Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.33743998A>C | CA402190281 | ASXL3 | c.4153A>C (p.Thr1385Pro) c.4150A>C (p.Thr1384Pro) c.4030A>C (p.Thr1344Pro) c.4126A>C (p.Thr1376Pro) c.4072A>C (p.Thr1358Pro) c.4033A>C (p.Thr1345Pro) c.3982A>C (p.Thr1328Pro) c.1114A>C (p.Thr372Pro) | |
18 | g.33743998A>G | CA402190282 | ASXL3 | c.4153A>G (p.Thr1385Ala) c.4150A>G (p.Thr1384Ala) c.4030A>G (p.Thr1344Ala) c.4126A>G (p.Thr1376Ala) c.4072A>G (p.Thr1358Ala) c.4033A>G (p.Thr1345Ala) c.3982A>G (p.Thr1328Ala) c.1114A>G (p.Thr372Ala) | |
18 | g.33743998A>T | CA402190283 | ASXL3 | c.4153A>T (p.Thr1385Ser) c.4150A>T (p.Thr1384Ser) c.4030A>T (p.Thr1344Ser) c.4126A>T (p.Thr1376Ser) c.4072A>T (p.Thr1358Ser) c.4033A>T (p.Thr1345Ser) c.3982A>T (p.Thr1328Ser) c.1114A>T (p.Thr372Ser) | |
18 | g.33743999C>A | CA402190286 | ASXL3 | c.4154C>A (p.Thr1385Asn) c.4151C>A (p.Thr1384Asn) c.4031C>A (p.Thr1344Asn) c.4127C>A (p.Thr1376Asn) c.4073C>A (p.Thr1358Asn) c.4034C>A (p.Thr1345Asn) c.3983C>A (p.Thr1328Asn) c.1115C>A (p.Thr372Asn) | |
18 | g.33743999C= | CA2294857934 | ASXL3 | c.4154C= (p.Thr1385=) c.4151C= (p.Thr1384=) c.4031C= (p.Thr1344=) c.4127C= (p.Thr1376=) c.4073C= (p.Thr1358=) c.4034C= (p.Thr1345=) c.3983C= (p.Thr1328=) c.1115C= (p.Thr372=) | |
18 | g.33743999C>G | CA402190285 | ASXL3 | c.4154C>G (p.Thr1385Ser) c.4151C>G (p.Thr1384Ser) c.4031C>G (p.Thr1344Ser) c.4127C>G (p.Thr1376Ser) c.4073C>G (p.Thr1358Ser) c.4034C>G (p.Thr1345Ser) c.3983C>G (p.Thr1328Ser) c.1115C>G (p.Thr372Ser) | dbSNP |
18 | g.33743999C>T | CA402190284 | ASXL3 | c.4154C>T (p.Thr1385Ile) c.4151C>T (p.Thr1384Ile) c.4031C>T (p.Thr1344Ile) c.4127C>T (p.Thr1376Ile) c.4073C>T (p.Thr1358Ile) c.4034C>T (p.Thr1345Ile) c.3983C>T (p.Thr1328Ile) c.1115C>T (p.Thr372Ile) | |
18 | g.33743999_33744001delinsCTG | CA2294857935 | ASXL3 | c.4154_4156delinsCTG (p.Thr1385=) c.4151_4153delinsCTG (p.Thr1384=) c.4031_4033delinsCTG (p.Thr1344=) c.4127_4129delinsCTG (p.Thr1376=) c.4073_4075delinsCTG (p.Thr1358=) c.4034_4036delinsCTG (p.Thr1345=) c.3983_3985delinsCTG (p.Thr1328=) c.1115_1117delinsCTG (p.Thr372=) | |
18 | g.33744000T>A | CA503770015 | ASXL3 | c.4155T>A (p.Thr1385=) c.4152T>A (p.Thr1384=) c.4032T>A (p.Thr1344=) c.4128T>A (p.Thr1376=) c.4074T>A (p.Thr1358=) c.4035T>A (p.Thr1345=) c.3984T>A (p.Thr1328=) c.1116T>A (p.Thr372=) | |
18 | g.33744000T>C | CA503770020 | ASXL3 | c.4155T>C (p.Thr1385=) c.4152T>C (p.Thr1384=) c.4032T>C (p.Thr1344=) c.4128T>C (p.Thr1376=) c.4074T>C (p.Thr1358=) c.4035T>C (p.Thr1345=) c.3984T>C (p.Thr1328=) c.1116T>C (p.Thr372=) | dbSNP |
18 | g.33744000T>G | CA503770017 | ASXL3 | c.4155T>G (p.Thr1385=) c.4152T>G (p.Thr1384=) c.4032T>G (p.Thr1344=) c.4128T>G (p.Thr1376=) c.4074T>G (p.Thr1358=) c.4035T>G (p.Thr1345=) c.3984T>G (p.Thr1328=) c.1116T>G (p.Thr372=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744000T= | CA2294857936 | ASXL3 | c.4155T= (p.Thr1385=) c.4152T= (p.Thr1384=) c.4032T= (p.Thr1344=) c.4128T= (p.Thr1376=) c.4074T= (p.Thr1358=) c.4035T= (p.Thr1345=) c.3984T= (p.Thr1328=) c.1116T= (p.Thr372=) | |
18 | g.33744001_33744002del | CA915952506 | ASXL3 | c.4156_4157del (p.Val1386IlefsTer14) c.4153_4154del (p.Val1385IlefsTer14) c.4033_4034del (p.Val1345IlefsTer14) c.4129_4130del (p.Val1377IlefsTer14) c.4075_4076del (p.Val1359IlefsTer14) c.4036_4037del (p.Val1346IlefsTer14) c.3985_3986del (p.Val1329IlefsTer14) c.1117_1118del (p.Val373IlefsTer14) | ClinVar dbSNP |
18 | g.33744001G>A | CA402190287 | ASXL3 | c.4156G>A (p.Val1386Ile) c.4153G>A (p.Val1385Ile) c.4033G>A (p.Val1345Ile) c.4129G>A (p.Val1377Ile) c.4075G>A (p.Val1359Ile) c.4036G>A (p.Val1346Ile) c.3985G>A (p.Val1329Ile) c.1117G>A (p.Val373Ile) | |
18 | g.33744001G>C | CA402190289 | ASXL3 | c.4156G>C (p.Val1386Leu) c.4153G>C (p.Val1385Leu) c.4033G>C (p.Val1345Leu) c.4129G>C (p.Val1377Leu) c.4075G>C (p.Val1359Leu) c.4036G>C (p.Val1346Leu) c.3985G>C (p.Val1329Leu) c.1117G>C (p.Val373Leu) | gnomAD v4 |
18 | g.33744001G>T | CA402190288 | ASXL3 | c.4156G>T (p.Val1386Leu) c.4153G>T (p.Val1385Leu) c.4033G>T (p.Val1345Leu) c.4129G>T (p.Val1377Leu) c.4075G>T (p.Val1359Leu) c.4036G>T (p.Val1346Leu) c.3985G>T (p.Val1329Leu) c.1117G>T (p.Val373Leu) | |
18 | g.33744002T>A | CA402190290 | ASXL3 | c.4157T>A (p.Val1386Glu) c.4154T>A (p.Val1385Glu) c.4034T>A (p.Val1345Glu) c.4130T>A (p.Val1377Glu) c.4076T>A (p.Val1359Glu) c.4037T>A (p.Val1346Glu) c.3986T>A (p.Val1329Glu) c.1118T>A (p.Val373Glu) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744002T>C | CA402190291 | ASXL3 | c.4157T>C (p.Val1386Ala) c.4154T>C (p.Val1385Ala) c.4034T>C (p.Val1345Ala) c.4130T>C (p.Val1377Ala) c.4076T>C (p.Val1359Ala) c.4037T>C (p.Val1346Ala) c.3986T>C (p.Val1329Ala) c.1118T>C (p.Val373Ala) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744002T>G | CA402190292 | ASXL3 | c.4157T>G (p.Val1386Gly) c.4154T>G (p.Val1385Gly) c.4034T>G (p.Val1345Gly) c.4130T>G (p.Val1377Gly) c.4076T>G (p.Val1359Gly) c.4037T>G (p.Val1346Gly) c.3986T>G (p.Val1329Gly) c.1118T>G (p.Val373Gly) | |
18 | g.33744002T= | CA2294857937 | ASXL3 | c.4157T= (p.Val1386=) c.4154T= (p.Val1385=) c.4034T= (p.Val1345=) c.4130T= (p.Val1377=) c.4076T= (p.Val1359=) c.4037T= (p.Val1346=) c.3986T= (p.Val1329=) c.1118T= (p.Val373=) | |
18 | g.33744003A= | CA2294857938 | ASXL3 | c.4158A= (p.Val1386=) c.4155A= (p.Val1385=) c.4035A= (p.Val1345=) c.4131A= (p.Val1377=) c.4077A= (p.Val1359=) c.4038A= (p.Val1346=) c.3987A= (p.Val1329=) c.1119A= (p.Val373=) | |
18 | g.33744003A>C | CA503770022 | ASXL3 | c.4158A>C (p.Val1386=) c.4155A>C (p.Val1385=) c.4035A>C (p.Val1345=) c.4131A>C (p.Val1377=) c.4077A>C (p.Val1359=) c.4038A>C (p.Val1346=) c.3987A>C (p.Val1329=) c.1119A>C (p.Val373=) | |
18 | g.33744003A>G | CA8934183 | ASXL3 | c.4158A>G (p.Val1386=) c.4155A>G (p.Val1385=) c.4035A>G (p.Val1345=) c.4131A>G (p.Val1377=) c.4077A>G (p.Val1359=) c.4038A>G (p.Val1346=) c.3987A>G (p.Val1329=) c.1119A>G (p.Val373=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744003A>T | CA503770024 | ASXL3 | c.4158A>T (p.Val1386=) c.4155A>T (p.Val1385=) c.4035A>T (p.Val1345=) c.4131A>T (p.Val1377=) c.4077A>T (p.Val1359=) c.4038A>T (p.Val1346=) c.3987A>T (p.Val1329=) c.1119A>T (p.Val373=) | |
18 | g.33744003_33744004delinsAT | CA2294857939 | ASXL3 | c.4158_4159delinsAT (p.Val1386=) c.4155_4156delinsAT (p.Val1385=) c.4035_4036delinsAT (p.Val1345=) c.4131_4132delinsAT (p.Val1377=) c.4077_4078delinsAT (p.Val1359=) c.4038_4039delinsAT (p.Val1346=) c.3987_3988delinsAT (p.Val1329=) c.1119_1120delinsAT (p.Val373=) | |
18 | g.33744004del | CA1139666034 | ASXL3 | c.4159del (p.Ser1387ProfsTer6) c.4156del (p.Ser1386ProfsTer6) c.4036del (p.Ser1346ProfsTer6) c.4132del (p.Ser1378ProfsTer6) c.4078del (p.Ser1360ProfsTer6) c.4039del (p.Ser1347ProfsTer6) c.3988del (p.Ser1330ProfsTer6) c.1120del (p.Ser374ProfsTer6) | ClinVar dbSNP |
18 | g.33744004T>A | CA402190293 | ASXL3 | c.4159T>A (p.Ser1387Thr) c.4156T>A (p.Ser1386Thr) c.4036T>A (p.Ser1346Thr) c.4132T>A (p.Ser1378Thr) c.4078T>A (p.Ser1360Thr) c.4039T>A (p.Ser1347Thr) c.3988T>A (p.Ser1330Thr) c.1120T>A (p.Ser374Thr) | |
18 | g.33744004T>C | CA402190294 | ASXL3 | c.4159T>C (p.Ser1387Pro) c.4156T>C (p.Ser1386Pro) c.4036T>C (p.Ser1346Pro) c.4132T>C (p.Ser1378Pro) c.4078T>C (p.Ser1360Pro) c.4039T>C (p.Ser1347Pro) c.3988T>C (p.Ser1330Pro) c.1120T>C (p.Ser374Pro) | |
18 | g.33744004T>G | CA402190295 | ASXL3 | c.4159T>G (p.Ser1387Ala) c.4156T>G (p.Ser1386Ala) c.4036T>G (p.Ser1346Ala) c.4132T>G (p.Ser1378Ala) c.4078T>G (p.Ser1360Ala) c.4039T>G (p.Ser1347Ala) c.3988T>G (p.Ser1330Ala) c.1120T>G (p.Ser374Ala) | |
18 | g.33744005C>A | CA402190296 | ASXL3 | c.4160C>A (p.Ser1387Tyr) c.4157C>A (p.Ser1386Tyr) c.4037C>A (p.Ser1346Tyr) c.4133C>A (p.Ser1378Tyr) c.4079C>A (p.Ser1360Tyr) c.4040C>A (p.Ser1347Tyr) c.3989C>A (p.Ser1330Tyr) c.1121C>A (p.Ser374Tyr) | |
18 | g.33744005C= | CA2294857940 | ASXL3 | c.4160C= (p.Ser1387=) c.4157C= (p.Ser1386=) c.4037C= (p.Ser1346=) c.4133C= (p.Ser1378=) c.4079C= (p.Ser1360=) c.4040C= (p.Ser1347=) c.3989C= (p.Ser1330=) c.1121C= (p.Ser374=) | |
18 | g.33744005C>G | CA8934184 | ASXL3 | c.4160C>G (p.Ser1387Cys) c.4157C>G (p.Ser1386Cys) c.4037C>G (p.Ser1346Cys) c.4133C>G (p.Ser1378Cys) c.4079C>G (p.Ser1360Cys) c.4040C>G (p.Ser1347Cys) c.3989C>G (p.Ser1330Cys) c.1121C>G (p.Ser374Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744005C>T | CA402190297 | ASXL3 | c.4160C>T (p.Ser1387Phe) c.4157C>T (p.Ser1386Phe) c.4037C>T (p.Ser1346Phe) c.4133C>T (p.Ser1378Phe) c.4079C>T (p.Ser1360Phe) c.4040C>T (p.Ser1347Phe) c.3989C>T (p.Ser1330Phe) c.1121C>T (p.Ser374Phe) | gnomAD v4 COSMIC |
18 | g.33744006C>A | CA503770036 | ASXL3 | c.4161C>A (p.Ser1387=) c.4158C>A (p.Ser1386=) c.4038C>A (p.Ser1346=) c.4134C>A (p.Ser1378=) c.4080C>A (p.Ser1360=) c.4041C>A (p.Ser1347=) c.3990C>A (p.Ser1330=) c.1122C>A (p.Ser374=) | |
18 | g.33744006C>G | CA503770038 | ASXL3 | c.4161C>G (p.Ser1387=) c.4158C>G (p.Ser1386=) c.4038C>G (p.Ser1346=) c.4134C>G (p.Ser1378=) c.4080C>G (p.Ser1360=) c.4041C>G (p.Ser1347=) c.3990C>G (p.Ser1330=) c.1122C>G (p.Ser374=) | |
18 | g.33744006C>T | CA503770040 | ASXL3 | c.4161C>T (p.Ser1387=) c.4158C>T (p.Ser1386=) c.4038C>T (p.Ser1346=) c.4134C>T (p.Ser1378=) c.4080C>T (p.Ser1360=) c.4041C>T (p.Ser1347=) c.3990C>T (p.Ser1330=) c.1122C>T (p.Ser374=) | gnomAD v4 |
18 | g.33744007A>C | CA402190300 | ASXL3 | c.4162A>C (p.Met1388Leu) c.4159A>C (p.Met1387Leu) c.4039A>C (p.Met1347Leu) c.4135A>C (p.Met1379Leu) c.4081A>C (p.Met1361Leu) c.4042A>C (p.Met1348Leu) c.3991A>C (p.Met1331Leu) c.1123A>C (p.Met375Leu) | gnomAD v4 |
18 | g.33744007A>G | CA402190299 | ASXL3 | c.4162A>G (p.Met1388Val) c.4159A>G (p.Met1387Val) c.4039A>G (p.Met1347Val) c.4135A>G (p.Met1379Val) c.4081A>G (p.Met1361Val) c.4042A>G (p.Met1348Val) c.3991A>G (p.Met1331Val) c.1123A>G (p.Met375Val) | gnomAD v4 |
18 | g.33744007A>T | CA402190298 | ASXL3 | c.4162A>T (p.Met1388Leu) c.4159A>T (p.Met1387Leu) c.4039A>T (p.Met1347Leu) c.4135A>T (p.Met1379Leu) c.4081A>T (p.Met1361Leu) c.4042A>T (p.Met1348Leu) c.3991A>T (p.Met1331Leu) c.1123A>T (p.Met375Leu) | |
18 | g.33744008T>A | CA402190301 | ASXL3 | c.4163T>A (p.Met1388Lys) c.4160T>A (p.Met1387Lys) c.4040T>A (p.Met1347Lys) c.4136T>A (p.Met1379Lys) c.4082T>A (p.Met1361Lys) c.4043T>A (p.Met1348Lys) c.3992T>A (p.Met1331Lys) c.1124T>A (p.Met375Lys) | |
18 | g.33744008T>C | CA8934185 | ASXL3 | c.4163T>C (p.Met1388Thr) c.4160T>C (p.Met1387Thr) c.4040T>C (p.Met1347Thr) c.4136T>C (p.Met1379Thr) c.4082T>C (p.Met1361Thr) c.4043T>C (p.Met1348Thr) c.3992T>C (p.Met1331Thr) c.1124T>C (p.Met375Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744008T>G | CA402190302 | ASXL3 | c.4163T>G (p.Met1388Arg) c.4160T>G (p.Met1387Arg) c.4040T>G (p.Met1347Arg) c.4136T>G (p.Met1379Arg) c.4082T>G (p.Met1361Arg) c.4043T>G (p.Met1348Arg) c.3992T>G (p.Met1331Arg) c.1124T>G (p.Met375Arg) | |
18 | g.33744008T= | CA2294857941 | ASXL3 | c.4163T= (p.Met1388=) c.4160T= (p.Met1387=) c.4040T= (p.Met1347=) c.4136T= (p.Met1379=) c.4082T= (p.Met1361=) c.4043T= (p.Met1348=) c.3992T= (p.Met1331=) c.1124T= (p.Met375=) | |
18 | g.33744009G>A | CA402190303 | ASXL3 | c.4164G>A (p.Met1388Ile) c.4161G>A (p.Met1387Ile) c.4041G>A (p.Met1347Ile) c.4137G>A (p.Met1379Ile) c.4083G>A (p.Met1361Ile) c.4044G>A (p.Met1348Ile) c.3993G>A (p.Met1331Ile) c.1125G>A (p.Met375Ile) | dbSNP gnomAD v4 |
18 | g.33744009G>C | CA402190304 | ASXL3 | c.4164G>C (p.Met1388Ile) c.4161G>C (p.Met1387Ile) c.4041G>C (p.Met1347Ile) c.4137G>C (p.Met1379Ile) c.4083G>C (p.Met1361Ile) c.4044G>C (p.Met1348Ile) c.3993G>C (p.Met1331Ile) c.1125G>C (p.Met375Ile) | |
18 | g.33744009G= | CA2294857942 | ASXL3 | c.4164G= (p.Met1388=) c.4161G= (p.Met1387=) c.4041G= (p.Met1347=) c.4137G= (p.Met1379=) c.4083G= (p.Met1361=) c.4044G= (p.Met1348=) c.3993G= (p.Met1331=) c.1125G= (p.Met375=) | |
