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.33738805T>A | CA402175233 | ASXL3 | c.1404T>A (p.Asp468Glu) c.1401T>A (p.Asp467Glu) c.*525T>A (n.*525T>A) c.*1060T>A (n.*1060T>A) c.1613T>A (n.1613T>A) c.1233T>A (p.Asp411Glu) c.1281T>A (p.Asp427Glu) c.1377T>A (p.Asp459Glu) c.1323T>A (p.Asp441Glu) c.1284T>A (p.Asp428Glu) | |
18 | g.33738805T>C | CA503768192 | ASXL3 | c.1404T>C (p.Asp468=) c.1401T>C (p.Asp467=) c.*525T>C (n.*525T>C) c.*1060T>C (n.*1060T>C) c.1613T>C (n.1613T>C) c.1233T>C (p.Asp411=) c.1281T>C (p.Asp427=) c.1377T>C (p.Asp459=) c.1323T>C (p.Asp441=) c.1284T>C (p.Asp428=) | |
18 | g.33738805T>G | CA402175234 | ASXL3 | c.1404T>G (p.Asp468Glu) c.1401T>G (p.Asp467Glu) c.*525T>G (n.*525T>G) c.*1060T>G (n.*1060T>G) c.1613T>G (n.1613T>G) c.1233T>G (p.Asp411Glu) c.1281T>G (p.Asp427Glu) c.1377T>G (p.Asp459Glu) c.1323T>G (p.Asp441Glu) c.1284T>G (p.Asp428Glu) | gnomAD v4 |
18 | g.33738806G>A | CA402175235 | ASXL3 | c.1405G>A (p.Glu469Lys) c.1402G>A (p.Glu468Lys) c.*526G>A (n.*526G>A) c.*1061G>A (n.*1061G>A) c.1614G>A (n.1614G>A) c.1234G>A (p.Glu412Lys) c.1282G>A (p.Glu428Lys) c.1378G>A (p.Glu460Lys) c.1324G>A (p.Glu442Lys) c.1285G>A (p.Glu429Lys) | gnomAD v4 |
18 | g.33738806G>C | CA402175236 | ASXL3 | c.1405G>C (p.Glu469Gln) c.1402G>C (p.Glu468Gln) c.*526G>C (n.*526G>C) c.*1061G>C (n.*1061G>C) c.1614G>C (n.1614G>C) c.1234G>C (p.Glu412Gln) c.1282G>C (p.Glu428Gln) c.1378G>C (p.Glu460Gln) c.1324G>C (p.Glu442Gln) c.1285G>C (p.Glu429Gln) | |
18 | g.33738806G>T | CA402175237 | ASXL3 | c.1405G>T (p.Glu469Ter) c.1402G>T (p.Glu468Ter) c.*526G>T (n.*526G>T) c.*1061G>T (n.*1061G>T) c.1614G>T (n.1614G>T) c.1234G>T (p.Glu412Ter) c.1282G>T (p.Glu428Ter) c.1378G>T (p.Glu460Ter) c.1324G>T (p.Glu442Ter) c.1285G>T (p.Glu429Ter) | ClinVar dbSNP |
18 | g.33738807A>C | CA402175238 | ASXL3 | c.1406A>C (p.Glu469Ala) c.1403A>C (p.Glu468Ala) c.*527A>C (n.*527A>C) c.*1062A>C (n.*1062A>C) c.1615A>C (n.1615A>C) c.1235A>C (p.Glu412Ala) c.1283A>C (p.Glu428Ala) c.1379A>C (p.Glu460Ala) c.1325A>C (p.Glu442Ala) c.1286A>C (p.Glu429Ala) | |
18 | g.33738807A>G | CA402175239 | ASXL3 | c.1406A>G (p.Glu469Gly) c.1403A>G (p.Glu468Gly) c.*527A>G (n.*527A>G) c.*1062A>G (n.*1062A>G) c.1615A>G (n.1615A>G) c.1235A>G (p.Glu412Gly) c.1283A>G (p.Glu428Gly) c.1379A>G (p.Glu460Gly) c.1325A>G (p.Glu442Gly) c.1286A>G (p.Glu429Gly) | |
18 | g.33738807A>T | CA402175240 | ASXL3 | c.1406A>T (p.Glu469Val) c.1403A>T (p.Glu468Val) c.*527A>T (n.*527A>T) c.*1062A>T (n.*1062A>T) c.1615A>T (n.1615A>T) c.1235A>T (p.Glu412Val) c.1283A>T (p.Glu428Val) c.1379A>T (p.Glu460Val) c.1325A>T (p.Glu442Val) c.1286A>T (p.Glu429Val) | |
18 | g.33738808A>C | CA402175241 | ASXL3 | c.1407A>C (p.Glu469Asp) c.1404A>C (p.Glu468Asp) c.*528A>C (n.*528A>C) c.*1063A>C (n.*1063A>C) c.1616A>C (n.1616A>C) c.1236A>C (p.Glu412Asp) c.1284A>C (p.Glu428Asp) c.1380A>C (p.Glu460Asp) c.1326A>C (p.Glu442Asp) c.1287A>C (p.Glu429Asp) | |
18 | g.33738808A>G | CA503768195 | ASXL3 | c.1407A>G (p.Glu469=) c.1404A>G (p.Glu468=) c.*528A>G (n.*528A>G) c.*1063A>G (n.*1063A>G) c.1616A>G (n.1616A>G) c.1236A>G (p.Glu412=) c.1284A>G (p.Glu428=) c.1380A>G (p.Glu460=) c.1326A>G (p.Glu442=) c.1287A>G (p.Glu429=) | |
18 | g.33738808A>T | CA402175242 | ASXL3 | c.1407A>T (p.Glu469Asp) c.1404A>T (p.Glu468Asp) c.*528A>T (n.*528A>T) c.*1063A>T (n.*1063A>T) c.1616A>T (n.1616A>T) c.1236A>T (p.Glu412Asp) c.1284A>T (p.Glu428Asp) c.1380A>T (p.Glu460Asp) c.1326A>T (p.Glu442Asp) c.1287A>T (p.Glu429Asp) | |
18 | g.33738809A>C | CA402175243 | ASXL3 | c.1408A>C (p.Asn470His) c.1405A>C (p.Asn469His) c.*529A>C (n.*529A>C) c.*1064A>C (n.*1064A>C) c.1617A>C (n.1617A>C) c.1237A>C (p.Asn413His) c.1285A>C (p.Asn429His) c.1381A>C (p.Asn461His) c.1327A>C (p.Asn443His) c.1288A>C (p.Asn430His) | |
18 | g.33738809A>G | CA402175244 | ASXL3 | c.1408A>G (p.Asn470Asp) c.1405A>G (p.Asn469Asp) c.*529A>G (n.*529A>G) c.*1064A>G (n.*1064A>G) c.1617A>G (n.1617A>G) c.1237A>G (p.Asn413Asp) c.1285A>G (p.Asn429Asp) c.1381A>G (p.Asn461Asp) c.1327A>G (p.Asn443Asp) c.1288A>G (p.Asn430Asp) | |
