| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.33744208C>A | CA402190746 | ASXL3 | c.4363C>A (p.Gln1455Lys) c.4360C>A (p.Gln1454Lys) c.4240C>A (p.Gln1414Lys) c.4336C>A (p.Gln1446Lys) c.4282C>A (p.Gln1428Lys) c.4243C>A (p.Gln1415Lys) c.4192C>A (p.Gln1398Lys) c.1324C>A (p.Gln442Lys) | |
| 18 | g.33744208C= | CA2294858043 | ASXL3 | c.4363C= (p.Gln1455=) c.4360C= (p.Gln1454=) c.4240C= (p.Gln1414=) c.4336C= (p.Gln1446=) c.4282C= (p.Gln1428=) c.4243C= (p.Gln1415=) c.4192C= (p.Gln1398=) c.1324C= (p.Gln442=) | |
| 18 | g.33744208C>G | CA402190747 | ASXL3 | c.4363C>G (p.Gln1455Glu) c.4360C>G (p.Gln1454Glu) c.4240C>G (p.Gln1414Glu) c.4336C>G (p.Gln1446Glu) c.4282C>G (p.Gln1428Glu) c.4243C>G (p.Gln1415Glu) c.4192C>G (p.Gln1398Glu) c.1324C>G (p.Gln442Glu) | |
| 18 | g.33744208C>T | CA16620687 | ASXL3 | c.4363C>T (p.Gln1455Ter) c.4360C>T (p.Gln1454Ter) c.4240C>T (p.Gln1414Ter) c.4336C>T (p.Gln1446Ter) c.4282C>T (p.Gln1428Ter) c.4243C>T (p.Gln1415Ter) c.4192C>T (p.Gln1398Ter) c.1324C>T (p.Gln442Ter) | ClinVar dbSNP |
| 18 | g.33744209A>C | CA402190749 | ASXL3 | c.4364A>C (p.Gln1455Pro) c.4361A>C (p.Gln1454Pro) c.4241A>C (p.Gln1414Pro) c.4337A>C (p.Gln1446Pro) c.4283A>C (p.Gln1428Pro) c.4244A>C (p.Gln1415Pro) c.4193A>C (p.Gln1398Pro) c.1325A>C (p.Gln442Pro) | |
| 18 | g.33744209A>G | CA402190750 | ASXL3 | c.4364A>G (p.Gln1455Arg) c.4361A>G (p.Gln1454Arg) c.4241A>G (p.Gln1414Arg) c.4337A>G (p.Gln1446Arg) c.4283A>G (p.Gln1428Arg) c.4244A>G (p.Gln1415Arg) c.4193A>G (p.Gln1398Arg) c.1325A>G (p.Gln442Arg) | |
| 18 | g.33744209A>T | CA402190748 | ASXL3 | c.4364A>T (p.Gln1455Leu) c.4361A>T (p.Gln1454Leu) c.4241A>T (p.Gln1414Leu) c.4337A>T (p.Gln1446Leu) c.4283A>T (p.Gln1428Leu) c.4244A>T (p.Gln1415Leu) c.4193A>T (p.Gln1398Leu) c.1325A>T (p.Gln442Leu) | |
| 18 | g.33744210G>A | CA503770630 | ASXL3 | c.4365G>A (p.Gln1455=) c.4362G>A (p.Gln1454=) c.4242G>A (p.Gln1414=) c.4338G>A (p.Gln1446=) c.4284G>A (p.Gln1428=) c.4245G>A (p.Gln1415=) c.4194G>A (p.Gln1398=) c.1326G>A (p.Gln442=) | gnomAD v4 |
| 18 | g.33744210G>C | CA402190751 | ASXL3 | c.4365G>C (p.Gln1455His) c.4362G>C (p.Gln1454His) c.4242G>C (p.Gln1414His) c.4338G>C (p.Gln1446His) c.4284G>C (p.Gln1428His) c.4245G>C (p.Gln1415His) c.4194G>C (p.Gln1398His) c.1326G>C (p.Gln442His) | |
| 18 | g.33744210G>T | CA402190752 | ASXL3 | c.4365G>T (p.Gln1455His) c.4362G>T (p.Gln1454His) c.4242G>T (p.Gln1414His) c.4338G>T (p.Gln1446His) c.4284G>T (p.Gln1428His) c.4245G>T (p.Gln1415His) c.4194G>T (p.Gln1398His) c.1326G>T (p.Gln442His) | |