18 | g.33744009G>T | CA402190305 | ASXL3 | c.4164G>T (p.Met1388Ile) c.4161G>T (p.Met1387Ile) c.4041G>T (p.Met1347Ile) c.4137G>T (p.Met1379Ile) c.4083G>T (p.Met1361Ile) c.4044G>T (p.Met1348Ile) c.3993G>T (p.Met1331Ile) c.1125G>T (p.Met375Ile) | gnomAD v4 |
18 | g.33744010G>A | CA402190306 | ASXL3 | c.4165G>A (p.Gly1389Ser) c.4162G>A (p.Gly1388Ser) c.4042G>A (p.Gly1348Ser) c.4138G>A (p.Gly1380Ser) c.4084G>A (p.Gly1362Ser) c.4045G>A (p.Gly1349Ser) c.3994G>A (p.Gly1332Ser) c.1126G>A (p.Gly376Ser) | |
18 | g.33744010G>C | CA402190307 | ASXL3 | c.4165G>C (p.Gly1389Arg) c.4162G>C (p.Gly1388Arg) c.4042G>C (p.Gly1348Arg) c.4138G>C (p.Gly1380Arg) c.4084G>C (p.Gly1362Arg) c.4045G>C (p.Gly1349Arg) c.3994G>C (p.Gly1332Arg) c.1126G>C (p.Gly376Arg) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744010G= | CA2294857943 | ASXL3 | c.4165G= (p.Gly1389=) c.4162G= (p.Gly1388=) c.4042G= (p.Gly1348=) c.4138G= (p.Gly1380=) c.4084G= (p.Gly1362=) c.4045G= (p.Gly1349=) c.3994G= (p.Gly1332=) c.1126G= (p.Gly376=) | |
18 | g.33744010G>T | CA402190308 | ASXL3 | c.4165G>T (p.Gly1389Cys) c.4162G>T (p.Gly1388Cys) c.4042G>T (p.Gly1348Cys) c.4138G>T (p.Gly1380Cys) c.4084G>T (p.Gly1362Cys) c.4045G>T (p.Gly1349Cys) c.3994G>T (p.Gly1332Cys) c.1126G>T (p.Gly376Cys) | |
18 | g.33744011G>A | CA8934186 | ASXL3 | c.4166G>A (p.Gly1389Asp) c.4163G>A (p.Gly1388Asp) c.4043G>A (p.Gly1348Asp) c.4139G>A (p.Gly1380Asp) c.4085G>A (p.Gly1362Asp) c.4046G>A (p.Gly1349Asp) c.3995G>A (p.Gly1332Asp) c.1127G>A (p.Gly376Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744011G>C | CA402190309 | ASXL3 | c.4166G>C (p.Gly1389Ala) c.4163G>C (p.Gly1388Ala) c.4043G>C (p.Gly1348Ala) c.4139G>C (p.Gly1380Ala) c.4085G>C (p.Gly1362Ala) c.4046G>C (p.Gly1349Ala) c.3995G>C (p.Gly1332Ala) c.1127G>C (p.Gly376Ala) | |
18 | g.33744011G= | CA2294857944 | ASXL3 | c.4166G= (p.Gly1389=) c.4163G= (p.Gly1388=) c.4043G= (p.Gly1348=) c.4139G= (p.Gly1380=) c.4085G= (p.Gly1362=) c.4046G= (p.Gly1349=) c.3995G= (p.Gly1332=) c.1127G= (p.Gly376=) | |
18 | g.33744011G>T | CA8934187 | ASXL3 | c.4166G>T (p.Gly1389Val) c.4163G>T (p.Gly1388Val) c.4043G>T (p.Gly1348Val) c.4139G>T (p.Gly1380Val) c.4085G>T (p.Gly1362Val) c.4046G>T (p.Gly1349Val) c.3995G>T (p.Gly1332Val) c.1127G>T (p.Gly376Val) | dbSNP ExAC gnomAD v2 |
18 | g.33744012T>A | CA503770053 | ASXL3 | c.4167T>A (p.Gly1389=) c.4164T>A (p.Gly1388=) c.4044T>A (p.Gly1348=) c.4140T>A (p.Gly1380=) c.4086T>A (p.Gly1362=) c.4047T>A (p.Gly1349=) c.3996T>A (p.Gly1332=) c.1128T>A (p.Gly376=) | |
18 | g.33744012T>C | CA503770055 | ASXL3 | c.4167T>C (p.Gly1389=) c.4164T>C (p.Gly1388=) c.4044T>C (p.Gly1348=) c.4140T>C (p.Gly1380=) c.4086T>C (p.Gly1362=) c.4047T>C (p.Gly1349=) c.3996T>C (p.Gly1332=) c.1128T>C (p.Gly376=) | |
18 | g.33744012T>G | CA503770057 | ASXL3 | c.4167T>G (p.Gly1389=) c.4164T>G (p.Gly1388=) c.4044T>G (p.Gly1348=) c.4140T>G (p.Gly1380=) c.4086T>G (p.Gly1362=) c.4047T>G (p.Gly1349=) c.3996T>G (p.Gly1332=) c.1128T>G (p.Gly376=) | |
18 | g.33744012dup | CA1139666035 | ASXL3 | c.4167dup (p.Thr1390TyrfsTer11) c.4164dup (p.Thr1389TyrfsTer11) c.4044dup (p.Thr1349TyrfsTer11) c.4140dup (p.Thr1381TyrfsTer11) c.4086dup (p.Thr1363TyrfsTer11) c.4047dup (p.Thr1350TyrfsTer11) c.3996dup (p.Thr1333TyrfsTer11) c.1128dup (p.Thr377TyrfsTer11) | ClinVar dbSNP |
18 | g.33744013A>C | CA402190311 | ASXL3 | c.4168A>C (p.Thr1390Pro) c.4165A>C (p.Thr1389Pro) c.4045A>C (p.Thr1349Pro) c.4141A>C (p.Thr1381Pro) c.4087A>C (p.Thr1363Pro) c.4048A>C (p.Thr1350Pro) c.3997A>C (p.Thr1333Pro) c.1129A>C (p.Thr377Pro) | |
18 | g.33744013A>G | CA402190312 | ASXL3 | c.4168A>G (p.Thr1390Ala) c.4165A>G (p.Thr1389Ala) c.4045A>G (p.Thr1349Ala) c.4141A>G (p.Thr1381Ala) c.4087A>G (p.Thr1363Ala) c.4048A>G (p.Thr1350Ala) c.3997A>G (p.Thr1333Ala) c.1129A>G (p.Thr377Ala) | |
18 | g.33744013A>T | CA402190310 | ASXL3 | c.4168A>T (p.Thr1390Ser) c.4165A>T (p.Thr1389Ser) c.4045A>T (p.Thr1349Ser) c.4141A>T (p.Thr1381Ser) c.4087A>T (p.Thr1363Ser) c.4048A>T (p.Thr1350Ser) c.3997A>T (p.Thr1333Ser) c.1129A>T (p.Thr377Ser) | |
18 | g.33744014C>A | CA402190313 | ASXL3 | c.4169C>A (p.Thr1390Asn) c.4166C>A (p.Thr1389Asn) c.4046C>A (p.Thr1349Asn) c.4142C>A (p.Thr1381Asn) c.4088C>A (p.Thr1363Asn) c.4049C>A (p.Thr1350Asn) c.3998C>A (p.Thr1333Asn) c.1130C>A (p.Thr377Asn) | |
18 | g.33744014C= | CA2294857945 | ASXL3 | c.4169C= (p.Thr1390=) c.4166C= (p.Thr1389=) c.4046C= (p.Thr1349=) c.4142C= (p.Thr1381=) c.4088C= (p.Thr1363=) c.4049C= (p.Thr1350=) c.3998C= (p.Thr1333=) c.1130C= (p.Thr377=) | |
18 | g.33744014C>G | CA402190314 | ASXL3 | c.4169C>G (p.Thr1390Ser) c.4166C>G (p.Thr1389Ser) c.4046C>G (p.Thr1349Ser) c.4142C>G (p.Thr1381Ser) c.4088C>G (p.Thr1363Ser) c.4049C>G (p.Thr1350Ser) c.3998C>G (p.Thr1333Ser) c.1130C>G (p.Thr377Ser) | |
18 | g.33744014C>T | CA402190315 | ASXL3 | c.4169C>T (p.Thr1390Ile) c.4166C>T (p.Thr1389Ile) c.4046C>T (p.Thr1349Ile) c.4142C>T (p.Thr1381Ile) c.4088C>T (p.Thr1363Ile) c.4049C>T (p.Thr1350Ile) c.3998C>T (p.Thr1333Ile) c.1130C>T (p.Thr377Ile) | dbSNP gnomAD v4 |
18 | g.33744014_33744015delinsAA | CA645603031 | ASXL3 | c.4169_4170delinsAA (p.Thr1390Lys) c.4166_4167delinsAA (p.Thr1389Lys) c.4046_4047delinsAA (p.Thr1349Lys) c.4142_4143delinsAA (p.Thr1381Lys) c.4088_4089delinsAA (p.Thr1363Lys) c.4049_4050delinsAA (p.Thr1350Lys) c.3998_3999delinsAA (p.Thr1333Lys) c.1130_1131delinsAA (p.Thr377Lys) | COSMIC |
18 | g.33744015C>A | CA503770063 | ASXL3 | c.4170C>A (p.Thr1390=) c.4167C>A (p.Thr1389=) c.4047C>A (p.Thr1349=) c.4143C>A (p.Thr1381=) c.4089C>A (p.Thr1363=) c.4050C>A (p.Thr1350=) c.3999C>A (p.Thr1333=) c.1131C>A (p.Thr377=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744015C= | CA2294857946 | ASXL3 | c.4170C= (p.Thr1390=) c.4167C= (p.Thr1389=) c.4047C= (p.Thr1349=) c.4143C= (p.Thr1381=) c.4089C= (p.Thr1363=) c.4050C= (p.Thr1350=) c.3999C= (p.Thr1333=) c.1131C= (p.Thr377=) | |
18 | g.33744015C>G | CA503770065 | ASXL3 | c.4170C>G (p.Thr1390=) c.4167C>G (p.Thr1389=) c.4047C>G (p.Thr1349=) c.4143C>G (p.Thr1381=) c.4089C>G (p.Thr1363=) c.4050C>G (p.Thr1350=) c.3999C>G (p.Thr1333=) c.1131C>G (p.Thr377=) | |
18 | g.33744015C>T | CA297793403 | ASXL3 | c.4170C>T (p.Thr1390=) c.4167C>T (p.Thr1389=) c.4047C>T (p.Thr1349=) c.4143C>T (p.Thr1381=) c.4089C>T (p.Thr1363=) c.4050C>T (p.Thr1350=) c.3999C>T (p.Thr1333=) c.1131C>T (p.Thr377=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744016A>C | CA402190316 | ASXL3 | c.4171A>C (p.Thr1391Pro) c.4168A>C (p.Thr1390Pro) c.4048A>C (p.Thr1350Pro) c.4144A>C (p.Thr1382Pro) c.4090A>C (p.Thr1364Pro) c.4051A>C (p.Thr1351Pro) c.4000A>C (p.Thr1334Pro) c.1132A>C (p.Thr378Pro) | |
18 | g.33744016A>G | CA402190317 | ASXL3 | c.4171A>G (p.Thr1391Ala) c.4168A>G (p.Thr1390Ala) c.4048A>G (p.Thr1350Ala) c.4144A>G (p.Thr1382Ala) c.4090A>G (p.Thr1364Ala) c.4051A>G (p.Thr1351Ala) c.4000A>G (p.Thr1334Ala) c.1132A>G (p.Thr378Ala) | |
18 | g.33744016A>T | CA402190318 | ASXL3 | c.4171A>T (p.Thr1391Ser) c.4168A>T (p.Thr1390Ser) c.4048A>T (p.Thr1350Ser) c.4144A>T (p.Thr1382Ser) c.4090A>T (p.Thr1364Ser) c.4051A>T (p.Thr1351Ser) c.4000A>T (p.Thr1334Ser) c.1132A>T (p.Thr378Ser) | |
18 | g.33744017C>A | CA402190319 | ASXL3 | c.4172C>A (p.Thr1391Asn) c.4169C>A (p.Thr1390Asn) c.4049C>A (p.Thr1350Asn) c.4145C>A (p.Thr1382Asn) c.4091C>A (p.Thr1364Asn) c.4052C>A (p.Thr1351Asn) c.4001C>A (p.Thr1334Asn) c.1133C>A (p.Thr378Asn) | |
18 | g.33744017C= | CA2294857947 | ASXL3 | c.4172C= (p.Thr1391=) c.4169C= (p.Thr1390=) c.4049C= (p.Thr1350=) c.4145C= (p.Thr1382=) c.4091C= (p.Thr1364=) c.4052C= (p.Thr1351=) c.4001C= (p.Thr1334=) c.1133C= (p.Thr378=) | |
18 | g.33744017C>G | CA402190320 | ASXL3 | c.4172C>G (p.Thr1391Ser) c.4169C>G (p.Thr1390Ser) c.4049C>G (p.Thr1350Ser) c.4145C>G (p.Thr1382Ser) c.4091C>G (p.Thr1364Ser) c.4052C>G (p.Thr1351Ser) c.4001C>G (p.Thr1334Ser) c.1133C>G (p.Thr378Ser) | |
18 | g.33744017C>T | CA8934188 | ASXL3 | c.4172C>T (p.Thr1391Ile) c.4169C>T (p.Thr1390Ile) c.4049C>T (p.Thr1350Ile) c.4145C>T (p.Thr1382Ile) c.4091C>T (p.Thr1364Ile) c.4052C>T (p.Thr1351Ile) c.4001C>T (p.Thr1334Ile) c.1133C>T (p.Thr378Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744018T>A | CA503770072 | ASXL3 | c.4173T>A (p.Thr1391=) c.4170T>A (p.Thr1390=) c.4050T>A (p.Thr1350=) c.4146T>A (p.Thr1382=) c.4092T>A (p.Thr1364=) c.4053T>A (p.Thr1351=) c.4002T>A (p.Thr1334=) c.1134T>A (p.Thr378=) | |
18 | g.33744018T>C | CA8934189 | ASXL3 | c.4173T>C (p.Thr1391=) c.4170T>C (p.Thr1390=) c.4050T>C (p.Thr1350=) c.4146T>C (p.Thr1382=) c.4092T>C (p.Thr1364=) c.4053T>C (p.Thr1351=) c.4002T>C (p.Thr1334=) c.1134T>C (p.Thr378=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744018T>G | CA503770073 | ASXL3 | c.4173T>G (p.Thr1391=) c.4170T>G (p.Thr1390=) c.4050T>G (p.Thr1350=) c.4146T>G (p.Thr1382=) c.4092T>G (p.Thr1364=) c.4053T>G (p.Thr1351=) c.4002T>G (p.Thr1334=) c.1134T>G (p.Thr378=) | |
18 | g.33744018T= | CA2294857948 | ASXL3 | c.4173T= (p.Thr1391=) c.4170T= (p.Thr1390=) c.4050T= (p.Thr1350=) c.4146T= (p.Thr1382=) c.4092T= (p.Thr1364=) c.4053T= (p.Thr1351=) c.4002T= (p.Thr1334=) c.1134T= (p.Thr378=) | |
18 | g.33744018dup | CA658653631 | ASXL3 | c.4173dup (p.Val1392CysfsTer9) c.4170dup (p.Val1391CysfsTer9) c.4050dup (p.Val1351CysfsTer9) c.4146dup (p.Val1383CysfsTer9) c.4092dup (p.Val1365CysfsTer9) c.4053dup (p.Val1352CysfsTer9) c.4002dup (p.Val1335CysfsTer9) c.1134dup (p.Val379CysfsTer9) | dbSNP |
18 | g.33744020_33744021del | CA2695227402 | ASXL3 | c.4175_4176del (p.Val1392GlufsTer8) c.4172_4173del (p.Val1391GlufsTer8) c.4052_4053del (p.Val1351GlufsTer8) c.4148_4149del (p.Val1383GlufsTer8) c.4094_4095del (p.Val1365GlufsTer8) c.4055_4056del (p.Val1352GlufsTer8) c.4004_4005del (p.Val1335GlufsTer8) c.1136_1137del (p.Val379GlufsTer8) | |
18 | g.33744019G>A | CA402190321 | ASXL3 | c.4174G>A (p.Val1392Met) c.4171G>A (p.Val1391Met) c.4051G>A (p.Val1351Met) c.4147G>A (p.Val1383Met) c.4093G>A (p.Val1365Met) c.4054G>A (p.Val1352Met) c.4003G>A (p.Val1335Met) c.1135G>A (p.Val379Met) | gnomAD v4 |
18 | g.33744019G>C | CA402190322 | ASXL3 | c.4174G>C (p.Val1392Leu) c.4171G>C (p.Val1391Leu) c.4051G>C (p.Val1351Leu) c.4147G>C (p.Val1383Leu) c.4093G>C (p.Val1365Leu) c.4054G>C (p.Val1352Leu) c.4003G>C (p.Val1335Leu) c.1135G>C (p.Val379Leu) | dbSNP |
18 | g.33744019G= | CA2294857949 | ASXL3 | c.4174G= (p.Val1392=) c.4171G= (p.Val1391=) c.4051G= (p.Val1351=) c.4147G= (p.Val1383=) c.4093G= (p.Val1365=) c.4054G= (p.Val1352=) c.4003G= (p.Val1335=) c.1135G= (p.Val379=) | |
18 | g.33744019G>T | CA402190323 | ASXL3 | c.4174G>T (p.Val1392Leu) c.4171G>T (p.Val1391Leu) c.4051G>T (p.Val1351Leu) c.4147G>T (p.Val1383Leu) c.4093G>T (p.Val1365Leu) c.4054G>T (p.Val1352Leu) c.4003G>T (p.Val1335Leu) c.1135G>T (p.Val379Leu) | |
18 | g.33744020T>A | CA402190324 | ASXL3 | c.4175T>A (p.Val1392Glu) c.4172T>A (p.Val1391Glu) c.4052T>A (p.Val1351Glu) c.4148T>A (p.Val1383Glu) c.4094T>A (p.Val1365Glu) c.4055T>A (p.Val1352Glu) c.4004T>A (p.Val1335Glu) c.1136T>A (p.Val379Glu) | gnomAD v4 |
18 | g.33744020T>C | CA402190327 | ASXL3 | c.4175T>C (p.Val1392Ala) c.4172T>C (p.Val1391Ala) c.4052T>C (p.Val1351Ala) c.4148T>C (p.Val1383Ala) c.4094T>C (p.Val1365Ala) c.4055T>C (p.Val1352Ala) c.4004T>C (p.Val1335Ala) c.1136T>C (p.Val379Ala) | |
18 | g.33744020T>G | CA402190325 | ASXL3 | c.4175T>G (p.Val1392Gly) c.4172T>G (p.Val1391Gly) c.4052T>G (p.Val1351Gly) c.4148T>G (p.Val1383Gly) c.4094T>G (p.Val1365Gly) c.4055T>G (p.Val1352Gly) c.4004T>G (p.Val1335Gly) c.1136T>G (p.Val379Gly) | gnomAD v4 |
