Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.25742465_25742488dupCA2658189303ASXL2c.3848_3871dup (p.Ser1290_Thr1291insSerSerProGluLeuPheSerSer)
c.3851_3874dup (p.Ser1291_Thr1292insSerSerProGluLeuPheSerSer)
c.3767_3790dup (p.Ser1263_Thr1264insSerSerProGluLeuPheSerSer)
c.2300_2323dup (p.Ser774_Thr775insSerSerProGluLeuPheSerSer)
c.3485_3508dup (p.Ser1169_Thr1170insSerSerProGluLeuPheSerSer)
c.3071_3094dup (p.Ser1031_Thr1032insSerSerProGluLeuPheSerSer)
c.3677_3700dup (p.Ser1233_Thr1234insSerSerProGluLeuPheSerSer)
c.4031_4054dup (p.Ser1351_Thr1352insSerSerProGluLeuPheSerSer)
gnomAD v4
2g.25742488A=CA1239490496ASXL2c.3846T= (p.Arg1282=)
c.3849T= (p.Arg1283=)
c.3765T= (p.Arg1255=)
c.2298T= (p.Arg766=)
c.3483T= (p.Arg1161=)
c.3069T= (p.Arg1023=)
c.3675T= (p.Arg1225=)
c.4029T= (p.Arg1343=)
2g.25742488A>CCA425353690ASXL2c.3846T>G (p.Arg1282=)
c.3849T>G (p.Arg1283=)
c.3765T>G (p.Arg1255=)
c.2298T>G (p.Arg766=)
c.3483T>G (p.Arg1161=)
c.3069T>G (p.Arg1023=)
c.3675T>G (p.Arg1225=)
c.4029T>G (p.Arg1343=)
2g.25742488A>GCA1557412ASXL2c.3846T>C (p.Arg1282=)
c.3849T>C (p.Arg1283=)
c.3765T>C (p.Arg1255=)
c.2298T>C (p.Arg766=)
c.3483T>C (p.Arg1161=)
c.3069T>C (p.Arg1023=)
c.3675T>C (p.Arg1225=)
c.4029T>C (p.Arg1343=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742488A>TCA425353691ASXL2c.3846T>A (p.Arg1282=)
c.3849T>A (p.Arg1283=)
c.3765T>A (p.Arg1255=)
c.2298T>A (p.Arg766=)
c.3483T>A (p.Arg1161=)
c.3069T>A (p.Arg1023=)
c.3675T>A (p.Arg1225=)
c.4029T>A (p.Arg1343=)
2g.25742489C>ACA1557414ASXL2c.3845G>T (p.Arg1282Leu)
c.3848G>T (p.Arg1283Leu)
c.3764G>T (p.Arg1255Leu)
c.2297G>T (p.Arg766Leu)
c.3482G>T (p.Arg1161Leu)
c.3068G>T (p.Arg1023Leu)
c.3674G>T (p.Arg1225Leu)
c.4028G>T (p.Arg1343Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742489C=CA1239490497ASXL2c.3845G= (p.Arg1282=)
c.3848G= (p.Arg1283=)
c.3764G= (p.Arg1255=)
c.2297G= (p.Arg766=)
c.3482G= (p.Arg1161=)
c.3068G= (p.Arg1023=)
c.3674G= (p.Arg1225=)
c.4028G= (p.Arg1343=)
2g.25742489C>GCA346075652ASXL2c.3845G>C (p.Arg1282Pro)
c.3848G>C (p.Arg1283Pro)
c.3764G>C (p.Arg1255Pro)
c.2297G>C (p.Arg766Pro)
c.3482G>C (p.Arg1161Pro)
c.3068G>C (p.Arg1023Pro)
c.3674G>C (p.Arg1225Pro)
c.4028G>C (p.Arg1343Pro)
2g.25742489C>TCA1557413ASXL2c.3845G>A (p.Arg1282His)
c.3848G>A (p.Arg1283His)
c.3764G>A (p.Arg1255His)
c.2297G>A (p.Arg766His)
c.3482G>A (p.Arg1161His)
c.3068G>A (p.Arg1023His)
c.3674G>A (p.Arg1225His)
c.4028G>A (p.Arg1343His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742490G>ACA1557415ASXL2c.3844C>T (p.Arg1282Cys)
c.3847C>T (p.Arg1283Cys)
c.3763C>T (p.Arg1255Cys)
c.2296C>T (p.Arg766Cys)
c.3481C>T (p.Arg1161Cys)
c.3067C>T (p.Arg1023Cys)
c.3673C>T (p.Arg1225Cys)
c.4027C>T (p.Arg1343Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742490G>CCA346075660ASXL2c.3844C>G (p.Arg1282Gly)
c.3847C>G (p.Arg1283Gly)
c.3763C>G (p.Arg1255Gly)
c.2296C>G (p.Arg766Gly)
c.3481C>G (p.Arg1161Gly)
c.3067C>G (p.Arg1023Gly)
c.3673C>G (p.Arg1225Gly)
c.4027C>G (p.Arg1343Gly)
dbSNP gnomAD v2 gnomAD v4
2g.25742490G=CA1239490498ASXL2c.3844C= (p.Arg1282=)
c.3847C= (p.Arg1283=)
c.3763C= (p.Arg1255=)
c.2296C= (p.Arg766=)
c.3481C= (p.Arg1161=)
c.3067C= (p.Arg1023=)
c.3673C= (p.Arg1225=)
c.4027C= (p.Arg1343=)
2g.25742490G>TCA346075663ASXL2c.3844C>A (p.Arg1282Ser)
c.3847C>A (p.Arg1283Ser)
c.3763C>A (p.Arg1255Ser)
c.2296C>A (p.Arg766Ser)
c.3481C>A (p.Arg1161Ser)
c.3067C>A (p.Arg1023Ser)
c.3673C>A (p.Arg1225Ser)
c.4027C>A (p.Arg1343Ser)
2g.25742491G>ACA425353692ASXL2c.3843C>T (p.Ile1281=)
c.3846C>T (p.Ile1282=)
c.3762C>T (p.Ile1254=)
c.2295C>T (p.Ile765=)
c.3480C>T (p.Ile1160=)
c.3066C>T (p.Ile1022=)
c.3672C>T (p.Ile1224=)
c.4026C>T (p.Ile1342=)
2g.25742491G>CCA346075666ASXL2c.3843C>G (p.Ile1281Met)
c.3846C>G (p.Ile1282Met)
c.3762C>G (p.Ile1254Met)
c.2295C>G (p.Ile765Met)
c.3480C>G (p.Ile1160Met)
c.3066C>G (p.Ile1022Met)
c.3672C>G (p.Ile1224Met)
c.4026C>G (p.Ile1342Met)
2g.25742491G>TCA425353693ASXL2c.3843C>A (p.Ile1281=)
c.3846C>A (p.Ile1282=)
c.3762C>A (p.Ile1254=)
c.2295C>A (p.Ile765=)
c.3480C>A (p.Ile1160=)
c.3066C>A (p.Ile1022=)
c.3672C>A (p.Ile1224=)
c.4026C>A (p.Ile1342=)
2g.25742492A>CCA346075668ASXL2c.3842T>G (p.Ile1281Ser)
c.3845T>G (p.Ile1282Ser)
c.3761T>G (p.Ile1254Ser)
c.2294T>G (p.Ile765Ser)
c.3479T>G (p.Ile1160Ser)
c.3065T>G (p.Ile1022Ser)
c.3671T>G (p.Ile1224Ser)
c.4025T>G (p.Ile1342Ser)
2g.25742492A>GCA346075670ASXL2c.3842T>C (p.Ile1281Thr)
