys) c.*581C>G (n.*581C>G) c.*1116C>G (n.*1116C>G) c.1669C>G (n.1669C>G) c.1289C>G (p.Ser430Cys) c.1337C>G (p.Ser446Cys) c.1433C>G (p.Ser478Cys) c.1379C>G (p.Ser460Cys) c.1340C>G (p.Ser447Cys) | |
18 | g.33738861C>T | CA402175403 | ASXL3 | c.1460C>T (p.Ser487Phe) c.1457C>T (p.Ser486Phe) c.*581C>T (n.*581C>T) c.*1116C>T (n.*1116C>T) c.1669C>T (n.1669C>T) c.1289C>T (p.Ser430Phe) c.1337C>T (p.Ser446Phe) c.1433C>T (p.Ser478Phe) c.1379C>T (p.Ser460Phe) c.1340C>T (p.Ser447Phe) | |
18 | g.33738862del | CA2695227380 | ASXL3 | c.1461del (p.His488MetfsTer6) c.1458del (p.His487MetfsTer6) c.*582del (n.*582del) c.*1117del (n.*1117del) c.1670del (n.1670del) c.1290del (p.His431MetfsTer6) c.1338del (p.His447MetfsTer6) c.1434del (p.His479MetfsTer6) c.1380del (p.His461MetfsTer6) c.1341del (p.His448MetfsTer6) | |
18 | g.33738862T>A | CA503768350 | ASXL3 | c.1461T>A (p.Ser487=) c.1458T>A (p.Ser486=) c.*582T>A (n.*582T>A) c.*1117T>A (n.*1117T>A) c.1670T>A (n.1670T>A) c.1290T>A (p.Ser430=) c.1338T>A (p.Ser446=) c.1434T>A (p.Ser478=) c.1380T>A (p.Ser460=) c.1341T>A (p.Ser447=) | |
18 | g.33738862T>C | CA503768351 | ASXL3 | c.1461T>C (p.Ser487=) c.1458T>C (p.Ser486=) c.*582T>C (n.*582T>C) c.*1117T>C (n.*1117T>C) c.1670T>C (n.1670T>C) c.1290T>C (p.Ser430=) c.1338T>C (p.Ser446=) c.1434T>C (p.Ser478=) c.1380T>C (p.Ser460=) c.1341T>C (p.Ser447=) | |
18 | g.33738862T>G | CA503768352 | ASXL3 | c.1461T>G (p.Ser487=) c.1458T>G (p.Ser486=) c.*582T>G (n.*582T>G) c.*1117T>G (n.*1117T>G) c.1670T>G (n.1670T>G) c.1290T>G (p.Ser430=) c.1338T>G (p.Ser446=) c.1434T>G (p.Ser478=) c.1380T>G (p.Ser460=) c.1341T>G (p.Ser447=) | |
18 | g.33738863C>A | CA402175406 | ASXL3 | c.1462C>A (p.His488Asn) c.1459C>A (p.His487Asn) c.*583C>A (n.*583C>A) c.*1118C>A (n.*1118C>A) c.1671C>A (n.1671C>A) c.1291C>A (p.His431Asn) c.1339C>A (p.His447Asn) c.1435C>A (p.His479Asn) c.1381C>A (p.His461Asn) c.1342C>A (p.His448Asn) | |
18 | g.33738863C= | CA2294855715 | ASXL3 | c.1462C= (p.His488=) c.1459C= (p.His487=) c.*583C= (n.*583C=) c.*1118C= (n.*1118C=) c.1671C= (n.1671C=) c.1291C= (p.His431=) c.1339C= (p.His447=) c.1435C= (p.His479=) c.1381C= (p.His461=) c.1342C= (p.His448=) | |
18 | g.33738863C>G | CA402175408 | ASXL3 | c.1462C>G (p.His488Asp) c.1459C>G (p.His487Asp) c.*583C>G (n.*583C>G) c.*1118C>G (n.*1118C>G) c.1671C>G (n.1671C>G) c.1291C>G (p.His431Asp) c.1339C>G (p.His447Asp) c.1435C>G (p.His479Asp) c.1381C>G (p.His461Asp) c.1342C>G (p.His448Asp) | |
18 | g.33738863C>T | CA8933756 | ASXL3 | c.1462C>T (p.His488Tyr) c.1459C>T (p.His487Tyr) c.*583C>T (n.*583C>T) c.*1118C>T (n.*1118C>T) c.1671C>T (n.1671C>T) c.1291C>T (p.His431Tyr) c.1339C>T (p.His447Tyr) c.1435C>T (p.His479Tyr) c.1381C>T (p.His461Tyr) c.1342C>T (p.His448Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33738864A>C | CA402175415 | ASXL3 | c.1463A>C (p.His488Pro) c.1460A>C (p.His487Pro) c.*584A>C (n.*584A>C) c.*1119A>C (n.*1119A>C) c.1672A>C (n.1672A>C) c.1292A>C (p.His431Pro) c.1340A>C (p.His447Pro) c.1436A>C (p.His479Pro) c.1382A>C (p.His461Pro) c.1343A>C (p.His448Pro) | gnomAD v4 |
18 | g.33738864A>G | CA402175417 | ASXL3 | c.1463A>G (p.His488Arg) c.1460A>G (p.His487Arg) c.*584A>G (n.*584A>G) c.*1119A>G (n.*1119A>G) c.1672A>G (n.1672A>G) c.1292A>G (p.His431Arg) c.1340A>G (p.His447Arg) c.1436A>G (p.His479Arg) c.1382A>G (p.His461Arg) c.1343A>G (p.His448Arg) | |
