Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.33744208C>ACA402190746ASXL3c.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)
18g.33744208C=CA2294858043ASXL3c.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=)
18g.33744208C>GCA402190747ASXL3c.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)
18g.33744208C>TCA16620687ASXL3c.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
18g.33744209A>CCA402190749ASXL3c.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)
18g.33744209A>GCA402190750ASXL3c.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)
18g.33744209A>TCA402190748ASXL3c.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)
18g.33744210G>ACA503770630ASXL3c.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
18g.33744210G>CCA402190751ASXL3c.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)
18g.33744210G>TCA402190752ASXL3c.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)
18g.33744211C>ACA402190753ASXL3c.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)
18g.33744211C>GCA402190754ASXL3c.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)
18g.33744211C>TCA402190755ASXL3c.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)
18g.33744212A>CCA402190758ASXL3c.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)
18g.33744212A>GCA402190756ASXL3c.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)
18g.33744212A>TCA402190757ASXL3c.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)
18g.33744213A>CCA402190759ASXL3c.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)
18g.33744213A>GCA503770639ASXL3c.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=)
18g.33744213A>TCA402190760ASXL3c.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)
18g.33744214C>ACA402190761ASXL3c.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)
18g.33744214C=CA2294858044ASXL3c.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=)
18g.33744214C>GCA8934246ASXL3c.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
18g.33744214C>TCA402190762ASXL3c.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)
18g.33744214_33744229delinsCCACCAGGGGGCTTTGCA2294858045ASXL3c.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=)
18g.33744215C>ACA402190763ASXL3c.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)
18g.33744215C>GCA402190764ASXL3c.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)
18g.33744215C>TCA402190765ASXL3c.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
18g.33744221_33744235delCA8934247ASXL3c.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
18g.33744216A>CCA503770068ASXL3c.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=)
18g.33744216A>GCA503770097ASXL3c.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=)
18g.33744216A>TCA503770064ASXL3c.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=)
18g.33744217C>ACA402190768ASXL3c.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)
18g.33744217C>GCA402190766ASXL3c.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
18g.33744217C>TCA402190767ASXL3c.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)
18g.33744218C>ACA402190769ASXL3c.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)
18g.33744218C=CA2294858046ASXL3c.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=)
18g.33744218C>GCA402190770ASXL3c.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
18g.33744218C>TCA402190771ASXL3c.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)
18g.33744219A>CCA503770102ASXL3c.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=)
18g.33744219A>GCA503770103ASXL3c.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=)
18g.33744219A>TCA503770104ASXL3c.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=)
18g.33744219_33744220delinsAGCA2294858047ASXL3c.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=)
18g.33744220G>ACA402190772ASXL3c.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
18g.33744220G>CCA402190773ASXL3c.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)
18g.33744220G>TCA402190774ASXL3c.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)
18g.33744224delCA915952508ASXL3c.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
18g.33744221G>ACA402190775ASXL3c.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)
18g.33744221G>CCA402190776ASXL3c.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)
18g.33744221G>TCA402190777ASXL3c.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)
18g.33744222G>ACA503770115ASXL3c.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
18g.33744222G>CCA503770120ASXL3c.4377G>C (p.Gly1459=)
c.4374G>C (p.Gly1458=)
c.4254G>C (p.Gly1418=)
c.4350G>C (p.Gly1450=)
c.4296G>C (p.Gly1432=)
c.4257G>C (p.Gly1419=)
c.4206G>C (p.Gly1402=)
c.1338G>C (p.Gly446=)
18g.33744222G>TCA503770122ASXL3c.4377G>T (p.Gly1459=)
c.4374G>T (p.Gly1458=)
c.4254G>T (p.Gly1418=)
c.4350G>T (p.Gly1450=)
c.4296G>T (p.Gly1432=)
c.4257G>T (p.Gly1419=)
c.4206G>T (p.Gly1402=)
c.1338G>T (p.Gly446=)
18g.33744223G>ACA402190780ASXL3c.4378G>A (p.Gly1460Ser)
c.4375G>A (p.Gly1459Ser)
c.4255G>A (p.Gly1419Ser)
c.4351G>A (p.Gly1451Ser)
c.4297G>A (p.Gly1433Ser)
c.4258G>A (p.Gly1420Ser)
c.4207G>A (p.Gly1403Ser)
c.1339G>A (p.Gly447Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.33744223G>CCA402190779ASXL3c.4378G>C (p.Gly1460Arg)
c.4375G>C (p.Gly1459Arg)
c.4255G>C (p.Gly1419Arg)
c.4351G>C (p.Gly1451Arg)
c.4297G>C (p.Gly1433Arg)
c.4258G>C (p.Gly1420Arg)
c.4207G>C (p.Gly1403Arg)
c.1339G>C (p.Gly447Arg)
 dbSNP gnomAD v2 gnomAD v4
18g.33744223G=CA2294858048ASXL3c.4378G= (p.Gly1460=)
c.4375G= (p.Gly1459=)
c.4255G= (p.Gly1419=)
c.4351G= (p.Gly1451=)
c.4297G= (p.Gly1433=)
c.4258G= (p.Gly1420=)
c.4207G= (p.Gly1403=)
c.1339G= (p.Gly447=)
18g.33744223G>TCA402190778ASXL3c.4378G>T (p.Gly1460Cys)
c.4375G>T (p.Gly1459Cys)
c.4255G>T (p.Gly1419Cys)
c.4351G>T (p.Gly1451Cys)
c.4297G>T (p.Gly1433Cys)
c.4258G>T (p.Gly1420Cys)
c.4207G>T (p.Gly1403Cys)
c.1339G>T (p.Gly447Cys)
 gnomAD v4 COSMIC
18g.33744224G>ACA402190781ASXL3c.4379G>A (p.Gly1460Asp)
c.4376G>A (p.Gly1459Asp)
c.4256G>A (p.Gly1419Asp)
c.4352G>A (p.Gly1451Asp)
c.4298G>A (p.Gly1433Asp)
c.4259G>A (p.Gly1420Asp)
c.4208G>A (p.Gly1403Asp)
c.1340G>A (p.Gly447Asp)
 gnomAD v4
18g.33744224G>CCA8934248ASXL3c.4379G>C (p.Gly1460Ala)
c.4376G>C (p.Gly1459Ala)
c.4256G>C (p.Gly1419Ala)
c.4352G>C (p.Gly1451Ala)
c.4298G>C (p.Gly1433Ala)
c.4259G>C (p.Gly1420Ala)
c.4208G>C (p.Gly1403Ala)
c.1340G>C (p.Gly447Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744224G=CA2294858049ASXL3c.4379G= (p.Gly1460=)
c.4376G= (p.Gly1459=)
c.4256G= (p.Gly1419=)
c.4352G= (p.Gly1451=)
c.4298G= (p.Gly1433=)
c.4259G= (p.Gly1420=)
c.4208G= (p.Gly1403=)
c.1340G= (p.Gly447=)
18g.33744224G>TCA402190782ASXL3c.4379G>T (p.Gly1460Val)
c.4376G>T (p.Gly1459Val)
c.4256G>T (p.Gly1419Val)
c.4352G>T (p.Gly1451Val)
c.4298G>T (p.Gly1433Val)
c.4259G>T (p.Gly1420Val)
c.4208G>T (p.Gly1403Val)
c.1340G>T (p.Gly447Val)
 dbSNP gnomAD v4
18g.33744225delCA2695227405ASXL3c.4380del (p.Phe1461LeufsTer6)
c.4377del (p.Phe1460LeufsTer6)
c.4257del (p.Phe1420LeufsTer6)
c.4353del (p.Phe1452LeufsTer6)
c.4299del (p.Phe1434LeufsTer6)
c.4260del (p.Phe1421LeufsTer6)
c.4209del (p.Phe1404LeufsTer6)
c.1341del (p.Phe448LeufsTer6)
18g.33744225C>ACA503770128ASXL3c.4380C>A (p.Gly1460=)
c.4377C>A (p.Gly1459=)
c.4257C>A (p.Gly1419=)
c.4353C>A (p.Gly1451=)
c.4299C>A (p.Gly1433=)
c.4260C>A (p.Gly1420=)
c.4209C>A (p.Gly1403=)
c.1341C>A (p.Gly447=)
18g.33744225C=CA2294858050ASXL3c.4380C= (p.Gly1460=)
c.4377C= (p.Gly1459=)
c.4257C= (p.Gly1419=)
c.4353C= (p.Gly1451=)
c.4299C= (p.Gly1433=)
c.4260C= (p.Gly1420=)
c.4209C= (p.Gly1403=)
c.1341C= (p.Gly447=)
18g.33744225C>GCA503770131ASXL3c.4380C>G (p.Gly1460=)
c.4377C>G (p.Gly1459=)
c.4257C>G (p.Gly1419=)
c.4353C>G (p.Gly1451=)
c.4299C>G (p.Gly1433=)
c.4260C>G (p.Gly1420=)
c.4209C>G (p.Gly1403=)
c.1341C>G (p.Gly447=)
18g.33744225C>TCA8934249ASXL3c.4380C>T (p.Gly1460=)
c.4377C>T (p.Gly1459=)
c.4257C>T (p.Gly1419=)
c.4353C>T (p.Gly1451=)
c.4299C>T (p.Gly1433=)
c.4260C>T (p.Gly1420=)
c.4209C>T (p.Gly1403=)
c.1341C>T (p.Gly447=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744226T>ACA402190783ASXL3c.4381T>A (p.Phe1461Ile)
c.4378T>A (p.Phe1460Ile)
c.4258T>A (p.Phe1420Ile)
c.4354T>A (p.Phe1452Ile)
c.4300T>A (p.Phe1434Ile)
c.4261T>A (p.Phe1421Ile)
c.4210T>A (p.Phe1404Ile)
c.1342T>A (p.Phe448Ile)
18g.33744226T>CCA402190784ASXL3c.4381T>C (p.Phe1461Leu)
c.4378T>C (p.Phe1460Leu)
c.4258T>C (p.Phe1420Leu)
c.4354T>C (p.Phe1452Leu)
c.4300T>C (p.Phe1434Leu)
c.4261T>C (p.Phe1421Leu)
c.4210T>C (p.Phe1404Leu)
c.1342T>C (p.Phe448Leu)
18g.33744226T>GCA402190785ASXL3c.4381T>G (p.Phe1461Val)
c.4378T>G (p.Phe1460Val)
c.4258T>G (p.Phe1420Val)
c.4354T>G (p.Phe1452Val)
c.4300T>G (p.Phe1434Val)
c.4261T>G (p.Phe1421Val)
c.4210T>G (p.Phe1404Val)
c.1342T>G (p.Phe448Val)
18g.33744227T>ACA402190786ASXL3c.4382T>A (p.Phe1461Tyr)
c.4379T>A (p.Phe1460Tyr)
c.4259T>A (p.Phe1420Tyr)
c.4355T>A (p.Phe1452Tyr)
c.4301T>A (p.Phe1434Tyr)
c.4262T>A (p.Phe1421Tyr)
c.4211T>A (p.Phe1404Tyr)
c.1343T>A (p.Phe448Tyr)
18g.33744227T>CCA402190787ASXL3c.4382T>C (p.Phe1461Ser)
c.4379T>C (p.Phe1460Ser)
c.4259T>C (p.Phe1420Ser)
c.4355T>C (p.Phe1452Ser)
c.4301T>C (p.Phe1434Ser)
c.4262T>C (p.Phe1421Ser)
c.4211T>C (p.Phe1404Ser)
c.1343T>C (p.Phe448Ser)
18g.33744227T>GCA402190788ASXL3c.4382T>G (p.Phe1461Cys)
c.4379T>G (p.Phe1460Cys)
c.4259T>G (p.Phe1420Cys)
c.4355T>G (p.Phe1452Cys)
c.4301T>G (p.Phe1434Cys)
c.4262T>G (p.Phe1421Cys)
c.4211T>G (p.Phe1404Cys)
