Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
18 | g.33744099T>A | CA503770335 | ASXL3 | c.4254T>A (p.Thr1418=) c.4251T>A (p.Thr1417=) c.4131T>A (p.Thr1377=) c.4227T>A (p.Thr1409=) c.4173T>A (p.Thr1391=) c.4134T>A (p.Thr1378=) c.4083T>A (p.Thr1361=) c.1215T>A (p.Thr405=) | |
18 | g.33744099T>C | CA503770337 | ASXL3 | c.4254T>C (p.Thr1418=) c.4251T>C (p.Thr1417=) c.4131T>C (p.Thr1377=) c.4227T>C (p.Thr1409=) c.4173T>C (p.Thr1391=) c.4134T>C (p.Thr1378=) c.4083T>C (p.Thr1361=) c.1215T>C (p.Thr405=) | |
18 | g.33744099T>G | CA503770339 | ASXL3 | c.4254T>G (p.Thr1418=) c.4251T>G (p.Thr1417=) c.4131T>G (p.Thr1377=) c.4227T>G (p.Thr1409=) c.4173T>G (p.Thr1391=) c.4134T>G (p.Thr1378=) c.4083T>G (p.Thr1361=) c.1215T>G (p.Thr405=) | |
18 | g.33744100G>A | CA402190518 | ASXL3 | c.4255G>A (p.Gly1419Arg) c.4252G>A (p.Gly1418Arg) c.4132G>A (p.Gly1378Arg) c.4228G>A (p.Gly1410Arg) c.4174G>A (p.Gly1392Arg) c.4135G>A (p.Gly1379Arg) c.4084G>A (p.Gly1362Arg) c.1216G>A (p.Gly406Arg) | |
18 | g.33744100G>C | CA402190519 | ASXL3 | c.4255G>C (p.Gly1419Arg) c.4252G>C (p.Gly1418Arg) c.4132G>C (p.Gly1378Arg) c.4228G>C (p.Gly1410Arg) c.4174G>C (p.Gly1392Arg) c.4135G>C (p.Gly1379Arg) c.4084G>C (p.Gly1362Arg) c.1216G>C (p.Gly406Arg) | |
18 | g.33744100G>T | CA402190520 | ASXL3 | c.4255G>T (p.Gly1419Ter) c.4252G>T (p.Gly1418Ter) c.4132G>T (p.Gly1378Ter) c.4228G>T (p.Gly1410Ter) c.4174G>T (p.Gly1392Ter) c.4135G>T (p.Gly1379Ter) c.4084G>T (p.Gly1362Ter) c.1216G>T (p.Gly406Ter) | |
18 | g.33744101G>A | CA297793499 | ASXL3 | c.4256G>A (p.Gly1419Glu) c.4253G>A (p.Gly1418Glu) c.4133G>A (p.Gly1378Glu) c.4229G>A (p.Gly1410Glu) c.4175G>A (p.Gly1392Glu) c.4136G>A (p.Gly1379Glu) c.4085G>A (p.Gly1362Glu) c.1217G>A (p.Gly406Glu) | dbSNP |
18 | g.33744101G>C | CA402190521 | ASXL3 | c.4256G>C (p.Gly1419Ala) c.4253G>C (p.Gly1418Ala) c.4133G>C (p.Gly1378Ala) c.4229G>C (p.Gly1410Ala) c.4175G>C (p.Gly1392Ala) c.4136G>C (p.Gly1379Ala) c.4085G>C (p.Gly1362Ala) c.1217G>C (p.Gly406Ala) | |
18 | g.33744101G= | CA2294857993 | ASXL3 | c.4256G= (p.Gly1419=) c.4253G= (p.Gly1418=) c.4133G= (p.Gly1378=) c.4229G= (p.Gly1410=) c.4175G= (p.Gly1392=) c.4136G= (p.Gly1379=) c.4085G= (p.Gly1362=) c.1217G= (p.Gly406=) | |
18 | g.33744101G>T | CA402190522 | ASXL3 | c.4256G>T (p.Gly1419Val) c.4253G>T (p.Gly1418Val) c.4133G>T (p.Gly1378Val) c.4229G>T (p.Gly1410Val) c.4175G>T (p.Gly1392Val) c.4136G>T (p.Gly1379Val) c.4085G>T (p.Gly1362Val) c.1217G>T (p.Gly406Val) | COSMIC |
18 | g.33744102A>C | CA503770345 | ASXL3 | c.4257A>C (p.Gly1419=) c.4254A>C (p.Gly1418=) c.4134A>C (p.Gly1378=) c.4230A>C (p.Gly1410=) c.4176A>C (p.Gly1392=) c.4137A>C (p.Gly1379=) c.4086A>C (p.Gly1362=) c.1218A>C (p.Gly406=) | |
18 | g.33744102A>G | CA503770346 | ASXL3 | c.4257A>G (p.Gly1419=) c.4254A>G (p.Gly1418=) c.4134A>G (p.Gly1378=) c.4230A>G (p.Gly1410=) c.4176A>G (p.Gly1392=) c.4137A>G (p.Gly1379=) c.4086A>G (p.Gly1362=) c.1218A>G (p.Gly406=) | |
18 | g.33744102A>T | CA503770347 | ASXL3 | c.4257A>T (p.Gly1419=) c.4254A>T (p.Gly1418=) c.4134A>T (p.Gly1378=) c.4230A>T (p.Gly1410=) c.4176A>T (p.Gly1392=) c.4137A>T (p.Gly1379=) c.4086A>T (p.Gly1362=) c.1218A>T (p.Gly406=) | |
18 | g.33744103_33744106dup | CA658824694 | ASXL3 | c.4258_4261dup (p.Met1421LysfsTer9) c.4255_4258dup (p.Met1420LysfsTer9) c.4135_4138dup (p.Met1380LysfsTer9) c.4231_4234dup (p.Met1412LysfsTer9) c.4177_4180dup (p.Met1394LysfsTer9) c.4138_4141dup (p.Met1381LysfsTer9) c.4087_4090dup (p.Met1364LysfsTer9) c.1219_1222dup (p.Met408LysfsTer9) | ClinVar dbSNP |
18 | g.33744103A>C | CA402190524 | ASXL3 | c.4258A>C (p.Asn1420His) c.4255A>C (p.Asn1419His) c.4135A>C (p.Asn1379His) c.4231A>C (p.Asn1411His) c.4177A>C (p.Asn1393His) c.4138A>C (p.Asn1380His) c.4087A>C (p.Asn1363His) c.1219A>C (p.Asn407His) | |
18 | g.33744103A>G | CA402190525 | ASXL3 | c.4258A>G (p.Asn1420Asp) c.4255A>G (p.Asn1419Asp) c.4135A>G (p.Asn1379Asp) c.4231A>G (p.Asn1411Asp) c.4177A>G (p.Asn1393Asp) c.4138A>G (p.Asn1380Asp) c.4087A>G (p.Asn1363Asp) c.1219A>G (p.Asn407Asp) | |
18 | g.33744103A>T | CA402190523 | ASXL3 | c.4258A>T (p.Asn1420Tyr) c.4255A>T (p.Asn1419Tyr) c.4135A>T (p.Asn1379Tyr) c.4231A>T (p.Asn1411Tyr) c.4177A>T (p.Asn1393Tyr) c.4138A>T (p.Asn1380Tyr) c.4087A>T (p.Asn1363Tyr) c.1219A>T (p.Asn407Tyr) | |
18 | g.33744104A= | CA2294857994 | ASXL3 | c.4259A= (p.Asn1420=) c.4256A= (p.Asn1419=) c.4136A= (p.Asn1379=) c.4232A= (p.Asn1411=) c.4178A= (p.Asn1393=) c.4139A= (p.Asn1380=) c.4088A= (p.Asn1363=) c.1220A= (p.Asn407=) | |
18 | g.33744104A>C | CA402190526 | ASXL3 | c.4259A>C (p.Asn1420Thr) c.4256A>C (p.Asn1419Thr) c.4136A>C (p.Asn1379Thr) c.4232A>C (p.Asn1411Thr) c.4178A>C (p.Asn1393Thr) c.4139A>C (p.Asn1380Thr) c.4088A>C (p.Asn1363Thr) c.1220A>C (p.Asn407Thr) | |
18 | g.33744104A>G | CA402190527 | ASXL3 | c.4259A>G (p.Asn1420Ser) c.4256A>G (p.Asn1419Ser) c.4136A>G (p.Asn1379Ser) c.4232A>G (p.Asn1411Ser) c.4178A>G (p.Asn1393Ser) c.4139A>G (p.Asn1380Ser) c.4088A>G (p.Asn1363Ser) c.1220A>G (p.Asn407Ser) | dbSNP |
18 | g.33744104A>T | CA402190528 | ASXL3 | c.4259A>T (p.Asn1420Ile) c.4256A>T (p.Asn1419Ile) c.4136A>T (p.Asn1379Ile) c.4232A>T (p.Asn1411Ile) c.4178A>T (p.Asn1393Ile) c.4139A>T (p.Asn1380Ile) c.4088A>T (p.Asn1363Ile) c.1220A>T (p.Asn407Ile) | |
18 | g.33744105C>A | CA402190529 | ASXL3 | c.4260C>A (p.Asn1420Lys) c.4257C>A (p.Asn1419Lys) c.4137C>A (p.Asn1379Lys) c.4233C>A (p.Asn1411Lys) c.4179C>A (p.Asn1393Lys) c.4140C>A (p.Asn1380Lys) c.4089C>A (p.Asn1363Lys) c.1221C>A (p.Asn407Lys) | |
18 | g.33744105C>G | CA402190530 | ASXL3 | c.4260C>G (p.Asn1420Lys) c.4257C>G (p.Asn1419Lys) c.4137C>G (p.Asn1379Lys) c.4233C>G (p.Asn1411Lys) c.4179C>G (p.Asn1393Lys) c.4140C>G (p.Asn1380Lys) c.4089C>G (p.Asn1363Lys) c.1221C>G (p.Asn407Lys) | |
18 | g.33744105C>T | CA503770357 | ASXL3 | c.4260C>T (p.Asn1420=) c.4257C>T (p.Asn1419=) c.4137C>T (p.Asn1379=) c.4233C>T (p.Asn1411=) c.4179C>T (p.Asn1393=) c.4140C>T (p.Asn1380=) c.4089C>T (p.Asn1363=) c.1221C>T (p.Asn407=) | |
18 | g.33744106A= | CA2294857995 | ASXL3 | c.4261A= (p.Met1421=) c.4258A= (p.Met1420=) c.4138A= (p.Met1380=) c.4234A= (p.Met1412=) c.4180A= (p.Met1394=) c.4141A= (p.Met1381=) c.4090A= (p.Met1364=) c.1222A= (p.Met408=) | |
18 | g.33744106A>C | CA8934216 | ASXL3 | c.4261A>C (p.Met1421Leu) c.4258A>C (p.Met1420Leu) c.4138A>C (p.Met1380Leu) c.4234A>C (p.Met1412Leu) c.4180A>C (p.Met1394Leu) c.4141A>C (p.Met1381Leu) c.4090A>C (p.Met1364Leu) c.1222A>C (p.Met408Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744106A>G | CA402190531 | ASXL3 | c.4261A>G (p.Met1421Val) c.4258A>G (p.Met1420Val) c.4138A>G (p.Met1380Val) c.4234A>G (p.Met1412Val) c.4180A>G (p.Met1394Val) c.4141A>G (p.Met1381Val) c.4090A>G (p.Met1364Val) c.1222A>G (p.Met408Val) | |
18 | g.33744106A>T | CA402190532 | ASXL3 | c.4261A>T (p.Met1421Leu) c.4258A>T (p.Met1420Leu) c.4138A>T (p.Met1380Leu) c.4234A>T (p.Met1412Leu) c.4180A>T (p.Met1394Leu) c.4141A>T (p.Met1381Leu) c.4090A>T (p.Met1364Leu) c.1222A>T (p.Met408Leu) | |
18 | g.33744107T>A | CA402190533 | ASXL3 | c.4262T>A (p.Met1421Lys) c.4259T>A (p.Met1420Lys) c.4139T>A (p.Met1380Lys) c.4235T>A (p.Met1412Lys) c.4181T>A (p.Met1394Lys) c.4142T>A (p.Met1381Lys) c.4091T>A (p.Met1364Lys) c.1223T>A (p.Met408Lys) | gnomAD v4 |
18 | g.33744107T>C | CA402190534 | ASXL3 | c.4262T>C (p.Met1421Thr) c.4259T>C (p.Met1420Thr) c.4139T>C (p.Met1380Thr) c.4235T>C (p.Met1412Thr) c.4181T>C (p.Met1394Thr) c.4142T>C (p.Met1381Thr) c.4091T>C (p.Met1364Thr) c.1223T>C (p.Met408Thr) | |
18 | g.33744107T>G | CA402190535 | ASXL3 | c.4262T>G (p.Met1421Arg) c.4259T>G (p.Met1420Arg) c.4139T>G (p.Met1380Arg) c.4235T>G (p.Met1412Arg) c.4181T>G (p.Met1394Arg) c.4142T>G (p.Met1381Arg) c.4091T>G (p.Met1364Arg) c.1223T>G (p.Met408Arg) | |
18 | g.33744108G>A | CA402190536 | ASXL3 | c.4263G>A (p.Met1421Ile) c.4260G>A (p.Met1420Ile) c.4140G>A (p.Met1380Ile) c.4236G>A (p.Met1412Ile) c.4182G>A (p.Met1394Ile) c.4143G>A (p.Met1381Ile) c.4092G>A (p.Met1364Ile) c.1224G>A (p.Met408Ile) | |
18 | g.33744108G>C | CA402190537 | ASXL3 | c.4263G>C (p.Met1421Ile) c.4260G>C (p.Met1420Ile) c.4140G>C (p.Met1380Ile) c.4236G>C (p.Met1412Ile) c.4182G>C (p.Met1394Ile) c.4143G>C (p.Met1381Ile) c.4092G>C (p.Met1364Ile) c.1224G>C (p.Met408Ile) | gnomAD v4 |
18 | g.33744108G>T | CA402190538 | ASXL3 | c.4263G>T (p.Met1421Ile) c.4260G>T (p.Met1420Ile) c.4140G>T (p.Met1380Ile) c.4236G>T (p.Met1412Ile) c.4182G>T (p.Met1394Ile) c.4143G>T (p.Met1381Ile) c.4092G>T (p.Met1364Ile) c.1224G>T (p.Met408Ile) | |
18 | g.33744109C>A | CA402190539 | ASXL3 | c.4264C>A (p.Leu1422Met) c.4261C>A (p.Leu1421Met) c.4141C>A (p.Leu1381Met) c.4237C>A (p.Leu1413Met) c.4183C>A (p.Leu1395Met) c.4144C>A (p.Leu1382Met) c.4093C>A (p.Leu1365Met) c.1225C>A (p.Leu409Met) | |
18 | g.33744109C= | CA2294857996 | ASXL3 | c.4264C= (p.Leu1422=) c.4261C= (p.Leu1421=) c.4141C= (p.Leu1381=) c.4237C= (p.Leu1413=) c.4183C= (p.Leu1395=) c.4144C= (p.Leu1382=) c.4093C= (p.Leu1365=) c.1225C= (p.Leu409=) | |
18 | g.33744109C>G | CA402190540 | ASXL3 | c.4264C>G (p.Leu1422Val) c.4261C>G (p.Leu1421Val) c.4141C>G (p.Leu1381Val) c.4237C>G (p.Leu1413Val) c.4183C>G (p.Leu1395Val) c.4144C>G (p.Leu1382Val) c.4093C>G (p.Leu1365Val) c.1225C>G (p.Leu409Val) | |
18 | g.33744109C>T | CA503770365 | ASXL3 | c.4264C>T (p.Leu1422=) c.4261C>T (p.Leu1421=) c.4141C>T (p.Leu1381=) c.4237C>T (p.Leu1413=) c.4183C>T (p.Leu1395=) c.4144C>T (p.Leu1382=) c.4093C>T (p.Leu1365=) c.1225C>T (p.Leu409=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744110T>A | CA402190541 | ASXL3 | c.4265T>A (p.Leu1422Gln) c.4262T>A (p.Leu1421Gln) c.4142T>A (p.Leu1381Gln) c.4238T>A (p.Leu1413Gln) c.4184T>A (p.Leu1395Gln) c.4145T>A (p.Leu1382Gln) c.4094T>A (p.Leu1365Gln) c.1226T>A (p.Leu409Gln) | |
18 | g.33744110T>C | CA402190543 | ASXL3 | c.4265T>C (p.Leu1422Pro) c.4262T>C (p.Leu1421Pro) c.4142T>C (p.Leu1381Pro) c.4238T>C (p.Leu1413Pro) c.4184T>C (p.Leu1395Pro) c.4145T>C (p.Leu1382Pro) c.4094T>C (p.Leu1365Pro) c.1226T>C (p.Leu409Pro) | |
