Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.25742286_25742294delinsATACCTGGCCA1239490390ASXL2c.4040_4048delinsGCCAGGTAT (p.Ser1347=)
c.4043_4051delinsGCCAGGTAT (p.Ser1348=)
c.3959_3967delinsGCCAGGTAT (p.Ser1320=)
c.2492_2500delinsGCCAGGTAT (p.Ser831=)
c.3677_3685delinsGCCAGGTAT (p.Ser1226=)
c.3263_3271delinsGCCAGGTAT (p.Ser1088=)
c.3869_3877delinsGCCAGGTAT (p.Ser1290=)
c.4223_4231delinsGCCAGGTAT (p.Ser1408=)
2g.25742294_25742301delCA1557371ASXL2c.4040_4047del (p.Ser1347IlefsTer2)
c.4043_4050del (p.Ser1348IlefsTer2)
c.3959_3966del (p.Ser1320IlefsTer2)
c.2492_2499del (p.Ser831IlefsTer2)
c.3677_3684del (p.Ser1226IlefsTer2)
c.3263_3270del (p.Ser1088IlefsTer2)
c.3869_3876del (p.Ser1290IlefsTer2)
c.4223_4230del (p.Ser1408IlefsTer2)
 dbSNP ExAC
2g.25742291T>ACA346074381ASXL2c.4043A>T (p.Gln1348Leu)
c.4046A>T (p.Gln1349Leu)
c.3962A>T (p.Gln1321Leu)
c.2495A>T (p.Gln832Leu)
c.3680A>T (p.Gln1227Leu)
c.3266A>T (p.Gln1089Leu)
c.3872A>T (p.Gln1291Leu)
c.4226A>T (p.Gln1409Leu)
2g.25742291T>CCA1557374ASXL2c.4043A>G (p.Gln1348Arg)
c.4046A>G (p.Gln1349Arg)
c.3962A>G (p.Gln1321Arg)
c.2495A>G (p.Gln832Arg)
c.3680A>G (p.Gln1227Arg)
c.3266A>G (p.Gln1089Arg)
c.3872A>G (p.Gln1291Arg)
c.4226A>G (p.Gln1409Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742291T>GCA346074384ASXL2c.4043A>C (p.Gln1348Pro)
c.4046A>C (p.Gln1349Pro)
c.3962A>C (p.Gln1321Pro)
c.2495A>C (p.Gln832Pro)
c.3680A>C (p.Gln1227Pro)
c.3266A>C (p.Gln1089Pro)
c.3872A>C (p.Gln1291Pro)
c.4226A>C (p.Gln1409Pro)
2g.25742291T=CA1239490393ASXL2c.4043A= (p.Gln1348=)
c.4046A= (p.Gln1349=)
c.3962A= (p.Gln1321=)
c.2495A= (p.Gln832=)
c.3680A= (p.Gln1227=)
c.3266A= (p.Gln1089=)
c.3872A= (p.Gln1291=)
c.4226A= (p.Gln1409=)
2g.25742292G>ACA346074386ASXL2c.4042C>T (p.Gln1348Ter)
c.4045C>T (p.Gln1349Ter)
c.3961C>T (p.Gln1321Ter)
c.2494C>T (p.Gln832Ter)
c.3679C>T (p.Gln1227Ter)
c.3265C>T (p.Gln1089Ter)
c.3871C>T (p.Gln1291Ter)
c.4225C>T (p.Gln1409Ter)
2g.25742292G>CCA346074389ASXL2c.4042C>G (p.Gln1348Glu)
c.4045C>G (p.Gln1349Glu)
c.3961C>G (p.Gln1321Glu)
c.2494C>G (p.Gln832Glu)
c.3679C>G (p.Gln1227Glu)
c.3265C>G (p.Gln1089Glu)
c.3871C>G (p.Gln1291Glu)
c.4225C>G (p.Gln1409Glu)
2g.25742292G>TCA346074387ASXL2c.4042C>A (p.Gln1348Lys)
c.4045C>A (p.Gln1349Lys)
c.3961C>A (p.Gln1321Lys)
c.2494C>A (p.Gln832Lys)
c.3679C>A (p.Gln1227Lys)
c.3265C>A (p.Gln1089Lys)
c.3871C>A (p.Gln1291Lys)
c.4225C>A (p.Gln1409Lys)
2g.25742293G>ACA1557375ASXL2c.4041C>T (p.Ser1347=)
c.4044C>T (p.Ser1348=)
c.3960C>T (p.Ser1320=)
c.2493C>T (p.Ser831=)
c.3678C>T (p.Ser1226=)
c.3264C>T (p.Ser1088=)
c.3870C>T (p.Ser1290=)
c.4224C>T (p.Ser1408=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742293G>CCA346074395ASXL2c.4041C>G (p.Ser1347Arg)
c.4044C>G (p.Ser1348Arg)
c.3960C>G (p.Ser1320Arg)
c.2493C>G (p.Ser831Arg)
c.3678C>G (p.Ser1226Arg)
c.3264C>G (p.Ser1088Arg)
c.3870C>G (p.Ser1290Arg)
c.4224C>G (p.Ser1408Arg)
2g.25742293G=CA1239490394ASXL2c.4041C= (p.Ser1347=)
c.4044C= (p.Ser1348=)
c.3960C= (p.Ser1320=)
c.2493C= (p.Ser831=)
c.3678C= (p.Ser1226=)
c.3264C= (p.Ser1088=)
c.3870C= (p.Ser1290=)
c.4224C= (p.Ser1408=)
2g.25742293G>TCA346074393ASXL2c.4041C>A (p.Ser1347Arg)
c.4044C>A (p.Ser1348Arg)
c.3960C>A (p.Ser1320Arg)
c.2493C>A (p.Ser831Arg)
c.3678C>A (p.Ser1226Arg)
c.3264C>A (p.Ser1088Arg)
c.3870C>A (p.Ser1290Arg)
c.4224C>A (p.Ser1408Arg)
2g.25742294C>ACA346074397ASXL2c.4040G>T (p.Ser1347Ile)
c.4043G>T (p.Ser1348Ile)
c.3959G>T (p.Ser1320Ile)
c.2492G>T (p.Ser831Ile)
c.3677G>T (p.Ser1226Ile)
c.3263G>T (p.Ser1088Ile)
c.3869G>T (p.Ser1290Ile)
c.4223G>T (p.Ser1408Ile)
2g.25742294C=CA1239490395ASXL2c.4040G= (p.Ser1347=)
c.4043G= (p.Ser1348=)
c.3959G= (p.Ser1320=)
c.2492G= (p.Ser831=)
c.3677G= (p.Ser1226=)
c.3263G= (p.Ser1088=)
c.3869G= (p.Ser1290=)
c.4223G= (p.Ser1408=)
2g.25742294C>GCA346074402ASXL2c.4040G>C (p.Ser1347Thr)
c.4043G>C (p.Ser1348Thr)
c.3959G>C (p.Ser1320Thr)
c.2492G>C (p.Ser831Thr)
c.3677G>C (p.Ser1226Thr)
c.3263G>C (p.Ser1088Thr)
c.3869G>C (p.Ser1290Thr)
c.4223G>C (p.Ser1408Thr)
2g.25742294C>TCA346074400ASXL2c.4040G>A (p.Ser1347Asn)
c.4043G>A (p.Ser1348Asn)
c.3959G>A (p.Ser1320Asn)
c.2492G>A (p.Ser831Asn)
c.3677G>A (p.Ser1226Asn)
c.3263G>A (p.Ser1088Asn)
c.3869G>A (p.Ser1290Asn)
c.4223G>A (p.Ser1408Asn)
 dbSNP
2g.25742295T>ACA346074404ASXL2c.4039A>T (p.Ser1347Cys)
c.4042A>T (p.Ser1348Cys)
c.3958A>T (p.Ser1320Cys)
c.2491A>T (p.Ser831Cys)
c.3676A>T (p.Ser1226Cys)
c.3262A>T (p.Ser1088Cys)
c.3868A>T (p.Ser1290Cys)
c.4222A>T (p.Ser1408Cys)
2g.25742295T>CCA346074409ASXL2c.4039A>G (p.Ser1347Gly)
c.4042A>G (p.Ser1348Gly)
c.3958A>G (p.Ser1320Gly)
c.2491A>G (p.Ser831Gly)
c.3676A>G (p.Ser1226Gly)
c.3262A>G (p.Ser1088Gly)
c.3868A>G (p.Ser1290Gly)
c.4222A>G (p.Ser1408Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.25742295T>GCA346074407ASXL2c.4039A>C (p.Ser1347Arg)
c.4042A>C (p.Ser1348Arg)
c.3958A>C (p.Ser1320Arg)
c.2491A>C (p.Ser831Arg)
c.3676A>C (p.Ser1226Arg)
c.3262A>C (p.Ser1088Arg)
c.3868A>C (p.Ser1290Arg)
c.4222A>C (p.Ser1408Arg)
2g.25742295T=CA1239490396ASXL2c.4039A= (p.Ser1347=)
c.4042A= (p.Ser1348=)
c.3958A= (p.Ser1320=)
c.2491A= (p.Ser831=)
c.3676A= (p.Ser1226=)
c.3262A= (p.Ser1088=)
c.3868A= (p.Ser1290=)
c.4222A= (p.Ser1408=)
2g.25742296A>CCA425354477ASXL2c.4038T>G (p.Gly1346=)
c.4041T>G (p.Gly1347=)
c.3957T>G (p.Gly1319=)
c.2490T>G (p.Gly830=)
c.3675T>G (p.Gly1225=)
c.3261T>G (p.Gly1087=)
c.3867T>G (p.Gly1289=)
c.4221T>G (p.Gly1407=)
2g.25742296A>GCA425354478ASXL2c.4038T>C (p.Gly1346=)
c.4041T>C (p.Gly1347=)
c.3957T>C (p.Gly1319=)
c.2490T>C (p.Gly830=)
c.3675T>C (p.Gly1225=)
c.3261T>C (p.Gly1087=)
c.3867T>C (p.Gly1289=)
c.4221T>C (p.Gly1407=)
2g.25742296A>TCA425354479ASXL2c.4038T>A (p.Gly1346=)
c.4041T>A (p.Gly1347=)
c.3957T>A (p.Gly1319=)
c.2490T>A (p.Gly830=)
c.3675T>A (p.Gly1225=)
c.3261T>A (p.Gly1087=)
c.3867T>A (p.Gly1289=)
c.4221T>A (p.Gly1407=)
2g.25742297C>ACA346074412ASXL2c.4037G>T (p.Gly1346Val)
c.4040G>T (p.Gly1347Val)
c.3956G>T (p.Gly1319Val)
c.2489G>T (p.Gly830Val)
c.3674G>T (p.Gly1225Val)
c.3260G>T (p.Gly1087Val)
c.3866G>T (p.Gly1289Val)
c.4220G>T (p.Gly1407Val)
2g.25742297C>GCA346074416ASXL2c.4037G>C (p.Gly1346Ala)
c.4040G>C (p.Gly1347Ala)
c.3956G>C (p.Gly1319Ala)
c.2489G>C (p.Gly830Ala)
c.3674G>C (p.Gly1225Ala)
c.3260G>C (p.Gly1087Ala)
c.3866G>C (p.Gly1289Ala)
c.4220G>C (p.Gly1407Ala)
2g.25742297C>TCA346074414ASXL2c.4037G>A (p.Gly1346Asp)
c.4040G>A (p.Gly1347Asp)
c.3956G>A (p.Gly1319Asp)
c.2489G>A (p.Gly830Asp)
c.3674G>A (p.Gly1225Asp)
c.3260G>A (p.Gly1087Asp)
c.3866G>A (p.Gly1289Asp)
c.4220G>A (p.Gly1407Asp)
 gnomAD v4
2g.25742297_25742298insAGTCAGGCATCCCA2550423779ASXL2c.4037_4038insGATGCCTGACTG (p.Gly1346_Ser1347insMetProAspCys)
c.4040_4041insGATGCCTGACTG (p.Gly1347_Ser1348insMetProAspCys)
c.3956_3957insGATGCCTGACTG (p.Gly1319_Ser1320insMetProAspCys)
c.2489_2490insGATGCCTGACTG (p.Gly830_Ser831insMetProAspCys)
c.3674_3675insGATGCCTGACTG (p.Gly1225_Ser1226insMetProAspCys)
c.3260_3261insGATGCCTGACTG (p.Gly1087_Ser1088insMetProAspCys)
c.3866_3867insGATGCCTGACTG (p.Gly1289_Ser1290insMetProAspCys)
c.4220_4221insGATGCCTGACTG (p.Gly1407_Ser1408insMetProAspCys)
2g.25742298C>ACA346074418ASXL2c.4036G>T (p.Gly1346Cys)
c.4039G>T (p.Gly1347Cys)
c.3955G>T (p.Gly1319Cys)
c.2488G>T (p.Gly830Cys)
c.3673G>T (p.Gly1225Cys)
c.3259G>T (p.Gly1087Cys)
c.3865G>T (p.Gly1289Cys)
c.4219G>T (p.Gly1407Cys)
2g.25742298C=CA1239490397ASXL2c.4036G= (p.Gly1346=)
c.4039G= (p.Gly1347=)
c.3955G= (p.Gly1319=)
c.2488G= (p.Gly830=)
c.3673G= (p.Gly1225=)
c.3259G= (p.Gly1087=)
c.3865G= (p.Gly1289=)
c.4219G= (p.Gly1407=)
2g.25742298C>GCA346074422ASXL2c.4036G>C (p.Gly1346Arg)
c.4039G>C (p.Gly1347Arg)
c.3955G>C (p.Gly1319Arg)
c.2488G>C (p.Gly830Arg)
c.3673G>C (p.Gly1225Arg)
c.3259G>C (p.Gly1087Arg)
c.3865G>C (p.Gly1289Arg)
c.4219G>C (p.Gly1407Arg)
2g.25742298C>TCA346074420ASXL2c.4036G>A (p.Gly1346Ser)
c.4039G>A (p.Gly1347Ser)
c.3955G>A (p.Gly1319Ser)
c.2488G>A (p.Gly830Ser)
c.3673G>A (p.Gly1225Ser)
c.3259G>A (p.Gly1087Ser)
c.3865G>A (p.Gly1289Ser)
c.4219G>A (p.Gly1407Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.25742299T>ACA425354488ASXL2c.4035A>T (p.Pro1345=)
c.4038A>T (p.Pro1346=)
c.3954A>T (p.Pro1318=)
c.2487A>T (p.Pro829=)
c.3672A>T (p.Pro1224=)
c.3258A>T (p.Pro1086=)
c.3864A>T (p.Pro1288=)
c.4218A>T (p.Pro1406=)
2g.25742299T>CCA425354491ASXL2c.4035A>G (p.Pro1345=)
c.4038A>G (p.Pro1346=)
c.3954A>G (p.Pro1318=)
c.2487A>G (p.Pro829=)
c.3672A>G (p.Pro1224=)
c.3258A>G (p.Pro1086=)
c.3864A>G (p.Pro1288=)
c.4218A>G (p.Pro1406=)
 gnomAD v4
2g.25742299T>GCA425354489ASXL2c.4035A>C (p.Pro1345=)
c.4038A>C (p.Pro1346=)
c.3954A>C (p.Pro1318=)
c.2487A>C (p.Pro829=)
c.3672A>C (p.Pro1224=)
c.3258A>C (p.Pro1086=)
c.3864A>C (p.Pro1288=)
c.4218A>C (p.Pro1406=)
2g.25742300G>ACA346074426ASXL2c.4034C>T (p.Pro1345Leu)
c.4037C>T (p.Pro1346Leu)
c.3953C>T (p.Pro1318Leu)
c.2486C>T (p.Pro829Leu)
c.3671C>T (p.Pro1224Leu)
c.3257C>T (p.Pro1086Leu)
c.3863C>T (p.Pro1288Leu)
c.4217C>T (p.Pro1406Leu)
 dbSNP
2g.25742300G>CCA346074432ASXL2c.4034C>G (p.Pro1345Arg)
c.4037C>G (p.Pro1346Arg)
c.3953C>G (p.Pro1318Arg)
c.2486C>G (p.Pro829Arg)
c.3671C>G (p.Pro1224Arg)
c.3257C>G (p.Pro1086Arg)
c.3863C>G (p.Pro1288Arg)
c.4217C>G (p.Pro1406Arg)
2g.25742300G=CA1239490398ASXL2c.4034C= (p.Pro1345=)
c.4037C= (p.Pro1346=)
c.3953C= (p.Pro1318=)
c.2486C= (p.Pro829=)
c.3671C= (p.Pro1224=)
c.3257C= (p.Pro1086=)
c.3863C= (p.Pro1288=)
c.4217C= (p.Pro1406=)
2g.25742300G>TCA346074429ASXL2c.4034C>A (p.Pro1345Gln)
c.4037C>A (p.Pro1346Gln)
c.3953C>A (p.Pro1318Gln)
c.2486C>A (p.Pro829Gln)
c.3671C>A (p.Pro1224Gln)
c.3257C>A (p.Pro1086Gln)
c.3863C>A (p.Pro1288Gln)
c.4217C>A (p.Pro1406Gln)
2g.25742301G>ACA346074436ASXL2c.4033C>T (p.Pro1345Ser)
c.4036C>T (p.Pro1346Ser)
c.3952C>T (p.Pro1318Ser)
c.2485C>T (p.Pro829Ser)
c.3670C>T (p.Pro1224Ser)
c.3256C>T (p.Pro1086Ser)
c.3862C>T (p.Pro1288Ser)
c.4216C>T (p.Pro1406Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742301G>CCA346074442ASXL2c.4033C>G (p.Pro1345Ala)
c.4036C>G (p.Pro1346Ala)
c.3952C>G (p.Pro1318Ala)
c.2485C>G (p.Pro829Ala)
c.3670C>G (p.Pro1224Ala)
c.3256C>G (p.Pro1086Ala)
c.3862C>G (p.Pro1288Ala)
c.4216C>G (p.Pro1406Ala)
2g.25742301G=CA1239490399ASXL2c.4033C= (p.Pro1345=)
c.4036C= (p.Pro1346=)
c.3952C= (p.Pro1318=)
c.2485C= (p.Pro829=)
c.3670C= (p.Pro1224=)
c.3256C= (p.Pro1086=)
c.3862C= (p.Pro1288=)
c.4216C= (p.Pro1406=)
2g.25742301G>TCA346074439ASXL2c.4033C>A (p.Pro1345Thr)
c.4036C>A (p.Pro1346Thr)
c.3952C>A (p.Pro1318Thr)
c.2485C>A (p.Pro829Thr)
c.3670C>A (p.Pro1224Thr)
c.3256C>A (p.Pro1086Thr)
c.3862C>A (p.Pro1288Thr)