18 | g.33738809A>T | CA402175245 | ASXL3 | c.1408A>T (p.Asn470Tyr) c.1405A>T (p.Asn469Tyr) c.*529A>T (n.*529A>T) c.*1064A>T (n.*1064A>T) c.1617A>T (n.1617A>T) c.1237A>T (p.Asn413Tyr) c.1285A>T (p.Asn429Tyr) c.1381A>T (p.Asn461Tyr) c.1327A>T (p.Asn443Tyr) c.1288A>T (p.Asn430Tyr) | |
18 | g.33738810_33738813dup | CA2695227378 | ASXL3 | c.1409_1412dup (p.His471GlnfsTer3) c.1406_1409dup (p.His470GlnfsTer3) c.*530_*533dup (n.*530_*533dup) c.*1065_*1068dup (n.*1065_*1068dup) c.1618_1621dup (n.1618_1621dup) c.1238_1241dup (p.His414GlnfsTer3) c.1286_1289dup (p.His430GlnfsTer3) c.1382_1385dup (p.His462GlnfsTer3) c.1328_1331dup (p.His444GlnfsTer3) c.1289_1292dup (p.His431GlnfsTer3) | |
18 | g.33738810A>C | CA402175247 | ASXL3 | c.1409A>C (p.Asn470Thr) c.1406A>C (p.Asn469Thr) c.*530A>C (n.*530A>C) c.*1065A>C (n.*1065A>C) c.1618A>C (n.1618A>C) c.1238A>C (p.Asn413Thr) c.1286A>C (p.Asn429Thr) c.1382A>C (p.Asn461Thr) c.1328A>C (p.Asn443Thr) c.1289A>C (p.Asn430Thr) | |
18 | g.33738810A>G | CA402175248 | ASXL3 | c.1409A>G (p.Asn470Ser) c.1406A>G (p.Asn469Ser) c.*530A>G (n.*530A>G) c.*1065A>G (n.*1065A>G) c.1618A>G (n.1618A>G) c.1238A>G (p.Asn413Ser) c.1286A>G (p.Asn429Ser) c.1382A>G (p.Asn461Ser) c.1328A>G (p.Asn443Ser) c.1289A>G (p.Asn430Ser) | |
18 | g.33738810A>T | CA402175246 | ASXL3 | c.1409A>T (p.Asn470Ile) c.1406A>T (p.Asn469Ile) c.*530A>T (n.*530A>T) c.*1065A>T (n.*1065A>T) c.1618A>T (n.1618A>T) c.1238A>T (p.Asn413Ile) c.1286A>T (p.Asn429Ile) c.1382A>T (p.Asn461Ile) c.1328A>T (p.Asn443Ile) c.1289A>T (p.Asn430Ile) | |
18 | g.33738811T>A | CA402175250 | ASXL3 | c.1410T>A (p.Asn470Lys) c.1407T>A (p.Asn469Lys) c.*531T>A (n.*531T>A) c.*1066T>A (n.*1066T>A) c.1619T>A (n.1619T>A) c.1239T>A (p.Asn413Lys) c.1287T>A (p.Asn429Lys) c.1383T>A (p.Asn461Lys) c.1329T>A (p.Asn443Lys) c.1290T>A (p.Asn430Lys) | |
18 | g.33738811T>C | CA503768197 | ASXL3 | c.1410T>C (p.Asn470=) c.1407T>C (p.Asn469=) c.*531T>C (n.*531T>C) c.*1066T>C (n.*1066T>C) c.1619T>C (n.1619T>C) c.1239T>C (p.Asn413=) c.1287T>C (p.Asn429=) c.1383T>C (p.Asn461=) c.1329T>C (p.Asn443=) c.1290T>C (p.Asn430=) | |
18 | g.33738811T>G | CA402175249 | ASXL3 | c.1410T>G (p.Asn470Lys) c.1407T>G (p.Asn469Lys) c.*531T>G (n.*531T>G) c.*1066T>G (n.*1066T>G) c.1619T>G (n.1619T>G) c.1239T>G (p.Asn413Lys) c.1287T>G (p.Asn429Lys) c.1383T>G (p.Asn461Lys) c.1329T>G (p.Asn443Lys) c.1290T>G (p.Asn430Lys) | |
18 | g.33738812C>A | CA402175252 | ASXL3 | c.1411C>A (p.His471Asn) c.1408C>A (p.His470Asn) c.*532C>A (n.*532C>A) c.*1067C>A (n.*1067C>A) c.1620C>A (n.1620C>A) c.1240C>A (p.His414Asn) c.1288C>A (p.His430Asn) c.1384C>A (p.His462Asn) c.1330C>A (p.His444Asn) c.1291C>A (p.His431Asn) | |
18 | g.33738812C= | CA2294855690 | ASXL3 | c.1411C= (p.His471=) c.1408C= (p.His470=) c.*532C= (n.*532C=) c.*1067C= (n.*1067C=) c.1620C= (n.1620C=) c.1240C= (p.His414=) c.1288C= (p.His430=) c.1384C= (p.His462=) c.1330C= (p.His444=) c.1291C= (p.His431=) | |
18 | g.33738812C>G | CA402175251 | ASXL3 | c.1411C>G (p.His471Asp) c.1408C>G (p.His470Asp) c.*532C>G (n.*532C>G) c.*1067C>G (n.*1067C>G) c.1620C>G (n.1620C>G) c.1240C>G (p.His414Asp) c.1288C>G (p.His430Asp) c.1384C>G (p.His462Asp) c.1330C>G (p.His444Asp) c.1291C>G (p.His431Asp) | |
18 | g.33738812C>T | CA297786683 | ASXL3 | c.1411C>T (p.His471Tyr) c.1408C>T (p.His470Tyr) c.*532C>T (n.*532C>T) c.*1067C>T (n.*1067C>T) c.1620C>T (n.1620C>T) c.1240C>T (p.His414Tyr) c.1288C>T (p.His430Tyr) c.1384C>T (p.His462Tyr) c.1330C>T (p.His444Tyr) c.1291C>T (p.His431Tyr) | dbSNP COSMIC COSMIC |
18 | g.33738813A= | CA2294855691 | ASXL3 | c.1412A= (p.His471=) c.1409A= (p.His470=) c.*533A= (n.*533A=) c.*1068A= (n.*1068A=) c.1621A= (n.1621A=) c.1241A= (p.His414=) c.1289A= (p.His430=) c.1385A= (p.His462=) c.1331A= (p.His444=) c.1292A= (p.His431=) | |
18 | g.33738813A>C | CA8933749 | ASXL3 | c.1412A>C (p.His471Pro) c.1409A>C (p.His470Pro) c.*533A>C (n.*533A>C) c.*1068A>C (n.*1068A>C) c.1621A>C (n.1621A>C) c.1241A>C (p.His414Pro) c.1289A>C (p.His430Pro) c.1385A>C (p.His462Pro) c.1331A>C (p.His444Pro) c.1292A>C (p.His431Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738813A>G | CA402175254 | ASXL3 | c.1412A>G (p.His471Arg) c.1409A>G (p.His470Arg) c.*533A>G (n.*533A>G) c.*1068A>G (n.*1068A>G) c.1621A>G (n.1621A>G) c.1241A>G (p.His414Arg) c.1289A>G (p.His430Arg) c.1385A>G (p.His462Arg) c.1331A>G (p.His444Arg) c.1292A>G (p.His431Arg) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33738813A>T | CA402175253 | ASXL3 | c.1412A>T (p.His471Leu) c.1409A>T (p.His470Leu) c.*533A>T (n.*533A>T) c.*1068A>T (n.*1068A>T) c.1621A>T (n.1621A>T) c.1241A>T (p.His414Leu) c.1289A>T (p.His430Leu) c.1385A>T (p.His462Leu) c.1331A>T (p.His444Leu) c.1292A>T (p.His431Leu) | gnomAD v4 |