c.3845T>C (p.Ile1282Thr)
c.3761T>C (p.Ile1254Thr)
c.2294T>C (p.Ile765Thr)
c.3479T>C (p.Ile1160Thr)
c.3065T>C (p.Ile1022Thr)
c.3671T>C (p.Ile1224Thr)
c.4025T>C (p.Ile1342Thr)
2g.25742492A>TCA346075673ASXL2c.3842T>A (p.Ile1281Asn)
c.3845T>A (p.Ile1282Asn)
c.3761T>A (p.Ile1254Asn)
c.2294T>A (p.Ile765Asn)
c.3479T>A (p.Ile1160Asn)
c.3065T>A (p.Ile1022Asn)
c.3671T>A (p.Ile1224Asn)
c.4025T>A (p.Ile1342Asn)
2g.25742493T>ACA1557416ASXL2c.3841A>T (p.Ile1281Phe)
c.3844A>T (p.Ile1282Phe)
c.3760A>T (p.Ile1254Phe)
c.2293A>T (p.Ile765Phe)
c.3478A>T (p.Ile1160Phe)
c.3064A>T (p.Ile1022Phe)
c.3670A>T (p.Ile1224Phe)
c.4024A>T (p.Ile1342Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742493T>CCA346075681ASXL2c.3841A>G (p.Ile1281Val)
c.3844A>G (p.Ile1282Val)
c.3760A>G (p.Ile1254Val)
c.2293A>G (p.Ile765Val)
c.3478A>G (p.Ile1160Val)
c.3064A>G (p.Ile1022Val)
c.3670A>G (p.Ile1224Val)
c.4024A>G (p.Ile1342Val)
gnomAD v4
2g.25742493T>GCA346075677ASXL2c.3841A>C (p.Ile1281Leu)
c.3844A>C (p.Ile1282Leu)
c.3760A>C (p.Ile1254Leu)
c.2293A>C (p.Ile765Leu)
c.3478A>C (p.Ile1160Leu)
c.3064A>C (p.Ile1022Leu)
c.3670A>C (p.Ile1224Leu)
c.4024A>C (p.Ile1342Leu)
2g.25742493T=CA1239490499ASXL2c.3841A= (p.Ile1281=)
c.3844A= (p.Ile1282=)
c.3760A= (p.Ile1254=)
c.2293A= (p.Ile765=)
c.3478A= (p.Ile1160=)
c.3064A= (p.Ile1022=)
c.3670A= (p.Ile1224=)
c.4024A= (p.Ile1342=)
2g.25742494T>ACA425353694ASXL2c.3840A>T (p.Ala1280=)
c.3843A>T (p.Ala1281=)
c.3759A>T (p.Ala1253=)
c.2292A>T (p.Ala764=)
c.3477A>T (p.Ala1159=)
c.3063A>T (p.Ala1021=)
c.3669A>T (p.Ala1223=)
c.4023A>T (p.Ala1341=)
2g.25742494T>CCA425353695ASXL2c.3840A>G (p.Ala1280=)
c.3843A>G (p.Ala1281=)
c.3759A>G (p.Ala1253=)
c.2292A>G (p.Ala764=)
c.3477A>G (p.Ala1159=)
c.3063A>G (p.Ala1021=)
c.3669A>G (p.Ala1223=)
c.4023A>G (p.Ala1341=)
2g.25742494T>GCA425353696ASXL2c.3840A>C (p.Ala1280=)
c.3843A>C (p.Ala1281=)
c.3759A>C (p.Ala1253=)
c.2292A>C (p.Ala764=)
c.3477A>C (p.Ala1159=)
c.3063A>C (p.Ala1021=)
c.3669A>C (p.Ala1223=)
c.4023A>C (p.Ala1341=)
dbSNP gnomAD v2 gnomAD v4
2g.25742494T=CA1239490500ASXL2c.3840A= (p.Ala1280=)
c.3843A= (p.Ala1281=)
c.3759A= (p.Ala1253=)
c.2292A= (p.Ala764=)
c.3477A= (p.Ala1159=)
c.3063A= (p.Ala1021=)
c.3669A= (p.Ala1223=)
c.4023A= (p.Ala1341=)
2g.25742494_25742495insAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGCA531761031ASXL2c.3839_3840insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT (p.Ile1281ThrfsTer15)
c.3842_3843insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT (p.Ile1282ThrfsTer15)
c.3758_3759insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT (p.Ile1254ThrfsTer15)
c.2291_2292insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT (p.Ile765ThrfsTer15)
c.3476_3477insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT (p.Ile1160ThrfsTer15)
c.3062_3063insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT (p.Ile1022ThrfsTer15)
c.3668_3669insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT (p.Ile1224ThrfsTer15)
c.4022_4023insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT (p.Ile1342ThrfsTer15)
dbSNP gnomAD v2
2g.25742495G>ACA346075688ASXL2c.3839C>T (p.Ala1280Val)
c.3842C>T (p.Ala1281Val)
c.3758C>T (p.Ala1253Val)
c.2291C>T (p.Ala764Val)
c.3476C>T (p.Ala1159Val)
c.3062C>T (p.Ala1021Val)
c.3668C>T (p.Ala1223Val)
c.4022C>T (p.Ala1341Val)
2g.25742495G>CCA346075690ASXL2c.3839C>G (p.Ala1280Gly)
c.3842C>G (p.Ala1281Gly)
c.3758C>G (p.Ala1253Gly)
c.2291C>G (p.Ala764Gly)
c.3476C>G (p.Ala1159Gly)
c.3062C>G (p.Ala1021Gly)
c.3668C>G (p.Ala1223Gly)
c.4022C>G (p.Ala1341Gly)
2g.25742495G>TCA346075691ASXL2c.3839C>A (p.Ala1280Glu)
c.3842C>A (p.Ala1281Glu)
c.3758C>A (p.Ala1253Glu)
c.2291C>A (p.Ala764Glu)
c.3476C>A (p.Ala1159Glu)
c.3062C>A (p.Ala1021Glu)
c.3668C>A (p.Ala1223Glu)
c.4022C>A (p.Ala1341Glu)
2g.25742496C>ACA346075696ASXL2c.3838G>T (p.Ala1280Ser)
c.3841G>T (p.Ala1281Ser)
c.3757G>T (p.Ala1253Ser)
c.2290G>T (p.Ala764Ser)
c.3475G>T (p.Ala1159Ser)
c.3061G>T (p.Ala1021Ser)
c.3667G>T (p.Ala1223Ser)
c.4021G>T (p.Ala1341Ser)
2g.25742496C>GCA346075698ASXL2c.3838G>C (p.Ala1280Pro)
c.3841G>C (p.Ala1281Pro)
c.3757G>C (p.Ala1253Pro)
c.2290G>C (p.Ala764Pro)
c.3475G>C (p.Ala1159Pro)
c.3061G>C (p.Ala1021Pro)
c.3667G>C (p.Ala1223Pro)
c.4021G>C (p.Ala1341Pro)
2g.25742496C>TCA346075702ASXL2c.3838G>A (p.Ala1280Thr)
c.3841G>A (p.Ala1281Thr)
c.3757G>A (p.Ala1253Thr)
c.2290G>A (p.Ala764Thr)