| 18 | g.33744211C>A | CA402190753 | ASXL3 | c.4366C>A (p.Gln1456Lys) c.4363C>A (p.Gln1455Lys) c.4243C>A (p.Gln1415Lys) c.4339C>A (p.Gln1447Lys) c.4285C>A (p.Gln1429Lys) c.4246C>A (p.Gln1416Lys) c.4195C>A (p.Gln1399Lys) c.1327C>A (p.Gln443Lys) | |
| 18 | g.33744211C>G | CA402190754 | ASXL3 | c.4366C>G (p.Gln1456Glu) c.4363C>G (p.Gln1455Glu) c.4243C>G (p.Gln1415Glu) c.4339C>G (p.Gln1447Glu) c.4285C>G (p.Gln1429Glu) c.4246C>G (p.Gln1416Glu) c.4195C>G (p.Gln1399Glu) c.1327C>G (p.Gln443Glu) | |
| 18 | g.33744211C>T | CA402190755 | ASXL3 | c.4366C>T (p.Gln1456Ter) c.4363C>T (p.Gln1455Ter) c.4243C>T (p.Gln1415Ter) c.4339C>T (p.Gln1447Ter) c.4285C>T (p.Gln1429Ter) c.4246C>T (p.Gln1416Ter) c.4195C>T (p.Gln1399Ter) c.1327C>T (p.Gln443Ter) | |
| 18 | g.33744212A>C | CA402190758 | ASXL3 | c.4367A>C (p.Gln1456Pro) c.4364A>C (p.Gln1455Pro) c.4244A>C (p.Gln1415Pro) c.4340A>C (p.Gln1447Pro) c.4286A>C (p.Gln1429Pro) c.4247A>C (p.Gln1416Pro) c.4196A>C (p.Gln1399Pro) c.1328A>C (p.Gln443Pro) | |
| 18 | g.33744212A>G | CA402190756 | ASXL3 | c.4367A>G (p.Gln1456Arg) c.4364A>G (p.Gln1455Arg) c.4244A>G (p.Gln1415Arg) c.4340A>G (p.Gln1447Arg) c.4286A>G (p.Gln1429Arg) c.4247A>G (p.Gln1416Arg) c.4196A>G (p.Gln1399Arg) c.1328A>G (p.Gln443Arg) | |
| 18 | g.33744212A>T | CA402190757 | ASXL3 | c.4367A>T (p.Gln1456Leu) c.4364A>T (p.Gln1455Leu) c.4244A>T (p.Gln1415Leu) c.4340A>T (p.Gln1447Leu) c.4286A>T (p.Gln1429Leu) c.4247A>T (p.Gln1416Leu) c.4196A>T (p.Gln1399Leu) c.1328A>T (p.Gln443Leu) | |
| 18 | g.33744213A>C | CA402190759 | ASXL3 | c.4368A>C (p.Gln1456His) c.4365A>C (p.Gln1455His) c.4245A>C (p.Gln1415His) c.4341A>C (p.Gln1447His) c.4287A>C (p.Gln1429His) c.4248A>C (p.Gln1416His) c.4197A>C (p.Gln1399His) c.1329A>C (p.Gln443His) | |
| 18 | g.33744213A>G | CA503770639 | ASXL3 | c.4368A>G (p.Gln1456=) c.4365A>G (p.Gln1455=) c.4245A>G (p.Gln1415=) c.4341A>G (p.Gln1447=) c.4287A>G (p.Gln1429=) c.4248A>G (p.Gln1416=) c.4197A>G (p.Gln1399=) c.1329A>G (p.Gln443=) | |
| 18 | g.33744213A>T | CA402190760 | ASXL3 | c.4368A>T (p.Gln1456His) c.4365A>T (p.Gln1455His) c.4245A>T (p.Gln1415His) c.4341A>T (p.Gln1447His) c.4287A>T (p.Gln1429His) c.4248A>T (p.Gln1416His) c.4197A>T (p.Gln1399His) c.1329A>T (p.Gln443His) | |
| 18 | g.33744214C>A | CA402190761 | ASXL3 | c.4369C>A (p.Pro1457Thr) c.4366C>A (p.Pro1456Thr) c.4246C>A (p.Pro1416Thr) c.4342C>A (p.Pro1448Thr) c.4288C>A (p.Pro1430Thr) c.4249C>A (p.Pro1417Thr) c.4198C>A (p.Pro1400Thr) c.1330C>A (p.Pro444Thr) | |
| 18 | g.33744214C= | CA2294858044 | ASXL3 | c.4369C= (p.Pro1457=) c.4366C= (p.Pro1456=) c.4246C= (p.Pro1416=) c.4342C= (p.Pro1448=) c.4288C= (p.Pro1430=) c.4249C= (p.Pro1417=) c.4198C= (p.Pro1400=) c.1330C= (p.Pro444=) | |