18 | g.33738814T>A | CA402175255 | ASXL3 | c.1413T>A (p.His471Gln) c.1410T>A (p.His470Gln) c.*534T>A (n.*534T>A) c.*1069T>A (n.*1069T>A) c.1622T>A (n.1622T>A) c.1242T>A (p.His414Gln) c.1290T>A (p.His430Gln) c.1386T>A (p.His462Gln) c.1332T>A (p.His444Gln) c.1293T>A (p.His431Gln) | |
18 | g.33738814T>C | CA503768203 | ASXL3 | c.1413T>C (p.His471=) c.1410T>C (p.His470=) c.*534T>C (n.*534T>C) c.*1069T>C (n.*1069T>C) c.1622T>C (n.1622T>C) c.1242T>C (p.His414=) c.1290T>C (p.His430=) c.1386T>C (p.His462=) c.1332T>C (p.His444=) c.1293T>C (p.His431=) | |
18 | g.33738814T>G | CA402175256 | ASXL3 | c.1413T>G (p.His471Gln) c.1410T>G (p.His470Gln) c.*534T>G (n.*534T>G) c.*1069T>G (n.*1069T>G) c.1622T>G (n.1622T>G) c.1242T>G (p.His414Gln) c.1290T>G (p.His430Gln) c.1386T>G (p.His462Gln) c.1332T>G (p.His444Gln) c.1293T>G (p.His431Gln) | |
18 | g.33738815A>C | CA402175257 | ASXL3 | c.1414A>C (p.Lys472Gln) c.1411A>C (p.Lys471Gln) c.*535A>C (n.*535A>C) c.*1070A>C (n.*1070A>C) c.1623A>C (n.1623A>C) c.1243A>C (p.Lys415Gln) c.1291A>C (p.Lys431Gln) c.1387A>C (p.Lys463Gln) c.1333A>C (p.Lys445Gln) c.1294A>C (p.Lys432Gln) | |
18 | g.33738815A>G | CA402175258 | ASXL3 | c.1414A>G (p.Lys472Glu) c.1411A>G (p.Lys471Glu) c.*535A>G (n.*535A>G) c.*1070A>G (n.*1070A>G) c.1623A>G (n.1623A>G) c.1243A>G (p.Lys415Glu) c.1291A>G (p.Lys431Glu) c.1387A>G (p.Lys463Glu) c.1333A>G (p.Lys445Glu) c.1294A>G (p.Lys432Glu) | |
18 | g.33738815A>T | CA402175259 | ASXL3 | c.1414A>T (p.Lys472Ter) c.1411A>T (p.Lys471Ter) c.*535A>T (n.*535A>T) c.*1070A>T (n.*1070A>T) c.1623A>T (n.1623A>T) c.1243A>T (p.Lys415Ter) c.1291A>T (p.Lys431Ter) c.1387A>T (p.Lys463Ter) c.1333A>T (p.Lys445Ter) c.1294A>T (p.Lys432Ter) | |
18 | g.33738816A>C | CA402175260 | ASXL3 | c.1415A>C (p.Lys472Thr) c.1412A>C (p.Lys471Thr) c.*536A>C (n.*536A>C) c.*1071A>C (n.*1071A>C) c.1624A>C (n.1624A>C) c.1244A>C (p.Lys415Thr) c.1292A>C (p.Lys431Thr) c.1388A>C (p.Lys463Thr) c.1334A>C (p.Lys445Thr) c.1295A>C (p.Lys432Thr) | |
18 | g.33738816A>G | CA402175261 | ASXL3 | c.1415A>G (p.Lys472Arg) c.1412A>G (p.Lys471Arg) c.*536A>G (n.*536A>G) c.*1071A>G (n.*1071A>G) c.1624A>G (n.1624A>G) c.1244A>G (p.Lys415Arg) c.1292A>G (p.Lys431Arg) c.1388A>G (p.Lys463Arg) c.1334A>G (p.Lys445Arg) c.1295A>G (p.Lys432Arg) | gnomAD v4 |
18 | g.33738816A>T | CA402175262 | ASXL3 | c.1415A>T (p.Lys472Met) c.1412A>T (p.Lys471Met) c.*536A>T (n.*536A>T) c.*1071A>T (n.*1071A>T) c.1624A>T (n.1624A>T) c.1244A>T (p.Lys415Met) c.1292A>T (p.Lys431Met) c.1388A>T (p.Lys463Met) c.1334A>T (p.Lys445Met) c.1295A>T (p.Lys432Met) | |
18 | g.33738817G>A | CA503768206 | ASXL3 | c.1416G>A (p.Lys472=) c.1413G>A (p.Lys471=) c.*537G>A (n.*537G>A) c.*1072G>A (n.*1072G>A) c.1625G>A (n.1625G>A) c.1245G>A (p.Lys415=) c.1293G>A (p.Lys431=) c.1389G>A (p.Lys463=) c.1335G>A (p.Lys445=) c.1296G>A (p.Lys432=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33738817G>C | CA402175263 | ASXL3 | c.1416G>C (p.Lys472Asn) c.1413G>C (p.Lys471Asn) c.*537G>C (n.*537G>C) c.*1072G>C (n.*1072G>C) c.1625G>C (n.1625G>C) c.1245G>C (p.Lys415Asn) c.1293G>C (p.Lys431Asn) c.1389G>C (p.Lys463Asn) c.1335G>C (p.Lys445Asn) c.1296G>C (p.Lys432Asn) | |
18 | g.33738817G= | CA2294855692 | ASXL3 | c.1416G= (p.Lys472=) c.1413G= (p.Lys471=) c.*537G= (n.*537G=) c.*1072G= (n.*1072G=) c.1625G= (n.1625G=) c.1245G= (p.Lys415=) c.1293G= (p.Lys431=) c.1389G= (p.Lys463=) c.1335G= (p.Lys445=) c.1296G= (p.Lys432=) | |
18 | g.33738817G>T | CA402175264 | ASXL3 | c.1416G>T (p.Lys472Asn) c.1413G>T (p.Lys471Asn) c.*537G>T (n.*537G>T) c.*1072G>T (n.*1072G>T) c.1625G>T (n.1625G>T) c.1245G>T (p.Lys415Asn) c.1293G>T (p.Lys431Asn) c.1389G>T (p.Lys463Asn) c.1335G>T (p.Lys445Asn) c.1296G>T (p.Lys432Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