c.4216C>A (p.Pro1406Thr)
2g.25742302T>ACA425354502ASXL2c.4032A>T (p.Val1344=)
c.4035A>T (p.Val1345=)
c.3951A>T (p.Val1317=)
c.2484A>T (p.Val828=)
c.3669A>T (p.Val1223=)
c.3255A>T (p.Val1085=)
c.3861A>T (p.Val1287=)
c.4215A>T (p.Val1405=)
2g.25742302T>CCA425354504ASXL2c.4032A>G (p.Val1344=)
c.4035A>G (p.Val1345=)
c.3951A>G (p.Val1317=)
c.2484A>G (p.Val828=)
c.3669A>G (p.Val1223=)
c.3255A>G (p.Val1085=)
c.3861A>G (p.Val1287=)
c.4215A>G (p.Val1405=)
2g.25742302T>GCA425354506ASXL2c.4032A>C (p.Val1344=)
c.4035A>C (p.Val1345=)
c.3951A>C (p.Val1317=)
c.2484A>C (p.Val828=)
c.3669A>C (p.Val1223=)
c.3255A>C (p.Val1085=)
c.3861A>C (p.Val1287=)
c.4215A>C (p.Val1405=)
2g.25742303A>CCA346074446ASXL2c.4031T>G (p.Val1344Gly)
c.4034T>G (p.Val1345Gly)
c.3950T>G (p.Val1317Gly)
c.2483T>G (p.Val828Gly)
c.3668T>G (p.Val1223Gly)
c.3254T>G (p.Val1085Gly)
c.3860T>G (p.Val1287Gly)
c.4214T>G (p.Val1405Gly)
2g.25742303A>GCA346074449ASXL2c.4031T>C (p.Val1344Ala)
c.4034T>C (p.Val1345Ala)
c.3950T>C (p.Val1317Ala)
c.2483T>C (p.Val828Ala)
c.3668T>C (p.Val1223Ala)
c.3254T>C (p.Val1085Ala)
c.3860T>C (p.Val1287Ala)
c.4214T>C (p.Val1405Ala)
2g.25742303A>TCA346074452ASXL2c.4031T>A (p.Val1344Glu)
c.4034T>A (p.Val1345Glu)
c.3950T>A (p.Val1317Glu)
c.2483T>A (p.Val828Glu)
c.3668T>A (p.Val1223Glu)
c.3254T>A (p.Val1085Glu)
c.3860T>A (p.Val1287Glu)
c.4214T>A (p.Val1405Glu)
2g.25742304C>ACA346074457ASXL2c.4030G>T (p.Val1344Leu)
c.4033G>T (p.Val1345Leu)
c.3949G>T (p.Val1317Leu)
c.2482G>T (p.Val828Leu)
c.3667G>T (p.Val1223Leu)
c.3253G>T (p.Val1085Leu)
c.3859G>T (p.Val1287Leu)
c.4213G>T (p.Val1405Leu)
2g.25742304C>GCA346074459ASXL2c.4030G>C (p.Val1344Leu)
c.4033G>C (p.Val1345Leu)
c.3949G>C (p.Val1317Leu)
c.2482G>C (p.Val828Leu)
c.3667G>C (p.Val1223Leu)
c.3253G>C (p.Val1085Leu)
c.3859G>C (p.Val1287Leu)
c.4213G>C (p.Val1405Leu)
 gnomAD v4
2g.25742304C>TCA346074461ASXL2c.4030G>A (p.Val1344Ile)
c.4033G>A (p.Val1345Ile)
c.3949G>A (p.Val1317Ile)
c.2482G>A (p.Val828Ile)
c.3667G>A (p.Val1223Ile)
c.3253G>A (p.Val1085Ile)
c.3859G>A (p.Val1287Ile)
c.4213G>A (p.Val1405Ile)
 COSMIC COSMIC
2g.25742305A>CCA425354510ASXL2c.4029T>G (p.Ala1343=)
c.4032T>G (p.Ala1344=)
c.3948T>G (p.Ala1316=)
c.2481T>G (p.Ala827=)
c.3666T>G (p.Ala1222=)
c.3252T>G (p.Ala1084=)
c.3858T>G (p.Ala1286=)
c.4212T>G (p.Ala1404=)
2g.25742305A>GCA425354513ASXL2c.4029T>C (p.Ala1343=)
c.4032T>C (p.Ala1344=)
c.3948T>C (p.Ala1316=)
c.2481T>C (p.Ala827=)
c.3666T>C (p.Ala1222=)
c.3252T>C (p.Ala1084=)
c.3858T>C (p.Ala1286=)
c.4212T>C (p.Ala1404=)
 gnomAD v4
2g.25742305A>TCA425354515ASXL2c.4029T>A (p.Ala1343=)
c.4032T>A (p.Ala1344=)
c.3948T>A (p.Ala1316=)
c.2481T>A (p.Ala827=)
c.3666T>A (p.Ala1222=)
c.3252T>A (p.Ala1084=)
c.3858T>A (p.Ala1286=)
c.4212T>A (p.Ala1404=)
2g.25742306G>ACA346074467ASXL2c.4028C>T (p.Ala1343Val)
c.4031C>T (p.Ala1344Val)
c.3947C>T (p.Ala1316Val)
c.2480C>T (p.Ala827Val)
c.3665C>T (p.Ala1222Val)
c.3251C>T (p.Ala1084Val)
c.3857C>T (p.Ala1286Val)
c.4211C>T (p.Ala1404Val)
 gnomAD v4
2g.25742306G>CCA346074469ASXL2c.4028C>G (p.Ala1343Gly)
c.4031C>G (p.Ala1344Gly)
c.3947C>G (p.Ala1316Gly)
c.2480C>G (p.Ala827Gly)
c.3665C>G (p.Ala1222Gly)
c.3251C>G (p.Ala1084Gly)
c.3857C>G (p.Ala1286Gly)
c.4211C>G (p.Ala1404Gly)
 gnomAD v4
2g.25742306G>TCA346074472ASXL2c.4028C>A (p.Ala1343Asp)
c.4031C>A (p.Ala1344Asp)
c.3947C>A (p.Ala1316Asp)
c.2480C>A (p.Ala827Asp)
c.3665C>A (p.Ala1222Asp)
c.3251C>A (p.Ala1084Asp)
c.3857C>A (p.Ala1286Asp)
c.4211C>A (p.Ala1404Asp)
2g.25742307C>ACA346074481ASXL2c.4027G>T (p.Ala1343Ser)
c.4030G>T (p.Ala1344Ser)
c.3946G>T (p.Ala1316Ser)
c.2479G>T (p.Ala827Ser)
c.3664G>T (p.Ala1222Ser)
c.3250G>T (p.Ala1084Ser)
c.3856G>T (p.Ala1286Ser)
c.4210G>T (p.Ala1404Ser)
2g.25742307C>GCA346074478ASXL2c.4027G>C (p.Ala1343Pro)
c.4030G>C (p.Ala1344Pro)
c.3946G>C (p.Ala1316Pro)
c.2479G>C (p.Ala827Pro)
c.3664G>C (p.Ala1222Pro)
c.3250G>C (p.Ala1084Pro)
c.3856G>C (p.Ala1286Pro)
c.4210G>C (p.Ala1404Pro)
2g.25742307C>TCA346074475ASXL2c.4027G>A (p.Ala1343Thr)
c.4030G>A (p.Ala1344Thr)
c.3946G>A (p.Ala1316Thr)
c.2479G>A (p.Ala827Thr)
c.3664G>A (p.Ala1222Thr)
c.3250G>A (p.Ala1084Thr)
c.3856G>A (p.Ala1286Thr)
c.4210G>A (p.Ala1404Thr)
 ClinVar COSMIC COSMIC
2g.25742307_25742309delinsCAGCA1239490400ASXL2c.4025_4027delinsCTG (p.Ser1342=)
c.4028_4030delinsCTG (p.Ser1343=)
c.3944_3946delinsCTG (p.Ser1315=)
c.2477_2479delinsCTG (p.Ser826=)
c.3662_3664delinsCTG (p.Ser1221=)
c.3248_3250delinsCTG (p.Ser1083=)
c.3854_3856delinsCTG (p.Ser1285=)
c.4208_4210delinsCTG (p.Ser1403=)
2g.25742308A>CCA425354523ASXL2c.4026T>G (p.Ser1342=)
c.4029T>G (p.Ser1343=)
c.3945T>G (p.Ser1315=)
c.2478T>G (p.Ser826=)
c.3663T>G (p.Ser1221=)
c.3249T>G (p.Ser1083=)
c.3855T>G (p.Ser1285=)
c.4209T>G (p.Ser1403=)
2g.25742308A>GCA425354524ASXL2c.4026T>C (p.Ser1342=)
c.4029T>C (p.Ser1343=)
c.3945T>C (p.Ser1315=)
c.2478T>C (p.Ser826=)
c.3663T>C (p.Ser1221=)
c.3249T>C (p.Ser1083=)
c.3855T>C (p.Ser1285=)
c.4209T>C (p.Ser1403=)
 gnomAD v4
2g.25742308A>TCA425354526ASXL2c.4026T>A (p.Ser1342=)
c.4029T>A (p.Ser1343=)
c.3945T>A (p.Ser1315=)
c.2478T>A (p.Ser826=)
c.3663T>A (p.Ser1221=)
c.3249T>A (p.Ser1083=)
c.3855T>A (p.Ser1285=)
c.4209T>A (p.Ser1403=)
2g.25742310_25742311delCA1239490401ASXL2c.4025_4026del (p.Ser1342CysfsTer5)
c.4028_4029del (p.Ser1343CysfsTer5)
c.3944_3945del (p.Ser1315CysfsTer5)
c.2477_2478del (p.Ser826CysfsTer5)
c.3662_3663del (p.Ser1221CysfsTer5)
c.3248_3249del (p.Ser1083CysfsTer5)
c.3854_3855del (p.Ser1285CysfsTer5)
c.4208_4209del (p.Ser1403CysfsTer5)
 dbSNP
2g.25742309G>ACA346074483ASXL2c.4025C>T (p.Ser1342Phe)
c.4028C>T (p.Ser1343Phe)
c.3944C>T (p.Ser1315Phe)
c.2477C>T (p.Ser826Phe)
c.3662C>T (p.Ser1221Phe)
c.3248C>T (p.Ser1083Phe)
c.3854C>T (p.Ser1285Phe)
c.4208C>T (p.Ser1403Phe)
2g.25742309G>CCA346074488ASXL2c.4025C>G (p.Ser1342Cys)
c.4028C>G (p.Ser1343Cys)
c.3944C>G (p.Ser1315Cys)
c.2477C>G (p.Ser826Cys)
c.3662C>G (p.Ser1221Cys)
c.3248C>G (p.Ser1083Cys)
c.3854C>G (p.Ser1285Cys)
c.4208C>G (p.Ser1403Cys)
2g.25742309G>TCA346074491ASXL2c.4025C>A (p.Ser1342Tyr)
c.4028C>A (p.Ser1343Tyr)
c.3944C>A (p.Ser1315Tyr)
c.2477C>A (p.Ser826Tyr)
c.3662C>A (p.Ser1221Tyr)
c.3248C>A (p.Ser1083Tyr)
c.3854C>A (p.Ser1285Tyr)
c.4208C>A (p.Ser1403Tyr)
2g.25742310A=CA1239490402ASXL2c.4024T= (p.Ser1342=)
c.4027T= (p.Ser1343=)
c.3943T= (p.Ser1315=)
c.2476T= (p.Ser826=)
c.3661T= (p.Ser1221=)
c.3247T= (p.Ser1083=)
c.3853T= (p.Ser1285=)
c.4207T= (p.Ser1403=)
2g.25742310A>CCA346074497ASXL2c.4024T>G (p.Ser1342Ala)
c.4027T>G (p.Ser1343Ala)
c.3943T>G (p.Ser1315Ala)
c.2476T>G (p.Ser826Ala)
c.3661T>G (p.Ser1221Ala)
c.3247T>G (p.Ser1083Ala)
c.3853T>G (p.Ser1285Ala)
c.4207T>G (p.Ser1403Ala)
2g.25742310A>GCA346074499ASXL2c.4024T>C (p.Ser1342Pro)
c.4027T>C (p.Ser1343Pro)
c.3943T>C (p.Ser1315Pro)
c.2476T>C (p.Ser826Pro)
c.3661T>C (p.Ser1221Pro)
c.3247T>C (p.Ser1083Pro)
c.3853T>C (p.Ser1285Pro)
c.4207T>C (p.Ser1403Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.25742310A>TCA346074502ASXL2c.4024T>A (p.Ser1342Thr)
c.4027T>A (p.Ser1343Thr)
c.3943T>A (p.Ser1315Thr)
c.2476T>A (p.Ser826Thr)
c.3661T>A (p.Ser1221Thr)
c.3247T>A (p.Ser1083Thr)
c.3853T>A (p.Ser1285Thr)
c.4207T>A (p.Ser1403Thr)
2g.25742311G>ACA425354536ASXL2c.4023C>T (p.Asn1341=)
c.4026C>T (p.Asn1342=)
c.3942C>T (p.Asn1314=)
c.2475C>T (p.Asn825=)
c.3660C>T (p.Asn1220=)
c.3246C>T (p.Asn1082=)
c.3852C>T (p.Asn1284=)
c.4206C>T (p.Asn1402=)
 dbSNP gnomAD v2 gnomAD v4
2g.25742311G>CCA346074505ASXL2c.4023C>G (p.Asn1341Lys)
c.4026C>G (p.Asn1342Lys)
c.3942C>G (p.Asn1314Lys)
c.2475C>G (p.Asn825Lys)
c.3660C>G (p.Asn1220Lys)
c.3246C>G (p.Asn1082Lys)
c.3852C>G (p.Asn1284Lys)
c.4206C>G (p.Asn1402Lys)
 ClinVar dbSNP gnomAD v4
2g.25742311G=CA1239490403ASXL2c.4023C= (p.Asn1341=)
c.4026C= (p.Asn1342=)
c.3942C= (p.Asn1314=)
c.2475C= (p.Asn825=)
c.3660C= (p.Asn1220=)
c.3246C= (p.Asn1082=)
c.3852C= (p.Asn1284=)
c.4206C= (p.Asn1402=)
2g.25742311G>TCA346074509ASXL2c.4023C>A (p.Asn1341Lys)
c.4026C>A (p.Asn1342Lys)
c.3942C>A (p.Asn1314Lys)
c.2475C>A (p.Asn825Lys)
c.3660C>A (p.Asn1220Lys)
c.3246C>A (p.Asn1082Lys)
c.3852C>A (p.Asn1284Lys)
c.4206C>A (p.Asn1402Lys)
2g.25742313_25742318delCA425354537ASXL2c.4018_4023del (p.His1340_Asn1341del)
c.4021_4026del (p.His1341_Asn1342del)
c.3937_3942del (p.His1313_Asn1314del)
c.2470_2475del (p.His824_Asn825del)
c.3655_3660del (p.His1219_Asn1220del)
c.3241_3246del (p.His1081_Asn1082del)
c.3847_3852del (p.His1283_Asn1284del)
c.4201_4206del (p.His1401_Asn1402del)
2g.25742312T>ACA346074512ASXL2c.4022A>T (p.Asn1341Ile)
c.4025A>T (p.Asn1342Ile)
c.3941A>T (p.Asn1314Ile)
c.2474A>T (p.Asn825Ile)
c.3659A>T (p.Asn1220Ile)
c.3245A>T (p.Asn1082Ile)
c.3851A>T (p.Asn1284Ile)
c.4205A>T (p.Asn1402Ile)
2g.25742312T>CCA1557376ASXL2c.4022A>G (p.Asn1341Ser)
c.4025A>G (p.Asn1342Ser)
c.3941A>G (p.Asn1314Ser)
c.2474A>G (p.Asn825Ser)
c.3659A>G (p.Asn1220Ser)
c.3245A>G (p.Asn1082Ser)
c.3851A>G (p.Asn1284Ser)
c.4205A>G (p.Asn1402Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742312T>GCA346074517ASXL2c.4022A>C (p.Asn1341Thr)
c.4025A>C (p.Asn1342Thr)
c.3941A>C (p.Asn1314Thr)
c.2474A>C (p.Asn825Thr)
c.3659A>C (p.Asn1220Thr)
c.3245A>C (p.Asn1082Thr)
c.3851A>C (p.Asn1284Thr)
c.4205A>C (p.Asn1402Thr)
2g.25742312T=CA1239490404ASXL2c.4022A= (p.Asn1341=)
c.4025A= (p.Asn1342=)
c.3941A= (p.Asn1314=)
c.2474A= (p.Asn825=)
c.3659A= (p.Asn1220=)
c.3245A= (p.Asn1082=)
c.3851A= (p.Asn1284=)
c.4205A= (p.Asn1402=)
2g.25742313T>ACA346074523ASXL2c.4021A>T (p.Asn1341Tyr)
c.4024A>T (p.Asn1342Tyr)
c.3940A>T (p.Asn1314Tyr)
c.2473A>T (p.Asn825Tyr)
c.3658A>T (p.Asn1220Tyr)
c.3244A>T (p.Asn1082Tyr)
c.3850A>T (p.Asn1284Tyr)
c.4204A>T (p.Asn1402Tyr)
2g.25742313T>CCA346074526ASXL2c.4021A>G (p.Asn1341Asp)
c.4024A>G (p.Asn1342Asp)
c.3940A>G (p.Asn1314Asp)
c.2473A>G (p.Asn825Asp)
c.3658A>G (p.Asn1220Asp)
c.3244A>G (p.Asn1082Asp)
c.3850A>G (p.Asn1284Asp)
c.4204A>G (p.Asn1402Asp)
2g.25742313T>GCA346074521ASXL2c.4021A>C (p.Asn1341His)
c.4024A>C (p.Asn1342His)
c.3940A>C (p.Asn1314His)
c.2473A>C (p.Asn825His)
c.3658A>C (p.Asn1220His)
c.3244A>C (p.Asn1082His)
c.3850A>C (p.Asn1284His)
c.4204A>C (p.Asn1402His)
2g.25742314A=CA1239490405ASXL2c.4020T= (p.His1340=)
c.4023T= (p.His1341=)
c.3939T= (p.His1313=)
c.2472T= (p.His824=)
c.3657T= (p.His1219=)
c.3243T= (p.His1081=)
c.3849T= (p.His1283=)
c.4203T= (p.His1401=)
2g.25742314A>CCA346074530ASXL2c.4020T>G (p.His1340Gln)
c.4023T>G (p.His1341Gln)
c.3939T>G (p.His1313Gln)
c.2472T>G (p.His824Gln)
c.3657T>G (p.His1219Gln)
c.3243T>G (p.His1081Gln)
c.3849T>G (p.His1283Gln)
c.4203T>G (p.His1401Gln)