18 | g.33738864A>T | CA402175413 | ASXL3 | c.1463A>T (p.His488Leu) c.1460A>T (p.His487Leu) c.*584A>T (n.*584A>T) c.*1119A>T (n.*1119A>T) c.1672A>T (n.1672A>T) c.1292A>T (p.His431Leu) c.1340A>T (p.His447Leu) c.1436A>T (p.His479Leu) c.1382A>T (p.His461Leu) c.1343A>T (p.His448Leu) | |
18 | g.33738865T>A | CA402175423 | ASXL3 | c.1464T>A (p.His488Gln) c.1461T>A (p.His487Gln) c.*585T>A (n.*585T>A) c.*1120T>A (n.*1120T>A) c.1673T>A (n.1673T>A) c.1293T>A (p.His431Gln) c.1341T>A (p.His447Gln) c.1437T>A (p.His479Gln) c.1383T>A (p.His461Gln) c.1344T>A (p.His448Gln) | |
18 | g.33738865T>C | CA8933757 | ASXL3 | c.1464T>C (p.His488=) c.1461T>C (p.His487=) c.*585T>C (n.*585T>C) c.*1120T>C (n.*1120T>C) c.1673T>C (n.1673T>C) c.1293T>C (p.His431=) c.1341T>C (p.His447=) c.1437T>C (p.His479=) c.1383T>C (p.His461=) c.1344T>C (p.His448=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738865T>G | CA402175420 | ASXL3 | c.1464T>G (p.His488Gln) c.1461T>G (p.His487Gln) c.*585T>G (n.*585T>G) c.*1120T>G (n.*1120T>G) c.1673T>G (n.1673T>G) c.1293T>G (p.His431Gln) c.1341T>G (p.His447Gln) c.1437T>G (p.His479Gln) c.1383T>G (p.His461Gln) c.1344T>G (p.His448Gln) | |
18 | g.33738865T= | CA2294855716 | ASXL3 | c.1464T= (p.His488=) c.1461T= (p.His487=) c.*585T= (n.*585T=) c.*1120T= (n.*1120T=) c.1673T= (n.1673T=) c.1293T= (p.His431=) c.1341T= (p.His447=) c.1437T= (p.His479=) c.1383T= (p.His461=) c.1344T= (p.His448=) | |
18 | g.33738866G>A | CA402175425 | ASXL3 | c.1465G>A (p.Glu489Lys) c.1462G>A (p.Glu488Lys) c.*586G>A (n.*586G>A) c.*1121G>A (n.*1121G>A) c.1674G>A (n.1674G>A) c.1294G>A (p.Glu432Lys) c.1342G>A (p.Glu448Lys) c.1438G>A (p.Glu480Lys) c.1384G>A (p.Glu462Lys) c.1345G>A (p.Glu449Lys) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33738866G>C | CA402175428 | ASXL3 | c.1465G>C (p.Glu489Gln) c.1462G>C (p.Glu488Gln) c.*586G>C (n.*586G>C) c.*1121G>C (n.*1121G>C) c.1674G>C (n.1674G>C) c.1294G>C (p.Glu432Gln) c.1342G>C (p.Glu448Gln) c.1438G>C (p.Glu480Gln) c.1384G>C (p.Glu462Gln) c.1345G>C (p.Glu449Gln) | |
18 | g.33738866G= | CA2294855717 | ASXL3 | c.1465G= (p.Glu489=) c.1462G= (p.Glu488=) c.*586G= (n.*586G=) c.*1121G= (n.*1121G=) c.1674G= (n.1674G=) c.1294G= (p.Glu432=) c.1342G= (p.Glu448=) c.1438G= (p.Glu480=) c.1384G= (p.Glu462=) c.1345G= (p.Glu449=) | |
18 | g.33738866G>T | CA402175430 | ASXL3 | c.1465G>T (p.Glu489Ter) c.1462G>T (p.Glu488Ter) c.*586G>T (n.*586G>T) c.*1121G>T (n.*1121G>T) c.1674G>T (n.1674G>T) c.1294G>T (p.Glu432Ter) c.1342G>T (p.Glu448Ter) c.1438G>T (p.Glu480Ter) c.1384G>T (p.Glu462Ter) c.1345G>T (p.Glu449Ter) | gnomAD v4 |
18 | g.33738869_33738871del | CA2641456704 | ASXL3 | c.1468_1470del (p.Glu490del) c.1465_1467del (p.Glu489del) c.*589_*591del (n.*589_*591del) c.*1124_*1126del (n.*1124_*1126del) c.1677_1679del (n.1677_1679del) c.1297_1299del (p.Glu433del) c.1345_1347del (p.Glu449del) c.1441_1443del (p.Glu481del) c.1387_1389del (p.Glu463del) c.1348_1350del (p.Glu450del) | gnomAD v4 |
18 | g.33738867A>C | CA402175437 | ASXL3 | c.1466A>C (p.Glu489Ala) c.1463A>C (p.Glu488Ala) c.*587A>C (n.*587A>C) c.*1122A>C (n.*1122A>C) c.1675A>C (n.1675A>C) c.1295A>C (p.Glu432Ala) c.1343A>C (p.Glu448Ala) c.1439A>C (p.Glu480Ala) c.1385A>C (p.Glu462Ala) c.1346A>C (p.Glu449Ala) | |
18 | g.33738867A>G | CA402175434 | ASXL3 | c.1466A>G (p.Glu489Gly) c.1463A>G (p.Glu488Gly) c.*587A>G (n.*587A>G) c.*1122A>G (n.*1122A>G) c.1675A>G (n.1675A>G) c.1295A>G (p.Glu432Gly) c.1343A>G (p.Glu448Gly) c.1439A>G (p.Glu480Gly) c.1385A>G (p.Glu462Gly) c.1346A>G (p.Glu449Gly) | |