c.3475G>A (p.Ala1159Thr)
c.3061G>A (p.Ala1021Thr)
c.3667G>A (p.Ala1223Thr)
c.4021G>A (p.Ala1341Thr)
2g.25742497C>ACA346075704ASXL2c.3837G>T (p.Lys1279Asn)
c.3840G>T (p.Lys1280Asn)
c.3756G>T (p.Lys1252Asn)
c.2289G>T (p.Lys763Asn)
c.3474G>T (p.Lys1158Asn)
c.3060G>T (p.Lys1020Asn)
c.3666G>T (p.Lys1222Asn)
c.4020G>T (p.Lys1340Asn)
2g.25742497C=CA1239490501ASXL2c.3837G= (p.Lys1279=)
c.3840G= (p.Lys1280=)
c.3756G= (p.Lys1252=)
c.2289G= (p.Lys763=)
c.3474G= (p.Lys1158=)
c.3060G= (p.Lys1020=)
c.3666G= (p.Lys1222=)
c.4020G= (p.Lys1340=)
2g.25742497C>GCA346075706ASXL2c.3837G>C (p.Lys1279Asn)
c.3840G>C (p.Lys1280Asn)
c.3756G>C (p.Lys1252Asn)
c.2289G>C (p.Lys763Asn)
c.3474G>C (p.Lys1158Asn)
c.3060G>C (p.Lys1020Asn)
c.3666G>C (p.Lys1222Asn)
c.4020G>C (p.Lys1340Asn)
2g.25742497C>TCA425353697ASXL2c.3837G>A (p.Lys1279=)
c.3840G>A (p.Lys1280=)
c.3756G>A (p.Lys1252=)
c.2289G>A (p.Lys763=)
c.3474G>A (p.Lys1158=)
c.3060G>A (p.Lys1020=)
c.3666G>A (p.Lys1222=)
c.4020G>A (p.Lys1340=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742498T>ACA346075709ASXL2c.3836A>T (p.Lys1279Met)
c.3839A>T (p.Lys1280Met)
c.3755A>T (p.Lys1252Met)
c.2288A>T (p.Lys763Met)
c.3473A>T (p.Lys1158Met)
c.3059A>T (p.Lys1020Met)
c.3665A>T (p.Lys1222Met)
c.4019A>T (p.Lys1340Met)
ClinVar gnomAD v4
2g.25742498T>CCA346075711ASXL2c.3836A>G (p.Lys1279Arg)
c.3839A>G (p.Lys1280Arg)
c.3755A>G (p.Lys1252Arg)
c.2288A>G (p.Lys763Arg)
c.3473A>G (p.Lys1158Arg)
c.3059A>G (p.Lys1020Arg)
c.3665A>G (p.Lys1222Arg)
c.4019A>G (p.Lys1340Arg)
2g.25742498T>GCA346075714ASXL2c.3836A>C (p.Lys1279Thr)
c.3839A>C (p.Lys1280Thr)
c.3755A>C (p.Lys1252Thr)
c.2288A>C (p.Lys763Thr)
c.3473A>C (p.Lys1158Thr)
c.3059A>C (p.Lys1020Thr)
c.3665A>C (p.Lys1222Thr)
c.4019A>C (p.Lys1340Thr)
ClinVar dbSNP
2g.25742498T=CA1239490502ASXL2c.3836A= (p.Lys1279=)
c.3839A= (p.Lys1280=)
c.3755A= (p.Lys1252=)
c.2288A= (p.Lys763=)
c.3473A= (p.Lys1158=)
c.3059A= (p.Lys1020=)
c.3665A= (p.Lys1222=)
c.4019A= (p.Lys1340=)
2g.25742499T>ACA346075725ASXL2c.3835A>T (p.Lys1279Ter)
c.3838A>T (p.Lys1280Ter)
c.3754A>T (p.Lys1252Ter)
c.2287A>T (p.Lys763Ter)
c.3472A>T (p.Lys1158Ter)
c.3058A>T (p.Lys1020Ter)
c.3664A>T (p.Lys1222Ter)
c.4018A>T (p.Lys1340Ter)
2g.25742499T>CCA346075721ASXL2c.3835A>G (p.Lys1279Glu)
c.3838A>G (p.Lys1280Glu)
c.3754A>G (p.Lys1252Glu)
c.2287A>G (p.Lys763Glu)
c.3472A>G (p.Lys1158Glu)
c.3058A>G (p.Lys1020Glu)
c.3664A>G (p.Lys1222Glu)
c.4018A>G (p.Lys1340Glu)
dbSNP gnomAD v4
2g.25742499T>GCA346075718ASXL2c.3835A>C (p.Lys1279Gln)
c.3838A>C (p.Lys1280Gln)
c.3754A>C (p.Lys1252Gln)
c.2287A>C (p.Lys763Gln)
c.3472A>C (p.Lys1158Gln)
c.3058A>C (p.Lys1020Gln)
c.3664A>C (p.Lys1222Gln)
c.4018A>C (p.Lys1340Gln)
2g.25742499T=CA1239490503ASXL2c.3835A= (p.Lys1279=)
c.3838A= (p.Lys1280=)
c.3754A= (p.Lys1252=)
c.2287A= (p.Lys763=)
c.3472A= (p.Lys1158=)
c.3058A= (p.Lys1020=)
c.3664A= (p.Lys1222=)
c.4018A= (p.Lys1340=)
2g.25742500A>CCA425353699ASXL2c.3834T>G (p.Gly1278=)
c.3837T>G (p.Gly1279=)
c.3753T>G (p.Gly1251=)
c.2286T>G (p.Gly762=)
c.3471T>G (p.Gly1157=)
c.3057T>G (p.Gly1019=)
c.3663T>G (p.Gly1221=)
c.4017T>G (p.Gly1339=)
gnomAD v4
2g.25742500A>GCA425353700ASXL2c.3834T>C (p.Gly1278=)
c.3837T>C (p.Gly1279=)
c.3753T>C (p.Gly1251=)
c.2286T>C (p.Gly762=)
c.3471T>C (p.Gly1157=)
c.3057T>C (p.Gly1019=)
c.3663T>C (p.Gly1221=)
c.4017T>C (p.Gly1339=)
2g.25742500A>TCA425353698ASXL2c.3834T>A (p.Gly1278=)
c.3837T>A (p.Gly1279=)
c.3753T>A (p.Gly1251=)
c.2286T>A (p.Gly762=)
c.3471T>A (p.Gly1157=)
c.3057T>A (p.Gly1019=)
c.3663T>A (p.Gly1221=)
c.4017T>A (p.Gly1339=)
2g.25742501C>ACA346075728ASXL2c.3833G>T (p.Gly1278Val)
c.3836G>T (p.Gly1279Val)
c.3752G>T (p.Gly1251Val)
c.2285G>T (p.Gly762Val)
c.3470G>T (p.Gly1157Val)
c.3056G>T (p.Gly1019Val)
c.3662G>T (p.Gly1221Val)
c.4016G>T (p.Gly1339Val)
2g.25742501C>GCA346075730ASXL2c.3833G>C (p.Gly1278Ala)
c.3836G>C (p.Gly1279Ala)
c.3752G>C (p.Gly1251Ala)
c.2285G>C (p.Gly762Ala)
c.3470G>C (p.Gly1157Ala)
c.3056G>C (p.Gly1019Ala)
c.3662G>C (p.Gly1221Ala)
c.4016G>C (p.Gly1339Ala)
2g.25742501C>TCA346075733ASXL2c.3833G>A (p.Gly1278Asp)
c.3836G>A (p.Gly1279Asp)
c.3752G>A (p.Gly1251Asp)
c.2285G>A (p.Gly762Asp)
c.3470G>A (p.Gly1157Asp)
c.3056G>A (p.Gly1019Asp)
c.3662G>A (p.Gly1221Asp)
c.4016G>A (p.Gly1339Asp)
2g.25742502C>ACA346075736ASXL2c.3832G>T (p.Gly1278Cys)
c.3835G>T (p.Gly1279Cys)
c.3751G>T (p.Gly1251Cys)
c.2284G>T (p.Gly762Cys)
c.3469G>T (p.Gly1157Cys)