2g.25742314A>GCA1557377ASXL2c.4020T>C (p.His1340=)
c.4023T>C (p.His1341=)
c.3939T>C (p.His1313=)
c.2472T>C (p.His824=)
c.3657T>C (p.His1219=)
c.3243T>C (p.His1081=)
c.3849T>C (p.His1283=)
c.4203T>C (p.His1401=)
 dbSNP ExAC gnomAD v2
2g.25742314A>TCA346074535ASXL2c.4020T>A (p.His1340Gln)
c.4023T>A (p.His1341Gln)
c.3939T>A (p.His1313Gln)
c.2472T>A (p.His824Gln)
c.3657T>A (p.His1219Gln)
c.3243T>A (p.His1081Gln)
c.3849T>A (p.His1283Gln)
c.4203T>A (p.His1401Gln)
2g.25742315T>ACA346074539ASXL2c.4019A>T (p.His1340Leu)
c.4022A>T (p.His1341Leu)
c.3938A>T (p.His1313Leu)
c.2471A>T (p.His824Leu)
c.3656A>T (p.His1219Leu)
c.3242A>T (p.His1081Leu)
c.3848A>T (p.His1283Leu)
c.4202A>T (p.His1401Leu)
2g.25742315T>CCA346074542ASXL2c.4019A>G (p.His1340Arg)
c.4022A>G (p.His1341Arg)
c.3938A>G (p.His1313Arg)
c.2471A>G (p.His824Arg)
c.3656A>G (p.His1219Arg)
c.3242A>G (p.His1081Arg)
c.3848A>G (p.His1283Arg)
c.4202A>G (p.His1401Arg)
2g.25742315T>GCA346074543ASXL2c.4019A>C (p.His1340Pro)
c.4022A>C (p.His1341Pro)
c.3938A>C (p.His1313Pro)
c.2471A>C (p.His824Pro)
c.3656A>C (p.His1219Pro)
c.3242A>C (p.His1081Pro)
c.3848A>C (p.His1283Pro)
c.4202A>C (p.His1401Pro)
2g.25742316G>ACA346074544ASXL2c.4018C>T (p.His1340Tyr)
c.4021C>T (p.His1341Tyr)
c.3937C>T (p.His1313Tyr)
c.2470C>T (p.His824Tyr)
c.3655C>T (p.His1219Tyr)
c.3241C>T (p.His1081Tyr)
c.3847C>T (p.His1283Tyr)
c.4201C>T (p.His1401Tyr)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.25742316G>CCA346074545ASXL2c.4018C>G (p.His1340Asp)
c.4021C>G (p.His1341Asp)
c.3937C>G (p.His1313Asp)
c.2470C>G (p.His824Asp)
c.3655C>G (p.His1219Asp)
c.3241C>G (p.His1081Asp)
c.3847C>G (p.His1283Asp)
c.4201C>G (p.His1401Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.25742316G=CA1239490406ASXL2c.4018C= (p.His1340=)
c.4021C= (p.His1341=)
c.3937C= (p.His1313=)
c.2470C= (p.His824=)
c.3655C= (p.His1219=)
c.3241C= (p.His1081=)
c.3847C= (p.His1283=)
c.4201C= (p.His1401=)
2g.25742316G>TCA346074546ASXL2c.4018C>A (p.His1340Asn)
c.4021C>A (p.His1341Asn)
c.3937C>A (p.His1313Asn)
c.2470C>A (p.His824Asn)
c.3655C>A (p.His1219Asn)
c.3241C>A (p.His1081Asn)
c.3847C>A (p.His1283Asn)
c.4201C>A (p.His1401Asn)
 gnomAD v4
2g.25742317G>ACA425354558ASXL2c.4017C>T (p.Asp1339=)
c.4020C>T (p.Asp1340=)
c.3936C>T (p.Asp1312=)
c.2469C>T (p.Asp823=)
c.3654C>T (p.Asp1218=)
c.3240C>T (p.Asp1080=)
c.3846C>T (p.Asp1282=)
c.4200C>T (p.Asp1400=)
 dbSNP
2g.25742317G>CCA346074548ASXL2c.4017C>G (p.Asp1339Glu)
c.4020C>G (p.Asp1340Glu)
c.3936C>G (p.Asp1312Glu)
c.2469C>G (p.Asp823Glu)
c.3654C>G (p.Asp1218Glu)
c.3240C>G (p.Asp1080Glu)
c.3846C>G (p.Asp1282Glu)
c.4200C>G (p.Asp1400Glu)
2g.25742317G=CA1239490407ASXL2c.4017C= (p.Asp1339=)
c.4020C= (p.Asp1340=)
c.3936C= (p.Asp1312=)
c.2469C= (p.Asp823=)
c.3654C= (p.Asp1218=)
c.3240C= (p.Asp1080=)
c.3846C= (p.Asp1282=)
c.4200C= (p.Asp1400=)
2g.25742317G>TCA346074549ASXL2c.4017C>A (p.Asp1339Glu)
c.4020C>A (p.Asp1340Glu)
c.3936C>A (p.Asp1312Glu)
c.2469C>A (p.Asp823Glu)
c.3654C>A (p.Asp1218Glu)
c.3240C>A (p.Asp1080Glu)
c.3846C>A (p.Asp1282Glu)
c.4200C>A (p.Asp1400Glu)
 gnomAD v4
2g.25742318T>ACA346074554ASXL2c.4016A>T (p.Asp1339Val)
c.4019A>T (p.Asp1340Val)
c.3935A>T (p.Asp1312Val)
c.2468A>T (p.Asp823Val)
c.3653A>T (p.Asp1218Val)
c.3239A>T (p.Asp1080Val)
c.3845A>T (p.Asp1282Val)
c.4199A>T (p.Asp1400Val)
2g.25742318T>CCA346074556ASXL2c.4016A>G (p.Asp1339Gly)
c.4019A>G (p.Asp1340Gly)
c.3935A>G (p.Asp1312Gly)
c.2468A>G (p.Asp823Gly)
c.3653A>G (p.Asp1218Gly)
c.3239A>G (p.Asp1080Gly)
c.3845A>G (p.Asp1282Gly)
c.4199A>G (p.Asp1400Gly)
2g.25742318T>GCA346074551ASXL2c.4016A>C (p.Asp1339Ala)
c.4019A>C (p.Asp1340Ala)
c.3935A>C (p.Asp1312Ala)
c.2468A>C (p.Asp823Ala)
c.3653A>C (p.Asp1218Ala)
c.3239A>C (p.Asp1080Ala)
c.3845A>C (p.Asp1282Ala)
c.4199A>C (p.Asp1400Ala)
 gnomAD v4
2g.25742319C>ACA346074563ASXL2c.4015G>T (p.Asp1339Tyr)
c.4018G>T (p.Asp1340Tyr)
c.3934G>T (p.Asp1312Tyr)
c.2467G>T (p.Asp823Tyr)
c.3652G>T (p.Asp1218Tyr)
c.3238G>T (p.Asp1080Tyr)
c.3844G>T (p.Asp1282Tyr)
c.4198G>T (p.Asp1400Tyr)
 gnomAD v4
2g.25742319C>GCA346074565ASXL2c.4015G>C (p.Asp1339His)
c.4018G>C (p.Asp1340His)
c.3934G>C (p.Asp1312His)
c.2467G>C (p.Asp823His)
c.3652G>C (p.Asp1218His)
c.3238G>C (p.Asp1080His)
c.3844G>C (p.Asp1282His)
c.4198G>C (p.Asp1400His)
2g.25742319C>TCA346074567ASXL2c.4015G>A (p.Asp1339Asn)
c.4018G>A (p.Asp1340Asn)
c.3934G>A (p.Asp1312Asn)
c.2467G>A (p.Asp823Asn)
c.3652G>A (p.Asp1218Asn)
c.3238G>A (p.Asp1080Asn)
c.3844G>A (p.Asp1282Asn)
c.4198G>A (p.Asp1400Asn)
 gnomAD v4
2g.25742320C>ACA346074572ASXL2c.4014G>T (p.Met1338Ile)
c.4017G>T (p.Met1339Ile)
c.3933G>T (p.Met1311Ile)
c.2466G>T (p.Met822Ile)
c.3651G>T (p.Met1217Ile)
c.3237G>T (p.Met1079Ile)
c.3843G>T (p.Met1281Ile)
c.4197G>T (p.Met1399Ile)
2g.25742320C>GCA346074574ASXL2c.4014G>C (p.Met1338Ile)
c.4017G>C (p.Met1339Ile)
c.3933G>C (p.Met1311Ile)
c.2466G>C (p.Met822Ile)
c.3651G>C (p.Met1217Ile)
c.3237G>C (p.Met1079Ile)
c.3843G>C (p.Met1281Ile)
c.4197G>C (p.Met1399Ile)
2g.25742320C>TCA346074578ASXL2c.4014G>A (p.Met1338Ile)
c.4017G>A (p.Met1339Ile)
c.3933G>A (p.Met1311Ile)
c.2466G>A (p.Met822Ile)
c.3651G>A (p.Met1217Ile)
c.3237G>A (p.Met1079Ile)
c.3843G>A (p.Met1281Ile)
c.4197G>A (p.Met1399Ile)
 dbSNP gnomAD v4
2g.25742321A=CA1239490408ASXL2c.4013T= (p.Met1338=)
c.4016T= (p.Met1339=)
c.3932T= (p.Met1311=)
c.2465T= (p.Met822=)
c.3650T= (p.Met1217=)
c.3236T= (p.Met1079=)
c.3842T= (p.Met1281=)
c.4196T= (p.Met1399=)
2g.25742321A>CCA346074580ASXL2c.4013T>G (p.Met1338Arg)
c.4016T>G (p.Met1339Arg)
c.3932T>G (p.Met1311Arg)
c.2465T>G (p.Met822Arg)
c.3650T>G (p.Met1217Arg)
c.3236T>G (p.Met1079Arg)
c.3842T>G (p.Met1281Arg)
c.4196T>G (p.Met1399Arg)
 dbSNP
2g.25742321A>GCA43734223ASXL2c.4013T>C (p.Met1338Thr)
c.4016T>C (p.Met1339Thr)
c.3932T>C (p.Met1311Thr)
c.2465T>C (p.Met822Thr)
c.3650T>C (p.Met1217Thr)
c.3236T>C (p.Met1079Thr)
c.3842T>C (p.Met1281Thr)
c.4196T>C (p.Met1399Thr)
 dbSNP gnomAD v4
2g.25742321A>TCA346074582ASXL2c.4013T>A (p.Met1338Lys)
c.4016T>A (p.Met1339Lys)
c.3932T>A (p.Met1311Lys)
c.2465T>A (p.Met822Lys)
c.3650T>A (p.Met1217Lys)
c.3236T>A (p.Met1079Lys)
c.3842T>A (p.Met1281Lys)
c.4196T>A (p.Met1399Lys)
2g.25742322T>ACA346074588ASXL2c.4012A>T (p.Met1338Leu)
c.4015A>T (p.Met1339Leu)
c.3931A>T (p.Met1311Leu)
c.2464A>T (p.Met822Leu)
c.3649A>T (p.Met1217Leu)
c.3235A>T (p.Met1079Leu)
c.3841A>T (p.Met1281Leu)
c.4195A>T (p.Met1399Leu)
2g.25742322T>CCA1557378ASXL2c.4012A>G (p.Met1338Val)
c.4015A>G (p.Met1339Val)
c.3931A>G (p.Met1311Val)
c.2464A>G (p.Met822Val)
c.3649A>G (p.Met1217Val)
c.3235A>G (p.Met1079Val)
c.3841A>G (p.Met1281Val)
c.4195A>G (p.Met1399Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742322T>GCA346074591ASXL2c.4012A>C (p.Met1338Leu)
c.4015A>C (p.Met1339Leu)
c.3931A>C (p.Met1311Leu)
c.2464A>C (p.Met822Leu)
c.3649A>C (p.Met1217Leu)
c.3235A>C (p.Met1079Leu)
c.3841A>C (p.Met1281Leu)
c.4195A>C (p.Met1399Leu)
2g.25742322T=CA1239490409ASXL2c.4012A= (p.Met1338=)
c.4015A= (p.Met1339=)
c.3931A= (p.Met1311=)
c.2464A= (p.Met822=)
c.3649A= (p.Met1217=)
c.3235A= (p.Met1079=)
c.3841A= (p.Met1281=)
c.4195A= (p.Met1399=)
2g.25742323G>ACA425354573ASXL2c.4011C>T (p.Asp1337=)
c.4014C>T (p.Asp1338=)
c.3930C>T (p.Asp1310=)
c.2463C>T (p.Asp821=)
c.3648C>T (p.Asp1216=)
c.3234C>T (p.Asp1078=)
c.3840C>T (p.Asp1280=)
c.4194C>T (p.Asp1398=)
2g.25742323G>CCA346074594ASXL2c.4011C>G (p.Asp1337Glu)
c.4014C>G (p.Asp1338Glu)
c.3930C>G (p.Asp1310Glu)
c.2463C>G (p.Asp821Glu)
c.3648C>G (p.Asp1216Glu)
c.3234C>G (p.Asp1078Glu)
c.3840C>G (p.Asp1280Glu)
c.4194C>G (p.Asp1398Glu)
2g.25742323G>TCA346074596ASXL2c.4011C>A (p.Asp1337Glu)
c.4014C>A (p.Asp1338Glu)
c.3930C>A (p.Asp1310Glu)
c.2463C>A (p.Asp821Glu)
c.3648C>A (p.Asp1216Glu)
c.3234C>A (p.Asp1078Glu)
c.3840C>A (p.Asp1280Glu)
c.4194C>A (p.Asp1398Glu)
2g.25742324T>ACA346074603ASXL2c.4010A>T (p.Asp1337Val)
c.4013A>T (p.Asp1338Val)
c.3929A>T (p.Asp1310Val)
c.2462A>T (p.Asp821Val)
c.3647A>T (p.Asp1216Val)
c.3233A>T (p.Asp1078Val)
c.3839A>T (p.Asp1280Val)
c.4193A>T (p.Asp1398Val)
2g.25742324T>CCA346074601ASXL2c.4010A>G (p.Asp1337Gly)
c.4013A>G (p.Asp1338Gly)
c.3929A>G (p.Asp1310Gly)
c.2462A>G (p.Asp821Gly)
c.3647A>G (p.Asp1216Gly)
c.3233A>G (p.Asp1078Gly)
c.3839A>G (p.Asp1280Gly)
c.4193A>G (p.Asp1398Gly)
2g.25742324T>GCA346074598ASXL2c.4010A>C (p.Asp1337Ala)
c.4013A>C (p.Asp1338Ala)
c.3929A>C (p.Asp1310Ala)
c.2462A>C (p.Asp821Ala)
c.3647A>C (p.Asp1216Ala)
c.3233A>C (p.Asp1078Ala)
c.3839A>C (p.Asp1280Ala)
c.4193A>C (p.Asp1398Ala)
2g.25742325C>ACA346074610ASXL2c.4009G>T (p.Asp1337Tyr)
c.4012G>T (p.Asp1338Tyr)
c.3928G>T (p.Asp1310Tyr)
c.2461G>T (p.Asp821Tyr)
c.3646G>T (p.Asp1216Tyr)
c.3232G>T (p.Asp1078Tyr)
c.3838G>T (p.Asp1280Tyr)
c.4192G>T (p.Asp1398Tyr)
2g.25742325C=CA1239490410ASXL2c.4009G= (p.Asp1337=)
c.4012G= (p.Asp1338=)
c.3928G= (p.Asp1310=)
c.2461G= (p.Asp821=)
c.3646G= (p.Asp1216=)
c.3232G= (p.Asp1078=)
c.3838G= (p.Asp1280=)
c.4192G= (p.Asp1398=)
2g.25742325C>GCA346074608ASXL2c.4009G>C (p.Asp1337His)
c.4012G>C (p.Asp1338His)
c.3928G>C (p.Asp1310His)
c.2461G>C (p.Asp821His)
c.3646G>C (p.Asp1216His)
c.3232G>C (p.Asp1078His)
c.3838G>C (p.Asp1280His)
c.4192G>C (p.Asp1398His)
 dbSNP gnomAD v3 gnomAD v4
2g.25742325C>TCA346074613ASXL2c.4009G>A (p.Asp1337Asn)
c.4012G>A (p.Asp1338Asn)
c.3928G>A (p.Asp1310Asn)
c.2461G>A (p.Asp821Asn)
c.3646G>A (p.Asp1216Asn)
c.3232G>A (p.Asp1078Asn)
c.3838G>A (p.Asp1280Asn)
c.4192G>A (p.Asp1398Asn)
 ClinVar dbSNP
2g.25742326A>CCA425354579ASXL2c.4008T>G (p.Ser1336=)
c.4011T>G (p.Ser1337=)
c.3927T>G (p.Ser1309=)
c.2460T>G (p.Ser820=)
c.3645T>G (p.Ser1215=)
c.3231T>G (p.Ser1077=)
c.3837T>G (p.Ser1279=)
c.4191T>G (p.Ser1397=)
2g.25742326A>GCA425354580ASXL2c.4008T>C (p.Ser1336=)
c.4011T>C (p.Ser1337=)
c.3927T>C (p.Ser1309=)
c.2460T>C (p.Ser820=)
c.3645T>C (p.Ser1215=)
c.3231T>C (p.Ser1077=)
c.3837T>C (p.Ser1279=)
c.4191T>C (p.Ser1397=)
2g.25742326A>TCA425354581ASXL2c.4008T>A (p.Ser1336=)
c.4011T>A (p.Ser1337=)
c.3927T>A (p.Ser1309=)
c.2460T>A (p.Ser820=)
c.3645T>A (p.Ser1215=)
c.3231T>A (p.Ser1077=)
c.3837T>A (p.Ser1279=)
c.4191T>A (p.Ser1397=)
2g.25742327G>ACA346074616ASXL2c.4007C>T (p.Ser1336Phe)
c.4010C>T (p.Ser1337Phe)
c.3926C>T (p.Ser1309Phe)
c.2459C>T (p.Ser820Phe)
c.3644C>T (p.Ser1215Phe)
c.3230C>T (p.Ser1077Phe)
c.3836C>T (p.Ser1279Phe)
c.4190C>T (p.Ser1397Phe)
2g.25742327G>CCA346074618ASXL2c.4007C>G (p.Ser1336Cys)
c.4010C>G (p.Ser1337Cys)
c.3926C>G (p.Ser1309Cys)
c.2459C>G (p.Ser820Cys)
c.3644C>G (p.Ser1215Cys)
c.3230C>G (p.Ser1077Cys)
c.3836C>G (p.Ser1279Cys)
c.4190C>G (p.Ser1397Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.25742327G=CA1239490411ASXL2c.4007C= (p.Ser1336=)