18 | g.33738867A>T | CA402175432 | ASXL3 | c.1466A>T (p.Glu489Val) c.1463A>T (p.Glu488Val) c.*587A>T (n.*587A>T) c.*1122A>T (n.*1122A>T) c.1675A>T (n.1675A>T) c.1295A>T (p.Glu432Val) c.1343A>T (p.Glu448Val) c.1439A>T (p.Glu480Val) c.1385A>T (p.Glu462Val) c.1346A>T (p.Glu449Val) | |
18 | g.33738868A= | CA2294855718 | ASXL3 | c.1467A= (p.Glu489=) c.1464A= (p.Glu488=) c.*588A= (n.*588A=) c.*1123A= (n.*1123A=) c.1676A= (n.1676A=) c.1296A= (p.Glu432=) c.1344A= (p.Glu448=) c.1440A= (p.Glu480=) c.1386A= (p.Glu462=) c.1347A= (p.Glu449=) | |
18 | g.33738868A>C | CA402175441 | ASXL3 | c.1467A>C (p.Glu489Asp) c.1464A>C (p.Glu488Asp) c.*588A>C (n.*588A>C) c.*1123A>C (n.*1123A>C) c.1676A>C (n.1676A>C) c.1296A>C (p.Glu432Asp) c.1344A>C (p.Glu448Asp) c.1440A>C (p.Glu480Asp) c.1386A>C (p.Glu462Asp) c.1347A>C (p.Glu449Asp) | |
18 | g.33738868A>G | CA297786707 | ASXL3 | c.1467A>G (p.Glu489=) c.1464A>G (p.Glu488=) c.*588A>G (n.*588A>G) c.*1123A>G (n.*1123A>G) c.1676A>G (n.1676A>G) c.1296A>G (p.Glu432=) c.1344A>G (p.Glu448=) c.1440A>G (p.Glu480=) c.1386A>G (p.Glu462=) c.1347A>G (p.Glu449=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738868A>T | CA402175445 | ASXL3 | c.1467A>T (p.Glu489Asp) c.1464A>T (p.Glu488Asp) c.*588A>T (n.*588A>T) c.*1123A>T (n.*1123A>T) c.1676A>T (n.1676A>T) c.1296A>T (p.Glu432Asp) c.1344A>T (p.Glu448Asp) c.1440A>T (p.Glu480Asp) c.1386A>T (p.Glu462Asp) c.1347A>T (p.Glu449Asp) | |
18 | g.33738869G>A | CA402175449 | ASXL3 | c.1468G>A (p.Glu490Lys) c.1465G>A (p.Glu489Lys) c.*589G>A (n.*589G>A) c.*1124G>A (n.*1124G>A) c.1677G>A (n.1677G>A) c.1297G>A (p.Glu433Lys) c.1345G>A (p.Glu449Lys) c.1441G>A (p.Glu481Lys) c.1387G>A (p.Glu463Lys) c.1348G>A (p.Glu450Lys) | |
18 | g.33738869G>C | CA402175451 | ASXL3 | c.1468G>C (p.Glu490Gln) c.1465G>C (p.Glu489Gln) c.*589G>C (n.*589G>C) c.*1124G>C (n.*1124G>C) c.1677G>C (n.1677G>C) c.1297G>C (p.Glu433Gln) c.1345G>C (p.Glu449Gln) c.1441G>C (p.Glu481Gln) c.1387G>C (p.Glu463Gln) c.1348G>C (p.Glu450Gln) | |
18 | g.33738869G>T | CA402175452 | ASXL3 | c.1468G>T (p.Glu490Ter) c.1465G>T (p.Glu489Ter) c.*589G>T (n.*589G>T) c.*1124G>T (n.*1124G>T) c.1677G>T (n.1677G>T) c.1297G>T (p.Glu433Ter) c.1345G>T (p.Glu449Ter) c.1441G>T (p.Glu481Ter) c.1387G>T (p.Glu463Ter) c.1348G>T (p.Glu450Ter) | ClinVar dbSNP |
18 | g.33738870A>C | CA402175455 | ASXL3 | c.1469A>C (p.Glu490Ala) c.1466A>C (p.Glu489Ala) c.*590A>C (n.*590A>C) c.*1125A>C (n.*1125A>C) c.1678A>C (n.1678A>C) c.1298A>C (p.Glu433Ala) c.1346A>C (p.Glu449Ala) c.1442A>C (p.Glu481Ala) c.1388A>C (p.Glu463Ala) c.1349A>C (p.Glu450Ala) | |
18 | g.33738870A>G | CA402175459 | ASXL3 | c.1469A>G (p.Glu490Gly) c.1466A>G (p.Glu489Gly) c.*590A>G (n.*590A>G) c.*1125A>G (n.*1125A>G) c.1678A>G (n.1678A>G) c.1298A>G (p.Glu433Gly) c.1346A>G (p.Glu449Gly) c.1442A>G (p.Glu481Gly) c.1388A>G (p.Glu463Gly) c.1349A>G (p.Glu450Gly) | |
18 | g.33738870A>T | CA402175457 | ASXL3 | c.1469A>T (p.Glu490Val) c.1466A>T (p.Glu489Val) c.*590A>T (n.*590A>T) c.*1125A>T (n.*1125A>T) c.1678A>T (n.1678A>T) c.1298A>T (p.Glu433Val) c.1346A>T (p.Glu449Val) c.1442A>T (p.Glu481Val) c.1388A>T (p.Glu463Val) c.1349A>T (p.Glu450Val) | |
18 | g.33738871A>C | CA402175462 | ASXL3 | c.1470A>C (p.Glu490Asp) c.1467A>C (p.Glu489Asp) c.*591A>C (n.*591A>C) c.*1126A>C (n.*1126A>C) c.1679A>C (n.1679A>C) c.1299A>C (p.Glu433Asp) c.1347A>C (p.Glu449Asp) c.1443A>C (p.Glu481Asp) c.1389A>C (p.Glu463Asp) c.1350A>C (p.Glu450Asp) | |