18 | g.33744110T>G | CA402190542 | ASXL3 | c.4265T>G (p.Leu1422Arg) c.4262T>G (p.Leu1421Arg) c.4142T>G (p.Leu1381Arg) c.4238T>G (p.Leu1413Arg) c.4184T>G (p.Leu1395Arg) c.4145T>G (p.Leu1382Arg) c.4094T>G (p.Leu1365Arg) c.1226T>G (p.Leu409Arg) | |
18 | g.33744111G>A | CA8934217 | ASXL3 | c.4266G>A (p.Leu1422=) c.4263G>A (p.Leu1421=) c.4143G>A (p.Leu1381=) c.4239G>A (p.Leu1413=) c.4185G>A (p.Leu1395=) c.4146G>A (p.Leu1382=) c.4095G>A (p.Leu1365=) c.1227G>A (p.Leu409=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744111G>C | CA503770369 | ASXL3 | c.4266G>C (p.Leu1422=) c.4263G>C (p.Leu1421=) c.4143G>C (p.Leu1381=) c.4239G>C (p.Leu1413=) c.4185G>C (p.Leu1395=) c.4146G>C (p.Leu1382=) c.4095G>C (p.Leu1365=) c.1227G>C (p.Leu409=) | |
18 | g.33744111G= | CA2294857997 | ASXL3 | c.4266G= (p.Leu1422=) c.4263G= (p.Leu1421=) c.4143G= (p.Leu1381=) c.4239G= (p.Leu1413=) c.4185G= (p.Leu1395=) c.4146G= (p.Leu1382=) c.4095G= (p.Leu1365=) c.1227G= (p.Leu409=) | |
18 | g.33744111G>T | CA503770366 | ASXL3 | c.4266G>T (p.Leu1422=) c.4263G>T (p.Leu1421=) c.4143G>T (p.Leu1381=) c.4239G>T (p.Leu1413=) c.4185G>T (p.Leu1395=) c.4146G>T (p.Leu1382=) c.4095G>T (p.Leu1365=) c.1227G>T (p.Leu409=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744112A>C | CA402190544 | ASXL3 | c.4267A>C (p.Thr1423Pro) c.4264A>C (p.Thr1422Pro) c.4144A>C (p.Thr1382Pro) c.4240A>C (p.Thr1414Pro) c.4186A>C (p.Thr1396Pro) c.4147A>C (p.Thr1383Pro) c.4096A>C (p.Thr1366Pro) c.1228A>C (p.Thr410Pro) | |
18 | g.33744112A>G | CA402190545 | ASXL3 | c.4267A>G (p.Thr1423Ala) c.4264A>G (p.Thr1422Ala) c.4144A>G (p.Thr1382Ala) c.4240A>G (p.Thr1414Ala) c.4186A>G (p.Thr1396Ala) c.4147A>G (p.Thr1383Ala) c.4096A>G (p.Thr1366Ala) c.1228A>G (p.Thr410Ala) | |
18 | g.33744112A>T | CA402190546 | ASXL3 | c.4267A>T (p.Thr1423Ser) c.4264A>T (p.Thr1422Ser) c.4144A>T (p.Thr1382Ser) c.4240A>T (p.Thr1414Ser) c.4186A>T (p.Thr1396Ser) c.4147A>T (p.Thr1383Ser) c.4096A>T (p.Thr1366Ser) c.1228A>T (p.Thr410Ser) | |
18 | g.33744113C>A | CA8934218 | ASXL3 | c.4268C>A (p.Thr1423Lys) c.4265C>A (p.Thr1422Lys) c.4145C>A (p.Thr1382Lys) c.4241C>A (p.Thr1414Lys) c.4187C>A (p.Thr1396Lys) c.4148C>A (p.Thr1383Lys) c.4097C>A (p.Thr1366Lys) c.1229C>A (p.Thr410Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744113C= | CA2294857998 | ASXL3 | c.4268C= (p.Thr1423=) c.4265C= (p.Thr1422=) c.4145C= (p.Thr1382=) c.4241C= (p.Thr1414=) c.4187C= (p.Thr1396=) c.4148C= (p.Thr1383=) c.4097C= (p.Thr1366=) c.1229C= (p.Thr410=) | |
18 | g.33744113C>G | CA402190547 | ASXL3 | c.4268C>G (p.Thr1423Arg) c.4265C>G (p.Thr1422Arg) c.4145C>G (p.Thr1382Arg) c.4241C>G (p.Thr1414Arg) c.4187C>G (p.Thr1396Arg) c.4148C>G (p.Thr1383Arg) c.4097C>G (p.Thr1366Arg) c.1229C>G (p.Thr410Arg) | |
18 | g.33744113C>T | CA8934219 | ASXL3 | c.4268C>T (p.Thr1423Ile) c.4265C>T (p.Thr1422Ile) c.4145C>T (p.Thr1382Ile) c.4241C>T (p.Thr1414Ile) c.4187C>T (p.Thr1396Ile) c.4148C>T (p.Thr1383Ile) c.4097C>T (p.Thr1366Ile) c.1229C>T (p.Thr410Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744114A= | CA2294857999 | ASXL3 | c.4269A= (p.Thr1423=) c.4266A= (p.Thr1422=) c.4146A= (p.Thr1382=) c.4242A= (p.Thr1414=) c.4188A= (p.Thr1396=) c.4149A= (p.Thr1383=) c.4098A= (p.Thr1366=) c.1230A= (p.Thr410=) | |
18 | g.33744114A>C | CA503770374 | ASXL3 | c.4269A>C (p.Thr1423=) c.4266A>C (p.Thr1422=) c.4146A>C (p.Thr1382=) c.4242A>C (p.Thr1414=) c.4188A>C (p.Thr1396=) c.4149A>C (p.Thr1383=) c.4098A>C (p.Thr1366=) c.1230A>C (p.Thr410=) | |
18 | g.33744114A>G | CA8934220 | ASXL3 | c.4269A>G (p.Thr1423=) c.4266A>G (p.Thr1422=) c.4146A>G (p.Thr1382=) c.4242A>G (p.Thr1414=) c.4188A>G (p.Thr1396=) c.4149A>G (p.Thr1383=) c.4098A>G (p.Thr1366=) c.1230A>G (p.Thr410=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744114A>T | CA503770376 | ASXL3 | c.4269A>T (p.Thr1423=) c.4266A>T (p.Thr1422=) c.4146A>T (p.Thr1382=) c.4242A>T (p.Thr1414=) c.4188A>T (p.Thr1396=) c.4149A>T (p.Thr1383=) c.4098A>T (p.Thr1366=) c.1230A>T (p.Thr410=) | |
18 | g.33744115A>C | CA402190548 | ASXL3 | c.4270A>C (p.Ile1424Leu) c.4267A>C (p.Ile1423Leu) c.4147A>C (p.Ile1383Leu) c.4243A>C (p.Ile1415Leu) c.4189A>C (p.Ile1397Leu) c.4150A>C (p.Ile1384Leu) c.4099A>C (p.Ile1367Leu) c.1231A>C (p.Ile411Leu) | |
18 | g.33744115A>G | CA402190549 | ASXL3 | c.4270A>G (p.Ile1424Val) c.4267A>G (p.Ile1423Val) c.4147A>G (p.Ile1383Val) c.4243A>G (p.Ile1415Val) c.4189A>G (p.Ile1397Val) c.4150A>G (p.Ile1384Val) c.4099A>G (p.Ile1367Val) c.1231A>G (p.Ile411Val) | gnomAD v4 |
18 | g.33744115A>T | CA402190550 | ASXL3 | c.4270A>T (p.Ile1424Leu) c.4267A>T (p.Ile1423Leu) c.4147A>T (p.Ile1383Leu) c.4243A>T (p.Ile1415Leu) c.4189A>T (p.Ile1397Leu) c.4150A>T (p.Ile1384Leu) c.4099A>T (p.Ile1367Leu) c.1231A>T (p.Ile411Leu) | |
18 | g.33744116T>A | CA402190553 | ASXL3 | c.4271T>A (p.Ile1424Lys) c.4268T>A (p.Ile1423Lys) c.4148T>A (p.Ile1383Lys) c.4244T>A (p.Ile1415Lys) c.4190T>A (p.Ile1397Lys) c.4151T>A (p.Ile1384Lys) c.4100T>A (p.Ile1367Lys) c.1232T>A (p.Ile411Lys) | |
18 | g.33744116T>C | CA402190552 | ASXL3 | c.4271T>C (p.Ile1424Thr) c.4268T>C (p.Ile1423Thr) c.4148T>C (p.Ile1383Thr) c.4244T>C (p.Ile1415Thr) c.4190T>C (p.Ile1397Thr) c.4151T>C (p.Ile1384Thr) c.4100T>C (p.Ile1367Thr) c.1232T>C (p.Ile411Thr) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744116T>G | CA402190551 | ASXL3 | c.4271T>G (p.Ile1424Arg) c.4268T>G (p.Ile1423Arg) c.4148T>G (p.Ile1383Arg) c.4244T>G (p.Ile1415Arg) c.4190T>G (p.Ile1397Arg) c.4151T>G (p.Ile1384Arg) c.4100T>G (p.Ile1367Arg) c.1232T>G (p.Ile411Arg) | |
18 | g.33744116T= | CA2294858000 | ASXL3 | c.4271T= (p.Ile1424=) c.4268T= (p.Ile1423=) c.4148T= (p.Ile1383=) c.4244T= (p.Ile1415=) c.4190T= (p.Ile1397=) c.4151T= (p.Ile1384=) c.4100T= (p.Ile1367=) c.1232T= (p.Ile411=) | |
18 | g.33744117A>C | CA503770381 | ASXL3 | c.4272A>C (p.Ile1424=) c.4269A>C (p.Ile1423=) c.4149A>C (p.Ile1383=) c.4245A>C (p.Ile1415=) c.4191A>C (p.Ile1397=) c.4152A>C (p.Ile1384=) c.4101A>C (p.Ile1367=) c.1233A>C (p.Ile411=) | |
18 | g.33744117A>G | CA402190554 | ASXL3 | c.4272A>G (p.Ile1424Met) c.4269A>G (p.Ile1423Met) c.4149A>G (p.Ile1383Met) c.4245A>G (p.Ile1415Met) c.4191A>G (p.Ile1397Met) c.4152A>G (p.Ile1384Met) c.4101A>G (p.Ile1367Met) c.1233A>G (p.Ile411Met) | |
18 | g.33744117A>T | CA503770384 | ASXL3 | c.4272A>T (p.Ile1424=) c.4269A>T (p.Ile1423=) c.4149A>T (p.Ile1383=) c.4245A>T (p.Ile1415=) c.4191A>T (p.Ile1397=) c.4152A>T (p.Ile1384=) c.4101A>T (p.Ile1367=) c.1233A>T (p.Ile411=) | |
18 | g.33744118A>C | CA402190555 | ASXL3 | c.4273A>C (p.Asn1425His) c.4270A>C (p.Asn1424His) c.4150A>C (p.Asn1384His) c.4246A>C (p.Asn1416His) c.4192A>C (p.Asn1398His) c.4153A>C (p.Asn1385His) c.4102A>C (p.Asn1368His) c.1234A>C (p.Asn412His) | |
18 | g.33744118A>G | CA402190556 | ASXL3 | c.4273A>G (p.Asn1425Asp) c.4270A>G (p.Asn1424Asp) c.4150A>G (p.Asn1384Asp) c.4246A>G (p.Asn1416Asp) c.4192A>G (p.Asn1398Asp) c.4153A>G (p.Asn1385Asp) c.4102A>G (p.Asn1368Asp) c.1234A>G (p.Asn412Asp) | |
18 | g.33744118A>T | CA402190557 | ASXL3 | c.4273A>T (p.Asn1425Tyr) c.4270A>T (p.Asn1424Tyr) c.4150A>T (p.Asn1384Tyr) c.4246A>T (p.Asn1416Tyr) c.4192A>T (p.Asn1398Tyr) c.4153A>T (p.Asn1385Tyr) c.4102A>T (p.Asn1368Tyr) c.1234A>T (p.Asn412Tyr) | gnomAD v4 |
18 | g.33744119A>C | CA402190558 | ASXL3 | c.4274A>C (p.Asn1425Thr) c.4271A>C (p.Asn1424Thr) c.4151A>C (p.Asn1384Thr) c.4247A>C (p.Asn1416Thr) c.4193A>C (p.Asn1398Thr) c.4154A>C (p.Asn1385Thr) c.4103A>C (p.Asn1368Thr) c.1235A>C (p.Asn412Thr) | |
18 | g.33744119A>G | CA402190559 | ASXL3 | c.4274A>G (p.Asn1425Ser) c.4271A>G (p.Asn1424Ser) c.4151A>G (p.Asn1384Ser) c.4247A>G (p.Asn1416Ser) c.4193A>G (p.Asn1398Ser) c.4154A>G (p.Asn1385Ser) c.4103A>G (p.Asn1368Ser) c.1235A>G (p.Asn412Ser) | |
18 | g.33744119A>T | CA402190560 | ASXL3 | c.4274A>T (p.Asn1425Ile) c.4271A>T (p.Asn1424Ile) c.4151A>T (p.Asn1384Ile) c.4247A>T (p.Asn1416Ile) c.4193A>T (p.Asn1398Ile) c.4154A>T (p.Asn1385Ile) c.4103A>T (p.Asn1368Ile) c.1235A>T (p.Asn412Ile) | gnomAD v4 |
18 | g.33744120C>A | CA8934221 | ASXL3 | c.4275C>A (p.Asn1425Lys) c.4272C>A (p.Asn1424Lys) c.4152C>A (p.Asn1384Lys) c.4248C>A (p.Asn1416Lys) c.4194C>A (p.Asn1398Lys) c.4155C>A (p.Asn1385Lys) c.4104C>A (p.Asn1368Lys) c.1236C>A (p.Asn412Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
18 | g.33744120C= | CA2294858001 | ASXL3 | c.4275C= (p.Asn1425=) c.4272C= (p.Asn1424=) c.4152C= (p.Asn1384=) c.4248C= (p.Asn1416=) c.4194C= (p.Asn1398=) c.4155C= (p.Asn1385=) c.4104C= (p.Asn1368=) c.1236C= (p.Asn412=) | |
18 | g.33744120C>G | CA402190561 | ASXL3 | c.4275C>G (p.Asn1425Lys) c.4272C>G (p.Asn1424Lys) c.4152C>G (p.Asn1384Lys) c.4248C>G (p.Asn1416Lys) c.4194C>G (p.Asn1398Lys) c.4155C>G (p.Asn1385Lys) c.4104C>G (p.Asn1368Lys) c.1236C>G (p.Asn412Lys) | |
18 | g.33744120C>T | CA503770394 | ASXL3 | c.4275C>T (p.Asn1425=) c.4272C>T (p.Asn1424=) c.4152C>T (p.Asn1384=) c.4248C>T (p.Asn1416=) c.4194C>T (p.Asn1398=) c.4155C>T (p.Asn1385=) c.4104C>T (p.Asn1368=) c.1236C>T (p.Asn412=) | dbSNP |
18 | g.33744121T>A | CA402190562 | ASXL3 | c.4276T>A (p.Ser1426Thr) c.4273T>A (p.Ser1425Thr) c.4153T>A (p.Ser1385Thr) c.4249T>A (p.Ser1417Thr) c.4195T>A (p.Ser1399Thr) c.4156T>A (p.Ser1386Thr) c.4105T>A (p.Ser1369Thr) c.1237T>A (p.Ser413Thr) | |
18 | g.33744121T>C | CA8934222 | ASXL3 | c.4276T>C (p.Ser1426Pro) c.4273T>C (p.Ser1425Pro) c.4153T>C (p.Ser1385Pro) c.4249T>C (p.Ser1417Pro) c.4195T>C (p.Ser1399Pro) c.4156T>C (p.Ser1386Pro) c.4105T>C (p.Ser1369Pro) c.1237T>C (p.Ser413Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744121T>G | CA402190563 | ASXL3 | c.4276T>G (p.Ser1426Ala) c.4273T>G (p.Ser1425Ala) c.4153T>G (p.Ser1385Ala) c.4249T>G (p.Ser1417Ala) c.4195T>G (p.Ser1399Ala) c.4156T>G (p.Ser1386Ala) c.4105T>G (p.Ser1369Ala) c.1237T>G (p.Ser413Ala) | |