c.4010C= (p.Ser1337=)
c.3926C= (p.Ser1309=)
c.2459C= (p.Ser820=)
c.3644C= (p.Ser1215=)
c.3230C= (p.Ser1077=)
c.3836C= (p.Ser1279=)
c.4190C= (p.Ser1397=)
2g.25742327G>TCA346074621ASXL2c.4007C>A (p.Ser1336Tyr)
c.4010C>A (p.Ser1337Tyr)
c.3926C>A (p.Ser1309Tyr)
c.2459C>A (p.Ser820Tyr)
c.3644C>A (p.Ser1215Tyr)
c.3230C>A (p.Ser1077Tyr)
c.3836C>A (p.Ser1279Tyr)
c.4190C>A (p.Ser1397Tyr)
2g.25742328A>CCA346074626ASXL2c.4006T>G (p.Ser1336Ala)
c.4009T>G (p.Ser1337Ala)
c.3925T>G (p.Ser1309Ala)
c.2458T>G (p.Ser820Ala)
c.3643T>G (p.Ser1215Ala)
c.3229T>G (p.Ser1077Ala)
c.3835T>G (p.Ser1279Ala)
c.4189T>G (p.Ser1397Ala)
2g.25742328A>GCA346074629ASXL2c.4006T>C (p.Ser1336Pro)
c.4009T>C (p.Ser1337Pro)
c.3925T>C (p.Ser1309Pro)
c.2458T>C (p.Ser820Pro)
c.3643T>C (p.Ser1215Pro)
c.3229T>C (p.Ser1077Pro)
c.3835T>C (p.Ser1279Pro)
c.4189T>C (p.Ser1397Pro)
2g.25742328A>TCA346074630ASXL2c.4006T>A (p.Ser1336Thr)
c.4009T>A (p.Ser1337Thr)
c.3925T>A (p.Ser1309Thr)
c.2458T>A (p.Ser820Thr)
c.3643T>A (p.Ser1215Thr)
c.3229T>A (p.Ser1077Thr)
c.3835T>A (p.Ser1279Thr)
c.4189T>A (p.Ser1397Thr)
2g.25742329T>ACA425354587ASXL2c.4005A>T (p.Ser1335=)
c.4008A>T (p.Ser1336=)
c.3924A>T (p.Ser1308=)
c.2457A>T (p.Ser819=)
c.3642A>T (p.Ser1214=)
c.3228A>T (p.Ser1076=)
c.3834A>T (p.Ser1278=)
c.4188A>T (p.Ser1396=)
2g.25742329T>CCA425354588ASXL2c.4005A>G (p.Ser1335=)
c.4008A>G (p.Ser1336=)
c.3924A>G (p.Ser1308=)
c.2457A>G (p.Ser819=)
c.3642A>G (p.Ser1214=)
c.3228A>G (p.Ser1076=)
c.3834A>G (p.Ser1278=)
c.4188A>G (p.Ser1396=)
 gnomAD v4
2g.25742329T>GCA425354586ASXL2c.4005A>C (p.Ser1335=)
c.4008A>C (p.Ser1336=)
c.3924A>C (p.Ser1308=)
c.2457A>C (p.Ser819=)
c.3642A>C (p.Ser1214=)
c.3228A>C (p.Ser1076=)
c.3834A>C (p.Ser1278=)
c.4188A>C (p.Ser1396=)
2g.25742330G>ACA346074634ASXL2c.4004C>T (p.Ser1335Leu)
c.4007C>T (p.Ser1336Leu)
c.3923C>T (p.Ser1308Leu)
c.2456C>T (p.Ser819Leu)
c.3641C>T (p.Ser1214Leu)
c.3227C>T (p.Ser1076Leu)
c.3833C>T (p.Ser1278Leu)
c.4187C>T (p.Ser1396Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.25742330G>CCA346074636ASXL2c.4004C>G (p.Ser1335Ter)
c.4007C>G (p.Ser1336Ter)
c.3923C>G (p.Ser1308Ter)
c.2456C>G (p.Ser819Ter)
c.3641C>G (p.Ser1214Ter)
c.3227C>G (p.Ser1076Ter)
c.3833C>G (p.Ser1278Ter)
c.4187C>G (p.Ser1396Ter)
2g.25742330G=CA1239490412ASXL2c.4004C= (p.Ser1335=)
c.4007C= (p.Ser1336=)
c.3923C= (p.Ser1308=)
c.2456C= (p.Ser819=)
c.3641C= (p.Ser1214=)
c.3227C= (p.Ser1076=)
c.3833C= (p.Ser1278=)
c.4187C= (p.Ser1396=)
2g.25742330G>TCA346074639ASXL2c.4004C>A (p.Ser1335Ter)
c.4007C>A (p.Ser1336Ter)
c.3923C>A (p.Ser1308Ter)
c.2456C>A (p.Ser819Ter)
c.3641C>A (p.Ser1214Ter)
c.3227C>A (p.Ser1076Ter)
c.3833C>A (p.Ser1278Ter)
c.4187C>A (p.Ser1396Ter)
2g.25742331A>CCA346074641ASXL2c.4003T>G (p.Ser1335Ala)
c.4006T>G (p.Ser1336Ala)
c.3922T>G (p.Ser1308Ala)
c.2455T>G (p.Ser819Ala)
c.3640T>G (p.Ser1214Ala)
c.3226T>G (p.Ser1076Ala)
c.3832T>G (p.Ser1278Ala)
c.4186T>G (p.Ser1396Ala)
2g.25742331A>GCA346074644ASXL2c.4003T>C (p.Ser1335Pro)
c.4006T>C (p.Ser1336Pro)
c.3922T>C (p.Ser1308Pro)
c.2455T>C (p.Ser819Pro)
c.3640T>C (p.Ser1214Pro)
c.3226T>C (p.Ser1076Pro)
c.3832T>C (p.Ser1278Pro)
c.4186T>C (p.Ser1396Pro)
2g.25742331A>TCA346074646ASXL2c.4003T>A (p.Ser1335Thr)
c.4006T>A (p.Ser1336Thr)
c.3922T>A (p.Ser1308Thr)
c.2455T>A (p.Ser819Thr)
c.3640T>A (p.Ser1214Thr)
c.3226T>A (p.Ser1076Thr)
c.3832T>A (p.Ser1278Thr)
c.4186T>A (p.Ser1396Thr)
2g.25742332G>ACA425354597ASXL2c.4002C>T (p.Thr1334=)
c.4005C>T (p.Thr1335=)
c.3921C>T (p.Thr1307=)
c.2454C>T (p.Thr818=)
c.3639C>T (p.Thr1213=)
c.3225C>T (p.Thr1075=)
c.3831C>T (p.Thr1277=)
c.4185C>T (p.Thr1395=)
2g.25742332G>CCA425354599ASXL2c.4002C>G (p.Thr1334=)
c.4005C>G (p.Thr1335=)
c.3921C>G (p.Thr1307=)
c.2454C>G (p.Thr818=)
c.3639C>G (p.Thr1213=)
c.3225C>G (p.Thr1075=)
c.3831C>G (p.Thr1277=)
c.4185C>G (p.Thr1395=)
2g.25742332G>TCA425354600ASXL2c.4002C>A (p.Thr1334=)
c.4005C>A (p.Thr1335=)
c.3921C>A (p.Thr1307=)
c.2454C>A (p.Thr818=)
c.3639C>A (p.Thr1213=)
c.3225C>A (p.Thr1075=)
c.3831C>A (p.Thr1277=)
c.4185C>A (p.Thr1395=)
2g.25742333G>ACA346074654ASXL2c.4001C>T (p.Thr1334Ile)
c.4004C>T (p.Thr1335Ile)
c.3920C>T (p.Thr1307Ile)
c.2453C>T (p.Thr818Ile)
c.3638C>T (p.Thr1213Ile)
c.3224C>T (p.Thr1075Ile)
c.3830C>T (p.Thr1277Ile)
c.4184C>T (p.Thr1395Ile)
 gnomAD v4
2g.25742333G>CCA346074649ASXL2c.4001C>G (p.Thr1334Ser)
c.4004C>G (p.Thr1335Ser)
c.3920C>G (p.Thr1307Ser)
c.2453C>G (p.Thr818Ser)
c.3638C>G (p.Thr1213Ser)
c.3224C>G (p.Thr1075Ser)
c.3830C>G (p.Thr1277Ser)
c.4184C>G (p.Thr1395Ser)
2g.25742333G>TCA346074652ASXL2c.4001C>A (p.Thr1334Asn)
c.4004C>A (p.Thr1335Asn)
c.3920C>A (p.Thr1307Asn)
c.2453C>A (p.Thr818Asn)
c.3638C>A (p.Thr1213Asn)
c.3224C>A (p.Thr1075Asn)
c.3830C>A (p.Thr1277Asn)
c.4184C>A (p.Thr1395Asn)
2g.25742334T>ACA346074657ASXL2c.4000A>T (p.Thr1334Ser)
c.4003A>T (p.Thr1335Ser)
c.3919A>T (p.Thr1307Ser)
c.2452A>T (p.Thr818Ser)
c.3637A>T (p.Thr1213Ser)
c.3223A>T (p.Thr1075Ser)
c.3829A>T (p.Thr1277Ser)
c.4183A>T (p.Thr1395Ser)
2g.25742334T>CCA346074660ASXL2c.4000A>G (p.Thr1334Ala)
c.4003A>G (p.Thr1335Ala)
c.3919A>G (p.Thr1307Ala)
c.2452A>G (p.Thr818Ala)
c.3637A>G (p.Thr1213Ala)
c.3223A>G (p.Thr1075Ala)
c.3829A>G (p.Thr1277Ala)
c.4183A>G (p.Thr1395Ala)
 gnomAD v4
2g.25742334T>GCA346074663ASXL2c.4000A>C (p.Thr1334Pro)
c.4003A>C (p.Thr1335Pro)
c.3919A>C (p.Thr1307Pro)
c.2452A>C (p.Thr818Pro)
c.3637A>C (p.Thr1213Pro)
c.3223A>C (p.Thr1075Pro)
c.3829A>C (p.Thr1277Pro)
c.4183A>C (p.Thr1395Pro)
2g.25742334dupCA2658189295ASXL2c.4000dup (p.Thr1334AsnfsTer4)
c.4003dup (p.Thr1335AsnfsTer4)
c.3919dup (p.Thr1307AsnfsTer4)
c.2452dup (p.Thr818AsnfsTer4)
c.3637dup (p.Thr1213AsnfsTer4)
c.3223dup (p.Thr1075AsnfsTer4)
c.3829dup (p.Thr1277AsnfsTer4)
c.4183dup (p.Thr1395AsnfsTer4)
 gnomAD v4
2g.25742335G>ACA1557379ASXL2c.3999C>T (p.Ser1333=)
c.4002C>T (p.Ser1334=)
c.3918C>T (p.Ser1306=)
c.2451C>T (p.Ser817=)
c.3636C>T (p.Ser1212=)
c.3222C>T (p.Ser1074=)
c.3828C>T (p.Ser1276=)
c.4182C>T (p.Ser1394=)
 dbSNP ExAC gnomAD v2
2g.25742335G>CCA425354606ASXL2c.3999C>G (p.Ser1333=)
c.4002C>G (p.Ser1334=)
c.3918C>G (p.Ser1306=)
c.2451C>G (p.Ser817=)
c.3636C>G (p.Ser1212=)
c.3222C>G (p.Ser1074=)
c.3828C>G (p.Ser1276=)
c.4182C>G (p.Ser1394=)
2g.25742335G=CA1239490413ASXL2c.3999C= (p.Ser1333=)
c.4002C= (p.Ser1334=)
c.3918C= (p.Ser1306=)
c.2451C= (p.Ser817=)
c.3636C= (p.Ser1212=)
c.3222C= (p.Ser1074=)
c.3828C= (p.Ser1276=)
c.4182C= (p.Ser1394=)
2g.25742335G>TCA425354608ASXL2c.3999C>A (p.Ser1333=)
c.4002C>A (p.Ser1334=)
c.3918C>A (p.Ser1306=)
c.2451C>A (p.Ser817=)
c.3636C>A (p.Ser1212=)
c.3222C>A (p.Ser1074=)
c.3828C>A (p.Ser1276=)
c.4182C>A (p.Ser1394=)
2g.25742336G>ACA346074670ASXL2c.3998C>T (p.Ser1333Phe)
c.4001C>T (p.Ser1334Phe)
c.3917C>T (p.Ser1306Phe)
c.2450C>T (p.Ser817Phe)
c.3635C>T (p.Ser1212Phe)
c.3221C>T (p.Ser1074Phe)
c.3827C>T (p.Ser1276Phe)
c.4181C>T (p.Ser1394Phe)
2g.25742336G>CCA346074673ASXL2c.3998C>G (p.Ser1333Cys)
c.4001C>G (p.Ser1334Cys)
c.3917C>G (p.Ser1306Cys)
c.2450C>G (p.Ser817Cys)
c.3635C>G (p.Ser1212Cys)
c.3221C>G (p.Ser1074Cys)
c.3827C>G (p.Ser1276Cys)
c.4181C>G (p.Ser1394Cys)
2g.25742336G>TCA346074677ASXL2c.3998C>A (p.Ser1333Tyr)
c.4001C>A (p.Ser1334Tyr)
c.3917C>A (p.Ser1306Tyr)
c.2450C>A (p.Ser817Tyr)
c.3635C>A (p.Ser1212Tyr)
c.3221C>A (p.Ser1074Tyr)
c.3827C>A (p.Ser1276Tyr)
c.4181C>A (p.Ser1394Tyr)
2g.25742337A=CA1239490414ASXL2c.3997T= (p.Ser1333=)
c.4000T= (p.Ser1334=)
c.3916T= (p.Ser1306=)
c.2449T= (p.Ser817=)
c.3634T= (p.Ser1212=)
c.3220T= (p.Ser1074=)
c.3826T= (p.Ser1276=)
c.4180T= (p.Ser1394=)
2g.25742337A>CCA1557380ASXL2c.3997T>G (p.Ser1333Ala)
c.4000T>G (p.Ser1334Ala)
c.3916T>G (p.Ser1306Ala)
c.2449T>G (p.Ser817Ala)
c.3634T>G (p.Ser1212Ala)
c.3220T>G (p.Ser1074Ala)
c.3826T>G (p.Ser1276Ala)
c.4180T>G (p.Ser1394Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742337A>GCA346074682ASXL2c.3997T>C (p.Ser1333Pro)
c.4000T>C (p.Ser1334Pro)
c.3916T>C (p.Ser1306Pro)
c.2449T>C (p.Ser817Pro)
c.3634T>C (p.Ser1212Pro)
c.3220T>C (p.Ser1074Pro)
c.3826T>C (p.Ser1276Pro)
c.4180T>C (p.Ser1394Pro)
2g.25742337A>TCA346074686ASXL2c.3997T>A (p.Ser1333Thr)
c.4000T>A (p.Ser1334Thr)
c.3916T>A (p.Ser1306Thr)
c.2449T>A (p.Ser817Thr)
c.3634T>A (p.Ser1212Thr)
c.3220T>A (p.Ser1074Thr)
c.3826T>A (p.Ser1276Thr)
c.4180T>A (p.Ser1394Thr)
2g.25742338G>ACA1557381ASXL2c.3996C>T (p.Val1332=)
c.3999C>T (p.Val1333=)
c.3915C>T (p.Val1305=)
c.2448C>T (p.Val816=)
c.3633C>T (p.Val1211=)
c.3219C>T (p.Val1073=)
c.3825C>T (p.Val1275=)
c.4179C>T (p.Val1393=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742338G>CCA425354616ASXL2c.3996C>G (p.Val1332=)
c.3999C>G (p.Val1333=)
c.3915C>G (p.Val1305=)
c.2448C>G (p.Val816=)
c.3633C>G (p.Val1211=)
c.3219C>G (p.Val1073=)
c.3825C>G (p.Val1275=)
c.4179C>G (p.Val1393=)
2g.25742338G=CA1239490415ASXL2c.3996C= (p.Val1332=)
c.3999C= (p.Val1333=)
c.3915C= (p.Val1305=)
c.2448C= (p.Val816=)
c.3633C= (p.Val1211=)
c.3219C= (p.Val1073=)
c.3825C= (p.Val1275=)
c.4179C= (p.Val1393=)
2g.25742338G>TCA425354620ASXL2c.3996C>A (p.Val1332=)
c.3999C>A (p.Val1333=)
c.3915C>A (p.Val1305=)
c.2448C>A (p.Val816=)
c.3633C>A (p.Val1211=)
c.3219C>A (p.Val1073=)
c.3825C>A (p.Val1275=)
c.4179C>A (p.Val1393=)
2g.25742339A>CCA346074697ASXL2c.3995T>G (p.Val1332Gly)
c.3998T>G (p.Val1333Gly)
c.3914T>G (p.Val1305Gly)
c.2447T>G (p.Val816Gly)
c.3632T>G (p.Val1211Gly)
c.3218T>G (p.Val1073Gly)
c.3824T>G (p.Val1275Gly)
c.4178T>G (p.Val1393Gly)
 gnomAD v4
2g.25742339A>GCA346074694ASXL2c.3995T>C (p.Val1332Ala)
c.3998T>C (p.Val1333Ala)
c.3914T>C (p.Val1305Ala)
c.2447T>C (p.Val816Ala)
c.3632T>C (p.Val1211Ala)
c.3218T>C (p.Val1073Ala)
c.3824T>C (p.Val1275Ala)
c.4178T>C (p.Val1393Ala)
 gnomAD v4
2g.25742339A>TCA346074690ASXL2c.3995T>A (p.Val1332Asp)
c.3998T>A (p.Val1333Asp)
c.3914T>A (p.Val1305Asp)
c.2447T>A (p.Val816Asp)
c.3632T>A (p.Val1211Asp)
c.3218T>A (p.Val1073Asp)
c.3824T>A (p.Val1275Asp)
c.4178T>A (p.Val1393Asp)
2g.25742340C>ACA346074701ASXL2c.3994G>T (p.Val1332Phe)
c.3997G>T (p.Val1333Phe)
c.3913G>T (p.Val1305Phe)
c.2446G>T (p.Val816Phe)
c.3631G>T (p.Val1211Phe)
c.3217G>T (p.Val1073Phe)
c.3823G>T (p.Val1275Phe)
c.4177G>T (p.Val1393Phe)
 COSMIC COSMIC
2g.25742340C>GCA346074703ASXL2c.3994G>C (p.Val1332Leu)
c.3997G>C (p.Val1333Leu)
c.3913G>C (p.Val1305Leu)
c.2446G>C (p.Val816Leu)
c.3631G>C (p.Val1211Leu)
c.3217G>C (p.Val1073Leu)
c.3823G>C (p.Val1275Leu)
c.4177G>C (p.Val1393Leu)
2g.25742340C>TCA346074705ASXL2c.3994G>A (p.Val1332Ile)
c.3997G>A (p.Val1333Ile)
c.3913G>A (p.Val1305Ile)
c.2446G>A (p.Val816Ile)