18 | g.33744021G>A | CA503770075 | ASXL3 | c.4176G>A (p.Val1392=) c.4173G>A (p.Val1391=) c.4053G>A (p.Val1351=) c.4149G>A (p.Val1383=) c.4095G>A (p.Val1365=) c.4056G>A (p.Val1352=) c.4005G>A (p.Val1335=) c.1137G>A (p.Val379=) | gnomAD v4 |
18 | g.33744021G>C | CA503770076 | ASXL3 | c.4176G>C (p.Val1392=) c.4173G>C (p.Val1391=) c.4053G>C (p.Val1351=) c.4149G>C (p.Val1383=) c.4095G>C (p.Val1365=) c.4056G>C (p.Val1352=) c.4005G>C (p.Val1335=) c.1137G>C (p.Val379=) | |
18 | g.33744021G>T | CA503770079 | ASXL3 | c.4176G>T (p.Val1392=) c.4173G>T (p.Val1391=) c.4053G>T (p.Val1351=) c.4149G>T (p.Val1383=) c.4095G>T (p.Val1365=) c.4056G>T (p.Val1352=) c.4005G>T (p.Val1335=) c.1137G>T (p.Val379=) | |
18 | g.33744022A= | CA2294857950 | ASXL3 | c.4177A= (p.Arg1393=) c.4174A= (p.Arg1392=) c.4054A= (p.Arg1352=) c.4150A= (p.Arg1384=) c.4096A= (p.Arg1366=) c.4057A= (p.Arg1353=) c.4006A= (p.Arg1336=) c.1138A= (p.Arg380=) | |
18 | g.33744022A>C | CA503770082 | ASXL3 | c.4177A>C (p.Arg1393=) c.4174A>C (p.Arg1392=) c.4054A>C (p.Arg1352=) c.4150A>C (p.Arg1384=) c.4096A>C (p.Arg1366=) c.4057A>C (p.Arg1353=) c.4006A>C (p.Arg1336=) c.1138A>C (p.Arg380=) | |
18 | g.33744022A>G | CA297793413 | ASXL3 | c.4177A>G (p.Arg1393Gly) c.4174A>G (p.Arg1392Gly) c.4054A>G (p.Arg1352Gly) c.4150A>G (p.Arg1384Gly) c.4096A>G (p.Arg1366Gly) c.4057A>G (p.Arg1353Gly) c.4006A>G (p.Arg1336Gly) c.1138A>G (p.Arg380Gly) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744022A>T | CA402190330 | ASXL3 | c.4177A>T (p.Arg1393Ter) c.4174A>T (p.Arg1392Ter) c.4054A>T (p.Arg1352Ter) c.4150A>T (p.Arg1384Ter) c.4096A>T (p.Arg1366Ter) c.4057A>T (p.Arg1353Ter) c.4006A>T (p.Arg1336Ter) c.1138A>T (p.Arg380Ter) | |
18 | g.33744023G>A | CA402190333 | ASXL3 | c.4178G>A (p.Arg1393Lys) c.4175G>A (p.Arg1392Lys) c.4055G>A (p.Arg1352Lys) c.4151G>A (p.Arg1384Lys) c.4097G>A (p.Arg1366Lys) c.4058G>A (p.Arg1353Lys) c.4007G>A (p.Arg1336Lys) c.1139G>A (p.Arg380Lys) | dbSNP |
18 | g.33744023G>C | CA402190335 | ASXL3 | c.4178G>C (p.Arg1393Thr) c.4175G>C (p.Arg1392Thr) c.4055G>C (p.Arg1352Thr) c.4151G>C (p.Arg1384Thr) c.4097G>C (p.Arg1366Thr) c.4058G>C (p.Arg1353Thr) c.4007G>C (p.Arg1336Thr) c.1139G>C (p.Arg380Thr) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744023G= | CA2294857951 | ASXL3 | c.4178G= (p.Arg1393=) c.4175G= (p.Arg1392=) c.4055G= (p.Arg1352=) c.4151G= (p.Arg1384=) c.4097G= (p.Arg1366=) c.4058G= (p.Arg1353=) c.4007G= (p.Arg1336=) c.1139G= (p.Arg380=) | |
18 | g.33744023G>T | CA402190337 | ASXL3 | c.4178G>T (p.Arg1393Ile) c.4175G>T (p.Arg1392Ile) c.4055G>T (p.Arg1352Ile) c.4151G>T (p.Arg1384Ile) c.4097G>T (p.Arg1366Ile) c.4058G>T (p.Arg1353Ile) c.4007G>T (p.Arg1336Ile) c.1139G>T (p.Arg380Ile) | |
18 | g.33744024A= | CA2294857952 | ASXL3 | c.4179A= (p.Arg1393=) c.4176A= (p.Arg1392=) c.4056A= (p.Arg1352=) c.4152A= (p.Arg1384=) c.4098A= (p.Arg1366=) c.4059A= (p.Arg1353=) c.4008A= (p.Arg1336=) c.1140A= (p.Arg380=) | |
18 | g.33744024A>C | CA402190339 | ASXL3 | c.4179A>C (p.Arg1393Ser) c.4176A>C (p.Arg1392Ser) c.4056A>C (p.Arg1352Ser) c.4152A>C (p.Arg1384Ser) c.4098A>C (p.Arg1366Ser) c.4059A>C (p.Arg1353Ser) c.4008A>C (p.Arg1336Ser) c.1140A>C (p.Arg380Ser) | dbSNP gnomAD v2 |
18 | g.33744024A>G | CA503770095 | ASXL3 | c.4179A>G (p.Arg1393=) c.4176A>G (p.Arg1392=) c.4056A>G (p.Arg1352=) c.4152A>G (p.Arg1384=) c.4098A>G (p.Arg1366=) c.4059A>G (p.Arg1353=) c.4008A>G (p.Arg1336=) c.1140A>G (p.Arg380=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744024A>T | CA402190341 | ASXL3 | c.4179A>T (p.Arg1393Ser) c.4176A>T (p.Arg1392Ser) c.4056A>T (p.Arg1352Ser) c.4152A>T (p.Arg1384Ser) c.4098A>T (p.Arg1366Ser) c.4059A>T (p.Arg1353Ser) c.4008A>T (p.Arg1336Ser) c.1140A>T (p.Arg380Ser) | |
18 | g.33744025G>A | CA402190342 | ASXL3 | c.4180G>A (p.Ala1394Thr) c.4177G>A (p.Ala1393Thr) c.4057G>A (p.Ala1353Thr) c.4153G>A (p.Ala1385Thr) c.4099G>A (p.Ala1367Thr) c.4060G>A (p.Ala1354Thr) c.4009G>A (p.Ala1337Thr) c.1141G>A (p.Ala381Thr) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744025G>C | CA402190343 | ASXL3 | c.4180G>C (p.Ala1394Pro) c.4177G>C (p.Ala1393Pro) c.4057G>C (p.Ala1353Pro) c.4153G>C (p.Ala1385Pro) c.4099G>C (p.Ala1367Pro) c.4060G>C (p.Ala1354Pro) c.4009G>C (p.Ala1337Pro) c.1141G>C (p.Ala381Pro) | |
18 | g.33744025G= | CA2294857953 | ASXL3 | c.4180G= (p.Ala1394=) c.4177G= (p.Ala1393=) c.4057G= (p.Ala1353=) c.4153G= (p.Ala1385=) c.4099G= (p.Ala1367=) c.4060G= (p.Ala1354=) c.4009G= (p.Ala1337=) c.1141G= (p.Ala381=) | |
18 | g.33744025G>T | CA402190345 | ASXL3 | c.4180G>T (p.Ala1394Ser) c.4177G>T (p.Ala1393Ser) c.4057G>T (p.Ala1353Ser) c.4153G>T (p.Ala1385Ser) c.4099G>T (p.Ala1367Ser) c.4060G>T (p.Ala1354Ser) c.4009G>T (p.Ala1337Ser) c.1141G>T (p.Ala381Ser) | |
18 | g.33744026C>A | CA402190347 | ASXL3 | c.4181C>A (p.Ala1394Glu) c.4178C>A (p.Ala1393Glu) c.4058C>A (p.Ala1353Glu) c.4154C>A (p.Ala1385Glu) c.4100C>A (p.Ala1367Glu) c.4061C>A (p.Ala1354Glu) c.4010C>A (p.Ala1337Glu) c.1142C>A (p.Ala381Glu) | |
18 | g.33744026C= | CA2294857954 | ASXL3 | c.4181C= (p.Ala1394=) c.4178C= (p.Ala1393=) c.4058C= (p.Ala1353=) c.4154C= (p.Ala1385=) c.4100C= (p.Ala1367=) c.4061C= (p.Ala1354=) c.4010C= (p.Ala1337=) c.1142C= (p.Ala381=) | |
18 | g.33744026C>G | CA402190349 | ASXL3 | c.4181C>G (p.Ala1394Gly) c.4178C>G (p.Ala1393Gly) c.4058C>G (p.Ala1353Gly) c.4154C>G (p.Ala1385Gly) c.4100C>G (p.Ala1367Gly) c.4061C>G (p.Ala1354Gly) c.4010C>G (p.Ala1337Gly) c.1142C>G (p.Ala381Gly) | gnomAD v4 |
18 | g.33744026C>T | CA8934190 | ASXL3 | c.4181C>T (p.Ala1394Val) c.4178C>T (p.Ala1393Val) c.4058C>T (p.Ala1353Val) c.4154C>T (p.Ala1385Val) c.4100C>T (p.Ala1367Val) c.4061C>T (p.Ala1354Val) c.4010C>T (p.Ala1337Val) c.1142C>T (p.Ala381Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744027A>C | CA503770107 | ASXL3 | c.4182A>C (p.Ala1394=) c.4179A>C (p.Ala1393=) c.4059A>C (p.Ala1353=) c.4155A>C (p.Ala1385=) c.4101A>C (p.Ala1367=) c.4062A>C (p.Ala1354=) c.4011A>C (p.Ala1337=) c.1143A>C (p.Ala381=) | |
18 | g.33744027A>G | CA503770110 | ASXL3 | c.4182A>G (p.Ala1394=) c.4179A>G (p.Ala1393=) c.4059A>G (p.Ala1353=) c.4155A>G (p.Ala1385=) c.4101A>G (p.Ala1367=) c.4062A>G (p.Ala1354=) c.4011A>G (p.Ala1337=) c.1143A>G (p.Ala381=) | |
18 | g.33744027A>T | CA503770112 | ASXL3 | c.4182A>T (p.Ala1394=) c.4179A>T (p.Ala1393=) c.4059A>T (p.Ala1353=) c.4155A>T (p.Ala1385=) c.4101A>T (p.Ala1367=) c.4062A>T (p.Ala1354=) c.4011A>T (p.Ala1337=) c.1143A>T (p.Ala381=) | |
18 | g.33744028G>A | CA402190355 | ASXL3 | c.4183G>A (p.Ala1395Thr) c.4180G>A (p.Ala1394Thr) c.4060G>A (p.Ala1354Thr) c.4156G>A (p.Ala1386Thr) c.4102G>A (p.Ala1368Thr) c.4063G>A (p.Ala1355Thr) c.4012G>A (p.Ala1338Thr) c.1144G>A (p.Ala382Thr) | gnomAD v4 |
18 | g.33744028G>C | CA402190358 | ASXL3 | c.4183G>C (p.Ala1395Pro) c.4180G>C (p.Ala1394Pro) c.4060G>C (p.Ala1354Pro) c.4156G>C (p.Ala1386Pro) c.4102G>C (p.Ala1368Pro) c.4063G>C (p.Ala1355Pro) c.4012G>C (p.Ala1338Pro) c.1144G>C (p.Ala382Pro) | |
18 | g.33744028G>T | CA402190353 | ASXL3 | c.4183G>T (p.Ala1395Ser) c.4180G>T (p.Ala1394Ser) c.4060G>T (p.Ala1354Ser) c.4156G>T (p.Ala1386Ser) c.4102G>T (p.Ala1368Ser) c.4063G>T (p.Ala1355Ser) c.4012G>T (p.Ala1338Ser) c.1144G>T (p.Ala382Ser) | |
18 | g.33744028_33744029del | CA2695227403 | ASXL3 | c.4183_4184del (p.Ala1395ProfsTer5) c.4180_4181del (p.Ala1394ProfsTer5) c.4060_4061del (p.Ala1354ProfsTer5) c.4156_4157del (p.Ala1386ProfsTer5) c.4102_4103del (p.Ala1368ProfsTer5) c.4063_4064del (p.Ala1355ProfsTer5) c.4012_4013del (p.Ala1338ProfsTer5) c.1144_1145del (p.Ala382ProfsTer5) | |
18 | g.33744029C>A | CA402190363 | ASXL3 | c.4184C>A (p.Ala1395Asp) c.4181C>A (p.Ala1394Asp) c.4061C>A (p.Ala1354Asp) c.4157C>A (p.Ala1386Asp) c.4103C>A (p.Ala1368Asp) c.4064C>A (p.Ala1355Asp) c.4013C>A (p.Ala1338Asp) c.1145C>A (p.Ala382Asp) | |
18 | g.33744029C>G | CA402190361 | ASXL3 | c.4184C>G (p.Ala1395Gly) c.4181C>G (p.Ala1394Gly) c.4061C>G (p.Ala1354Gly) c.4157C>G (p.Ala1386Gly) c.4103C>G (p.Ala1368Gly) c.4064C>G (p.Ala1355Gly) c.4013C>G (p.Ala1338Gly) c.1145C>G (p.Ala382Gly) | |
18 | g.33744029C>T | CA402190365 | ASXL3 | c.4184C>T (p.Ala1395Val) c.4181C>T (p.Ala1394Val) c.4061C>T (p.Ala1354Val) c.4157C>T (p.Ala1386Val) c.4103C>T (p.Ala1368Val) c.4064C>T (p.Ala1355Val) c.4013C>T (p.Ala1338Val) c.1145C>T (p.Ala382Val) | |
18 | g.33744030C>A | CA503770118 | ASXL3 | c.4185C>A (p.Ala1395=) c.4182C>A (p.Ala1394=) c.4062C>A (p.Ala1354=) c.4158C>A (p.Ala1386=) c.4104C>A (p.Ala1368=) c.4065C>A (p.Ala1355=) c.4014C>A (p.Ala1338=) c.1146C>A (p.Ala382=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744030C= | CA2294857955 | ASXL3 | c.4185C= (p.Ala1395=) c.4182C= (p.Ala1394=) c.4062C= (p.Ala1354=) c.4158C= (p.Ala1386=) c.4104C= (p.Ala1368=) c.4065C= (p.Ala1355=) c.4014C= (p.Ala1338=) c.1146C= (p.Ala382=) | |
18 | g.33744030C>G | CA503770116 | ASXL3 | c.4185C>G (p.Ala1395=) c.4182C>G (p.Ala1394=) c.4062C>G (p.Ala1354=) c.4158C>G (p.Ala1386=) c.4104C>G (p.Ala1368=) c.4065C>G (p.Ala1355=) c.4014C>G (p.Ala1338=) c.1146C>G (p.Ala382=) | gnomAD v4 |
18 | g.33744030C>T | CA503770117 | ASXL3 | c.4185C>T (p.Ala1395=) c.4182C>T (p.Ala1394=) c.4062C>T (p.Ala1354=) c.4158C>T (p.Ala1386=) c.4104C>T (p.Ala1368=) c.4065C>T (p.Ala1355=) c.4014C>T (p.Ala1338=) c.1146C>T (p.Ala382=) | |
18 | g.33744031C>A | CA402190369 | ASXL3 | c.4186C>A (p.Leu1396Ile) c.4183C>A (p.Leu1395Ile) c.4063C>A (p.Leu1355Ile) c.4159C>A (p.Leu1387Ile) c.4105C>A (p.Leu1369Ile) c.4066C>A (p.Leu1356Ile) c.4015C>A (p.Leu1339Ile) c.1147C>A (p.Leu383Ile) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744031C= | CA2294857956 | ASXL3 | c.4186C= (p.Leu1396=) c.4183C= (p.Leu1395=) c.4063C= (p.Leu1355=) c.4159C= (p.Leu1387=) c.4105C= (p.Leu1369=) c.4066C= (p.Leu1356=) c.4015C= (p.Leu1339=) c.1147C= (p.Leu383=) | |
18 | g.33744031C>G | CA402190372 | ASXL3 | c.4186C>G (p.Leu1396Val) c.4183C>G (p.Leu1395Val) c.4063C>G (p.Leu1355Val) c.4159C>G (p.Leu1387Val) c.4105C>G (p.Leu1369Val) c.4066C>G (p.Leu1356Val) c.4015C>G (p.Leu1339Val) c.1147C>G (p.Leu383Val) | |
18 | g.33744031C>T | CA8934191 | ASXL3 | c.4186C>T (p.Leu1396Phe) c.4183C>T (p.Leu1395Phe) c.4063C>T (p.Leu1355Phe) c.4159C>T (p.Leu1387Phe) c.4105C>T (p.Leu1369Phe) c.4066C>T (p.Leu1356Phe) c.4015C>T (p.Leu1339Phe) c.1147C>T (p.Leu383Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744032T>A | CA402190376 | ASXL3 | c.4187T>A (p.Leu1396His) c.4184T>A (p.Leu1395His) c.4064T>A (p.Leu1355His) c.4160T>A (p.Leu1387His) c.4106T>A (p.Leu1369His) c.4067T>A (p.Leu1356His) c.4016T>A (p.Leu1339His) c.1148T>A (p.Leu383His) | |
18 | g.33744032T>C | CA402190380 | ASXL3 | c.4187T>C (p.Leu1396Pro) c.4184T>C (p.Leu1395Pro) c.4064T>C (p.Leu1355Pro) c.4160T>C (p.Leu1387Pro) c.4106T>C (p.Leu1369Pro) c.4067T>C (p.Leu1356Pro) c.4016T>C (p.Leu1339Pro) c.1148T>C (p.Leu383Pro) | gnomAD v4 |
18 | g.33744032T>G | CA402190377 | ASXL3 | c.4187T>G (p.Leu1396Arg) c.4184T>G (p.Leu1395Arg) c.4064T>G (p.Leu1355Arg) c.4160T>G (p.Leu1387Arg) c.4106T>G (p.Leu1369Arg) c.4067T>G (p.Leu1356Arg) c.4016T>G (p.Leu1339Arg) c.1148T>G (p.Leu383Arg) | |
18 | g.33744033C>A | CA503770127 | ASXL3 | c.4188C>A (p.Leu1396=) c.4185C>A (p.Leu1395=) c.4065C>A (p.Leu1355=) c.4161C>A (p.Leu1387=) c.4107C>A (p.Leu1369=) c.4068C>A (p.Leu1356=) c.4017C>A (p.Leu1339=) c.1149C>A (p.Leu383=) | |
18 | g.33744033C>G | CA503770129 | ASXL3 | c.4188C>G (p.Leu1396=) c.4185C>G (p.Leu1395=) c.4065C>G (p.Leu1355=) c.4161C>G (p.Leu1387=) c.4107C>G (p.Leu1369=) c.4068C>G (p.Leu1356=) c.4017C>G (p.Leu1339=) c.1149C>G (p.Leu383=) | |
18 | g.33744033C>T | CA503770132 | ASXL3 | c.4188C>T (p.Leu1396=) c.4185C>T (p.Leu1395=) c.4065C>T (p.Leu1355=) c.4161C>T (p.Leu1387=) c.4107C>T (p.Leu1369=) c.4068C>T (p.Leu1356=) c.4017C>T (p.Leu1339=) c.1149C>T (p.Leu383=) | |