c.3055G>T (p.Gly1019Cys)
c.3661G>T (p.Gly1221Cys)
c.4015G>T (p.Gly1339Cys)
2g.25742502C=CA1239490504ASXL2c.3832G= (p.Gly1278=)
c.3835G= (p.Gly1279=)
c.3751G= (p.Gly1251=)
c.2284G= (p.Gly762=)
c.3469G= (p.Gly1157=)
c.3055G= (p.Gly1019=)
c.3661G= (p.Gly1221=)
c.4015G= (p.Gly1339=)
2g.25742502C>GCA346075737ASXL2c.3832G>C (p.Gly1278Arg)
c.3835G>C (p.Gly1279Arg)
c.3751G>C (p.Gly1251Arg)
c.2284G>C (p.Gly762Arg)
c.3469G>C (p.Gly1157Arg)
c.3055G>C (p.Gly1019Arg)
c.3661G>C (p.Gly1221Arg)
c.4015G>C (p.Gly1339Arg)
2g.25742502C>TCA346075738ASXL2c.3832G>A (p.Gly1278Ser)
c.3835G>A (p.Gly1279Ser)
c.3751G>A (p.Gly1251Ser)
c.2284G>A (p.Gly762Ser)
c.3469G>A (p.Gly1157Ser)
c.3055G>A (p.Gly1019Ser)
c.3661G>A (p.Gly1221Ser)
c.4015G>A (p.Gly1339Ser)
dbSNP gnomAD v3 gnomAD v4
2g.25742503T>ACA346075739ASXL2c.3831A>T (p.Arg1277Ser)
c.3834A>T (p.Arg1278Ser)
c.3750A>T (p.Arg1250Ser)
c.2283A>T (p.Arg761Ser)
c.3468A>T (p.Arg1156Ser)
c.3054A>T (p.Arg1018Ser)
c.3660A>T (p.Arg1220Ser)
c.4014A>T (p.Arg1338Ser)
2g.25742503T>CCA425353701ASXL2c.3831A>G (p.Arg1277=)
c.3834A>G (p.Arg1278=)
c.3750A>G (p.Arg1250=)
c.2283A>G (p.Arg761=)
c.3468A>G (p.Arg1156=)
c.3054A>G (p.Arg1018=)
c.3660A>G (p.Arg1220=)
c.4014A>G (p.Arg1338=)
2g.25742503T>GCA346075740ASXL2c.3831A>C (p.Arg1277Ser)
c.3834A>C (p.Arg1278Ser)
c.3750A>C (p.Arg1250Ser)
c.2283A>C (p.Arg761Ser)
c.3468A>C (p.Arg1156Ser)
c.3054A>C (p.Arg1018Ser)
c.3660A>C (p.Arg1220Ser)
c.4014A>C (p.Arg1338Ser)
2g.25742504C>ACA346075742ASXL2c.3830G>T (p.Arg1277Ile)
c.3833G>T (p.Arg1278Ile)
c.3749G>T (p.Arg1250Ile)
c.2282G>T (p.Arg761Ile)
c.3467G>T (p.Arg1156Ile)
c.3053G>T (p.Arg1018Ile)
c.3659G>T (p.Arg1220Ile)
c.4013G>T (p.Arg1338Ile)
2g.25742504C=CA1239490505ASXL2c.3830G= (p.Arg1277=)
c.3833G= (p.Arg1278=)
c.3749G= (p.Arg1250=)
c.2282G= (p.Arg761=)
c.3467G= (p.Arg1156=)
c.3053G= (p.Arg1018=)
c.3659G= (p.Arg1220=)
c.4013G= (p.Arg1338=)
2g.25742504C>GCA346075754ASXL2c.3830G>C (p.Arg1277Thr)
c.3833G>C (p.Arg1278Thr)
c.3749G>C (p.Arg1250Thr)
c.2282G>C (p.Arg761Thr)
c.3467G>C (p.Arg1156Thr)
c.3053G>C (p.Arg1018Thr)
c.3659G>C (p.Arg1220Thr)
c.4013G>C (p.Arg1338Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742504C>TCA346075758ASXL2c.3830G>A (p.Arg1277Lys)
c.3833G>A (p.Arg1278Lys)
c.3749G>A (p.Arg1250Lys)
c.2282G>A (p.Arg761Lys)
c.3467G>A (p.Arg1156Lys)
c.3053G>A (p.Arg1018Lys)
c.3659G>A (p.Arg1220Lys)
c.4013G>A (p.Arg1338Lys)
2g.25742505T>ACA346075761ASXL2c.3829A>T (p.Arg1277Ter)
c.3832A>T (p.Arg1278Ter)
c.3748A>T (p.Arg1250Ter)
c.2281A>T (p.Arg761Ter)
c.3466A>T (p.Arg1156Ter)
c.3052A>T (p.Arg1018Ter)
c.3658A>T (p.Arg1220Ter)
c.4012A>T (p.Arg1338Ter)
2g.25742505T>CCA346075763ASXL2c.3829A>G (p.Arg1277Gly)
c.3832A>G (p.Arg1278Gly)
c.3748A>G (p.Arg1250Gly)
c.2281A>G (p.Arg761Gly)
c.3466A>G (p.Arg1156Gly)
c.3052A>G (p.Arg1018Gly)
c.3658A>G (p.Arg1220Gly)
c.4012A>G (p.Arg1338Gly)
2g.25742505T>GCA425353702ASXL2c.3829A>C (p.Arg1277=)
c.3832A>C (p.Arg1278=)
c.3748A>C (p.Arg1250=)
c.2281A>C (p.Arg761=)
c.3466A>C (p.Arg1156=)
c.3052A>C (p.Arg1018=)
c.3658A>C (p.Arg1220=)
c.4012A>C (p.Arg1338=)
2g.25742506C>ACA425353703ASXL2c.3828G>T (p.Val1276=)
c.3831G>T (p.Val1277=)
c.3747G>T (p.Val1249=)
c.2280G>T (p.Val760=)
c.3465G>T (p.Val1155=)
c.3051G>T (p.Val1017=)
c.3657G>T (p.Val1219=)
c.4011G>T (p.Val1337=)
2g.25742506C>GCA425353705ASXL2c.3828G>C (p.Val1276=)
c.3831G>C (p.Val1277=)
c.3747G>C (p.Val1249=)
c.2280G>C (p.Val760=)
c.3465G>C (p.Val1155=)
c.3051G>C (p.Val1017=)
c.3657G>C (p.Val1219=)
c.4011G>C (p.Val1337=)
2g.25742506C>TCA425353704ASXL2c.3828G>A (p.Val1276=)
c.3831G>A (p.Val1277=)
c.3747G>A (p.Val1249=)
c.2280G>A (p.Val760=)
c.3465G>A (p.Val1155=)
c.3051G>A (p.Val1017=)
c.3657G>A (p.Val1219=)
c.4011G>A (p.Val1337=)
2g.25742507A=CA1239490506ASXL2c.3827T= (p.Val1276=)
c.3830T= (p.Val1277=)
c.3746T= (p.Val1249=)
c.2279T= (p.Val760=)
c.3464T= (p.Val1155=)
c.3050T= (p.Val1017=)
c.3656T= (p.Val1219=)
c.4010T= (p.Val1337=)
2g.25742507A>CCA346075771ASXL2c.3827T>G (p.Val1276Gly)
c.3830T>G (p.Val1277Gly)
c.3746T>G (p.Val1249Gly)
c.2279T>G (p.Val760Gly)
c.3464T>G (p.Val1155Gly)
c.3050T>G (p.Val1017Gly)
c.3656T>G (p.Val1219Gly)
c.4010T>G (p.Val1337Gly)
2g.25742507A>GCA1557417ASXL2c.3827T>C (p.Val1276Ala)
c.3830T>C (p.Val1277Ala)
c.3746T>C (p.Val1249Ala)
c.2279T>C (p.Val760Ala)
c.3464T>C (p.Val1155Ala)
c.3050T>C (p.Val1017Ala)
c.3656T>C (p.Val1219Ala)