18 | g.33738818A= | CA2294855693 | ASXL3 | c.1417A= (p.Thr473=) c.1414A= (p.Thr472=) c.*538A= (n.*538A=) c.*1073A= (n.*1073A=) c.1626A= (n.1626A=) c.1246A= (p.Thr416=) c.1294A= (p.Thr432=) c.1390A= (p.Thr464=) c.1336A= (p.Thr446=) c.1297A= (p.Thr433=) | |
18 | g.33738818A>C | CA402175267 | ASXL3 | c.1417A>C (p.Thr473Pro) c.1414A>C (p.Thr472Pro) c.*538A>C (n.*538A>C) c.*1073A>C (n.*1073A>C) c.1626A>C (n.1626A>C) c.1246A>C (p.Thr416Pro) c.1294A>C (p.Thr432Pro) c.1390A>C (p.Thr464Pro) c.1336A>C (p.Thr446Pro) c.1297A>C (p.Thr433Pro) | dbSNP |
18 | g.33738818A>G | CA402175265 | ASXL3 | c.1417A>G (p.Thr473Ala) c.1414A>G (p.Thr472Ala) c.*538A>G (n.*538A>G) c.*1073A>G (n.*1073A>G) c.1626A>G (n.1626A>G) c.1246A>G (p.Thr416Ala) c.1294A>G (p.Thr432Ala) c.1390A>G (p.Thr464Ala) c.1336A>G (p.Thr446Ala) c.1297A>G (p.Thr433Ala) | |
18 | g.33738818A>T | CA402175266 | ASXL3 | c.1417A>T (p.Thr473Ser) c.1414A>T (p.Thr472Ser) c.*538A>T (n.*538A>T) c.*1073A>T (n.*1073A>T) c.1626A>T (n.1626A>T) c.1246A>T (p.Thr416Ser) c.1294A>T (p.Thr432Ser) c.1390A>T (p.Thr464Ser) c.1336A>T (p.Thr446Ser) c.1297A>T (p.Thr433Ser) | |
18 | g.33738819C>A | CA402175268 | ASXL3 | c.1418C>A (p.Thr473Lys) c.1415C>A (p.Thr472Lys) c.*539C>A (n.*539C>A) c.*1074C>A (n.*1074C>A) c.1627C>A (n.1627C>A) c.1247C>A (p.Thr416Lys) c.1295C>A (p.Thr432Lys) c.1391C>A (p.Thr464Lys) c.1337C>A (p.Thr446Lys) c.1298C>A (p.Thr433Lys) | |
18 | g.33738819C>G | CA402175269 | ASXL3 | c.1418C>G (p.Thr473Arg) c.1415C>G (p.Thr472Arg) c.*539C>G (n.*539C>G) c.*1074C>G (n.*1074C>G) c.1627C>G (n.1627C>G) c.1247C>G (p.Thr416Arg) c.1295C>G (p.Thr432Arg) c.1391C>G (p.Thr464Arg) c.1337C>G (p.Thr446Arg) c.1298C>G (p.Thr433Arg) | |
18 | g.33738819C>T | CA402175270 | ASXL3 | c.1418C>T (p.Thr473Ile) c.1415C>T (p.Thr472Ile) c.*539C>T (n.*539C>T) c.*1074C>T (n.*1074C>T) c.1627C>T (n.1627C>T) c.1247C>T (p.Thr416Ile) c.1295C>T (p.Thr432Ile) c.1391C>T (p.Thr464Ile) c.1337C>T (p.Thr446Ile) c.1298C>T (p.Thr433Ile) | |
18 | g.33738820A>C | CA503768208 | ASXL3 | c.1419A>C (p.Thr473=) c.1416A>C (p.Thr472=) c.*540A>C (n.*540A>C) c.*1075A>C (n.*1075A>C) c.1628A>C (n.1628A>C) c.1248A>C (p.Thr416=) c.1296A>C (p.Thr432=) c.1392A>C (p.Thr464=) c.1338A>C (p.Thr446=) c.1299A>C (p.Thr433=) | |
18 | g.33738820A>G | CA503768209 | ASXL3 | c.1419A>G (p.Thr473=) c.1416A>G (p.Thr472=) c.*540A>G (n.*540A>G) c.*1075A>G (n.*1075A>G) c.1628A>G (n.1628A>G) c.1248A>G (p.Thr416=) c.1296A>G (p.Thr432=) c.1392A>G (p.Thr464=) c.1338A>G (p.Thr446=) c.1299A>G (p.Thr433=) | |
18 | g.33738820A>T | CA503768211 | ASXL3 | c.1419A>T (p.Thr473=) c.1416A>T (p.Thr472=) c.*540A>T (n.*540A>T) c.*1075A>T (n.*1075A>T) c.1628A>T (n.1628A>T) c.1248A>T (p.Thr416=) c.1296A>T (p.Thr432=) c.1392A>T (p.Thr464=) c.1338A>T (p.Thr446=) c.1299A>T (p.Thr433=) | |
18 | g.33738821A>C | CA402175271 | ASXL3 | c.1420A>C (p.Ile474Leu) c.1417A>C (p.Ile473Leu) c.*541A>C (n.*541A>C) c.*1076A>C (n.*1076A>C) c.1629A>C (n.1629A>C) c.1249A>C (p.Ile417Leu) c.1297A>C (p.Ile433Leu) c.1393A>C (p.Ile465Leu) c.1339A>C (p.Ile447Leu) c.1300A>C (p.Ile434Leu) | |
18 | g.33738821A>G | CA402175272 | ASXL3 | c.1420A>G (p.Ile474Val) c.1417A>G (p.Ile473Val) c.*541A>G (n.*541A>G) c.*1076A>G (n.*1076A>G) c.1629A>G (n.1629A>G) c.1249A>G (p.Ile417Val) c.1297A>G (p.Ile433Val) c.1393A>G (p.Ile465Val) c.1339A>G (p.Ile447Val) c.1300A>G (p.Ile434Val) | |
18 | g.33738821A>T | CA402175273 | ASXL3 | c.1420A>T (p.Ile474Leu) c.1417A>T (p.Ile473Leu) c.*541A>T (n.*541A>T) c.*1076A>T (n.*1076A>T) c.1629A>T (n.1629A>T) c.1249A>T (p.Ile417Leu) c.1297A>T (p.Ile433Leu) c.1393A>T (p.Ile465Leu) c.1339A>T (p.Ile447Leu) c.1300A>T (p.Ile434Leu) | |