18 | g.33738871A>G | CA503768362 | ASXL3 | c.1470A>G (p.Glu490=) c.1467A>G (p.Glu489=) c.*591A>G (n.*591A>G) c.*1126A>G (n.*1126A>G) c.1679A>G (n.1679A>G) c.1299A>G (p.Glu433=) c.1347A>G (p.Glu449=) c.1443A>G (p.Glu481=) c.1389A>G (p.Glu463=) c.1350A>G (p.Glu450=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33738871A>T | CA402175463 | ASXL3 | c.1470A>T (p.Glu490Asp) c.1467A>T (p.Glu489Asp) c.*591A>T (n.*591A>T) c.*1126A>T (n.*1126A>T) c.1679A>T (n.1679A>T) c.1299A>T (p.Glu433Asp) c.1347A>T (p.Glu449Asp) c.1443A>T (p.Glu481Asp) c.1389A>T (p.Glu463Asp) c.1350A>T (p.Glu450Asp) | |
18 | g.33738872C>A | CA402175466 | ASXL3 | c.1471C>A (p.Pro491Thr) c.1468C>A (p.Pro490Thr) c.*592C>A (n.*592C>A) c.*1127C>A (n.*1127C>A) c.1680C>A (n.1680C>A) c.1300C>A (p.Pro434Thr) c.1348C>A (p.Pro450Thr) c.1444C>A (p.Pro482Thr) c.1390C>A (p.Pro464Thr) c.1351C>A (p.Pro451Thr) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33738872C= | CA2294855719 | ASXL3 | c.1471C= (p.Pro491=) c.1468C= (p.Pro490=) c.*592C= (n.*592C=) c.*1127C= (n.*1127C=) c.1680C= (n.1680C=) c.1300C= (p.Pro434=) c.1348C= (p.Pro450=) c.1444C= (p.Pro482=) c.1390C= (p.Pro464=) c.1351C= (p.Pro451=) | |
18 | g.33738872C>G | CA402175468 | ASXL3 | c.1471C>G (p.Pro491Ala) c.1468C>G (p.Pro490Ala) c.*592C>G (n.*592C>G) c.*1127C>G (n.*1127C>G) c.1680C>G (n.1680C>G) c.1300C>G (p.Pro434Ala) c.1348C>G (p.Pro450Ala) c.1444C>G (p.Pro482Ala) c.1390C>G (p.Pro464Ala) c.1351C>G (p.Pro451Ala) | |
18 | g.33738872C>T | CA402175471 | ASXL3 | c.1471C>T (p.Pro491Ser) c.1468C>T (p.Pro490Ser) c.*592C>T (n.*592C>T) c.*1127C>T (n.*1127C>T) c.1680C>T (n.1680C>T) c.1300C>T (p.Pro434Ser) c.1348C>T (p.Pro450Ser) c.1444C>T (p.Pro482Ser) c.1390C>T (p.Pro464Ser) c.1351C>T (p.Pro451Ser) | |
18 | g.33738873C>A | CA402175473 | ASXL3 | c.1472C>A (p.Pro491His) c.1469C>A (p.Pro490His) c.*593C>A (n.*593C>A) c.*1128C>A (n.*1128C>A) c.1681C>A (n.1681C>A) c.1301C>A (p.Pro434His) c.1349C>A (p.Pro450His) c.1445C>A (p.Pro482His) c.1391C>A (p.Pro464His) c.1352C>A (p.Pro451His) | |
18 | g.33738873C>G | CA402175476 | ASXL3 | c.1472C>G (p.Pro491Arg) c.1469C>G (p.Pro490Arg) c.*593C>G (n.*593C>G) c.*1128C>G (n.*1128C>G) c.1681C>G (n.1681C>G) c.1301C>G (p.Pro434Arg) c.1349C>G (p.Pro450Arg) c.1445C>G (p.Pro482Arg) c.1391C>G (p.Pro464Arg) c.1352C>G (p.Pro451Arg) | |
18 | g.33738873C>T | CA402175478 | ASXL3 | c.1472C>T (p.Pro491Leu) c.1469C>T (p.Pro490Leu) c.*593C>T (n.*593C>T) c.*1128C>T (n.*1128C>T) c.1681C>T (n.1681C>T) c.1301C>T (p.Pro434Leu) c.1349C>T (p.Pro450Leu) c.1445C>T (p.Pro482Leu) c.1391C>T (p.Pro464Leu) c.1352C>T (p.Pro451Leu) | |
18 | g.33738874C>A | CA503768365 | ASXL3 | c.1473C>A (p.Pro491=) c.1470C>A (p.Pro490=) c.*594C>A (n.*594C>A) c.*1129C>A (n.*1129C>A) c.1682C>A (n.1682C>A) c.1302C>A (p.Pro434=) c.1350C>A (p.Pro450=) c.1446C>A (p.Pro482=) c.1392C>A (p.Pro464=) c.1353C>A (p.Pro451=) | gnomAD v4 |
18 | g.33738874C>G | CA503768366 | ASXL3 | c.1473C>G (p.Pro491=) c.1470C>G (p.Pro490=) c.*594C>G (n.*594C>G) c.*1129C>G (n.*1129C>G) c.1682C>G (n.1682C>G) c.1302C>G (p.Pro434=) c.1350C>G (p.Pro450=) c.1446C>G (p.Pro482=) c.1392C>G (p.Pro464=) c.1353C>G (p.Pro451=) | |
18 | g.33738874C>T | CA503768367 | ASXL3 | c.1473C>T (p.Pro491=) c.1470C>T (p.Pro490=) c.*594C>T (n.*594C>T) c.*1129C>T (n.*1129C>T) c.1682C>T (n.1682C>T) c.1302C>T (p.Pro434=) c.1350C>T (p.Pro450=) c.1446C>T (p.Pro482=) c.1392C>T (p.Pro464=) c.1353C>T (p.Pro451=) | |