c.4010T>C (p.Val1337Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742507A>TCA346075769ASXL2c.3827T>A (p.Val1276Glu)
c.3830T>A (p.Val1277Glu)
c.3746T>A (p.Val1249Glu)
c.2279T>A (p.Val760Glu)
c.3464T>A (p.Val1155Glu)
c.3050T>A (p.Val1017Glu)
c.3656T>A (p.Val1219Glu)
c.4010T>A (p.Val1337Glu)
2g.25742508C>ACA346075774ASXL2c.3826G>T (p.Val1276Leu)
c.3829G>T (p.Val1277Leu)
c.3745G>T (p.Val1249Leu)
c.2278G>T (p.Val760Leu)
c.3463G>T (p.Val1155Leu)
c.3049G>T (p.Val1017Leu)
c.3655G>T (p.Val1219Leu)
c.4009G>T (p.Val1337Leu)
2g.25742508C>GCA346075777ASXL2c.3826G>C (p.Val1276Leu)
c.3829G>C (p.Val1277Leu)
c.3745G>C (p.Val1249Leu)
c.2278G>C (p.Val760Leu)
c.3463G>C (p.Val1155Leu)
c.3049G>C (p.Val1017Leu)
c.3655G>C (p.Val1219Leu)
c.4009G>C (p.Val1337Leu)
ClinVar
2g.25742508C>TCA346075780ASXL2c.3826G>A (p.Val1276Met)
c.3829G>A (p.Val1277Met)
c.3745G>A (p.Val1249Met)
c.2278G>A (p.Val760Met)
c.3463G>A (p.Val1155Met)
c.3049G>A (p.Val1017Met)
c.3655G>A (p.Val1219Met)
c.4009G>A (p.Val1337Met)
2g.25742509T>ACA425353706ASXL2c.3825A>T (p.Ala1275=)
c.3828A>T (p.Ala1276=)
c.3744A>T (p.Ala1248=)
c.2277A>T (p.Ala759=)
c.3462A>T (p.Ala1154=)
c.3048A>T (p.Ala1016=)
c.3654A>T (p.Ala1218=)
c.4008A>T (p.Ala1336=)
2g.25742509T>CCA43734310ASXL2c.3825A>G (p.Ala1275=)
c.3828A>G (p.Ala1276=)
c.3744A>G (p.Ala1248=)
c.2277A>G (p.Ala759=)
c.3462A>G (p.Ala1154=)
c.3048A>G (p.Ala1016=)
c.3654A>G (p.Ala1218=)
c.4008A>G (p.Ala1336=)
dbSNP
2g.25742509T>GCA425353707ASXL2c.3825A>C (p.Ala1275=)
c.3828A>C (p.Ala1276=)
c.3744A>C (p.Ala1248=)
c.2277A>C (p.Ala759=)
c.3462A>C (p.Ala1154=)
c.3048A>C (p.Ala1016=)
c.3654A>C (p.Ala1218=)
c.4008A>C (p.Ala1336=)
2g.25742509T=CA1239490507ASXL2c.3825A= (p.Ala1275=)
c.3828A= (p.Ala1276=)
c.3744A= (p.Ala1248=)
c.2277A= (p.Ala759=)
c.3462A= (p.Ala1154=)
c.3048A= (p.Ala1016=)
c.3654A= (p.Ala1218=)
c.4008A= (p.Ala1336=)
2g.25742510G>ACA346075783ASXL2c.3824C>T (p.Ala1275Val)
c.3827C>T (p.Ala1276Val)
c.3743C>T (p.Ala1248Val)
c.2276C>T (p.Ala759Val)
c.3461C>T (p.Ala1154Val)
c.3047C>T (p.Ala1016Val)
c.3653C>T (p.Ala1218Val)
c.4007C>T (p.Ala1336Val)
gnomAD v4
2g.25742510G>CCA346075786ASXL2c.3824C>G (p.Ala1275Gly)
c.3827C>G (p.Ala1276Gly)
c.3743C>G (p.Ala1248Gly)
c.2276C>G (p.Ala759Gly)
c.3461C>G (p.Ala1154Gly)
c.3047C>G (p.Ala1016Gly)
c.3653C>G (p.Ala1218Gly)
c.4007C>G (p.Ala1336Gly)
2g.25742510G>TCA346075789ASXL2c.3824C>A (p.Ala1275Glu)
c.3827C>A (p.Ala1276Glu)
c.3743C>A (p.Ala1248Glu)
c.2276C>A (p.Ala759Glu)
c.3461C>A (p.Ala1154Glu)
c.3047C>A (p.Ala1016Glu)
c.3653C>A (p.Ala1218Glu)
c.4007C>A (p.Ala1336Glu)
2g.25742511C>ACA346075792ASXL2c.3823G>T (p.Ala1275Ser)
c.3826G>T (p.Ala1276Ser)
c.3742G>T (p.Ala1248Ser)
c.2275G>T (p.Ala759Ser)
c.3460G>T (p.Ala1154Ser)
c.3046G>T (p.Ala1016Ser)
c.3652G>T (p.Ala1218Ser)
c.4006G>T (p.Ala1336Ser)
2g.25742511C>GCA346075795ASXL2c.3823G>C (p.Ala1275Pro)
c.3826G>C (p.Ala1276Pro)
c.3742G>C (p.Ala1248Pro)
c.2275G>C (p.Ala759Pro)
c.3460G>C (p.Ala1154Pro)
c.3046G>C (p.Ala1016Pro)
c.3652G>C (p.Ala1218Pro)
c.4006G>C (p.Ala1336Pro)
2g.25742511C>TCA346075798ASXL2c.3823G>A (p.Ala1275Thr)
c.3826G>A (p.Ala1276Thr)
c.3742G>A (p.Ala1248Thr)
c.2275G>A (p.Ala759Thr)
c.3460G>A (p.Ala1154Thr)
c.3046G>A (p.Ala1016Thr)
c.3652G>A (p.Ala1218Thr)
c.4006G>A (p.Ala1336Thr)
2g.25742512A=CA1239490508ASXL2c.3822T= (p.His1274=)
c.3825T= (p.His1275=)
c.3741T= (p.His1247=)
c.2274T= (p.His758=)
c.3459T= (p.His1153=)
c.3045T= (p.His1015=)
c.3651T= (p.His1217=)
c.4005T= (p.His1335=)
2g.25742512A>CCA346075801ASXL2c.3822T>G (p.His1274Gln)
c.3825T>G (p.His1275Gln)
c.3741T>G (p.His1247Gln)
c.2274T>G (p.His758Gln)
c.3459T>G (p.His1153Gln)
c.3045T>G (p.His1015Gln)
c.3651T>G (p.His1217Gln)
c.4005T>G (p.His1335Gln)
2g.25742512A>GCA43734314ASXL2c.3822T>C (p.His1274=)
c.3825T>C (p.His1275=)
c.3741T>C (p.His1247=)
c.2274T>C (p.His758=)
c.3459T>C (p.His1153=)
c.3045T>C (p.His1015=)
c.3651T>C (p.His1217=)
c.4005T>C (p.His1335=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742512A>TCA346075805ASXL2c.3822T>A (p.His1274Gln)
c.3825T>A (p.His1275Gln)
c.3741T>A (p.His1247Gln)
c.2274T>A (p.His758Gln)
c.3459T>A (p.His1153Gln)
c.3045T>A (p.His1015Gln)
c.3651T>A (p.His1217Gln)
c.4005T>A (p.His1335Gln)
2g.25742513T>ACA346075812ASXL2c.3821A>T (p.His1274Leu)
c.3824A>T (p.His1275Leu)
c.3740A>T (p.His1247Leu)
c.2273A>T (p.His758Leu)
c.3458A>T (p.His1153Leu)
c.3044A>T (p.His1015Leu)
c.3650A>T (p.His1217Leu)