| 18 | g.33744214C>G | CA8934246 | ASXL3 | c.4369C>G (p.Pro1457Ala) c.4366C>G (p.Pro1456Ala) c.4246C>G (p.Pro1416Ala) c.4342C>G (p.Pro1448Ala) c.4288C>G (p.Pro1430Ala) c.4249C>G (p.Pro1417Ala) c.4198C>G (p.Pro1400Ala) c.1330C>G (p.Pro444Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33744214C>T | CA402190762 | ASXL3 | c.4369C>T (p.Pro1457Ser) c.4366C>T (p.Pro1456Ser) c.4246C>T (p.Pro1416Ser) c.4342C>T (p.Pro1448Ser) c.4288C>T (p.Pro1430Ser) c.4249C>T (p.Pro1417Ser) c.4198C>T (p.Pro1400Ser) c.1330C>T (p.Pro444Ser) | |
| 18 | g.33744214_33744229delinsCCACCAGGGGGCTTTG | CA2294858045 | ASXL3 | c.4369_4384delinsCCACCAGGGGGCTTTG (p.Pro1457=) c.4366_4381delinsCCACCAGGGGGCTTTG (p.Pro1456=) c.4246_4261delinsCCACCAGGGGGCTTTG (p.Pro1416=) c.4342_4357delinsCCACCAGGGGGCTTTG (p.Pro1448=) c.4288_4303delinsCCACCAGGGGGCTTTG (p.Pro1430=) c.4249_4264delinsCCACCAGGGGGCTTTG (p.Pro1417=) c.4198_4213delinsCCACCAGGGGGCTTTG (p.Pro1400=) c.1330_1345delinsCCACCAGGGGGCTTTG (p.Pro444=) | |
| 18 | g.33744215C>A | CA402190763 | ASXL3 | c.4370C>A (p.Pro1457Gln) c.4367C>A (p.Pro1456Gln) c.4247C>A (p.Pro1416Gln) c.4343C>A (p.Pro1448Gln) c.4289C>A (p.Pro1430Gln) c.4250C>A (p.Pro1417Gln) c.4199C>A (p.Pro1400Gln) c.1331C>A (p.Pro444Gln) | |
| 18 | g.33744215C>G | CA402190764 | ASXL3 | c.4370C>G (p.Pro1457Arg) c.4367C>G (p.Pro1456Arg) c.4247C>G (p.Pro1416Arg) c.4343C>G (p.Pro1448Arg) c.4289C>G (p.Pro1430Arg) c.4250C>G (p.Pro1417Arg) c.4199C>G (p.Pro1400Arg) c.1331C>G (p.Pro444Arg) | |
| 18 | g.33744215C>T | CA402190765 | ASXL3 | c.4370C>T (p.Pro1457Leu) c.4367C>T (p.Pro1456Leu) c.4247C>T (p.Pro1416Leu) c.4343C>T (p.Pro1448Leu) c.4289C>T (p.Pro1430Leu) c.4250C>T (p.Pro1417Leu) c.4199C>T (p.Pro1400Leu) c.1331C>T (p.Pro444Leu) | ClinVar dbSNP gnomAD v4 |
| 18 | g.33744221_33744235del | CA8934247 | ASXL3 | c.4376_4390del (p.Gly1459_Pro1463del) c.4373_4387del (p.Gly1458_Pro1462del) c.4253_4267del (p.Gly1418_Pro1422del) c.4349_4363del (p.Gly1450_Pro1454del) c.4295_4309del (p.Gly1432_Pro1436del) c.4256_4270del (p.Gly1419_Pro1423del) c.4205_4219del (p.Gly1402_Pro1406del) c.1337_1351del (p.Gly446_Pro450del) | dbSNP ExAC gnomAD v4 |
| 18 | g.33744216A>C | CA503770068 | ASXL3 | c.4371A>C (p.Pro1457=) c.4368A>C (p.Pro1456=) c.4248A>C (p.Pro1416=) c.4344A>C (p.Pro1448=) c.4290A>C (p.Pro1430=) c.4251A>C (p.Pro1417=) c.4200A>C (p.Pro1400=) c.1332A>C (p.Pro444=) | |
| 18 | g.33744216A>G | CA503770097 | ASXL3 | c.4371A>G (p.Pro1457=) c.4368A>G (p.Pro1456=) c.4248A>G (p.Pro1416=) c.4344A>G (p.Pro1448=) c.4290A>G (p.Pro1430=) c.4251A>G (p.Pro1417=) c.4200A>G (p.Pro1400=) c.1332A>G (p.Pro444=) | |