18 | g.33744121T= | CA2294858002 | ASXL3 | c.4276T= (p.Ser1426=) c.4273T= (p.Ser1425=) c.4153T= (p.Ser1385=) c.4249T= (p.Ser1417=) c.4195T= (p.Ser1399=) c.4156T= (p.Ser1386=) c.4105T= (p.Ser1369=) c.1237T= (p.Ser413=) | |
18 | g.33744122C>A | CA402190565 | ASXL3 | c.4277C>A (p.Ser1426Tyr) c.4274C>A (p.Ser1425Tyr) c.4154C>A (p.Ser1385Tyr) c.4250C>A (p.Ser1417Tyr) c.4196C>A (p.Ser1399Tyr) c.4157C>A (p.Ser1386Tyr) c.4106C>A (p.Ser1369Tyr) c.1238C>A (p.Ser413Tyr) | |
18 | g.33744122C= | CA2294858003 | ASXL3 | c.4277C= (p.Ser1426=) c.4274C= (p.Ser1425=) c.4154C= (p.Ser1385=) c.4250C= (p.Ser1417=) c.4196C= (p.Ser1399=) c.4157C= (p.Ser1386=) c.4106C= (p.Ser1369=) c.1238C= (p.Ser413=) | |
18 | g.33744122C>G | CA8934223 | ASXL3 | c.4277C>G (p.Ser1426Cys) c.4274C>G (p.Ser1425Cys) c.4154C>G (p.Ser1385Cys) c.4250C>G (p.Ser1417Cys) c.4196C>G (p.Ser1399Cys) c.4157C>G (p.Ser1386Cys) c.4106C>G (p.Ser1369Cys) c.1238C>G (p.Ser413Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744122C>T | CA402190564 | ASXL3 | c.4277C>T (p.Ser1426Phe) c.4274C>T (p.Ser1425Phe) c.4154C>T (p.Ser1385Phe) c.4250C>T (p.Ser1417Phe) c.4196C>T (p.Ser1399Phe) c.4157C>T (p.Ser1386Phe) c.4106C>T (p.Ser1369Phe) c.1238C>T (p.Ser413Phe) | |
18 | g.33744123T>A | CA503770401 | ASXL3 | c.4278T>A (p.Ser1426=) c.4275T>A (p.Ser1425=) c.4155T>A (p.Ser1385=) c.4251T>A (p.Ser1417=) c.4197T>A (p.Ser1399=) c.4158T>A (p.Ser1386=) c.4107T>A (p.Ser1369=) c.1239T>A (p.Ser413=) | |
18 | g.33744123T>C | CA8934224 | ASXL3 | c.4278T>C (p.Ser1426=) c.4275T>C (p.Ser1425=) c.4155T>C (p.Ser1385=) c.4251T>C (p.Ser1417=) c.4197T>C (p.Ser1399=) c.4158T>C (p.Ser1386=) c.4107T>C (p.Ser1369=) c.1239T>C (p.Ser413=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744123T>G | CA503770402 | ASXL3 | c.4278T>G (p.Ser1426=) c.4275T>G (p.Ser1425=) c.4155T>G (p.Ser1385=) c.4251T>G (p.Ser1417=) c.4197T>G (p.Ser1399=) c.4158T>G (p.Ser1386=) c.4107T>G (p.Ser1369=) c.1239T>G (p.Ser413=) | |
18 | g.33744123T= | CA2294858004 | ASXL3 | c.4278T= (p.Ser1426=) c.4275T= (p.Ser1425=) c.4155T= (p.Ser1385=) c.4251T= (p.Ser1417=) c.4197T= (p.Ser1399=) c.4158T= (p.Ser1386=) c.4107T= (p.Ser1369=) c.1239T= (p.Ser413=) | |
18 | g.33744124T>A | CA402190566 | ASXL3 | c.4279T>A (p.Tyr1427Asn) c.4276T>A (p.Tyr1426Asn) c.4156T>A (p.Tyr1386Asn) c.4252T>A (p.Tyr1418Asn) c.4198T>A (p.Tyr1400Asn) c.4159T>A (p.Tyr1387Asn) c.4108T>A (p.Tyr1370Asn) c.1240T>A (p.Tyr414Asn) | gnomAD v4 |
18 | g.33744124T>C | CA402190567 | ASXL3 | c.4279T>C (p.Tyr1427His) c.4276T>C (p.Tyr1426His) c.4156T>C (p.Tyr1386His) c.4252T>C (p.Tyr1418His) c.4198T>C (p.Tyr1400His) c.4159T>C (p.Tyr1387His) c.4108T>C (p.Tyr1370His) c.1240T>C (p.Tyr414His) | |
18 | g.33744124T>G | CA402190568 | ASXL3 | c.4279T>G (p.Tyr1427Asp) c.4276T>G (p.Tyr1426Asp) c.4156T>G (p.Tyr1386Asp) c.4252T>G (p.Tyr1418Asp) c.4198T>G (p.Tyr1400Asp) c.4159T>G (p.Tyr1387Asp) c.4108T>G (p.Tyr1370Asp) c.1240T>G (p.Tyr414Asp) | |
18 | g.33744124T= | CA2294858005 | ASXL3 | c.4279T= (p.Tyr1427=) c.4276T= (p.Tyr1426=) c.4156T= (p.Tyr1386=) c.4252T= (p.Tyr1418=) c.4198T= (p.Tyr1400=) c.4159T= (p.Tyr1387=) c.4108T= (p.Tyr1370=) c.1240T= (p.Tyr414=) | |
18 | g.33744125A>C | CA402190569 | ASXL3 | c.4280A>C (p.Tyr1427Ser) c.4277A>C (p.Tyr1426Ser) c.4157A>C (p.Tyr1386Ser) c.4253A>C (p.Tyr1418Ser) c.4199A>C (p.Tyr1400Ser) c.4160A>C (p.Tyr1387Ser) c.4109A>C (p.Tyr1370Ser) c.1241A>C (p.Tyr414Ser) | |
18 | g.33744125A>G | CA402190570 | ASXL3 | c.4280A>G (p.Tyr1427Cys) c.4277A>G (p.Tyr1426Cys) c.4157A>G (p.Tyr1386Cys) c.4253A>G (p.Tyr1418Cys) c.4199A>G (p.Tyr1400Cys) c.4160A>G (p.Tyr1387Cys) c.4109A>G (p.Tyr1370Cys) c.1241A>G (p.Tyr414Cys) | |
18 | g.33744125A>T | CA402190571 | ASXL3 | c.4280A>T (p.Tyr1427Phe) c.4277A>T (p.Tyr1426Phe) c.4157A>T (p.Tyr1386Phe) c.4253A>T (p.Tyr1418Phe) c.4199A>T (p.Tyr1400Phe) c.4160A>T (p.Tyr1387Phe) c.4109A>T (p.Tyr1370Phe) c.1241A>T (p.Tyr414Phe) | |
18 | g.33744125dup | CA629454137 | ASXL3 | c.4280dup (p.Tyr1427Ter) c.4277dup (p.Tyr1426Ter) c.4157dup (p.Tyr1386Ter) c.4253dup (p.Tyr1418Ter) c.4199dup (p.Tyr1400Ter) c.4160dup (p.Tyr1387Ter) c.4109dup (p.Tyr1370Ter) c.1241dup (p.Tyr414Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744126T>A | CA402190572 | ASXL3 | c.4281T>A (p.Tyr1427Ter) c.4278T>A (p.Tyr1426Ter) c.4158T>A (p.Tyr1386Ter) c.4254T>A (p.Tyr1418Ter) c.4200T>A (p.Tyr1400Ter) c.4161T>A (p.Tyr1387Ter) c.4110T>A (p.Tyr1370Ter) c.1242T>A (p.Tyr414Ter) | |
18 | g.33744126T>C | CA503770411 | ASXL3 | c.4281T>C (p.Tyr1427=) c.4278T>C (p.Tyr1426=) c.4158T>C (p.Tyr1386=) c.4254T>C (p.Tyr1418=) c.4200T>C (p.Tyr1400=) c.4161T>C (p.Tyr1387=) c.4110T>C (p.Tyr1370=) c.1242T>C (p.Tyr414=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744126T>G | CA402190573 | ASXL3 | c.4281T>G (p.Tyr1427Ter) c.4278T>G (p.Tyr1426Ter) c.4158T>G (p.Tyr1386Ter) c.4254T>G (p.Tyr1418Ter) c.4200T>G (p.Tyr1400Ter) c.4161T>G (p.Tyr1387Ter) c.4110T>G (p.Tyr1370Ter) c.1242T>G (p.Tyr414Ter) | |
18 | g.33744126T= | CA2294858006 | ASXL3 | c.4281T= (p.Tyr1427=) c.4278T= (p.Tyr1426=) c.4158T= (p.Tyr1386=) c.4254T= (p.Tyr1418=) c.4200T= (p.Tyr1400=) c.4161T= (p.Tyr1387=) c.4110T= (p.Tyr1370=) c.1242T= (p.Tyr414=) | |
18 | g.33744127G>A | CA8934225 | ASXL3 | c.4282G>A (p.Asp1428Asn) c.4279G>A (p.Asp1427Asn) c.4159G>A (p.Asp1387Asn) c.4255G>A (p.Asp1419Asn) c.4201G>A (p.Asp1401Asn) c.4162G>A (p.Asp1388Asn) c.4111G>A (p.Asp1371Asn) c.1243G>A (p.Asp415Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744127G>C | CA402190574 | ASXL3 | c.4282G>C (p.Asp1428His) c.4279G>C (p.Asp1427His) c.4159G>C (p.Asp1387His) c.4255G>C (p.Asp1419His) c.4201G>C (p.Asp1401His) c.4162G>C (p.Asp1388His) c.4111G>C (p.Asp1371His) c.1243G>C (p.Asp415His) | |
18 | g.33744127G= | CA2294858007 | ASXL3 | c.4282G= (p.Asp1428=) c.4279G= (p.Asp1427=) c.4159G= (p.Asp1387=) c.4255G= (p.Asp1419=) c.4201G= (p.Asp1401=) c.4162G= (p.Asp1388=) c.4111G= (p.Asp1371=) c.1243G= (p.Asp415=) | |
18 | g.33744127G>T | CA402190575 | ASXL3 | c.4282G>T (p.Asp1428Tyr) c.4279G>T (p.Asp1427Tyr) c.4159G>T (p.Asp1387Tyr) c.4255G>T (p.Asp1419Tyr) c.4201G>T (p.Asp1401Tyr) c.4162G>T (p.Asp1388Tyr) c.4111G>T (p.Asp1371Tyr) c.1243G>T (p.Asp415Tyr) | |
18 | g.33744128A>C | CA402190577 | ASXL3 | c.4283A>C (p.Asp1428Ala) c.4280A>C (p.Asp1427Ala) c.4160A>C (p.Asp1387Ala) c.4256A>C (p.Asp1419Ala) c.4202A>C (p.Asp1401Ala) c.4163A>C (p.Asp1388Ala) c.4112A>C (p.Asp1371Ala) c.1244A>C (p.Asp415Ala) | gnomAD v4 |
18 | g.33744128A>G | CA402190578 | ASXL3 | c.4283A>G (p.Asp1428Gly) c.4280A>G (p.Asp1427Gly) c.4160A>G (p.Asp1387Gly) c.4256A>G (p.Asp1419Gly) c.4202A>G (p.Asp1401Gly) c.4163A>G (p.Asp1388Gly) c.4112A>G (p.Asp1371Gly) c.1244A>G (p.Asp415Gly) | gnomAD v4 |
18 | g.33744128A>T | CA402190576 | ASXL3 | c.4283A>T (p.Asp1428Val) c.4280A>T (p.Asp1427Val) c.4160A>T (p.Asp1387Val) c.4256A>T (p.Asp1419Val) c.4202A>T (p.Asp1401Val) c.4163A>T (p.Asp1388Val) c.4112A>T (p.Asp1371Val) c.1244A>T (p.Asp415Val) | |
18 | g.33744129T>A | CA402190579 | ASXL3 | c.4284T>A (p.Asp1428Glu) c.4281T>A (p.Asp1427Glu) c.4161T>A (p.Asp1387Glu) c.4257T>A (p.Asp1419Glu) c.4203T>A (p.Asp1401Glu) c.4164T>A (p.Asp1388Glu) c.4113T>A (p.Asp1371Glu) c.1245T>A (p.Asp415Glu) | |
18 | g.33744129T>C | CA503770414 | ASXL3 | c.4284T>C (p.Asp1428=) c.4281T>C (p.Asp1427=) c.4161T>C (p.Asp1387=) c.4257T>C (p.Asp1419=) c.4203T>C (p.Asp1401=) c.4164T>C (p.Asp1388=) c.4113T>C (p.Asp1371=) c.1245T>C (p.Asp415=) | gnomAD v4 |
18 | g.33744129T>G | CA402190580 | ASXL3 | c.4284T>G (p.Asp1428Glu) c.4281T>G (p.Asp1427Glu) c.4161T>G (p.Asp1387Glu) c.4257T>G (p.Asp1419Glu) c.4203T>G (p.Asp1401Glu) c.4164T>G (p.Asp1388Glu) c.4113T>G (p.Asp1371Glu) c.1245T>G (p.Asp415Glu) | |
18 | g.33744130A= | CA2294858008 | ASXL3 | c.4285A= (p.Ser1429=) c.4282A= (p.Ser1428=) c.4162A= (p.Ser1388=) c.4258A= (p.Ser1420=) c.4204A= (p.Ser1402=) c.4165A= (p.Ser1389=) c.4114A= (p.Ser1372=) c.1246A= (p.Ser416=) | |
18 | g.33744130A>C | CA402190581 | ASXL3 | c.4285A>C (p.Ser1429Arg) c.4282A>C (p.Ser1428Arg) c.4162A>C (p.Ser1388Arg) c.4258A>C (p.Ser1420Arg) c.4204A>C (p.Ser1402Arg) c.4165A>C (p.Ser1389Arg) c.4114A>C (p.Ser1372Arg) c.1246A>C (p.Ser416Arg) | |
18 | g.33744130A>G | CA8934226 | ASXL3 | c.4285A>G (p.Ser1429Gly) c.4282A>G (p.Ser1428Gly) c.4162A>G (p.Ser1388Gly) c.4258A>G (p.Ser1420Gly) c.4204A>G (p.Ser1402Gly) c.4165A>G (p.Ser1389Gly) c.4114A>G (p.Ser1372Gly) c.1246A>G (p.Ser416Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744130A>T | CA402190582 | ASXL3 | c.4285A>T (p.Ser1429Cys) c.4282A>T (p.Ser1428Cys) c.4162A>T (p.Ser1388Cys) c.4258A>T (p.Ser1420Cys) c.4204A>T (p.Ser1402Cys) c.4165A>T (p.Ser1389Cys) c.4114A>T (p.Ser1372Cys) c.1246A>T (p.Ser416Cys) | |
18 | g.33744131G>A | CA8934227 | ASXL3 | c.4286G>A (p.Ser1429Asn) c.4283G>A (p.Ser1428Asn) c.4163G>A (p.Ser1388Asn) c.4259G>A (p.Ser1420Asn) c.4205G>A (p.Ser1402Asn) c.4166G>A (p.Ser1389Asn) c.4115G>A (p.Ser1372Asn) c.1247G>A (p.Ser416Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744131G>C | CA402190583 | ASXL3 | c.4286G>C (p.Ser1429Thr) c.4283G>C (p.Ser1428Thr) c.4163G>C (p.Ser1388Thr) c.4259G>C (p.Ser1420Thr) c.4205G>C (p.Ser1402Thr) c.4166G>C (p.Ser1389Thr) c.4115G>C (p.Ser1372Thr) c.1247G>C (p.Ser416Thr) | |
18 | g.33744131G= | CA2294858009 | ASXL3 | c.4286G= (p.Ser1429=) c.4283G= (p.Ser1428=) c.4163G= (p.Ser1388=) c.4259G= (p.Ser1420=) c.4205G= (p.Ser1402=) c.4166G= (p.Ser1389=) c.4115G= (p.Ser1372=) c.1247G= (p.Ser416=) | |
18 | g.33744131G>T | CA8934228 | ASXL3 | c.4286G>T (p.Ser1429Ile) c.4283G>T (p.Ser1428Ile) c.4163G>T (p.Ser1388Ile) c.4259G>T (p.Ser1420Ile) c.4205G>T (p.Ser1402Ile) c.4166G>T (p.Ser1389Ile) c.4115G>T (p.Ser1372Ile) c.1247G>T (p.Ser416Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744132T>A | CA402190584 | ASXL3 | c.4287T>A (p.Ser1429Arg) c.4284T>A (p.Ser1428Arg) c.4164T>A (p.Ser1388Arg) c.4260T>A (p.Ser1420Arg) c.4206T>A (p.Ser1402Arg) c.4167T>A (p.Ser1389Arg) c.4116T>A (p.Ser1372Arg) c.1248T>A (p.Ser416Arg) | |