18 | g.33738875C>A | CA402175481 | ASXL3 | c.1474C>A (p.Gln492Lys) c.1471C>A (p.Gln491Lys) c.*595C>A (n.*595C>A) c.*1130C>A (n.*1130C>A) c.1683C>A (n.1683C>A) c.1303C>A (p.Gln435Lys) c.1351C>A (p.Gln451Lys) c.1447C>A (p.Gln483Lys) c.1393C>A (p.Gln465Lys) c.1354C>A (p.Gln452Lys) | |
18 | g.33738875C= | CA2294855720 | ASXL3 | c.1474C= (p.Gln492=) c.1471C= (p.Gln491=) c.*595C= (n.*595C=) c.*1130C= (n.*1130C=) c.1683C= (n.1683C=) c.1303C= (p.Gln435=) c.1351C= (p.Gln451=) c.1447C= (p.Gln483=) c.1393C= (p.Gln465=) c.1354C= (p.Gln452=) | |
18 | g.33738875C>G | CA402175483 | ASXL3 | c.1474C>G (p.Gln492Glu) c.1471C>G (p.Gln491Glu) c.*595C>G (n.*595C>G) c.*1130C>G (n.*1130C>G) c.1683C>G (n.1683C>G) c.1303C>G (p.Gln435Glu) c.1351C>G (p.Gln451Glu) c.1447C>G (p.Gln483Glu) c.1393C>G (p.Gln465Glu) c.1354C>G (p.Gln452Glu) | |
18 | g.33738875C>T | CA16616935 | ASXL3 | c.1474C>T (p.Gln492Ter) c.1471C>T (p.Gln491Ter) c.*595C>T (n.*595C>T) c.*1130C>T (n.*1130C>T) c.1683C>T (n.1683C>T) c.1303C>T (p.Gln435Ter) c.1351C>T (p.Gln451Ter) c.1447C>T (p.Gln483Ter) c.1393C>T (p.Gln465Ter) c.1354C>T (p.Gln452Ter) | ClinVar dbSNP |
18 | g.33738876A>C | CA402175489 | ASXL3 | c.1475A>C (p.Gln492Pro) c.1472A>C (p.Gln491Pro) c.*596A>C (n.*596A>C) c.*1131A>C (n.*1131A>C) c.1684A>C (n.1684A>C) c.1304A>C (p.Gln435Pro) c.1352A>C (p.Gln451Pro) c.1448A>C (p.Gln483Pro) c.1394A>C (p.Gln465Pro) c.1355A>C (p.Gln452Pro) | |
18 | g.33738876A>G | CA402175487 | ASXL3 | c.1475A>G (p.Gln492Arg) c.1472A>G (p.Gln491Arg) c.*596A>G (n.*596A>G) c.*1131A>G (n.*1131A>G) c.1684A>G (n.1684A>G) c.1304A>G (p.Gln435Arg) c.1352A>G (p.Gln451Arg) c.1448A>G (p.Gln483Arg) c.1394A>G (p.Gln465Arg) c.1355A>G (p.Gln452Arg) | |
18 | g.33738876A>T | CA402175485 | ASXL3 | c.1475A>T (p.Gln492Leu) c.1472A>T (p.Gln491Leu) c.*596A>T (n.*596A>T) c.*1131A>T (n.*1131A>T) c.1684A>T (n.1684A>T) c.1304A>T (p.Gln435Leu) c.1352A>T (p.Gln451Leu) c.1448A>T (p.Gln483Leu) c.1394A>T (p.Gln465Leu) c.1355A>T (p.Gln452Leu) | |
18 | g.33738878del | CA645601886 | ASXL3 | c.1477del (p.Ile493Ter) c.1474del (p.Ile492Ter) c.*598del (n.*598del) c.*1133del (n.*1133del) c.1686del (n.1686del) c.1306del (p.Ile436Ter) c.1354del (p.Ile452Ter) c.1450del (p.Ile484Ter) c.1396del (p.Ile466Ter) c.1357del (p.Ile453Ter) | COSMIC COSMIC |
18 | g.33738877A= | CA2294855721 | ASXL3 | c.1476A= (p.Gln492=) c.1473A= (p.Gln491=) c.*597A= (n.*597A=) c.*1132A= (n.*1132A=) c.1685A= (n.1685A=) c.1305A= (p.Gln435=) c.1353A= (p.Gln451=) c.1449A= (p.Gln483=) c.1395A= (p.Gln465=) c.1356A= (p.Gln452=) | |
18 | g.33738877A>C | CA402175496 | ASXL3 | c.1476A>C (p.Gln492His) c.1473A>C (p.Gln491His) c.*597A>C (n.*597A>C) c.*1132A>C (n.*1132A>C) c.1685A>C (n.1685A>C) c.1305A>C (p.Gln435His) c.1353A>C (p.Gln451His) c.1449A>C (p.Gln483His) c.1395A>C (p.Gln465His) c.1356A>C (p.Gln452His) | |
18 | g.33738877A>G | CA8933758 | ASXL3 | c.1476A>G (p.Gln492=) c.1473A>G (p.Gln491=) c.*597A>G (n.*597A>G) c.*1132A>G (n.*1132A>G) c.1685A>G (n.1685A>G) c.1305A>G (p.Gln435=) c.1353A>G (p.Gln451=) c.1449A>G (p.Gln483=) c.1395A>G (p.Gln465=) c.1356A>G (p.Gln452=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33738877A>T | CA402175494 | ASXL3 | c.1476A>T (p.Gln492His) c.1473A>T (p.Gln491His) c.*597A>T (n.*597A>T) c.*1132A>T (n.*1132A>T) c.1685A>T (n.1685A>T) c.1305A>T (p.Gln435His) c.1353A>T (p.Gln451His) c.1449A>T (p.Gln483His) c.1395A>T (p.Gln465His) c.1356A>T (p.Gln452His) | |