c.1343T>G (p.Phe448Cys)
18g.33744228T>ACA402190789ASXL3c.4383T>A (p.Phe1461Leu)
c.4380T>A (p.Phe1460Leu)
c.4260T>A (p.Phe1420Leu)
c.4356T>A (p.Phe1452Leu)
c.4302T>A (p.Phe1434Leu)
c.4263T>A (p.Phe1421Leu)
c.4212T>A (p.Phe1404Leu)
c.1344T>A (p.Phe448Leu)
18g.33744228T>CCA503770149ASXL3c.4383T>C (p.Phe1461=)
c.4380T>C (p.Phe1460=)
c.4260T>C (p.Phe1420=)
c.4356T>C (p.Phe1452=)
c.4302T>C (p.Phe1434=)
c.4263T>C (p.Phe1421=)
c.4212T>C (p.Phe1404=)
c.1344T>C (p.Phe448=)
18g.33744228T>GCA402190790ASXL3c.4383T>G (p.Phe1461Leu)
c.4380T>G (p.Phe1460Leu)
c.4260T>G (p.Phe1420Leu)
c.4356T>G (p.Phe1452Leu)
c.4302T>G (p.Phe1434Leu)
c.4263T>G (p.Phe1421Leu)
c.4212T>G (p.Phe1404Leu)
c.1344T>G (p.Phe448Leu)
18g.33744229G>ACA402190792ASXL3c.4384G>A (p.Ala1462Thr)
c.4381G>A (p.Ala1461Thr)
c.4261G>A (p.Ala1421Thr)
c.4357G>A (p.Ala1453Thr)
c.4303G>A (p.Ala1435Thr)
c.4264G>A (p.Ala1422Thr)
c.4213G>A (p.Ala1405Thr)
c.1345G>A (p.Ala449Thr)
18g.33744229G>CCA402190793ASXL3c.4384G>C (p.Ala1462Pro)
c.4381G>C (p.Ala1461Pro)
c.4261G>C (p.Ala1421Pro)
c.4357G>C (p.Ala1453Pro)
c.4303G>C (p.Ala1435Pro)
c.4264G>C (p.Ala1422Pro)
c.4213G>C (p.Ala1405Pro)
c.1345G>C (p.Ala449Pro)
18g.33744229G>TCA402190791ASXL3c.4384G>T (p.Ala1462Ser)
c.4381G>T (p.Ala1461Ser)
c.4261G>T (p.Ala1421Ser)
c.4357G>T (p.Ala1453Ser)
c.4303G>T (p.Ala1435Ser)
c.4264G>T (p.Ala1422Ser)
c.4213G>T (p.Ala1405Ser)
c.1345G>T (p.Ala449Ser)
18g.33744230delCA2695227406ASXL3c.4385del (p.Ala1462AspfsTer5)
c.4382del (p.Ala1461AspfsTer5)
c.4262del (p.Ala1421AspfsTer5)
c.4358del (p.Ala1453AspfsTer5)
c.4304del (p.Ala1435AspfsTer5)
c.4265del (p.Ala1422AspfsTer5)
c.4214del (p.Ala1405AspfsTer5)
c.1346del (p.Ala449AspfsTer5)
18g.33744230C>ACA402190794ASXL3c.4385C>A (p.Ala1462Glu)
c.4382C>A (p.Ala1461Glu)
c.4262C>A (p.Ala1421Glu)
c.4358C>A (p.Ala1453Glu)
c.4304C>A (p.Ala1435Glu)
c.4265C>A (p.Ala1422Glu)
c.4214C>A (p.Ala1405Glu)
c.1346C>A (p.Ala449Glu)
 dbSNP gnomAD v2
18g.33744230C=CA2294858051ASXL3c.4385C= (p.Ala1462=)
c.4382C= (p.Ala1461=)
c.4262C= (p.Ala1421=)
c.4358C= (p.Ala1453=)
c.4304C= (p.Ala1435=)
c.4265C= (p.Ala1422=)
c.4214C= (p.Ala1405=)
c.1346C= (p.Ala449=)
18g.33744230C>GCA402190795ASXL3c.4385C>G (p.Ala1462Gly)
c.4382C>G (p.Ala1461Gly)
c.4262C>G (p.Ala1421Gly)
c.4358C>G (p.Ala1453Gly)
c.4304C>G (p.Ala1435Gly)
c.4265C>G (p.Ala1422Gly)
c.4214C>G (p.Ala1405Gly)
c.1346C>G (p.Ala449Gly)
18g.33744230C>TCA8934250ASXL3c.4385C>T (p.Ala1462Val)
c.4382C>T (p.Ala1461Val)
c.4262C>T (p.Ala1421Val)
c.4358C>T (p.Ala1453Val)
c.4304C>T (p.Ala1435Val)
c.4265C>T (p.Ala1422Val)
c.4214C>T (p.Ala1405Val)
c.1346C>T (p.Ala449Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744231A=CA2294858052ASXL3c.4386A= (p.Ala1462=)
c.4383A= (p.Ala1461=)
c.4263A= (p.Ala1421=)
c.4359A= (p.Ala1453=)
c.4305A= (p.Ala1435=)
c.4266A= (p.Ala1422=)
c.4215A= (p.Ala1405=)
c.1347A= (p.Ala449=)
18g.33744231A>CCA8934251ASXL3c.4386A>C (p.Ala1462=)
c.4383A>C (p.Ala1461=)
c.4263A>C (p.Ala1421=)
c.4359A>C (p.Ala1453=)
c.4305A>C (p.Ala1435=)
c.4266A>C (p.Ala1422=)
c.4215A>C (p.Ala1405=)
c.1347A>C (p.Ala449=)
 dbSNP ExAC gnomAD v4
18g.33744231A>GCA503770165ASXL3c.4386A>G (p.Ala1462=)
c.4383A>G (p.Ala1461=)
c.4263A>G (p.Ala1421=)
c.4359A>G (p.Ala1453=)
c.4305A>G (p.Ala1435=)
c.4266A>G (p.Ala1422=)
c.4215A>G (p.Ala1405=)
c.1347A>G (p.Ala449=)
 dbSNP gnomAD v3 gnomAD v4
18g.33744231A>TCA503770163ASXL3c.4386A>T (p.Ala1462=)
c.4383A>T (p.Ala1461=)
c.4263A>T (p.Ala1421=)
c.4359A>T (p.Ala1453=)
c.4305A>T (p.Ala1435=)
c.4266A>T (p.Ala1422=)
c.4215A>T (p.Ala1405=)
c.1347A>T (p.Ala449=)
18g.33744232C>ACA402190796ASXL3c.4387C>A (p.Pro1463Thr)
c.4384C>A (p.Pro1462Thr)
c.4264C>A (p.Pro1422Thr)
c.4360C>A (p.Pro1454Thr)
c.4306C>A (p.Pro1436Thr)
c.4267C>A (p.Pro1423Thr)
c.4216C>A (p.Pro1406Thr)
c.1348C>A (p.Pro450Thr)
 gnomAD v4
18g.33744232C=CA2294858053ASXL3c.4387C= (p.Pro1463=)
c.4384C= (p.Pro1462=)
c.4264C= (p.Pro1422=)
c.4360C= (p.Pro1454=)
c.4306C= (p.Pro1436=)
c.4267C= (p.Pro1423=)
c.4216C= (p.Pro1406=)
c.1348C= (p.Pro450=)
18g.33744232C>GCA8934253ASXL3c.4387C>G (p.Pro1463Ala)
c.4384C>G (p.Pro1462Ala)
c.4264C>G (p.Pro1422Ala)
c.4360C>G (p.Pro1454Ala)
c.4306C>G (p.Pro1436Ala)
c.4267C>G (p.Pro1423Ala)
c.4216C>G (p.Pro1406Ala)
c.1348C>G (p.Pro450Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744232C>TCA8934252ASXL3c.4387C>T (p.Pro1463Ser)
c.4384C>T (p.Pro1462Ser)
c.4264C>T (p.Pro1422Ser)
c.4360C>T (p.Pro1454Ser)
c.4306C>T (p.Pro1436Ser)
c.4267C>T (p.Pro1423Ser)
c.4216C>T (p.Pro1406Ser)
c.1348C>T (p.Pro450Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744233C>ACA8934254ASXL3c.4388C>A (p.Pro1463Gln)
c.4385C>A (p.Pro1462Gln)
c.4265C>A (p.Pro1422Gln)
c.4361C>A (p.Pro1454Gln)
c.4307C>A (p.Pro1436Gln)
c.4268C>A (p.Pro1423Gln)
c.4217C>A (p.Pro1406Gln)
c.1349C>A (p.Pro450Gln)
 dbSNP ExAC gnomAD v2
18g.33744233C=CA2294858054ASXL3c.4388C= (p.Pro1463=)
c.4385C= (p.Pro1462=)
c.4265C= (p.Pro1422=)
c.4361C= (p.Pro1454=)
c.4307C= (p.Pro1436=)
c.4268C= (p.Pro1423=)
c.4217C= (p.Pro1406=)
c.1349C= (p.Pro450=)
18g.33744233C>GCA402190797ASXL3c.4388C>G (p.Pro1463Arg)
c.4385C>G (p.Pro1462Arg)
c.4265C>G (p.Pro1422Arg)
c.4361C>G (p.Pro1454Arg)
c.4307C>G (p.Pro1436Arg)
c.4268C>G (p.Pro1423Arg)
c.4217C>G (p.Pro1406Arg)
c.1349C>G (p.Pro450Arg)
 dbSNP gnomAD v2 gnomAD v4
18g.33744233C>TCA402190798ASXL3c.4388C>T (p.Pro1463Leu)
c.4385C>T (p.Pro1462Leu)
c.4265C>T (p.Pro1422Leu)
c.4361C>T (p.Pro1454Leu)
c.4307C>T (p.Pro1436Leu)
c.4268C>T (p.Pro1423Leu)
c.4217C>T (p.Pro1406Leu)
c.1349C>T (p.Pro450Leu)
 gnomAD v4
18g.33744234A=CA2294858055ASXL3c.4389A= (p.Pro1463=)
c.4386A= (p.Pro1462=)
c.4266A= (p.Pro1422=)
c.4362A= (p.Pro1454=)
c.4308A= (p.Pro1436=)
c.4269A= (p.Pro1423=)
c.4218A= (p.Pro1406=)
c.1350A= (p.Pro450=)
18g.33744234A>CCA503770172ASXL3c.4389A>C (p.Pro1463=)
c.4386A>C (p.Pro1462=)
c.4266A>C (p.Pro1422=)
c.4362A>C (p.Pro1454=)
c.4308A>C (p.Pro1436=)
c.4269A>C (p.Pro1423=)
c.4218A>C (p.Pro1406=)
c.1350A>C (p.Pro450=)
18g.33744234A>GCA503770173ASXL3c.4389A>G (p.Pro1463=)
c.4386A>G (p.Pro1462=)
c.4266A>G (p.Pro1422=)
c.4362A>G (p.Pro1454=)
c.4308A>G (p.Pro1436=)
c.4269A>G (p.Pro1423=)
c.4218A>G (p.Pro1406=)
c.1350A>G (p.Pro450=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744234A>TCA503770174ASXL3c.4389A>T (p.Pro1463=)
c.4386A>T (p.Pro1462=)
c.4266A>T (p.Pro1422=)
c.4362A>T (p.Pro1454=)
c.4308A>T (p.Pro1436=)
c.4269A>T (p.Pro1423=)
c.4218A>T (p.Pro1406=)
c.1350A>T (p.Pro450=)
18g.33744235G>ACA402190799ASXL3c.4390G>A (p.Ala1464Thr)
c.4387G>A (p.Ala1463Thr)
c.4267G>A (p.Ala1423Thr)
c.4363G>A (p.Ala1455Thr)
c.4309G>A (p.Ala1437Thr)
c.4270G>A (p.Ala1424Thr)
c.4219G>A (p.Ala1407Thr)
c.1351G>A (p.Ala451Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.33744235G>CCA8934255ASXL3c.4390G>C (p.Ala1464Pro)
c.4387G>C (p.Ala1463Pro)
c.4267G>C (p.Ala1423Pro)
c.4363G>C (p.Ala1455Pro)
c.4309G>C (p.Ala1437Pro)
c.4270G>C (p.Ala1424Pro)
c.4219G>C (p.Ala1407Pro)
c.1351G>C (p.Ala451Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744235G=CA2294858056ASXL3c.4390G= (p.Ala1464=)
c.4387G= (p.Ala1463=)
c.4267G= (p.Ala1423=)
c.4363G= (p.Ala1455=)
c.4309G= (p.Ala1437=)
c.4270G= (p.Ala1424=)
c.4219G= (p.Ala1407=)
c.1351G= (p.Ala451=)
18g.33744235G>TCA402190800ASXL3c.4390G>T (p.Ala1464Ser)
c.4387G>T (p.Ala1463Ser)
c.4267G>T (p.Ala1423Ser)
c.4363G>T (p.Ala1455Ser)
c.4309G>T (p.Ala1437Ser)
c.4270G>T (p.Ala1424Ser)
c.4219G>T (p.Ala1407Ser)
c.1351G>T (p.Ala451Ser)
18g.33744236C>ACA402190803ASXL3c.4391C>A (p.Ala1464Glu)
c.4388C>A (p.Ala1463Glu)
c.4268C>A (p.Ala1423Glu)
c.4364C>A (p.Ala1455Glu)
c.4310C>A (p.Ala1437Glu)
c.4271C>A (p.Ala1424Glu)
c.4220C>A (p.Ala1407Glu)
c.1352C>A (p.Ala451Glu)
18g.33744236C>GCA402190802ASXL3c.4391C>G (p.Ala1464Gly)
c.4388C>G (p.Ala1463Gly)
c.4268C>G (p.Ala1423Gly)
c.4364C>G (p.Ala1455Gly)
c.4310C>G (p.Ala1437Gly)
c.4271C>G (p.Ala1424Gly)
c.4220C>G (p.Ala1407Gly)
c.1352C>G (p.Ala451Gly)
18g.33744236C>TCA402190801ASXL3c.4391C>T (p.Ala1464Val)
c.4388C>T (p.Ala1463Val)
c.4268C>T (p.Ala1423Val)
c.4364C>T (p.Ala1455Val)
c.4310C>T (p.Ala1437Val)
c.4271C>T (p.Ala1424Val)
c.4220C>T (p.Ala1407Val)
c.1352C>T (p.Ala451Val)
18g.33744237A>CCA503770182ASXL3c.4392A>C (p.Ala1464=)
c.4389A>C (p.Ala1463=)
c.4269A>C (p.Ala1423=)
c.4365A>C (p.Ala1455=)
c.4311A>C (p.Ala1437=)
c.4272A>C (p.Ala1424=)
c.4221A>C (p.Ala1407=)
c.1353A>C (p.Ala451=)
18g.33744237A>GCA503770184ASXL3c.4392A>G (p.Ala1464=)
c.4389A>G (p.Ala1463=)
c.4269A>G (p.Ala1423=)
c.4365A>G (p.Ala1455=)
c.4311A>G (p.Ala1437=)
c.4272A>G (p.Ala1424=)
c.4221A>G (p.Ala1407=)
c.1353A>G (p.Ala451=)
18g.33744237A>TCA503770187ASXL3c.4392A>T (p.Ala1464=)
c.4389A>T (p.Ala1463=)
c.4269A>T (p.Ala1423=)
c.4365A>T (p.Ala1455=)
c.4311A>T (p.Ala1437=)
c.4272A>T (p.Ala1424=)
c.4221A>T (p.Ala1407=)
c.1353A>T (p.Ala451=)
18g.33744238G>ACA402190804ASXL3c.4393G>A (p.Ala1465Thr)
c.4390G>A (p.Ala1464Thr)
c.4270G>A (p.Ala1424Thr)
c.4366G>A (p.Ala1456Thr)
c.4312G>A (p.Ala1438Thr)
c.4273G>A (p.Ala1425Thr)
c.4222G>A (p.Ala1408Thr)
c.1354G>A (p.Ala452Thr)
18g.33744238G>CCA402190805ASXL3c.4393G>C (p.Ala1465Pro)
c.4390G>C (p.Ala1464Pro)
c.4270G>C (p.Ala1424Pro)
c.4366G>C (p.Ala1456Pro)
c.4312G>C (p.Ala1438Pro)
c.4273G>C (p.Ala1425Pro)
c.4222G>C (p.Ala1408Pro)
c.1354G>C (p.Ala452Pro)
18g.33744238G>TCA402190806ASXL3c.4393G>T (p.Ala1465Ser)
c.4390G>T (p.Ala1464Ser)
c.4270G>T (p.Ala1424Ser)
c.4366G>T (p.Ala1456Ser)
c.4312G>T (p.Ala1438Ser)
c.4273G>T (p.Ala1425Ser)
c.4222G>T (p.Ala1408Ser)
c.1354G>T (p.Ala452Ser)
18g.33744239C>ACA402190807ASXL3c.4394C>A (p.Ala1465Asp)