c.4004A>T (p.His1335Leu)
2g.25742513T>CCA346075813ASXL2c.3821A>G (p.His1274Arg)
c.3824A>G (p.His1275Arg)
c.3740A>G (p.His1247Arg)
c.2273A>G (p.His758Arg)
c.3458A>G (p.His1153Arg)
c.3044A>G (p.His1015Arg)
c.3650A>G (p.His1217Arg)
c.4004A>G (p.His1335Arg)
gnomAD v4
2g.25742513T>GCA346075809ASXL2c.3821A>C (p.His1274Pro)
c.3824A>C (p.His1275Pro)
c.3740A>C (p.His1247Pro)
c.2273A>C (p.His758Pro)
c.3458A>C (p.His1153Pro)
c.3044A>C (p.His1015Pro)
c.3650A>C (p.His1217Pro)
c.4004A>C (p.His1335Pro)
dbSNP gnomAD v4
2g.25742513T=CA1239490509ASXL2c.3821A= (p.His1274=)
c.3824A= (p.His1275=)
c.3740A= (p.His1247=)
c.2273A= (p.His758=)
c.3458A= (p.His1153=)
c.3044A= (p.His1015=)
c.3650A= (p.His1217=)
c.4004A= (p.His1335=)
2g.25742514G>ACA1557418ASXL2c.3820C>T (p.His1274Tyr)
c.3823C>T (p.His1275Tyr)
c.3739C>T (p.His1247Tyr)
c.2272C>T (p.His758Tyr)
c.3457C>T (p.His1153Tyr)
c.3043C>T (p.His1015Tyr)
c.3649C>T (p.His1217Tyr)
c.4003C>T (p.His1335Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742514G>CCA346075817ASXL2c.3820C>G (p.His1274Asp)
c.3823C>G (p.His1275Asp)
c.3739C>G (p.His1247Asp)
c.2272C>G (p.His758Asp)
c.3457C>G (p.His1153Asp)
c.3043C>G (p.His1015Asp)
c.3649C>G (p.His1217Asp)
c.4003C>G (p.His1335Asp)
2g.25742514G=CA1239490510ASXL2c.3820C= (p.His1274=)
c.3823C= (p.His1275=)
c.3739C= (p.His1247=)
c.2272C= (p.His758=)
c.3457C= (p.His1153=)
c.3043C= (p.His1015=)
c.3649C= (p.His1217=)
c.4003C= (p.His1335=)
2g.25742514G>TCA346075823ASXL2c.3820C>A (p.His1274Asn)
c.3823C>A (p.His1275Asn)
c.3739C>A (p.His1247Asn)
c.2272C>A (p.His758Asn)
c.3457C>A (p.His1153Asn)
c.3043C>A (p.His1015Asn)
c.3649C>A (p.His1217Asn)
c.4003C>A (p.His1335Asn)
2g.25742515A>CCA425353708ASXL2c.3819T>G (p.Ala1273=)
c.3822T>G (p.Ala1274=)
c.3738T>G (p.Ala1246=)
c.2271T>G (p.Ala757=)
c.3456T>G (p.Ala1152=)
c.3042T>G (p.Ala1014=)
c.3648T>G (p.Ala1216=)
c.4002T>G (p.Ala1334=)
2g.25742515A>GCA425353709ASXL2c.3819T>C (p.Ala1273=)
c.3822T>C (p.Ala1274=)
c.3738T>C (p.Ala1246=)
c.2271T>C (p.Ala757=)
c.3456T>C (p.Ala1152=)
c.3042T>C (p.Ala1014=)
c.3648T>C (p.Ala1216=)
c.4002T>C (p.Ala1334=)
2g.25742515A>TCA425353710ASXL2c.3819T>A (p.Ala1273=)
c.3822T>A (p.Ala1274=)
c.3738T>A (p.Ala1246=)
c.2271T>A (p.Ala757=)
c.3456T>A (p.Ala1152=)
c.3042T>A (p.Ala1014=)
c.3648T>A (p.Ala1216=)
c.4002T>A (p.Ala1334=)
2g.25742516G>ACA346075827ASXL2c.3818C>T (p.Ala1273Val)
c.3821C>T (p.Ala1274Val)
c.3737C>T (p.Ala1246Val)
c.2270C>T (p.Ala757Val)
c.3455C>T (p.Ala1152Val)
c.3041C>T (p.Ala1014Val)
c.3647C>T (p.Ala1216Val)
c.4001C>T (p.Ala1334Val)
2g.25742516G>CCA346075831ASXL2c.3818C>G (p.Ala1273Gly)
c.3821C>G (p.Ala1274Gly)
c.3737C>G (p.Ala1246Gly)
c.2270C>G (p.Ala757Gly)
c.3455C>G (p.Ala1152Gly)
c.3041C>G (p.Ala1014Gly)
c.3647C>G (p.Ala1216Gly)
c.4001C>G (p.Ala1334Gly)
2g.25742516G>TCA346075830ASXL2c.3818C>A (p.Ala1273Asp)
c.3821C>A (p.Ala1274Asp)
c.3737C>A (p.Ala1246Asp)
c.2270C>A (p.Ala757Asp)
c.3455C>A (p.Ala1152Asp)
c.3041C>A (p.Ala1014Asp)
c.3647C>A (p.Ala1216Asp)
c.4001C>A (p.Ala1334Asp)
2g.25742517C>ACA346075832ASXL2c.3817G>T (p.Ala1273Ser)
c.3820G>T (p.Ala1274Ser)
c.3736G>T (p.Ala1246Ser)
c.2269G>T (p.Ala757Ser)
c.3454G>T (p.Ala1152Ser)
c.3040G>T (p.Ala1014Ser)
c.3646G>T (p.Ala1216Ser)
c.4000G>T (p.Ala1334Ser)
dbSNP gnomAD v2 gnomAD v4
2g.25742517C=CA1239490511ASXL2c.3817G= (p.Ala1273=)
c.3820G= (p.Ala1274=)
c.3736G= (p.Ala1246=)
c.2269G= (p.Ala757=)
c.3454G= (p.Ala1152=)
c.3040G= (p.Ala1014=)
c.3646G= (p.Ala1216=)
c.4000G= (p.Ala1334=)
2g.25742517C>GCA43734318ASXL2c.3817G>C (p.Ala1273Pro)
c.3820G>C (p.Ala1274Pro)
c.3736G>C (p.Ala1246Pro)
c.2269G>C (p.Ala757Pro)
c.3454G>C (p.Ala1152Pro)
c.3040G>C (p.Ala1014Pro)
c.3646G>C (p.Ala1216Pro)
c.4000G>C (p.Ala1334Pro)
dbSNP
2g.25742517C>TCA346075836ASXL2c.3817G>A (p.Ala1273Thr)
c.3820G>A (p.Ala1274Thr)
c.3736G>A (p.Ala1246Thr)
c.2269G>A (p.Ala757Thr)
c.3454G>A (p.Ala1152Thr)
c.3040G>A (p.Ala1014Thr)
c.3646G>A (p.Ala1216Thr)
c.4000G>A (p.Ala1334Thr)
2g.25742518C>ACA346075842ASXL2c.3816G>T (p.Met1272Ile)
c.3819G>T (p.Met1273Ile)
c.3735G>T (p.Met1245Ile)
c.2268G>T (p.Met756Ile)
c.3453G>T (p.Met1151Ile)
c.3039G>T (p.Met1013Ile)
c.3645G>T (p.Met1215Ile)
c.3999G>T (p.Met1333Ile)
gnomAD v4
2g.25742518C>GCA346075845ASXL2c.3816G>C (p.Met1272Ile)
c.3819G>C (p.Met1273Ile)
c.3735G>C (p.Met1245Ile)
c.2268G>C (p.Met756Ile)
c.3453G>C (p.Met1151Ile)
c.3039G>C (p.Met1013Ile)
c.3645G>C (p.Met1215Ile)