18 | g.33744034A>C | CA402190383 | ASXL3 | c.4189A>C (p.Ser1397Arg) c.4186A>C (p.Ser1396Arg) c.4066A>C (p.Ser1356Arg) c.4162A>C (p.Ser1388Arg) c.4108A>C (p.Ser1370Arg) c.4069A>C (p.Ser1357Arg) c.4018A>C (p.Ser1340Arg) c.1150A>C (p.Ser384Arg) | |
18 | g.33744034A>G | CA402190384 | ASXL3 | c.4189A>G (p.Ser1397Gly) c.4186A>G (p.Ser1396Gly) c.4066A>G (p.Ser1356Gly) c.4162A>G (p.Ser1388Gly) c.4108A>G (p.Ser1370Gly) c.4069A>G (p.Ser1357Gly) c.4018A>G (p.Ser1340Gly) c.1150A>G (p.Ser384Gly) | |
18 | g.33744034A>T | CA402190387 | ASXL3 | c.4189A>T (p.Ser1397Cys) c.4186A>T (p.Ser1396Cys) c.4066A>T (p.Ser1356Cys) c.4162A>T (p.Ser1388Cys) c.4108A>T (p.Ser1370Cys) c.4069A>T (p.Ser1357Cys) c.4018A>T (p.Ser1340Cys) c.1150A>T (p.Ser384Cys) | |
18 | g.33744035G>A | CA402190389 | ASXL3 | c.4190G>A (p.Ser1397Asn) c.4187G>A (p.Ser1396Asn) c.4067G>A (p.Ser1356Asn) c.4163G>A (p.Ser1388Asn) c.4109G>A (p.Ser1370Asn) c.4070G>A (p.Ser1357Asn) c.4019G>A (p.Ser1340Asn) c.1151G>A (p.Ser384Asn) | gnomAD v4 COSMIC |
18 | g.33744035G>C | CA8934192 | ASXL3 | c.4190G>C (p.Ser1397Thr) c.4187G>C (p.Ser1396Thr) c.4067G>C (p.Ser1356Thr) c.4163G>C (p.Ser1388Thr) c.4109G>C (p.Ser1370Thr) c.4070G>C (p.Ser1357Thr) c.4019G>C (p.Ser1340Thr) c.1151G>C (p.Ser384Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744035G= | CA2294857957 | ASXL3 | c.4190G= (p.Ser1397=) c.4187G= (p.Ser1396=) c.4067G= (p.Ser1356=) c.4163G= (p.Ser1388=) c.4109G= (p.Ser1370=) c.4070G= (p.Ser1357=) c.4019G= (p.Ser1340=) c.1151G= (p.Ser384=) | |
18 | g.33744035G>T | CA402190390 | ASXL3 | c.4190G>T (p.Ser1397Ile) c.4187G>T (p.Ser1396Ile) c.4067G>T (p.Ser1356Ile) c.4163G>T (p.Ser1388Ile) c.4109G>T (p.Ser1370Ile) c.4070G>T (p.Ser1357Ile) c.4019G>T (p.Ser1340Ile) c.1151G>T (p.Ser384Ile) | |
18 | g.33744036C>A | CA402190391 | ASXL3 | c.4191C>A (p.Ser1397Arg) c.4188C>A (p.Ser1396Arg) c.4068C>A (p.Ser1356Arg) c.4164C>A (p.Ser1388Arg) c.4110C>A (p.Ser1370Arg) c.4071C>A (p.Ser1357Arg) c.4020C>A (p.Ser1340Arg) c.1152C>A (p.Ser384Arg) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744036C= | CA2294857958 | ASXL3 | c.4191C= (p.Ser1397=) c.4188C= (p.Ser1396=) c.4068C= (p.Ser1356=) c.4164C= (p.Ser1388=) c.4110C= (p.Ser1370=) c.4071C= (p.Ser1357=) c.4020C= (p.Ser1340=) c.1152C= (p.Ser384=) | |
18 | g.33744036C>G | CA402190392 | ASXL3 | c.4191C>G (p.Ser1397Arg) c.4188C>G (p.Ser1396Arg) c.4068C>G (p.Ser1356Arg) c.4164C>G (p.Ser1388Arg) c.4110C>G (p.Ser1370Arg) c.4071C>G (p.Ser1357Arg) c.4020C>G (p.Ser1340Arg) c.1152C>G (p.Ser384Arg) | |
18 | g.33744036C>T | CA503770142 | ASXL3 | c.4191C>T (p.Ser1397=) c.4188C>T (p.Ser1396=) c.4068C>T (p.Ser1356=) c.4164C>T (p.Ser1388=) c.4110C>T (p.Ser1370=) c.4071C>T (p.Ser1357=) c.4020C>T (p.Ser1340=) c.1152C>T (p.Ser384=) | |
18 | g.33744037T>A | CA402190393 | ASXL3 | c.4192T>A (p.Cys1398Ser) c.4189T>A (p.Cys1397Ser) c.4069T>A (p.Cys1357Ser) c.4165T>A (p.Cys1389Ser) c.4111T>A (p.Cys1371Ser) c.4072T>A (p.Cys1358Ser) c.4021T>A (p.Cys1341Ser) c.1153T>A (p.Cys385Ser) | |
18 | g.33744037T>C | CA402190394 | ASXL3 | c.4192T>C (p.Cys1398Arg) c.4189T>C (p.Cys1397Arg) c.4069T>C (p.Cys1357Arg) c.4165T>C (p.Cys1389Arg) c.4111T>C (p.Cys1371Arg) c.4072T>C (p.Cys1358Arg) c.4021T>C (p.Cys1341Arg) c.1153T>C (p.Cys385Arg) | |
18 | g.33744037T>G | CA402190395 | ASXL3 | c.4192T>G (p.Cys1398Gly) c.4189T>G (p.Cys1397Gly) c.4069T>G (p.Cys1357Gly) c.4165T>G (p.Cys1389Gly) c.4111T>G (p.Cys1371Gly) c.4072T>G (p.Cys1358Gly) c.4021T>G (p.Cys1341Gly) c.1153T>G (p.Cys385Gly) | |
18 | g.33744038G>A | CA402190398 | ASXL3 | c.4193G>A (p.Cys1398Tyr) c.4190G>A (p.Cys1397Tyr) c.4070G>A (p.Cys1357Tyr) c.4166G>A (p.Cys1389Tyr) c.4112G>A (p.Cys1371Tyr) c.4073G>A (p.Cys1358Tyr) c.4022G>A (p.Cys1341Tyr) c.1154G>A (p.Cys385Tyr) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744038G>C | CA402190396 | ASXL3 | c.4193G>C (p.Cys1398Ser) c.4190G>C (p.Cys1397Ser) c.4070G>C (p.Cys1357Ser) c.4166G>C (p.Cys1389Ser) c.4112G>C (p.Cys1371Ser) c.4073G>C (p.Cys1358Ser) c.4022G>C (p.Cys1341Ser) c.1154G>C (p.Cys385Ser) | |
18 | g.33744038G= | CA2294857959 | ASXL3 | c.4193G= (p.Cys1398=) c.4190G= (p.Cys1397=) c.4070G= (p.Cys1357=) c.4166G= (p.Cys1389=) c.4112G= (p.Cys1371=) c.4073G= (p.Cys1358=) c.4022G= (p.Cys1341=) c.1154G= (p.Cys385=) | |
18 | g.33744038G>T | CA402190397 | ASXL3 | c.4193G>T (p.Cys1398Phe) c.4190G>T (p.Cys1397Phe) c.4070G>T (p.Cys1357Phe) c.4166G>T (p.Cys1389Phe) c.4112G>T (p.Cys1371Phe) c.4073G>T (p.Cys1358Phe) c.4022G>T (p.Cys1341Phe) c.1154G>T (p.Cys385Phe) | gnomAD v4 |
18 | g.33744039C>A | CA402190399 | ASXL3 | c.4194C>A (p.Cys1398Ter) c.4191C>A (p.Cys1397Ter) c.4071C>A (p.Cys1357Ter) c.4167C>A (p.Cys1389Ter) c.4113C>A (p.Cys1371Ter) c.4074C>A (p.Cys1358Ter) c.4023C>A (p.Cys1341Ter) c.1155C>A (p.Cys385Ter) | |
18 | g.33744039C>G | CA402190400 | ASXL3 | c.4194C>G (p.Cys1398Trp) c.4191C>G (p.Cys1397Trp) c.4071C>G (p.Cys1357Trp) c.4167C>G (p.Cys1389Trp) c.4113C>G (p.Cys1371Trp) c.4074C>G (p.Cys1358Trp) c.4023C>G (p.Cys1341Trp) c.1155C>G (p.Cys385Trp) | |
18 | g.33744039C>T | CA503770150 | ASXL3 | c.4194C>T (p.Cys1398=) c.4191C>T (p.Cys1397=) c.4071C>T (p.Cys1357=) c.4167C>T (p.Cys1389=) c.4113C>T (p.Cys1371=) c.4074C>T (p.Cys1358=) c.4023C>T (p.Cys1341=) c.1155C>T (p.Cys385=) | |
18 | g.33744040A>C | CA402190401 | ASXL3 | c.4195A>C (p.Ser1399Arg) c.4192A>C (p.Ser1398Arg) c.4072A>C (p.Ser1358Arg) c.4168A>C (p.Ser1390Arg) c.4114A>C (p.Ser1372Arg) c.4075A>C (p.Ser1359Arg) c.4024A>C (p.Ser1342Arg) c.1156A>C (p.Ser386Arg) | |
18 | g.33744040A>G | CA402190402 | ASXL3 | c.4195A>G (p.Ser1399Gly) c.4192A>G (p.Ser1398Gly) c.4072A>G (p.Ser1358Gly) c.4168A>G (p.Ser1390Gly) c.4114A>G (p.Ser1372Gly) c.4075A>G (p.Ser1359Gly) c.4024A>G (p.Ser1342Gly) c.1156A>G (p.Ser386Gly) | |
18 | g.33744040A>T | CA402190403 | ASXL3 | c.4195A>T (p.Ser1399Cys) c.4192A>T (p.Ser1398Cys) c.4072A>T (p.Ser1358Cys) c.4168A>T (p.Ser1390Cys) c.4114A>T (p.Ser1372Cys) c.4075A>T (p.Ser1359Cys) c.4024A>T (p.Ser1342Cys) c.1156A>T (p.Ser386Cys) | |
18 | g.33744041G>A | CA402190404 | ASXL3 | c.4196G>A (p.Ser1399Asn) c.4193G>A (p.Ser1398Asn) c.4073G>A (p.Ser1358Asn) c.4169G>A (p.Ser1390Asn) c.4115G>A (p.Ser1372Asn) c.4076G>A (p.Ser1359Asn) c.4025G>A (p.Ser1342Asn) c.1157G>A (p.Ser386Asn) | |
18 | g.33744041G>C | CA402190405 | ASXL3 | c.4196G>C (p.Ser1399Thr) c.4193G>C (p.Ser1398Thr) c.4073G>C (p.Ser1358Thr) c.4169G>C (p.Ser1390Thr) c.4115G>C (p.Ser1372Thr) c.4076G>C (p.Ser1359Thr) c.4025G>C (p.Ser1342Thr) c.1157G>C (p.Ser386Thr) | |
18 | g.33744041G>T | CA402190406 | ASXL3 | c.4196G>T (p.Ser1399Ile) c.4193G>T (p.Ser1398Ile) c.4073G>T (p.Ser1358Ile) c.4169G>T (p.Ser1390Ile) c.4115G>T (p.Ser1372Ile) c.4076G>T (p.Ser1359Ile) c.4025G>T (p.Ser1342Ile) c.1157G>T (p.Ser386Ile) | |
18 | g.33744042T>A | CA402190407 | ASXL3 | c.4197T>A (p.Ser1399Arg) c.4194T>A (p.Ser1398Arg) c.4074T>A (p.Ser1358Arg) c.4170T>A (p.Ser1390Arg) c.4116T>A (p.Ser1372Arg) c.4077T>A (p.Ser1359Arg) c.4026T>A (p.Ser1342Arg) c.1158T>A (p.Ser386Arg) | |
18 | g.33744042T>C | CA503770161 | ASXL3 | c.4197T>C (p.Ser1399=) c.4194T>C (p.Ser1398=) c.4074T>C (p.Ser1358=) c.4170T>C (p.Ser1390=) c.4116T>C (p.Ser1372=) c.4077T>C (p.Ser1359=) c.4026T>C (p.Ser1342=) c.1158T>C (p.Ser386=) | |
18 | g.33744042T>G | CA402190408 | ASXL3 | c.4197T>G (p.Ser1399Arg) c.4194T>G (p.Ser1398Arg) c.4074T>G (p.Ser1358Arg) c.4170T>G (p.Ser1390Arg) c.4116T>G (p.Ser1372Arg) c.4077T>G (p.Ser1359Arg) c.4026T>G (p.Ser1342Arg) c.1158T>G (p.Ser386Arg) | |
18 | g.33744043G>A | CA8934193 | ASXL3 | c.4198G>A (p.Asp1400Asn) c.4195G>A (p.Asp1399Asn) c.4075G>A (p.Asp1359Asn) c.4171G>A (p.Asp1391Asn) c.4117G>A (p.Asp1373Asn) c.4078G>A (p.Asp1360Asn) c.4027G>A (p.Asp1343Asn) c.1159G>A (p.Asp387Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744043G>C | CA402190410 | ASXL3 | c.4198G>C (p.Asp1400His) c.4195G>C (p.Asp1399His) c.4075G>C (p.Asp1359His) c.4171G>C (p.Asp1391His) c.4117G>C (p.Asp1373His) c.4078G>C (p.Asp1360His) c.4027G>C (p.Asp1343His) c.1159G>C (p.Asp387His) | |
18 | g.33744043G= | CA2294857960 | ASXL3 | c.4198G= (p.Asp1400=) c.4195G= (p.Asp1399=) c.4075G= (p.Asp1359=) c.4171G= (p.Asp1391=) c.4117G= (p.Asp1373=) c.4078G= (p.Asp1360=) c.4027G= (p.Asp1343=) c.1159G= (p.Asp387=) | |
18 | g.33744043G>T | CA402190409 | ASXL3 | c.4198G>T (p.Asp1400Tyr) c.4195G>T (p.Asp1399Tyr) c.4075G>T (p.Asp1359Tyr) c.4171G>T (p.Asp1391Tyr) c.4117G>T (p.Asp1373Tyr) c.4078G>T (p.Asp1360Tyr) c.4027G>T (p.Asp1343Tyr) c.1159G>T (p.Asp387Tyr) | |
18 | g.33744044A>C | CA402190411 | ASXL3 | c.4199A>C (p.Asp1400Ala) c.4196A>C (p.Asp1399Ala) c.4076A>C (p.Asp1359Ala) c.4172A>C (p.Asp1391Ala) c.4118A>C (p.Asp1373Ala) c.4079A>C (p.Asp1360Ala) c.4028A>C (p.Asp1343Ala) c.1160A>C (p.Asp387Ala) | |
18 | g.33744044A>G | CA402190412 | ASXL3 | c.4199A>G (p.Asp1400Gly) c.4196A>G (p.Asp1399Gly) c.4076A>G (p.Asp1359Gly) c.4172A>G (p.Asp1391Gly) c.4118A>G (p.Asp1373Gly) c.4079A>G (p.Asp1360Gly) c.4028A>G (p.Asp1343Gly) c.1160A>G (p.Asp387Gly) | |
18 | g.33744044A>T | CA402190413 | ASXL3 | c.4199A>T (p.Asp1400Val) c.4196A>T (p.Asp1399Val) c.4076A>T (p.Asp1359Val) c.4172A>T (p.Asp1391Val) c.4118A>T (p.Asp1373Val) c.4079A>T (p.Asp1360Val) c.4028A>T (p.Asp1343Val) c.1160A>T (p.Asp387Val) | |
18 | g.33744045T>A | CA402190414 | ASXL3 | c.4200T>A (p.Asp1400Glu) c.4197T>A (p.Asp1399Glu) c.4077T>A (p.Asp1359Glu) c.4173T>A (p.Asp1391Glu) c.4119T>A (p.Asp1373Glu) c.4080T>A (p.Asp1360Glu) c.4029T>A (p.Asp1343Glu) c.1161T>A (p.Asp387Glu) | |
18 | g.33744045T>C | CA8934194 | ASXL3 | c.4200T>C (p.Asp1400=) c.4197T>C (p.Asp1399=) c.4077T>C (p.Asp1359=) c.4173T>C (p.Asp1391=) c.4119T>C (p.Asp1373=) c.4080T>C (p.Asp1360=) c.4029T>C (p.Asp1343=) c.1161T>C (p.Asp387=) | dbSNP ExAC gnomAD v2 |
18 | g.33744045T>G | CA402190415 | ASXL3 | c.4200T>G (p.Asp1400Glu) c.4197T>G (p.Asp1399Glu) c.4077T>G (p.Asp1359Glu) c.4173T>G (p.Asp1391Glu) c.4119T>G (p.Asp1373Glu) c.4080T>G (p.Asp1360Glu) c.4029T>G (p.Asp1343Glu) c.1161T>G (p.Asp387Glu) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744045T= | CA2294857961 | ASXL3 | c.4200T= (p.Asp1400=) c.4197T= (p.Asp1399=) c.4077T= (p.Asp1359=) c.4173T= (p.Asp1391=) c.4119T= (p.Asp1373=) c.4080T= (p.Asp1360=) c.4029T= (p.Asp1343=) c.1161T= (p.Asp387=) | |
18 | g.33744046T>A | CA402190416 | ASXL3 | c.4201T>A (p.Ser1401Thr) c.4198T>A (p.Ser1400Thr) c.4078T>A (p.Ser1360Thr) c.4174T>A (p.Ser1392Thr) c.4120T>A (p.Ser1374Thr) c.4081T>A (p.Ser1361Thr) c.4030T>A (p.Ser1344Thr) c.1162T>A (p.Ser388Thr) | |
18 | g.33744046T>C | CA402190417 | ASXL3 | c.4201T>C (p.Ser1401Pro) c.4198T>C (p.Ser1400Pro) c.4078T>C (p.Ser1360Pro) c.4174T>C (p.Ser1392Pro) c.4120T>C (p.Ser1374Pro) c.4081T>C (p.Ser1361Pro) c.4030T>C (p.Ser1344Pro) c.1162T>C (p.Ser388Pro) | |
18 | g.33744046T>G | CA8934195 | ASXL3 | c.4201T>G (p.Ser1401Ala) c.4198T>G (p.Ser1400Ala) c.4078T>G (p.Ser1360Ala) c.4174T>G (p.Ser1392Ala) c.4120T>G (p.Ser1374Ala) c.4081T>G (p.Ser1361Ala) c.4030T>G (p.Ser1344Ala) c.1162T>G (p.Ser388Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744046T= | CA2294857962 | ASXL3 | c.4201T= (p.Ser1401=) c.4198T= (p.Ser1400=) c.4078T= (p.Ser1360=) c.4174T= (p.Ser1392=) c.4120T= (p.Ser1374=) c.4081T= (p.Ser1361=) c.4030T= (p.Ser1344=) c.1162T= (p.Ser388=) | |
18 | g.33744047C>A | CA402190418 | ASXL3 | c.4202C>A (p.Ser1401Tyr) c.4199C>A (p.Ser1400Tyr) c.4079C>A (p.Ser1360Tyr) c.4175C>A (p.Ser1392Tyr) c.4121C>A (p.Ser1374Tyr) c.4082C>A (p.Ser1361Tyr) c.4031C>A (p.Ser1344Tyr) c.1163C>A (p.Ser388Tyr) | |
18 | g.33744047C= | CA2294857963 | ASXL3 | c.4202C= (p.Ser1401=) c.4199C= (p.Ser1400=) c.4079C= (p.Ser1360=) c.4175C= (p.Ser1392=) c.4121C= (p.Ser1374=) c.4082C= (p.Ser1361=) c.4031C= (p.Ser1344=) c.1163C= (p.Ser388=) | |