c.4391C>A (p.Ala1464Asp)
c.4271C>A (p.Ala1424Asp)
c.4367C>A (p.Ala1456Asp)
c.4313C>A (p.Ala1438Asp)
c.4274C>A (p.Ala1425Asp)
c.4223C>A (p.Ala1408Asp)
c.1355C>A (p.Ala452Asp)
18g.33744239C>GCA402190808ASXL3c.4394C>G (p.Ala1465Gly)
c.4391C>G (p.Ala1464Gly)
c.4271C>G (p.Ala1424Gly)
c.4367C>G (p.Ala1456Gly)
c.4313C>G (p.Ala1438Gly)
c.4274C>G (p.Ala1425Gly)
c.4223C>G (p.Ala1408Gly)
c.1355C>G (p.Ala452Gly)
18g.33744239C>TCA402190809ASXL3c.4394C>T (p.Ala1465Val)
c.4391C>T (p.Ala1464Val)
c.4271C>T (p.Ala1424Val)
c.4367C>T (p.Ala1456Val)
c.4313C>T (p.Ala1438Val)
c.4274C>T (p.Ala1425Val)
c.4223C>T (p.Ala1408Val)
c.1355C>T (p.Ala452Val)
 gnomAD v4
18g.33744240C>ACA503770201ASXL3c.4395C>A (p.Ala1465=)
c.4392C>A (p.Ala1464=)
c.4272C>A (p.Ala1424=)
c.4368C>A (p.Ala1456=)
c.4314C>A (p.Ala1438=)
c.4275C>A (p.Ala1425=)
c.4224C>A (p.Ala1408=)
c.1356C>A (p.Ala452=)
18g.33744240C>GCA503770202ASXL3c.4395C>G (p.Ala1465=)
c.4392C>G (p.Ala1464=)
c.4272C>G (p.Ala1424=)
c.4368C>G (p.Ala1456=)
c.4314C>G (p.Ala1438=)
c.4275C>G (p.Ala1425=)
c.4224C>G (p.Ala1408=)
c.1356C>G (p.Ala452=)
18g.33744240C>TCA503770204ASXL3c.4395C>T (p.Ala1465=)
c.4392C>T (p.Ala1464=)
c.4272C>T (p.Ala1424=)
c.4368C>T (p.Ala1456=)
c.4314C>T (p.Ala1438=)
c.4275C>T (p.Ala1425=)
c.4224C>T (p.Ala1408=)
c.1356C>T (p.Ala452=)
18g.33744241A=CA2294858057ASXL3c.4396A= (p.Ile1466=)
c.4393A= (p.Ile1465=)
c.4273A= (p.Ile1425=)
c.4369A= (p.Ile1457=)
c.4315A= (p.Ile1439=)
c.4276A= (p.Ile1426=)
c.4225A= (p.Ile1409=)
c.1357A= (p.Ile453=)
18g.33744241A>CCA402190810ASXL3c.4396A>C (p.Ile1466Leu)
c.4393A>C (p.Ile1465Leu)
c.4273A>C (p.Ile1425Leu)
c.4369A>C (p.Ile1457Leu)
c.4315A>C (p.Ile1439Leu)
c.4276A>C (p.Ile1426Leu)
c.4225A>C (p.Ile1409Leu)
c.1357A>C (p.Ile453Leu)
18g.33744241A>GCA402190811ASXL3c.4396A>G (p.Ile1466Val)
c.4393A>G (p.Ile1465Val)
c.4273A>G (p.Ile1425Val)
c.4369A>G (p.Ile1457Val)
c.4315A>G (p.Ile1439Val)
c.4276A>G (p.Ile1426Val)
c.4225A>G (p.Ile1409Val)
c.1357A>G (p.Ile453Val)
 dbSNP gnomAD v3 gnomAD v4
18g.33744241A>TCA402190812ASXL3c.4396A>T (p.Ile1466Leu)
c.4393A>T (p.Ile1465Leu)
c.4273A>T (p.Ile1425Leu)
c.4369A>T (p.Ile1457Leu)
c.4315A>T (p.Ile1439Leu)
c.4276A>T (p.Ile1426Leu)
c.4225A>T (p.Ile1409Leu)
c.1357A>T (p.Ile453Leu)
18g.33744242T>ACA402190813ASXL3c.4397T>A (p.Ile1466Lys)
c.4394T>A (p.Ile1465Lys)
c.4274T>A (p.Ile1425Lys)
c.4370T>A (p.Ile1457Lys)
c.4316T>A (p.Ile1439Lys)
c.4277T>A (p.Ile1426Lys)
c.4226T>A (p.Ile1409Lys)
c.1358T>A (p.Ile453Lys)
18g.33744242T>CCA402190814ASXL3c.4397T>C (p.Ile1466Thr)
c.4394T>C (p.Ile1465Thr)
c.4274T>C (p.Ile1425Thr)
c.4370T>C (p.Ile1457Thr)
c.4316T>C (p.Ile1439Thr)
c.4277T>C (p.Ile1426Thr)
c.4226T>C (p.Ile1409Thr)
c.1358T>C (p.Ile453Thr)
18g.33744242T>GCA402190815ASXL3c.4397T>G (p.Ile1466Arg)
c.4394T>G (p.Ile1465Arg)
c.4274T>G (p.Ile1425Arg)
c.4370T>G (p.Ile1457Arg)
c.4316T>G (p.Ile1439Arg)
c.4277T>G (p.Ile1426Arg)
c.4226T>G (p.Ile1409Arg)
c.1358T>G (p.Ile453Arg)
18g.33744243A=CA2294858058ASXL3c.4398A= (p.Ile1466=)
c.4395A= (p.Ile1465=)
c.4275A= (p.Ile1425=)
c.4371A= (p.Ile1457=)
c.4317A= (p.Ile1439=)
c.4278A= (p.Ile1426=)
c.4227A= (p.Ile1409=)
c.1359A= (p.Ile453=)
18g.33744243A>CCA503770212ASXL3c.4398A>C (p.Ile1466=)
c.4395A>C (p.Ile1465=)
c.4275A>C (p.Ile1425=)
c.4371A>C (p.Ile1457=)
c.4317A>C (p.Ile1439=)
c.4278A>C (p.Ile1426=)
c.4227A>C (p.Ile1409=)
c.1359A>C (p.Ile453=)
18g.33744243A>GCA402190816ASXL3c.4398A>G (p.Ile1466Met)
c.4395A>G (p.Ile1465Met)
c.4275A>G (p.Ile1425Met)
c.4371A>G (p.Ile1457Met)
c.4317A>G (p.Ile1439Met)
c.4278A>G (p.Ile1426Met)
c.4227A>G (p.Ile1409Met)
c.1359A>G (p.Ile453Met)
 dbSNP gnomAD v4
18g.33744243A>TCA503770213ASXL3c.4398A>T (p.Ile1466=)
c.4395A>T (p.Ile1465=)
c.4275A>T (p.Ile1425=)
c.4371A>T (p.Ile1457=)
c.4317A>T (p.Ile1439=)
c.4278A>T (p.Ile1426=)
c.4227A>T (p.Ile1409=)
c.1359A>T (p.Ile453=)
18g.33744244A>CCA402190819ASXL3c.4399A>C (p.Asn1467His)
c.4396A>C (p.Asn1466His)
c.4276A>C (p.Asn1426His)
c.4372A>C (p.Asn1458His)
c.4318A>C (p.Asn1440His)
c.4279A>C (p.Asn1427His)
c.4228A>C (p.Asn1410His)
c.1360A>C (p.Asn454His)
18g.33744244A>GCA402190818ASXL3c.4399A>G (p.Asn1467Asp)
c.4396A>G (p.Asn1466Asp)
c.4276A>G (p.Asn1426Asp)
c.4372A>G (p.Asn1458Asp)
c.4318A>G (p.Asn1440Asp)
c.4279A>G (p.Asn1427Asp)
c.4228A>G (p.Asn1410Asp)
c.1360A>G (p.Asn454Asp)
18g.33744244A>TCA402190817ASXL3c.4399A>T (p.Asn1467Tyr)
c.4396A>T (p.Asn1466Tyr)
c.4276A>T (p.Asn1426Tyr)
c.4372A>T (p.Asn1458Tyr)
c.4318A>T (p.Asn1440Tyr)
c.4279A>T (p.Asn1427Tyr)
c.4228A>T (p.Asn1410Tyr)
c.1360A>T (p.Asn454Tyr)
18g.33744245A>CCA402190820ASXL3c.4400A>C (p.Asn1467Thr)
c.4397A>C (p.Asn1466Thr)
c.4277A>C (p.Asn1426Thr)
c.4373A>C (p.Asn1458Thr)
c.4319A>C (p.Asn1440Thr)
c.4280A>C (p.Asn1427Thr)
c.4229A>C (p.Asn1410Thr)
c.1361A>C (p.Asn454Thr)
18g.33744245A>GCA402190822ASXL3c.4400A>G (p.Asn1467Ser)
c.4397A>G (p.Asn1466Ser)
c.4277A>G (p.Asn1426Ser)
c.4373A>G (p.Asn1458Ser)
c.4319A>G (p.Asn1440Ser)
c.4280A>G (p.Asn1427Ser)
c.4229A>G (p.Asn1410Ser)
c.1361A>G (p.Asn454Ser)
18g.33744245A>TCA402190821ASXL3c.4400A>T (p.Asn1467Ile)
c.4397A>T (p.Asn1466Ile)
c.4277A>T (p.Asn1426Ile)
c.4373A>T (p.Asn1458Ile)
c.4319A>T (p.Asn1440Ile)
c.4280A>T (p.Asn1427Ile)
c.4229A>T (p.Asn1410Ile)
c.1361A>T (p.Asn454Ile)
18g.33744246C>ACA402190823ASXL3c.4401C>A (p.Asn1467Lys)
c.4398C>A (p.Asn1466Lys)
c.4278C>A (p.Asn1426Lys)
c.4374C>A (p.Asn1458Lys)
c.4320C>A (p.Asn1440Lys)
c.4281C>A (p.Asn1427Lys)
c.4230C>A (p.Asn1410Lys)
c.1362C>A (p.Asn454Lys)
18g.33744246C>GCA402190824ASXL3c.4401C>G (p.Asn1467Lys)
c.4398C>G (p.Asn1466Lys)
c.4278C>G (p.Asn1426Lys)
c.4374C>G (p.Asn1458Lys)
c.4320C>G (p.Asn1440Lys)
c.4281C>G (p.Asn1427Lys)
c.4230C>G (p.Asn1410Lys)
c.1362C>G (p.Asn454Lys)
18g.33744246C>TCA503770231ASXL3c.4401C>T (p.Asn1467=)
c.4398C>T (p.Asn1466=)
c.4278C>T (p.Asn1426=)
c.4374C>T (p.Asn1458=)
c.4320C>T (p.Asn1440=)
c.4281C>T (p.Asn1427=)
c.4230C>T (p.Asn1410=)
c.1362C>T (p.Asn454=)
18g.33744247C>ACA503770234ASXL3c.4402C>A (p.Arg1468=)
c.4399C>A (p.Arg1467=)
c.4279C>A (p.Arg1427=)
c.4375C>A (p.Arg1459=)
c.4321C>A (p.Arg1441=)
c.4282C>A (p.Arg1428=)
c.4231C>A (p.Arg1411=)
c.1363C>A (p.Arg455=)
 dbSNP
18g.33744247C=CA2294858059ASXL3c.4402C= (p.Arg1468=)
c.4399C= (p.Arg1467=)
c.4279C= (p.Arg1427=)
c.4375C= (p.Arg1459=)
c.4321C= (p.Arg1441=)
c.4282C= (p.Arg1428=)
c.4231C= (p.Arg1411=)
c.1363C= (p.Arg455=)
18g.33744247C>GCA402190825ASXL3c.4402C>G (p.Arg1468Gly)
c.4399C>G (p.Arg1467Gly)
c.4279C>G (p.Arg1427Gly)
c.4375C>G (p.Arg1459Gly)
c.4321C>G (p.Arg1441Gly)
c.4282C>G (p.Arg1428Gly)
c.4231C>G (p.Arg1411Gly)
c.1363C>G (p.Arg455Gly)
 dbSNP
18g.33744247C>TCA402190826ASXL3c.4402C>T (p.Arg1468Ter)
c.4399C>T (p.Arg1467Ter)
c.4279C>T (p.Arg1427Ter)
c.4375C>T (p.Arg1459Ter)
c.4321C>T (p.Arg1441Ter)
c.4282C>T (p.Arg1428Ter)
c.4231C>T (p.Arg1411Ter)
c.1363C>T (p.Arg455Ter)
 ClinVar dbSNP gnomAD v4
18g.33744248_33744251dupCA2695227407ASXL3c.4403_4406dup (p.Pro1471AsnfsTer4)
c.4400_4403dup (p.Pro1470AsnfsTer4)
c.4280_4283dup (p.Pro1430AsnfsTer4)
c.4376_4379dup (p.Pro1462AsnfsTer4)
c.4322_4325dup (p.Pro1444AsnfsTer4)
c.4283_4286dup (p.Pro1431AsnfsTer4)
c.4232_4235dup (p.Pro1414AsnfsTer4)
c.1364_1367dup (p.Pro458AsnfsTer4)
18g.33744248G>ACA8934256ASXL3c.4403G>A (p.Arg1468Gln)
c.4400G>A (p.Arg1467Gln)
c.4280G>A (p.Arg1427Gln)
c.4376G>A (p.Arg1459Gln)
c.4322G>A (p.Arg1441Gln)
c.4283G>A (p.Arg1428Gln)
c.4232G>A (p.Arg1411Gln)
c.1364G>A (p.Arg455Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.33744248G>CCA8934257ASXL3c.4403G>C (p.Arg1468Pro)
c.4400G>C (p.Arg1467Pro)
c.4280G>C (p.Arg1427Pro)
c.4376G>C (p.Arg1459Pro)
c.4322G>C (p.Arg1441Pro)
c.4283G>C (p.Arg1428Pro)
c.4232G>C (p.Arg1411Pro)
c.1364G>C (p.Arg455Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744248G=CA2294858060ASXL3c.4403G= (p.Arg1468=)
c.4400G= (p.Arg1467=)
c.4280G= (p.Arg1427=)
c.4376G= (p.Arg1459=)
c.4322G= (p.Arg1441=)
c.4283G= (p.Arg1428=)
c.4232G= (p.Arg1411=)
c.1364G= (p.Arg455=)
18g.33744248G>TCA402190827ASXL3c.4403G>T (p.Arg1468Leu)
c.4400G>T (p.Arg1467Leu)
c.4280G>T (p.Arg1427Leu)
c.4376G>T (p.Arg1459Leu)
c.4322G>T (p.Arg1441Leu)
c.4283G>T (p.Arg1428Leu)
c.4232G>T (p.Arg1411Leu)
c.1364G>T (p.Arg455Leu)
18g.33744249A>CCA503770237ASXL3c.4404A>C (p.Arg1468=)
c.4401A>C (p.Arg1467=)
c.4281A>C (p.Arg1427=)
c.4377A>C (p.Arg1459=)
c.4323A>C (p.Arg1441=)
c.4284A>C (p.Arg1428=)
c.4233A>C (p.Arg1411=)
c.1365A>C (p.Arg455=)
18g.33744249A>GCA503770239ASXL3c.4404A>G (p.Arg1468=)
c.4401A>G (p.Arg1467=)
c.4281A>G (p.Arg1427=)
c.4377A>G (p.Arg1459=)
c.4323A>G (p.Arg1441=)
c.4284A>G (p.Arg1428=)
c.4233A>G (p.Arg1411=)
c.1365A>G (p.Arg455=)
 gnomAD v4
18g.33744249A>TCA503770240ASXL3c.4404A>T (p.Arg1468=)
c.4401A>T (p.Arg1467=)
c.4281A>T (p.Arg1427=)
c.4377A>T (p.Arg1459=)
c.4323A>T (p.Arg1441=)
c.4284A>T (p.Arg1428=)
c.4233A>T (p.Arg1411=)
c.1365A>T (p.Arg455=)
18g.33744250T>ACA402190828ASXL3c.4405T>A (p.Ser1469Thr)
c.4402T>A (p.Ser1468Thr)
c.4282T>A (p.Ser1428Thr)
c.4378T>A (p.Ser1460Thr)
c.4324T>A (p.Ser1442Thr)
c.4285T>A (p.Ser1429Thr)
c.4234T>A (p.Ser1412Thr)
c.1366T>A (p.Ser456Thr)
18g.33744250T>CCA402190829ASXL3c.4405T>C (p.Ser1469Pro)
c.4402T>C (p.Ser1468Pro)
c.4282T>C (p.Ser1428Pro)
c.4378T>C (p.Ser1460Pro)
c.4324T>C (p.Ser1442Pro)
c.4285T>C (p.Ser1429Pro)
c.4234T>C (p.Ser1412Pro)
c.1366T>C (p.Ser456Pro)
18g.33744250T>GCA402190830ASXL3c.4405T>G (p.Ser1469Ala)
c.4402T>G (p.Ser1468Ala)
c.4282T>G (p.Ser1428Ala)
c.4378T>G (p.Ser1460Ala)
c.4324T>G (p.Ser1442Ala)
c.4285T>G (p.Ser1429Ala)
c.4234T>G (p.Ser1412Ala)