18 | g.33744132T>C | CA503770421 | ASXL3 | c.4287T>C (p.Ser1429=) c.4284T>C (p.Ser1428=) c.4164T>C (p.Ser1388=) c.4260T>C (p.Ser1420=) c.4206T>C (p.Ser1402=) c.4167T>C (p.Ser1389=) c.4116T>C (p.Ser1372=) c.1248T>C (p.Ser416=) | |
18 | g.33744132T>G | CA402190585 | ASXL3 | c.4287T>G (p.Ser1429Arg) c.4284T>G (p.Ser1428Arg) c.4164T>G (p.Ser1388Arg) c.4260T>G (p.Ser1420Arg) c.4206T>G (p.Ser1402Arg) c.4167T>G (p.Ser1389Arg) c.4116T>G (p.Ser1372Arg) c.1248T>G (p.Ser416Arg) | |
18 | g.33744133C>A | CA402190586 | ASXL3 | c.4288C>A (p.Pro1430Thr) c.4285C>A (p.Pro1429Thr) c.4165C>A (p.Pro1389Thr) c.4261C>A (p.Pro1421Thr) c.4207C>A (p.Pro1403Thr) c.4168C>A (p.Pro1390Thr) c.4117C>A (p.Pro1373Thr) c.1249C>A (p.Pro417Thr) | gnomAD v4 COSMIC |
18 | g.33744133C= | CA2294858010 | ASXL3 | c.4288C= (p.Pro1430=) c.4285C= (p.Pro1429=) c.4165C= (p.Pro1389=) c.4261C= (p.Pro1421=) c.4207C= (p.Pro1403=) c.4168C= (p.Pro1390=) c.4117C= (p.Pro1373=) c.1249C= (p.Pro417=) | |
18 | g.33744133C>G | CA402190587 | ASXL3 | c.4288C>G (p.Pro1430Ala) c.4285C>G (p.Pro1429Ala) c.4165C>G (p.Pro1389Ala) c.4261C>G (p.Pro1421Ala) c.4207C>G (p.Pro1403Ala) c.4168C>G (p.Pro1390Ala) c.4117C>G (p.Pro1373Ala) c.1249C>G (p.Pro417Ala) | |
18 | g.33744133C>T | CA8934229 | ASXL3 | c.4288C>T (p.Pro1430Ser) c.4285C>T (p.Pro1429Ser) c.4165C>T (p.Pro1389Ser) c.4261C>T (p.Pro1421Ser) c.4207C>T (p.Pro1403Ser) c.4168C>T (p.Pro1390Ser) c.4117C>T (p.Pro1373Ser) c.1249C>T (p.Pro417Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744134C>A | CA402190589 | ASXL3 | c.4289C>A (p.Pro1430His) c.4286C>A (p.Pro1429His) c.4166C>A (p.Pro1389His) c.4262C>A (p.Pro1421His) c.4208C>A (p.Pro1403His) c.4169C>A (p.Pro1390His) c.4118C>A (p.Pro1373His) c.1250C>A (p.Pro417His) | |
18 | g.33744134C= | CA2294858011 | ASXL3 | c.4289C= (p.Pro1430=) c.4286C= (p.Pro1429=) c.4166C= (p.Pro1389=) c.4262C= (p.Pro1421=) c.4208C= (p.Pro1403=) c.4169C= (p.Pro1390=) c.4118C= (p.Pro1373=) c.1250C= (p.Pro417=) | |
18 | g.33744134C>G | CA402190588 | ASXL3 | c.4289C>G (p.Pro1430Arg) c.4286C>G (p.Pro1429Arg) c.4166C>G (p.Pro1389Arg) c.4262C>G (p.Pro1421Arg) c.4208C>G (p.Pro1403Arg) c.4169C>G (p.Pro1390Arg) c.4118C>G (p.Pro1373Arg) c.1250C>G (p.Pro417Arg) | |
18 | g.33744134C>T | CA8934230 | ASXL3 | c.4289C>T (p.Pro1430Leu) c.4286C>T (p.Pro1429Leu) c.4166C>T (p.Pro1389Leu) c.4262C>T (p.Pro1421Leu) c.4208C>T (p.Pro1403Leu) c.4169C>T (p.Pro1390Leu) c.4118C>T (p.Pro1373Leu) c.1250C>T (p.Pro417Leu) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
18 | g.33744135T>A | CA503770431 | ASXL3 | c.4290T>A (p.Pro1430=) c.4287T>A (p.Pro1429=) c.4167T>A (p.Pro1389=) c.4263T>A (p.Pro1421=) c.4209T>A (p.Pro1403=) c.4170T>A (p.Pro1390=) c.4119T>A (p.Pro1373=) c.1251T>A (p.Pro417=) | |
18 | g.33744135T>C | CA503770432 | ASXL3 | c.4290T>C (p.Pro1430=) c.4287T>C (p.Pro1429=) c.4167T>C (p.Pro1389=) c.4263T>C (p.Pro1421=) c.4209T>C (p.Pro1403=) c.4170T>C (p.Pro1390=) c.4119T>C (p.Pro1373=) c.1251T>C (p.Pro417=) | |
18 | g.33744135T>G | CA503770433 | ASXL3 | c.4290T>G (p.Pro1430=) c.4287T>G (p.Pro1429=) c.4167T>G (p.Pro1389=) c.4263T>G (p.Pro1421=) c.4209T>G (p.Pro1403=) c.4170T>G (p.Pro1390=) c.4119T>G (p.Pro1373=) c.1251T>G (p.Pro417=) | |
18 | g.33744136C>A | CA402190590 | ASXL3 | c.4291C>A (p.Pro1431Thr) c.4288C>A (p.Pro1430Thr) c.4168C>A (p.Pro1390Thr) c.4264C>A (p.Pro1422Thr) c.4210C>A (p.Pro1404Thr) c.4171C>A (p.Pro1391Thr) c.4120C>A (p.Pro1374Thr) c.1252C>A (p.Pro418Thr) | |
18 | g.33744136C>G | CA402190592 | ASXL3 | c.4291C>G (p.Pro1431Ala) c.4288C>G (p.Pro1430Ala) c.4168C>G (p.Pro1390Ala) c.4264C>G (p.Pro1422Ala) c.4210C>G (p.Pro1404Ala) c.4171C>G (p.Pro1391Ala) c.4120C>G (p.Pro1374Ala) c.1252C>G (p.Pro418Ala) | |
18 | g.33744136C>T | CA402190591 | ASXL3 | c.4291C>T (p.Pro1431Ser) c.4288C>T (p.Pro1430Ser) c.4168C>T (p.Pro1390Ser) c.4264C>T (p.Pro1422Ser) c.4210C>T (p.Pro1404Ser) c.4171C>T (p.Pro1391Ser) c.4120C>T (p.Pro1374Ser) c.1252C>T (p.Pro418Ser) | |
18 | g.33744137C>A | CA402190593 | ASXL3 | c.4292C>A (p.Pro1431His) c.4289C>A (p.Pro1430His) c.4169C>A (p.Pro1390His) c.4265C>A (p.Pro1422His) c.4211C>A (p.Pro1404His) c.4172C>A (p.Pro1391His) c.4121C>A (p.Pro1374His) c.1253C>A (p.Pro418His) | |
18 | g.33744137C= | CA2294858012 | ASXL3 | c.4292C= (p.Pro1431=) c.4289C= (p.Pro1430=) c.4169C= (p.Pro1390=) c.4265C= (p.Pro1422=) c.4211C= (p.Pro1404=) c.4172C= (p.Pro1391=) c.4121C= (p.Pro1374=) c.1253C= (p.Pro418=) | |
18 | g.33744137C>G | CA402190594 | ASXL3 | c.4292C>G (p.Pro1431Arg) c.4289C>G (p.Pro1430Arg) c.4169C>G (p.Pro1390Arg) c.4265C>G (p.Pro1422Arg) c.4211C>G (p.Pro1404Arg) c.4172C>G (p.Pro1391Arg) c.4121C>G (p.Pro1374Arg) c.1253C>G (p.Pro418Arg) | |
18 | g.33744137C>T | CA8934231 | ASXL3 | c.4292C>T (p.Pro1431Leu) c.4289C>T (p.Pro1430Leu) c.4169C>T (p.Pro1390Leu) c.4265C>T (p.Pro1422Leu) c.4211C>T (p.Pro1404Leu) c.4172C>T (p.Pro1391Leu) c.4121C>T (p.Pro1374Leu) c.1253C>T (p.Pro418Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744138C>A | CA503770444 | ASXL3 | c.4293C>A (p.Pro1431=) c.4290C>A (p.Pro1430=) c.4170C>A (p.Pro1390=) c.4266C>A (p.Pro1422=) c.4212C>A (p.Pro1404=) c.4173C>A (p.Pro1391=) c.4122C>A (p.Pro1374=) c.1254C>A (p.Pro418=) | |
18 | g.33744138C= | CA2294858013 | ASXL3 | c.4293C= (p.Pro1431=) c.4290C= (p.Pro1430=) c.4170C= (p.Pro1390=) c.4266C= (p.Pro1422=) c.4212C= (p.Pro1404=) c.4173C= (p.Pro1391=) c.4122C= (p.Pro1374=) c.1254C= (p.Pro418=) | |
18 | g.33744138C>G | CA503770446 | ASXL3 | c.4293C>G (p.Pro1431=) c.4290C>G (p.Pro1430=) c.4170C>G (p.Pro1390=) c.4266C>G (p.Pro1422=) c.4212C>G (p.Pro1404=) c.4173C>G (p.Pro1391=) c.4122C>G (p.Pro1374=) c.1254C>G (p.Pro418=) | |
18 | g.33744138C>T | CA8934232 | ASXL3 | c.4293C>T (p.Pro1431=) c.4290C>T (p.Pro1430=) c.4170C>T (p.Pro1390=) c.4266C>T (p.Pro1422=) c.4212C>T (p.Pro1404=) c.4173C>T (p.Pro1391=) c.4122C>T (p.Pro1374=) c.1254C>T (p.Pro418=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744139A>C | CA402190597 | ASXL3 | c.4294A>C (p.Lys1432Gln) c.4291A>C (p.Lys1431Gln) c.4171A>C (p.Lys1391Gln) c.4267A>C (p.Lys1423Gln) c.4213A>C (p.Lys1405Gln) c.4174A>C (p.Lys1392Gln) c.4123A>C (p.Lys1375Gln) c.1255A>C (p.Lys419Gln) | gnomAD v4 |
18 | g.33744139A>G | CA402190595 | ASXL3 | c.4294A>G (p.Lys1432Glu) c.4291A>G (p.Lys1431Glu) c.4171A>G (p.Lys1391Glu) c.4267A>G (p.Lys1423Glu) c.4213A>G (p.Lys1405Glu) c.4174A>G (p.Lys1392Glu) c.4123A>G (p.Lys1375Glu) c.1255A>G (p.Lys419Glu) | |
18 | g.33744139A>T | CA402190596 | ASXL3 | c.4294A>T (p.Lys1432Ter) c.4291A>T (p.Lys1431Ter) c.4171A>T (p.Lys1391Ter) c.4267A>T (p.Lys1423Ter) c.4213A>T (p.Lys1405Ter) c.4174A>T (p.Lys1392Ter) c.4123A>T (p.Lys1375Ter) c.1255A>T (p.Lys419Ter) | |
18 | g.33744140A>C | CA402190598 | ASXL3 | c.4295A>C (p.Lys1432Thr) c.4292A>C (p.Lys1431Thr) c.4172A>C (p.Lys1391Thr) c.4268A>C (p.Lys1423Thr) c.4214A>C (p.Lys1405Thr) c.4175A>C (p.Lys1392Thr) c.4124A>C (p.Lys1375Thr) c.1256A>C (p.Lys419Thr) | |
18 | g.33744140A>G | CA402190599 | ASXL3 | c.4295A>G (p.Lys1432Arg) c.4292A>G (p.Lys1431Arg) c.4172A>G (p.Lys1391Arg) c.4268A>G (p.Lys1423Arg) c.4214A>G (p.Lys1405Arg) c.4175A>G (p.Lys1392Arg) c.4124A>G (p.Lys1375Arg) c.1256A>G (p.Lys419Arg) | |
18 | g.33744140A>T | CA402190600 | ASXL3 | c.4295A>T (p.Lys1432Met) c.4292A>T (p.Lys1431Met) c.4172A>T (p.Lys1391Met) c.4268A>T (p.Lys1423Met) c.4214A>T (p.Lys1405Met) c.4175A>T (p.Lys1392Met) c.4124A>T (p.Lys1375Met) c.1256A>T (p.Lys419Met) | |
18 | g.33744141G>A | CA8934233 | ASXL3 | c.4296G>A (p.Lys1432=) c.4293G>A (p.Lys1431=) c.4173G>A (p.Lys1391=) c.4269G>A (p.Lys1423=) c.4215G>A (p.Lys1405=) c.4176G>A (p.Lys1392=) c.4125G>A (p.Lys1375=) c.1257G>A (p.Lys419=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744141G>C | CA402190601 | ASXL3 | c.4296G>C (p.Lys1432Asn) c.4293G>C (p.Lys1431Asn) c.4173G>C (p.Lys1391Asn) c.4269G>C (p.Lys1423Asn) c.4215G>C (p.Lys1405Asn) c.4176G>C (p.Lys1392Asn) c.4125G>C (p.Lys1375Asn) c.1257G>C (p.Lys419Asn) | |
18 | g.33744141G= | CA2294858014 | ASXL3 | c.4296G= (p.Lys1432=) c.4293G= (p.Lys1431=) c.4173G= (p.Lys1391=) c.4269G= (p.Lys1423=) c.4215G= (p.Lys1405=) c.4176G= (p.Lys1392=) c.4125G= (p.Lys1375=) c.1257G= (p.Lys419=) | |
18 | g.33744141G>T | CA402190602 | ASXL3 | c.4296G>T (p.Lys1432Asn) c.4293G>T (p.Lys1431Asn) c.4173G>T (p.Lys1391Asn) c.4269G>T (p.Lys1423Asn) c.4215G>T (p.Lys1405Asn) c.4176G>T (p.Lys1392Asn) c.4125G>T (p.Lys1375Asn) c.1257G>T (p.Lys419Asn) | |
18 | g.33744142T>A | CA402190603 | ASXL3 | c.4297T>A (p.Leu1433Ile) c.4294T>A (p.Leu1432Ile) c.4174T>A (p.Leu1392Ile) c.4270T>A (p.Leu1424Ile) c.4216T>A (p.Leu1406Ile) c.4177T>A (p.Leu1393Ile) c.4126T>A (p.Leu1376Ile) c.1258T>A (p.Leu420Ile) | |
18 | g.33744142T>C | CA503770457 | ASXL3 | c.4297T>C (p.Leu1433=) c.4294T>C (p.Leu1432=) c.4174T>C (p.Leu1392=) c.4270T>C (p.Leu1424=) c.4216T>C (p.Leu1406=) c.4177T>C (p.Leu1393=) c.4126T>C (p.Leu1376=) c.1258T>C (p.Leu420=) | |
18 | g.33744142T>G | CA402190604 | ASXL3 | c.4297T>G (p.Leu1433Val) c.4294T>G (p.Leu1432Val) c.4174T>G (p.Leu1392Val) c.4270T>G (p.Leu1424Val) c.4216T>G (p.Leu1406Val) c.4177T>G (p.Leu1393Val) c.4126T>G (p.Leu1376Val) c.1258T>G (p.Leu420Val) | |
18 | g.33744143T>A | CA402190605 | ASXL3 | c.4298T>A (p.Leu1433Ter) c.4295T>A (p.Leu1432Ter) c.4175T>A (p.Leu1392Ter) c.4271T>A (p.Leu1424Ter) c.4217T>A (p.Leu1406Ter) c.4178T>A (p.Leu1393Ter) c.4127T>A (p.Leu1376Ter) c.1259T>A (p.Leu420Ter) | |
18 | g.33744143T>C | CA402190606 | ASXL3 | c.4298T>C (p.Leu1433Ser) c.4295T>C (p.Leu1432Ser) c.4175T>C (p.Leu1392Ser) c.4271T>C (p.Leu1424Ser) c.4217T>C (p.Leu1406Ser) c.4178T>C (p.Leu1393Ser) c.4127T>C (p.Leu1376Ser) c.1259T>C (p.Leu420Ser) | |
18 | g.33744143T>G | CA402190607 | ASXL3 | c.4298T>G (p.Leu1433Ter) c.4295T>G (p.Leu1432Ter) c.4175T>G (p.Leu1392Ter) c.4271T>G (p.Leu1424Ter) c.4217T>G (p.Leu1406Ter) c.4178T>G (p.Leu1393Ter) c.4127T>G (p.Leu1376Ter) c.1259T>G (p.Leu420Ter) | |