c.3631G>A (p.Val1211Ile)
c.3217G>A (p.Val1073Ile)
c.3823G>A (p.Val1275Ile)
c.4177G>A (p.Val1393Ile)
2g.25742341A=CA1239490416ASXL2c.3993T= (p.Asn1331=)
c.3996T= (p.Asn1332=)
c.3912T= (p.Asn1304=)
c.2445T= (p.Asn815=)
c.3630T= (p.Asn1210=)
c.3216T= (p.Asn1072=)
c.3822T= (p.Asn1274=)
c.4176T= (p.Asn1392=)
2g.25742341A>CCA346074708ASXL2c.3993T>G (p.Asn1331Lys)
c.3996T>G (p.Asn1332Lys)
c.3912T>G (p.Asn1304Lys)
c.2445T>G (p.Asn815Lys)
c.3630T>G (p.Asn1210Lys)
c.3216T>G (p.Asn1072Lys)
c.3822T>G (p.Asn1274Lys)
c.4176T>G (p.Asn1392Lys)
2g.25742341A>GCA425354624ASXL2c.3993T>C (p.Asn1331=)
c.3996T>C (p.Asn1332=)
c.3912T>C (p.Asn1304=)
c.2445T>C (p.Asn815=)
c.3630T>C (p.Asn1210=)
c.3216T>C (p.Asn1072=)
c.3822T>C (p.Asn1274=)
c.4176T>C (p.Asn1392=)
 dbSNP gnomAD v4
2g.25742341A>TCA346074710ASXL2c.3993T>A (p.Asn1331Lys)
c.3996T>A (p.Asn1332Lys)
c.3912T>A (p.Asn1304Lys)
c.2445T>A (p.Asn815Lys)
c.3630T>A (p.Asn1210Lys)
c.3216T>A (p.Asn1072Lys)
c.3822T>A (p.Asn1274Lys)
c.4176T>A (p.Asn1392Lys)
 gnomAD v4
2g.25742342T>ACA346074723ASXL2c.3992A>T (p.Asn1331Ile)
c.3995A>T (p.Asn1332Ile)
c.3911A>T (p.Asn1304Ile)
c.2444A>T (p.Asn815Ile)
c.3629A>T (p.Asn1210Ile)
c.3215A>T (p.Asn1072Ile)
c.3821A>T (p.Asn1274Ile)
c.4175A>T (p.Asn1392Ile)
2g.25742342T>CCA1557382ASXL2c.3992A>G (p.Asn1331Ser)
c.3995A>G (p.Asn1332Ser)
c.3911A>G (p.Asn1304Ser)
c.2444A>G (p.Asn815Ser)
c.3629A>G (p.Asn1210Ser)
c.3215A>G (p.Asn1072Ser)
c.3821A>G (p.Asn1274Ser)
c.4175A>G (p.Asn1392Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742342T>GCA346074728ASXL2c.3992A>C (p.Asn1331Thr)
c.3995A>C (p.Asn1332Thr)
c.3911A>C (p.Asn1304Thr)
c.2444A>C (p.Asn815Thr)
c.3629A>C (p.Asn1210Thr)
c.3215A>C (p.Asn1072Thr)
c.3821A>C (p.Asn1274Thr)
c.4175A>C (p.Asn1392Thr)
2g.25742342T=CA1239490417ASXL2c.3992A= (p.Asn1331=)
c.3995A= (p.Asn1332=)
c.3911A= (p.Asn1304=)
c.2444A= (p.Asn815=)
c.3629A= (p.Asn1210=)
c.3215A= (p.Asn1072=)
c.3821A= (p.Asn1274=)
c.4175A= (p.Asn1392=)
2g.25742343dupCA2749219310ASXL2c.3992dup (p.Asn1331LysfsTer7)
c.3995dup (p.Asn1332LysfsTer7)
c.3911dup (p.Asn1304LysfsTer7)
c.2444dup (p.Asn815LysfsTer7)
c.3629dup (p.Asn1210LysfsTer7)
c.3215dup (p.Asn1072LysfsTer7)
c.3821dup (p.Asn1274LysfsTer7)
c.4175dup (p.Asn1392LysfsTer7)
2g.25742343T>ACA346074733ASXL2c.3991A>T (p.Asn1331Tyr)
c.3994A>T (p.Asn1332Tyr)
c.3910A>T (p.Asn1304Tyr)
c.2443A>T (p.Asn815Tyr)
c.3628A>T (p.Asn1210Tyr)
c.3214A>T (p.Asn1072Tyr)
c.3820A>T (p.Asn1274Tyr)
c.4174A>T (p.Asn1392Tyr)
 ClinVar
2g.25742343T>CCA346074734ASXL2c.3991A>G (p.Asn1331Asp)
c.3994A>G (p.Asn1332Asp)
c.3910A>G (p.Asn1304Asp)
c.2443A>G (p.Asn815Asp)
c.3628A>G (p.Asn1210Asp)
c.3214A>G (p.Asn1072Asp)
c.3820A>G (p.Asn1274Asp)
c.4174A>G (p.Asn1392Asp)
2g.25742343T>GCA346074738ASXL2c.3991A>C (p.Asn1331His)
c.3994A>C (p.Asn1332His)
c.3910A>C (p.Asn1304His)
c.2443A>C (p.Asn815His)
c.3628A>C (p.Asn1210His)
c.3214A>C (p.Asn1072His)
c.3820A>C (p.Asn1274His)
c.4174A>C (p.Asn1392His)
2g.25742344G>ACA43734233ASXL2c.3990C>T (p.Ile1330=)
c.3993C>T (p.Ile1331=)
c.3909C>T (p.Ile1303=)
c.2442C>T (p.Ile814=)
c.3627C>T (p.Ile1209=)
c.3213C>T (p.Ile1071=)
c.3819C>T (p.Ile1273=)
c.4173C>T (p.Ile1391=)
 dbSNP gnomAD v2 gnomAD v4
2g.25742344G>CCA346074741ASXL2c.3990C>G (p.Ile1330Met)
c.3993C>G (p.Ile1331Met)
c.3909C>G (p.Ile1303Met)
c.2442C>G (p.Ile814Met)
c.3627C>G (p.Ile1209Met)
c.3213C>G (p.Ile1071Met)
c.3819C>G (p.Ile1273Met)
c.4173C>G (p.Ile1391Met)
2g.25742344G=CA1239490418ASXL2c.3990C= (p.Ile1330=)
c.3993C= (p.Ile1331=)
c.3909C= (p.Ile1303=)
c.2442C= (p.Ile814=)
c.3627C= (p.Ile1209=)
c.3213C= (p.Ile1071=)
c.3819C= (p.Ile1273=)
c.4173C= (p.Ile1391=)
2g.25742344G>TCA1557383ASXL2c.3990C>A (p.Ile1330=)
c.3993C>A (p.Ile1331=)
c.3909C>A (p.Ile1303=)
c.2442C>A (p.Ile814=)
c.3627C>A (p.Ile1209=)
c.3213C>A (p.Ile1071=)
c.3819C>A (p.Ile1273=)
c.4173C>A (p.Ile1391=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.25742345A=CA1239490419ASXL2c.3989T= (p.Ile1330=)
c.3992T= (p.Ile1331=)
c.3908T= (p.Ile1303=)
c.2441T= (p.Ile814=)
c.3626T= (p.Ile1209=)
c.3212T= (p.Ile1071=)
c.3818T= (p.Ile1273=)
c.4172T= (p.Ile1391=)
2g.25742345A>CCA346074752ASXL2c.3989T>G (p.Ile1330Ser)
c.3992T>G (p.Ile1331Ser)
c.3908T>G (p.Ile1303Ser)
c.2441T>G (p.Ile814Ser)
c.3626T>G (p.Ile1209Ser)
c.3212T>G (p.Ile1071Ser)
c.3818T>G (p.Ile1273Ser)
c.4172T>G (p.Ile1391Ser)
2g.25742345A>GCA346074746ASXL2c.3989T>C (p.Ile1330Thr)
c.3992T>C (p.Ile1331Thr)
c.3908T>C (p.Ile1303Thr)
c.2441T>C (p.Ile814Thr)
c.3626T>C (p.Ile1209Thr)
c.3212T>C (p.Ile1071Thr)
c.3818T>C (p.Ile1273Thr)
c.4172T>C (p.Ile1391Thr)
 dbSNP gnomAD v4
2g.25742345A>TCA346074749ASXL2c.3989T>A (p.Ile1330Asn)
c.3992T>A (p.Ile1331Asn)
c.3908T>A (p.Ile1303Asn)
c.2441T>A (p.Ile814Asn)
c.3626T>A (p.Ile1209Asn)
c.3212T>A (p.Ile1071Asn)
c.3818T>A (p.Ile1273Asn)
c.4172T>A (p.Ile1391Asn)
2g.25742346T>ACA346074755ASXL2c.3988A>T (p.Ile1330Phe)
c.3991A>T (p.Ile1331Phe)
c.3907A>T (p.Ile1303Phe)
c.2440A>T (p.Ile814Phe)
c.3625A>T (p.Ile1209Phe)
c.3211A>T (p.Ile1071Phe)
c.3817A>T (p.Ile1273Phe)
c.4171A>T (p.Ile1391Phe)
2g.25742346T>CCA346074758ASXL2c.3988A>G (p.Ile1330Val)
c.3991A>G (p.Ile1331Val)
c.3907A>G (p.Ile1303Val)
c.2440A>G (p.Ile814Val)
c.3625A>G (p.Ile1209Val)
c.3211A>G (p.Ile1071Val)
c.3817A>G (p.Ile1273Val)
c.4171A>G (p.Ile1391Val)
2g.25742346T>GCA346074761ASXL2c.3988A>C (p.Ile1330Leu)
c.3991A>C (p.Ile1331Leu)
c.3907A>C (p.Ile1303Leu)
c.2440A>C (p.Ile814Leu)
c.3625A>C (p.Ile1209Leu)
c.3211A>C (p.Ile1071Leu)
c.3817A>C (p.Ile1273Leu)
c.4171A>C (p.Ile1391Leu)
2g.25742347C>ACA346074766ASXL2c.3987G>T (p.Met1329Ile)
c.3990G>T (p.Met1330Ile)
c.3906G>T (p.Met1302Ile)
c.2439G>T (p.Met813Ile)
c.3624G>T (p.Met1208Ile)
c.3210G>T (p.Met1070Ile)
c.3816G>T (p.Met1272Ile)
c.4170G>T (p.Met1390Ile)
2g.25742347C=CA1239490420ASXL2c.3987G= (p.Met1329=)
c.3990G= (p.Met1330=)
c.3906G= (p.Met1302=)
c.2439G= (p.Met813=)
c.3624G= (p.Met1208=)
c.3210G= (p.Met1070=)
c.3816G= (p.Met1272=)
c.4170G= (p.Met1390=)
2g.25742347C>GCA346074776ASXL2c.3987G>C (p.Met1329Ile)
c.3990G>C (p.Met1330Ile)
c.3906G>C (p.Met1302Ile)
c.2439G>C (p.Met813Ile)
c.3624G>C (p.Met1208Ile)
c.3210G>C (p.Met1070Ile)
c.3816G>C (p.Met1272Ile)
c.4170G>C (p.Met1390Ile)
2g.25742347C>TCA43734237ASXL2c.3987G>A (p.Met1329Ile)
c.3990G>A (p.Met1330Ile)
c.3906G>A (p.Met1302Ile)
c.2439G>A (p.Met813Ile)
c.3624G>A (p.Met1208Ile)
c.3210G>A (p.Met1070Ile)
c.3816G>A (p.Met1272Ile)
c.4170G>A (p.Met1390Ile)
 dbSNP
2g.25742348A>CCA346074781ASXL2c.3986T>G (p.Met1329Arg)
c.3989T>G (p.Met1330Arg)
c.3905T>G (p.Met1302Arg)
c.2438T>G (p.Met813Arg)
c.3623T>G (p.Met1208Arg)
c.3209T>G (p.Met1070Arg)
c.3815T>G (p.Met1272Arg)
c.4169T>G (p.Met1390Arg)
2g.25742348A>GCA346074784ASXL2c.3986T>C (p.Met1329Thr)
c.3989T>C (p.Met1330Thr)
c.3905T>C (p.Met1302Thr)
c.2438T>C (p.Met813Thr)
c.3623T>C (p.Met1208Thr)
c.3209T>C (p.Met1070Thr)
c.3815T>C (p.Met1272Thr)
c.4169T>C (p.Met1390Thr)
2g.25742348A>TCA346074787ASXL2c.3986T>A (p.Met1329Lys)
c.3989T>A (p.Met1330Lys)
c.3905T>A (p.Met1302Lys)
c.2438T>A (p.Met813Lys)
c.3623T>A (p.Met1208Lys)
c.3209T>A (p.Met1070Lys)
c.3815T>A (p.Met1272Lys)
c.4169T>A (p.Met1390Lys)
2g.25742349T>ACA346074793ASXL2c.3985A>T (p.Met1329Leu)
c.3988A>T (p.Met1330Leu)
c.3904A>T (p.Met1302Leu)
c.2437A>T (p.Met813Leu)
c.3622A>T (p.Met1208Leu)
c.3208A>T (p.Met1070Leu)
c.3814A>T (p.Met1272Leu)
c.4168A>T (p.Met1390Leu)
2g.25742349T>CCA346074795ASXL2c.3985A>G (p.Met1329Val)
c.3988A>G (p.Met1330Val)
c.3904A>G (p.Met1302Val)
c.2437A>G (p.Met813Val)
c.3622A>G (p.Met1208Val)
c.3208A>G (p.Met1070Val)
c.3814A>G (p.Met1272Val)
c.4168A>G (p.Met1390Val)
 dbSNP gnomAD v2 gnomAD v4
2g.25742349T>GCA346074797ASXL2c.3985A>C (p.Met1329Leu)
c.3988A>C (p.Met1330Leu)
c.3904A>C (p.Met1302Leu)
c.2437A>C (p.Met813Leu)
c.3622A>C (p.Met1208Leu)
c.3208A>C (p.Met1070Leu)
c.3814A>C (p.Met1272Leu)
c.4168A>C (p.Met1390Leu)
2g.25742349T=CA1239490421ASXL2c.3985A= (p.Met1329=)
c.3988A= (p.Met1330=)
c.3904A= (p.Met1302=)
c.2437A= (p.Met813=)
c.3622A= (p.Met1208=)
c.3208A= (p.Met1070=)
c.3814A= (p.Met1272=)
c.4168A= (p.Met1390=)
2g.25742350G>ACA425354650ASXL2c.3984C>T (p.Gly1328=)
c.3987C>T (p.Gly1329=)
c.3903C>T (p.Gly1301=)
c.2436C>T (p.Gly812=)
c.3621C>T (p.Gly1207=)
c.3207C>T (p.Gly1069=)
c.3813C>T (p.Gly1271=)
c.4167C>T (p.Gly1389=)
 dbSNP
2g.25742350G>CCA425354652ASXL2c.3984C>G (p.Gly1328=)
c.3987C>G (p.Gly1329=)
c.3903C>G (p.Gly1301=)
c.2436C>G (p.Gly812=)
c.3621C>G (p.Gly1207=)
c.3207C>G (p.Gly1069=)
c.3813C>G (p.Gly1271=)
c.4167C>G (p.Gly1389=)
2g.25742350G=CA1239490422ASXL2c.3984C= (p.Gly1328=)
c.3987C= (p.Gly1329=)
c.3903C= (p.Gly1301=)
c.2436C= (p.Gly812=)
c.3621C= (p.Gly1207=)
c.3207C= (p.Gly1069=)
c.3813C= (p.Gly1271=)
c.4167C= (p.Gly1389=)
2g.25742350G>TCA425354649ASXL2c.3984C>A (p.Gly1328=)
c.3987C>A (p.Gly1329=)
c.3903C>A (p.Gly1301=)
c.2436C>A (p.Gly812=)
c.3621C>A (p.Gly1207=)
c.3207C>A (p.Gly1069=)
c.3813C>A (p.Gly1271=)
c.4167C>A (p.Gly1389=)
2g.25742351C>ACA346074804ASXL2c.3983G>T (p.Gly1328Val)
c.3986G>T (p.Gly1329Val)
c.3902G>T (p.Gly1301Val)
c.2435G>T (p.Gly812Val)
c.3620G>T (p.Gly1207Val)
c.3206G>T (p.Gly1069Val)
c.3812G>T (p.Gly1271Val)
c.4166G>T (p.Gly1389Val)
2g.25742351C>GCA346074807ASXL2c.3983G>C (p.Gly1328Ala)
c.3986G>C (p.Gly1329Ala)
c.3902G>C (p.Gly1301Ala)
c.2435G>C (p.Gly812Ala)
c.3620G>C (p.Gly1207Ala)
c.3206G>C (p.Gly1069Ala)
c.3812G>C (p.Gly1271Ala)
c.4166G>C (p.Gly1389Ala)
2g.25742351C>TCA346074802ASXL2c.3983G>A (p.Gly1328Asp)
c.3986G>A (p.Gly1329Asp)
c.3902G>A (p.Gly1301Asp)
c.2435G>A (p.Gly812Asp)
c.3620G>A (p.Gly1207Asp)
c.3206G>A (p.Gly1069Asp)
c.3812G>A (p.Gly1271Asp)
c.4166G>A (p.Gly1389Asp)
 gnomAD v4
2g.25742352C>ACA346074811ASXL2c.3982G>T (p.Gly1328Cys)
c.3985G>T (p.Gly1329Cys)
c.3901G>T (p.Gly1301Cys)
c.2434G>T (p.Gly812Cys)
c.3619G>T (p.Gly1207Cys)
c.3205G>T (p.Gly1069Cys)
c.3811G>T (p.Gly1271Cys)
c.4165G>T (p.Gly1389Cys)
2g.25742352C>GCA346074815ASXL2c.3982G>C (p.Gly1328Arg)
c.3985G>C (p.Gly1329Arg)
c.3901G>C (p.Gly1301Arg)
c.2434G>C (p.Gly812Arg)
c.3619G>C (p.Gly1207Arg)
c.3205G>C (p.Gly1069Arg)
c.3811G>C (p.Gly1271Arg)
c.4165G>C (p.Gly1389Arg)
2g.25742352C>TCA346074817ASXL2c.3982G>A (p.Gly1328Ser)
c.3985G>A (p.Gly1329Ser)
c.3901G>A (p.Gly1301Ser)
c.2434G>A (p.Gly812Ser)
c.3619G>A (p.Gly1207Ser)
c.3205G>A (p.Gly1069Ser)
c.3811G>A (p.Gly1271Ser)
c.4165G>A (p.Gly1389Ser)
2g.25742353T>ACA346074821ASXL2c.3981A>T (p.Arg1327Ser)
c.3984A>T (p.Arg1328Ser)
c.3900A>T (p.Arg1300Ser)
c.2433A>T (p.Arg811Ser)
c.3618A>T (p.Arg1206Ser)
c.3204A>T (p.Arg1068Ser)
c.3810A>T (p.Arg1270Ser)
c.4164A>T (p.Arg1388Ser)