c.3999G>C (p.Met1333Ile)
2g.25742518C>TCA346075847ASXL2c.3816G>A (p.Met1272Ile)
c.3819G>A (p.Met1273Ile)
c.3735G>A (p.Met1245Ile)
c.2268G>A (p.Met756Ile)
c.3453G>A (p.Met1151Ile)
c.3039G>A (p.Met1013Ile)
c.3645G>A (p.Met1215Ile)
c.3999G>A (p.Met1333Ile)
ClinVar dbSNP
2g.25742519A>CCA346075849ASXL2c.3815T>G (p.Met1272Arg)
c.3818T>G (p.Met1273Arg)
c.3734T>G (p.Met1245Arg)
c.2267T>G (p.Met756Arg)
c.3452T>G (p.Met1151Arg)
c.3038T>G (p.Met1013Arg)
c.3644T>G (p.Met1215Arg)
c.3998T>G (p.Met1333Arg)
2g.25742519A>GCA346075852ASXL2c.3815T>C (p.Met1272Thr)
c.3818T>C (p.Met1273Thr)
c.3734T>C (p.Met1245Thr)
c.2267T>C (p.Met756Thr)
c.3452T>C (p.Met1151Thr)
c.3038T>C (p.Met1013Thr)
c.3644T>C (p.Met1215Thr)
c.3998T>C (p.Met1333Thr)
2g.25742519A>TCA346075855ASXL2c.3815T>A (p.Met1272Lys)
c.3818T>A (p.Met1273Lys)
c.3734T>A (p.Met1245Lys)
c.2267T>A (p.Met756Lys)
c.3452T>A (p.Met1151Lys)
c.3038T>A (p.Met1013Lys)
c.3644T>A (p.Met1215Lys)
c.3998T>A (p.Met1333Lys)
2g.25742520T>ACA346075858ASXL2c.3814A>T (p.Met1272Leu)
c.3817A>T (p.Met1273Leu)
c.3733A>T (p.Met1245Leu)
c.2266A>T (p.Met756Leu)
c.3451A>T (p.Met1151Leu)
c.3037A>T (p.Met1013Leu)
c.3643A>T (p.Met1215Leu)
c.3997A>T (p.Met1333Leu)
2g.25742520T>CCA346075861ASXL2c.3814A>G (p.Met1272Val)
c.3817A>G (p.Met1273Val)
c.3733A>G (p.Met1245Val)
c.2266A>G (p.Met756Val)
c.3451A>G (p.Met1151Val)
c.3037A>G (p.Met1013Val)
c.3643A>G (p.Met1215Val)
c.3997A>G (p.Met1333Val)
2g.25742520T>GCA346075865ASXL2c.3814A>C (p.Met1272Leu)
c.3817A>C (p.Met1273Leu)
c.3733A>C (p.Met1245Leu)
c.2266A>C (p.Met756Leu)
c.3451A>C (p.Met1151Leu)
c.3037A>C (p.Met1013Leu)
c.3643A>C (p.Met1215Leu)
c.3997A>C (p.Met1333Leu)
2g.25742521C>ACA1557419ASXL2c.3813G>T (p.Gln1271His)
c.3816G>T (p.Gln1272His)
c.3732G>T (p.Gln1244His)
c.2265G>T (p.Gln755His)
c.3450G>T (p.Gln1150His)
c.3036G>T (p.Gln1012His)
c.3642G>T (p.Gln1214His)
c.3996G>T (p.Gln1332His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742521C=CA1239490512ASXL2c.3813G= (p.Gln1271=)
c.3816G= (p.Gln1272=)
c.3732G= (p.Gln1244=)
c.2265G= (p.Gln755=)
c.3450G= (p.Gln1150=)
c.3036G= (p.Gln1012=)
c.3642G= (p.Gln1214=)
c.3996G= (p.Gln1332=)
2g.25742521C>GCA346075873ASXL2c.3813G>C (p.Gln1271His)
c.3816G>C (p.Gln1272His)
c.3732G>C (p.Gln1244His)
c.2265G>C (p.Gln755His)
c.3450G>C (p.Gln1150His)
c.3036G>C (p.Gln1012His)
c.3642G>C (p.Gln1214His)
c.3996G>C (p.Gln1332His)
2g.25742521C>TCA1557420ASXL2c.3813G>A (p.Gln1271=)
c.3816G>A (p.Gln1272=)
c.3732G>A (p.Gln1244=)
c.2265G>A (p.Gln755=)
c.3450G>A (p.Gln1150=)
c.3036G>A (p.Gln1012=)
c.3642G>A (p.Gln1214=)
c.3996G>A (p.Gln1332=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742522T>ACA346075884ASXL2c.3812A>T (p.Gln1271Leu)
c.3815A>T (p.Gln1272Leu)
c.3731A>T (p.Gln1244Leu)
c.2264A>T (p.Gln755Leu)
c.3449A>T (p.Gln1150Leu)
c.3035A>T (p.Gln1012Leu)
c.3641A>T (p.Gln1214Leu)
c.3995A>T (p.Gln1332Leu)
ClinVar
2g.25742522T>CCA346075879ASXL2c.3812A>G (p.Gln1271Arg)
c.3815A>G (p.Gln1272Arg)
c.3731A>G (p.Gln1244Arg)
c.2264A>G (p.Gln755Arg)
c.3449A>G (p.Gln1150Arg)
c.3035A>G (p.Gln1012Arg)
c.3641A>G (p.Gln1214Arg)
c.3995A>G (p.Gln1332Arg)
2g.25742522T>GCA346075882ASXL2c.3812A>C (p.Gln1271Pro)
c.3815A>C (p.Gln1272Pro)
c.3731A>C (p.Gln1244Pro)
c.2264A>C (p.Gln755Pro)
c.3449A>C (p.Gln1150Pro)
c.3035A>C (p.Gln1012Pro)
c.3641A>C (p.Gln1214Pro)
c.3995A>C (p.Gln1332Pro)
2g.25742523G>ACA346075888ASXL2c.3811C>T (p.Gln1271Ter)
c.3814C>T (p.Gln1272Ter)
c.3730C>T (p.Gln1244Ter)
c.2263C>T (p.Gln755Ter)
c.3448C>T (p.Gln1150Ter)
c.3034C>T (p.Gln1012Ter)
c.3640C>T (p.Gln1214Ter)
c.3994C>T (p.Gln1332Ter)
2g.25742523G>CCA346075891ASXL2c.3811C>G (p.Gln1271Glu)
c.3814C>G (p.Gln1272Glu)
c.3730C>G (p.Gln1244Glu)
c.2263C>G (p.Gln755Glu)
c.3448C>G (p.Gln1150Glu)
c.3034C>G (p.Gln1012Glu)
c.3640C>G (p.Gln1214Glu)
c.3994C>G (p.Gln1332Glu)
2g.25742523G>TCA346075894ASXL2c.3811C>A (p.Gln1271Lys)
c.3814C>A (p.Gln1272Lys)
c.3730C>A (p.Gln1244Lys)
c.2263C>A (p.Gln755Lys)
c.3448C>A (p.Gln1150Lys)
c.3034C>A (p.Gln1012Lys)
c.3640C>A (p.Gln1214Lys)
c.3994C>A (p.Gln1332Lys)
2g.25742524C>ACA346075897ASXL2c.3810G>T (p.Lys1270Asn)
c.3813G>T (p.Lys1271Asn)
c.3729G>T (p.Lys1243Asn)
c.2262G>T (p.Lys754Asn)
c.3447G>T (p.Lys1149Asn)
c.3033G>T (p.Lys1011Asn)
c.3639G>T (p.Lys1213Asn)
c.3993G>T (p.Lys1331Asn)
2g.25742524C>GCA346075900ASXL2c.3810G>C (p.Lys1270Asn)
c.3813G>C (p.Lys1271Asn)
c.3729G>C (p.Lys1243Asn)
c.2262G>C (p.Lys754Asn)