18 | g.33744144A>C | CA402190608 | ASXL3 | c.4299A>C (p.Leu1433Phe) c.4296A>C (p.Leu1432Phe) c.4176A>C (p.Leu1392Phe) c.4272A>C (p.Leu1424Phe) c.4218A>C (p.Leu1406Phe) c.4179A>C (p.Leu1393Phe) c.4128A>C (p.Leu1376Phe) c.1260A>C (p.Leu420Phe) | |
18 | g.33744144A>G | CA503770464 | ASXL3 | c.4299A>G (p.Leu1433=) c.4296A>G (p.Leu1432=) c.4176A>G (p.Leu1392=) c.4272A>G (p.Leu1424=) c.4218A>G (p.Leu1406=) c.4179A>G (p.Leu1393=) c.4128A>G (p.Leu1376=) c.1260A>G (p.Leu420=) | gnomAD v4 |
18 | g.33744144A>T | CA402190609 | ASXL3 | c.4299A>T (p.Leu1433Phe) c.4296A>T (p.Leu1432Phe) c.4176A>T (p.Leu1392Phe) c.4272A>T (p.Leu1424Phe) c.4218A>T (p.Leu1406Phe) c.4179A>T (p.Leu1393Phe) c.4128A>T (p.Leu1376Phe) c.1260A>T (p.Leu420Phe) | |
18 | g.33744145A>C | CA402190610 | ASXL3 | c.4300A>C (p.Ser1434Arg) c.4297A>C (p.Ser1433Arg) c.4177A>C (p.Ser1393Arg) c.4273A>C (p.Ser1425Arg) c.4219A>C (p.Ser1407Arg) c.4180A>C (p.Ser1394Arg) c.4129A>C (p.Ser1377Arg) c.1261A>C (p.Ser421Arg) | |
18 | g.33744145A>G | CA402190611 | ASXL3 | c.4300A>G (p.Ser1434Gly) c.4297A>G (p.Ser1433Gly) c.4177A>G (p.Ser1393Gly) c.4273A>G (p.Ser1425Gly) c.4219A>G (p.Ser1407Gly) c.4180A>G (p.Ser1394Gly) c.4129A>G (p.Ser1377Gly) c.1261A>G (p.Ser421Gly) | |
18 | g.33744145A>T | CA402190612 | ASXL3 | c.4300A>T (p.Ser1434Cys) c.4297A>T (p.Ser1433Cys) c.4177A>T (p.Ser1393Cys) c.4273A>T (p.Ser1425Cys) c.4219A>T (p.Ser1407Cys) c.4180A>T (p.Ser1394Cys) c.4129A>T (p.Ser1377Cys) c.1261A>T (p.Ser421Cys) | |
18 | g.33744146G>A | CA402190613 | ASXL3 | c.4301G>A (p.Ser1434Asn) c.4298G>A (p.Ser1433Asn) c.4178G>A (p.Ser1393Asn) c.4274G>A (p.Ser1425Asn) c.4220G>A (p.Ser1407Asn) c.4181G>A (p.Ser1394Asn) c.4130G>A (p.Ser1377Asn) c.1262G>A (p.Ser421Asn) | dbSNP gnomAD v2 |
18 | g.33744146G>C | CA402190614 | ASXL3 | c.4301G>C (p.Ser1434Thr) c.4298G>C (p.Ser1433Thr) c.4178G>C (p.Ser1393Thr) c.4274G>C (p.Ser1425Thr) c.4220G>C (p.Ser1407Thr) c.4181G>C (p.Ser1394Thr) c.4130G>C (p.Ser1377Thr) c.1262G>C (p.Ser421Thr) | gnomAD v4 |
18 | g.33744146G= | CA2294858015 | ASXL3 | c.4301G= (p.Ser1434=) c.4298G= (p.Ser1433=) c.4178G= (p.Ser1393=) c.4274G= (p.Ser1425=) c.4220G= (p.Ser1407=) c.4181G= (p.Ser1394=) c.4130G= (p.Ser1377=) c.1262G= (p.Ser421=) | |
18 | g.33744146G>T | CA402190615 | ASXL3 | c.4301G>T (p.Ser1434Ile) c.4298G>T (p.Ser1433Ile) c.4178G>T (p.Ser1393Ile) c.4274G>T (p.Ser1425Ile) c.4220G>T (p.Ser1407Ile) c.4181G>T (p.Ser1394Ile) c.4130G>T (p.Ser1377Ile) c.1262G>T (p.Ser421Ile) | |
18 | g.33744147T>A | CA402190616 | ASXL3 | c.4302T>A (p.Ser1434Arg) c.4299T>A (p.Ser1433Arg) c.4179T>A (p.Ser1393Arg) c.4275T>A (p.Ser1425Arg) c.4221T>A (p.Ser1407Arg) c.4182T>A (p.Ser1394Arg) c.4131T>A (p.Ser1377Arg) c.1263T>A (p.Ser421Arg) | |
18 | g.33744147T>C | CA503770473 | ASXL3 | c.4302T>C (p.Ser1434=) c.4299T>C (p.Ser1433=) c.4179T>C (p.Ser1393=) c.4275T>C (p.Ser1425=) c.4221T>C (p.Ser1407=) c.4182T>C (p.Ser1394=) c.4131T>C (p.Ser1377=) c.1263T>C (p.Ser421=) | |
18 | g.33744147T>G | CA402190617 | ASXL3 | c.4302T>G (p.Ser1434Arg) c.4299T>G (p.Ser1433Arg) c.4179T>G (p.Ser1393Arg) c.4275T>G (p.Ser1425Arg) c.4221T>G (p.Ser1407Arg) c.4182T>G (p.Ser1394Arg) c.4131T>G (p.Ser1377Arg) c.1263T>G (p.Ser421Arg) | |
18 | g.33744148G>A | CA402190618 | ASXL3 | c.4303G>A (p.Ala1435Thr) c.4300G>A (p.Ala1434Thr) c.4180G>A (p.Ala1394Thr) c.4276G>A (p.Ala1426Thr) c.4222G>A (p.Ala1408Thr) c.4183G>A (p.Ala1395Thr) c.4132G>A (p.Ala1378Thr) c.1264G>A (p.Ala422Thr) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744148G>C | CA402190619 | ASXL3 | c.4303G>C (p.Ala1435Pro) c.4300G>C (p.Ala1434Pro) c.4180G>C (p.Ala1394Pro) c.4276G>C (p.Ala1426Pro) c.4222G>C (p.Ala1408Pro) c.4183G>C (p.Ala1395Pro) c.4132G>C (p.Ala1378Pro) c.1264G>C (p.Ala422Pro) | |
18 | g.33744148G= | CA2294858016 | ASXL3 | c.4303G= (p.Ala1435=) c.4300G= (p.Ala1434=) c.4180G= (p.Ala1394=) c.4276G= (p.Ala1426=) c.4222G= (p.Ala1408=) c.4183G= (p.Ala1395=) c.4132G= (p.Ala1378=) c.1264G= (p.Ala422=) | |
18 | g.33744148G>T | CA402190620 | ASXL3 | c.4303G>T (p.Ala1435Ser) c.4300G>T (p.Ala1434Ser) c.4180G>T (p.Ala1394Ser) c.4276G>T (p.Ala1426Ser) c.4222G>T (p.Ala1408Ser) c.4183G>T (p.Ala1395Ser) c.4132G>T (p.Ala1378Ser) c.1264G>T (p.Ala422Ser) | |
18 | g.33744149C>A | CA402190623 | ASXL3 | c.4304C>A (p.Ala1435Asp) c.4301C>A (p.Ala1434Asp) c.4181C>A (p.Ala1394Asp) c.4277C>A (p.Ala1426Asp) c.4223C>A (p.Ala1408Asp) c.4184C>A (p.Ala1395Asp) c.4133C>A (p.Ala1378Asp) c.1265C>A (p.Ala422Asp) | |
18 | g.33744149C>G | CA402190622 | ASXL3 | c.4304C>G (p.Ala1435Gly) c.4301C>G (p.Ala1434Gly) c.4181C>G (p.Ala1394Gly) c.4277C>G (p.Ala1426Gly) c.4223C>G (p.Ala1408Gly) c.4184C>G (p.Ala1395Gly) c.4133C>G (p.Ala1378Gly) c.1265C>G (p.Ala422Gly) | |
18 | g.33744149C>T | CA402190621 | ASXL3 | c.4304C>T (p.Ala1435Val) c.4301C>T (p.Ala1434Val) c.4181C>T (p.Ala1394Val) c.4277C>T (p.Ala1426Val) c.4223C>T (p.Ala1408Val) c.4184C>T (p.Ala1395Val) c.4133C>T (p.Ala1378Val) c.1265C>T (p.Ala422Val) | |
18 | g.33744150T>A | CA503770479 | ASXL3 | c.4305T>A (p.Ala1435=) c.4302T>A (p.Ala1434=) c.4182T>A (p.Ala1394=) c.4278T>A (p.Ala1426=) c.4224T>A (p.Ala1408=) c.4185T>A (p.Ala1395=) c.4134T>A (p.Ala1378=) c.1266T>A (p.Ala422=) | gnomAD v4 |
18 | g.33744150T>C | CA503770481 | ASXL3 | c.4305T>C (p.Ala1435=) c.4302T>C (p.Ala1434=) c.4182T>C (p.Ala1394=) c.4278T>C (p.Ala1426=) c.4224T>C (p.Ala1408=) c.4185T>C (p.Ala1395=) c.4134T>C (p.Ala1378=) c.1266T>C (p.Ala422=) | gnomAD v4 |
18 | g.33744150T>G | CA503770482 | ASXL3 | c.4305T>G (p.Ala1435=) c.4302T>G (p.Ala1434=) c.4182T>G (p.Ala1394=) c.4278T>G (p.Ala1426=) c.4224T>G (p.Ala1408=) c.4185T>G (p.Ala1395=) c.4134T>G (p.Ala1378=) c.1266T>G (p.Ala422=) | |
18 | g.33744151G>A | CA8934234 | ASXL3 | c.4306G>A (p.Glu1436Lys) c.4303G>A (p.Glu1435Lys) c.4183G>A (p.Glu1395Lys) c.4279G>A (p.Glu1427Lys) c.4225G>A (p.Glu1409Lys) c.4186G>A (p.Glu1396Lys) c.4135G>A (p.Glu1379Lys) c.1267G>A (p.Glu423Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744151G>C | CA402190624 | ASXL3 | c.4306G>C (p.Glu1436Gln) c.4303G>C (p.Glu1435Gln) c.4183G>C (p.Glu1395Gln) c.4279G>C (p.Glu1427Gln) c.4225G>C (p.Glu1409Gln) c.4186G>C (p.Glu1396Gln) c.4135G>C (p.Glu1379Gln) c.1267G>C (p.Glu423Gln) | |
18 | g.33744151G= | CA2294858017 | ASXL3 | c.4306G= (p.Glu1436=) c.4303G= (p.Glu1435=) c.4183G= (p.Glu1395=) c.4279G= (p.Glu1427=) c.4225G= (p.Glu1409=) c.4186G= (p.Glu1396=) c.4135G= (p.Glu1379=) c.1267G= (p.Glu423=) | |
18 | g.33744151G>T | CA402190625 | ASXL3 | c.4306G>T (p.Glu1436Ter) c.4303G>T (p.Glu1435Ter) c.4183G>T (p.Glu1395Ter) c.4279G>T (p.Glu1427Ter) c.4225G>T (p.Glu1409Ter) c.4186G>T (p.Glu1396Ter) c.4135G>T (p.Glu1379Ter) c.1267G>T (p.Glu423Ter) | |
18 | g.33744152A>C | CA402190626 | ASXL3 | c.4307A>C (p.Glu1436Ala) c.4304A>C (p.Glu1435Ala) c.4184A>C (p.Glu1395Ala) c.4280A>C (p.Glu1427Ala) c.4226A>C (p.Glu1409Ala) c.4187A>C (p.Glu1396Ala) c.4136A>C (p.Glu1379Ala) c.1268A>C (p.Glu423Ala) | |
18 | g.33744152A>G | CA402190627 | ASXL3 | c.4307A>G (p.Glu1436Gly) c.4304A>G (p.Glu1435Gly) c.4184A>G (p.Glu1395Gly) c.4280A>G (p.Glu1427Gly) c.4226A>G (p.Glu1409Gly) c.4187A>G (p.Glu1396Gly) c.4136A>G (p.Glu1379Gly) c.1268A>G (p.Glu423Gly) | |
18 | g.33744152A>T | CA402190628 | ASXL3 | c.4307A>T (p.Glu1436Val) c.4304A>T (p.Glu1435Val) c.4184A>T (p.Glu1395Val) c.4280A>T (p.Glu1427Val) c.4226A>T (p.Glu1409Val) c.4187A>T (p.Glu1396Val) c.4136A>T (p.Glu1379Val) c.1268A>T (p.Glu423Val) | |
18 | g.33744153A>C | CA402190629 | ASXL3 | c.4308A>C (p.Glu1436Asp) c.4305A>C (p.Glu1435Asp) c.4185A>C (p.Glu1395Asp) c.4281A>C (p.Glu1427Asp) c.4227A>C (p.Glu1409Asp) c.4188A>C (p.Glu1396Asp) c.4137A>C (p.Glu1379Asp) c.1269A>C (p.Glu423Asp) | |
18 | g.33744153A>G | CA503770489 | ASXL3 | c.4308A>G (p.Glu1436=) c.4305A>G (p.Glu1435=) c.4185A>G (p.Glu1395=) c.4281A>G (p.Glu1427=) c.4227A>G (p.Glu1409=) c.4188A>G (p.Glu1396=) c.4137A>G (p.Glu1379=) c.1269A>G (p.Glu423=) | |
18 | g.33744153A>T | CA402190630 | ASXL3 | c.4308A>T (p.Glu1436Asp) c.4305A>T (p.Glu1435Asp) c.4185A>T (p.Glu1395Asp) c.4281A>T (p.Glu1427Asp) c.4227A>T (p.Glu1409Asp) c.4188A>T (p.Glu1396Asp) c.4137A>T (p.Glu1379Asp) c.1269A>T (p.Glu423Asp) | |
18 | g.33744154A>C | CA402190631 | ASXL3 | c.4309A>C (p.Ser1437Arg) c.4306A>C (p.Ser1436Arg) c.4186A>C (p.Ser1396Arg) c.4282A>C (p.Ser1428Arg) c.4228A>C (p.Ser1410Arg) c.4189A>C (p.Ser1397Arg) c.4138A>C (p.Ser1380Arg) c.1270A>C (p.Ser424Arg) | |
18 | g.33744154A>G | CA402190632 | ASXL3 | c.4309A>G (p.Ser1437Gly) c.4306A>G (p.Ser1436Gly) c.4186A>G (p.Ser1396Gly) c.4282A>G (p.Ser1428Gly) c.4228A>G (p.Ser1410Gly) c.4189A>G (p.Ser1397Gly) c.4138A>G (p.Ser1380Gly) c.1270A>G (p.Ser424Gly) | |
18 | g.33744154A>T | CA402190633 | ASXL3 | c.4309A>T (p.Ser1437Cys) c.4306A>T (p.Ser1436Cys) c.4186A>T (p.Ser1396Cys) c.4282A>T (p.Ser1428Cys) c.4228A>T (p.Ser1410Cys) c.4189A>T (p.Ser1397Cys) c.4138A>T (p.Ser1380Cys) c.1270A>T (p.Ser424Cys) | |
18 | g.33744155G>A | CA402190636 | ASXL3 | c.4310G>A (p.Ser1437Asn) c.4307G>A (p.Ser1436Asn) c.4187G>A (p.Ser1396Asn) c.4283G>A (p.Ser1428Asn) c.4229G>A (p.Ser1410Asn) c.4190G>A (p.Ser1397Asn) c.4139G>A (p.Ser1380Asn) c.1271G>A (p.Ser424Asn) | gnomAD v4 |
18 | g.33744155G>C | CA402190635 | ASXL3 | c.4310G>C (p.Ser1437Thr) c.4307G>C (p.Ser1436Thr) c.4187G>C (p.Ser1396Thr) c.4283G>C (p.Ser1428Thr) c.4229G>C (p.Ser1410Thr) c.4190G>C (p.Ser1397Thr) c.4139G>C (p.Ser1380Thr) c.1271G>C (p.Ser424Thr) | |
18 | g.33744155G>T | CA402190634 | ASXL3 | c.4310G>T (p.Ser1437Ile) c.4307G>T (p.Ser1436Ile) c.4187G>T (p.Ser1396Ile) c.4283G>T (p.Ser1428Ile) c.4229G>T (p.Ser1410Ile) c.4190G>T (p.Ser1397Ile) c.4139G>T (p.Ser1380Ile) c.1271G>T (p.Ser424Ile) | |
18 | g.33744156C>A | CA402190637 | ASXL3 | c.4311C>A (p.Ser1437Arg) c.4308C>A (p.Ser1436Arg) c.4188C>A (p.Ser1396Arg) c.4284C>A (p.Ser1428Arg) c.4230C>A (p.Ser1410Arg) c.4191C>A (p.Ser1397Arg) c.4140C>A (p.Ser1380Arg) c.1272C>A (p.Ser424Arg) | |