c.1366T>G (p.Ser456Ala)
18g.33744251C>ACA402190831ASXL3c.4406C>A (p.Ser1469Ter)
c.4403C>A (p.Ser1468Ter)
c.4283C>A (p.Ser1428Ter)
c.4379C>A (p.Ser1460Ter)
c.4325C>A (p.Ser1442Ter)
c.4286C>A (p.Ser1429Ter)
c.4235C>A (p.Ser1412Ter)
c.1367C>A (p.Ser456Ter)
18g.33744251C>GCA402190832ASXL3c.4406C>G (p.Ser1469Ter)
c.4403C>G (p.Ser1468Ter)
c.4283C>G (p.Ser1428Ter)
c.4379C>G (p.Ser1460Ter)
c.4325C>G (p.Ser1442Ter)
c.4286C>G (p.Ser1429Ter)
c.4235C>G (p.Ser1412Ter)
c.1367C>G (p.Ser456Ter)
 ClinVar dbSNP
18g.33744251C>TCA402190833ASXL3c.4406C>T (p.Ser1469Leu)
c.4403C>T (p.Ser1468Leu)
c.4283C>T (p.Ser1428Leu)
c.4379C>T (p.Ser1460Leu)
c.4325C>T (p.Ser1442Leu)
c.4286C>T (p.Ser1429Leu)
c.4235C>T (p.Ser1412Leu)
c.1367C>T (p.Ser456Leu)
18g.33744252A>CCA503770241ASXL3c.4407A>C (p.Ser1469=)
c.4404A>C (p.Ser1468=)
c.4284A>C (p.Ser1428=)
c.4380A>C (p.Ser1460=)
c.4326A>C (p.Ser1442=)
c.4287A>C (p.Ser1429=)
c.4236A>C (p.Ser1412=)
c.1368A>C (p.Ser456=)
18g.33744252A>GCA503770244ASXL3c.4407A>G (p.Ser1469=)
c.4404A>G (p.Ser1468=)
c.4284A>G (p.Ser1428=)
c.4380A>G (p.Ser1460=)
c.4326A>G (p.Ser1442=)
c.4287A>G (p.Ser1429=)
c.4236A>G (p.Ser1412=)
c.1368A>G (p.Ser456=)
18g.33744252A>TCA503770250ASXL3c.4407A>T (p.Ser1469=)
c.4404A>T (p.Ser1468=)
c.4284A>T (p.Ser1428=)
c.4380A>T (p.Ser1460=)
c.4326A>T (p.Ser1442=)
c.4287A>T (p.Ser1429=)
c.4236A>T (p.Ser1412=)
c.1368A>T (p.Ser456=)
18g.33744253A=CA2294858061ASXL3c.4408A= (p.Ile1470=)
c.4405A= (p.Ile1469=)
c.4285A= (p.Ile1429=)
c.4381A= (p.Ile1461=)
c.4327A= (p.Ile1443=)
c.4288A= (p.Ile1430=)
c.4237A= (p.Ile1413=)
c.1369A= (p.Ile457=)
18g.33744253A>CCA402190834ASXL3c.4408A>C (p.Ile1470Leu)
c.4405A>C (p.Ile1469Leu)
c.4285A>C (p.Ile1429Leu)
c.4381A>C (p.Ile1461Leu)
c.4327A>C (p.Ile1443Leu)
c.4288A>C (p.Ile1430Leu)
c.4237A>C (p.Ile1413Leu)
c.1369A>C (p.Ile457Leu)
18g.33744253A>GCA402190835ASXL3c.4408A>G (p.Ile1470Val)
c.4405A>G (p.Ile1469Val)
c.4285A>G (p.Ile1429Val)
c.4381A>G (p.Ile1461Val)
c.4327A>G (p.Ile1443Val)
c.4288A>G (p.Ile1430Val)
c.4237A>G (p.Ile1413Val)
c.1369A>G (p.Ile457Val)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
18g.33744253A>TCA402190836ASXL3c.4408A>T (p.Ile1470Phe)
c.4405A>T (p.Ile1469Phe)
c.4285A>T (p.Ile1429Phe)
c.4381A>T (p.Ile1461Phe)
c.4327A>T (p.Ile1443Phe)
c.4288A>T (p.Ile1430Phe)
c.4237A>T (p.Ile1413Phe)
c.1369A>T (p.Ile457Phe)
18g.33744254T>ACA402190837ASXL3c.4409T>A (p.Ile1470Asn)
c.4406T>A (p.Ile1469Asn)
c.4286T>A (p.Ile1429Asn)
c.4382T>A (p.Ile1461Asn)
c.4328T>A (p.Ile1443Asn)
c.4289T>A (p.Ile1430Asn)
c.4238T>A (p.Ile1413Asn)
c.1370T>A (p.Ile457Asn)
18g.33744254T>CCA402190838ASXL3c.4409T>C (p.Ile1470Thr)
c.4406T>C (p.Ile1469Thr)
c.4286T>C (p.Ile1429Thr)
c.4382T>C (p.Ile1461Thr)
c.4328T>C (p.Ile1443Thr)
c.4289T>C (p.Ile1430Thr)
c.4238T>C (p.Ile1413Thr)
c.1370T>C (p.Ile457Thr)
18g.33744254T>GCA402190839ASXL3c.4409T>G (p.Ile1470Ser)
c.4406T>G (p.Ile1469Ser)
c.4286T>G (p.Ile1429Ser)
c.4382T>G (p.Ile1461Ser)
c.4328T>G (p.Ile1443Ser)
c.4289T>G (p.Ile1430Ser)
c.4238T>G (p.Ile1413Ser)
c.1370T>G (p.Ile457Ser)
18g.33744255T>ACA503770258ASXL3c.4410T>A (p.Ile1470=)
c.4407T>A (p.Ile1469=)
c.4287T>A (p.Ile1429=)
c.4383T>A (p.Ile1461=)
c.4329T>A (p.Ile1443=)
c.4290T>A (p.Ile1430=)
c.4239T>A (p.Ile1413=)
c.1371T>A (p.Ile457=)
18g.33744255T>CCA503770259ASXL3c.4410T>C (p.Ile1470=)
c.4407T>C (p.Ile1469=)
c.4287T>C (p.Ile1429=)
c.4383T>C (p.Ile1461=)
c.4329T>C (p.Ile1443=)
c.4290T>C (p.Ile1430=)
c.4239T>C (p.Ile1413=)
c.1371T>C (p.Ile457=)
18g.33744255T>GCA402190840ASXL3c.4410T>G (p.Ile1470Met)
c.4407T>G (p.Ile1469Met)
c.4287T>G (p.Ile1429Met)
c.4383T>G (p.Ile1461Met)
c.4329T>G (p.Ile1443Met)
c.4290T>G (p.Ile1430Met)
c.4239T>G (p.Ile1413Met)
c.1371T>G (p.Ile457Met)
18g.33744256C>ACA402190841ASXL3c.4411C>A (p.Pro1471Thr)
c.4408C>A (p.Pro1470Thr)
c.4288C>A (p.Pro1430Thr)
c.4384C>A (p.Pro1462Thr)
c.4330C>A (p.Pro1444Thr)
c.4291C>A (p.Pro1431Thr)
c.4240C>A (p.Pro1414Thr)
c.1372C>A (p.Pro458Thr)
18g.33744256C>GCA402190842ASXL3c.4411C>G (p.Pro1471Ala)
c.4408C>G (p.Pro1470Ala)
c.4288C>G (p.Pro1430Ala)
c.4384C>G (p.Pro1462Ala)
c.4330C>G (p.Pro1444Ala)
c.4291C>G (p.Pro1431Ala)
c.4240C>G (p.Pro1414Ala)
c.1372C>G (p.Pro458Ala)
18g.33744256C>TCA402190843ASXL3c.4411C>T (p.Pro1471Ser)
c.4408C>T (p.Pro1470Ser)
c.4288C>T (p.Pro1430Ser)
c.4384C>T (p.Pro1462Ser)
c.4330C>T (p.Pro1444Ser)
c.4291C>T (p.Pro1431Ser)
c.4240C>T (p.Pro1414Ser)
c.1372C>T (p.Pro458Ser)
 gnomAD v4 COSMIC
18g.33744257delCA2580095669ASXL3c.4412del (p.Pro1471ArgfsTer12)
c.4409del (p.Pro1470ArgfsTer12)
c.4289del (p.Pro1430ArgfsTer12)
c.4385del (p.Pro1462ArgfsTer12)
c.4331del (p.Pro1444ArgfsTer12)
c.4292del (p.Pro1431ArgfsTer12)
c.4241del (p.Pro1414ArgfsTer12)
c.1373del (p.Pro458ArgfsTer12)
 ClinVar
18g.33744257C>ACA402190844ASXL3c.4412C>A (p.Pro1471Gln)
c.4409C>A (p.Pro1470Gln)
c.4289C>A (p.Pro1430Gln)
c.4385C>A (p.Pro1462Gln)
c.4331C>A (p.Pro1444Gln)
c.4292C>A (p.Pro1431Gln)
c.4241C>A (p.Pro1414Gln)
c.1373C>A (p.Pro458Gln)
 gnomAD v4 COSMIC
18g.33744257C=CA2294858062ASXL3c.4412C= (p.Pro1471=)
c.4409C= (p.Pro1470=)
c.4289C= (p.Pro1430=)
c.4385C= (p.Pro1462=)
c.4331C= (p.Pro1444=)
c.4292C= (p.Pro1431=)
c.4241C= (p.Pro1414=)
c.1373C= (p.Pro458=)
18g.33744257C>GCA402190845ASXL3c.4412C>G (p.Pro1471Arg)
c.4409C>G (p.Pro1470Arg)
c.4289C>G (p.Pro1430Arg)
c.4385C>G (p.Pro1462Arg)
c.4331C>G (p.Pro1444Arg)
c.4292C>G (p.Pro1431Arg)
c.4241C>G (p.Pro1414Arg)
c.1373C>G (p.Pro458Arg)
 gnomAD v4
18g.33744257C>TCA402190846ASXL3c.4412C>T (p.Pro1471Leu)
c.4409C>T (p.Pro1470Leu)
c.4289C>T (p.Pro1430Leu)
c.4385C>T (p.Pro1462Leu)
c.4331C>T (p.Pro1444Leu)
c.4292C>T (p.Pro1431Leu)
c.4241C>T (p.Pro1414Leu)
c.1373C>T (p.Pro458Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
18g.33744258G>ACA503770269ASXL3c.4413G>A (p.Pro1471=)
c.4410G>A (p.Pro1470=)
c.4290G>A (p.Pro1430=)
c.4386G>A (p.Pro1462=)
c.4332G>A (p.Pro1444=)
c.4293G>A (p.Pro1431=)
c.4242G>A (p.Pro1414=)
c.1374G>A (p.Pro458=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744258G>CCA503770266ASXL3c.4413G>C (p.Pro1471=)
c.4410G>C (p.Pro1470=)
c.4290G>C (p.Pro1430=)
c.4386G>C (p.Pro1462=)
c.4332G>C (p.Pro1444=)
c.4293G>C (p.Pro1431=)
c.4242G>C (p.Pro1414=)
c.1374G>C (p.Pro458=)
 gnomAD v4
18g.33744258G=CA2294858063ASXL3c.4413G= (p.Pro1471=)
c.4410G= (p.Pro1470=)
c.4290G= (p.Pro1430=)
c.4386G= (p.Pro1462=)
c.4332G= (p.Pro1444=)
c.4293G= (p.Pro1431=)
c.4242G= (p.Pro1414=)
c.1374G= (p.Pro458=)
18g.33744258G>TCA503770267ASXL3c.4413G>T (p.Pro1471=)
c.4410G>T (p.Pro1470=)
c.4290G>T (p.Pro1430=)
c.4386G>T (p.Pro1462=)
c.4332G>T (p.Pro1444=)
c.4293G>T (p.Pro1431=)
c.4242G>T (p.Pro1414=)
c.1374G>T (p.Pro458=)
18g.33744259T>ACA402190847ASXL3c.4414T>A (p.Cys1472Ser)
c.4411T>A (p.Cys1471Ser)
c.4291T>A (p.Cys1431Ser)
c.4387T>A (p.Cys1463Ser)
c.4333T>A (p.Cys1445Ser)
c.4294T>A (p.Cys1432Ser)
c.4243T>A (p.Cys1415Ser)
c.1375T>A (p.Cys459Ser)
18g.33744259T>CCA402190848ASXL3c.4414T>C (p.Cys1472Arg)
c.4411T>C (p.Cys1471Arg)
c.4291T>C (p.Cys1431Arg)
c.4387T>C (p.Cys1463Arg)
c.4333T>C (p.Cys1445Arg)
c.4294T>C (p.Cys1432Arg)
c.4243T>C (p.Cys1415Arg)
c.1375T>C (p.Cys459Arg)
18g.33744259T>GCA402190849ASXL3c.4414T>G (p.Cys1472Gly)
c.4411T>G (p.Cys1471Gly)
c.4291T>G (p.Cys1431Gly)
c.4387T>G (p.Cys1463Gly)
c.4333T>G (p.Cys1445Gly)
c.4294T>G (p.Cys1432Gly)
c.4243T>G (p.Cys1415Gly)
c.1375T>G (p.Cys459Gly)
18g.33744260G>ACA402190850ASXL3c.4415G>A (p.Cys1472Tyr)
c.4412G>A (p.Cys1471Tyr)
c.4292G>A (p.Cys1431Tyr)
c.4388G>A (p.Cys1463Tyr)
c.4334G>A (p.Cys1445Tyr)
c.4295G>A (p.Cys1432Tyr)
c.4244G>A (p.Cys1415Tyr)
c.1376G>A (p.Cys459Tyr)
 dbSNP gnomAD v2 gnomAD v4
18g.33744260G>CCA402190851ASXL3c.4415G>C (p.Cys1472Ser)
c.4412G>C (p.Cys1471Ser)
c.4292G>C (p.Cys1431Ser)
c.4388G>C (p.Cys1463Ser)
c.4334G>C (p.Cys1445Ser)
c.4295G>C (p.Cys1432Ser)
c.4244G>C (p.Cys1415Ser)
c.1376G>C (p.Cys459Ser)
 gnomAD v4
18g.33744260G=CA2294858064ASXL3c.4415G= (p.Cys1472=)
c.4412G= (p.Cys1471=)
c.4292G= (p.Cys1431=)
c.4388G= (p.Cys1463=)
c.4334G= (p.Cys1445=)
c.4295G= (p.Cys1432=)
c.4244G= (p.Cys1415=)
c.1376G= (p.Cys459=)
18g.33744260G>TCA402190852ASXL3c.4415G>T (p.Cys1472Phe)
c.4412G>T (p.Cys1471Phe)
c.4292G>T (p.Cys1431Phe)
c.4388G>T (p.Cys1463Phe)
c.4334G>T (p.Cys1445Phe)
c.4295G>T (p.Cys1432Phe)
c.4244G>T (p.Cys1415Phe)
c.1376G>T (p.Cys459Phe)
18g.33744261T>ACA402190853ASXL3c.4416T>A (p.Cys1472Ter)
c.4413T>A (p.Cys1471Ter)
c.4293T>A (p.Cys1431Ter)
c.4389T>A (p.Cys1463Ter)
c.4335T>A (p.Cys1445Ter)
c.4296T>A (p.Cys1432Ter)
c.4245T>A (p.Cys1415Ter)
c.1377T>A (p.Cys459Ter)
18g.33744261T>CCA503770276ASXL3c.4416T>C (p.Cys1472=)
c.4413T>C (p.Cys1471=)
c.4293T>C (p.Cys1431=)
c.4389T>C (p.Cys1463=)
c.4335T>C (p.Cys1445=)
c.4296T>C (p.Cys1432=)
c.4245T>C (p.Cys1415=)
c.1377T>C (p.Cys459=)
18g.33744261T>GCA402190854ASXL3c.4416T>G (p.Cys1472Trp)
c.4413T>G (p.Cys1471Trp)
c.4293T>G (p.Cys1431Trp)
c.4389T>G (p.Cys1463Trp)
c.4335T>G (p.Cys1445Trp)
c.4296T>G (p.Cys1432Trp)
c.4245T>G (p.Cys1415Trp)
c.1377T>G (p.Cys459Trp)
18g.33744262A=CA2294858065ASXL3c.4417A= (p.Lys1473=)
c.4414A= (p.Lys1472=)
c.4294A= (p.Lys1432=)
c.4390A= (p.Lys1464=)
c.4336A= (p.Lys1446=)
c.4297A= (p.Lys1433=)
c.4246A= (p.Lys1416=)
c.1378A= (p.Lys460=)
18g.33744262A>CCA402190857ASXL3c.4417A>C (p.Lys1473Gln)
c.4414A>C (p.Lys1472Gln)
c.4294A>C (p.Lys1432Gln)
c.4390A>C (p.Lys1464Gln)
c.4336A>C (p.Lys1446Gln)
c.4297A>C (p.Lys1433Gln)
c.4246A>C (p.Lys1416Gln)
c.1378A>C (p.Lys460Gln)
18g.33744262A>GCA402190855ASXL3c.4417A>G (p.Lys1473Glu)
c.4414A>G (p.Lys1472Glu)
c.4294A>G (p.Lys1432Glu)