18 | g.33738822T>A | CA402175274 | ASXL3 | c.1421T>A (p.Ile474Lys) c.1418T>A (p.Ile473Lys) c.*542T>A (n.*542T>A) c.*1077T>A (n.*1077T>A) c.1630T>A (n.1630T>A) c.1250T>A (p.Ile417Lys) c.1298T>A (p.Ile433Lys) c.1394T>A (p.Ile465Lys) c.1340T>A (p.Ile447Lys) c.1301T>A (p.Ile434Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.33738822T>C | CA8933750 | ASXL3 | c.1421T>C (p.Ile474Thr) c.1418T>C (p.Ile473Thr) c.*542T>C (n.*542T>C) c.*1077T>C (n.*1077T>C) c.1630T>C (n.1630T>C) c.1250T>C (p.Ile417Thr) c.1298T>C (p.Ile433Thr) c.1394T>C (p.Ile465Thr) c.1340T>C (p.Ile447Thr) c.1301T>C (p.Ile434Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738822T>G | CA8933751 | ASXL3 | c.1421T>G (p.Ile474Arg) c.1418T>G (p.Ile473Arg) c.*542T>G (n.*542T>G) c.*1077T>G (n.*1077T>G) c.1630T>G (n.1630T>G) c.1250T>G (p.Ile417Arg) c.1298T>G (p.Ile433Arg) c.1394T>G (p.Ile465Arg) c.1340T>G (p.Ile447Arg) c.1301T>G (p.Ile434Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33738822T= | CA2294855694 | ASXL3 | c.1421T= (p.Ile474=) c.1418T= (p.Ile473=) c.*542T= (n.*542T=) c.*1077T= (n.*1077T=) c.1630T= (n.1630T=) c.1250T= (p.Ile417=) c.1298T= (p.Ile433=) c.1394T= (p.Ile465=) c.1340T= (p.Ile447=) c.1301T= (p.Ile434=) | |
18 | g.33738823A= | CA2294855695 | ASXL3 | c.1422A= (p.Ile474=) c.1419A= (p.Ile473=) c.*543A= (n.*543A=) c.*1078A= (n.*1078A=) c.1631A= (n.1631A=) c.1251A= (p.Ile417=) c.1299A= (p.Ile433=) c.1395A= (p.Ile465=) c.1341A= (p.Ile447=) c.1302A= (p.Ile434=) | |
18 | g.33738823A>C | CA503768212 | ASXL3 | c.1422A>C (p.Ile474=) c.1419A>C (p.Ile473=) c.*543A>C (n.*543A>C) c.*1078A>C (n.*1078A>C) c.1631A>C (n.1631A>C) c.1251A>C (p.Ile417=) c.1299A>C (p.Ile433=) c.1395A>C (p.Ile465=) c.1341A>C (p.Ile447=) c.1302A>C (p.Ile434=) | |
18 | g.33738823A>G | CA402175275 | ASXL3 | c.1422A>G (p.Ile474Met) c.1419A>G (p.Ile473Met) c.*543A>G (n.*543A>G) c.*1078A>G (n.*1078A>G) c.1631A>G (n.1631A>G) c.1251A>G (p.Ile417Met) c.1299A>G (p.Ile433Met) c.1395A>G (p.Ile465Met) c.1341A>G (p.Ile447Met) c.1302A>G (p.Ile434Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.33738823A>T | CA503768213 | ASXL3 | c.1422A>T (p.Ile474=) c.1419A>T (p.Ile473=) c.*543A>T (n.*543A>T) c.*1078A>T (n.*1078A>T) c.1631A>T (n.1631A>T) c.1251A>T (p.Ile417=) c.1299A>T (p.Ile433=) c.1395A>T (p.Ile465=) c.1341A>T (p.Ile447=) c.1302A>T (p.Ile434=) | |
18 | g.33738823dup | CA2580095655 | ASXL3 | c.1422dup (p.Pro475ThrfsTer2) c.1419dup (p.Pro474ThrfsTer2) c.*543dup (n.*543dup) c.*1078dup (n.*1078dup) c.1631dup (n.1631dup) c.1251dup (p.Pro418ThrfsTer2) c.1299dup (p.Pro434ThrfsTer2) c.1395dup (p.Pro466ThrfsTer2) c.1341dup (p.Pro448ThrfsTer2) c.1302dup (p.Pro435ThrfsTer2) | ClinVar |
18 | g.33738824C>A | CA402175277 | ASXL3 | c.1423C>A (p.Pro475Thr) c.1420C>A (p.Pro474Thr) c.*544C>A (n.*544C>A) c.*1079C>A (n.*1079C>A) c.1632C>A (n.1632C>A) c.1252C>A (p.Pro418Thr) c.1300C>A (p.Pro434Thr) c.1396C>A (p.Pro466Thr) c.1342C>A (p.Pro448Thr) c.1303C>A (p.Pro435Thr) | gnomAD v4 |
18 | g.33738824C= | CA2294855696 | ASXL3 | c.1423C= (p.Pro475=) c.1420C= (p.Pro474=) c.*544C= (n.*544C=) c.*1079C= (n.*1079C=) c.1632C= (n.1632C=) c.1252C= (p.Pro418=) c.1300C= (p.Pro434=) c.1396C= (p.Pro466=) c.1342C= (p.Pro448=) c.1303C= (p.Pro435=) | |
18 | g.33738824C>G | CA402175278 | ASXL3 | c.1423C>G (p.Pro475Ala) c.1420C>G (p.Pro474Ala) c.*544C>G (n.*544C>G) c.*1079C>G (n.*1079C>G) c.1632C>G (n.1632C>G) c.1252C>G (p.Pro418Ala) c.1300C>G (p.Pro434Ala) c.1396C>G (p.Pro466Ala) c.1342C>G (p.Pro448Ala) c.1303C>G (p.Pro435Ala) | gnomAD v4 |
18 | g.33738824C>T | CA402175276 | ASXL3 | c.1423C>T (p.Pro475Ser) c.1420C>T (p.Pro474Ser) c.*544C>T (n.*544C>T) c.*1079C>T (n.*1079C>T) c.1632C>T (n.1632C>T) c.1252C>T (p.Pro418Ser) c.1300C>T (p.Pro434Ser) c.1396C>T (p.Pro466Ser) c.1342C>T (p.Pro448Ser) c.1303C>T (p.Pro435Ser) | dbSNP |
18 | g.33738825C>A | CA402175279 | ASXL3 | c.1424C>A (p.Pro475His) c.1421C>A (p.Pro474His) c.*545C>A (n.*545C>A) c.*1080C>A (n.*1080C>A) c.1633C>A (n.1633C>A) c.1253C>A (p.Pro418His) c.1301C>A (p.Pro434His) c.1397C>A (p.Pro466His) c.1343C>A (p.Pro448His) c.1304C>A (p.Pro435His) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33738825C= | CA2294855697 | ASXL3 | c.1424C= (p.Pro475=) c.1421C= (p.Pro474=) c.*545C= (n.*545C=) c.*1080C= (n.*1080C=) c.1633C= (n.1633C=) c.1253C= (p.Pro418=) c.1301C= (p.Pro434=) c.1397C= (p.Pro466=) c.1343C= (p.Pro448=) c.1304C= (p.Pro435=) | |
18 | g.33738825C>G | CA402175280 | ASXL3 | c.1424C>G (p.Pro475Arg) c.1421C>G (p.Pro474Arg) c.*545C>G (n.*545C>G) c.*1080C>G (n.*1080C>G) c.1633C>G (n.1633C>G) c.1253C>G (p.Pro418Arg) c.1301C>G (p.Pro434Arg) c.1397C>G (p.Pro466Arg) c.1343C>G (p.Pro448Arg) c.1304C>G (p.Pro435Arg) | |