18 | g.33744156C>G | CA402190638 | ASXL3 | c.4311C>G (p.Ser1437Arg) c.4308C>G (p.Ser1436Arg) c.4188C>G (p.Ser1396Arg) c.4284C>G (p.Ser1428Arg) c.4230C>G (p.Ser1410Arg) c.4191C>G (p.Ser1397Arg) c.4140C>G (p.Ser1380Arg) c.1272C>G (p.Ser424Arg) | |
18 | g.33744156C>T | CA503770495 | ASXL3 | c.4311C>T (p.Ser1437=) c.4308C>T (p.Ser1436=) c.4188C>T (p.Ser1396=) c.4284C>T (p.Ser1428=) c.4230C>T (p.Ser1410=) c.4191C>T (p.Ser1397=) c.4140C>T (p.Ser1380=) c.1272C>T (p.Ser424=) | |
18 | g.33744157T>A | CA402190639 | ASXL3 | c.4312T>A (p.Leu1438Met) c.4309T>A (p.Leu1437Met) c.4189T>A (p.Leu1397Met) c.4285T>A (p.Leu1429Met) c.4231T>A (p.Leu1411Met) c.4192T>A (p.Leu1398Met) c.4141T>A (p.Leu1381Met) c.1273T>A (p.Leu425Met) | |
18 | g.33744157T>C | CA503770498 | ASXL3 | c.4312T>C (p.Leu1438=) c.4309T>C (p.Leu1437=) c.4189T>C (p.Leu1397=) c.4285T>C (p.Leu1429=) c.4231T>C (p.Leu1411=) c.4192T>C (p.Leu1398=) c.4141T>C (p.Leu1381=) c.1273T>C (p.Leu425=) | |
18 | g.33744157T>G | CA402190640 | ASXL3 | c.4312T>G (p.Leu1438Val) c.4309T>G (p.Leu1437Val) c.4189T>G (p.Leu1397Val) c.4285T>G (p.Leu1429Val) c.4231T>G (p.Leu1411Val) c.4192T>G (p.Leu1398Val) c.4141T>G (p.Leu1381Val) c.1273T>G (p.Leu425Val) | |
18 | g.33744158T>A | CA402190641 | ASXL3 | c.4313T>A (p.Leu1438Ter) c.4310T>A (p.Leu1437Ter) c.4190T>A (p.Leu1397Ter) c.4286T>A (p.Leu1429Ter) c.4232T>A (p.Leu1411Ter) c.4193T>A (p.Leu1398Ter) c.4142T>A (p.Leu1381Ter) c.1274T>A (p.Leu425Ter) | |
18 | g.33744158T>C | CA402190642 | ASXL3 | c.4313T>C (p.Leu1438Ser) c.4310T>C (p.Leu1437Ser) c.4190T>C (p.Leu1397Ser) c.4286T>C (p.Leu1429Ser) c.4232T>C (p.Leu1411Ser) c.4193T>C (p.Leu1398Ser) c.4142T>C (p.Leu1381Ser) c.1274T>C (p.Leu425Ser) | |
18 | g.33744158T>G | CA402190643 | ASXL3 | c.4313T>G (p.Leu1438Trp) c.4310T>G (p.Leu1437Trp) c.4190T>G (p.Leu1397Trp) c.4286T>G (p.Leu1429Trp) c.4232T>G (p.Leu1411Trp) c.4193T>G (p.Leu1398Trp) c.4142T>G (p.Leu1381Trp) c.1274T>G (p.Leu425Trp) | gnomAD v4 |
18 | g.33744159G>A | CA503770503 | ASXL3 | c.4314G>A (p.Leu1438=) c.4311G>A (p.Leu1437=) c.4191G>A (p.Leu1397=) c.4287G>A (p.Leu1429=) c.4233G>A (p.Leu1411=) c.4194G>A (p.Leu1398=) c.4143G>A (p.Leu1381=) c.1275G>A (p.Leu425=) | |
18 | g.33744159G>C | CA402190644 | ASXL3 | c.4314G>C (p.Leu1438Phe) c.4311G>C (p.Leu1437Phe) c.4191G>C (p.Leu1397Phe) c.4287G>C (p.Leu1429Phe) c.4233G>C (p.Leu1411Phe) c.4194G>C (p.Leu1398Phe) c.4143G>C (p.Leu1381Phe) c.1275G>C (p.Leu425Phe) | |
18 | g.33744159G>T | CA402190645 | ASXL3 | c.4314G>T (p.Leu1438Phe) c.4311G>T (p.Leu1437Phe) c.4191G>T (p.Leu1397Phe) c.4287G>T (p.Leu1429Phe) c.4233G>T (p.Leu1411Phe) c.4194G>T (p.Leu1398Phe) c.4143G>T (p.Leu1381Phe) c.1275G>T (p.Leu425Phe) | dbSNP gnomAD v4 |
18 | g.33744160G>A | CA402190646 | ASXL3 | c.4315G>A (p.Asp1439Asn) c.4312G>A (p.Asp1438Asn) c.4192G>A (p.Asp1398Asn) c.4288G>A (p.Asp1430Asn) c.4234G>A (p.Asp1412Asn) c.4195G>A (p.Asp1399Asn) c.4144G>A (p.Asp1382Asn) c.1276G>A (p.Asp426Asn) | |
18 | g.33744160G>C | CA402190647 | ASXL3 | c.4315G>C (p.Asp1439His) c.4312G>C (p.Asp1438His) c.4192G>C (p.Asp1398His) c.4288G>C (p.Asp1430His) c.4234G>C (p.Asp1412His) c.4195G>C (p.Asp1399His) c.4144G>C (p.Asp1382His) c.1276G>C (p.Asp426His) | gnomAD v4 |
18 | g.33744160G>T | CA402190648 | ASXL3 | c.4315G>T (p.Asp1439Tyr) c.4312G>T (p.Asp1438Tyr) c.4192G>T (p.Asp1398Tyr) c.4288G>T (p.Asp1430Tyr) c.4234G>T (p.Asp1412Tyr) c.4195G>T (p.Asp1399Tyr) c.4144G>T (p.Asp1382Tyr) c.1276G>T (p.Asp426Tyr) | |
18 | g.33744161A>C | CA402190651 | ASXL3 | c.4316A>C (p.Asp1439Ala) c.4313A>C (p.Asp1438Ala) c.4193A>C (p.Asp1398Ala) c.4289A>C (p.Asp1430Ala) c.4235A>C (p.Asp1412Ala) c.4196A>C (p.Asp1399Ala) c.4145A>C (p.Asp1382Ala) c.1277A>C (p.Asp426Ala) | |
18 | g.33744161A>G | CA402190650 | ASXL3 | c.4316A>G (p.Asp1439Gly) c.4313A>G (p.Asp1438Gly) c.4193A>G (p.Asp1398Gly) c.4289A>G (p.Asp1430Gly) c.4235A>G (p.Asp1412Gly) c.4196A>G (p.Asp1399Gly) c.4145A>G (p.Asp1382Gly) c.1277A>G (p.Asp426Gly) | |
18 | g.33744161A>T | CA402190649 | ASXL3 | c.4316A>T (p.Asp1439Val) c.4313A>T (p.Asp1438Val) c.4193A>T (p.Asp1398Val) c.4289A>T (p.Asp1430Val) c.4235A>T (p.Asp1412Val) c.4196A>T (p.Asp1399Val) c.4145A>T (p.Asp1382Val) c.1277A>T (p.Asp426Val) | |
18 | g.33744162C>A | CA402190652 | ASXL3 | c.4317C>A (p.Asp1439Glu) c.4314C>A (p.Asp1438Glu) c.4194C>A (p.Asp1398Glu) c.4290C>A (p.Asp1430Glu) c.4236C>A (p.Asp1412Glu) c.4197C>A (p.Asp1399Glu) c.4146C>A (p.Asp1382Glu) c.1278C>A (p.Asp426Glu) | |
18 | g.33744162C>G | CA402190653 | ASXL3 | c.4317C>G (p.Asp1439Glu) c.4314C>G (p.Asp1438Glu) c.4194C>G (p.Asp1398Glu) c.4290C>G (p.Asp1430Glu) c.4236C>G (p.Asp1412Glu) c.4197C>G (p.Asp1399Glu) c.4146C>G (p.Asp1382Glu) c.1278C>G (p.Asp426Glu) | |
18 | g.33744162C>T | CA503770508 | ASXL3 | c.4317C>T (p.Asp1439=) c.4314C>T (p.Asp1438=) c.4194C>T (p.Asp1398=) c.4290C>T (p.Asp1430=) c.4236C>T (p.Asp1412=) c.4197C>T (p.Asp1399=) c.4146C>T (p.Asp1382=) c.1278C>T (p.Asp426=) | |
18 | g.33744163A>C | CA402190654 | ASXL3 | c.4318A>C (p.Lys1440Gln) c.4315A>C (p.Lys1439Gln) c.4195A>C (p.Lys1399Gln) c.4291A>C (p.Lys1431Gln) c.4237A>C (p.Lys1413Gln) c.4198A>C (p.Lys1400Gln) c.4147A>C (p.Lys1383Gln) c.1279A>C (p.Lys427Gln) | |
18 | g.33744163A>G | CA402190655 | ASXL3 | c.4318A>G (p.Lys1440Glu) c.4315A>G (p.Lys1439Glu) c.4195A>G (p.Lys1399Glu) c.4291A>G (p.Lys1431Glu) c.4237A>G (p.Lys1413Glu) c.4198A>G (p.Lys1400Glu) c.4147A>G (p.Lys1383Glu) c.1279A>G (p.Lys427Glu) | |
18 | g.33744163A>T | CA402190656 | ASXL3 | c.4318A>T (p.Lys1440Ter) c.4315A>T (p.Lys1439Ter) c.4195A>T (p.Lys1399Ter) c.4291A>T (p.Lys1431Ter) c.4237A>T (p.Lys1413Ter) c.4198A>T (p.Lys1400Ter) c.4147A>T (p.Lys1383Ter) c.1279A>T (p.Lys427Ter) | |
18 | g.33744164A= | CA2294858018 | ASXL3 | c.4319A= (p.Lys1440=) c.4316A= (p.Lys1439=) c.4196A= (p.Lys1399=) c.4292A= (p.Lys1431=) c.4238A= (p.Lys1413=) c.4199A= (p.Lys1400=) c.4148A= (p.Lys1383=) c.1280A= (p.Lys427=) | |
18 | g.33744164A>C | CA8934235 | ASXL3 | c.4319A>C (p.Lys1440Thr) c.4316A>C (p.Lys1439Thr) c.4196A>C (p.Lys1399Thr) c.4292A>C (p.Lys1431Thr) c.4238A>C (p.Lys1413Thr) c.4199A>C (p.Lys1400Thr) c.4148A>C (p.Lys1383Thr) c.1280A>C (p.Lys427Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744164A>G | CA402190657 | ASXL3 | c.4319A>G (p.Lys1440Arg) c.4316A>G (p.Lys1439Arg) c.4196A>G (p.Lys1399Arg) c.4292A>G (p.Lys1431Arg) c.4238A>G (p.Lys1413Arg) c.4199A>G (p.Lys1400Arg) c.4148A>G (p.Lys1383Arg) c.1280A>G (p.Lys427Arg) | |
18 | g.33744164A>T | CA402190658 | ASXL3 | c.4319A>T (p.Lys1440Ile) c.4316A>T (p.Lys1439Ile) c.4196A>T (p.Lys1399Ile) c.4292A>T (p.Lys1431Ile) c.4238A>T (p.Lys1413Ile) c.4199A>T (p.Lys1400Ile) c.4148A>T (p.Lys1383Ile) c.1280A>T (p.Lys427Ile) | |
18 | g.33744165A>C | CA402190659 | ASXL3 | c.4320A>C (p.Lys1440Asn) c.4317A>C (p.Lys1439Asn) c.4197A>C (p.Lys1399Asn) c.4293A>C (p.Lys1431Asn) c.4239A>C (p.Lys1413Asn) c.4200A>C (p.Lys1400Asn) c.4149A>C (p.Lys1383Asn) c.1281A>C (p.Lys427Asn) | |
18 | g.33744165A>G | CA503770512 | ASXL3 | c.4320A>G (p.Lys1440=) c.4317A>G (p.Lys1439=) c.4197A>G (p.Lys1399=) c.4293A>G (p.Lys1431=) c.4239A>G (p.Lys1413=) c.4200A>G (p.Lys1400=) c.4149A>G (p.Lys1383=) c.1281A>G (p.Lys427=) | |
18 | g.33744165A>T | CA402190660 | ASXL3 | c.4320A>T (p.Lys1440Asn) c.4317A>T (p.Lys1439Asn) c.4197A>T (p.Lys1399Asn) c.4293A>T (p.Lys1431Asn) c.4239A>T (p.Lys1413Asn) c.4200A>T (p.Lys1400Asn) c.4149A>T (p.Lys1383Asn) c.1281A>T (p.Lys427Asn) | |
18 | g.33744166A>C | CA402190661 | ASXL3 | c.4321A>C (p.Asn1441His) c.4318A>C (p.Asn1440His) c.4198A>C (p.Asn1400His) c.4294A>C (p.Asn1432His) c.4240A>C (p.Asn1414His) c.4201A>C (p.Asn1401His) c.4150A>C (p.Asn1384His) c.1282A>C (p.Asn428His) | |
18 | g.33744166A>G | CA402190662 | ASXL3 | c.4321A>G (p.Asn1441Asp) c.4318A>G (p.Asn1440Asp) c.4198A>G (p.Asn1400Asp) c.4294A>G (p.Asn1432Asp) c.4240A>G (p.Asn1414Asp) c.4201A>G (p.Asn1401Asp) c.4150A>G (p.Asn1384Asp) c.1282A>G (p.Asn428Asp) | |
18 | g.33744166A>T | CA402190663 | ASXL3 | c.4321A>T (p.Asn1441Tyr) c.4318A>T (p.Asn1440Tyr) c.4198A>T (p.Asn1400Tyr) c.4294A>T (p.Asn1432Tyr) c.4240A>T (p.Asn1414Tyr) c.4201A>T (p.Asn1401Tyr) c.4150A>T (p.Asn1384Tyr) c.1282A>T (p.Asn428Tyr) | |
18 | g.33744167A= | CA2294858019 | ASXL3 | c.4322A= (p.Asn1441=) c.4319A= (p.Asn1440=) c.4199A= (p.Asn1400=) c.4295A= (p.Asn1432=) c.4241A= (p.Asn1414=) c.4202A= (p.Asn1401=) c.4151A= (p.Asn1384=) c.1283A= (p.Asn428=) | |
18 | g.33744167A>C | CA402190665 | ASXL3 | c.4322A>C (p.Asn1441Thr) c.4319A>C (p.Asn1440Thr) c.4199A>C (p.Asn1400Thr) c.4295A>C (p.Asn1432Thr) c.4241A>C (p.Asn1414Thr) c.4202A>C (p.Asn1401Thr) c.4151A>C (p.Asn1384Thr) c.1283A>C (p.Asn428Thr) | |
18 | g.33744167A>G | CA8934236 | ASXL3 | c.4322A>G (p.Asn1441Ser) c.4319A>G (p.Asn1440Ser) c.4199A>G (p.Asn1400Ser) c.4295A>G (p.Asn1432Ser) c.4241A>G (p.Asn1414Ser) c.4202A>G (p.Asn1401Ser) c.4151A>G (p.Asn1384Ser) c.1283A>G (p.Asn428Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744167A>T | CA402190664 | ASXL3 | c.4322A>T (p.Asn1441Ile) c.4319A>T (p.Asn1440Ile) c.4199A>T (p.Asn1400Ile) c.4295A>T (p.Asn1432Ile) c.4241A>T (p.Asn1414Ile) c.4202A>T (p.Asn1401Ile) c.4151A>T (p.Asn1384Ile) c.1283A>T (p.Asn428Ile) | |
18 | g.33744168T>A | CA402190666 | ASXL3 | c.4323T>A (p.Asn1441Lys) c.4320T>A (p.Asn1440Lys) c.4200T>A (p.Asn1400Lys) c.4296T>A (p.Asn1432Lys) c.4242T>A (p.Asn1414Lys) c.4203T>A (p.Asn1401Lys) c.4152T>A (p.Asn1384Lys) c.1284T>A (p.Asn428Lys) | |
18 | g.33744168T>C | CA503770517 | ASXL3 | c.4323T>C (p.Asn1441=) c.4320T>C (p.Asn1440=) c.4200T>C (p.Asn1400=) c.4296T>C (p.Asn1432=) c.4242T>C (p.Asn1414=) c.4203T>C (p.Asn1401=) c.4152T>C (p.Asn1384=) c.1284T>C (p.Asn428=) | |
18 | g.33744168T>G | CA402190667 | ASXL3 | c.4323T>G (p.Asn1441Lys) c.4320T>G (p.Asn1440Lys) c.4200T>G (p.Asn1400Lys) c.4296T>G (p.Asn1432Lys) c.4242T>G (p.Asn1414Lys) c.4203T>G (p.Asn1401Lys) c.4152T>G (p.Asn1384Lys) c.1284T>G (p.Asn428Lys) | |