2g.25742353T>CCA425354658ASXL2c.3981A>G (p.Arg1327=)
c.3984A>G (p.Arg1328=)
c.3900A>G (p.Arg1300=)
c.2433A>G (p.Arg811=)
c.3618A>G (p.Arg1206=)
c.3204A>G (p.Arg1068=)
c.3810A>G (p.Arg1270=)
c.4164A>G (p.Arg1388=)
2g.25742353T>GCA346074824ASXL2c.3981A>C (p.Arg1327Ser)
c.3984A>C (p.Arg1328Ser)
c.3900A>C (p.Arg1300Ser)
c.2433A>C (p.Arg811Ser)
c.3618A>C (p.Arg1206Ser)
c.3204A>C (p.Arg1068Ser)
c.3810A>C (p.Arg1270Ser)
c.4164A>C (p.Arg1388Ser)
2g.25742354C>ACA346074828ASXL2c.3980G>T (p.Arg1327Ile)
c.3983G>T (p.Arg1328Ile)
c.3899G>T (p.Arg1300Ile)
c.2432G>T (p.Arg811Ile)
c.3617G>T (p.Arg1206Ile)
c.3203G>T (p.Arg1068Ile)
c.3809G>T (p.Arg1270Ile)
c.4163G>T (p.Arg1388Ile)
2g.25742354C=CA1239490423ASXL2c.3980G= (p.Arg1327=)
c.3983G= (p.Arg1328=)
c.3899G= (p.Arg1300=)
c.2432G= (p.Arg811=)
c.3617G= (p.Arg1206=)
c.3203G= (p.Arg1068=)
c.3809G= (p.Arg1270=)
c.4163G= (p.Arg1388=)
2g.25742354C>GCA346074830ASXL2c.3980G>C (p.Arg1327Thr)
c.3983G>C (p.Arg1328Thr)
c.3899G>C (p.Arg1300Thr)
c.2432G>C (p.Arg811Thr)
c.3617G>C (p.Arg1206Thr)
c.3203G>C (p.Arg1068Thr)
c.3809G>C (p.Arg1270Thr)
c.4163G>C (p.Arg1388Thr)
2g.25742354C>TCA346074831ASXL2c.3980G>A (p.Arg1327Lys)
c.3983G>A (p.Arg1328Lys)
c.3899G>A (p.Arg1300Lys)
c.2432G>A (p.Arg811Lys)
c.3617G>A (p.Arg1206Lys)
c.3203G>A (p.Arg1068Lys)
c.3809G>A (p.Arg1270Lys)
c.4163G>A (p.Arg1388Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742355T>ACA346074834ASXL2c.3979A>T (p.Arg1327Ter)
c.3982A>T (p.Arg1328Ter)
c.3898A>T (p.Arg1300Ter)
c.2431A>T (p.Arg811Ter)
c.3616A>T (p.Arg1206Ter)
c.3202A>T (p.Arg1068Ter)
c.3808A>T (p.Arg1270Ter)
c.4162A>T (p.Arg1388Ter)
2g.25742355T>CCA346074836ASXL2c.3979A>G (p.Arg1327Gly)
c.3982A>G (p.Arg1328Gly)
c.3898A>G (p.Arg1300Gly)
c.2431A>G (p.Arg811Gly)
c.3616A>G (p.Arg1206Gly)
c.3202A>G (p.Arg1068Gly)
c.3808A>G (p.Arg1270Gly)
c.4162A>G (p.Arg1388Gly)
2g.25742355T>GCA425354667ASXL2c.3979A>C (p.Arg1327=)
c.3982A>C (p.Arg1328=)
c.3898A>C (p.Arg1300=)
c.2431A>C (p.Arg811=)
c.3616A>C (p.Arg1206=)
c.3202A>C (p.Arg1068=)
c.3808A>C (p.Arg1270=)
c.4162A>C (p.Arg1388=)
2g.25742355dupCA531761029ASXL2c.3979dup (p.Arg1327LysfsTer11)
c.3982dup (p.Arg1328LysfsTer11)
c.3898dup (p.Arg1300LysfsTer11)
c.2431dup (p.Arg811LysfsTer11)
c.3616dup (p.Arg1206LysfsTer11)
c.3202dup (p.Arg1068LysfsTer11)
c.3808dup (p.Arg1270LysfsTer11)
c.4162dup (p.Arg1388LysfsTer11)
 dbSNP gnomAD v2 gnomAD v4
2g.25742356A>CCA346074838ASXL2c.3978T>G (p.Tyr1326Ter)
c.3981T>G (p.Tyr1327Ter)
c.3897T>G (p.Tyr1299Ter)
c.2430T>G (p.Tyr810Ter)
c.3615T>G (p.Tyr1205Ter)
c.3201T>G (p.Tyr1067Ter)
c.3807T>G (p.Tyr1269Ter)
c.4161T>G (p.Tyr1387Ter)
2g.25742356A>GCA425354670ASXL2c.3978T>C (p.Tyr1326=)
c.3981T>C (p.Tyr1327=)
c.3897T>C (p.Tyr1299=)
c.2430T>C (p.Tyr810=)
c.3615T>C (p.Tyr1205=)
c.3201T>C (p.Tyr1067=)
c.3807T>C (p.Tyr1269=)
c.4161T>C (p.Tyr1387=)
2g.25742356A>TCA346074840ASXL2c.3978T>A (p.Tyr1326Ter)
c.3981T>A (p.Tyr1327Ter)
c.3897T>A (p.Tyr1299Ter)
c.2430T>A (p.Tyr810Ter)
c.3615T>A (p.Tyr1205Ter)
c.3201T>A (p.Tyr1067Ter)
c.3807T>A (p.Tyr1269Ter)
c.4161T>A (p.Tyr1387Ter)
2g.25742357T>ACA346074844ASXL2c.3977A>T (p.Tyr1326Phe)
c.3980A>T (p.Tyr1327Phe)
c.3896A>T (p.Tyr1299Phe)
c.2429A>T (p.Tyr810Phe)
c.3614A>T (p.Tyr1205Phe)
c.3200A>T (p.Tyr1067Phe)
c.3806A>T (p.Tyr1269Phe)
c.4160A>T (p.Tyr1387Phe)
2g.25742357T>CCA346074846ASXL2c.3977A>G (p.Tyr1326Cys)
c.3980A>G (p.Tyr1327Cys)
c.3896A>G (p.Tyr1299Cys)
c.2429A>G (p.Tyr810Cys)
c.3614A>G (p.Tyr1205Cys)
c.3200A>G (p.Tyr1067Cys)
c.3806A>G (p.Tyr1269Cys)
c.4160A>G (p.Tyr1387Cys)
 dbSNP
2g.25742357T>GCA346074849ASXL2c.3977A>C (p.Tyr1326Ser)
c.3980A>C (p.Tyr1327Ser)
c.3896A>C (p.Tyr1299Ser)
c.2429A>C (p.Tyr810Ser)
c.3614A>C (p.Tyr1205Ser)
c.3200A>C (p.Tyr1067Ser)
c.3806A>C (p.Tyr1269Ser)
c.4160A>C (p.Tyr1387Ser)
2g.25742357T=CA1239490424ASXL2c.3977A= (p.Tyr1326=)
c.3980A= (p.Tyr1327=)
c.3896A= (p.Tyr1299=)
c.2429A= (p.Tyr810=)
c.3614A= (p.Tyr1205=)
c.3200A= (p.Tyr1067=)
c.3806A= (p.Tyr1269=)
c.4160A= (p.Tyr1387=)
2g.25742358A>CCA346074854ASXL2c.3976T>G (p.Tyr1326Asp)
c.3979T>G (p.Tyr1327Asp)
c.3895T>G (p.Tyr1299Asp)
c.2428T>G (p.Tyr810Asp)
c.3613T>G (p.Tyr1205Asp)
c.3199T>G (p.Tyr1067Asp)
c.3805T>G (p.Tyr1269Asp)
c.4159T>G (p.Tyr1387Asp)
2g.25742358A>GCA346074856ASXL2c.3976T>C (p.Tyr1326His)
c.3979T>C (p.Tyr1327His)
c.3895T>C (p.Tyr1299His)
c.2428T>C (p.Tyr810His)
c.3613T>C (p.Tyr1205His)
c.3199T>C (p.Tyr1067His)
c.3805T>C (p.Tyr1269His)
c.4159T>C (p.Tyr1387His)
 gnomAD v4
2g.25742358A>TCA346074855ASXL2c.3976T>A (p.Tyr1326Asn)
c.3979T>A (p.Tyr1327Asn)
c.3895T>A (p.Tyr1299Asn)
c.2428T>A (p.Tyr810Asn)
c.3613T>A (p.Tyr1205Asn)
c.3199T>A (p.Tyr1067Asn)
c.3805T>A (p.Tyr1269Asn)
c.4159T>A (p.Tyr1387Asn)
 gnomAD v4
2g.25742359G>ACA425354683ASXL2c.3975C>T (p.Ser1325=)
c.3978C>T (p.Ser1326=)
c.3894C>T (p.Ser1298=)
c.2427C>T (p.Ser809=)
c.3612C>T (p.Ser1204=)
c.3198C>T (p.Ser1066=)
c.3804C>T (p.Ser1268=)
c.4158C>T (p.Ser1386=)
2g.25742359G>CCA346074860ASXL2c.3975C>G (p.Ser1325Arg)
c.3978C>G (p.Ser1326Arg)
c.3894C>G (p.Ser1298Arg)
c.2427C>G (p.Ser809Arg)
c.3612C>G (p.Ser1204Arg)
c.3198C>G (p.Ser1066Arg)
c.3804C>G (p.Ser1268Arg)
c.4158C>G (p.Ser1386Arg)
2g.25742359G>TCA346074862ASXL2c.3975C>A (p.Ser1325Arg)
c.3978C>A (p.Ser1326Arg)
c.3894C>A (p.Ser1298Arg)
c.2427C>A (p.Ser809Arg)
c.3612C>A (p.Ser1204Arg)
c.3198C>A (p.Ser1066Arg)
c.3804C>A (p.Ser1268Arg)
c.4158C>A (p.Ser1386Arg)
2g.25742360C>ACA346074865ASXL2c.3974G>T (p.Ser1325Ile)
c.3977G>T (p.Ser1326Ile)
c.3893G>T (p.Ser1298Ile)
c.2426G>T (p.Ser809Ile)
c.3611G>T (p.Ser1204Ile)
c.3197G>T (p.Ser1066Ile)
c.3803G>T (p.Ser1268Ile)
c.4157G>T (p.Ser1386Ile)
2g.25742360C>GCA346074867ASXL2c.3974G>C (p.Ser1325Thr)
c.3977G>C (p.Ser1326Thr)
c.3893G>C (p.Ser1298Thr)
c.2426G>C (p.Ser809Thr)
c.3611G>C (p.Ser1204Thr)
c.3197G>C (p.Ser1066Thr)
c.3803G>C (p.Ser1268Thr)
c.4157G>C (p.Ser1386Thr)
 gnomAD v4
2g.25742360C>TCA346074869ASXL2c.3974G>A (p.Ser1325Asn)
c.3977G>A (p.Ser1326Asn)
c.3893G>A (p.Ser1298Asn)
c.2426G>A (p.Ser809Asn)
c.3611G>A (p.Ser1204Asn)
c.3197G>A (p.Ser1066Asn)
c.3803G>A (p.Ser1268Asn)
c.4157G>A (p.Ser1386Asn)
2g.25742361T>ACA346074873ASXL2c.3973A>T (p.Ser1325Cys)
c.3976A>T (p.Ser1326Cys)
c.3892A>T (p.Ser1298Cys)
c.2425A>T (p.Ser809Cys)
c.3610A>T (p.Ser1204Cys)
c.3196A>T (p.Ser1066Cys)
c.3802A>T (p.Ser1268Cys)
c.4156A>T (p.Ser1386Cys)
2g.25742361T>CCA346074875ASXL2c.3973A>G (p.Ser1325Gly)
c.3976A>G (p.Ser1326Gly)
c.3892A>G (p.Ser1298Gly)
c.2425A>G (p.Ser809Gly)
c.3610A>G (p.Ser1204Gly)
c.3196A>G (p.Ser1066Gly)
c.3802A>G (p.Ser1268Gly)
c.4156A>G (p.Ser1386Gly)
2g.25742361T>GCA346074877ASXL2c.3973A>C (p.Ser1325Arg)
c.3976A>C (p.Ser1326Arg)
c.3892A>C (p.Ser1298Arg)
c.2425A>C (p.Ser809Arg)
c.3610A>C (p.Ser1204Arg)
c.3196A>C (p.Ser1066Arg)
c.3802A>C (p.Ser1268Arg)
c.4156A>C (p.Ser1386Arg)
2g.25742362T>ACA425354685ASXL2c.3972A>T (p.Pro1324=)
c.3975A>T (p.Pro1325=)
c.3891A>T (p.Pro1297=)
c.2424A>T (p.Pro808=)
c.3609A>T (p.Pro1203=)
c.3195A>T (p.Pro1065=)
c.3801A>T (p.Pro1267=)
c.4155A>T (p.Pro1385=)
2g.25742362T>CCA1557384ASXL2c.3972A>G (p.Pro1324=)
c.3975A>G (p.Pro1325=)
c.3891A>G (p.Pro1297=)
c.2424A>G (p.Pro808=)
c.3609A>G (p.Pro1203=)
c.3195A>G (p.Pro1065=)
c.3801A>G (p.Pro1267=)
c.4155A>G (p.Pro1385=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742362T>GCA425354689ASXL2c.3972A>C (p.Pro1324=)
c.3975A>C (p.Pro1325=)
c.3891A>C (p.Pro1297=)
c.2424A>C (p.Pro808=)
c.3609A>C (p.Pro1203=)
c.3195A>C (p.Pro1065=)
c.3801A>C (p.Pro1267=)
c.4155A>C (p.Pro1385=)
2g.25742362T=CA1239490425ASXL2c.3972A= (p.Pro1324=)
c.3975A= (p.Pro1325=)
c.3891A= (p.Pro1297=)
c.2424A= (p.Pro808=)
c.3609A= (p.Pro1203=)
c.3195A= (p.Pro1065=)
c.3801A= (p.Pro1267=)
c.4155A= (p.Pro1385=)
2g.25742363G>ACA346074881ASXL2c.3971C>T (p.Pro1324Leu)
c.3974C>T (p.Pro1325Leu)
c.3890C>T (p.Pro1297Leu)
c.2423C>T (p.Pro808Leu)
c.3608C>T (p.Pro1203Leu)
c.3194C>T (p.Pro1065Leu)
c.3800C>T (p.Pro1267Leu)
c.4154C>T (p.Pro1385Leu)
 gnomAD v4
2g.25742363G>CCA1557385ASXL2c.3971C>G (p.Pro1324Arg)
c.3974C>G (p.Pro1325Arg)
c.3890C>G (p.Pro1297Arg)
c.2423C>G (p.Pro808Arg)
c.3608C>G (p.Pro1203Arg)
c.3194C>G (p.Pro1065Arg)
c.3800C>G (p.Pro1267Arg)
c.4154C>G (p.Pro1385Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742363G=CA1239490426ASXL2c.3971C= (p.Pro1324=)
c.3974C= (p.Pro1325=)
c.3890C= (p.Pro1297=)
c.2423C= (p.Pro808=)
c.3608C= (p.Pro1203=)
c.3194C= (p.Pro1065=)
c.3800C= (p.Pro1267=)
c.4154C= (p.Pro1385=)
2g.25742363G>TCA346074897ASXL2c.3971C>A (p.Pro1324Gln)
c.3974C>A (p.Pro1325Gln)
c.3890C>A (p.Pro1297Gln)
c.2423C>A (p.Pro808Gln)
c.3608C>A (p.Pro1203Gln)
c.3194C>A (p.Pro1065Gln)
c.3800C>A (p.Pro1267Gln)
c.4154C>A (p.Pro1385Gln)
2g.25742364G>ACA1557386ASXL2c.3970C>T (p.Pro1324Ser)
c.3973C>T (p.Pro1325Ser)
c.3889C>T (p.Pro1297Ser)
c.2422C>T (p.Pro808Ser)
c.3607C>T (p.Pro1203Ser)
c.3193C>T (p.Pro1065Ser)
c.3799C>T (p.Pro1267Ser)
c.4153C>T (p.Pro1385Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742364G>CCA346074908ASXL2c.3970C>G (p.Pro1324Ala)
c.3973C>G (p.Pro1325Ala)
c.3889C>G (p.Pro1297Ala)
c.2422C>G (p.Pro808Ala)
c.3607C>G (p.Pro1203Ala)
c.3193C>G (p.Pro1065Ala)
c.3799C>G (p.Pro1267Ala)
c.4153C>G (p.Pro1385Ala)
 gnomAD v4
2g.25742364G=CA1239490427ASXL2c.3970C= (p.Pro1324=)
c.3973C= (p.Pro1325=)
c.3889C= (p.Pro1297=)
c.2422C= (p.Pro808=)
c.3607C= (p.Pro1203=)
c.3193C= (p.Pro1065=)
c.3799C= (p.Pro1267=)
c.4153C= (p.Pro1385=)
2g.25742364G>TCA346074905ASXL2c.3970C>A (p.Pro1324Thr)
c.3973C>A (p.Pro1325Thr)
c.3889C>A (p.Pro1297Thr)
c.2422C>A (p.Pro808Thr)
c.3607C>A (p.Pro1203Thr)
c.3193C>A (p.Pro1065Thr)
c.3799C>A (p.Pro1267Thr)
c.4153C>A (p.Pro1385Thr)
2g.25742365C>ACA425354692ASXL2c.3969G>T (p.Gly1323=)
c.3972G>T (p.Gly1324=)
c.3888G>T (p.Gly1296=)
c.2421G>T (p.Gly807=)
c.3606G>T (p.Gly1202=)
c.3192G>T (p.Gly1064=)
c.3798G>T (p.Gly1266=)
c.4152G>T (p.Gly1384=)
2g.25742365C>GCA425354693ASXL2c.3969G>C (p.Gly1323=)
c.3972G>C (p.Gly1324=)
c.3888G>C (p.Gly1296=)
c.2421G>C (p.Gly807=)
c.3606G>C (p.Gly1202=)
c.3192G>C (p.Gly1064=)
c.3798G>C (p.Gly1266=)
c.4152G>C (p.Gly1384=)
2g.25742365C>TCA425354694ASXL2c.3969G>A (p.Gly1323=)
c.3972G>A (p.Gly1324=)
c.3888G>A (p.Gly1296=)
c.2421G>A (p.Gly807=)
c.3606G>A (p.Gly1202=)
c.3192G>A (p.Gly1064=)
c.3798G>A (p.Gly1266=)
c.4152G>A (p.Gly1384=)
2g.25742366C>ACA346074911ASXL2c.3968G>T (p.Gly1323Val)
c.3971G>T (p.Gly1324Val)
c.3887G>T (p.Gly1296Val)
c.2420G>T (p.Gly807Val)
c.3605G>T (p.Gly1202Val)
c.3191G>T (p.Gly1064Val)
c.3797G>T (p.Gly1266Val)
c.4151G>T (p.Gly1384Val)
2g.25742366C=CA1239490428ASXL2c.3968G= (p.Gly1323=)
c.3971G= (p.Gly1324=)