18 | g.33738825C>T | CA402175281 | ASXL3 | c.1424C>T (p.Pro475Leu) c.1421C>T (p.Pro474Leu) c.*545C>T (n.*545C>T) c.*1080C>T (n.*1080C>T) c.1633C>T (n.1633C>T) c.1253C>T (p.Pro418Leu) c.1301C>T (p.Pro434Leu) c.1397C>T (p.Pro466Leu) c.1343C>T (p.Pro448Leu) c.1304C>T (p.Pro435Leu) | |
18 | g.33738826T>A | CA503768214 | ASXL3 | c.1425T>A (p.Pro475=) c.1422T>A (p.Pro474=) c.*546T>A (n.*546T>A) c.*1081T>A (n.*1081T>A) c.1634T>A (n.1634T>A) c.1254T>A (p.Pro418=) c.1302T>A (p.Pro434=) c.1398T>A (p.Pro466=) c.1344T>A (p.Pro448=) c.1305T>A (p.Pro435=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.33738826T>C | CA503768215 | ASXL3 | c.1425T>C (p.Pro475=) c.1422T>C (p.Pro474=) c.*546T>C (n.*546T>C) c.*1081T>C (n.*1081T>C) c.1634T>C (n.1634T>C) c.1254T>C (p.Pro418=) c.1302T>C (p.Pro434=) c.1398T>C (p.Pro466=) c.1344T>C (p.Pro448=) c.1305T>C (p.Pro435=) | |
18 | g.33738826T>G | CA503768216 | ASXL3 | c.1425T>G (p.Pro475=) c.1422T>G (p.Pro474=) c.*546T>G (n.*546T>G) c.*1081T>G (n.*1081T>G) c.1634T>G (n.1634T>G) c.1254T>G (p.Pro418=) c.1302T>G (p.Pro434=) c.1398T>G (p.Pro466=) c.1344T>G (p.Pro448=) c.1305T>G (p.Pro435=) | |
18 | g.33738826T= | CA2294855698 | ASXL3 | c.1425T= (p.Pro475=) c.1422T= (p.Pro474=) c.*546T= (n.*546T=) c.*1081T= (n.*1081T=) c.1634T= (n.1634T=) c.1254T= (p.Pro418=) c.1302T= (p.Pro434=) c.1398T= (p.Pro466=) c.1344T= (p.Pro448=) c.1305T= (p.Pro435=) | |
18 | g.33738826dup | CA658658734 | ASXL3 | c.1425dup (p.Glu476Ter) c.1422dup (p.Glu475Ter) c.*546dup (n.*546dup) c.*1081dup (n.*1081dup) c.1634dup (n.1634dup) c.1254dup (p.Glu419Ter) c.1302dup (p.Glu435Ter) c.1398dup (p.Glu467Ter) c.1344dup (p.Glu449Ter) c.1305dup (p.Glu436Ter) | ClinVar dbSNP |
18 | g.33738827G>A | CA402175282 | ASXL3 | c.1426G>A (p.Glu476Lys) c.1423G>A (p.Glu475Lys) c.*547G>A (n.*547G>A) c.*1082G>A (n.*1082G>A) c.1635G>A (n.1635G>A) c.1255G>A (p.Glu419Lys) c.1303G>A (p.Glu435Lys) c.1399G>A (p.Glu467Lys) c.1345G>A (p.Glu449Lys) c.1306G>A (p.Glu436Lys) | COSMIC COSMIC |
18 | g.33738827G>C | CA402175283 | ASXL3 | c.1426G>C (p.Glu476Gln) c.1423G>C (p.Glu475Gln) c.*547G>C (n.*547G>C) c.*1082G>C (n.*1082G>C) c.1635G>C (n.1635G>C) c.1255G>C (p.Glu419Gln) c.1303G>C (p.Glu435Gln) c.1399G>C (p.Glu467Gln) c.1345G>C (p.Glu449Gln) c.1306G>C (p.Glu436Gln) | |
18 | g.33738827G>T | CA402175284 | ASXL3 | c.1426G>T (p.Glu476Ter) c.1423G>T (p.Glu475Ter) c.*547G>T (n.*547G>T) c.*1082G>T (n.*1082G>T) c.1635G>T (n.1635G>T) c.1255G>T (p.Glu419Ter) c.1303G>T (p.Glu435Ter) c.1399G>T (p.Glu467Ter) c.1345G>T (p.Glu449Ter) c.1306G>T (p.Glu436Ter) | |
18 | g.33738827_33738828delinsGA | CA2294855699 | ASXL3 | c.1426_1427delinsGA (p.Glu476=) c.1423_1424delinsGA (p.Glu475=) c.*547_*548delinsGA (n.*547_*548delinsGA) c.*1082_*1083delinsGA (n.*1082_*1083delinsGA) c.1635_1636delinsGA (n.1635_1636delinsGA) c.1255_1256delinsGA (p.Glu419=) c.1303_1304delinsGA (p.Glu435=) c.1399_1400delinsGA (p.Glu467=) c.1345_1346delinsGA (p.Glu449=) c.1306_1307delinsGA (p.Glu436=) | |
18 | g.33738828A>C | CA402175285 | ASXL3 | c.1427A>C (p.Glu476Ala) c.1424A>C (p.Glu475Ala) c.*548A>C (n.*548A>C) c.*1083A>C (n.*1083A>C) c.1636A>C (n.1636A>C) c.1256A>C (p.Glu419Ala) c.1304A>C (p.Glu435Ala) c.1400A>C (p.Glu467Ala) c.1346A>C (p.Glu449Ala) c.1307A>C (p.Glu436Ala) | |
18 | g.33738828A>G | CA402175286 | ASXL3 | c.1427A>G (p.Glu476Gly) c.1424A>G (p.Glu475Gly) c.*548A>G (n.*548A>G) c.*1083A>G (n.*1083A>G) c.1636A>G (n.1636A>G) c.1256A>G (p.Glu419Gly) c.1304A>G (p.Glu435Gly) c.1400A>G (p.Glu467Gly) c.1346A>G (p.Glu449Gly) c.1307A>G (p.Glu436Gly) | |
18 | g.33738828A>T | CA402175287 | ASXL3 | c.1427A>T (p.Glu476Val) c.1424A>T (p.Glu475Val) c.*548A>T (n.*548A>T) c.*1083A>T (n.*1083A>T) c.1636A>T (n.1636A>T) c.1256A>T (p.Glu419Val) c.1304A>T (p.Glu435Val) c.1400A>T (p.Glu467Val) c.1346A>T (p.Glu449Val) c.1307A>T (p.Glu436Val) | |
18 | g.33738829del | CA989070432 | ASXL3 | c.1428del (p.Glu476AspfsTer9) c.1425del (p.Glu475AspfsTer9) c.*549del (n.*549del) c.*1084del (n.*1084del) c.1637del (n.1637del) c.1257del (p.Glu419AspfsTer9) c.1305del (p.Glu435AspfsTer9) c.1401del (p.Glu467AspfsTer9) c.1347del (p.Glu449AspfsTer9) c.1308del (p.Glu436AspfsTer9) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33738829A>C | CA402175288 | ASXL3 | c.1428A>C (p.Glu476Asp) c.1425A>C (p.Glu475Asp) c.*549A>C (n.*549A>C) c.*1084A>C (n.*1084A>C) c.1637A>C (n.1637A>C) c.1257A>C (p.Glu419Asp) c.1305A>C (p.Glu435Asp) c.1401A>C (p.Glu467Asp) c.1347A>C (p.Glu449Asp) c.1308A>C (p.Glu436Asp) | gnomAD v4 |