18 | g.33744169T>A | CA402190668 | ASXL3 | c.4324T>A (p.Ser1442Thr) c.4321T>A (p.Ser1441Thr) c.4201T>A (p.Ser1401Thr) c.4297T>A (p.Ser1433Thr) c.4243T>A (p.Ser1415Thr) c.4204T>A (p.Ser1402Thr) c.4153T>A (p.Ser1385Thr) c.1285T>A (p.Ser429Thr) | |
18 | g.33744169T>C | CA402190669 | ASXL3 | c.4324T>C (p.Ser1442Pro) c.4321T>C (p.Ser1441Pro) c.4201T>C (p.Ser1401Pro) c.4297T>C (p.Ser1433Pro) c.4243T>C (p.Ser1415Pro) c.4204T>C (p.Ser1402Pro) c.4153T>C (p.Ser1385Pro) c.1285T>C (p.Ser429Pro) | |
18 | g.33744169T>G | CA402190670 | ASXL3 | c.4324T>G (p.Ser1442Ala) c.4321T>G (p.Ser1441Ala) c.4201T>G (p.Ser1401Ala) c.4297T>G (p.Ser1433Ala) c.4243T>G (p.Ser1415Ala) c.4204T>G (p.Ser1402Ala) c.4153T>G (p.Ser1385Ala) c.1285T>G (p.Ser429Ala) | |
18 | g.33744170C>A | CA402190671 | ASXL3 | c.4325C>A (p.Ser1442Ter) c.4322C>A (p.Ser1441Ter) c.4202C>A (p.Ser1401Ter) c.4298C>A (p.Ser1433Ter) c.4244C>A (p.Ser1415Ter) c.4205C>A (p.Ser1402Ter) c.4154C>A (p.Ser1385Ter) c.1286C>A (p.Ser429Ter) | |
18 | g.33744170C= | CA2294858020 | ASXL3 | c.4325C= (p.Ser1442=) c.4322C= (p.Ser1441=) c.4202C= (p.Ser1401=) c.4298C= (p.Ser1433=) c.4244C= (p.Ser1415=) c.4205C= (p.Ser1402=) c.4154C= (p.Ser1385=) c.1286C= (p.Ser429=) | |
18 | g.33744170C>G | CA402190672 | ASXL3 | c.4325C>G (p.Ser1442Ter) c.4322C>G (p.Ser1441Ter) c.4202C>G (p.Ser1401Ter) c.4298C>G (p.Ser1433Ter) c.4244C>G (p.Ser1415Ter) c.4205C>G (p.Ser1402Ter) c.4154C>G (p.Ser1385Ter) c.1286C>G (p.Ser429Ter) | ClinVar dbSNP |
18 | g.33744170C>T | CA402190673 | ASXL3 | c.4325C>T (p.Ser1442Leu) c.4322C>T (p.Ser1441Leu) c.4202C>T (p.Ser1401Leu) c.4298C>T (p.Ser1433Leu) c.4244C>T (p.Ser1415Leu) c.4205C>T (p.Ser1402Leu) c.4154C>T (p.Ser1385Leu) c.1286C>T (p.Ser429Leu) | COSMIC |
18 | g.33744171del | CA2701982262 | ASXL3 | c.4326del (p.Pro1444LeufsTer23) c.4323del (p.Pro1443LeufsTer23) c.4203del (p.Pro1403LeufsTer23) c.4299del (p.Pro1435LeufsTer23) c.4245del (p.Pro1417LeufsTer23) c.4206del (p.Pro1404LeufsTer23) c.4155del (p.Pro1387LeufsTer23) c.1287del (p.Pro431LeufsTer23) | |
18 | g.33744171A>C | CA503770524 | ASXL3 | c.4326A>C (p.Ser1442=) c.4323A>C (p.Ser1441=) c.4203A>C (p.Ser1401=) c.4299A>C (p.Ser1433=) c.4245A>C (p.Ser1415=) c.4206A>C (p.Ser1402=) c.4155A>C (p.Ser1385=) c.1287A>C (p.Ser429=) | |
18 | g.33744171A>G | CA503770528 | ASXL3 | c.4326A>G (p.Ser1442=) c.4323A>G (p.Ser1441=) c.4203A>G (p.Ser1401=) c.4299A>G (p.Ser1433=) c.4245A>G (p.Ser1415=) c.4206A>G (p.Ser1402=) c.4155A>G (p.Ser1385=) c.1287A>G (p.Ser429=) | gnomAD v4 |
18 | g.33744171A>T | CA503770525 | ASXL3 | c.4326A>T (p.Ser1442=) c.4323A>T (p.Ser1441=) c.4203A>T (p.Ser1401=) c.4299A>T (p.Ser1433=) c.4245A>T (p.Ser1415=) c.4206A>T (p.Ser1402=) c.4155A>T (p.Ser1385=) c.1287A>T (p.Ser429=) | |
18 | g.33744172G>A | CA402190674 | ASXL3 | c.4327G>A (p.Gly1443Arg) c.4324G>A (p.Gly1442Arg) c.4204G>A (p.Gly1402Arg) c.4300G>A (p.Gly1434Arg) c.4246G>A (p.Gly1416Arg) c.4207G>A (p.Gly1403Arg) c.4156G>A (p.Gly1386Arg) c.1288G>A (p.Gly430Arg) | gnomAD v4 |
18 | g.33744172G>C | CA402190675 | ASXL3 | c.4327G>C (p.Gly1443Arg) c.4324G>C (p.Gly1442Arg) c.4204G>C (p.Gly1402Arg) c.4300G>C (p.Gly1434Arg) c.4246G>C (p.Gly1416Arg) c.4207G>C (p.Gly1403Arg) c.4156G>C (p.Gly1386Arg) c.1288G>C (p.Gly430Arg) | |
18 | g.33744172G>T | CA402190676 | ASXL3 | c.4327G>T (p.Gly1443Trp) c.4324G>T (p.Gly1442Trp) c.4204G>T (p.Gly1402Trp) c.4300G>T (p.Gly1434Trp) c.4246G>T (p.Gly1416Trp) c.4207G>T (p.Gly1403Trp) c.4156G>T (p.Gly1386Trp) c.1288G>T (p.Gly430Trp) | |
18 | g.33744173G>A | CA8934237 | ASXL3 | c.4328G>A (p.Gly1443Glu) c.4325G>A (p.Gly1442Glu) c.4205G>A (p.Gly1402Glu) c.4301G>A (p.Gly1434Glu) c.4247G>A (p.Gly1416Glu) c.4208G>A (p.Gly1403Glu) c.4157G>A (p.Gly1386Glu) c.1289G>A (p.Gly430Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744173G>C | CA402190678 | ASXL3 | c.4328G>C (p.Gly1443Ala) c.4325G>C (p.Gly1442Ala) c.4205G>C (p.Gly1402Ala) c.4301G>C (p.Gly1434Ala) c.4247G>C (p.Gly1416Ala) c.4208G>C (p.Gly1403Ala) c.4157G>C (p.Gly1386Ala) c.1289G>C (p.Gly430Ala) | |
18 | g.33744173G= | CA2294858021 | ASXL3 | c.4328G= (p.Gly1443=) c.4325G= (p.Gly1442=) c.4205G= (p.Gly1402=) c.4301G= (p.Gly1434=) c.4247G= (p.Gly1416=) c.4208G= (p.Gly1403=) c.4157G= (p.Gly1386=) c.1289G= (p.Gly430=) | |
18 | g.33744173G>T | CA402190677 | ASXL3 | c.4328G>T (p.Gly1443Val) c.4325G>T (p.Gly1442Val) c.4205G>T (p.Gly1402Val) c.4301G>T (p.Gly1434Val) c.4247G>T (p.Gly1416Val) c.4208G>T (p.Gly1403Val) c.4157G>T (p.Gly1386Val) c.1289G>T (p.Gly430Val) | |
18 | g.33744174G>A | CA503770537 | ASXL3 | c.4329G>A (p.Gly1443=) c.4326G>A (p.Gly1442=) c.4206G>A (p.Gly1402=) c.4302G>A (p.Gly1434=) c.4248G>A (p.Gly1416=) c.4209G>A (p.Gly1403=) c.4158G>A (p.Gly1386=) c.1290G>A (p.Gly430=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744174G>C | CA503770539 | ASXL3 | c.4329G>C (p.Gly1443=) c.4326G>C (p.Gly1442=) c.4206G>C (p.Gly1402=) c.4302G>C (p.Gly1434=) c.4248G>C (p.Gly1416=) c.4209G>C (p.Gly1403=) c.4158G>C (p.Gly1386=) c.1290G>C (p.Gly430=) | |
18 | g.33744174G= | CA2294858022 | ASXL3 | c.4329G= (p.Gly1443=) c.4326G= (p.Gly1442=) c.4206G= (p.Gly1402=) c.4302G= (p.Gly1434=) c.4248G= (p.Gly1416=) c.4209G= (p.Gly1403=) c.4158G= (p.Gly1386=) c.1290G= (p.Gly430=) | |
18 | g.33744174G>T | CA503770540 | ASXL3 | c.4329G>T (p.Gly1443=) c.4326G>T (p.Gly1442=) c.4206G>T (p.Gly1402=) c.4302G>T (p.Gly1434=) c.4248G>T (p.Gly1416=) c.4209G>T (p.Gly1403=) c.4158G>T (p.Gly1386=) c.1290G>T (p.Gly430=) | |
18 | g.33744175C>A | CA402190679 | ASXL3 | c.4330C>A (p.Pro1444Thr) c.4327C>A (p.Pro1443Thr) c.4207C>A (p.Pro1403Thr) c.4303C>A (p.Pro1435Thr) c.4249C>A (p.Pro1417Thr) c.4210C>A (p.Pro1404Thr) c.4159C>A (p.Pro1387Thr) c.1291C>A (p.Pro431Thr) | dbSNP |
18 | g.33744175C= | CA2294858023 | ASXL3 | c.4330C= (p.Pro1444=) c.4327C= (p.Pro1443=) c.4207C= (p.Pro1403=) c.4303C= (p.Pro1435=) c.4249C= (p.Pro1417=) c.4210C= (p.Pro1404=) c.4159C= (p.Pro1387=) c.1291C= (p.Pro431=) | |
18 | g.33744175C>G | CA402190680 | ASXL3 | c.4330C>G (p.Pro1444Ala) c.4327C>G (p.Pro1443Ala) c.4207C>G (p.Pro1403Ala) c.4303C>G (p.Pro1435Ala) c.4249C>G (p.Pro1417Ala) c.4210C>G (p.Pro1404Ala) c.4159C>G (p.Pro1387Ala) c.1291C>G (p.Pro431Ala) | |
18 | g.33744175C>T | CA402190681 | ASXL3 | c.4330C>T (p.Pro1444Ser) c.4327C>T (p.Pro1443Ser) c.4207C>T (p.Pro1403Ser) c.4303C>T (p.Pro1435Ser) c.4249C>T (p.Pro1417Ser) c.4210C>T (p.Pro1404Ser) c.4159C>T (p.Pro1387Ser) c.1291C>T (p.Pro431Ser) | |
18 | g.33744176C>A | CA402190682 | ASXL3 | c.4331C>A (p.Pro1444His) c.4328C>A (p.Pro1443His) c.4208C>A (p.Pro1403His) c.4304C>A (p.Pro1435His) c.4250C>A (p.Pro1417His) c.4211C>A (p.Pro1404His) c.4160C>A (p.Pro1387His) c.1292C>A (p.Pro431His) | |
18 | g.33744176C= | CA2294858024 | ASXL3 | c.4331C= (p.Pro1444=) c.4328C= (p.Pro1443=) c.4208C= (p.Pro1403=) c.4304C= (p.Pro1435=) c.4250C= (p.Pro1417=) c.4211C= (p.Pro1404=) c.4160C= (p.Pro1387=) c.1292C= (p.Pro431=) | |
18 | g.33744176C>G | CA8934239 | ASXL3 | c.4331C>G (p.Pro1444Arg) c.4328C>G (p.Pro1443Arg) c.4208C>G (p.Pro1403Arg) c.4304C>G (p.Pro1435Arg) c.4250C>G (p.Pro1417Arg) c.4211C>G (p.Pro1404Arg) c.4160C>G (p.Pro1387Arg) c.1292C>G (p.Pro431Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744176C>T | CA8934238 | ASXL3 | c.4331C>T (p.Pro1444Leu) c.4328C>T (p.Pro1443Leu) c.4208C>T (p.Pro1403Leu) c.4304C>T (p.Pro1435Leu) c.4250C>T (p.Pro1417Leu) c.4211C>T (p.Pro1404Leu) c.4160C>T (p.Pro1387Leu) c.1292C>T (p.Pro431Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744177T>A | CA503770543 | ASXL3 | c.4332T>A (p.Pro1444=) c.4329T>A (p.Pro1443=) c.4209T>A (p.Pro1403=) c.4305T>A (p.Pro1435=) c.4251T>A (p.Pro1417=) c.4212T>A (p.Pro1404=) c.4161T>A (p.Pro1387=) c.1293T>A (p.Pro431=) | |
18 | g.33744177T>C | CA503770545 | ASXL3 | c.4332T>C (p.Pro1444=) c.4329T>C (p.Pro1443=) c.4209T>C (p.Pro1403=) c.4305T>C (p.Pro1435=) c.4251T>C (p.Pro1417=) c.4212T>C (p.Pro1404=) c.4161T>C (p.Pro1387=) c.1293T>C (p.Pro431=) | |
18 | g.33744177T>G | CA503770547 | ASXL3 | c.4332T>G (p.Pro1444=) c.4329T>G (p.Pro1443=) c.4209T>G (p.Pro1403=) c.4305T>G (p.Pro1435=) c.4251T>G (p.Pro1417=) c.4212T>G (p.Pro1404=) c.4161T>G (p.Pro1387=) c.1293T>G (p.Pro431=) | |
18 | g.33744178C>A | CA503770548 | ASXL3 | c.4333C>A (p.Arg1445=) c.4330C>A (p.Arg1444=) c.4210C>A (p.Arg1404=) c.4306C>A (p.Arg1436=) c.4252C>A (p.Arg1418=) c.4213C>A (p.Arg1405=) c.4162C>A (p.Arg1388=) c.1294C>A (p.Arg432=) | COSMIC |
18 | g.33744178C= | CA2294858025 | ASXL3 | c.4333C= (p.Arg1445=) c.4330C= (p.Arg1444=) c.4210C= (p.Arg1404=) c.4306C= (p.Arg1436=) c.4252C= (p.Arg1418=) c.4213C= (p.Arg1405=) c.4162C= (p.Arg1388=) c.1294C= (p.Arg432=) | |
18 | g.33744178C>G | CA402190684 | ASXL3 | c.4333C>G (p.Arg1445Gly) c.4330C>G (p.Arg1444Gly) c.4210C>G (p.Arg1404Gly) c.4306C>G (p.Arg1436Gly) c.4252C>G (p.Arg1418Gly) c.4213C>G (p.Arg1405Gly) c.4162C>G (p.Arg1388Gly) c.1294C>G (p.Arg432Gly) | |
18 | g.33744178C>T | CA402190683 | ASXL3 | c.4333C>T (p.Arg1445Ter) c.4330C>T (p.Arg1444Ter) c.4210C>T (p.Arg1404Ter) c.4306C>T (p.Arg1436Ter) c.4252C>T (p.Arg1418Ter) c.4213C>T (p.Arg1405Ter) c.4162C>T (p.Arg1388Ter) c.1294C>T (p.Arg432Ter) | ClinVar dbSNP |
18 | g.33744179G>A | CA8934240 | ASXL3 | c.4334G>A (p.Arg1445Gln) c.4331G>A (p.Arg1444Gln) c.4211G>A (p.Arg1404Gln) c.4307G>A (p.Arg1436Gln) c.4253G>A (p.Arg1418Gln) c.4214G>A (p.Arg1405Gln) c.4163G>A (p.Arg1388Gln) c.1295G>A (p.Arg432Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744179G>C | CA402190685 | ASXL3 | c.4334G>C (p.Arg1445Pro) c.4331G>C (p.Arg1444Pro) c.4211G>C (p.Arg1404Pro) c.4307G>C (p.Arg1436Pro) c.4253G>C (p.Arg1418Pro) c.4214G>C (p.Arg1405Pro) c.4163G>C (p.Arg1388Pro) c.1295G>C (p.Arg432Pro) | |
18 | g.33744179G= | CA2294858026 | ASXL3 | c.4334G= (p.Arg1445=) c.4331G= (p.Arg1444=) c.4211G= (p.Arg1404=) c.4307G= (p.Arg1436=) c.4253G= (p.Arg1418=) c.4214G= (p.Arg1405=) c.4163G= (p.Arg1388=) c.1295G= (p.Arg432=) | |