c.4390A>G (p.Lys1464Glu)
c.4336A>G (p.Lys1446Glu)
c.4297A>G (p.Lys1433Glu)
c.4246A>G (p.Lys1416Glu)
c.1378A>G (p.Lys460Glu)
 dbSNP gnomAD v2 gnomAD v4
18g.33744262A>TCA402190856ASXL3c.4417A>T (p.Lys1473Ter)
c.4414A>T (p.Lys1472Ter)
c.4294A>T (p.Lys1432Ter)
c.4390A>T (p.Lys1464Ter)
c.4336A>T (p.Lys1446Ter)
c.4297A>T (p.Lys1433Ter)
c.4246A>T (p.Lys1416Ter)
c.1378A>T (p.Lys460Ter)
18g.33744263A>CCA402190858ASXL3c.4418A>C (p.Lys1473Thr)
c.4415A>C (p.Lys1472Thr)
c.4295A>C (p.Lys1432Thr)
c.4391A>C (p.Lys1464Thr)
c.4337A>C (p.Lys1446Thr)
c.4298A>C (p.Lys1433Thr)
c.4247A>C (p.Lys1416Thr)
c.1379A>C (p.Lys460Thr)
18g.33744263A>GCA402190859ASXL3c.4418A>G (p.Lys1473Arg)
c.4415A>G (p.Lys1472Arg)
c.4295A>G (p.Lys1432Arg)
c.4391A>G (p.Lys1464Arg)
c.4337A>G (p.Lys1446Arg)
c.4298A>G (p.Lys1433Arg)
c.4247A>G (p.Lys1416Arg)
c.1379A>G (p.Lys460Arg)
18g.33744263A>TCA402190860ASXL3c.4418A>T (p.Lys1473Ile)
c.4415A>T (p.Lys1472Ile)
c.4295A>T (p.Lys1432Ile)
c.4391A>T (p.Lys1464Ile)
c.4337A>T (p.Lys1446Ile)
c.4298A>T (p.Lys1433Ile)
c.4247A>T (p.Lys1416Ile)
c.1379A>T (p.Lys460Ile)
18g.33744264A=CA2294858066ASXL3c.4419A= (p.Lys1473=)
c.4416A= (p.Lys1472=)
c.4296A= (p.Lys1432=)
c.4392A= (p.Lys1464=)
c.4338A= (p.Lys1446=)
c.4299A= (p.Lys1433=)
c.4248A= (p.Lys1416=)
c.1380A= (p.Lys460=)
18g.33744264A>CCA402190861ASXL3c.4419A>C (p.Lys1473Asn)
c.4416A>C (p.Lys1472Asn)
c.4296A>C (p.Lys1432Asn)
c.4392A>C (p.Lys1464Asn)
c.4338A>C (p.Lys1446Asn)
c.4299A>C (p.Lys1433Asn)
c.4248A>C (p.Lys1416Asn)
c.1380A>C (p.Lys460Asn)
18g.33744264A>GCA503770284ASXL3c.4419A>G (p.Lys1473=)
c.4416A>G (p.Lys1472=)
c.4296A>G (p.Lys1432=)
c.4392A>G (p.Lys1464=)
c.4338A>G (p.Lys1446=)
c.4299A>G (p.Lys1433=)
c.4248A>G (p.Lys1416=)
c.1380A>G (p.Lys460=)
 dbSNP
18g.33744264A>TCA402190862ASXL3c.4419A>T (p.Lys1473Asn)
c.4416A>T (p.Lys1472Asn)
c.4296A>T (p.Lys1432Asn)
c.4392A>T (p.Lys1464Asn)
c.4338A>T (p.Lys1446Asn)
c.4299A>T (p.Lys1433Asn)
c.4248A>T (p.Lys1416Asn)
c.1380A>T (p.Lys460Asn)
18g.33744265G>ACA402190863ASXL3c.4420G>A (p.Val1474Ile)
c.4417G>A (p.Val1473Ile)
c.4297G>A (p.Val1433Ile)
c.4393G>A (p.Val1465Ile)
c.4339G>A (p.Val1447Ile)
c.4300G>A (p.Val1434Ile)
c.4249G>A (p.Val1417Ile)
c.1381G>A (p.Val461Ile)
18g.33744265G>CCA402190864ASXL3c.4420G>C (p.Val1474Leu)
c.4417G>C (p.Val1473Leu)
c.4297G>C (p.Val1433Leu)
c.4393G>C (p.Val1465Leu)
c.4339G>C (p.Val1447Leu)
c.4300G>C (p.Val1434Leu)
c.4249G>C (p.Val1417Leu)
c.1381G>C (p.Val461Leu)
18g.33744265G>TCA402190865ASXL3c.4420G>T (p.Val1474Phe)
c.4417G>T (p.Val1473Phe)
c.4297G>T (p.Val1433Phe)
c.4393G>T (p.Val1465Phe)
c.4339G>T (p.Val1447Phe)
c.4300G>T (p.Val1434Phe)
c.4249G>T (p.Val1417Phe)
c.1381G>T (p.Val461Phe)
18g.33744266T>ACA402190866ASXL3c.4421T>A (p.Val1474Asp)
c.4418T>A (p.Val1473Asp)
c.4298T>A (p.Val1433Asp)
c.4394T>A (p.Val1465Asp)
c.4340T>A (p.Val1447Asp)
c.4301T>A (p.Val1434Asp)
c.4250T>A (p.Val1417Asp)
c.1382T>A (p.Val461Asp)
18g.33744266T>CCA402190867ASXL3c.4421T>C (p.Val1474Ala)
c.4418T>C (p.Val1473Ala)
c.4298T>C (p.Val1433Ala)
c.4394T>C (p.Val1465Ala)
c.4340T>C (p.Val1447Ala)
c.4301T>C (p.Val1434Ala)
c.4250T>C (p.Val1417Ala)
c.1382T>C (p.Val461Ala)
18g.33744266T>GCA402190868ASXL3c.4421T>G (p.Val1474Gly)
c.4418T>G (p.Val1473Gly)
c.4298T>G (p.Val1433Gly)
c.4394T>G (p.Val1465Gly)
c.4340T>G (p.Val1447Gly)
c.4301T>G (p.Val1434Gly)
c.4250T>G (p.Val1417Gly)
c.1382T>G (p.Val461Gly)
18g.33744267C>ACA8934258ASXL3c.4422C>A (p.Val1474=)
c.4419C>A (p.Val1473=)
c.4299C>A (p.Val1433=)
c.4395C>A (p.Val1465=)
c.4341C>A (p.Val1447=)
c.4302C>A (p.Val1434=)
c.4251C>A (p.Val1417=)
c.1383C>A (p.Val461=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
18g.33744267C=CA2294858067ASXL3c.4422C= (p.Val1474=)
c.4419C= (p.Val1473=)
c.4299C= (p.Val1433=)
c.4395C= (p.Val1465=)
c.4341C= (p.Val1447=)
c.4302C= (p.Val1434=)
c.4251C= (p.Val1417=)
c.1383C= (p.Val461=)
18g.33744267C>GCA503770288ASXL3c.4422C>G (p.Val1474=)
c.4419C>G (p.Val1473=)
c.4299C>G (p.Val1433=)
c.4395C>G (p.Val1465=)
c.4341C>G (p.Val1447=)
c.4302C>G (p.Val1434=)
c.4251C>G (p.Val1417=)
c.1383C>G (p.Val461=)
18g.33744267C>TCA503770289ASXL3c.4422C>T (p.Val1474=)
c.4419C>T (p.Val1473=)
c.4299C>T (p.Val1433=)
c.4395C>T (p.Val1465=)
c.4341C>T (p.Val1447=)
c.4302C>T (p.Val1434=)
c.4251C>T (p.Val1417=)
c.1383C>T (p.Val461=)
18g.33744268A=CA2294858068ASXL3c.4423A= (p.Ile1475=)
c.4420A= (p.Ile1474=)
c.4300A= (p.Ile1434=)
c.4396A= (p.Ile1466=)
c.4342A= (p.Ile1448=)
c.4303A= (p.Ile1435=)
c.4252A= (p.Ile1418=)
c.1384A= (p.Ile462=)
18g.33744268A>CCA402190871ASXL3c.4423A>C (p.Ile1475Leu)
c.4420A>C (p.Ile1474Leu)
c.4300A>C (p.Ile1434Leu)
c.4396A>C (p.Ile1466Leu)
c.4342A>C (p.Ile1448Leu)
c.4303A>C (p.Ile1435Leu)
c.4252A>C (p.Ile1418Leu)
c.1384A>C (p.Ile462Leu)
18g.33744268A>GCA402190870ASXL3c.4423A>G (p.Ile1475Val)
c.4420A>G (p.Ile1474Val)
c.4300A>G (p.Ile1434Val)
c.4396A>G (p.Ile1466Val)
c.4342A>G (p.Ile1448Val)
c.4303A>G (p.Ile1435Val)
c.4252A>G (p.Ile1418Val)
c.1384A>G (p.Ile462Val)
 dbSNP gnomAD v2 gnomAD v4
18g.33744268A>TCA402190869ASXL3c.4423A>T (p.Ile1475Phe)
c.4420A>T (p.Ile1474Phe)
c.4300A>T (p.Ile1434Phe)
c.4396A>T (p.Ile1466Phe)
c.4342A>T (p.Ile1448Phe)
c.4303A>T (p.Ile1435Phe)
c.4252A>T (p.Ile1418Phe)
c.1384A>T (p.Ile462Phe)
18g.33744269T>ACA402190872ASXL3c.4424T>A (p.Ile1475Asn)
c.4421T>A (p.Ile1474Asn)
c.4301T>A (p.Ile1434Asn)
c.4397T>A (p.Ile1466Asn)
c.4343T>A (p.Ile1448Asn)
c.4304T>A (p.Ile1435Asn)
c.4253T>A (p.Ile1418Asn)
c.1385T>A (p.Ile462Asn)
18g.33744269T>CCA402190873ASXL3c.4424T>C (p.Ile1475Thr)
c.4421T>C (p.Ile1474Thr)
c.4301T>C (p.Ile1434Thr)
c.4397T>C (p.Ile1466Thr)
c.4343T>C (p.Ile1448Thr)
c.4304T>C (p.Ile1435Thr)
c.4253T>C (p.Ile1418Thr)
c.1385T>C (p.Ile462Thr)
18g.33744269T>GCA402190874ASXL3c.4424T>G (p.Ile1475Ser)
c.4421T>G (p.Ile1474Ser)
c.4301T>G (p.Ile1434Ser)
c.4397T>G (p.Ile1466Ser)
c.4343T>G (p.Ile1448Ser)
c.4304T>G (p.Ile1435Ser)
c.4253T>G (p.Ile1418Ser)
c.1385T>G (p.Ile462Ser)
18g.33744270C>ACA503770292ASXL3c.4425C>A (p.Ile1475=)
c.4422C>A (p.Ile1474=)
c.4302C>A (p.Ile1434=)
c.4398C>A (p.Ile1466=)
c.4344C>A (p.Ile1448=)
c.4305C>A (p.Ile1435=)
c.4254C>A (p.Ile1418=)
c.1386C>A (p.Ile462=)
 dbSNP
18g.33744270C=CA2294858069ASXL3c.4425C= (p.Ile1475=)
c.4422C= (p.Ile1474=)
c.4302C= (p.Ile1434=)
c.4398C= (p.Ile1466=)
c.4344C= (p.Ile1448=)
c.4305C= (p.Ile1435=)
c.4254C= (p.Ile1418=)
c.1386C= (p.Ile462=)
18g.33744270C>GCA402190875ASXL3c.4425C>G (p.Ile1475Met)
c.4422C>G (p.Ile1474Met)
c.4302C>G (p.Ile1434Met)
c.4398C>G (p.Ile1466Met)
c.4344C>G (p.Ile1448Met)
c.4305C>G (p.Ile1435Met)
c.4254C>G (p.Ile1418Met)
c.1386C>G (p.Ile462Met)
18g.33744270C>TCA503770296ASXL3c.4425C>T (p.Ile1475=)
c.4422C>T (p.Ile1474=)
c.4302C>T (p.Ile1434=)
c.4398C>T (p.Ile1466=)
c.4344C>T (p.Ile1448=)
c.4305C>T (p.Ile1435=)
c.4254C>T (p.Ile1418=)
c.1386C>T (p.Ile462=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744271G>ACA8934259ASXL3c.4426G>A (p.Val1476Ile)
c.4423G>A (p.Val1475Ile)
c.4303G>A (p.Val1435Ile)
c.4399G>A (p.Val1467Ile)
c.4345G>A (p.Val1449Ile)
c.4306G>A (p.Val1436Ile)
c.4255G>A (p.Val1419Ile)
c.1387G>A (p.Val463Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744271G>CCA402190876ASXL3c.4426G>C (p.Val1476Leu)
c.4423G>C (p.Val1475Leu)
c.4303G>C (p.Val1435Leu)
c.4399G>C (p.Val1467Leu)
c.4345G>C (p.Val1449Leu)
c.4306G>C (p.Val1436Leu)
c.4255G>C (p.Val1419Leu)
c.1387G>C (p.Val463Leu)
18g.33744271G=CA2294858070ASXL3c.4426G= (p.Val1476=)
c.4423G= (p.Val1475=)
c.4303G= (p.Val1435=)
c.4399G= (p.Val1467=)
c.4345G= (p.Val1449=)
c.4306G= (p.Val1436=)
c.4255G= (p.Val1419=)
c.1387G= (p.Val463=)
18g.33744271G>TCA402190877ASXL3c.4426G>T (p.Val1476Phe)
c.4423G>T (p.Val1475Phe)
c.4303G>T (p.Val1435Phe)
c.4399G>T (p.Val1467Phe)
c.4345G>T (p.Val1449Phe)
c.4306G>T (p.Val1436Phe)
c.4255G>T (p.Val1419Phe)
c.1387G>T (p.Val463Phe)
18g.33744272T>ACA402190878ASXL3c.4427T>A (p.Val1476Asp)
c.4424T>A (p.Val1475Asp)
c.4304T>A (p.Val1435Asp)
c.4400T>A (p.Val1467Asp)
c.4346T>A (p.Val1449Asp)
c.4307T>A (p.Val1436Asp)
c.4256T>A (p.Val1419Asp)
c.1388T>A (p.Val463Asp)
 COSMIC
18g.33744272T>CCA402190879ASXL3c.4427T>C (p.Val1476Ala)
c.4424T>C (p.Val1475Ala)
c.4304T>C (p.Val1435Ala)
c.4400T>C (p.Val1467Ala)
c.4346T>C (p.Val1449Ala)
c.4307T>C (p.Val1436Ala)
c.4256T>C (p.Val1419Ala)
c.1388T>C (p.Val463Ala)
 gnomAD v4
18g.33744272T>GCA402190880ASXL3c.4427T>G (p.Val1476Gly)
c.4424T>G (p.Val1475Gly)
c.4304T>G (p.Val1435Gly)
c.4400T>G (p.Val1467Gly)
c.4346T>G (p.Val1449Gly)
c.4307T>G (p.Val1436Gly)
c.4256T>G (p.Val1419Gly)
c.1388T>G (p.Val463Gly)
18g.33744273T>ACA503770301ASXL3c.4428T>A (p.Val1476=)
c.4425T>A (p.Val1475=)
c.4305T>A (p.Val1435=)
c.4401T>A (p.Val1467=)
c.4347T>A (p.Val1449=)
c.4308T>A (p.Val1436=)
c.4257T>A (p.Val1419=)
c.1389T>A (p.Val463=)
18g.33744273T>CCA503770303ASXL3c.4428T>C (p.Val1476=)
c.4425T>C (p.Val1475=)
c.4305T>C (p.Val1435=)
c.4401T>C (p.Val1467=)
c.4347T>C (p.Val1449=)
c.4308T>C (p.Val1436=)
c.4257T>C (p.Val1419=)
c.1389T>C (p.Val463=)
18g.33744273T>GCA503770305ASXL3c.4428T>G (p.Val1476=)
c.4425T>G (p.Val1475=)
c.4305T>G (p.Val1435=)
c.4401T>G (p.Val1467=)
c.4347T>G (p.Val1449=)
c.4308T>G (p.Val1436=)
c.4257T>G (p.Val1419=)
c.1389T>G (p.Val463=)
18g.33744274G>ACA402190881ASXL3c.4429G>A (p.Asp1477Asn)
c.4426G>A (p.Asp1476Asn)
c.4306G>A (p.Asp1436Asn)
c.4402G>A (p.Asp1468Asn)
c.4348G>A (p.Asp1450Asn)
c.4309G>A (p.Asp1437Asn)
c.4258G>A (p.Asp1420Asn)
c.1390G>A (p.Asp464Asn)
18g.33744274G>CCA402190882ASXL3c.4429G>C (p.Asp1477His)
c.4426G>C (p.Asp1476His)
c.4306G>C (p.Asp1436His)