18 | g.33738829A>G | CA503768217 | ASXL3 | c.1428A>G (p.Glu476=) c.1425A>G (p.Glu475=) c.*549A>G (n.*549A>G) c.*1084A>G (n.*1084A>G) c.1637A>G (n.1637A>G) c.1257A>G (p.Glu419=) c.1305A>G (p.Glu435=) c.1401A>G (p.Glu467=) c.1347A>G (p.Glu449=) c.1308A>G (p.Glu436=) | gnomAD v4 |
18 | g.33738829A>T | CA402175289 | ASXL3 | c.1428A>T (p.Glu476Asp) c.1425A>T (p.Glu475Asp) c.*549A>T (n.*549A>T) c.*1084A>T (n.*1084A>T) c.1637A>T (n.1637A>T) c.1257A>T (p.Glu419Asp) c.1305A>T (p.Glu435Asp) c.1401A>T (p.Glu467Asp) c.1347A>T (p.Glu449Asp) c.1308A>T (p.Glu436Asp) | |
18 | g.33738830T>A | CA402175291 | ASXL3 | c.1429T>A (p.Phe477Ile) c.1426T>A (p.Phe476Ile) c.*550T>A (n.*550T>A) c.*1085T>A (n.*1085T>A) c.1638T>A (n.1638T>A) c.1258T>A (p.Phe420Ile) c.1306T>A (p.Phe436Ile) c.1402T>A (p.Phe468Ile) c.1348T>A (p.Phe450Ile) c.1309T>A (p.Phe437Ile) | COSMIC COSMIC |
18 | g.33738830T>C | CA402175292 | ASXL3 | c.1429T>C (p.Phe477Leu) c.1426T>C (p.Phe476Leu) c.*550T>C (n.*550T>C) c.*1085T>C (n.*1085T>C) c.1638T>C (n.1638T>C) c.1258T>C (p.Phe420Leu) c.1306T>C (p.Phe436Leu) c.1402T>C (p.Phe468Leu) c.1348T>C (p.Phe450Leu) c.1309T>C (p.Phe437Leu) | |
18 | g.33738830T>G | CA402175290 | ASXL3 | c.1429T>G (p.Phe477Val) c.1426T>G (p.Phe476Val) c.*550T>G (n.*550T>G) c.*1085T>G (n.*1085T>G) c.1638T>G (n.1638T>G) c.1258T>G (p.Phe420Val) c.1306T>G (p.Phe436Val) c.1402T>G (p.Phe468Val) c.1348T>G (p.Phe450Val) c.1309T>G (p.Phe437Val) | |
18 | g.33738833dup | CA2580612974 | ASXL3 | c.1432dup (p.Ser478PhefsTer2) c.1429dup (p.Ser477PhefsTer2) c.*553dup (n.*553dup) c.*1088dup (n.*1088dup) c.1641dup (n.1641dup) c.1261dup (p.Ser421PhefsTer2) c.1309dup (p.Ser437PhefsTer2) c.1405dup (p.Ser469PhefsTer2) c.1351dup (p.Ser451PhefsTer2) c.1312dup (p.Ser438PhefsTer2) | ClinVar |
18 | g.33738831T>A | CA402175293 | ASXL3 | c.1430T>A (p.Phe477Tyr) c.1427T>A (p.Phe476Tyr) c.*551T>A (n.*551T>A) c.*1086T>A (n.*1086T>A) c.1639T>A (n.1639T>A) c.1259T>A (p.Phe420Tyr) c.1307T>A (p.Phe436Tyr) c.1403T>A (p.Phe468Tyr) c.1349T>A (p.Phe450Tyr) c.1310T>A (p.Phe437Tyr) | |
18 | g.33738831T>C | CA402175294 | ASXL3 | c.1430T>C (p.Phe477Ser) c.1427T>C (p.Phe476Ser) c.*551T>C (n.*551T>C) c.*1086T>C (n.*1086T>C) c.1639T>C (n.1639T>C) c.1259T>C (p.Phe420Ser) c.1307T>C (p.Phe436Ser) c.1403T>C (p.Phe468Ser) c.1349T>C (p.Phe450Ser) c.1310T>C (p.Phe437Ser) | |
18 | g.33738831T>G | CA402175295 | ASXL3 | c.1430T>G (p.Phe477Cys) c.1427T>G (p.Phe476Cys) c.*551T>G (n.*551T>G) c.*1086T>G (n.*1086T>G) c.1639T>G (n.1639T>G) c.1259T>G (p.Phe420Cys) c.1307T>G (p.Phe436Cys) c.1403T>G (p.Phe468Cys) c.1349T>G (p.Phe450Cys) c.1310T>G (p.Phe437Cys) | |
18 | g.33738832T>A | CA402175296 | ASXL3 | c.1431T>A (p.Phe477Leu) c.1428T>A (p.Phe476Leu) c.*552T>A (n.*552T>A) c.*1087T>A (n.*1087T>A) c.1640T>A (n.1640T>A) c.1260T>A (p.Phe420Leu) c.1308T>A (p.Phe436Leu) c.1404T>A (p.Phe468Leu) c.1350T>A (p.Phe450Leu) c.1311T>A (p.Phe437Leu) | |
18 | g.33738832T>C | CA503768218 | ASXL3 | c.1431T>C (p.Phe477=) c.1428T>C (p.Phe476=) c.*552T>C (n.*552T>C) c.*1087T>C (n.*1087T>C) c.1640T>C (n.1640T>C) c.1260T>C (p.Phe420=) c.1308T>C (p.Phe436=) c.1404T>C (p.Phe468=) c.1350T>C (p.Phe450=) c.1311T>C (p.Phe437=) | |
18 | g.33738832T>G | CA402175297 | ASXL3 | c.1431T>G (p.Phe477Leu) c.1428T>G (p.Phe476Leu) c.*552T>G (n.*552T>G) c.*1087T>G (n.*1087T>G) c.1640T>G (n.1640T>G) c.1260T>G (p.Phe420Leu) c.1308T>G (p.Phe436Leu) c.1404T>G (p.Phe468Leu) c.1350T>G (p.Phe450Leu) c.1311T>G (p.Phe437Leu) | |
18 | g.33738833T>A | CA402175300 | ASXL3 | c.1432T>A (p.Ser478Thr) c.1429T>A (p.Ser477Thr) c.*553T>A (n.*553T>A) c.*1088T>A (n.*1088T>A) c.1641T>A (n.1641T>A) c.1261T>A (p.Ser421Thr) c.1309T>A (p.Ser437Thr) c.1405T>A (p.Ser469Thr) c.1351T>A (p.Ser451Thr) c.1312T>A (p.Ser438Thr) | gnomAD v4 |
18 | g.33738833T>C | CA402175298 | ASXL3 | c.1432T>C (p.Ser478Pro) c.1429T>C (p.Ser477Pro) c.*553T>C (n.*553T>C) c.*1088T>C (n.*1088T>C) c.1641T>C (n.1641T>C) c.1261T>C (p.Ser421Pro) c.1309T>C (p.Ser437Pro) c.1405T>C (p.Ser469Pro) c.1351T>C (p.Ser451Pro) c.1312T>C (p.Ser438Pro) | |