c.3887G= (p.Gly1296=)
c.2420G= (p.Gly807=)
c.3605G= (p.Gly1202=)
c.3191G= (p.Gly1064=)
c.3797G= (p.Gly1266=)
c.4151G= (p.Gly1384=)
2g.25742366C>GCA346074915ASXL2c.3968G>C (p.Gly1323Ala)
c.3971G>C (p.Gly1324Ala)
c.3887G>C (p.Gly1296Ala)
c.2420G>C (p.Gly807Ala)
c.3605G>C (p.Gly1202Ala)
c.3191G>C (p.Gly1064Ala)
c.3797G>C (p.Gly1266Ala)
c.4151G>C (p.Gly1384Ala)
 gnomAD v4
2g.25742366C>TCA1557387ASXL2c.3968G>A (p.Gly1323Glu)
c.3971G>A (p.Gly1324Glu)
c.3887G>A (p.Gly1296Glu)
c.2420G>A (p.Gly807Glu)
c.3605G>A (p.Gly1202Glu)
c.3191G>A (p.Gly1064Glu)
c.3797G>A (p.Gly1266Glu)
c.4151G>A (p.Gly1384Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742367C>ACA346074921ASXL2c.3967G>T (p.Gly1323Trp)
c.3970G>T (p.Gly1324Trp)
c.3886G>T (p.Gly1296Trp)
c.2419G>T (p.Gly807Trp)
c.3604G>T (p.Gly1202Trp)
c.3190G>T (p.Gly1064Trp)
c.3796G>T (p.Gly1266Trp)
c.4150G>T (p.Gly1384Trp)
2g.25742367C>GCA346074926ASXL2c.3967G>C (p.Gly1323Arg)
c.3970G>C (p.Gly1324Arg)
c.3886G>C (p.Gly1296Arg)
c.2419G>C (p.Gly807Arg)
c.3604G>C (p.Gly1202Arg)
c.3190G>C (p.Gly1064Arg)
c.3796G>C (p.Gly1266Arg)
c.4150G>C (p.Gly1384Arg)
2g.25742367C>TCA346074929ASXL2c.3967G>A (p.Gly1323Arg)
c.3970G>A (p.Gly1324Arg)
c.3886G>A (p.Gly1296Arg)
c.2419G>A (p.Gly807Arg)
c.3604G>A (p.Gly1202Arg)
c.3190G>A (p.Gly1064Arg)
c.3796G>A (p.Gly1266Arg)
c.4150G>A (p.Gly1384Arg)
2g.25742368T>ACA425354698ASXL2c.3966A>T (p.Ile1322=)
c.3969A>T (p.Ile1323=)
c.3885A>T (p.Ile1295=)
c.2418A>T (p.Ile806=)
c.3603A>T (p.Ile1201=)
c.3189A>T (p.Ile1063=)
c.3795A>T (p.Ile1265=)
c.4149A>T (p.Ile1383=)
2g.25742368T>CCA346074935ASXL2c.3966A>G (p.Ile1322Met)
c.3969A>G (p.Ile1323Met)
c.3885A>G (p.Ile1295Met)
c.2418A>G (p.Ile806Met)
c.3603A>G (p.Ile1201Met)
c.3189A>G (p.Ile1063Met)
c.3795A>G (p.Ile1265Met)
c.4149A>G (p.Ile1383Met)
 gnomAD v4
2g.25742368T>GCA425354700ASXL2c.3966A>C (p.Ile1322=)
c.3969A>C (p.Ile1323=)
c.3885A>C (p.Ile1295=)
c.2418A>C (p.Ile806=)
c.3603A>C (p.Ile1201=)
c.3189A>C (p.Ile1063=)
c.3795A>C (p.Ile1265=)
c.4149A>C (p.Ile1383=)
2g.25742369A>CCA346074937ASXL2c.3965T>G (p.Ile1322Arg)
c.3968T>G (p.Ile1323Arg)
c.3884T>G (p.Ile1295Arg)
c.2417T>G (p.Ile806Arg)
c.3602T>G (p.Ile1201Arg)
c.3188T>G (p.Ile1063Arg)
c.3794T>G (p.Ile1265Arg)
c.4148T>G (p.Ile1383Arg)
2g.25742369A>GCA346074940ASXL2c.3965T>C (p.Ile1322Thr)
c.3968T>C (p.Ile1323Thr)
c.3884T>C (p.Ile1295Thr)
c.2417T>C (p.Ile806Thr)
c.3602T>C (p.Ile1201Thr)
c.3188T>C (p.Ile1063Thr)
c.3794T>C (p.Ile1265Thr)
c.4148T>C (p.Ile1383Thr)
2g.25742369A>TCA346074944ASXL2c.3965T>A (p.Ile1322Lys)
c.3968T>A (p.Ile1323Lys)
c.3884T>A (p.Ile1295Lys)
c.2417T>A (p.Ile806Lys)
c.3602T>A (p.Ile1201Lys)
c.3188T>A (p.Ile1063Lys)
c.3794T>A (p.Ile1265Lys)
c.4148T>A (p.Ile1383Lys)
2g.25742370T>ACA43734244ASXL2c.3964A>T (p.Ile1322Leu)
c.3967A>T (p.Ile1323Leu)
c.3883A>T (p.Ile1295Leu)
c.2416A>T (p.Ile806Leu)
c.3601A>T (p.Ile1201Leu)
c.3187A>T (p.Ile1063Leu)
c.3793A>T (p.Ile1265Leu)
c.4147A>T (p.Ile1383Leu)
 dbSNP gnomAD v2
2g.25742370T>CCA346074950ASXL2c.3964A>G (p.Ile1322Val)
c.3967A>G (p.Ile1323Val)
c.3883A>G (p.Ile1295Val)
c.2416A>G (p.Ile806Val)
c.3601A>G (p.Ile1201Val)
c.3187A>G (p.Ile1063Val)
c.3793A>G (p.Ile1265Val)
c.4147A>G (p.Ile1383Val)
2g.25742370T>GCA346074954ASXL2c.3964A>C (p.Ile1322Leu)
c.3967A>C (p.Ile1323Leu)
c.3883A>C (p.Ile1295Leu)
c.2416A>C (p.Ile806Leu)
c.3601A>C (p.Ile1201Leu)
c.3187A>C (p.Ile1063Leu)
c.3793A>C (p.Ile1265Leu)
c.4147A>C (p.Ile1383Leu)
2g.25742370T=CA1239490429ASXL2c.3964A= (p.Ile1322=)
c.3967A= (p.Ile1323=)
c.3883A= (p.Ile1295=)
c.2416A= (p.Ile806=)
c.3601A= (p.Ile1201=)
c.3187A= (p.Ile1063=)
c.3793A= (p.Ile1265=)
c.4147A= (p.Ile1383=)
2g.25742371C>ACA346074958ASXL2c.3963G>T (p.Gln1321His)
c.3966G>T (p.Gln1322His)
c.3882G>T (p.Gln1294His)
c.2415G>T (p.Gln805His)
c.3600G>T (p.Gln1200His)
c.3186G>T (p.Gln1062His)
c.3792G>T (p.Gln1264His)
c.4146G>T (p.Gln1382His)
2g.25742371C=CA1239490430ASXL2c.3963G= (p.Gln1321=)
c.3966G= (p.Gln1322=)
c.3882G= (p.Gln1294=)
c.2415G= (p.Gln805=)
c.3600G= (p.Gln1200=)
c.3186G= (p.Gln1062=)
c.3792G= (p.Gln1264=)
c.4146G= (p.Gln1382=)
2g.25742371C>GCA43734245ASXL2c.3963G>C (p.Gln1321His)
c.3966G>C (p.Gln1322His)
c.3882G>C (p.Gln1294His)
c.2415G>C (p.Gln805His)
c.3600G>C (p.Gln1200His)
c.3186G>C (p.Gln1062His)
c.3792G>C (p.Gln1264His)
c.4146G>C (p.Gln1382His)
 dbSNP COSMIC COSMIC
2g.25742371C>TCA425354707ASXL2c.3963G>A (p.Gln1321=)
c.3966G>A (p.Gln1322=)
c.3882G>A (p.Gln1294=)
c.2415G>A (p.Gln805=)
c.3600G>A (p.Gln1200=)
c.3186G>A (p.Gln1062=)
c.3792G>A (p.Gln1264=)
c.4146G>A (p.Gln1382=)
 COSMIC COSMIC
2g.25742372T>ACA346074962ASXL2c.3962A>T (p.Gln1321Leu)
c.3965A>T (p.Gln1322Leu)
c.3881A>T (p.Gln1294Leu)
c.2414A>T (p.Gln805Leu)
c.3599A>T (p.Gln1200Leu)
c.3185A>T (p.Gln1062Leu)
c.3791A>T (p.Gln1264Leu)
c.4145A>T (p.Gln1382Leu)
2g.25742372T>CCA346074966ASXL2c.3962A>G (p.Gln1321Arg)
c.3965A>G (p.Gln1322Arg)
c.3881A>G (p.Gln1294Arg)
c.2414A>G (p.Gln805Arg)
c.3599A>G (p.Gln1200Arg)
c.3185A>G (p.Gln1062Arg)
c.3791A>G (p.Gln1264Arg)
c.4145A>G (p.Gln1382Arg)
2g.25742372T>GCA346074969ASXL2c.3962A>C (p.Gln1321Pro)
c.3965A>C (p.Gln1322Pro)
c.3881A>C (p.Gln1294Pro)
c.2414A>C (p.Gln805Pro)
c.3599A>C (p.Gln1200Pro)
c.3185A>C (p.Gln1062Pro)
c.3791A>C (p.Gln1264Pro)
c.4145A>C (p.Gln1382Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.25742372T=CA1239490431ASXL2c.3962A= (p.Gln1321=)
c.3965A= (p.Gln1322=)
c.3881A= (p.Gln1294=)
c.2414A= (p.Gln805=)
c.3599A= (p.Gln1200=)
c.3185A= (p.Gln1062=)
c.3791A= (p.Gln1264=)
c.4145A= (p.Gln1382=)
2g.25742373G>ACA346074973ASXL2c.3961C>T (p.Gln1321Ter)
c.3964C>T (p.Gln1322Ter)
c.3880C>T (p.Gln1294Ter)
c.2413C>T (p.Gln805Ter)
c.3598C>T (p.Gln1200Ter)
c.3184C>T (p.Gln1062Ter)
c.3790C>T (p.Gln1264Ter)
c.4144C>T (p.Gln1382Ter)
2g.25742373G>CCA346074976ASXL2c.3961C>G (p.Gln1321Glu)
c.3964C>G (p.Gln1322Glu)
c.3880C>G (p.Gln1294Glu)
c.2413C>G (p.Gln805Glu)
c.3598C>G (p.Gln1200Glu)
c.3184C>G (p.Gln1062Glu)
c.3790C>G (p.Gln1264Glu)
c.4144C>G (p.Gln1382Glu)
2g.25742373G=CA1239490432ASXL2c.3961C= (p.Gln1321=)
c.3964C= (p.Gln1322=)
c.3880C= (p.Gln1294=)
c.2413C= (p.Gln805=)
c.3598C= (p.Gln1200=)
c.3184C= (p.Gln1062=)
c.3790C= (p.Gln1264=)
c.4144C= (p.Gln1382=)
2g.25742373G>TCA346074978ASXL2c.3961C>A (p.Gln1321Lys)
c.3964C>A (p.Gln1322Lys)
c.3880C>A (p.Gln1294Lys)
c.2413C>A (p.Gln805Lys)
c.3598C>A (p.Gln1200Lys)
c.3184C>A (p.Gln1062Lys)
c.3790C>A (p.Gln1264Lys)
c.4144C>A (p.Gln1382Lys)
 dbSNP
2g.25742374G>ACA425354719ASXL2c.3960C>T (p.Thr1320=)
c.3963C>T (p.Thr1321=)
c.3879C>T (p.Thr1293=)
c.2412C>T (p.Thr804=)
c.3597C>T (p.Thr1199=)
c.3183C>T (p.Thr1061=)
c.3789C>T (p.Thr1263=)
c.4143C>T (p.Thr1381=)
 dbSNP gnomAD v2 gnomAD v4
2g.25742374G>CCA425354720ASXL2c.3960C>G (p.Thr1320=)
c.3963C>G (p.Thr1321=)
c.3879C>G (p.Thr1293=)
c.2412C>G (p.Thr804=)
c.3597C>G (p.Thr1199=)
c.3183C>G (p.Thr1061=)
c.3789C>G (p.Thr1263=)
c.4143C>G (p.Thr1381=)
2g.25742374G=CA1239490433ASXL2c.3960C= (p.Thr1320=)
c.3963C= (p.Thr1321=)
c.3879C= (p.Thr1293=)
c.2412C= (p.Thr804=)
c.3597C= (p.Thr1199=)
c.3183C= (p.Thr1061=)
c.3789C= (p.Thr1263=)
c.4143C= (p.Thr1381=)
2g.25742374G>TCA425354723ASXL2c.3960C>A (p.Thr1320=)
c.3963C>A (p.Thr1321=)
c.3879C>A (p.Thr1293=)
c.2412C>A (p.Thr804=)
c.3597C>A (p.Thr1199=)
c.3183C>A (p.Thr1061=)
c.3789C>A (p.Thr1263=)
c.4143C>A (p.Thr1381=)
 dbSNP gnomAD v2 gnomAD v4
2g.25742375G>ACA346074983ASXL2c.3959C>T (p.Thr1320Ile)
c.3962C>T (p.Thr1321Ile)
c.3878C>T (p.Thr1293Ile)
c.2411C>T (p.Thr804Ile)
c.3596C>T (p.Thr1199Ile)
c.3182C>T (p.Thr1061Ile)
c.3788C>T (p.Thr1263Ile)
c.4142C>T (p.Thr1381Ile)
 gnomAD v4
2g.25742375G>CCA346074986ASXL2c.3959C>G (p.Thr1320Ser)
c.3962C>G (p.Thr1321Ser)
c.3878C>G (p.Thr1293Ser)
c.2411C>G (p.Thr804Ser)
c.3596C>G (p.Thr1199Ser)
c.3182C>G (p.Thr1061Ser)
c.3788C>G (p.Thr1263Ser)
c.4142C>G (p.Thr1381Ser)
2g.25742375G=CA1239490434ASXL2c.3959C= (p.Thr1320=)
c.3962C= (p.Thr1321=)
c.3878C= (p.Thr1293=)
c.2411C= (p.Thr804=)
c.3596C= (p.Thr1199=)
c.3182C= (p.Thr1061=)
c.3788C= (p.Thr1263=)
c.4142C= (p.Thr1381=)
2g.25742375G>TCA1557388ASXL2c.3959C>A (p.Thr1320Asn)
c.3962C>A (p.Thr1321Asn)
c.3878C>A (p.Thr1293Asn)
c.2411C>A (p.Thr804Asn)
c.3596C>A (p.Thr1199Asn)
c.3182C>A (p.Thr1061Asn)
c.3788C>A (p.Thr1263Asn)
c.4142C>A (p.Thr1381Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742376T>ACA346074992ASXL2c.3958A>T (p.Thr1320Ser)
c.3961A>T (p.Thr1321Ser)
c.3877A>T (p.Thr1293Ser)
c.2410A>T (p.Thr804Ser)
c.3595A>T (p.Thr1199Ser)
c.3181A>T (p.Thr1061Ser)
c.3787A>T (p.Thr1263Ser)
c.4141A>T (p.Thr1381Ser)
2g.25742376T>CCA346074995ASXL2c.3958A>G (p.Thr1320Ala)
c.3961A>G (p.Thr1321Ala)
c.3877A>G (p.Thr1293Ala)
c.2410A>G (p.Thr804Ala)
c.3595A>G (p.Thr1199Ala)
c.3181A>G (p.Thr1061Ala)
c.3787A>G (p.Thr1263Ala)
c.4141A>G (p.Thr1381Ala)
2g.25742376T>GCA43734250ASXL2c.3958A>C (p.Thr1320Pro)
c.3961A>C (p.Thr1321Pro)
c.3877A>C (p.Thr1293Pro)
c.2410A>C (p.Thr804Pro)
c.3595A>C (p.Thr1199Pro)
c.3181A>C (p.Thr1061Pro)
c.3787A>C (p.Thr1263Pro)
c.4141A>C (p.Thr1381Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.25742376T=CA1239490435ASXL2c.3958A= (p.Thr1320=)
c.3961A= (p.Thr1321=)
c.3877A= (p.Thr1293=)
c.2410A= (p.Thr804=)
c.3595A= (p.Thr1199=)
c.3181A= (p.Thr1061=)
c.3787A= (p.Thr1263=)
c.4141A= (p.Thr1381=)
2g.25742377G>ACA425354729ASXL2c.3957C>T (p.Pro1319=)
c.3960C>T (p.Pro1320=)
c.3876C>T (p.Pro1292=)
c.2409C>T (p.Pro803=)
c.3594C>T (p.Pro1198=)
c.3180C>T (p.Pro1060=)
c.3786C>T (p.Pro1262=)
c.4140C>T (p.Pro1380=)
2g.25742377G>CCA425354731ASXL2c.3957C>G (p.Pro1319=)
c.3960C>G (p.Pro1320=)
c.3876C>G (p.Pro1292=)
c.2409C>G (p.Pro803=)
c.3594C>G (p.Pro1198=)
c.3180C>G (p.Pro1060=)
c.3786C>G (p.Pro1262=)
c.4140C>G (p.Pro1380=)
2g.25742377G>TCA425354734ASXL2c.3957C>A (p.Pro1319=)
c.3960C>A (p.Pro1320=)
c.3876C>A (p.Pro1292=)
c.2409C>A (p.Pro803=)
c.3594C>A (p.Pro1198=)
c.3180C>A (p.Pro1060=)
c.3786C>A (p.Pro1262=)
c.4140C>A (p.Pro1380=)
2g.25742378G>ACA346075002ASXL2c.3956C>T (p.Pro1319Leu)
c.3959C>T (p.Pro1320Leu)
c.3875C>T (p.Pro1292Leu)
c.2408C>T (p.Pro803Leu)
c.3593C>T (p.Pro1198Leu)
c.3179C>T (p.Pro1060Leu)
c.3785C>T (p.Pro1262Leu)
c.4139C>T (p.Pro1380Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742378G>CCA346075008ASXL2c.3956C>G (p.Pro1319Arg)
c.3959C>G (p.Pro1320Arg)
c.3875C>G (p.Pro1292Arg)
c.2408C>G (p.Pro803Arg)
c.3593C>G (p.Pro1198Arg)
c.3179C>G (p.Pro1060Arg)
c.3785C>G (p.Pro1262Arg)
c.4139C>G (p.Pro1380Arg)
2g.25742378G=CA1239490436ASXL2c.3956C= (p.Pro1319=)
c.3959C= (p.Pro1320=)
c.3875C= (p.Pro1292=)
c.2408C= (p.Pro803=)
c.3593C= (p.Pro1198=)
c.3179C= (p.Pro1060=)