c.4402G>C (p.Asp1468His)
c.4348G>C (p.Asp1450His)
c.4309G>C (p.Asp1437His)
c.4258G>C (p.Asp1420His)
c.1390G>C (p.Asp464His)
18g.33744274G>TCA402190883ASXL3c.4429G>T (p.Asp1477Tyr)
c.4426G>T (p.Asp1476Tyr)
c.4306G>T (p.Asp1436Tyr)
c.4402G>T (p.Asp1468Tyr)
c.4348G>T (p.Asp1450Tyr)
c.4309G>T (p.Asp1437Tyr)
c.4258G>T (p.Asp1420Tyr)
c.1390G>T (p.Asp464Tyr)
18g.33744275A>CCA402190885ASXL3c.4430A>C (p.Asp1477Ala)
c.4427A>C (p.Asp1476Ala)
c.4307A>C (p.Asp1436Ala)
c.4403A>C (p.Asp1468Ala)
c.4349A>C (p.Asp1450Ala)
c.4310A>C (p.Asp1437Ala)
c.4259A>C (p.Asp1420Ala)
c.1391A>C (p.Asp464Ala)
18g.33744275A>GCA402190886ASXL3c.4430A>G (p.Asp1477Gly)
c.4427A>G (p.Asp1476Gly)
c.4307A>G (p.Asp1436Gly)
c.4403A>G (p.Asp1468Gly)
c.4349A>G (p.Asp1450Gly)
c.4310A>G (p.Asp1437Gly)
c.4259A>G (p.Asp1420Gly)
c.1391A>G (p.Asp464Gly)
18g.33744275A>TCA402190884ASXL3c.4430A>T (p.Asp1477Val)
c.4427A>T (p.Asp1476Val)
c.4307A>T (p.Asp1436Val)
c.4403A>T (p.Asp1468Val)
c.4349A>T (p.Asp1450Val)
c.4310A>T (p.Asp1437Val)
c.4259A>T (p.Asp1420Val)
c.1391A>T (p.Asp464Val)
18g.33744276C>ACA402190887ASXL3c.4431C>A (p.Asp1477Glu)
c.4428C>A (p.Asp1476Glu)
c.4308C>A (p.Asp1436Glu)
c.4404C>A (p.Asp1468Glu)
c.4350C>A (p.Asp1450Glu)
c.4311C>A (p.Asp1437Glu)
c.4260C>A (p.Asp1420Glu)
c.1392C>A (p.Asp464Glu)
18g.33744276C>GCA402190888ASXL3c.4431C>G (p.Asp1477Glu)
c.4428C>G (p.Asp1476Glu)
c.4308C>G (p.Asp1436Glu)
c.4404C>G (p.Asp1468Glu)
c.4350C>G (p.Asp1450Glu)
c.4311C>G (p.Asp1437Glu)
c.4260C>G (p.Asp1420Glu)
c.1392C>G (p.Asp464Glu)
18g.33744276C>TCA503770310ASXL3c.4431C>T (p.Asp1477=)
c.4428C>T (p.Asp1476=)
c.4308C>T (p.Asp1436=)
c.4404C>T (p.Asp1468=)
c.4350C>T (p.Asp1450=)
c.4311C>T (p.Asp1437=)
c.4260C>T (p.Asp1420=)
c.1392C>T (p.Asp464=)
18g.33744277C>ACA402190889ASXL3c.4432C>A (p.His1478Asn)
c.4429C>A (p.His1477Asn)
c.4309C>A (p.His1437Asn)
c.4405C>A (p.His1469Asn)
c.4351C>A (p.His1451Asn)
c.4312C>A (p.His1438Asn)
c.4261C>A (p.His1421Asn)
c.1393C>A (p.His465Asn)
18g.33744277C>GCA402190890ASXL3c.4432C>G (p.His1478Asp)
c.4429C>G (p.His1477Asp)
c.4309C>G (p.His1437Asp)
c.4405C>G (p.His1469Asp)
c.4351C>G (p.His1451Asp)
c.4312C>G (p.His1438Asp)
c.4261C>G (p.His1421Asp)
c.1393C>G (p.His465Asp)
18g.33744277C>TCA402190891ASXL3c.4432C>T (p.His1478Tyr)
c.4429C>T (p.His1477Tyr)
c.4309C>T (p.His1437Tyr)
c.4405C>T (p.His1469Tyr)
c.4351C>T (p.His1451Tyr)
c.4312C>T (p.His1438Tyr)
c.4261C>T (p.His1421Tyr)
c.1393C>T (p.His465Tyr)
 COSMIC
18g.33744278A>CCA402190892ASXL3c.4433A>C (p.His1478Pro)
c.4430A>C (p.His1477Pro)
c.4310A>C (p.His1437Pro)
c.4406A>C (p.His1469Pro)
c.4352A>C (p.His1451Pro)
c.4313A>C (p.His1438Pro)
c.4262A>C (p.His1421Pro)
c.1394A>C (p.His465Pro)
18g.33744278A>GCA402190893ASXL3c.4433A>G (p.His1478Arg)
c.4430A>G (p.His1477Arg)
c.4310A>G (p.His1437Arg)
c.4406A>G (p.His1469Arg)
c.4352A>G (p.His1451Arg)
c.4313A>G (p.His1438Arg)
c.4262A>G (p.His1421Arg)
c.1394A>G (p.His465Arg)
18g.33744278A>TCA402190894ASXL3c.4433A>T (p.His1478Leu)
c.4430A>T (p.His1477Leu)
c.4310A>T (p.His1437Leu)
c.4406A>T (p.His1469Leu)
c.4352A>T (p.His1451Leu)
c.4313A>T (p.His1438Leu)
c.4262A>T (p.His1421Leu)
c.1394A>T (p.His465Leu)
18g.33744279C>ACA402190895ASXL3c.4434C>A (p.His1478Gln)
c.4431C>A (p.His1477Gln)
c.4311C>A (p.His1437Gln)
c.4407C>A (p.His1469Gln)
c.4353C>A (p.His1451Gln)
c.4314C>A (p.His1438Gln)
c.4263C>A (p.His1421Gln)
c.1395C>A (p.His465Gln)
18g.33744279C>GCA402190896ASXL3c.4434C>G (p.His1478Gln)
c.4431C>G (p.His1477Gln)
c.4311C>G (p.His1437Gln)
c.4407C>G (p.His1469Gln)
c.4353C>G (p.His1451Gln)
c.4314C>G (p.His1438Gln)
c.4263C>G (p.His1421Gln)
c.1395C>G (p.His465Gln)
18g.33744279C>TCA503770320ASXL3c.4434C>T (p.His1478=)
c.4431C>T (p.His1477=)
c.4311C>T (p.His1437=)
c.4407C>T (p.His1469=)
c.4353C>T (p.His1451=)
c.4314C>T (p.His1438=)
c.4263C>T (p.His1421=)
c.1395C>T (p.His465=)
 gnomAD v4
18g.33744280A>CCA402190897ASXL3c.4435A>C (p.Ser1479Arg)
c.4432A>C (p.Ser1478Arg)
c.4312A>C (p.Ser1438Arg)
c.4408A>C (p.Ser1470Arg)
c.4354A>C (p.Ser1452Arg)
c.4315A>C (p.Ser1439Arg)
c.4264A>C (p.Ser1422Arg)
c.1396A>C (p.Ser466Arg)
18g.33744280A>GCA402190898ASXL3c.4435A>G (p.Ser1479Gly)
c.4432A>G (p.Ser1478Gly)
c.4312A>G (p.Ser1438Gly)
c.4408A>G (p.Ser1470Gly)
c.4354A>G (p.Ser1452Gly)
c.4315A>G (p.Ser1439Gly)
c.4264A>G (p.Ser1422Gly)
c.1396A>G (p.Ser466Gly)
18g.33744280A>TCA402190899ASXL3c.4435A>T (p.Ser1479Cys)
c.4432A>T (p.Ser1478Cys)
c.4312A>T (p.Ser1438Cys)
c.4408A>T (p.Ser1470Cys)
c.4354A>T (p.Ser1452Cys)
c.4315A>T (p.Ser1439Cys)
c.4264A>T (p.Ser1422Cys)
c.1396A>T (p.Ser466Cys)
 COSMIC
18g.33744281G>ACA402190902ASXL3c.4436G>A (p.Ser1479Asn)
c.4433G>A (p.Ser1478Asn)
c.4313G>A (p.Ser1438Asn)
c.4409G>A (p.Ser1470Asn)
c.4355G>A (p.Ser1452Asn)
c.4316G>A (p.Ser1439Asn)
c.4265G>A (p.Ser1422Asn)
c.1397G>A (p.Ser466Asn)
18g.33744281G>CCA402190901ASXL3c.4436G>C (p.Ser1479Thr)
c.4433G>C (p.Ser1478Thr)
c.4313G>C (p.Ser1438Thr)
c.4409G>C (p.Ser1470Thr)
c.4355G>C (p.Ser1452Thr)
c.4316G>C (p.Ser1439Thr)
c.4265G>C (p.Ser1422Thr)
c.1397G>C (p.Ser466Thr)
18g.33744281G>TCA402190900ASXL3c.4436G>T (p.Ser1479Ile)
c.4433G>T (p.Ser1478Ile)
c.4313G>T (p.Ser1438Ile)
c.4409G>T (p.Ser1470Ile)
c.4355G>T (p.Ser1452Ile)
c.4316G>T (p.Ser1439Ile)
c.4265G>T (p.Ser1422Ile)
c.1397G>T (p.Ser466Ile)
18g.33744282C>ACA402190903ASXL3c.4437C>A (p.Ser1479Arg)
c.4434C>A (p.Ser1478Arg)
c.4314C>A (p.Ser1438Arg)
c.4410C>A (p.Ser1470Arg)
c.4356C>A (p.Ser1452Arg)
c.4317C>A (p.Ser1439Arg)
c.4266C>A (p.Ser1422Arg)
c.1398C>A (p.Ser466Arg)
18g.33744282C=CA2294858071ASXL3c.4437C= (p.Ser1479=)
c.4434C= (p.Ser1478=)
c.4314C= (p.Ser1438=)
c.4410C= (p.Ser1470=)
c.4356C= (p.Ser1452=)
c.4317C= (p.Ser1439=)
c.4266C= (p.Ser1422=)
c.1398C= (p.Ser466=)
18g.33744282C>GCA402190904ASXL3c.4437C>G (p.Ser1479Arg)
c.4434C>G (p.Ser1478Arg)
c.4314C>G (p.Ser1438Arg)
c.4410C>G (p.Ser1470Arg)
c.4356C>G (p.Ser1452Arg)
c.4317C>G (p.Ser1439Arg)
c.4266C>G (p.Ser1422Arg)
c.1398C>G (p.Ser466Arg)
18g.33744282C>TCA8934260ASXL3c.4437C>T (p.Ser1479=)
c.4434C>T (p.Ser1478=)
c.4314C>T (p.Ser1438=)
c.4410C>T (p.Ser1470=)
c.4356C>T (p.Ser1452=)
c.4317C>T (p.Ser1439=)
c.4266C>T (p.Ser1422=)
c.1398C>T (p.Ser466=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744283A=CA2294858072ASXL3c.4438A= (p.Thr1480=)
c.4435A= (p.Thr1479=)
c.4315A= (p.Thr1439=)
c.4411A= (p.Thr1471=)
c.4357A= (p.Thr1453=)
c.4318A= (p.Thr1440=)
c.4267A= (p.Thr1423=)
c.1399A= (p.Thr467=)
18g.33744283A>CCA402190905ASXL3c.4438A>C (p.Thr1480Pro)
c.4435A>C (p.Thr1479Pro)
c.4315A>C (p.Thr1439Pro)
c.4411A>C (p.Thr1471Pro)
c.4357A>C (p.Thr1453Pro)
c.4318A>C (p.Thr1440Pro)
c.4267A>C (p.Thr1423Pro)
c.1399A>C (p.Thr467Pro)
 dbSNP gnomAD v3 gnomAD v4
18g.33744283A>GCA402190906ASXL3c.4438A>G (p.Thr1480Ala)
c.4435A>G (p.Thr1479Ala)
c.4315A>G (p.Thr1439Ala)
c.4411A>G (p.Thr1471Ala)
c.4357A>G (p.Thr1453Ala)
c.4318A>G (p.Thr1440Ala)
c.4267A>G (p.Thr1423Ala)
c.1399A>G (p.Thr467Ala)
18g.33744283A>TCA402190907ASXL3c.4438A>T (p.Thr1480Ser)
c.4435A>T (p.Thr1479Ser)
c.4315A>T (p.Thr1439Ser)
c.4411A>T (p.Thr1471Ser)
c.4357A>T (p.Thr1453Ser)
c.4318A>T (p.Thr1440Ser)
c.4267A>T (p.Thr1423Ser)
c.1399A>T (p.Thr467Ser)
18g.33744284C>ACA402190908ASXL3c.4439C>A (p.Thr1480Asn)
c.4436C>A (p.Thr1479Asn)
c.4316C>A (p.Thr1439Asn)
c.4412C>A (p.Thr1471Asn)
c.4358C>A (p.Thr1453Asn)
c.4319C>A (p.Thr1440Asn)
c.4268C>A (p.Thr1423Asn)
c.1400C>A (p.Thr467Asn)
 dbSNP gnomAD v2
18g.33744284C=CA2294858073ASXL3c.4439C= (p.Thr1480=)
c.4436C= (p.Thr1479=)
c.4316C= (p.Thr1439=)
c.4412C= (p.Thr1471=)
c.4358C= (p.Thr1453=)
c.4319C= (p.Thr1440=)
c.4268C= (p.Thr1423=)
c.1400C= (p.Thr467=)
18g.33744284C>GCA402190909ASXL3c.4439C>G (p.Thr1480Ser)
c.4436C>G (p.Thr1479Ser)
c.4316C>G (p.Thr1439Ser)
c.4412C>G (p.Thr1471Ser)
c.4358C>G (p.Thr1453Ser)
c.4319C>G (p.Thr1440Ser)
c.4268C>G (p.Thr1423Ser)
c.1400C>G (p.Thr467Ser)
 gnomAD v4
18g.33744284C>TCA402190910ASXL3c.4439C>T (p.Thr1480Ile)
c.4436C>T (p.Thr1479Ile)
c.4316C>T (p.Thr1439Ile)
c.4412C>T (p.Thr1471Ile)
c.4358C>T (p.Thr1453Ile)
c.4319C>T (p.Thr1440Ile)
c.4268C>T (p.Thr1423Ile)
c.1400C>T (p.Thr467Ile)
18g.33744285C>ACA503770332ASXL3c.4440C>A (p.Thr1480=)
c.4437C>A (p.Thr1479=)
c.4317C>A (p.Thr1439=)
c.4413C>A (p.Thr1471=)
c.4359C>A (p.Thr1453=)
c.4320C>A (p.Thr1440=)
c.4269C>A (p.Thr1423=)
c.1401C>A (p.Thr467=)
18g.33744285C>GCA503770331ASXL3c.4440C>G (p.Thr1480=)
c.4437C>G (p.Thr1479=)
c.4317C>G (p.Thr1439=)
c.4413C>G (p.Thr1471=)
c.4359C>G (p.Thr1453=)
c.4320C>G (p.Thr1440=)
c.4269C>G (p.Thr1423=)
c.1401C>G (p.Thr467=)
18g.33744285C>TCA503770329ASXL3c.4440C>T (p.Thr1480=)
c.4437C>T (p.Thr1479=)
c.4317C>T (p.Thr1439=)
c.4413C>T (p.Thr1471=)
c.4359C>T (p.Thr1453=)
c.4320C>T (p.Thr1440=)
c.4269C>T (p.Thr1423=)
c.1401C>T (p.Thr467=)
18g.33744286A>CCA402190911ASXL3c.4441A>C (p.Thr1481Pro)
c.4438A>C (p.Thr1480Pro)
c.4318A>C (p.Thr1440Pro)
c.4414A>C (p.Thr1472Pro)
c.4360A>C (p.Thr1454Pro)
c.4321A>C (p.Thr1441Pro)
c.4270A>C (p.Thr1424Pro)
c.1402A>C (p.Thr468Pro)
 gnomAD v4
18g.33744286A>GCA402190912ASXL3c.4441A>G (p.Thr1481Ala)
c.4438A>G (p.Thr1480Ala)
c.4318A>G (p.Thr1440Ala)
c.4414A>G (p.Thr1472Ala)
c.4360A>G (p.Thr1454Ala)
c.4321A>G (p.Thr1441Ala)
c.4270A>G (p.Thr1424Ala)
c.1402A>G (p.Thr468Ala)
18g.33744286A>TCA402190913ASXL3c.4441A>T (p.Thr1481Ser)
c.4438A>T (p.Thr1480Ser)
c.4318A>T (p.Thr1440Ser)
c.4414A>T (p.Thr1472Ser)
c.4360A>T (p.Thr1454Ser)
c.4321A>T (p.Thr1441Ser)
c.4270A>T (p.Thr1424Ser)
c.1402A>T (p.Thr468Ser)
 COSMIC
18g.33744287C>ACA402190915ASXL3c.4442C>A (p.Thr1481Lys)
c.4439C>A (p.Thr1480Lys)