18 | g.33744047C>G | CA8934196 | ASXL3 | c.4202C>G (p.Ser1401Cys) c.4199C>G (p.Ser1400Cys) c.4079C>G (p.Ser1360Cys) c.4175C>G (p.Ser1392Cys) c.4121C>G (p.Ser1374Cys) c.4082C>G (p.Ser1361Cys) c.4031C>G (p.Ser1344Cys) c.1163C>G (p.Ser388Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744047C>T | CA297793434 | ASXL3 | c.4202C>T (p.Ser1401Phe) c.4199C>T (p.Ser1400Phe) c.4079C>T (p.Ser1360Phe) c.4175C>T (p.Ser1392Phe) c.4121C>T (p.Ser1374Phe) c.4082C>T (p.Ser1361Phe) c.4031C>T (p.Ser1344Phe) c.1163C>T (p.Ser388Phe) | dbSNP |
18 | g.33744048_33744053del | CA2576484146 | ASXL3 | c.4203_4208del (p.Val1402_Ala1403del) c.4200_4205del (p.Val1401_Ala1402del) c.4080_4085del (p.Val1361_Ala1362del) c.4176_4181del (p.Val1393_Ala1394del) c.4122_4127del (p.Val1375_Ala1376del) c.4083_4088del (p.Val1362_Ala1363del) c.4032_4037del (p.Val1345_Ala1346del) c.1164_1169del (p.Val389_Ala390del) | gnomAD v4 |
18 | g.33744048T>A | CA503770179 | ASXL3 | c.4203T>A (p.Ser1401=) c.4200T>A (p.Ser1400=) c.4080T>A (p.Ser1360=) c.4176T>A (p.Ser1392=) c.4122T>A (p.Ser1374=) c.4083T>A (p.Ser1361=) c.4032T>A (p.Ser1344=) c.1164T>A (p.Ser388=) | |
18 | g.33744048T>C | CA297793438 | ASXL3 | c.4203T>C (p.Ser1401=) c.4200T>C (p.Ser1400=) c.4080T>C (p.Ser1360=) c.4176T>C (p.Ser1392=) c.4122T>C (p.Ser1374=) c.4083T>C (p.Ser1361=) c.4032T>C (p.Ser1344=) c.1164T>C (p.Ser388=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744048T>G | CA503770181 | ASXL3 | c.4203T>G (p.Ser1401=) c.4200T>G (p.Ser1400=) c.4080T>G (p.Ser1360=) c.4176T>G (p.Ser1392=) c.4122T>G (p.Ser1374=) c.4083T>G (p.Ser1361=) c.4032T>G (p.Ser1344=) c.1164T>G (p.Ser388=) | |
18 | g.33744048T= | CA2294857964 | ASXL3 | c.4203T= (p.Ser1401=) c.4200T= (p.Ser1400=) c.4080T= (p.Ser1360=) c.4176T= (p.Ser1392=) c.4122T= (p.Ser1374=) c.4083T= (p.Ser1361=) c.4032T= (p.Ser1344=) c.1164T= (p.Ser388=) | |
18 | g.33744049G>A | CA402190421 | ASXL3 | c.4204G>A (p.Val1402Ile) c.4201G>A (p.Val1401Ile) c.4081G>A (p.Val1361Ile) c.4177G>A (p.Val1393Ile) c.4123G>A (p.Val1375Ile) c.4084G>A (p.Val1362Ile) c.4033G>A (p.Val1345Ile) c.1165G>A (p.Val389Ile) | |
18 | g.33744049G>C | CA402190420 | ASXL3 | c.4204G>C (p.Val1402Leu) c.4201G>C (p.Val1401Leu) c.4081G>C (p.Val1361Leu) c.4177G>C (p.Val1393Leu) c.4123G>C (p.Val1375Leu) c.4084G>C (p.Val1362Leu) c.4033G>C (p.Val1345Leu) c.1165G>C (p.Val389Leu) | gnomAD v4 |
18 | g.33744049G= | CA2294857965 | ASXL3 | c.4204G= (p.Val1402=) c.4201G= (p.Val1401=) c.4081G= (p.Val1361=) c.4177G= (p.Val1393=) c.4123G= (p.Val1375=) c.4084G= (p.Val1362=) c.4033G= (p.Val1345=) c.1165G= (p.Val389=) | |
18 | g.33744049G>T | CA402190419 | ASXL3 | c.4204G>T (p.Val1402Leu) c.4201G>T (p.Val1401Leu) c.4081G>T (p.Val1361Leu) c.4177G>T (p.Val1393Leu) c.4123G>T (p.Val1375Leu) c.4084G>T (p.Val1362Leu) c.4033G>T (p.Val1345Leu) c.1165G>T (p.Val389Leu) | dbSNP |
18 | g.33744050T>A | CA402190422 | ASXL3 | c.4205T>A (p.Val1402Glu) c.4202T>A (p.Val1401Glu) c.4082T>A (p.Val1361Glu) c.4178T>A (p.Val1393Glu) c.4124T>A (p.Val1375Glu) c.4085T>A (p.Val1362Glu) c.4034T>A (p.Val1345Glu) c.1166T>A (p.Val389Glu) | |
18 | g.33744050T>C | CA402190423 | ASXL3 | c.4205T>C (p.Val1402Ala) c.4202T>C (p.Val1401Ala) c.4082T>C (p.Val1361Ala) c.4178T>C (p.Val1393Ala) c.4124T>C (p.Val1375Ala) c.4085T>C (p.Val1362Ala) c.4034T>C (p.Val1345Ala) c.1166T>C (p.Val389Ala) | gnomAD v4 |
18 | g.33744050T>G | CA402190424 | ASXL3 | c.4205T>G (p.Val1402Gly) c.4202T>G (p.Val1401Gly) c.4082T>G (p.Val1361Gly) c.4178T>G (p.Val1393Gly) c.4124T>G (p.Val1375Gly) c.4085T>G (p.Val1362Gly) c.4034T>G (p.Val1345Gly) c.1166T>G (p.Val389Gly) | |
18 | g.33744051A= | CA2294857966 | ASXL3 | c.4206A= (p.Val1402=) c.4203A= (p.Val1401=) c.4083A= (p.Val1361=) c.4179A= (p.Val1393=) c.4125A= (p.Val1375=) c.4086A= (p.Val1362=) c.4035A= (p.Val1345=) c.1167A= (p.Val389=) | |
18 | g.33744051A>C | CA503770189 | ASXL3 | c.4206A>C (p.Val1402=) c.4203A>C (p.Val1401=) c.4083A>C (p.Val1361=) c.4179A>C (p.Val1393=) c.4125A>C (p.Val1375=) c.4086A>C (p.Val1362=) c.4035A>C (p.Val1345=) c.1167A>C (p.Val389=) | |
18 | g.33744051A>G | CA8934197 | ASXL3 | c.4206A>G (p.Val1402=) c.4203A>G (p.Val1401=) c.4083A>G (p.Val1361=) c.4179A>G (p.Val1393=) c.4125A>G (p.Val1375=) c.4086A>G (p.Val1362=) c.4035A>G (p.Val1345=) c.1167A>G (p.Val389=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744051A>T | CA503770191 | ASXL3 | c.4206A>T (p.Val1402=) c.4203A>T (p.Val1401=) c.4083A>T (p.Val1361=) c.4179A>T (p.Val1393=) c.4125A>T (p.Val1375=) c.4086A>T (p.Val1362=) c.4035A>T (p.Val1345=) c.1167A>T (p.Val389=) | |
18 | g.33744052G>A | CA402190425 | ASXL3 | c.4207G>A (p.Ala1403Thr) c.4204G>A (p.Ala1402Thr) c.4084G>A (p.Ala1362Thr) c.4180G>A (p.Ala1394Thr) c.4126G>A (p.Ala1376Thr) c.4087G>A (p.Ala1363Thr) c.4036G>A (p.Ala1346Thr) c.1168G>A (p.Ala390Thr) | gnomAD v4 |
18 | g.33744052G>C | CA402190426 | ASXL3 | c.4207G>C (p.Ala1403Pro) c.4204G>C (p.Ala1402Pro) c.4084G>C (p.Ala1362Pro) c.4180G>C (p.Ala1394Pro) c.4126G>C (p.Ala1376Pro) c.4087G>C (p.Ala1363Pro) c.4036G>C (p.Ala1346Pro) c.1168G>C (p.Ala390Pro) | |
18 | g.33744052G= | CA2294857967 | ASXL3 | c.4207G= (p.Ala1403=) c.4204G= (p.Ala1402=) c.4084G= (p.Ala1362=) c.4180G= (p.Ala1394=) c.4126G= (p.Ala1376=) c.4087G= (p.Ala1363=) c.4036G= (p.Ala1346=) c.1168G= (p.Ala390=) | |
18 | g.33744052G>T | CA402190427 | ASXL3 | c.4207G>T (p.Ala1403Ser) c.4204G>T (p.Ala1402Ser) c.4084G>T (p.Ala1362Ser) c.4180G>T (p.Ala1394Ser) c.4126G>T (p.Ala1376Ser) c.4087G>T (p.Ala1363Ser) c.4036G>T (p.Ala1346Ser) c.1168G>T (p.Ala390Ser) | dbSNP gnomAD v4 |
18 | g.33744053C>A | CA402190428 | ASXL3 | c.4208C>A (p.Ala1403Glu) c.4205C>A (p.Ala1402Glu) c.4085C>A (p.Ala1362Glu) c.4181C>A (p.Ala1394Glu) c.4127C>A (p.Ala1376Glu) c.4088C>A (p.Ala1363Glu) c.4037C>A (p.Ala1346Glu) c.1169C>A (p.Ala390Glu) | |
18 | g.33744053C= | CA2294857968 | ASXL3 | c.4208C= (p.Ala1403=) c.4205C= (p.Ala1402=) c.4085C= (p.Ala1362=) c.4181C= (p.Ala1394=) c.4127C= (p.Ala1376=) c.4088C= (p.Ala1363=) c.4037C= (p.Ala1346=) c.1169C= (p.Ala390=) | |
18 | g.33744053C>G | CA402190429 | ASXL3 | c.4208C>G (p.Ala1403Gly) c.4205C>G (p.Ala1402Gly) c.4085C>G (p.Ala1362Gly) c.4181C>G (p.Ala1394Gly) c.4127C>G (p.Ala1376Gly) c.4088C>G (p.Ala1363Gly) c.4037C>G (p.Ala1346Gly) c.1169C>G (p.Ala390Gly) | |
18 | g.33744053C>T | CA8934198 | ASXL3 | c.4208C>T (p.Ala1403Val) c.4205C>T (p.Ala1402Val) c.4085C>T (p.Ala1362Val) c.4181C>T (p.Ala1394Val) c.4127C>T (p.Ala1376Val) c.4088C>T (p.Ala1363Val) c.4037C>T (p.Ala1346Val) c.1169C>T (p.Ala390Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744054G>A | CA8934199 | ASXL3 | c.4209G>A (p.Ala1403=) c.4206G>A (p.Ala1402=) c.4086G>A (p.Ala1362=) c.4182G>A (p.Ala1394=) c.4128G>A (p.Ala1376=) c.4089G>A (p.Ala1363=) c.4038G>A (p.Ala1346=) c.1170G>A (p.Ala390=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744054G>C | CA503770203 | ASXL3 | c.4209G>C (p.Ala1403=) c.4206G>C (p.Ala1402=) c.4086G>C (p.Ala1362=) c.4182G>C (p.Ala1394=) c.4128G>C (p.Ala1376=) c.4089G>C (p.Ala1363=) c.4038G>C (p.Ala1346=) c.1170G>C (p.Ala390=) | |
18 | g.33744054G= | CA2294857969 | ASXL3 | c.4209G= (p.Ala1403=) c.4206G= (p.Ala1402=) c.4086G= (p.Ala1362=) c.4182G= (p.Ala1394=) c.4128G= (p.Ala1376=) c.4089G= (p.Ala1363=) c.4038G= (p.Ala1346=) c.1170G= (p.Ala390=) | |
18 | g.33744054G>T | CA8934200 | ASXL3 | c.4209G>T (p.Ala1403=) c.4206G>T (p.Ala1402=) c.4086G>T (p.Ala1362=) c.4182G>T (p.Ala1394=) c.4128G>T (p.Ala1376=) c.4089G>T (p.Ala1363=) c.4038G>T (p.Ala1346=) c.1170G>T (p.Ala390=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744055G>A | CA402190432 | ASXL3 | c.4210G>A (p.Val1404Ile) c.4207G>A (p.Val1403Ile) c.4087G>A (p.Val1363Ile) c.4183G>A (p.Val1395Ile) c.4129G>A (p.Val1377Ile) c.4090G>A (p.Val1364Ile) c.4039G>A (p.Val1347Ile) c.1171G>A (p.Val391Ile) | gnomAD v4 COSMIC |
18 | g.33744055G>C | CA402190431 | ASXL3 | c.4210G>C (p.Val1404Leu) c.4207G>C (p.Val1403Leu) c.4087G>C (p.Val1363Leu) c.4183G>C (p.Val1395Leu) c.4129G>C (p.Val1377Leu) c.4090G>C (p.Val1364Leu) c.4039G>C (p.Val1347Leu) c.1171G>C (p.Val391Leu) | |
18 | g.33744055G>T | CA402190430 | ASXL3 | c.4210G>T (p.Val1404Phe) c.4207G>T (p.Val1403Phe) c.4087G>T (p.Val1363Phe) c.4183G>T (p.Val1395Phe) c.4129G>T (p.Val1377Phe) c.4090G>T (p.Val1364Phe) c.4039G>T (p.Val1347Phe) c.1171G>T (p.Val391Phe) | |
18 | g.33744056T>A | CA402190433 | ASXL3 | c.4211T>A (p.Val1404Asp) c.4208T>A (p.Val1403Asp) c.4088T>A (p.Val1363Asp) c.4184T>A (p.Val1395Asp) c.4130T>A (p.Val1377Asp) c.4091T>A (p.Val1364Asp) c.4040T>A (p.Val1347Asp) c.1172T>A (p.Val391Asp) | |
18 | g.33744056T>C | CA402190435 | ASXL3 | c.4211T>C (p.Val1404Ala) c.4208T>C (p.Val1403Ala) c.4088T>C (p.Val1363Ala) c.4184T>C (p.Val1395Ala) c.4130T>C (p.Val1377Ala) c.4091T>C (p.Val1364Ala) c.4040T>C (p.Val1347Ala) c.1172T>C (p.Val391Ala) | |
18 | g.33744056T>G | CA402190434 | ASXL3 | c.4211T>G (p.Val1404Gly) c.4208T>G (p.Val1403Gly) c.4088T>G (p.Val1363Gly) c.4184T>G (p.Val1395Gly) c.4130T>G (p.Val1377Gly) c.4091T>G (p.Val1364Gly) c.4040T>G (p.Val1347Gly) c.1172T>G (p.Val391Gly) | |
18 | g.33744056_33744058delinsTCA | CA2294857970 | ASXL3 | c.4211_4213delinsTCA (p.Val1404=) c.4208_4210delinsTCA (p.Val1403=) c.4088_4090delinsTCA (p.Val1363=) c.4184_4186delinsTCA (p.Val1395=) c.4130_4132delinsTCA (p.Val1377=) c.4091_4093delinsTCA (p.Val1364=) c.4040_4042delinsTCA (p.Val1347=) c.1172_1174delinsTCA (p.Val391=) | |
18 | g.33744057C>A | CA503770216 | ASXL3 | c.4212C>A (p.Val1404=) c.4209C>A (p.Val1403=) c.4089C>A (p.Val1363=) c.4185C>A (p.Val1395=) c.4131C>A (p.Val1377=) c.4092C>A (p.Val1364=) c.4041C>A (p.Val1347=) c.1173C>A (p.Val391=) | |
18 | g.33744057C= | CA2294857971 | ASXL3 | c.4212C= (p.Val1404=) c.4209C= (p.Val1403=) c.4089C= (p.Val1363=) c.4185C= (p.Val1395=) c.4131C= (p.Val1377=) c.4092C= (p.Val1364=) c.4041C= (p.Val1347=) c.1173C= (p.Val391=) | |
18 | g.33744057C>G | CA503770217 | ASXL3 | c.4212C>G (p.Val1404=) c.4209C>G (p.Val1403=) c.4089C>G (p.Val1363=) c.4185C>G (p.Val1395=) c.4131C>G (p.Val1377=) c.4092C>G (p.Val1364=) c.4041C>G (p.Val1347=) c.1173C>G (p.Val391=) | dbSNP gnomAD v4 |
18 | g.33744057C>T | CA503770215 | ASXL3 | c.4212C>T (p.Val1404=) c.4209C>T (p.Val1403=) c.4089C>T (p.Val1363=) c.4185C>T (p.Val1395=) c.4131C>T (p.Val1377=) c.4092C>T (p.Val1364=) c.4041C>T (p.Val1347=) c.1173C>T (p.Val391=) | |
18 | g.33744059_33744060del | CA658656736 | ASXL3 | c.4214_4215del (p.Thr1405ArgfsTer23) c.4211_4212del (p.Thr1404ArgfsTer23) c.4091_4092del (p.Thr1364ArgfsTer23) c.4187_4188del (p.Thr1396ArgfsTer23) c.4133_4134del (p.Thr1378ArgfsTer23) c.4094_4095del (p.Thr1365ArgfsTer23) c.4043_4044del (p.Thr1348ArgfsTer23) c.1175_1176del (p.Thr392ArgfsTer23) | ClinVar dbSNP |
18 | g.33744058A>C | CA402190436 | ASXL3 | c.4213A>C (p.Thr1405Pro) c.4210A>C (p.Thr1404Pro) c.4090A>C (p.Thr1364Pro) c.4186A>C (p.Thr1396Pro) c.4132A>C (p.Thr1378Pro) c.4093A>C (p.Thr1365Pro) c.4042A>C (p.Thr1348Pro) c.1174A>C (p.Thr392Pro) | |
18 | g.33744058A>G | CA402190437 | ASXL3 | c.4213A>G (p.Thr1405Ala) c.4210A>G (p.Thr1404Ala) c.4090A>G (p.Thr1364Ala) c.4186A>G (p.Thr1396Ala) c.4132A>G (p.Thr1378Ala) c.4093A>G (p.Thr1365Ala) c.4042A>G (p.Thr1348Ala) c.1174A>G (p.Thr392Ala) | gnomAD v4 |
18 | g.33744058A>T | CA402190438 | ASXL3 | c.4213A>T (p.Thr1405Ser) c.4210A>T (p.Thr1404Ser) c.4090A>T (p.Thr1364Ser) c.4186A>T (p.Thr1396Ser) c.4132A>T (p.Thr1378Ser) c.4093A>T (p.Thr1365Ser) c.4042A>T (p.Thr1348Ser) c.1174A>T (p.Thr392Ser) | |
18 | g.33744059C>A | CA402190439 | ASXL3 | c.4214C>A (p.Thr1405Lys) c.4211C>A (p.Thr1404Lys) c.4091C>A (p.Thr1364Lys) c.4187C>A (p.Thr1396Lys) c.4133C>A (p.Thr1378Lys) c.4094C>A (p.Thr1365Lys) c.4043C>A (p.Thr1348Lys) c.1175C>A (p.Thr392Lys) | |