18 | g.33738878A= | CA2294855722 | ASXL3 | c.1477A= (p.Ile493=) c.1474A= (p.Ile492=) c.*598A= (n.*598A=) c.*1133A= (n.*1133A=) c.1686A= (n.1686A=) c.1306A= (p.Ile436=) c.1354A= (p.Ile452=) c.1450A= (p.Ile484=) c.1396A= (p.Ile466=) c.1357A= (p.Ile453=) | |
18 | g.33738878A>C | CA297786710 | ASXL3 | c.1477A>C (p.Ile493Leu) c.1474A>C (p.Ile492Leu) c.*598A>C (n.*598A>C) c.*1133A>C (n.*1133A>C) c.1686A>C (n.1686A>C) c.1306A>C (p.Ile436Leu) c.1354A>C (p.Ile452Leu) c.1450A>C (p.Ile484Leu) c.1396A>C (p.Ile466Leu) c.1357A>C (p.Ile453Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738878A>G | CA402175500 | ASXL3 | c.1477A>G (p.Ile493Val) c.1474A>G (p.Ile492Val) c.*598A>G (n.*598A>G) c.*1133A>G (n.*1133A>G) c.1686A>G (n.1686A>G) c.1306A>G (p.Ile436Val) c.1354A>G (p.Ile452Val) c.1450A>G (p.Ile484Val) c.1396A>G (p.Ile466Val) c.1357A>G (p.Ile453Val) | |
18 | g.33738878A>T | CA402175502 | ASXL3 | c.1477A>T (p.Ile493Leu) c.1474A>T (p.Ile492Leu) c.*598A>T (n.*598A>T) c.*1133A>T (n.*1133A>T) c.1686A>T (n.1686A>T) c.1306A>T (p.Ile436Leu) c.1354A>T (p.Ile452Leu) c.1450A>T (p.Ile484Leu) c.1396A>T (p.Ile466Leu) c.1357A>T (p.Ile453Leu) | |
18 | g.33738879T>A | CA402175505 | ASXL3 | c.1478T>A (p.Ile493Lys) c.1475T>A (p.Ile492Lys) c.*599T>A (n.*599T>A) c.*1134T>A (n.*1134T>A) c.1687T>A (n.1687T>A) c.1307T>A (p.Ile436Lys) c.1355T>A (p.Ile452Lys) c.1451T>A (p.Ile484Lys) c.1397T>A (p.Ile466Lys) c.1358T>A (p.Ile453Lys) | |
18 | g.33738879T>C | CA402175507 | ASXL3 | c.1478T>C (p.Ile493Thr) c.1475T>C (p.Ile492Thr) c.*599T>C (n.*599T>C) c.*1134T>C (n.*1134T>C) c.1687T>C (n.1687T>C) c.1307T>C (p.Ile436Thr) c.1355T>C (p.Ile452Thr) c.1451T>C (p.Ile484Thr) c.1397T>C (p.Ile466Thr) c.1358T>C (p.Ile453Thr) | |
18 | g.33738879T>G | CA402175510 | ASXL3 | c.1478T>G (p.Ile493Arg) c.1475T>G (p.Ile492Arg) c.*599T>G (n.*599T>G) c.*1134T>G (n.*1134T>G) c.1687T>G (n.1687T>G) c.1307T>G (p.Ile436Arg) c.1355T>G (p.Ile452Arg) c.1451T>G (p.Ile484Arg) c.1397T>G (p.Ile466Arg) c.1358T>G (p.Ile453Arg) | |
18 | g.33738880A>C | CA503768373 | ASXL3 | c.1479A>C (p.Ile493=) c.1476A>C (p.Ile492=) c.*600A>C (n.*600A>C) c.*1135A>C (n.*1135A>C) c.1688A>C (n.1688A>C) c.1308A>C (p.Ile436=) c.1356A>C (p.Ile452=) c.1452A>C (p.Ile484=) c.1398A>C (p.Ile466=) c.1359A>C (p.Ile453=) | |
18 | g.33738880A>G | CA402175512 | ASXL3 | c.1479A>G (p.Ile493Met) c.1476A>G (p.Ile492Met) c.*600A>G (n.*600A>G) c.*1135A>G (n.*1135A>G) c.1688A>G (n.1688A>G) c.1308A>G (p.Ile436Met) c.1356A>G (p.Ile452Met) c.1452A>G (p.Ile484Met) c.1398A>G (p.Ile466Met) c.1359A>G (p.Ile453Met) | |
18 | g.33738880A>T | CA503768374 | ASXL3 | c.1479A>T (p.Ile493=) c.1476A>T (p.Ile492=) c.*600A>T (n.*600A>T) c.*1135A>T (n.*1135A>T) c.1688A>T (n.1688A>T) c.1308A>T (p.Ile436=) c.1356A>T (p.Ile452=) c.1452A>T (p.Ile484=) c.1398A>T (p.Ile466=) c.1359A>T (p.Ile453=) | |
18 | g.33738881G>A | CA402175516 | ASXL3 | c.1480G>A (p.Ala494Thr) c.1477G>A (p.Ala493Thr) c.*601G>A (n.*601G>A) c.*1136G>A (n.*1136G>A) c.1689G>A (n.1689G>A) c.1309G>A (p.Ala437Thr) c.1357G>A (p.Ala453Thr) c.1453G>A (p.Ala485Thr) c.1399G>A (p.Ala467Thr) c.1360G>A (p.Ala454Thr) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33738881G>C | CA402175518 | ASXL3 | c.1480G>C (p.Ala494Pro) c.1477G>C (p.Ala493Pro) c.*601G>C (n.*601G>C) c.*1136G>C (n.*1136G>C) c.1689G>C (n.1689G>C) c.1309G>C (p.Ala437Pro) c.1357G>C (p.Ala453Pro) c.1453G>C (p.Ala485Pro) c.1399G>C (p.Ala467Pro) c.1360G>C (p.Ala454Pro) | |