c.4319C>A (p.Thr1440Lys)
c.4415C>A (p.Thr1472Lys)
c.4361C>A (p.Thr1454Lys)
c.4322C>A (p.Thr1441Lys)
c.4271C>A (p.Thr1424Lys)
c.1403C>A (p.Thr468Lys)
 gnomAD v4
18g.33744287C=CA2294858074ASXL3c.4442C= (p.Thr1481=)
c.4439C= (p.Thr1480=)
c.4319C= (p.Thr1440=)
c.4415C= (p.Thr1472=)
c.4361C= (p.Thr1454=)
c.4322C= (p.Thr1441=)
c.4271C= (p.Thr1424=)
c.1403C= (p.Thr468=)
18g.33744287C>GCA402190914ASXL3c.4442C>G (p.Thr1481Arg)
c.4439C>G (p.Thr1480Arg)
c.4319C>G (p.Thr1440Arg)
c.4415C>G (p.Thr1472Arg)
c.4361C>G (p.Thr1454Arg)
c.4322C>G (p.Thr1441Arg)
c.4271C>G (p.Thr1424Arg)
c.1403C>G (p.Thr468Arg)
18g.33744287C>TCA8934261ASXL3c.4442C>T (p.Thr1481Met)
c.4439C>T (p.Thr1480Met)
c.4319C>T (p.Thr1440Met)
c.4415C>T (p.Thr1472Met)
c.4361C>T (p.Thr1454Met)
c.4322C>T (p.Thr1441Met)
c.4271C>T (p.Thr1424Met)
c.1403C>T (p.Thr468Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744288G>ACA8934262ASXL3c.4443G>A (p.Thr1481=)
c.4440G>A (p.Thr1480=)
c.4320G>A (p.Thr1440=)
c.4416G>A (p.Thr1472=)
c.4362G>A (p.Thr1454=)
c.4323G>A (p.Thr1441=)
c.4272G>A (p.Thr1424=)
c.1404G>A (p.Thr468=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744288G>CCA503770336ASXL3c.4443G>C (p.Thr1481=)
c.4440G>C (p.Thr1480=)
c.4320G>C (p.Thr1440=)
c.4416G>C (p.Thr1472=)
c.4362G>C (p.Thr1454=)
c.4323G>C (p.Thr1441=)
c.4272G>C (p.Thr1424=)
c.1404G>C (p.Thr468=)
18g.33744288G=CA2294858075ASXL3c.4443G= (p.Thr1481=)
c.4440G= (p.Thr1480=)
c.4320G= (p.Thr1440=)
c.4416G= (p.Thr1472=)
c.4362G= (p.Thr1454=)
c.4323G= (p.Thr1441=)
c.4272G= (p.Thr1424=)
c.1404G= (p.Thr468=)
18g.33744288G>TCA503770338ASXL3c.4443G>T (p.Thr1481=)
c.4440G>T (p.Thr1480=)
c.4320G>T (p.Thr1440=)
c.4416G>T (p.Thr1472=)
c.4362G>T (p.Thr1454=)
c.4323G>T (p.Thr1441=)
c.4272G>T (p.Thr1424=)
c.1404G>T (p.Thr468=)
 gnomAD v4
18g.33744289C>ACA402190916ASXL3c.4444C>A (p.Leu1482Met)
c.4441C>A (p.Leu1481Met)
c.4321C>A (p.Leu1441Met)
c.4417C>A (p.Leu1473Met)
c.4363C>A (p.Leu1455Met)
c.4324C>A (p.Leu1442Met)
c.4273C>A (p.Leu1425Met)
c.1405C>A (p.Leu469Met)
18g.33744289C>GCA402190917ASXL3c.4444C>G (p.Leu1482Val)
c.4441C>G (p.Leu1481Val)
c.4321C>G (p.Leu1441Val)
c.4417C>G (p.Leu1473Val)
c.4363C>G (p.Leu1455Val)
c.4324C>G (p.Leu1442Val)
c.4273C>G (p.Leu1425Val)
c.1405C>G (p.Leu469Val)
18g.33744289C>TCA503770342ASXL3c.4444C>T (p.Leu1482=)
c.4441C>T (p.Leu1481=)
c.4321C>T (p.Leu1441=)
c.4417C>T (p.Leu1473=)
c.4363C>T (p.Leu1455=)
c.4324C>T (p.Leu1442=)
c.4273C>T (p.Leu1425=)
c.1405C>T (p.Leu469=)
18g.33744289dupCA2695227408ASXL3c.4444dup (p.Leu1482ProfsTer12)
c.4441dup (p.Leu1481ProfsTer12)
c.4321dup (p.Leu1441ProfsTer12)
c.4417dup (p.Leu1473ProfsTer12)
c.4363dup (p.Leu1455ProfsTer12)
c.4324dup (p.Leu1442ProfsTer12)
c.4273dup (p.Leu1425ProfsTer12)
c.1405dup (p.Leu469ProfsTer12)
18g.33744290T>ACA402190918ASXL3c.4445T>A (p.Leu1482Gln)
c.4442T>A (p.Leu1481Gln)
c.4322T>A (p.Leu1441Gln)
c.4418T>A (p.Leu1473Gln)
c.4364T>A (p.Leu1455Gln)
c.4325T>A (p.Leu1442Gln)
c.4274T>A (p.Leu1425Gln)
c.1406T>A (p.Leu469Gln)
18g.33744290T>CCA402190919ASXL3c.4445T>C (p.Leu1482Pro)
c.4442T>C (p.Leu1481Pro)
c.4322T>C (p.Leu1441Pro)
c.4418T>C (p.Leu1473Pro)
c.4364T>C (p.Leu1455Pro)
c.4325T>C (p.Leu1442Pro)
c.4274T>C (p.Leu1425Pro)
c.1406T>C (p.Leu469Pro)
 dbSNP gnomAD v4
18g.33744290T>GCA402190920ASXL3c.4445T>G (p.Leu1482Arg)
c.4442T>G (p.Leu1481Arg)
c.4322T>G (p.Leu1441Arg)
c.4418T>G (p.Leu1473Arg)
c.4364T>G (p.Leu1455Arg)
c.4325T>G (p.Leu1442Arg)
c.4274T>G (p.Leu1425Arg)
c.1406T>G (p.Leu469Arg)
18g.33744290T=CA2294858076ASXL3c.4445T= (p.Leu1482=)
c.4442T= (p.Leu1481=)
c.4322T= (p.Leu1441=)
c.4418T= (p.Leu1473=)
c.4364T= (p.Leu1455=)
c.4325T= (p.Leu1442=)
c.4274T= (p.Leu1425=)
c.1406T= (p.Leu469=)
18g.33744291G>ACA503770348ASXL3c.4446G>A (p.Leu1482=)
c.4443G>A (p.Leu1481=)
c.4323G>A (p.Leu1441=)
c.4419G>A (p.Leu1473=)
c.4365G>A (p.Leu1455=)
c.4326G>A (p.Leu1442=)
c.4275G>A (p.Leu1425=)
c.1407G>A (p.Leu469=)
18g.33744291G>CCA503770350ASXL3c.4446G>C (p.Leu1482=)
c.4443G>C (p.Leu1481=)
c.4323G>C (p.Leu1441=)
c.4419G>C (p.Leu1473=)
c.4365G>C (p.Leu1455=)
c.4326G>C (p.Leu1442=)
c.4275G>C (p.Leu1425=)
c.1407G>C (p.Leu469=)
18g.33744291G>TCA503770349ASXL3c.4446G>T (p.Leu1482=)
c.4443G>T (p.Leu1481=)
c.4323G>T (p.Leu1441=)
c.4419G>T (p.Leu1473=)
c.4365G>T (p.Leu1455=)
c.4326G>T (p.Leu1442=)
c.4275G>T (p.Leu1425=)
c.1407G>T (p.Leu469=)
18g.33744292A>CCA402190921ASXL3c.4447A>C (p.Thr1483Pro)
c.4444A>C (p.Thr1482Pro)
c.4324A>C (p.Thr1442Pro)
c.4420A>C (p.Thr1474Pro)
c.4366A>C (p.Thr1456Pro)
c.4327A>C (p.Thr1443Pro)
c.4276A>C (p.Thr1426Pro)
c.1408A>C (p.Thr470Pro)
18g.33744292A>GCA402190922ASXL3c.4447A>G (p.Thr1483Ala)
c.4444A>G (p.Thr1482Ala)
c.4324A>G (p.Thr1442Ala)
c.4420A>G (p.Thr1474Ala)
c.4366A>G (p.Thr1456Ala)
c.4327A>G (p.Thr1443Ala)
c.4276A>G (p.Thr1426Ala)
c.1408A>G (p.Thr470Ala)
18g.33744292A>TCA402190923ASXL3c.4447A>T (p.Thr1483Ser)
c.4444A>T (p.Thr1482Ser)
c.4324A>T (p.Thr1442Ser)
c.4420A>T (p.Thr1474Ser)
c.4366A>T (p.Thr1456Ser)
c.4327A>T (p.Thr1443Ser)
c.4276A>T (p.Thr1426Ser)
c.1408A>T (p.Thr470Ser)
18g.33744293C>ACA402190924ASXL3c.4448C>A (p.Thr1483Asn)
c.4445C>A (p.Thr1482Asn)
c.4325C>A (p.Thr1442Asn)
c.4421C>A (p.Thr1474Asn)
c.4367C>A (p.Thr1456Asn)
c.4328C>A (p.Thr1443Asn)
c.4277C>A (p.Thr1426Asn)
c.1409C>A (p.Thr470Asn)
18g.33744293C>GCA402190925ASXL3c.4448C>G (p.Thr1483Ser)
c.4445C>G (p.Thr1482Ser)
c.4325C>G (p.Thr1442Ser)
c.4421C>G (p.Thr1474Ser)
c.4367C>G (p.Thr1456Ser)
c.4328C>G (p.Thr1443Ser)
c.4277C>G (p.Thr1426Ser)
c.1409C>G (p.Thr470Ser)
18g.33744293C>TCA402190926ASXL3c.4448C>T (p.Thr1483Ile)
c.4445C>T (p.Thr1482Ile)
c.4325C>T (p.Thr1442Ile)
c.4421C>T (p.Thr1474Ile)
c.4367C>T (p.Thr1456Ile)
c.4328C>T (p.Thr1443Ile)
c.4277C>T (p.Thr1426Ile)
c.1409C>T (p.Thr470Ile)
18g.33744294C>ACA503770356ASXL3c.4449C>A (p.Thr1483=)
c.4446C>A (p.Thr1482=)
c.4326C>A (p.Thr1442=)
c.4422C>A (p.Thr1474=)
c.4368C>A (p.Thr1456=)
c.4329C>A (p.Thr1443=)
c.4278C>A (p.Thr1426=)
c.1410C>A (p.Thr470=)
18g.33744294C>GCA503770358ASXL3c.4449C>G (p.Thr1483=)
c.4446C>G (p.Thr1482=)
c.4326C>G (p.Thr1442=)
c.4422C>G (p.Thr1474=)
c.4368C>G (p.Thr1456=)
c.4329C>G (p.Thr1443=)
c.4278C>G (p.Thr1426=)
c.1410C>G (p.Thr470=)
18g.33744294C>TCA503770359ASXL3c.4449C>T (p.Thr1483=)
c.4446C>T (p.Thr1482=)
c.4326C>T (p.Thr1442=)
c.4422C>T (p.Thr1474=)
c.4368C>T (p.Thr1456=)
c.4329C>T (p.Thr1443=)
c.4278C>T (p.Thr1426=)
c.1410C>T (p.Thr470=)
18g.33744295T>ACA402190929ASXL3c.4450T>A (p.Ser1484Thr)
c.4447T>A (p.Ser1483Thr)
c.4327T>A (p.Ser1443Thr)
c.4423T>A (p.Ser1475Thr)
c.4369T>A (p.Ser1457Thr)
c.4330T>A (p.Ser1444Thr)
c.4279T>A (p.Ser1427Thr)
c.1411T>A (p.Ser471Thr)
18g.33744295T>CCA402190928ASXL3c.4450T>C (p.Ser1484Pro)
c.4447T>C (p.Ser1483Pro)
c.4327T>C (p.Ser1443Pro)
c.4423T>C (p.Ser1475Pro)
c.4369T>C (p.Ser1457Pro)
c.4330T>C (p.Ser1444Pro)
c.4279T>C (p.Ser1427Pro)
c.1411T>C (p.Ser471Pro)
18g.33744295T>GCA402190927ASXL3c.4450T>G (p.Ser1484Ala)
c.4447T>G (p.Ser1483Ala)
c.4327T>G (p.Ser1443Ala)
c.4423T>G (p.Ser1475Ala)
c.4369T>G (p.Ser1457Ala)
c.4330T>G (p.Ser1444Ala)
c.4279T>G (p.Ser1427Ala)
c.1411T>G (p.Ser471Ala)
 gnomAD v4
18g.33744296C>ACA402190930ASXL3c.4451C>A (p.Ser1484Tyr)
c.4448C>A (p.Ser1483Tyr)
c.4328C>A (p.Ser1443Tyr)
c.4424C>A (p.Ser1475Tyr)
c.4370C>A (p.Ser1457Tyr)
c.4331C>A (p.Ser1444Tyr)
c.4280C>A (p.Ser1427Tyr)
c.1412C>A (p.Ser471Tyr)
18g.33744296C>GCA402190931ASXL3c.4451C>G (p.Ser1484Cys)
c.4448C>G (p.Ser1483Cys)
c.4328C>G (p.Ser1443Cys)
c.4424C>G (p.Ser1475Cys)
c.4370C>G (p.Ser1457Cys)
c.4331C>G (p.Ser1444Cys)
c.4280C>G (p.Ser1427Cys)
c.1412C>G (p.Ser471Cys)
18g.33744296C>TCA402190932ASXL3c.4451C>T (p.Ser1484Phe)
c.4448C>T (p.Ser1483Phe)
c.4328C>T (p.Ser1443Phe)
c.4424C>T (p.Ser1475Phe)
c.4370C>T (p.Ser1457Phe)
c.4331C>T (p.Ser1444Phe)
c.4280C>T (p.Ser1427Phe)
c.1412C>T (p.Ser471Phe)
 COSMIC
18g.33744297C>ACA503770361ASXL3c.4452C>A (p.Ser1484=)
c.4449C>A (p.Ser1483=)
c.4329C>A (p.Ser1443=)
c.4425C>A (p.Ser1475=)
c.4371C>A (p.Ser1457=)
c.4332C>A (p.Ser1444=)
c.4281C>A (p.Ser1427=)
c.1413C>A (p.Ser471=)
18g.33744297C>GCA503770364ASXL3c.4452C>G (p.Ser1484=)
c.4449C>G (p.Ser1483=)
c.4329C>G (p.Ser1443=)
c.4425C>G (p.Ser1475=)
c.4371C>G (p.Ser1457=)
c.4332C>G (p.Ser1444=)
c.4281C>G (p.Ser1427=)
c.1413C>G (p.Ser471=)
18g.33744297C>TCA503770363ASXL3c.4452C>T (p.Ser1484=)
c.4449C>T (p.Ser1483=)
c.4329C>T (p.Ser1443=)
c.4425C>T (p.Ser1475=)
c.4371C>T (p.Ser1457=)
c.4332C>T (p.Ser1444=)
c.4281C>T (p.Ser1427=)
c.1413C>T (p.Ser471=)
18g.33744298A=CA2294858077ASXL3c.4453A= (p.Ser1485=)
c.4450A= (p.Ser1484=)
c.4330A= (p.Ser1444=)
c.4426A= (p.Ser1476=)
c.4372A= (p.Ser1458=)
c.4333A= (p.Ser1445=)
c.4282A= (p.Ser1428=)
c.1414A= (p.Ser472=)
18g.33744298A>CCA402190933ASXL3c.4453A>C (p.Ser1485Arg)
c.4450A>C (p.Ser1484Arg)
c.4330A>C (p.Ser1444Arg)
c.4426A>C (p.Ser1476Arg)
c.4372A>C (p.Ser1458Arg)
c.4333A>C (p.Ser1445Arg)
c.4282A>C (p.Ser1428Arg)
c.1414A>C (p.Ser472Arg)
 ClinVar dbSNP gnomAD v4
18g.33744298A>GCA402190934ASXL3c.4453A>G (p.Ser1485Gly)
c.4450A>G (p.Ser1484Gly)
c.4330A>G (p.Ser1444Gly)
c.4426A>G (p.Ser1476Gly)
c.4372A>G (p.Ser1458Gly)
c.4333A>G (p.Ser1445Gly)
c.4282A>G (p.Ser1428Gly)
c.1414A>G (p.Ser472Gly)
 gnomAD v4
18g.33744298A>TCA402190935ASXL3c.4453A>T (p.Ser1485Cys)
c.4450A>T (p.Ser1484Cys)
c.4330A>T (p.Ser1444Cys)
c.4426A>T (p.Ser1476Cys)
c.4372A>T (p.Ser1458Cys)
c.4333A>T (p.Ser1445Cys)
c.4282A>T (p.Ser1428Cys)
c.1414A>T (p.Ser472Cys)
18g.33744299G>ACA8934263ASXL3c.4454G>A (p.Ser1485Asn)
c.4451G>A (p.Ser1484Asn)
c.4331G>A (p.Ser1444Asn)
c.4427G>A (p.Ser1476Asn)