18 | g.33744059C= | CA2294857972 | ASXL3 | c.4214C= (p.Thr1405=) c.4211C= (p.Thr1404=) c.4091C= (p.Thr1364=) c.4187C= (p.Thr1396=) c.4133C= (p.Thr1378=) c.4094C= (p.Thr1365=) c.4043C= (p.Thr1348=) c.1175C= (p.Thr392=) | |
18 | g.33744059C>G | CA8934201 | ASXL3 | c.4214C>G (p.Thr1405Arg) c.4211C>G (p.Thr1404Arg) c.4091C>G (p.Thr1364Arg) c.4187C>G (p.Thr1396Arg) c.4133C>G (p.Thr1378Arg) c.4094C>G (p.Thr1365Arg) c.4043C>G (p.Thr1348Arg) c.1175C>G (p.Thr392Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744059C>T | CA297793455 | ASXL3 | c.4214C>T (p.Thr1405Ile) c.4211C>T (p.Thr1404Ile) c.4091C>T (p.Thr1364Ile) c.4187C>T (p.Thr1396Ile) c.4133C>T (p.Thr1378Ile) c.4094C>T (p.Thr1365Ile) c.4043C>T (p.Thr1348Ile) c.1175C>T (p.Thr392Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744060A>C | CA503770228 | ASXL3 | c.4215A>C (p.Thr1405=) c.4212A>C (p.Thr1404=) c.4092A>C (p.Thr1364=) c.4188A>C (p.Thr1396=) c.4134A>C (p.Thr1378=) c.4095A>C (p.Thr1365=) c.4044A>C (p.Thr1348=) c.1176A>C (p.Thr392=) | |
18 | g.33744060A>G | CA503770227 | ASXL3 | c.4215A>G (p.Thr1405=) c.4212A>G (p.Thr1404=) c.4092A>G (p.Thr1364=) c.4188A>G (p.Thr1396=) c.4134A>G (p.Thr1378=) c.4095A>G (p.Thr1365=) c.4044A>G (p.Thr1348=) c.1176A>G (p.Thr392=) | |
18 | g.33744060A>T | CA503770226 | ASXL3 | c.4215A>T (p.Thr1405=) c.4212A>T (p.Thr1404=) c.4092A>T (p.Thr1364=) c.4188A>T (p.Thr1396=) c.4134A>T (p.Thr1378=) c.4095A>T (p.Thr1365=) c.4044A>T (p.Thr1348=) c.1176A>T (p.Thr392=) | |
18 | g.33744061G>A | CA402190440 | ASXL3 | c.4216G>A (p.Asp1406Asn) c.4213G>A (p.Asp1405Asn) c.4093G>A (p.Asp1365Asn) c.4189G>A (p.Asp1397Asn) c.4135G>A (p.Asp1379Asn) c.4096G>A (p.Asp1366Asn) c.4045G>A (p.Asp1349Asn) c.1177G>A (p.Asp393Asn) | |
18 | g.33744061G>C | CA402190441 | ASXL3 | c.4216G>C (p.Asp1406His) c.4213G>C (p.Asp1405His) c.4093G>C (p.Asp1365His) c.4189G>C (p.Asp1397His) c.4135G>C (p.Asp1379His) c.4096G>C (p.Asp1366His) c.4045G>C (p.Asp1349His) c.1177G>C (p.Asp393His) | gnomAD v4 |
18 | g.33744061G>T | CA402190442 | ASXL3 | c.4216G>T (p.Asp1406Tyr) c.4213G>T (p.Asp1405Tyr) c.4093G>T (p.Asp1365Tyr) c.4189G>T (p.Asp1397Tyr) c.4135G>T (p.Asp1379Tyr) c.4096G>T (p.Asp1366Tyr) c.4045G>T (p.Asp1349Tyr) c.1177G>T (p.Asp393Tyr) | |
18 | g.33744062A>C | CA402190443 | ASXL3 | c.4217A>C (p.Asp1406Ala) c.4214A>C (p.Asp1405Ala) c.4094A>C (p.Asp1365Ala) c.4190A>C (p.Asp1397Ala) c.4136A>C (p.Asp1379Ala) c.4097A>C (p.Asp1366Ala) c.4046A>C (p.Asp1349Ala) c.1178A>C (p.Asp393Ala) | |
18 | g.33744062A>G | CA402190444 | ASXL3 | c.4217A>G (p.Asp1406Gly) c.4214A>G (p.Asp1405Gly) c.4094A>G (p.Asp1365Gly) c.4190A>G (p.Asp1397Gly) c.4136A>G (p.Asp1379Gly) c.4097A>G (p.Asp1366Gly) c.4046A>G (p.Asp1349Gly) c.1178A>G (p.Asp393Gly) | |
18 | g.33744062A>T | CA402190445 | ASXL3 | c.4217A>T (p.Asp1406Val) c.4214A>T (p.Asp1405Val) c.4094A>T (p.Asp1365Val) c.4190A>T (p.Asp1397Val) c.4136A>T (p.Asp1379Val) c.4097A>T (p.Asp1366Val) c.4046A>T (p.Asp1349Val) c.1178A>T (p.Asp393Val) | |
18 | g.33744062_33744064delinsACT | CA2294857973 | ASXL3 | c.4217_4219delinsACT (p.Asp1406=) c.4214_4216delinsACT (p.Asp1405=) c.4094_4096delinsACT (p.Asp1365=) c.4190_4192delinsACT (p.Asp1397=) c.4136_4138delinsACT (p.Asp1379=) c.4097_4099delinsACT (p.Asp1366=) c.4046_4048delinsACT (p.Asp1349=) c.1178_1180delinsACT (p.Asp393=) | |
18 | g.33744063C>A | CA402190446 | ASXL3 | c.4218C>A (p.Asp1406Glu) c.4215C>A (p.Asp1405Glu) c.4095C>A (p.Asp1365Glu) c.4191C>A (p.Asp1397Glu) c.4137C>A (p.Asp1379Glu) c.4098C>A (p.Asp1366Glu) c.4047C>A (p.Asp1349Glu) c.1179C>A (p.Asp393Glu) | |
18 | g.33744063C= | CA2294857974 | ASXL3 | c.4218C= (p.Asp1406=) c.4215C= (p.Asp1405=) c.4095C= (p.Asp1365=) c.4191C= (p.Asp1397=) c.4137C= (p.Asp1379=) c.4098C= (p.Asp1366=) c.4047C= (p.Asp1349=) c.1179C= (p.Asp393=) | |
18 | g.33744063C>G | CA402190447 | ASXL3 | c.4218C>G (p.Asp1406Glu) c.4215C>G (p.Asp1405Glu) c.4095C>G (p.Asp1365Glu) c.4191C>G (p.Asp1397Glu) c.4137C>G (p.Asp1379Glu) c.4098C>G (p.Asp1366Glu) c.4047C>G (p.Asp1349Glu) c.1179C>G (p.Asp393Glu) | dbSNP COSMIC |
18 | g.33744063C>T | CA503770236 | ASXL3 | c.4218C>T (p.Asp1406=) c.4215C>T (p.Asp1405=) c.4095C>T (p.Asp1365=) c.4191C>T (p.Asp1397=) c.4137C>T (p.Asp1379=) c.4098C>T (p.Asp1366=) c.4047C>T (p.Asp1349=) c.1179C>T (p.Asp393=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744067_33744068del | CA658799034 | ASXL3 | c.4222_4223del (p.Leu1408GlyfsTer20) c.4219_4220del (p.Leu1407GlyfsTer20) c.4099_4100del (p.Leu1367GlyfsTer20) c.4195_4196del (p.Leu1399GlyfsTer20) c.4141_4142del (p.Leu1381GlyfsTer20) c.4102_4103del (p.Leu1368GlyfsTer20) c.4051_4052del (p.Leu1351GlyfsTer20) c.1183_1184del (p.Leu395GlyfsTer20) | ClinVar dbSNP |
18 | g.33744064T>A | CA8934202 | ASXL3 | c.4219T>A (p.Ser1407Thr) c.4216T>A (p.Ser1406Thr) c.4096T>A (p.Ser1366Thr) c.4192T>A (p.Ser1398Thr) c.4138T>A (p.Ser1380Thr) c.4099T>A (p.Ser1367Thr) c.4048T>A (p.Ser1350Thr) c.1180T>A (p.Ser394Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744064T>C | CA402190448 | ASXL3 | c.4219T>C (p.Ser1407Pro) c.4216T>C (p.Ser1406Pro) c.4096T>C (p.Ser1366Pro) c.4192T>C (p.Ser1398Pro) c.4138T>C (p.Ser1380Pro) c.4099T>C (p.Ser1367Pro) c.4048T>C (p.Ser1350Pro) c.1180T>C (p.Ser394Pro) | dbSNP |
18 | g.33744064T>G | CA402190449 | ASXL3 | c.4219T>G (p.Ser1407Ala) c.4216T>G (p.Ser1406Ala) c.4096T>G (p.Ser1366Ala) c.4192T>G (p.Ser1398Ala) c.4138T>G (p.Ser1380Ala) c.4099T>G (p.Ser1367Ala) c.4048T>G (p.Ser1350Ala) c.1180T>G (p.Ser394Ala) | |
18 | g.33744064T= | CA2294857975 | ASXL3 | c.4219T= (p.Ser1407=) c.4216T= (p.Ser1406=) c.4096T= (p.Ser1366=) c.4192T= (p.Ser1398=) c.4138T= (p.Ser1380=) c.4099T= (p.Ser1367=) c.4048T= (p.Ser1350=) c.1180T= (p.Ser394=) | |
18 | g.33744065C>A | CA402190450 | ASXL3 | c.4220C>A (p.Ser1407Tyr) c.4217C>A (p.Ser1406Tyr) c.4097C>A (p.Ser1366Tyr) c.4193C>A (p.Ser1398Tyr) c.4139C>A (p.Ser1380Tyr) c.4100C>A (p.Ser1367Tyr) c.4049C>A (p.Ser1350Tyr) c.1181C>A (p.Ser394Tyr) | |
18 | g.33744065C= | CA2294857976 | ASXL3 | c.4220C= (p.Ser1407=) c.4217C= (p.Ser1406=) c.4097C= (p.Ser1366=) c.4193C= (p.Ser1398=) c.4139C= (p.Ser1380=) c.4100C= (p.Ser1367=) c.4049C= (p.Ser1350=) c.1181C= (p.Ser394=) | |
18 | g.33744065C>G | CA402190451 | ASXL3 | c.4220C>G (p.Ser1407Cys) c.4217C>G (p.Ser1406Cys) c.4097C>G (p.Ser1366Cys) c.4193C>G (p.Ser1398Cys) c.4139C>G (p.Ser1380Cys) c.4100C>G (p.Ser1367Cys) c.4049C>G (p.Ser1350Cys) c.1181C>G (p.Ser394Cys) | |
18 | g.33744065C>T | CA8934203 | ASXL3 | c.4220C>T (p.Ser1407Phe) c.4217C>T (p.Ser1406Phe) c.4097C>T (p.Ser1366Phe) c.4193C>T (p.Ser1398Phe) c.4139C>T (p.Ser1380Phe) c.4100C>T (p.Ser1367Phe) c.4049C>T (p.Ser1350Phe) c.1181C>T (p.Ser394Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744066T>A | CA503770245 | ASXL3 | c.4221T>A (p.Ser1407=) c.4218T>A (p.Ser1406=) c.4098T>A (p.Ser1366=) c.4194T>A (p.Ser1398=) c.4140T>A (p.Ser1380=) c.4101T>A (p.Ser1367=) c.4050T>A (p.Ser1350=) c.1182T>A (p.Ser394=) | |
18 | g.33744066T>C | CA503770248 | ASXL3 | c.4221T>C (p.Ser1407=) c.4218T>C (p.Ser1406=) c.4098T>C (p.Ser1366=) c.4194T>C (p.Ser1398=) c.4140T>C (p.Ser1380=) c.4101T>C (p.Ser1367=) c.4050T>C (p.Ser1350=) c.1182T>C (p.Ser394=) | |
18 | g.33744066T>G | CA503770249 | ASXL3 | c.4221T>G (p.Ser1407=) c.4218T>G (p.Ser1406=) c.4098T>G (p.Ser1366=) c.4194T>G (p.Ser1398=) c.4140T>G (p.Ser1380=) c.4101T>G (p.Ser1367=) c.4050T>G (p.Ser1350=) c.1182T>G (p.Ser394=) | |
18 | g.33744067C>A | CA402190452 | ASXL3 | c.4222C>A (p.Leu1408Met) c.4219C>A (p.Leu1407Met) c.4099C>A (p.Leu1367Met) c.4195C>A (p.Leu1399Met) c.4141C>A (p.Leu1381Met) c.4102C>A (p.Leu1368Met) c.4051C>A (p.Leu1351Met) c.1183C>A (p.Leu395Met) | gnomAD v4 |
18 | g.33744067C= | CA2294857977 | ASXL3 | c.4222C= (p.Leu1408=) c.4219C= (p.Leu1407=) c.4099C= (p.Leu1367=) c.4195C= (p.Leu1399=) c.4141C= (p.Leu1381=) c.4102C= (p.Leu1368=) c.4051C= (p.Leu1351=) c.1183C= (p.Leu395=) | |
18 | g.33744067C>G | CA402190453 | ASXL3 | c.4222C>G (p.Leu1408Val) c.4219C>G (p.Leu1407Val) c.4099C>G (p.Leu1367Val) c.4195C>G (p.Leu1399Val) c.4141C>G (p.Leu1381Val) c.4102C>G (p.Leu1368Val) c.4051C>G (p.Leu1351Val) c.1183C>G (p.Leu395Val) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744067C>T | CA503770257 | ASXL3 | c.4222C>T (p.Leu1408=) c.4219C>T (p.Leu1407=) c.4099C>T (p.Leu1367=) c.4195C>T (p.Leu1399=) c.4141C>T (p.Leu1381=) c.4102C>T (p.Leu1368=) c.4051C>T (p.Leu1351=) c.1183C>T (p.Leu395=) | dbSNP gnomAD v4 |
18 | g.33744068T>A | CA402190454 | ASXL3 | c.4223T>A (p.Leu1408Gln) c.4220T>A (p.Leu1407Gln) c.4100T>A (p.Leu1367Gln) c.4196T>A (p.Leu1399Gln) c.4142T>A (p.Leu1381Gln) c.4103T>A (p.Leu1368Gln) c.4052T>A (p.Leu1351Gln) c.1184T>A (p.Leu395Gln) | |
18 | g.33744068T>C | CA402190455 | ASXL3 | c.4223T>C (p.Leu1408Pro) c.4220T>C (p.Leu1407Pro) c.4100T>C (p.Leu1367Pro) c.4196T>C (p.Leu1399Pro) c.4142T>C (p.Leu1381Pro) c.4103T>C (p.Leu1368Pro) c.4052T>C (p.Leu1351Pro) c.1184T>C (p.Leu395Pro) | |
18 | g.33744068T>G | CA402190456 | ASXL3 | c.4223T>G (p.Leu1408Arg) c.4220T>G (p.Leu1407Arg) c.4100T>G (p.Leu1367Arg) c.4196T>G (p.Leu1399Arg) c.4142T>G (p.Leu1381Arg) c.4103T>G (p.Leu1368Arg) c.4052T>G (p.Leu1351Arg) c.1184T>G (p.Leu395Arg) | |
18 | g.33744069G>A | CA503770262 | ASXL3 | c.4224G>A (p.Leu1408=) c.4221G>A (p.Leu1407=) c.4101G>A (p.Leu1367=) c.4197G>A (p.Leu1399=) c.4143G>A (p.Leu1381=) c.4104G>A (p.Leu1368=) c.4053G>A (p.Leu1351=) c.1185G>A (p.Leu395=) | gnomAD v4 |
18 | g.33744069G>C | CA503770263 | ASXL3 | c.4224G>C (p.Leu1408=) c.4221G>C (p.Leu1407=) c.4101G>C (p.Leu1367=) c.4197G>C (p.Leu1399=) c.4143G>C (p.Leu1381=) c.4104G>C (p.Leu1368=) c.4053G>C (p.Leu1351=) c.1185G>C (p.Leu395=) | gnomAD v4 |
18 | g.33744069G>T | CA503770264 | ASXL3 | c.4224G>T (p.Leu1408=) c.4221G>T (p.Leu1407=) c.4101G>T (p.Leu1367=) c.4197G>T (p.Leu1399=) c.4143G>T (p.Leu1381=) c.4104G>T (p.Leu1368=) c.4053G>T (p.Leu1351=) c.1185G>T (p.Leu395=) | |
18 | g.33744070G>A | CA402190458 | ASXL3 | c.4225G>A (p.Val1409Ile) c.4222G>A (p.Val1408Ile) c.4102G>A (p.Val1368Ile) c.4198G>A (p.Val1400Ile) c.4144G>A (p.Val1382Ile) c.4105G>A (p.Val1369Ile) c.4054G>A (p.Val1352Ile) c.1186G>A (p.Val396Ile) | |
18 | g.33744070G>C | CA402190459 | ASXL3 | c.4225G>C (p.Val1409Leu) c.4222G>C (p.Val1408Leu) c.4102G>C (p.Val1368Leu) c.4198G>C (p.Val1400Leu) c.4144G>C (p.Val1382Leu) c.4105G>C (p.Val1369Leu) c.4054G>C (p.Val1352Leu) c.1186G>C (p.Val396Leu) | |
18 | g.33744070G>T | CA402190457 | ASXL3 | c.4225G>T (p.Val1409Phe) c.4222G>T (p.Val1408Phe) c.4102G>T (p.Val1368Phe) c.4198G>T (p.Val1400Phe) c.4144G>T (p.Val1382Phe) c.4105G>T (p.Val1369Phe) c.4054G>T (p.Val1352Phe) c.1186G>T (p.Val396Phe) | |
18 | g.33744071T>A | CA402190460 | ASXL3 | c.4226T>A (p.Val1409Asp) c.4223T>A (p.Val1408Asp) c.4103T>A (p.Val1368Asp) c.4199T>A (p.Val1400Asp) c.4145T>A (p.Val1382Asp) c.4106T>A (p.Val1369Asp) c.4055T>A (p.Val1352Asp) c.1187T>A (p.Val396Asp) | |
18 | g.33744071T>C | CA402190461 | ASXL3 | c.4226T>C (p.Val1409Ala) c.4223T>C (p.Val1408Ala) c.4103T>C (p.Val1368Ala) c.4199T>C (p.Val1400Ala) c.4145T>C (p.Val1382Ala) c.4106T>C (p.Val1369Ala) c.4055T>C (p.Val1352Ala) c.1187T>C (p.Val396Ala) | |
18 | g.33744071T>G | CA402190462 | ASXL3 | c.4226T>G (p.Val1409Gly) c.4223T>G (p.Val1408Gly) c.4103T>G (p.Val1368Gly) c.4199T>G (p.Val1400Gly) c.4145T>G (p.Val1382Gly) c.4106T>G (p.Val1369Gly) c.4055T>G (p.Val1352Gly) c.1187T>G (p.Val396Gly) | |
18 | g.33744072T>A | CA297793467 | ASXL3 | c.4227T>A (p.Val1409=) c.4224T>A (p.Val1408=) c.4104T>A (p.Val1368=) c.4200T>A (p.Val1400=) c.4146T>A (p.Val1382=) c.4107T>A (p.Val1369=) c.4056T>A (p.Val1352=) c.1188T>A (p.Val396=) | dbSNP gnomAD v4 |