18 | g.33744179G>T | CA402190686 | ASXL3 | c.4334G>T (p.Arg1445Leu) c.4331G>T (p.Arg1444Leu) c.4211G>T (p.Arg1404Leu) c.4307G>T (p.Arg1436Leu) c.4253G>T (p.Arg1418Leu) c.4214G>T (p.Arg1405Leu) c.4163G>T (p.Arg1388Leu) c.1295G>T (p.Arg432Leu) | |
18 | g.33744180A>C | CA503770551 | ASXL3 | c.4335A>C (p.Arg1445=) c.4332A>C (p.Arg1444=) c.4212A>C (p.Arg1404=) c.4308A>C (p.Arg1436=) c.4254A>C (p.Arg1418=) c.4215A>C (p.Arg1405=) c.4164A>C (p.Arg1388=) c.1296A>C (p.Arg432=) | |
18 | g.33744180A>G | CA503770552 | ASXL3 | c.4335A>G (p.Arg1445=) c.4332A>G (p.Arg1444=) c.4212A>G (p.Arg1404=) c.4308A>G (p.Arg1436=) c.4254A>G (p.Arg1418=) c.4215A>G (p.Arg1405=) c.4164A>G (p.Arg1388=) c.1296A>G (p.Arg432=) | |
18 | g.33744180A>T | CA503770554 | ASXL3 | c.4335A>T (p.Arg1445=) c.4332A>T (p.Arg1444=) c.4212A>T (p.Arg1404=) c.4308A>T (p.Arg1436=) c.4254A>T (p.Arg1418=) c.4215A>T (p.Arg1405=) c.4164A>T (p.Arg1388=) c.1296A>T (p.Arg432=) | |
18 | g.33744181A>C | CA402190687 | ASXL3 | c.4336A>C (p.Asn1446His) c.4333A>C (p.Asn1445His) c.4213A>C (p.Asn1405His) c.4309A>C (p.Asn1437His) c.4255A>C (p.Asn1419His) c.4216A>C (p.Asn1406His) c.4165A>C (p.Asn1389His) c.1297A>C (p.Asn433His) | |
18 | g.33744181A>G | CA402190688 | ASXL3 | c.4336A>G (p.Asn1446Asp) c.4333A>G (p.Asn1445Asp) c.4213A>G (p.Asn1405Asp) c.4309A>G (p.Asn1437Asp) c.4255A>G (p.Asn1419Asp) c.4216A>G (p.Asn1406Asp) c.4165A>G (p.Asn1389Asp) c.1297A>G (p.Asn433Asp) | |
18 | g.33744181A>T | CA402190689 | ASXL3 | c.4336A>T (p.Asn1446Tyr) c.4333A>T (p.Asn1445Tyr) c.4213A>T (p.Asn1405Tyr) c.4309A>T (p.Asn1437Tyr) c.4255A>T (p.Asn1419Tyr) c.4216A>T (p.Asn1406Tyr) c.4165A>T (p.Asn1389Tyr) c.1297A>T (p.Asn433Tyr) | |
18 | g.33744182A= | CA2294858027 | ASXL3 | c.4337A= (p.Asn1446=) c.4334A= (p.Asn1445=) c.4214A= (p.Asn1405=) c.4310A= (p.Asn1437=) c.4256A= (p.Asn1419=) c.4217A= (p.Asn1406=) c.4166A= (p.Asn1389=) c.1298A= (p.Asn433=) | |
18 | g.33744182A>C | CA402190690 | ASXL3 | c.4337A>C (p.Asn1446Thr) c.4334A>C (p.Asn1445Thr) c.4214A>C (p.Asn1405Thr) c.4310A>C (p.Asn1437Thr) c.4256A>C (p.Asn1419Thr) c.4217A>C (p.Asn1406Thr) c.4166A>C (p.Asn1389Thr) c.1298A>C (p.Asn433Thr) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744182A>G | CA402190692 | ASXL3 | c.4337A>G (p.Asn1446Ser) c.4334A>G (p.Asn1445Ser) c.4214A>G (p.Asn1405Ser) c.4310A>G (p.Asn1437Ser) c.4256A>G (p.Asn1419Ser) c.4217A>G (p.Asn1406Ser) c.4166A>G (p.Asn1389Ser) c.1298A>G (p.Asn433Ser) | |
18 | g.33744182A>T | CA402190691 | ASXL3 | c.4337A>T (p.Asn1446Ile) c.4334A>T (p.Asn1445Ile) c.4214A>T (p.Asn1405Ile) c.4310A>T (p.Asn1437Ile) c.4256A>T (p.Asn1419Ile) c.4217A>T (p.Asn1406Ile) c.4166A>T (p.Asn1389Ile) c.1298A>T (p.Asn433Ile) | |
18 | g.33744183C>A | CA402190693 | ASXL3 | c.4338C>A (p.Asn1446Lys) c.4335C>A (p.Asn1445Lys) c.4215C>A (p.Asn1405Lys) c.4311C>A (p.Asn1437Lys) c.4257C>A (p.Asn1419Lys) c.4218C>A (p.Asn1406Lys) c.4167C>A (p.Asn1389Lys) c.1299C>A (p.Asn433Lys) | |
18 | g.33744183C= | CA2294858029 | ASXL3 | c.4338C= (p.Asn1446=) c.4335C= (p.Asn1445=) c.4215C= (p.Asn1405=) c.4311C= (p.Asn1437=) c.4257C= (p.Asn1419=) c.4218C= (p.Asn1406=) c.4167C= (p.Asn1389=) c.1299C= (p.Asn433=) | |
18 | g.33744183C>G | CA402190694 | ASXL3 | c.4338C>G (p.Asn1446Lys) c.4335C>G (p.Asn1445Lys) c.4215C>G (p.Asn1405Lys) c.4311C>G (p.Asn1437Lys) c.4257C>G (p.Asn1419Lys) c.4218C>G (p.Asn1406Lys) c.4167C>G (p.Asn1389Lys) c.1299C>G (p.Asn433Lys) | |
18 | g.33744183C>T | CA503770563 | ASXL3 | c.4338C>T (p.Asn1446=) c.4335C>T (p.Asn1445=) c.4215C>T (p.Asn1405=) c.4311C>T (p.Asn1437=) c.4257C>T (p.Asn1419=) c.4218C>T (p.Asn1406=) c.4167C>T (p.Asn1389=) c.1299C>T (p.Asn433=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744183_33744185delinsCAG | CA2294858028 | ASXL3 | c.4338_4340delinsCAG (p.Asn1446=) c.4335_4337delinsCAG (p.Asn1445=) c.4215_4217delinsCAG (p.Asn1405=) c.4311_4313delinsCAG (p.Asn1437=) c.4257_4259delinsCAG (p.Asn1419=) c.4218_4220delinsCAG (p.Asn1406=) c.4167_4169delinsCAG (p.Asn1389=) c.1299_1301delinsCAG (p.Asn433=) | |
18 | g.33744184A= | CA2294858030 | ASXL3 | c.4339A= (p.Arg1447=) c.4336A= (p.Arg1446=) c.4216A= (p.Arg1406=) c.4312A= (p.Arg1438=) c.4258A= (p.Arg1420=) c.4219A= (p.Arg1407=) c.4168A= (p.Arg1390=) c.1300A= (p.Arg434=) | |
18 | g.33744184A>C | CA503770564 | ASXL3 | c.4339A>C (p.Arg1447=) c.4336A>C (p.Arg1446=) c.4216A>C (p.Arg1406=) c.4312A>C (p.Arg1438=) c.4258A>C (p.Arg1420=) c.4219A>C (p.Arg1407=) c.4168A>C (p.Arg1390=) c.1300A>C (p.Arg434=) | gnomAD v4 |
18 | g.33744184A>G | CA402190695 | ASXL3 | c.4339A>G (p.Arg1447Gly) c.4336A>G (p.Arg1446Gly) c.4216A>G (p.Arg1406Gly) c.4312A>G (p.Arg1438Gly) c.4258A>G (p.Arg1420Gly) c.4219A>G (p.Arg1407Gly) c.4168A>G (p.Arg1390Gly) c.1300A>G (p.Arg434Gly) | gnomAD v4 |
18 | g.33744184A>T | CA8934241 | ASXL3 | c.4339A>T (p.Arg1447Trp) c.4336A>T (p.Arg1446Trp) c.4216A>T (p.Arg1406Trp) c.4312A>T (p.Arg1438Trp) c.4258A>T (p.Arg1420Trp) c.4219A>T (p.Arg1407Trp) c.4168A>T (p.Arg1390Trp) c.1300A>T (p.Arg434Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744184_33744185del | CA915952507 | ASXL3 | c.4339_4340del (p.Arg1447GlyfsTer3) c.4336_4337del (p.Arg1446GlyfsTer3) c.4216_4217del (p.Arg1406GlyfsTer3) c.4312_4313del (p.Arg1438GlyfsTer3) c.4258_4259del (p.Arg1420GlyfsTer3) c.4219_4220del (p.Arg1407GlyfsTer3) c.4168_4169del (p.Arg1390GlyfsTer3) c.1300_1301del (p.Arg434GlyfsTer3) | ClinVar dbSNP |
18 | g.33744185G>A | CA402190696 | ASXL3 | c.4340G>A (p.Arg1447Lys) c.4337G>A (p.Arg1446Lys) c.4217G>A (p.Arg1406Lys) c.4313G>A (p.Arg1438Lys) c.4259G>A (p.Arg1420Lys) c.4220G>A (p.Arg1407Lys) c.4169G>A (p.Arg1390Lys) c.1301G>A (p.Arg434Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744185G>C | CA402190697 | ASXL3 | c.4340G>C (p.Arg1447Thr) c.4337G>C (p.Arg1446Thr) c.4217G>C (p.Arg1406Thr) c.4313G>C (p.Arg1438Thr) c.4259G>C (p.Arg1420Thr) c.4220G>C (p.Arg1407Thr) c.4169G>C (p.Arg1390Thr) c.1301G>C (p.Arg434Thr) | |
18 | g.33744185G= | CA2294858031 | ASXL3 | c.4340G= (p.Arg1447=) c.4337G= (p.Arg1446=) c.4217G= (p.Arg1406=) c.4313G= (p.Arg1438=) c.4259G= (p.Arg1420=) c.4220G= (p.Arg1407=) c.4169G= (p.Arg1390=) c.1301G= (p.Arg434=) | |
18 | g.33744185G>T | CA402190698 | ASXL3 | c.4340G>T (p.Arg1447Met) c.4337G>T (p.Arg1446Met) c.4217G>T (p.Arg1406Met) c.4313G>T (p.Arg1438Met) c.4259G>T (p.Arg1420Met) c.4220G>T (p.Arg1407Met) c.4169G>T (p.Arg1390Met) c.1301G>T (p.Arg434Met) | |
18 | g.33744186G>A | CA503770567 | ASXL3 | c.4341G>A (p.Arg1447=) c.4338G>A (p.Arg1446=) c.4218G>A (p.Arg1406=) c.4314G>A (p.Arg1438=) c.4260G>A (p.Arg1420=) c.4221G>A (p.Arg1407=) c.4170G>A (p.Arg1390=) c.1302G>A (p.Arg434=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744186G>C | CA402190699 | ASXL3 | c.4341G>C (p.Arg1447Ser) c.4338G>C (p.Arg1446Ser) c.4218G>C (p.Arg1406Ser) c.4314G>C (p.Arg1438Ser) c.4260G>C (p.Arg1420Ser) c.4221G>C (p.Arg1407Ser) c.4170G>C (p.Arg1390Ser) c.1302G>C (p.Arg434Ser) | |
18 | g.33744186G= | CA2294858032 | ASXL3 | c.4341G= (p.Arg1447=) c.4338G= (p.Arg1446=) c.4218G= (p.Arg1406=) c.4314G= (p.Arg1438=) c.4260G= (p.Arg1420=) c.4221G= (p.Arg1407=) c.4170G= (p.Arg1390=) c.1302G= (p.Arg434=) | |
18 | g.33744186G>T | CA402190700 | ASXL3 | c.4341G>T (p.Arg1447Ser) c.4338G>T (p.Arg1446Ser) c.4218G>T (p.Arg1406Ser) c.4314G>T (p.Arg1438Ser) c.4260G>T (p.Arg1420Ser) c.4221G>T (p.Arg1407Ser) c.4170G>T (p.Arg1390Ser) c.1302G>T (p.Arg434Ser) | ClinVar dbSNP |
18 | g.33744187G>A | CA402190701 | ASXL3 | c.4342G>A (p.Ala1448Thr) c.4339G>A (p.Ala1447Thr) c.4219G>A (p.Ala1407Thr) c.4315G>A (p.Ala1439Thr) c.4261G>A (p.Ala1421Thr) c.4222G>A (p.Ala1408Thr) c.4171G>A (p.Ala1391Thr) c.1303G>A (p.Ala435Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744187G>C | CA402190702 | ASXL3 | c.4342G>C (p.Ala1448Pro) c.4339G>C (p.Ala1447Pro) c.4219G>C (p.Ala1407Pro) c.4315G>C (p.Ala1439Pro) c.4261G>C (p.Ala1421Pro) c.4222G>C (p.Ala1408Pro) c.4171G>C (p.Ala1391Pro) c.1303G>C (p.Ala435Pro) | |
18 | g.33744187G= | CA2294858033 | ASXL3 | c.4342G= (p.Ala1448=) c.4339G= (p.Ala1447=) c.4219G= (p.Ala1407=) c.4315G= (p.Ala1439=) c.4261G= (p.Ala1421=) c.4222G= (p.Ala1408=) c.4171G= (p.Ala1391=) c.1303G= (p.Ala435=) | |
18 | g.33744187G>T | CA8934242 | ASXL3 | c.4342G>T (p.Ala1448Ser) c.4339G>T (p.Ala1447Ser) c.4219G>T (p.Ala1407Ser) c.4315G>T (p.Ala1439Ser) c.4261G>T (p.Ala1421Ser) c.4222G>T (p.Ala1408Ser) c.4171G>T (p.Ala1391Ser) c.1303G>T (p.Ala435Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744188C>A | CA402190704 | ASXL3 | c.4343C>A (p.Ala1448Glu) c.4340C>A (p.Ala1447Glu) c.4220C>A (p.Ala1407Glu) c.4316C>A (p.Ala1439Glu) c.4262C>A (p.Ala1421Glu) c.4223C>A (p.Ala1408Glu) c.4172C>A (p.Ala1391Glu) c.1304C>A (p.Ala435Glu) | |
18 | g.33744188C>G | CA402190705 | ASXL3 | c.4343C>G (p.Ala1448Gly) c.4340C>G (p.Ala1447Gly) c.4220C>G (p.Ala1407Gly) c.4316C>G (p.Ala1439Gly) c.4262C>G (p.Ala1421Gly) c.4223C>G (p.Ala1408Gly) c.4172C>G (p.Ala1391Gly) c.1304C>G (p.Ala435Gly) | |
18 | g.33744188C>T | CA402190703 | ASXL3 | c.4343C>T (p.Ala1448Val) c.4340C>T (p.Ala1447Val) c.4220C>T (p.Ala1407Val) c.4316C>T (p.Ala1439Val) c.4262C>T (p.Ala1421Val) c.4223C>T (p.Ala1408Val) c.4172C>T (p.Ala1391Val) c.1304C>T (p.Ala435Val) | |
18 | g.33744189A>C | CA503770577 | ASXL3 | c.4344A>C (p.Ala1448=) c.4341A>C (p.Ala1447=) c.4221A>C (p.Ala1407=) c.4317A>C (p.Ala1439=) c.4263A>C (p.Ala1421=) c.4224A>C (p.Ala1408=) c.4173A>C (p.Ala1391=) c.1305A>C (p.Ala435=) | |
18 | g.33744189A>G | CA503770578 | ASXL3 | c.4344A>G (p.Ala1448=) c.4341A>G (p.Ala1447=) c.4221A>G (p.Ala1407=) c.4317A>G (p.Ala1439=) c.4263A>G (p.Ala1421=) c.4224A>G (p.Ala1408=) c.4173A>G (p.Ala1391=) c.1305A>G (p.Ala435=) | gnomAD v4 |
18 | g.33744189A>T | CA503770579 | ASXL3 | c.4344A>T (p.Ala1448=) c.4341A>T (p.Ala1447=) c.4221A>T (p.Ala1407=) c.4317A>T (p.Ala1439=) c.4263A>T (p.Ala1421=) c.4224A>T (p.Ala1408=) c.4173A>T (p.Ala1391=) c.1305A>T (p.Ala435=) |