| 18 | g.33744216A>T | CA503770064 | ASXL3 | c.4371A>T (p.Pro1457=) c.4368A>T (p.Pro1456=) c.4248A>T (p.Pro1416=) c.4344A>T (p.Pro1448=) c.4290A>T (p.Pro1430=) c.4251A>T (p.Pro1417=) c.4200A>T (p.Pro1400=) c.1332A>T (p.Pro444=) | |
| 18 | g.33744217C>A | CA402190768 | ASXL3 | c.4372C>A (p.Pro1458Thr) c.4369C>A (p.Pro1457Thr) c.4249C>A (p.Pro1417Thr) c.4345C>A (p.Pro1449Thr) c.4291C>A (p.Pro1431Thr) c.4252C>A (p.Pro1418Thr) c.4201C>A (p.Pro1401Thr) c.1333C>A (p.Pro445Thr) | |
| 18 | g.33744217C>G | CA402190766 | ASXL3 | c.4372C>G (p.Pro1458Ala) c.4369C>G (p.Pro1457Ala) c.4249C>G (p.Pro1417Ala) c.4345C>G (p.Pro1449Ala) c.4291C>G (p.Pro1431Ala) c.4252C>G (p.Pro1418Ala) c.4201C>G (p.Pro1401Ala) c.1333C>G (p.Pro445Ala) | gnomAD v4 |
| 18 | g.33744217C>T | CA402190767 | ASXL3 | c.4372C>T (p.Pro1458Ser) c.4369C>T (p.Pro1457Ser) c.4249C>T (p.Pro1417Ser) c.4345C>T (p.Pro1449Ser) c.4291C>T (p.Pro1431Ser) c.4252C>T (p.Pro1418Ser) c.4201C>T (p.Pro1401Ser) c.1333C>T (p.Pro445Ser) | |
| 18 | g.33744218C>A | CA402190769 | ASXL3 | c.4373C>A (p.Pro1458Gln) c.4370C>A (p.Pro1457Gln) c.4250C>A (p.Pro1417Gln) c.4346C>A (p.Pro1449Gln) c.4292C>A (p.Pro1431Gln) c.4253C>A (p.Pro1418Gln) c.4202C>A (p.Pro1401Gln) c.1334C>A (p.Pro445Gln) | |
| 18 | g.33744218C= | CA2294858046 | ASXL3 | c.4373C= (p.Pro1458=) c.4370C= (p.Pro1457=) c.4250C= (p.Pro1417=) c.4346C= (p.Pro1449=) c.4292C= (p.Pro1431=) c.4253C= (p.Pro1418=) c.4202C= (p.Pro1401=) c.1334C= (p.Pro445=) | |
| 18 | g.33744218C>G | CA402190770 | ASXL3 | c.4373C>G (p.Pro1458Arg) c.4370C>G (p.Pro1457Arg) c.4250C>G (p.Pro1417Arg) c.4346C>G (p.Pro1449Arg) c.4292C>G (p.Pro1431Arg) c.4253C>G (p.Pro1418Arg) c.4202C>G (p.Pro1401Arg) c.1334C>G (p.Pro445Arg) | dbSNP |
| 18 | g.33744218C>T | CA402190771 | ASXL3 | c.4373C>T (p.Pro1458Leu) c.4370C>T (p.Pro1457Leu) c.4250C>T (p.Pro1417Leu) c.4346C>T (p.Pro1449Leu) c.4292C>T (p.Pro1431Leu) c.4253C>T (p.Pro1418Leu) c.4202C>T (p.Pro1401Leu) c.1334C>T (p.Pro445Leu) | |
| 18 | g.33744219A>C | CA503770102 | ASXL3 | c.4374A>C (p.Pro1458=) c.4371A>C (p.Pro1457=) c.4251A>C (p.Pro1417=) c.4347A>C (p.Pro1449=) c.4293A>C (p.Pro1431=) c.4254A>C (p.Pro1418=) c.4203A>C (p.Pro1401=) c.1335A>C (p.Pro445=) | |
| 18 | g.33744219A>G | CA503770103 | ASXL3 | c.4374A>G (p.Pro1458=) c.4371A>G (p.Pro1457=) c.4251A>G (p.Pro1417=) c.4347A>G (p.Pro1449=) c.4293A>G (p.Pro1431=) c.4254A>G (p.Pro1418=) c.4203A>G (p.Pro1401=) c.1335A>G (p.Pro445=) | |