18 | g.33738833T>G | CA402175299 | ASXL3 | c.1432T>G (p.Ser478Ala) c.1429T>G (p.Ser477Ala) c.*553T>G (n.*553T>G) c.*1088T>G (n.*1088T>G) c.1641T>G (n.1641T>G) c.1261T>G (p.Ser421Ala) c.1309T>G (p.Ser437Ala) c.1405T>G (p.Ser469Ala) c.1351T>G (p.Ser451Ala) c.1312T>G (p.Ser438Ala) | |
18 | g.33738834C>A | CA402175301 | ASXL3 | c.1433C>A (p.Ser478Tyr) c.1430C>A (p.Ser477Tyr) c.*554C>A (n.*554C>A) c.*1089C>A (n.*1089C>A) c.1642C>A (n.1642C>A) c.1262C>A (p.Ser421Tyr) c.1310C>A (p.Ser437Tyr) c.1406C>A (p.Ser469Tyr) c.1352C>A (p.Ser451Tyr) c.1313C>A (p.Ser438Tyr) | |
18 | g.33738834C>G | CA402175302 | ASXL3 | c.1433C>G (p.Ser478Cys) c.1430C>G (p.Ser477Cys) c.*554C>G (n.*554C>G) c.*1089C>G (n.*1089C>G) c.1642C>G (n.1642C>G) c.1262C>G (p.Ser421Cys) c.1310C>G (p.Ser437Cys) c.1406C>G (p.Ser469Cys) c.1352C>G (p.Ser451Cys) c.1313C>G (p.Ser438Cys) | |
18 | g.33738834C>T | CA402175303 | ASXL3 | c.1433C>T (p.Ser478Phe) c.1430C>T (p.Ser477Phe) c.*554C>T (n.*554C>T) c.*1089C>T (n.*1089C>T) c.1642C>T (n.1642C>T) c.1262C>T (p.Ser421Phe) c.1310C>T (p.Ser437Phe) c.1406C>T (p.Ser469Phe) c.1352C>T (p.Ser451Phe) c.1313C>T (p.Ser438Phe) | COSMIC COSMIC |
18 | g.33738835T>A | CA503768219 | ASXL3 | c.1434T>A (p.Ser478=) c.1431T>A (p.Ser477=) c.*555T>A (n.*555T>A) c.*1090T>A (n.*1090T>A) c.1643T>A (n.1643T>A) c.1263T>A (p.Ser421=) c.1311T>A (p.Ser437=) c.1407T>A (p.Ser469=) c.1353T>A (p.Ser451=) c.1314T>A (p.Ser438=) | |
18 | g.33738835T>C | CA503768220 | ASXL3 | c.1434T>C (p.Ser478=) c.1431T>C (p.Ser477=) c.*555T>C (n.*555T>C) c.*1090T>C (n.*1090T>C) c.1643T>C (n.1643T>C) c.1263T>C (p.Ser421=) c.1311T>C (p.Ser437=) c.1407T>C (p.Ser469=) c.1353T>C (p.Ser451=) c.1314T>C (p.Ser438=) | gnomAD v4 |
18 | g.33738835T>G | CA503768221 | ASXL3 | c.1434T>G (p.Ser478=) c.1431T>G (p.Ser477=) c.*555T>G (n.*555T>G) c.*1090T>G (n.*1090T>G) c.1643T>G (n.1643T>G) c.1263T>G (p.Ser421=) c.1311T>G (p.Ser437=) c.1407T>G (p.Ser469=) c.1353T>G (p.Ser451=) c.1314T>G (p.Ser438=) | |
18 | g.33738836G>A | CA402175304 | ASXL3 | c.1435G>A (p.Glu479Lys) c.1432G>A (p.Glu478Lys) c.*556G>A (n.*556G>A) c.*1091G>A (n.*1091G>A) c.1644G>A (n.1644G>A) c.1264G>A (p.Glu422Lys) c.1312G>A (p.Glu438Lys) c.1408G>A (p.Glu470Lys) c.1354G>A (p.Glu452Lys) c.1315G>A (p.Glu439Lys) | COSMIC COSMIC |
18 | g.33738836G>C | CA402175305 | ASXL3 | c.1435G>C (p.Glu479Gln) c.1432G>C (p.Glu478Gln) c.*556G>C (n.*556G>C) c.*1091G>C (n.*1091G>C) c.1644G>C (n.1644G>C) c.1264G>C (p.Glu422Gln) c.1312G>C (p.Glu438Gln) c.1408G>C (p.Glu470Gln) c.1354G>C (p.Glu452Gln) c.1315G>C (p.Glu439Gln) | |
18 | g.33738836G>T | CA402175306 | ASXL3 | c.1435G>T (p.Glu479Ter) c.1432G>T (p.Glu478Ter) c.*556G>T (n.*556G>T) c.*1091G>T (n.*1091G>T) c.1644G>T (n.1644G>T) c.1264G>T (p.Glu422Ter) c.1312G>T (p.Glu438Ter) c.1408G>T (p.Glu470Ter) c.1354G>T (p.Glu452Ter) c.1315G>T (p.Glu439Ter) | |
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.33738837A= | CA2294855700 | ASXL3 | c.1436A= (p.Glu479=) c.1433A= (p.Glu478=) c.*557A= (n.*557A=) c.*1092A= (n.*1092A=) c.1645A= (n.1645A=) c.1265A= (p.Glu422=) c.1313A= (p.Glu438=) c.1409A= (p.Glu470=) c.1355A= (p.Glu452=) c.1316A= (p.Glu439=) | |
18 | g.33738837A>C | CA402175308 | ASXL3 | c.1436A>C (p.Glu479Ala) c.1433A>C (p.Glu478Ala) c.*557A>C (n.*557A>C) c.*1092A>C (n.*1092A>C) c.1645A>C (n.1645A>C) c.1265A>C (p.Glu422Ala) c.1313A>C (p.Glu438Ala) c.1409A>C (p.Glu470Ala) c.1355A>C (p.Glu452Ala) c.1316A>C (p.Glu439Ala) | |
18 | g.33738837A>G | CA402175309 | ASXL3 | c.1436A>G (p.Glu479Gly) c.1433A>G (p.Glu478Gly) c.*557A>G (n.*557A>G) c.*1092A>G (n.*1092A>G) c.1645A>G (n.1645A>G) c.1265A>G (p.Glu422Gly) c.1313A>G (p.Glu438Gly) c.1409A>G (p.Glu470Gly) c.1355A>G (p.Glu452Gly) c.1316A>G (p.Glu439Gly) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33738837A>T | CA402175307 | ASXL3 | c.1436A>T (p.Glu479Val) c.1433A>T (p.Glu478Val) c.*557A>T (n.*557A>T) c.*1092A>T (n.*1092A>T) c.1645A>T (n.1645A>T) c.1265A>T (p.Glu422Val) c.1313A>T (p.Glu438Val) c.1409A>T (p.Glu470Val) c.1355A>T (p.Glu452Val) c.1316A>T (p.Glu439Val) | |
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) |