18 | g.33738881G= | CA2294855723 | ASXL3 | c.1480G= (p.Ala494=) c.1477G= (p.Ala493=) c.*601G= (n.*601G=) c.*1136G= (n.*1136G=) c.1689G= (n.1689G=) c.1309G= (p.Ala437=) c.1357G= (p.Ala453=) c.1453G= (p.Ala485=) c.1399G= (p.Ala467=) c.1360G= (p.Ala454=) | |
18 | g.33738881G>T | CA402175520 | ASXL3 | c.1480G>T (p.Ala494Ser) c.1477G>T (p.Ala493Ser) c.*601G>T (n.*601G>T) c.*1136G>T (n.*1136G>T) c.1689G>T (n.1689G>T) c.1309G>T (p.Ala437Ser) c.1357G>T (p.Ala453Ser) c.1453G>T (p.Ala485Ser) c.1399G>T (p.Ala467Ser) c.1360G>T (p.Ala454Ser) | |
18 | g.33738881_33738883delinsGCA | CA2294855724 | ASXL3 | c.1480_1482delinsGCA (p.Ala494=) c.1477_1479delinsGCA (p.Ala493=) c.*601_*603delinsGCA (n.*601_*603delinsGCA) c.*1136_*1138delinsGCA (n.*1136_*1138delinsGCA) c.1689_1691delinsGCA (n.1689_1691delinsGCA) c.1309_1311delinsGCA (p.Ala437=) c.1357_1359delinsGCA (p.Ala453=) c.1453_1455delinsGCA (p.Ala485=) c.1399_1401delinsGCA (p.Ala467=) c.1360_1362delinsGCA (p.Ala454=) | |
18 | g.33738882C>A | CA402175526 | ASXL3 | c.1481C>A (p.Ala494Glu) c.1478C>A (p.Ala493Glu) c.*602C>A (n.*602C>A) c.*1137C>A (n.*1137C>A) c.1690C>A (n.1690C>A) c.1310C>A (p.Ala437Glu) c.1358C>A (p.Ala453Glu) c.1454C>A (p.Ala485Glu) c.1400C>A (p.Ala467Glu) c.1361C>A (p.Ala454Glu) | |
18 | g.33738882C= | CA2294855725 | ASXL3 | c.1481C= (p.Ala494=) c.1478C= (p.Ala493=) c.*602C= (n.*602C=) c.*1137C= (n.*1137C=) c.1690C= (n.1690C=) c.1310C= (p.Ala437=) c.1358C= (p.Ala453=) c.1454C= (p.Ala485=) c.1400C= (p.Ala467=) c.1361C= (p.Ala454=) | |
18 | g.33738882C>G | CA402175529 | ASXL3 | c.1481C>G (p.Ala494Gly) c.1478C>G (p.Ala493Gly) c.*602C>G (n.*602C>G) c.*1137C>G (n.*1137C>G) c.1690C>G (n.1690C>G) c.1310C>G (p.Ala437Gly) c.1358C>G (p.Ala453Gly) c.1454C>G (p.Ala485Gly) c.1400C>G (p.Ala467Gly) c.1361C>G (p.Ala454Gly) | dbSNP gnomAD v2 |
18 | g.33738882C>T | CA402175522 | ASXL3 | c.1481C>T (p.Ala494Val) c.1478C>T (p.Ala493Val) c.*602C>T (n.*602C>T) c.*1137C>T (n.*1137C>T) c.1690C>T (n.1690C>T) c.1310C>T (p.Ala437Val) c.1358C>T (p.Ala453Val) c.1454C>T (p.Ala485Val) c.1400C>T (p.Ala467Val) c.1361C>T (p.Ala454Val) | |
18 | g.33738883_33738884del | CA1139666017 | ASXL3 | c.1482_1483del (p.Pro495SerfsTer2) c.1479_1480del (p.Pro494SerfsTer2) c.*603_*604del (n.*603_*604del) c.*1138_*1139del (n.*1138_*1139del) c.1691_1692del (n.1691_1692del) c.1311_1312del (p.Pro438SerfsTer2) c.1359_1360del (p.Pro454SerfsTer2) c.1455_1456del (p.Pro486SerfsTer2) c.1401_1402del (p.Pro468SerfsTer2) c.1362_1363del (p.Pro455SerfsTer2) | ClinVar dbSNP |
18 | g.33738883A= | CA2294855726 | ASXL3 | c.1482A= (p.Ala494=) c.1479A= (p.Ala493=) c.*603A= (n.*603A=) c.*1138A= (n.*1138A=) c.1691A= (n.1691A=) c.1311A= (p.Ala437=) c.1359A= (p.Ala453=) c.1455A= (p.Ala485=) c.1401A= (p.Ala467=) c.1362A= (p.Ala454=) | |
18 | g.33738883A>C | CA503768378 | ASXL3 | c.1482A>C (p.Ala494=) c.1479A>C (p.Ala493=) c.*603A>C (n.*603A>C) c.*1138A>C (n.*1138A>C) c.1691A>C (n.1691A>C) c.1311A>C (p.Ala437=) c.1359A>C (p.Ala453=) c.1455A>C (p.Ala485=) c.1401A>C (p.Ala467=) c.1362A>C (p.Ala454=) | |
18 | g.33738883A>G | CA503768379 | ASXL3 | c.1482A>G (p.Ala494=) c.1479A>G (p.Ala493=) c.*603A>G (n.*603A>G) c.*1138A>G (n.*1138A>G) c.1691A>G (n.1691A>G) c.1311A>G (p.Ala437=) c.1359A>G (p.Ala453=) c.1455A>G (p.Ala485=) c.1401A>G (p.Ala467=) c.1362A>G (p.Ala454=) | dbSNP |
18 | g.33738883A>T | CA503768380 | ASXL3 | c.1482A>T (p.Ala494=) c.1479A>T (p.Ala493=) c.*603A>T (n.*603A>T) c.*1138A>T (n.*1138A>T) c.1691A>T (n.1691A>T) c.1311A>T (p.Ala437=) c.1359A>T (p.Ala453=) c.1455A>T (p.Ala485=) c.1401A>T (p.Ala467=) c.1362A>T (p.Ala454=) | |