| 18 | g.33744219A>T | CA503770104 | ASXL3 | c.4374A>T (p.Pro1458=) c.4371A>T (p.Pro1457=) c.4251A>T (p.Pro1417=) c.4347A>T (p.Pro1449=) c.4293A>T (p.Pro1431=) c.4254A>T (p.Pro1418=) c.4203A>T (p.Pro1401=) c.1335A>T (p.Pro445=) | |
| 18 | g.33744219_33744220delinsAG | CA2294858047 | ASXL3 | c.4374_4375delinsAG (p.Pro1458=) c.4371_4372delinsAG (p.Pro1457=) c.4251_4252delinsAG (p.Pro1417=) c.4347_4348delinsAG (p.Pro1449=) c.4293_4294delinsAG (p.Pro1431=) c.4254_4255delinsAG (p.Pro1418=) c.4203_4204delinsAG (p.Pro1401=) c.1335_1336delinsAG (p.Pro445=) | |
| 18 | g.33744220G>A | CA402190772 | ASXL3 | c.4375G>A (p.Gly1459Arg) c.4372G>A (p.Gly1458Arg) c.4252G>A (p.Gly1418Arg) c.4348G>A (p.Gly1450Arg) c.4294G>A (p.Gly1432Arg) c.4255G>A (p.Gly1419Arg) c.4204G>A (p.Gly1402Arg) c.1336G>A (p.Gly446Arg) | COSMIC |
| 18 | g.33744220G>C | CA402190773 | ASXL3 | c.4375G>C (p.Gly1459Arg) c.4372G>C (p.Gly1458Arg) c.4252G>C (p.Gly1418Arg) c.4348G>C (p.Gly1450Arg) c.4294G>C (p.Gly1432Arg) c.4255G>C (p.Gly1419Arg) c.4204G>C (p.Gly1402Arg) c.1336G>C (p.Gly446Arg) | |
| 18 | g.33744220G>T | CA402190774 | ASXL3 | c.4375G>T (p.Gly1459Trp) c.4372G>T (p.Gly1458Trp) c.4252G>T (p.Gly1418Trp) c.4348G>T (p.Gly1450Trp) c.4294G>T (p.Gly1432Trp) c.4255G>T (p.Gly1419Trp) c.4204G>T (p.Gly1402Trp) c.1336G>T (p.Gly446Trp) | |
| 18 | g.33744224del | CA915952508 | ASXL3 | c.4379del (p.Gly1460AlafsTer7) c.4376del (p.Gly1459AlafsTer7) c.4256del (p.Gly1419AlafsTer7) c.4352del (p.Gly1451AlafsTer7) c.4298del (p.Gly1433AlafsTer7) c.4259del (p.Gly1420AlafsTer7) c.4208del (p.Gly1403AlafsTer7) c.1340del (p.Gly447AlafsTer7) | ClinVar dbSNP |
| 18 | g.33744221G>A | CA402190775 | ASXL3 | c.4376G>A (p.Gly1459Glu) c.4373G>A (p.Gly1458Glu) c.4253G>A (p.Gly1418Glu) c.4349G>A (p.Gly1450Glu) c.4295G>A (p.Gly1432Glu) c.4256G>A (p.Gly1419Glu) c.4205G>A (p.Gly1402Glu) c.1337G>A (p.Gly446Glu) | |
| 18 | g.33744221G>C | CA402190776 | ASXL3 | c.4376G>C (p.Gly1459Ala) c.4373G>C (p.Gly1458Ala) c.4253G>C (p.Gly1418Ala) c.4349G>C (p.Gly1450Ala) c.4295G>C (p.Gly1432Ala) c.4256G>C (p.Gly1419Ala) c.4205G>C (p.Gly1402Ala) c.1337G>C (p.Gly446Ala) | |
| 18 | g.33744221G>T | CA402190777 | ASXL3 | c.4376G>T (p.Gly1459Val) c.4373G>T (p.Gly1458Val) c.4253G>T (p.Gly1418Val) c.4349G>T (p.Gly1450Val) c.4295G>T (p.Gly1432Val) c.4256G>T (p.Gly1419Val) c.4205G>T (p.Gly1402Val) c.1337G>T (p.Gly446Val) | |
| 18 | g.33744222G>A | CA503770115 | ASXL3 | c.4377G>A (p.Gly1459=) c.4374G>A (p.Gly1458=) c.4254G>A (p.Gly1418=) c.4350G>A (p.Gly1450=) c.4296G>A (p.Gly1432=) c.4257G>A (p.Gly1419=) c.4206G>A (p.Gly1402=) c.1338G>A (p.Gly446=) | dbSNP gnomAD v4 |