c.4373G>A (p.Ser1458Asn)
c.4334G>A (p.Ser1445Asn)
c.4283G>A (p.Ser1428Asn)
c.1415G>A (p.Ser472Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744299G>CCA402190936ASXL3c.4454G>C (p.Ser1485Thr)
c.4451G>C (p.Ser1484Thr)
c.4331G>C (p.Ser1444Thr)
c.4427G>C (p.Ser1476Thr)
c.4373G>C (p.Ser1458Thr)
c.4334G>C (p.Ser1445Thr)
c.4283G>C (p.Ser1428Thr)
c.1415G>C (p.Ser472Thr)
18g.33744299G=CA2294858078ASXL3c.4454G= (p.Ser1485=)
c.4451G= (p.Ser1484=)
c.4331G= (p.Ser1444=)
c.4427G= (p.Ser1476=)
c.4373G= (p.Ser1458=)
c.4334G= (p.Ser1445=)
c.4283G= (p.Ser1428=)
c.1415G= (p.Ser472=)
18g.33744299G>TCA402190938ASXL3c.4454G>T (p.Ser1485Ile)
c.4451G>T (p.Ser1484Ile)
c.4331G>T (p.Ser1444Ile)
c.4427G>T (p.Ser1476Ile)
c.4373G>T (p.Ser1458Ile)
c.4334G>T (p.Ser1445Ile)
c.4283G>T (p.Ser1428Ile)
c.1415G>T (p.Ser472Ile)
 gnomAD v4
18g.33744300T>ACA402190941ASXL3c.4455T>A (p.Ser1485Arg)
c.4452T>A (p.Ser1484Arg)
c.4332T>A (p.Ser1444Arg)
c.4428T>A (p.Ser1476Arg)
c.4374T>A (p.Ser1458Arg)
c.4335T>A (p.Ser1445Arg)
c.4284T>A (p.Ser1428Arg)
c.1416T>A (p.Ser472Arg)
18g.33744300T>CCA503770368ASXL3c.4455T>C (p.Ser1485=)
c.4452T>C (p.Ser1484=)
c.4332T>C (p.Ser1444=)
c.4428T>C (p.Ser1476=)
c.4374T>C (p.Ser1458=)
c.4335T>C (p.Ser1445=)
c.4284T>C (p.Ser1428=)
c.1416T>C (p.Ser472=)
18g.33744300T>GCA402190943ASXL3c.4455T>G (p.Ser1485Arg)
c.4452T>G (p.Ser1484Arg)
c.4332T>G (p.Ser1444Arg)
c.4428T>G (p.Ser1476Arg)
c.4374T>G (p.Ser1458Arg)
c.4335T>G (p.Ser1445Arg)
c.4284T>G (p.Ser1428Arg)
c.1416T>G (p.Ser472Arg)
18g.33744301T>ACA402190946ASXL3c.4456T>A (p.Leu1486Met)
c.4453T>A (p.Leu1485Met)
c.4333T>A (p.Leu1445Met)
c.4429T>A (p.Leu1477Met)
c.4375T>A (p.Leu1459Met)
c.4336T>A (p.Leu1446Met)
c.4285T>A (p.Leu1429Met)
c.1417T>A (p.Leu473Met)
18g.33744301T>CCA503770370ASXL3c.4456T>C (p.Leu1486=)
c.4453T>C (p.Leu1485=)
c.4333T>C (p.Leu1445=)
c.4429T>C (p.Leu1477=)
c.4375T>C (p.Leu1459=)
c.4336T>C (p.Leu1446=)
c.4285T>C (p.Leu1429=)
c.1417T>C (p.Leu473=)
18g.33744301T>GCA402190948ASXL3c.4456T>G (p.Leu1486Val)
c.4453T>G (p.Leu1485Val)
c.4333T>G (p.Leu1445Val)
c.4429T>G (p.Leu1477Val)
c.4375T>G (p.Leu1459Val)
c.4336T>G (p.Leu1446Val)
c.4285T>G (p.Leu1429Val)
c.1417T>G (p.Leu473Val)
18g.33744301_33744307delinsTTGTCTCCA2294858079ASXL3c.4456_4462delinsTTGTCTC (p.Leu1486=)
c.4453_4459delinsTTGTCTC (p.Leu1485=)
c.4333_4339delinsTTGTCTC (p.Leu1445=)
c.4429_4435delinsTTGTCTC (p.Leu1477=)
c.4375_4381delinsTTGTCTC (p.Leu1459=)
c.4336_4342delinsTTGTCTC (p.Leu1446=)
c.4285_4291delinsTTGTCTC (p.Leu1429=)
c.1417_1423delinsTTGTCTC (p.Leu473=)
18g.33744302T>ACA402190956ASXL3c.4457T>A (p.Leu1486Ter)
c.4454T>A (p.Leu1485Ter)
c.4334T>A (p.Leu1445Ter)
c.4430T>A (p.Leu1477Ter)
c.4376T>A (p.Leu1459Ter)
c.4337T>A (p.Leu1446Ter)
c.4286T>A (p.Leu1429Ter)
c.1418T>A (p.Leu473Ter)
18g.33744302T>CCA402190953ASXL3c.4457T>C (p.Leu1486Ser)
c.4454T>C (p.Leu1485Ser)
c.4334T>C (p.Leu1445Ser)
c.4430T>C (p.Leu1477Ser)
c.4376T>C (p.Leu1459Ser)
c.4337T>C (p.Leu1446Ser)
c.4286T>C (p.Leu1429Ser)
c.1418T>C (p.Leu473Ser)
18g.33744302T>GCA402190951ASXL3c.4457T>G (p.Leu1486Trp)
c.4454T>G (p.Leu1485Trp)
c.4334T>G (p.Leu1445Trp)
c.4430T>G (p.Leu1477Trp)
c.4376T>G (p.Leu1459Trp)
c.4337T>G (p.Leu1446Trp)
c.4286T>G (p.Leu1429Trp)
c.1418T>G (p.Leu473Trp)
 gnomAD v4
18g.33744304_33744309delCA2294858080ASXL3c.4459_4464del (p.Ser1487_Leu1488del)
c.4456_4461del (p.Ser1486_Leu1487del)
c.4336_4341del (p.Ser1446_Leu1447del)
c.4432_4437del (p.Ser1478_Leu1479del)
c.4378_4383del (p.Ser1460_Leu1461del)
c.4339_4344del (p.Ser1447_Leu1448del)
c.4288_4293del (p.Ser1430_Leu1431del)
c.1420_1425del (p.Ser474_Leu475del)
 ClinVar dbSNP
18g.33744303G>ACA503770375ASXL3c.4458G>A (p.Leu1486=)
c.4455G>A (p.Leu1485=)
c.4335G>A (p.Leu1445=)
c.4431G>A (p.Leu1477=)
c.4377G>A (p.Leu1459=)
c.4338G>A (p.Leu1446=)
c.4287G>A (p.Leu1429=)
c.1419G>A (p.Leu473=)
18g.33744303G>CCA402190960ASXL3c.4458G>C (p.Leu1486Phe)
c.4455G>C (p.Leu1485Phe)
c.4335G>C (p.Leu1445Phe)
c.4431G>C (p.Leu1477Phe)
c.4377G>C (p.Leu1459Phe)
c.4338G>C (p.Leu1446Phe)
c.4287G>C (p.Leu1429Phe)
c.1419G>C (p.Leu473Phe)
18g.33744303G>TCA402190958ASXL3c.4458G>T (p.Leu1486Phe)
c.4455G>T (p.Leu1485Phe)
c.4335G>T (p.Leu1445Phe)
c.4431G>T (p.Leu1477Phe)
c.4377G>T (p.Leu1459Phe)
c.4338G>T (p.Leu1446Phe)
c.4287G>T (p.Leu1429Phe)
c.1419G>T (p.Leu473Phe)
18g.33744304T>ACA402190963ASXL3c.4459T>A (p.Ser1487Thr)
c.4456T>A (p.Ser1486Thr)
c.4336T>A (p.Ser1446Thr)
c.4432T>A (p.Ser1478Thr)
c.4378T>A (p.Ser1460Thr)
c.4339T>A (p.Ser1447Thr)
c.4288T>A (p.Ser1430Thr)
c.1420T>A (p.Ser474Thr)
18g.33744304T>CCA8934264ASXL3c.4459T>C (p.Ser1487Pro)
c.4456T>C (p.Ser1486Pro)
c.4336T>C (p.Ser1446Pro)
c.4432T>C (p.Ser1478Pro)
c.4378T>C (p.Ser1460Pro)
c.4339T>C (p.Ser1447Pro)
c.4288T>C (p.Ser1430Pro)
c.1420T>C (p.Ser474Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744304T>GCA402190966ASXL3c.4459T>G (p.Ser1487Ala)
c.4456T>G (p.Ser1486Ala)
c.4336T>G (p.Ser1446Ala)
c.4432T>G (p.Ser1478Ala)
c.4378T>G (p.Ser1460Ala)
c.4339T>G (p.Ser1447Ala)
c.4288T>G (p.Ser1430Ala)
c.1420T>G (p.Ser474Ala)
18g.33744304T=CA2294858081ASXL3c.4459T= (p.Ser1487=)
c.4456T= (p.Ser1486=)
c.4336T= (p.Ser1446=)
c.4432T= (p.Ser1478=)
c.4378T= (p.Ser1460=)
c.4339T= (p.Ser1447=)
c.4288T= (p.Ser1430=)
c.1420T= (p.Ser474=)
18g.33744305C>ACA8934265ASXL3c.4460C>A (p.Ser1487Tyr)
c.4457C>A (p.Ser1486Tyr)
c.4337C>A (p.Ser1446Tyr)
c.4433C>A (p.Ser1478Tyr)
c.4379C>A (p.Ser1460Tyr)
c.4340C>A (p.Ser1447Tyr)
c.4289C>A (p.Ser1430Tyr)
c.1421C>A (p.Ser474Tyr)
 dbSNP ExAC gnomAD v2
18g.33744305C=CA2294858082ASXL3c.4460C= (p.Ser1487=)
c.4457C= (p.Ser1486=)
c.4337C= (p.Ser1446=)
c.4433C= (p.Ser1478=)
c.4379C= (p.Ser1460=)
c.4340C= (p.Ser1447=)
c.4289C= (p.Ser1430=)
c.1421C= (p.Ser474=)
18g.33744305C>GCA402190972ASXL3c.4460C>G (p.Ser1487Cys)
c.4457C>G (p.Ser1486Cys)
c.4337C>G (p.Ser1446Cys)
c.4433C>G (p.Ser1478Cys)
c.4379C>G (p.Ser1460Cys)
c.4340C>G (p.Ser1447Cys)
c.4289C>G (p.Ser1430Cys)
c.1421C>G (p.Ser474Cys)
18g.33744305C>TCA402190974ASXL3c.4460C>T (p.Ser1487Phe)
c.4457C>T (p.Ser1486Phe)
c.4337C>T (p.Ser1446Phe)
c.4433C>T (p.Ser1478Phe)
c.4379C>T (p.Ser1460Phe)
c.4340C>T (p.Ser1447Phe)
c.4289C>T (p.Ser1430Phe)
c.1421C>T (p.Ser474Phe)
18g.33744306T>ACA503770383ASXL3c.4461T>A (p.Ser1487=)
c.4458T>A (p.Ser1486=)
c.4338T>A (p.Ser1446=)
c.4434T>A (p.Ser1478=)
c.4380T>A (p.Ser1460=)
c.4341T>A (p.Ser1447=)
c.4290T>A (p.Ser1430=)
c.1422T>A (p.Ser474=)
18g.33744306T>CCA503770380ASXL3c.4461T>C (p.Ser1487=)
c.4458T>C (p.Ser1486=)
c.4338T>C (p.Ser1446=)
c.4434T>C (p.Ser1478=)
c.4380T>C (p.Ser1460=)
c.4341T>C (p.Ser1447=)
c.4290T>C (p.Ser1430=)
c.1422T>C (p.Ser474=)
18g.33744306T>GCA503770382ASXL3c.4461T>G (p.Ser1487=)
c.4458T>G (p.Ser1486=)
c.4338T>G (p.Ser1446=)
c.4434T>G (p.Ser1478=)
c.4380T>G (p.Ser1460=)
c.4341T>G (p.Ser1447=)
c.4290T>G (p.Ser1430=)
c.1422T>G (p.Ser474=)
18g.33744306dupCA2739291110ASXL3c.4461dup (p.Leu1488SerfsTer6)
c.4458dup (p.Leu1487SerfsTer6)
c.4338dup (p.Leu1447SerfsTer6)
c.4434dup (p.Leu1479SerfsTer6)
c.4380dup (p.Leu1461SerfsTer6)
c.4341dup (p.Leu1448SerfsTer6)
c.4290dup (p.Leu1431SerfsTer6)
c.1422dup (p.Leu475SerfsTer6)
18g.33744306_33744310delinsTCTGACA2294858083ASXL3c.4461_4465delinsTCTGA (p.Ser1487=)
c.4458_4462delinsTCTGA (p.Ser1486=)
c.4338_4342delinsTCTGA (p.Ser1446=)
c.4434_4438delinsTCTGA (p.Ser1478=)
c.4380_4384delinsTCTGA (p.Ser1460=)
c.4341_4345delinsTCTGA (p.Ser1447=)
c.4290_4294delinsTCTGA (p.Ser1430=)
c.1422_1426delinsTCTGA (p.Ser474=)
18g.33744307C>ACA402190979ASXL3c.4462C>A (p.Leu1488Met)
c.4459C>A (p.Leu1487Met)
c.4339C>A (p.Leu1447Met)
c.4435C>A (p.Leu1479Met)
c.4381C>A (p.Leu1461Met)
c.4342C>A (p.Leu1448Met)
c.4291C>A (p.Leu1431Met)
c.1423C>A (p.Leu475Met)
18g.33744307C>GCA402190977ASXL3c.4462C>G (p.Leu1488Val)
c.4459C>G (p.Leu1487Val)
c.4339C>G (p.Leu1447Val)
c.4435C>G (p.Leu1479Val)
c.4381C>G (p.Leu1461Val)
c.4342C>G (p.Leu1448Val)
c.4291C>G (p.Leu1431Val)
c.1423C>G (p.Leu475Val)
18g.33744307C>TCA503770386ASXL3c.4462C>T (p.Leu1488=)
c.4459C>T (p.Leu1487=)
c.4339C>T (p.Leu1447=)
c.4435C>T (p.Leu1479=)
c.4381C>T (p.Leu1461=)
c.4342C>T (p.Leu1448=)
c.4291C>T (p.Leu1431=)
c.1423C>T (p.Leu475=)
18g.33744310_33744313delCA915952509ASXL3c.4465_4468del (p.Thr1489SerfsTer17)
c.4462_4465del (p.Thr1488SerfsTer17)
c.4342_4345del (p.Thr1448SerfsTer17)
c.4438_4441del (p.Thr1480SerfsTer17)
c.4384_4387del (p.Thr1462SerfsTer17)
c.4345_4348del (p.Thr1449SerfsTer17)
c.4294_4297del (p.Thr1432SerfsTer17)
c.1426_1429del (p.Thr476SerfsTer17)
 ClinVar dbSNP
18g.33744308T>ACA402190983ASXL3c.4463T>A (p.Leu1488Gln)
c.4460T>A (p.Leu1487Gln)
c.4340T>A (p.Leu1447Gln)
c.4436T>A (p.Leu1479Gln)
c.4382T>A (p.Leu1461Gln)
c.4343T>A (p.Leu1448Gln)
c.4292T>A (p.Leu1431Gln)
c.1424T>A (p.Leu475Gln)
18g.33744308T>CCA402190985ASXL3c.4463T>C (p.Leu1488Pro)
c.4460T>C (p.Leu1487Pro)
c.4340T>C (p.Leu1447Pro)
c.4436T>C (p.Leu1479Pro)
c.4382T>C (p.Leu1461Pro)
c.4343T>C (p.Leu1448Pro)
c.4292T>C (p.Leu1431Pro)
c.1424T>C (p.Leu475Pro)
18g.33744308T>GCA402190986ASXL3c.4463T>G (p.Leu1488Arg)
c.4460T>G (p.Leu1487Arg)
c.4340T>G (p.Leu1447Arg)
c.4436T>G (p.Leu1479Arg)
c.4382T>G (p.Leu1461Arg)
c.4343T>G (p.Leu1448Arg)
c.4292T>G (p.Leu1431Arg)
c.1424T>G (p.Leu475Arg)
 gnomAD v4
18g.33744308dupCA658791385ASXL3c.4463dup (p.Thr1489AspfsTer5)
c.4460dup (p.Thr1488AspfsTer5)
c.4340dup (p.Thr1448AspfsTer5)
c.4436dup (p.Thr1480AspfsTer5)
c.4382dup (p.Thr1462AspfsTer5)
c.4343dup (p.Thr1449AspfsTer5)
c.4292dup (p.Thr1432AspfsTer5)
c.1424dup (p.Thr476AspfsTer5)

Number of alleles fetched