18 | g.33738883_33738884insTGCT | CA1139666018 | ASXL3 | c.1482_1483insTGCT (p.Pro495CysfsTer4) c.1479_1480insTGCT (p.Pro494CysfsTer4) c.*603_*604insTGCT (n.*603_*604insTGCT) c.*1138_*1139insTGCT (n.*1138_*1139insTGCT) c.1691_1692insTGCT (n.1691_1692insTGCT) c.1311_1312insTGCT (p.Pro438CysfsTer4) c.1359_1360insTGCT (p.Pro454CysfsTer4) c.1455_1456insTGCT (p.Pro486CysfsTer4) c.1401_1402insTGCT (p.Pro468CysfsTer4) c.1362_1363insTGCT (p.Pro455CysfsTer4) | ClinVar dbSNP |
18 | g.33738884C>A | CA402175532 | ASXL3 | c.1483C>A (p.Pro495Thr) c.1480C>A (p.Pro494Thr) c.*604C>A (n.*604C>A) c.*1139C>A (n.*1139C>A) c.1692C>A (n.1692C>A) c.1312C>A (p.Pro438Thr) c.1360C>A (p.Pro454Thr) c.1456C>A (p.Pro486Thr) c.1402C>A (p.Pro468Thr) c.1363C>A (p.Pro455Thr) | |
18 | g.33738884C>G | CA402175535 | ASXL3 | c.1483C>G (p.Pro495Ala) c.1480C>G (p.Pro494Ala) c.*604C>G (n.*604C>G) c.*1139C>G (n.*1139C>G) c.1692C>G (n.1692C>G) c.1312C>G (p.Pro438Ala) c.1360C>G (p.Pro454Ala) c.1456C>G (p.Pro486Ala) c.1402C>G (p.Pro468Ala) c.1363C>G (p.Pro455Ala) | |
18 | g.33738884C>T | CA402175537 | ASXL3 | c.1483C>T (p.Pro495Ser) c.1480C>T (p.Pro494Ser) c.*604C>T (n.*604C>T) c.*1139C>T (n.*1139C>T) c.1692C>T (n.1692C>T) c.1312C>T (p.Pro438Ser) c.1360C>T (p.Pro454Ser) c.1456C>T (p.Pro486Ser) c.1402C>T (p.Pro468Ser) c.1363C>T (p.Pro455Ser) | gnomAD v4 |
18 | g.33738885C>A | CA402175541 | ASXL3 | c.1484C>A (p.Pro495His) c.1481C>A (p.Pro494His) c.*605C>A (n.*605C>A) c.*1140C>A (n.*1140C>A) c.1693C>A (n.1693C>A) c.1313C>A (p.Pro438His) c.1361C>A (p.Pro454His) c.1457C>A (p.Pro486His) c.1403C>A (p.Pro468His) c.1364C>A (p.Pro455His) | |
18 | g.33738885C>G | CA402175543 | ASXL3 | c.1484C>G (p.Pro495Arg) c.1481C>G (p.Pro494Arg) c.*605C>G (n.*605C>G) c.*1140C>G (n.*1140C>G) c.1693C>G (n.1693C>G) c.1313C>G (p.Pro438Arg) c.1361C>G (p.Pro454Arg) c.1457C>G (p.Pro486Arg) c.1403C>G (p.Pro468Arg) c.1364C>G (p.Pro455Arg) | gnomAD v4 |
18 | g.33738885C>T | CA402175545 | ASXL3 | c.1484C>T (p.Pro495Leu) c.1481C>T (p.Pro494Leu) c.*605C>T (n.*605C>T) c.*1140C>T (n.*1140C>T) c.1693C>T (n.1693C>T) c.1313C>T (p.Pro438Leu) c.1361C>T (p.Pro454Leu) c.1457C>T (p.Pro486Leu) c.1403C>T (p.Pro468Leu) c.1364C>T (p.Pro455Leu) | |
18 | g.33738886T>A | CA503768384 | ASXL3 | c.1485T>A (p.Pro495=) c.1482T>A (p.Pro494=) c.*606T>A (n.*606T>A) c.*1141T>A (n.*1141T>A) c.1694T>A (n.1694T>A) c.1314T>A (p.Pro438=) c.1362T>A (p.Pro454=) c.1458T>A (p.Pro486=) c.1404T>A (p.Pro468=) c.1365T>A (p.Pro455=) | |
18 | g.33738886T>C | CA8933759 | ASXL3 | c.1485T>C (p.Pro495=) c.1482T>C (p.Pro494=) c.*606T>C (n.*606T>C) c.*1141T>C (n.*1141T>C) c.1694T>C (n.1694T>C) c.1314T>C (p.Pro438=) c.1362T>C (p.Pro454=) c.1458T>C (p.Pro486=) c.1404T>C (p.Pro468=) c.1365T>C (p.Pro455=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33738886T>G | CA503768385 | ASXL3 | c.1485T>G (p.Pro495=) c.1482T>G (p.Pro494=) c.*606T>G (n.*606T>G) c.*1141T>G (n.*1141T>G) c.1694T>G (n.1694T>G) c.1314T>G (p.Pro438=) c.1362T>G (p.Pro454=) c.1458T>G (p.Pro486=) c.1404T>G (p.Pro468=) c.1365T>G (p.Pro455=) | |
18 | g.33738886T= | CA2294855727 | ASXL3 | c.1485T= (p.Pro495=) c.1482T= (p.Pro494=) c.*606T= (n.*606T=) c.*1141T= (n.*1141T=) c.1694T= (n.1694T=) c.1314T= (p.Pro438=) c.1362T= (p.Pro454=) c.1458T= (p.Pro486=) c.1404T= (p.Pro468=) c.1365T= (p.Pro455=) | |
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=) |