18 | g.33744072T>C | CA503770274 | ASXL3 | c.4227T>C (p.Val1409=) c.4224T>C (p.Val1408=) c.4104T>C (p.Val1368=) c.4200T>C (p.Val1400=) c.4146T>C (p.Val1382=) c.4107T>C (p.Val1369=) c.4056T>C (p.Val1352=) c.1188T>C (p.Val396=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744072T>G | CA503770275 | ASXL3 | c.4227T>G (p.Val1409=) c.4224T>G (p.Val1408=) c.4104T>G (p.Val1368=) c.4200T>G (p.Val1400=) c.4146T>G (p.Val1382=) c.4107T>G (p.Val1369=) c.4056T>G (p.Val1352=) c.1188T>G (p.Val396=) | |
18 | g.33744072T= | CA2294857978 | ASXL3 | c.4227T= (p.Val1409=) c.4224T= (p.Val1408=) c.4104T= (p.Val1368=) c.4200T= (p.Val1400=) c.4146T= (p.Val1382=) c.4107T= (p.Val1369=) c.4056T= (p.Val1352=) c.1188T= (p.Val396=) | |
18 | g.33744073G>A | CA402190463 | ASXL3 | c.4228G>A (p.Ala1410Thr) c.4225G>A (p.Ala1409Thr) c.4105G>A (p.Ala1369Thr) c.4201G>A (p.Ala1401Thr) c.4147G>A (p.Ala1383Thr) c.4108G>A (p.Ala1370Thr) c.4057G>A (p.Ala1353Thr) c.1189G>A (p.Ala397Thr) | |
18 | g.33744073G>C | CA402190464 | ASXL3 | c.4228G>C (p.Ala1410Pro) c.4225G>C (p.Ala1409Pro) c.4105G>C (p.Ala1369Pro) c.4201G>C (p.Ala1401Pro) c.4147G>C (p.Ala1383Pro) c.4108G>C (p.Ala1370Pro) c.4057G>C (p.Ala1353Pro) c.1189G>C (p.Ala397Pro) | |
18 | g.33744073G>T | CA402190465 | ASXL3 | c.4228G>T (p.Ala1410Ser) c.4225G>T (p.Ala1409Ser) c.4105G>T (p.Ala1369Ser) c.4201G>T (p.Ala1401Ser) c.4147G>T (p.Ala1383Ser) c.4108G>T (p.Ala1370Ser) c.4057G>T (p.Ala1353Ser) c.1189G>T (p.Ala397Ser) | |
18 | g.33744074C>A | CA402190466 | ASXL3 | c.4229C>A (p.Ala1410Glu) c.4226C>A (p.Ala1409Glu) c.4106C>A (p.Ala1369Glu) c.4202C>A (p.Ala1401Glu) c.4148C>A (p.Ala1383Glu) c.4109C>A (p.Ala1370Glu) c.4058C>A (p.Ala1353Glu) c.1190C>A (p.Ala397Glu) | |
18 | g.33744074C>G | CA402190467 | ASXL3 | c.4229C>G (p.Ala1410Gly) c.4226C>G (p.Ala1409Gly) c.4106C>G (p.Ala1369Gly) c.4202C>G (p.Ala1401Gly) c.4148C>G (p.Ala1383Gly) c.4109C>G (p.Ala1370Gly) c.4058C>G (p.Ala1353Gly) c.1190C>G (p.Ala397Gly) | |
18 | g.33744074C>T | CA402190468 | ASXL3 | c.4229C>T (p.Ala1410Val) c.4226C>T (p.Ala1409Val) c.4106C>T (p.Ala1369Val) c.4202C>T (p.Ala1401Val) c.4148C>T (p.Ala1383Val) c.4109C>T (p.Ala1370Val) c.4058C>T (p.Ala1353Val) c.1190C>T (p.Ala397Val) | gnomAD v4 |
18 | g.33744075A= | CA2294857979 | ASXL3 | c.4230A= (p.Ala1410=) c.4227A= (p.Ala1409=) c.4107A= (p.Ala1369=) c.4203A= (p.Ala1401=) c.4149A= (p.Ala1383=) c.4110A= (p.Ala1370=) c.4059A= (p.Ala1353=) c.1191A= (p.Ala397=) | |
18 | g.33744075A>C | CA503770281 | ASXL3 | c.4230A>C (p.Ala1410=) c.4227A>C (p.Ala1409=) c.4107A>C (p.Ala1369=) c.4203A>C (p.Ala1401=) c.4149A>C (p.Ala1383=) c.4110A>C (p.Ala1370=) c.4059A>C (p.Ala1353=) c.1191A>C (p.Ala397=) | dbSNP |
18 | g.33744075A>G | CA8934204 | ASXL3 | c.4230A>G (p.Ala1410=) c.4227A>G (p.Ala1409=) c.4107A>G (p.Ala1369=) c.4203A>G (p.Ala1401=) c.4149A>G (p.Ala1383=) c.4110A>G (p.Ala1370=) c.4059A>G (p.Ala1353=) c.1191A>G (p.Ala397=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744075A>T | CA503770282 | ASXL3 | c.4230A>T (p.Ala1410=) c.4227A>T (p.Ala1409=) c.4107A>T (p.Ala1369=) c.4203A>T (p.Ala1401=) c.4149A>T (p.Ala1383=) c.4110A>T (p.Ala1370=) c.4059A>T (p.Ala1353=) c.1191A>T (p.Ala397=) | |
18 | g.33744076C>A | CA402190469 | ASXL3 | c.4231C>A (p.His1411Asn) c.4228C>A (p.His1410Asn) c.4108C>A (p.His1370Asn) c.4204C>A (p.His1402Asn) c.4150C>A (p.His1384Asn) c.4111C>A (p.His1371Asn) c.4060C>A (p.His1354Asn) c.1192C>A (p.His398Asn) | |
18 | g.33744076C= | CA2294857980 | ASXL3 | c.4231C= (p.His1411=) c.4228C= (p.His1410=) c.4108C= (p.His1370=) c.4204C= (p.His1402=) c.4150C= (p.His1384=) c.4111C= (p.His1371=) c.4060C= (p.His1354=) c.1192C= (p.His398=) | |
18 | g.33744076C>G | CA402190470 | ASXL3 | c.4231C>G (p.His1411Asp) c.4228C>G (p.His1410Asp) c.4108C>G (p.His1370Asp) c.4204C>G (p.His1402Asp) c.4150C>G (p.His1384Asp) c.4111C>G (p.His1371Asp) c.4060C>G (p.His1354Asp) c.1192C>G (p.His398Asp) | |
18 | g.33744076C>T | CA8934205 | ASXL3 | c.4231C>T (p.His1411Tyr) c.4228C>T (p.His1410Tyr) c.4108C>T (p.His1370Tyr) c.4204C>T (p.His1402Tyr) c.4150C>T (p.His1384Tyr) c.4111C>T (p.His1371Tyr) c.4060C>T (p.His1354Tyr) c.1192C>T (p.His398Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744077A>C | CA402190473 | ASXL3 | c.4232A>C (p.His1411Pro) c.4229A>C (p.His1410Pro) c.4109A>C (p.His1370Pro) c.4205A>C (p.His1402Pro) c.4151A>C (p.His1384Pro) c.4112A>C (p.His1371Pro) c.4061A>C (p.His1354Pro) c.1193A>C (p.His398Pro) | |
18 | g.33744077A>G | CA402190472 | ASXL3 | c.4232A>G (p.His1411Arg) c.4229A>G (p.His1410Arg) c.4109A>G (p.His1370Arg) c.4205A>G (p.His1402Arg) c.4151A>G (p.His1384Arg) c.4112A>G (p.His1371Arg) c.4061A>G (p.His1354Arg) c.1193A>G (p.His398Arg) | |
18 | g.33744077A>T | CA402190471 | ASXL3 | c.4232A>T (p.His1411Leu) c.4229A>T (p.His1410Leu) c.4109A>T (p.His1370Leu) c.4205A>T (p.His1402Leu) c.4151A>T (p.His1384Leu) c.4112A>T (p.His1371Leu) c.4061A>T (p.His1354Leu) c.1193A>T (p.His398Leu) | |
18 | g.33744078C>A | CA402190474 | ASXL3 | c.4233C>A (p.His1411Gln) c.4230C>A (p.His1410Gln) c.4110C>A (p.His1370Gln) c.4206C>A (p.His1402Gln) c.4152C>A (p.His1384Gln) c.4113C>A (p.His1371Gln) c.4062C>A (p.His1354Gln) c.1194C>A (p.His398Gln) | gnomAD v4 COSMIC |
18 | g.33744078C>G | CA402190475 | ASXL3 | c.4233C>G (p.His1411Gln) c.4230C>G (p.His1410Gln) c.4110C>G (p.His1370Gln) c.4206C>G (p.His1402Gln) c.4152C>G (p.His1384Gln) c.4113C>G (p.His1371Gln) c.4062C>G (p.His1354Gln) c.1194C>G (p.His398Gln) | |
18 | g.33744078C>T | CA503770286 | ASXL3 | c.4233C>T (p.His1411=) c.4230C>T (p.His1410=) c.4110C>T (p.His1370=) c.4206C>T (p.His1402=) c.4152C>T (p.His1384=) c.4113C>T (p.His1371=) c.4062C>T (p.His1354=) c.1194C>T (p.His398=) | |
18 | g.33744079C>A | CA402190476 | ASXL3 | c.4234C>A (p.Pro1412Thr) c.4231C>A (p.Pro1411Thr) c.4111C>A (p.Pro1371Thr) c.4207C>A (p.Pro1403Thr) c.4153C>A (p.Pro1385Thr) c.4114C>A (p.Pro1372Thr) c.4063C>A (p.Pro1355Thr) c.1195C>A (p.Pro399Thr) | |
18 | g.33744079C>G | CA402190477 | ASXL3 | c.4234C>G (p.Pro1412Ala) c.4231C>G (p.Pro1411Ala) c.4111C>G (p.Pro1371Ala) c.4207C>G (p.Pro1403Ala) c.4153C>G (p.Pro1385Ala) c.4114C>G (p.Pro1372Ala) c.4063C>G (p.Pro1355Ala) c.1195C>G (p.Pro399Ala) | |
18 | g.33744079C>T | CA402190478 | ASXL3 | c.4234C>T (p.Pro1412Ser) c.4231C>T (p.Pro1411Ser) c.4111C>T (p.Pro1371Ser) c.4207C>T (p.Pro1403Ser) c.4153C>T (p.Pro1385Ser) c.4114C>T (p.Pro1372Ser) c.4063C>T (p.Pro1355Ser) c.1195C>T (p.Pro399Ser) | |
18 | g.33744080C>A | CA402190479 | ASXL3 | c.4235C>A (p.Pro1412Gln) c.4232C>A (p.Pro1411Gln) c.4112C>A (p.Pro1371Gln) c.4208C>A (p.Pro1403Gln) c.4154C>A (p.Pro1385Gln) c.4115C>A (p.Pro1372Gln) c.4064C>A (p.Pro1355Gln) c.1196C>A (p.Pro399Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744080C= | CA2294857981 | ASXL3 | c.4235C= (p.Pro1412=) c.4232C= (p.Pro1411=) c.4112C= (p.Pro1371=) c.4208C= (p.Pro1403=) c.4154C= (p.Pro1385=) c.4115C= (p.Pro1372=) c.4064C= (p.Pro1355=) c.1196C= (p.Pro399=) | |
18 | g.33744080C>G | CA402190480 | ASXL3 | c.4235C>G (p.Pro1412Arg) c.4232C>G (p.Pro1411Arg) c.4112C>G (p.Pro1371Arg) c.4208C>G (p.Pro1403Arg) c.4154C>G (p.Pro1385Arg) c.4115C>G (p.Pro1372Arg) c.4064C>G (p.Pro1355Arg) c.1196C>G (p.Pro399Arg) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744080C>T | CA8934206 | ASXL3 | c.4235C>T (p.Pro1412Leu) c.4232C>T (p.Pro1411Leu) c.4112C>T (p.Pro1371Leu) c.4208C>T (p.Pro1403Leu) c.4154C>T (p.Pro1385Leu) c.4115C>T (p.Pro1372Leu) c.4064C>T (p.Pro1355Leu) c.1196C>T (p.Pro399Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
18 | g.33744081G>A | CA8934207 | ASXL3 | c.4236G>A (p.Pro1412=) c.4233G>A (p.Pro1411=) c.4113G>A (p.Pro1371=) c.4209G>A (p.Pro1403=) c.4155G>A (p.Pro1385=) c.4116G>A (p.Pro1372=) c.4065G>A (p.Pro1355=) c.1197G>A (p.Pro399=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744081G>C | CA503770291 | ASXL3 | c.4236G>C (p.Pro1412=) c.4233G>C (p.Pro1411=) c.4113G>C (p.Pro1371=) c.4209G>C (p.Pro1403=) c.4155G>C (p.Pro1385=) c.4116G>C (p.Pro1372=) c.4065G>C (p.Pro1355=) c.1197G>C (p.Pro399=) | |
18 | g.33744081G= | CA2294857982 | ASXL3 | c.4236G= (p.Pro1412=) c.4233G= (p.Pro1411=) c.4113G= (p.Pro1371=) c.4209G= (p.Pro1403=) c.4155G= (p.Pro1385=) c.4116G= (p.Pro1372=) c.4065G= (p.Pro1355=) c.1197G= (p.Pro399=) | |
18 | g.33744081G>T | CA503770294 | ASXL3 | c.4236G>T (p.Pro1412=) c.4233G>T (p.Pro1411=) c.4113G>T (p.Pro1371=) c.4209G>T (p.Pro1403=) c.4155G>T (p.Pro1385=) c.4116G>T (p.Pro1372=) c.4065G>T (p.Pro1355=) c.1197G>T (p.Pro399=) | gnomAD v4 |
18 | g.33744082A>C | CA402190481 | ASXL3 | c.4237A>C (p.Thr1413Pro) c.4234A>C (p.Thr1412Pro) c.4114A>C (p.Thr1372Pro) c.4210A>C (p.Thr1404Pro) c.4156A>C (p.Thr1386Pro) c.4117A>C (p.Thr1373Pro) c.4066A>C (p.Thr1356Pro) c.1198A>C (p.Thr400Pro) | |
18 | g.33744082A>G | CA402190482 | ASXL3 | c.4237A>G (p.Thr1413Ala) c.4234A>G (p.Thr1412Ala) c.4114A>G (p.Thr1372Ala) c.4210A>G (p.Thr1404Ala) c.4156A>G (p.Thr1386Ala) c.4117A>G (p.Thr1373Ala) c.4066A>G (p.Thr1356Ala) c.1198A>G (p.Thr400Ala) | |
18 | g.33744082A>T | CA402190483 | ASXL3 | c.4237A>T (p.Thr1413Ser) c.4234A>T (p.Thr1412Ser) c.4114A>T (p.Thr1372Ser) c.4210A>T (p.Thr1404Ser) c.4156A>T (p.Thr1386Ser) c.4117A>T (p.Thr1373Ser) c.4066A>T (p.Thr1356Ser) c.1198A>T (p.Thr400Ser) | |
18 | g.33744083C>A | CA402190486 | ASXL3 | c.4238C>A (p.Thr1413Asn) c.4235C>A (p.Thr1412Asn) c.4115C>A (p.Thr1372Asn) c.4211C>A (p.Thr1404Asn) c.4157C>A (p.Thr1386Asn) c.4118C>A (p.Thr1373Asn) c.4067C>A (p.Thr1356Asn) c.1199C>A (p.Thr400Asn) | dbSNP |
18 | g.33744083C= | CA2294857983 | ASXL3 | c.4238C= (p.Thr1413=) c.4235C= (p.Thr1412=) c.4115C= (p.Thr1372=) c.4211C= (p.Thr1404=) c.4157C= (p.Thr1386=) c.4118C= (p.Thr1373=) c.4067C= (p.Thr1356=) c.1199C= (p.Thr400=) | |
18 | g.33744083C>G | CA402190485 | ASXL3 | c.4238C>G (p.Thr1413Ser) c.4235C>G (p.Thr1412Ser) c.4115C>G (p.Thr1372Ser) c.4211C>G (p.Thr1404Ser) c.4157C>G (p.Thr1386Ser) c.4118C>G (p.Thr1373Ser) c.4067C>G (p.Thr1356Ser) c.1199C>G (p.Thr400Ser) | |
18 | g.33744083C>T | CA402190484 | ASXL3 | c.4238C>T (p.Thr1413Ile) c.4235C>T (p.Thr1412Ile) c.4115C>T (p.Thr1372Ile) c.4211C>T (p.Thr1404Ile) c.4157C>T (p.Thr1386Ile) c.4118C>T (p.Thr1373Ile) c.4067C>T (p.Thr1356Ile) c.1199C>T (p.Thr400Ile) | dbSNP |
18 | g.33744084C>A | CA503770298 | ASXL3 | c.4239C>A (p.Thr1413=) c.4236C>A (p.Thr1412=) c.4116C>A (p.Thr1372=) c.4212C>A (p.Thr1404=) c.4158C>A (p.Thr1386=) c.4119C>A (p.Thr1373=) c.4068C>A (p.Thr1356=) c.1200C>A (p.Thr400=) | |
18 | g.33744084C= | CA2294857984 | ASXL3 | c.4239C= (p.Thr1413=) c.4236C= (p.Thr1412=) c.4116C= (p.Thr1372=) c.4212C= (p.Thr1404=) c.4158C= (p.Thr1386=) c.4119C= (p.Thr1373=) c.4068C= (p.Thr1356=) c.1200C= (p.Thr400=) | |
18 | g.33744084C>G | CA8934209 | ASXL3 | c.4239C>G (p.Thr1413=) c.4236C>G (p.Thr1412=) c.4116C>G (p.Thr1372=) c.4212C>G (p.Thr1404=) c.4158C>G (p.Thr1386=) c.4119C>G (p.Thr1373=) c.4068C>G (p.Thr1356=) c.1200C>G (p.Thr400=) | dbSNP ExAC gnomAD v2 COSMIC |
18 | g.33744084C>T | CA8934208 | ASXL3 | c.4239C>T (p.Thr1413=) c.4236C>T (p.Thr1412=) c.4116C>T (p.Thr1372=) c.4212C>T (p.Thr1404=) c.4158C>T (p.Thr1386=) c.4119C>T (p.Thr1373=) c.4068C>T (p.Thr1356=) c.1200C>T (p.Thr400=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744085G>A | CA8934210 | ASXL3 | c.4240G>A (p.Val1414Ile) c.4237G>A (p.Val1413Ile) c.4117G>A (p.Val1373Ile) c.4213G>A (p.Val1405Ile) c.4159G>A (p.Val1387Ile) c.4120G>A (p.Val1374Ile) c.4069G>A (p.Val1357Ile) c.1201G>A (p.Val401Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744085G>C | CA402190488 | ASXL3 | c.4240G>C (p.Val1414Leu) c.4237G>C (p.Val1413Leu) c.4117G>C (p.Val1373Leu) c.4213G>C (p.Val1405Leu) c.4159G>C (p.Val1387Leu) c.4120G>C (p.Val1374Leu) c.4069G>C (p.Val1357Leu) c.1201G>C (p.Val401Leu) | |
18 | g.33744085G= | CA2294857985 | ASXL3 | c.4240G= (p.Val1414=) c.4237G= (p.Val1413=) c.4117G= (p.Val1373=) c.4213G= (p.Val1405=) c.4159G= (p.Val1387=) c.4120G= (p.Val1374=) c.4069G= (p.Val1357=) c.1201G= (p.Val401=) | |