c.3785C= (p.Pro1262=)
c.4139C= (p.Pro1380=)
2g.25742378G>TCA346075007ASXL2c.3956C>A (p.Pro1319His)
c.3959C>A (p.Pro1320His)
c.3875C>A (p.Pro1292His)
c.2408C>A (p.Pro803His)
c.3593C>A (p.Pro1198His)
c.3179C>A (p.Pro1060His)
c.3785C>A (p.Pro1262His)
c.4139C>A (p.Pro1380His)
2g.25742379G>ACA346075010ASXL2c.3955C>T (p.Pro1319Ser)
c.3958C>T (p.Pro1320Ser)
c.3874C>T (p.Pro1292Ser)
c.2407C>T (p.Pro803Ser)
c.3592C>T (p.Pro1198Ser)
c.3178C>T (p.Pro1060Ser)
c.3784C>T (p.Pro1262Ser)
c.4138C>T (p.Pro1380Ser)
 dbSNP gnomAD v4
2g.25742379G>CCA346075012ASXL2c.3955C>G (p.Pro1319Ala)
c.3958C>G (p.Pro1320Ala)
c.3874C>G (p.Pro1292Ala)
c.2407C>G (p.Pro803Ala)
c.3592C>G (p.Pro1198Ala)
c.3178C>G (p.Pro1060Ala)
c.3784C>G (p.Pro1262Ala)
c.4138C>G (p.Pro1380Ala)
2g.25742379G=CA1239490437ASXL2c.3955C= (p.Pro1319=)
c.3958C= (p.Pro1320=)
c.3874C= (p.Pro1292=)
c.2407C= (p.Pro803=)
c.3592C= (p.Pro1198=)
c.3178C= (p.Pro1060=)
c.3784C= (p.Pro1262=)
c.4138C= (p.Pro1380=)
2g.25742379G>TCA1557389ASXL2c.3955C>A (p.Pro1319Thr)
c.3958C>A (p.Pro1320Thr)
c.3874C>A (p.Pro1292Thr)
c.2407C>A (p.Pro803Thr)
c.3592C>A (p.Pro1198Thr)
c.3178C>A (p.Pro1060Thr)
c.3784C>A (p.Pro1262Thr)
c.4138C>A (p.Pro1380Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742380G>ACA425354739ASXL2c.3954C>T (p.Ser1318=)
c.3957C>T (p.Ser1319=)
c.3873C>T (p.Ser1291=)
c.2406C>T (p.Ser802=)
c.3591C>T (p.Ser1197=)
c.3177C>T (p.Ser1059=)
c.3783C>T (p.Ser1261=)
c.4137C>T (p.Ser1379=)
 dbSNP gnomAD v3 gnomAD v4
2g.25742380G>CCA346075020ASXL2c.3954C>G (p.Ser1318Arg)
c.3957C>G (p.Ser1319Arg)
c.3873C>G (p.Ser1291Arg)
c.2406C>G (p.Ser802Arg)
c.3591C>G (p.Ser1197Arg)
c.3177C>G (p.Ser1059Arg)
c.3783C>G (p.Ser1261Arg)
c.4137C>G (p.Ser1379Arg)
2g.25742380G=CA1239490438ASXL2c.3954C= (p.Ser1318=)
c.3957C= (p.Ser1319=)
c.3873C= (p.Ser1291=)
c.2406C= (p.Ser802=)
c.3591C= (p.Ser1197=)
c.3177C= (p.Ser1059=)
c.3783C= (p.Ser1261=)
c.4137C= (p.Ser1379=)
2g.25742380G>TCA346075022ASXL2c.3954C>A (p.Ser1318Arg)
c.3957C>A (p.Ser1319Arg)
c.3873C>A (p.Ser1291Arg)
c.2406C>A (p.Ser802Arg)
c.3591C>A (p.Ser1197Arg)
c.3177C>A (p.Ser1059Arg)
c.3783C>A (p.Ser1261Arg)
c.4137C>A (p.Ser1379Arg)
2g.25742381C>ACA346075033ASXL2c.3953G>T (p.Ser1318Ile)
c.3956G>T (p.Ser1319Ile)
c.3872G>T (p.Ser1291Ile)
c.2405G>T (p.Ser802Ile)
c.3590G>T (p.Ser1197Ile)
c.3176G>T (p.Ser1059Ile)
c.3782G>T (p.Ser1261Ile)
c.4136G>T (p.Ser1379Ile)
2g.25742381C>GCA346075029ASXL2c.3953G>C (p.Ser1318Thr)
c.3956G>C (p.Ser1319Thr)
c.3872G>C (p.Ser1291Thr)
c.2405G>C (p.Ser802Thr)
c.3590G>C (p.Ser1197Thr)
c.3176G>C (p.Ser1059Thr)
c.3782G>C (p.Ser1261Thr)
c.4136G>C (p.Ser1379Thr)
2g.25742381C>TCA346075027ASXL2c.3953G>A (p.Ser1318Asn)
c.3956G>A (p.Ser1319Asn)
c.3872G>A (p.Ser1291Asn)
c.2405G>A (p.Ser802Asn)
c.3590G>A (p.Ser1197Asn)
c.3176G>A (p.Ser1059Asn)
c.3782G>A (p.Ser1261Asn)
c.4136G>A (p.Ser1379Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.25742382T>ACA346075037ASXL2c.3952A>T (p.Ser1318Cys)
c.3955A>T (p.Ser1319Cys)
c.3871A>T (p.Ser1291Cys)
c.2404A>T (p.Ser802Cys)
c.3589A>T (p.Ser1197Cys)
c.3175A>T (p.Ser1059Cys)
c.3781A>T (p.Ser1261Cys)
c.4135A>T (p.Ser1379Cys)
2g.25742382T>CCA346075039ASXL2c.3952A>G (p.Ser1318Gly)
c.3955A>G (p.Ser1319Gly)
c.3871A>G (p.Ser1291Gly)
c.2404A>G (p.Ser802Gly)
c.3589A>G (p.Ser1197Gly)
c.3175A>G (p.Ser1059Gly)
c.3781A>G (p.Ser1261Gly)
c.4135A>G (p.Ser1379Gly)
2g.25742382T>GCA346075045ASXL2c.3952A>C (p.Ser1318Arg)
c.3955A>C (p.Ser1319Arg)
c.3871A>C (p.Ser1291Arg)
c.2404A>C (p.Ser802Arg)
c.3589A>C (p.Ser1197Arg)
c.3175A>C (p.Ser1059Arg)
c.3781A>C (p.Ser1261Arg)
c.4135A>C (p.Ser1379Arg)
2g.25742383T>ACA425354746ASXL2c.3951A>T (p.Gly1317=)
c.3954A>T (p.Gly1318=)
c.3870A>T (p.Gly1290=)
c.2403A>T (p.Gly801=)
c.3588A>T (p.Gly1196=)
c.3174A>T (p.Gly1058=)
c.3780A>T (p.Gly1260=)
c.4134A>T (p.Gly1378=)
2g.25742383T>CCA425354747ASXL2c.3951A>G (p.Gly1317=)
c.3954A>G (p.Gly1318=)
c.3870A>G (p.Gly1290=)
c.2403A>G (p.Gly801=)
c.3588A>G (p.Gly1196=)
c.3174A>G (p.Gly1058=)
c.3780A>G (p.Gly1260=)
c.4134A>G (p.Gly1378=)
2g.25742383T>GCA425354748ASXL2c.3951A>C (p.Gly1317=)
c.3954A>C (p.Gly1318=)
c.3870A>C (p.Gly1290=)
c.2403A>C (p.Gly801=)
c.3588A>C (p.Gly1196=)
c.3174A>C (p.Gly1058=)
c.3780A>C (p.Gly1260=)
c.4134A>C (p.Gly1378=)
2g.25742384C>ACA346075048ASXL2c.3950G>T (p.Gly1317Val)
c.3953G>T (p.Gly1318Val)
c.3869G>T (p.Gly1290Val)
c.2402G>T (p.Gly801Val)
c.3587G>T (p.Gly1196Val)
c.3173G>T (p.Gly1058Val)
c.3779G>T (p.Gly1260Val)
c.4133G>T (p.Gly1378Val)
2g.25742384C=CA1239490439ASXL2c.3950G= (p.Gly1317=)
c.3953G= (p.Gly1318=)
c.3869G= (p.Gly1290=)
c.2402G= (p.Gly801=)
c.3587G= (p.Gly1196=)
c.3173G= (p.Gly1058=)
c.3779G= (p.Gly1260=)
c.4133G= (p.Gly1378=)
2g.25742384C>GCA346075051ASXL2c.3950G>C (p.Gly1317Ala)
c.3953G>C (p.Gly1318Ala)
c.3869G>C (p.Gly1290Ala)
c.2402G>C (p.Gly801Ala)
c.3587G>C (p.Gly1196Ala)
c.3173G>C (p.Gly1058Ala)
c.3779G>C (p.Gly1260Ala)
c.4133G>C (p.Gly1378Ala)
 gnomAD v4
2g.25742384C>TCA1557390ASXL2c.3950G>A (p.Gly1317Glu)
c.3953G>A (p.Gly1318Glu)
c.3869G>A (p.Gly1290Glu)
c.2402G>A (p.Gly801Glu)
c.3587G>A (p.Gly1196Glu)
c.3173G>A (p.Gly1058Glu)
c.3779G>A (p.Gly1260Glu)
c.4133G>A (p.Gly1378Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742385C>ACA346075054ASXL2c.3949G>T (p.Gly1317Ter)
c.3952G>T (p.Gly1318Ter)
c.3868G>T (p.Gly1290Ter)
c.2401G>T (p.Gly801Ter)
c.3586G>T (p.Gly1196Ter)
c.3172G>T (p.Gly1058Ter)
c.3778G>T (p.Gly1260Ter)
c.4132G>T (p.Gly1378Ter)
2g.25742385C>GCA346075056ASXL2c.3949G>C (p.Gly1317Arg)
c.3952G>C (p.Gly1318Arg)
c.3868G>C (p.Gly1290Arg)
c.2401G>C (p.Gly801Arg)
c.3586G>C (p.Gly1196Arg)
c.3172G>C (p.Gly1058Arg)
c.3778G>C (p.Gly1260Arg)
c.4132G>C (p.Gly1378Arg)
2g.25742385C>TCA346075055ASXL2c.3949G>A (p.Gly1317Arg)
c.3952G>A (p.Gly1318Arg)
c.3868G>A (p.Gly1290Arg)
c.2401G>A (p.Gly801Arg)
c.3586G>A (p.Gly1196Arg)
c.3172G>A (p.Gly1058Arg)
c.3778G>A (p.Gly1260Arg)
c.4132G>A (p.Gly1378Arg)
2g.25742386A>CCA346075057ASXL2c.3948T>G (p.Tyr1316Ter)
c.3951T>G (p.Tyr1317Ter)
c.3867T>G (p.Tyr1289Ter)
c.2400T>G (p.Tyr800Ter)
c.3585T>G (p.Tyr1195Ter)
c.3171T>G (p.Tyr1057Ter)
c.3777T>G (p.Tyr1259Ter)
c.4131T>G (p.Tyr1377Ter)
2g.25742386A>GCA425354754ASXL2c.3948T>C (p.Tyr1316=)
c.3951T>C (p.Tyr1317=)
c.3867T>C (p.Tyr1289=)
c.2400T>C (p.Tyr800=)
c.3585T>C (p.Tyr1195=)
c.3171T>C (p.Tyr1057=)
c.3777T>C (p.Tyr1259=)
c.4131T>C (p.Tyr1377=)
2g.25742386A>TCA346075058ASXL2c.3948T>A (p.Tyr1316Ter)
c.3951T>A (p.Tyr1317Ter)
c.3867T>A (p.Tyr1289Ter)
c.2400T>A (p.Tyr800Ter)
c.3585T>A (p.Tyr1195Ter)
c.3171T>A (p.Tyr1057Ter)
c.3777T>A (p.Tyr1259Ter)
c.4131T>A (p.Tyr1377Ter)
2g.25742387T>ACA346075059ASXL2c.3947A>T (p.Tyr1316Phe)
c.3950A>T (p.Tyr1317Phe)
c.3866A>T (p.Tyr1289Phe)
c.2399A>T (p.Tyr800Phe)
c.3584A>T (p.Tyr1195Phe)
c.3170A>T (p.Tyr1057Phe)
c.3776A>T (p.Tyr1259Phe)
c.4130A>T (p.Tyr1377Phe)
2g.25742387T>CCA346075060ASXL2c.3947A>G (p.Tyr1316Cys)
c.3950A>G (p.Tyr1317Cys)
c.3866A>G (p.Tyr1289Cys)
c.2399A>G (p.Tyr800Cys)
c.3584A>G (p.Tyr1195Cys)
c.3170A>G (p.Tyr1057Cys)
c.3776A>G (p.Tyr1259Cys)
c.4130A>G (p.Tyr1377Cys)
 gnomAD v4
2g.25742387T>GCA346075061ASXL2c.3947A>C (p.Tyr1316Ser)
c.3950A>C (p.Tyr1317Ser)
c.3866A>C (p.Tyr1289Ser)
c.2399A>C (p.Tyr800Ser)
c.3584A>C (p.Tyr1195Ser)
c.3170A>C (p.Tyr1057Ser)
c.3776A>C (p.Tyr1259Ser)
c.4130A>C (p.Tyr1377Ser)
2g.25742388A>CCA346075062ASXL2c.3946T>G (p.Tyr1316Asp)
c.3949T>G (p.Tyr1317Asp)
c.3865T>G (p.Tyr1289Asp)
c.2398T>G (p.Tyr800Asp)
c.3583T>G (p.Tyr1195Asp)
c.3169T>G (p.Tyr1057Asp)
c.3775T>G (p.Tyr1259Asp)
c.4129T>G (p.Tyr1377Asp)
2g.25742388A>GCA346075063ASXL2c.3946T>C (p.Tyr1316His)
c.3949T>C (p.Tyr1317His)
c.3865T>C (p.Tyr1289His)
c.2398T>C (p.Tyr800His)
c.3583T>C (p.Tyr1195His)
c.3169T>C (p.Tyr1057His)
c.3775T>C (p.Tyr1259His)
c.4129T>C (p.Tyr1377His)
2g.25742388A>TCA346075064ASXL2c.3946T>A (p.Tyr1316Asn)
c.3949T>A (p.Tyr1317Asn)
c.3865T>A (p.Tyr1289Asn)
c.2398T>A (p.Tyr800Asn)
c.3583T>A (p.Tyr1195Asn)
c.3169T>A (p.Tyr1057Asn)
c.3775T>A (p.Tyr1259Asn)
c.4129T>A (p.Tyr1377Asn)
2g.25742389C>ACA346075066ASXL2c.3945G>T (p.Leu1315Phe)
c.3948G>T (p.Leu1316Phe)
c.3864G>T (p.Leu1288Phe)
c.2397G>T (p.Leu799Phe)
c.3582G>T (p.Leu1194Phe)
c.3168G>T (p.Leu1056Phe)
c.3774G>T (p.Leu1258Phe)
c.4128G>T (p.Leu1376Phe)
 gnomAD v4
2g.25742389C=CA1239490440ASXL2c.3945G= (p.Leu1315=)
c.3948G= (p.Leu1316=)
c.3864G= (p.Leu1288=)
c.2397G= (p.Leu799=)
c.3582G= (p.Leu1194=)
c.3168G= (p.Leu1056=)
c.3774G= (p.Leu1258=)
c.4128G= (p.Leu1376=)
2g.25742389C>GCA346075069ASXL2c.3945G>C (p.Leu1315Phe)
c.3948G>C (p.Leu1316Phe)
c.3864G>C (p.Leu1288Phe)
c.2397G>C (p.Leu799Phe)
c.3582G>C (p.Leu1194Phe)
c.3168G>C (p.Leu1056Phe)
c.3774G>C (p.Leu1258Phe)
c.4128G>C (p.Leu1376Phe)
 gnomAD v4
2g.25742389C>TCA43734255ASXL2c.3945G>A (p.Leu1315=)
c.3948G>A (p.Leu1316=)
c.3864G>A (p.Leu1288=)
c.2397G>A (p.Leu799=)
c.3582G>A (p.Leu1194=)
c.3168G>A (p.Leu1056=)
c.3774G>A (p.Leu1258=)
c.4128G>A (p.Leu1376=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742390A>CCA346075074ASXL2c.3944T>G (p.Leu1315Trp)
c.3947T>G (p.Leu1316Trp)
c.3863T>G (p.Leu1288Trp)
c.2396T>G (p.Leu799Trp)
c.3581T>G (p.Leu1194Trp)
c.3167T>G (p.Leu1056Trp)
c.3773T>G (p.Leu1258Trp)
c.4127T>G (p.Leu1376Trp)
2g.25742390A>GCA346075082ASXL2c.3944T>C (p.Leu1315Ser)
c.3947T>C (p.Leu1316Ser)
c.3863T>C (p.Leu1288Ser)
c.2396T>C (p.Leu799Ser)
c.3581T>C (p.Leu1194Ser)
c.3167T>C (p.Leu1056Ser)
c.3773T>C (p.Leu1258Ser)
c.4127T>C (p.Leu1376Ser)
2g.25742390A>TCA346075078ASXL2c.3944T>A (p.Leu1315Ter)
c.3947T>A (p.Leu1316Ter)
c.3863T>A (p.Leu1288Ter)
c.2396T>A (p.Leu799Ter)
c.3581T>A (p.Leu1194Ter)
c.3167T>A (p.Leu1056Ter)
c.3773T>A (p.Leu1258Ter)
c.4127T>A (p.Leu1376Ter)
2g.25742391A=CA1239490441ASXL2c.3943T= (p.Leu1315=)
c.3946T= (p.Leu1316=)
c.3862T= (p.Leu1288=)
c.2395T= (p.Leu799=)
c.3580T= (p.Leu1194=)
c.3166T= (p.Leu1056=)
c.3772T= (p.Leu1258=)
c.4126T= (p.Leu1376=)
2g.25742391A>CCA346075085ASXL2c.3943T>G (p.Leu1315Val)
c.3946T>G (p.Leu1316Val)
c.3862T>G (p.Leu1288Val)
c.2395T>G (p.Leu799Val)
c.3580T>G (p.Leu1194Val)
c.3166T>G (p.Leu1056Val)
c.3772T>G (p.Leu1258Val)
c.4126T>G (p.Leu1376Val)
2g.25742391A>GCA425354758ASXL2c.3943T>C (p.Leu1315=)
c.3946T>C (p.Leu1316=)
c.3862T>C (p.Leu1288=)
c.2395T>C (p.Leu799=)
c.3580T>C (p.Leu1194=)
c.3166T>C (p.Leu1056=)
c.3772T>C (p.Leu1258=)
c.4126T>C (p.Leu1376=)
2g.25742391A>TCA346075086ASXL2c.3943T>A (p.Leu1315Met)
c.3946T>A (p.Leu1316Met)
c.3862T>A (p.Leu1288Met)
c.2395T>A (p.Leu799Met)
c.3580T>A (p.Leu1194Met)
c.3166T>A (p.Leu1056Met)
c.3772T>A (p.Leu1258Met)
c.4126T>A (p.Leu1376Met)
 dbSNP

Number of alleles fetched