18 | g.33744085G>T | CA402190487 | ASXL3 | c.4240G>T (p.Val1414Phe) c.4237G>T (p.Val1413Phe) c.4117G>T (p.Val1373Phe) c.4213G>T (p.Val1405Phe) c.4159G>T (p.Val1387Phe) c.4120G>T (p.Val1374Phe) c.4069G>T (p.Val1357Phe) c.1201G>T (p.Val401Phe) | |
18 | g.33744086T>A | CA402190489 | ASXL3 | c.4241T>A (p.Val1414Asp) c.4238T>A (p.Val1413Asp) c.4118T>A (p.Val1373Asp) c.4214T>A (p.Val1405Asp) c.4160T>A (p.Val1387Asp) c.4121T>A (p.Val1374Asp) c.4070T>A (p.Val1357Asp) c.1202T>A (p.Val401Asp) | |
18 | g.33744086T>C | CA402190490 | ASXL3 | c.4241T>C (p.Val1414Ala) c.4238T>C (p.Val1413Ala) c.4118T>C (p.Val1373Ala) c.4214T>C (p.Val1405Ala) c.4160T>C (p.Val1387Ala) c.4121T>C (p.Val1374Ala) c.4070T>C (p.Val1357Ala) c.1202T>C (p.Val401Ala) | dbSNP gnomAD v4 |
18 | g.33744086T>G | CA402190491 | ASXL3 | c.4241T>G (p.Val1414Gly) c.4238T>G (p.Val1413Gly) c.4118T>G (p.Val1373Gly) c.4214T>G (p.Val1405Gly) c.4160T>G (p.Val1387Gly) c.4121T>G (p.Val1374Gly) c.4070T>G (p.Val1357Gly) c.1202T>G (p.Val401Gly) | dbSNP |
18 | g.33744086T= | CA2294857986 | ASXL3 | c.4241T= (p.Val1414=) c.4238T= (p.Val1413=) c.4118T= (p.Val1373=) c.4214T= (p.Val1405=) c.4160T= (p.Val1387=) c.4121T= (p.Val1374=) c.4070T= (p.Val1357=) c.1202T= (p.Val401=) | |
18 | g.33744087C>A | CA503770306 | ASXL3 | c.4242C>A (p.Val1414=) c.4239C>A (p.Val1413=) c.4119C>A (p.Val1373=) c.4215C>A (p.Val1405=) c.4161C>A (p.Val1387=) c.4122C>A (p.Val1374=) c.4071C>A (p.Val1357=) c.1203C>A (p.Val401=) | |
18 | g.33744087C= | CA2294857987 | ASXL3 | c.4242C= (p.Val1414=) c.4239C= (p.Val1413=) c.4119C= (p.Val1373=) c.4215C= (p.Val1405=) c.4161C= (p.Val1387=) c.4122C= (p.Val1374=) c.4071C= (p.Val1357=) c.1203C= (p.Val401=) | |
18 | g.33744087C>G | CA503770308 | ASXL3 | c.4242C>G (p.Val1414=) c.4239C>G (p.Val1413=) c.4119C>G (p.Val1373=) c.4215C>G (p.Val1405=) c.4161C>G (p.Val1387=) c.4122C>G (p.Val1374=) c.4071C>G (p.Val1357=) c.1203C>G (p.Val401=) | dbSNP |
18 | g.33744087C>T | CA8934211 | ASXL3 | c.4242C>T (p.Val1414=) c.4239C>T (p.Val1413=) c.4119C>T (p.Val1373=) c.4215C>T (p.Val1405=) c.4161C>T (p.Val1387=) c.4122C>T (p.Val1374=) c.4071C>T (p.Val1357=) c.1203C>T (p.Val401=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744088G>A | CA8934212 | ASXL3 | c.4243G>A (p.Ala1415Thr) c.4240G>A (p.Ala1414Thr) c.4120G>A (p.Ala1374Thr) c.4216G>A (p.Ala1406Thr) c.4162G>A (p.Ala1388Thr) c.4123G>A (p.Ala1375Thr) c.4072G>A (p.Ala1358Thr) c.1204G>A (p.Ala402Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744088G>C | CA402190492 | ASXL3 | c.4243G>C (p.Ala1415Pro) c.4240G>C (p.Ala1414Pro) c.4120G>C (p.Ala1374Pro) c.4216G>C (p.Ala1406Pro) c.4162G>C (p.Ala1388Pro) c.4123G>C (p.Ala1375Pro) c.4072G>C (p.Ala1358Pro) c.1204G>C (p.Ala402Pro) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744088G= | CA2294857988 | ASXL3 | c.4243G= (p.Ala1415=) c.4240G= (p.Ala1414=) c.4120G= (p.Ala1374=) c.4216G= (p.Ala1406=) c.4162G= (p.Ala1388=) c.4123G= (p.Ala1375=) c.4072G= (p.Ala1358=) c.1204G= (p.Ala402=) | |
18 | g.33744088G>T | CA402190493 | ASXL3 | c.4243G>T (p.Ala1415Ser) c.4240G>T (p.Ala1414Ser) c.4120G>T (p.Ala1374Ser) c.4216G>T (p.Ala1406Ser) c.4162G>T (p.Ala1388Ser) c.4123G>T (p.Ala1375Ser) c.4072G>T (p.Ala1358Ser) c.1204G>T (p.Ala402Ser) | COSMIC |
18 | g.33744089C>A | CA402190494 | ASXL3 | c.4244C>A (p.Ala1415Glu) c.4241C>A (p.Ala1414Glu) c.4121C>A (p.Ala1374Glu) c.4217C>A (p.Ala1406Glu) c.4163C>A (p.Ala1388Glu) c.4124C>A (p.Ala1375Glu) c.4073C>A (p.Ala1358Glu) c.1205C>A (p.Ala402Glu) | |
18 | g.33744089C>G | CA402190495 | ASXL3 | c.4244C>G (p.Ala1415Gly) c.4241C>G (p.Ala1414Gly) c.4121C>G (p.Ala1374Gly) c.4217C>G (p.Ala1406Gly) c.4163C>G (p.Ala1388Gly) c.4124C>G (p.Ala1375Gly) c.4073C>G (p.Ala1358Gly) c.1205C>G (p.Ala402Gly) | |
18 | g.33744089C>T | CA402190496 | ASXL3 | c.4244C>T (p.Ala1415Val) c.4241C>T (p.Ala1414Val) c.4121C>T (p.Ala1374Val) c.4217C>T (p.Ala1406Val) c.4163C>T (p.Ala1388Val) c.4124C>T (p.Ala1375Val) c.4073C>T (p.Ala1358Val) c.1205C>T (p.Ala402Val) | COSMIC |
18 | g.33744090A= | CA2294857989 | ASXL3 | c.4245A= (p.Ala1415=) c.4242A= (p.Ala1414=) c.4122A= (p.Ala1374=) c.4218A= (p.Ala1406=) c.4164A= (p.Ala1388=) c.4125A= (p.Ala1375=) c.4074A= (p.Ala1358=) c.1206A= (p.Ala402=) | |
18 | g.33744090A>C | CA8934213 | ASXL3 | c.4245A>C (p.Ala1415=) c.4242A>C (p.Ala1414=) c.4122A>C (p.Ala1374=) c.4218A>C (p.Ala1406=) c.4164A>C (p.Ala1388=) c.4125A>C (p.Ala1375=) c.4074A>C (p.Ala1358=) c.1206A>C (p.Ala402=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744090A>G | CA503770314 | ASXL3 | c.4245A>G (p.Ala1415=) c.4242A>G (p.Ala1414=) c.4122A>G (p.Ala1374=) c.4218A>G (p.Ala1406=) c.4164A>G (p.Ala1388=) c.4125A>G (p.Ala1375=) c.4074A>G (p.Ala1358=) c.1206A>G (p.Ala402=) | |
18 | g.33744090A>T | CA503770318 | ASXL3 | c.4245A>T (p.Ala1415=) c.4242A>T (p.Ala1414=) c.4122A>T (p.Ala1374=) c.4218A>T (p.Ala1406=) c.4164A>T (p.Ala1388=) c.4125A>T (p.Ala1375=) c.4074A>T (p.Ala1358=) c.1206A>T (p.Ala402=) | |
18 | g.33744091A= | CA2294857990 | ASXL3 | c.4246A= (p.Met1416=) c.4243A= (p.Met1415=) c.4123A= (p.Met1375=) c.4219A= (p.Met1407=) c.4165A= (p.Met1389=) c.4126A= (p.Met1376=) c.4075A= (p.Met1359=) c.1207A= (p.Met403=) | |
18 | g.33744091A>C | CA402190498 | ASXL3 | c.4246A>C (p.Met1416Leu) c.4243A>C (p.Met1415Leu) c.4123A>C (p.Met1375Leu) c.4219A>C (p.Met1407Leu) c.4165A>C (p.Met1389Leu) c.4126A>C (p.Met1376Leu) c.4075A>C (p.Met1359Leu) c.1207A>C (p.Met403Leu) | |
18 | g.33744091A>G | CA8934214 | ASXL3 | c.4246A>G (p.Met1416Val) c.4243A>G (p.Met1415Val) c.4123A>G (p.Met1375Val) c.4219A>G (p.Met1407Val) c.4165A>G (p.Met1389Val) c.4126A>G (p.Met1376Val) c.4075A>G (p.Met1359Val) c.1207A>G (p.Met403Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744091A>T | CA402190497 | ASXL3 | c.4246A>T (p.Met1416Leu) c.4243A>T (p.Met1415Leu) c.4123A>T (p.Met1375Leu) c.4219A>T (p.Met1407Leu) c.4165A>T (p.Met1389Leu) c.4126A>T (p.Met1376Leu) c.4075A>T (p.Met1359Leu) c.1207A>T (p.Met403Leu) | |
18 | g.33744092T>A | CA402190499 | ASXL3 | c.4247T>A (p.Met1416Lys) c.4244T>A (p.Met1415Lys) c.4124T>A (p.Met1375Lys) c.4220T>A (p.Met1407Lys) c.4166T>A (p.Met1389Lys) c.4127T>A (p.Met1376Lys) c.4076T>A (p.Met1359Lys) c.1208T>A (p.Met403Lys) | |
18 | g.33744092T>C | CA402190500 | ASXL3 | c.4247T>C (p.Met1416Thr) c.4244T>C (p.Met1415Thr) c.4124T>C (p.Met1375Thr) c.4220T>C (p.Met1407Thr) c.4166T>C (p.Met1389Thr) c.4127T>C (p.Met1376Thr) c.4076T>C (p.Met1359Thr) c.1208T>C (p.Met403Thr) | |
18 | g.33744092T>G | CA8934215 | ASXL3 | c.4247T>G (p.Met1416Arg) c.4244T>G (p.Met1415Arg) c.4124T>G (p.Met1375Arg) c.4220T>G (p.Met1407Arg) c.4166T>G (p.Met1389Arg) c.4127T>G (p.Met1376Arg) c.4076T>G (p.Met1359Arg) c.1208T>G (p.Met403Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744092T= | CA2294857991 | ASXL3 | c.4247T= (p.Met1416=) c.4244T= (p.Met1415=) c.4124T= (p.Met1375=) c.4220T= (p.Met1407=) c.4166T= (p.Met1389=) c.4127T= (p.Met1376=) c.4076T= (p.Met1359=) c.1208T= (p.Met403=) | |
18 | g.33744093G>A | CA402190501 | ASXL3 | c.4248G>A (p.Met1416Ile) c.4245G>A (p.Met1415Ile) c.4125G>A (p.Met1375Ile) c.4221G>A (p.Met1407Ile) c.4167G>A (p.Met1389Ile) c.4128G>A (p.Met1376Ile) c.4077G>A (p.Met1359Ile) c.1209G>A (p.Met403Ile) | dbSNP |
18 | g.33744093G>C | CA402190502 | ASXL3 | c.4248G>C (p.Met1416Ile) c.4245G>C (p.Met1415Ile) c.4125G>C (p.Met1375Ile) c.4221G>C (p.Met1407Ile) c.4167G>C (p.Met1389Ile) c.4128G>C (p.Met1376Ile) c.4077G>C (p.Met1359Ile) c.1209G>C (p.Met403Ile) | |
18 | g.33744093G= | CA2294857992 | ASXL3 | c.4248G= (p.Met1416=) c.4245G= (p.Met1415=) c.4125G= (p.Met1375=) c.4221G= (p.Met1407=) c.4167G= (p.Met1389=) c.4128G= (p.Met1376=) c.4077G= (p.Met1359=) c.1209G= (p.Met403=) | |
18 | g.33744093G>T | CA402190503 | ASXL3 | c.4248G>T (p.Met1416Ile) c.4245G>T (p.Met1415Ile) c.4125G>T (p.Met1375Ile) c.4221G>T (p.Met1407Ile) c.4167G>T (p.Met1389Ile) c.4128G>T (p.Met1376Ile) c.4077G>T (p.Met1359Ile) c.1209G>T (p.Met403Ile) | |
18 | g.33744094T>A | CA402190504 | ASXL3 | c.4249T>A (p.Phe1417Ile) c.4246T>A (p.Phe1416Ile) c.4126T>A (p.Phe1376Ile) c.4222T>A (p.Phe1408Ile) c.4168T>A (p.Phe1390Ile) c.4129T>A (p.Phe1377Ile) c.4078T>A (p.Phe1360Ile) c.1210T>A (p.Phe404Ile) | |
18 | g.33744094T>C | CA402190505 | ASXL3 | c.4249T>C (p.Phe1417Leu) c.4246T>C (p.Phe1416Leu) c.4126T>C (p.Phe1376Leu) c.4222T>C (p.Phe1408Leu) c.4168T>C (p.Phe1390Leu) c.4129T>C (p.Phe1377Leu) c.4078T>C (p.Phe1360Leu) c.1210T>C (p.Phe404Leu) | |
18 | g.33744094T>G | CA402190506 | ASXL3 | c.4249T>G (p.Phe1417Val) c.4246T>G (p.Phe1416Val) c.4126T>G (p.Phe1376Val) c.4222T>G (p.Phe1408Val) c.4168T>G (p.Phe1390Val) c.4129T>G (p.Phe1377Val) c.4078T>G (p.Phe1360Val) c.1210T>G (p.Phe404Val) | |
18 | g.33744095T>A | CA402190507 | ASXL3 | c.4250T>A (p.Phe1417Tyr) c.4247T>A (p.Phe1416Tyr) c.4127T>A (p.Phe1376Tyr) c.4223T>A (p.Phe1408Tyr) c.4169T>A (p.Phe1390Tyr) c.4130T>A (p.Phe1377Tyr) c.4079T>A (p.Phe1360Tyr) c.1211T>A (p.Phe404Tyr) | |
18 | g.33744095T>C | CA402190508 | ASXL3 | c.4250T>C (p.Phe1417Ser) c.4247T>C (p.Phe1416Ser) c.4127T>C (p.Phe1376Ser) c.4223T>C (p.Phe1408Ser) c.4169T>C (p.Phe1390Ser) c.4130T>C (p.Phe1377Ser) c.4079T>C (p.Phe1360Ser) c.1211T>C (p.Phe404Ser) | |
18 | g.33744095T>G | CA402190509 | ASXL3 | c.4250T>G (p.Phe1417Cys) c.4247T>G (p.Phe1416Cys) c.4127T>G (p.Phe1376Cys) c.4223T>G (p.Phe1408Cys) c.4169T>G (p.Phe1390Cys) c.4130T>G (p.Phe1377Cys) c.4079T>G (p.Phe1360Cys) c.1211T>G (p.Phe404Cys) | |
18 | g.33744096T>A | CA402190511 | ASXL3 | c.4251T>A (p.Phe1417Leu) c.4248T>A (p.Phe1416Leu) c.4128T>A (p.Phe1376Leu) c.4224T>A (p.Phe1408Leu) c.4170T>A (p.Phe1390Leu) c.4131T>A (p.Phe1377Leu) c.4080T>A (p.Phe1360Leu) c.1212T>A (p.Phe404Leu) | |
18 | g.33744096T>C | CA503770327 | ASXL3 | c.4251T>C (p.Phe1417=) c.4248T>C (p.Phe1416=) c.4128T>C (p.Phe1376=) c.4224T>C (p.Phe1408=) c.4170T>C (p.Phe1390=) c.4131T>C (p.Phe1377=) c.4080T>C (p.Phe1360=) c.1212T>C (p.Phe404=) | |
18 | g.33744096T>G | CA402190510 | ASXL3 | c.4251T>G (p.Phe1417Leu) c.4248T>G (p.Phe1416Leu) c.4128T>G (p.Phe1376Leu) c.4224T>G (p.Phe1408Leu) c.4170T>G (p.Phe1390Leu) c.4131T>G (p.Phe1377Leu) c.4080T>G (p.Phe1360Leu) c.1212T>G (p.Phe404Leu) | |
18 | g.33744097A>C | CA402190512 | ASXL3 | c.4252A>C (p.Thr1418Pro) c.4249A>C (p.Thr1417Pro) c.4129A>C (p.Thr1377Pro) c.4225A>C (p.Thr1409Pro) c.4171A>C (p.Thr1391Pro) c.4132A>C (p.Thr1378Pro) c.4081A>C (p.Thr1361Pro) c.1213A>C (p.Thr405Pro) | |
18 | g.33744097A>G | CA402190513 | ASXL3 | c.4252A>G (p.Thr1418Ala) c.4249A>G (p.Thr1417Ala) c.4129A>G (p.Thr1377Ala) c.4225A>G (p.Thr1409Ala) c.4171A>G (p.Thr1391Ala) c.4132A>G (p.Thr1378Ala) c.4081A>G (p.Thr1361Ala) c.1213A>G (p.Thr405Ala) | |
18 | g.33744097A>T | CA402190514 | ASXL3 | c.4252A>T (p.Thr1418Ser) c.4249A>T (p.Thr1417Ser) c.4129A>T (p.Thr1377Ser) c.4225A>T (p.Thr1409Ser) c.4171A>T (p.Thr1391Ser) c.4132A>T (p.Thr1378Ser) c.4081A>T (p.Thr1361Ser) c.1213A>T (p.Thr405Ser) | |
18 | g.33744098C>A | CA402190515 | ASXL3 | c.4253C>A (p.Thr1418Asn) c.4250C>A (p.Thr1417Asn) c.4130C>A (p.Thr1377Asn) c.4226C>A (p.Thr1409Asn) c.4172C>A (p.Thr1391Asn) c.4133C>A (p.Thr1378Asn) c.4082C>A (p.Thr1361Asn) c.1214C>A (p.Thr405Asn) | |
18 | g.33744098C>G | CA402190516 | ASXL3 | c.4253C>G (p.Thr1418Ser) c.4250C>G (p.Thr1417Ser) c.4130C>G (p.Thr1377Ser) c.4226C>G (p.Thr1409Ser) c.4172C>G (p.Thr1391Ser) c.4133C>G (p.Thr1378Ser) c.4082C>G (p.Thr1361Ser) c.1214C>G (p.Thr405Ser) | |
18 | g.33744098C>T | CA402190517 | ASXL3 | c.4253C>T (p.Thr1418Ile) c.4250C>T (p.Thr1417Ile) c.4130C>T (p.Thr1377Ile) c.4226C>T (p.Thr1409Ile) c.4172C>T (p.Thr1391Ile) c.4133C>T (p.Thr1378Ile) c.4082C>T (p.Thr1361Ile) c.1214C>T (p.Thr405Ile) |