c.3447G>C (p.Lys1149Asn)
c.3033G>C (p.Lys1011Asn)
c.3639G>C (p.Lys1213Asn)
c.3993G>C (p.Lys1331Asn)
2g.25742524C>TCA425353711ASXL2c.3810G>A (p.Lys1270=)
c.3813G>A (p.Lys1271=)
c.3729G>A (p.Lys1243=)
c.2262G>A (p.Lys754=)
c.3447G>A (p.Lys1149=)
c.3033G>A (p.Lys1011=)
c.3639G>A (p.Lys1213=)
c.3993G>A (p.Lys1331=)
2g.25742525T>ACA346075905ASXL2c.3809A>T (p.Lys1270Met)
c.3812A>T (p.Lys1271Met)
c.3728A>T (p.Lys1243Met)
c.2261A>T (p.Lys754Met)
c.3446A>T (p.Lys1149Met)
c.3032A>T (p.Lys1011Met)
c.3638A>T (p.Lys1213Met)
c.3992A>T (p.Lys1331Met)
2g.25742525T>CCA346075911ASXL2c.3809A>G (p.Lys1270Arg)
c.3812A>G (p.Lys1271Arg)
c.3728A>G (p.Lys1243Arg)
c.2261A>G (p.Lys754Arg)
c.3446A>G (p.Lys1149Arg)
c.3032A>G (p.Lys1011Arg)
c.3638A>G (p.Lys1213Arg)
c.3992A>G (p.Lys1331Arg)
2g.25742525T>GCA346075914ASXL2c.3809A>C (p.Lys1270Thr)
c.3812A>C (p.Lys1271Thr)
c.3728A>C (p.Lys1243Thr)
c.2261A>C (p.Lys754Thr)
c.3446A>C (p.Lys1149Thr)
c.3032A>C (p.Lys1011Thr)
c.3638A>C (p.Lys1213Thr)
c.3992A>C (p.Lys1331Thr)
2g.25742526T>ACA346075917ASXL2c.3808A>T (p.Lys1270Ter)
c.3811A>T (p.Lys1271Ter)
c.3727A>T (p.Lys1243Ter)
c.2260A>T (p.Lys754Ter)
c.3445A>T (p.Lys1149Ter)
c.3031A>T (p.Lys1011Ter)
c.3637A>T (p.Lys1213Ter)
c.3991A>T (p.Lys1331Ter)
2g.25742526T>CCA346075919ASXL2c.3808A>G (p.Lys1270Glu)
c.3811A>G (p.Lys1271Glu)
c.3727A>G (p.Lys1243Glu)
c.2260A>G (p.Lys754Glu)
c.3445A>G (p.Lys1149Glu)
c.3031A>G (p.Lys1011Glu)
c.3637A>G (p.Lys1213Glu)
c.3991A>G (p.Lys1331Glu)
2g.25742526T>GCA346075922ASXL2c.3808A>C (p.Lys1270Gln)
c.3811A>C (p.Lys1271Gln)
c.3727A>C (p.Lys1243Gln)
c.2260A>C (p.Lys754Gln)
c.3445A>C (p.Lys1149Gln)
c.3031A>C (p.Lys1011Gln)
c.3637A>C (p.Lys1213Gln)
c.3991A>C (p.Lys1331Gln)
2g.25742527C>ACA346075926ASXL2c.3807G>T (p.Gln1269His)
c.3810G>T (p.Gln1270His)
c.3726G>T (p.Gln1242His)
c.2259G>T (p.Gln753His)
c.3444G>T (p.Gln1148His)
c.3030G>T (p.Gln1010His)
c.3636G>T (p.Gln1212His)
c.3990G>T (p.Gln1330His)
2g.25742527C>GCA346075929ASXL2c.3807G>C (p.Gln1269His)
c.3810G>C (p.Gln1270His)
c.3726G>C (p.Gln1242His)
c.2259G>C (p.Gln753His)
c.3444G>C (p.Gln1148His)
c.3030G>C (p.Gln1010His)
c.3636G>C (p.Gln1212His)
c.3990G>C (p.Gln1330His)
2g.25742527C>TCA425353712ASXL2c.3807G>A (p.Gln1269=)
c.3810G>A (p.Gln1270=)
c.3726G>A (p.Gln1242=)
c.2259G>A (p.Gln753=)
c.3444G>A (p.Gln1148=)
c.3030G>A (p.Gln1010=)
c.3636G>A (p.Gln1212=)
c.3990G>A (p.Gln1330=)
2g.25742528T>ACA346075933ASXL2c.3806A>T (p.Gln1269Leu)
c.3809A>T (p.Gln1270Leu)
c.3725A>T (p.Gln1242Leu)
c.2258A>T (p.Gln753Leu)
c.3443A>T (p.Gln1148Leu)
c.3029A>T (p.Gln1010Leu)
c.3635A>T (p.Gln1212Leu)
c.3989A>T (p.Gln1330Leu)
2g.25742528T>CCA346075936ASXL2c.3806A>G (p.Gln1269Arg)
c.3809A>G (p.Gln1270Arg)
c.3725A>G (p.Gln1242Arg)
c.2258A>G (p.Gln753Arg)
c.3443A>G (p.Gln1148Arg)
c.3029A>G (p.Gln1010Arg)
c.3635A>G (p.Gln1212Arg)
c.3989A>G (p.Gln1330Arg)
2g.25742528T>GCA346075940ASXL2c.3806A>C (p.Gln1269Pro)
c.3809A>C (p.Gln1270Pro)
c.3725A>C (p.Gln1242Pro)
c.2258A>C (p.Gln753Pro)
c.3443A>C (p.Gln1148Pro)
c.3029A>C (p.Gln1010Pro)
c.3635A>C (p.Gln1212Pro)
c.3989A>C (p.Gln1330Pro)
2g.25742529G>ACA346075943ASXL2c.3805C>T (p.Gln1269Ter)
c.3808C>T (p.Gln1270Ter)
c.3724C>T (p.Gln1242Ter)
c.2257C>T (p.Gln753Ter)
c.3442C>T (p.Gln1148Ter)
c.3028C>T (p.Gln1010Ter)
c.3634C>T (p.Gln1212Ter)
c.3988C>T (p.Gln1330Ter)
ClinVar dbSNP
2g.25742529G>CCA346075946ASXL2c.3805C>G (p.Gln1269Glu)
c.3808C>G (p.Gln1270Glu)
c.3724C>G (p.Gln1242Glu)
c.2257C>G (p.Gln753Glu)
c.3442C>G (p.Gln1148Glu)
c.3028C>G (p.Gln1010Glu)
c.3634C>G (p.Gln1212Glu)
c.3988C>G (p.Gln1330Glu)
2g.25742529G>TCA346075947ASXL2c.3805C>A (p.Gln1269Lys)
c.3808C>A (p.Gln1270Lys)
c.3724C>A (p.Gln1242Lys)
c.2257C>A (p.Gln753Lys)
c.3442C>A (p.Gln1148Lys)
c.3028C>A (p.Gln1010Lys)
c.3634C>A (p.Gln1212Lys)
c.3988C>A (p.Gln1330Lys)
2g.25742530T>ACA425353713ASXL2c.3804A>T (p.Ala1268=)
c.3807A>T (p.Ala1269=)
c.3723A>T (p.Ala1241=)
c.2256A>T (p.Ala752=)
c.3441A>T (p.Ala1147=)
c.3027A>T (p.Ala1009=)
c.3633A>T (p.Ala1211=)
c.3987A>T (p.Ala1329=)
2g.25742530T>CCA43734322ASXL2c.3804A>G (p.Ala1268=)
c.3807A>G (p.Ala1269=)
c.3723A>G (p.Ala1241=)
c.2256A>G (p.Ala752=)
c.3441A>G (p.Ala1147=)
c.3027A>G (p.Ala1009=)
c.3633A>G (p.Ala1211=)
c.3987A>G (p.Ala1329=)
dbSNP
2g.25742530T>GCA425353714ASXL2c.3804A>C (p.Ala1268=)
c.3807A>C (p.Ala1269=)
c.3723A>C (p.Ala1241=)
c.2256A>C (p.Ala752=)
c.3441A>C (p.Ala1147=)
c.3027A>C (p.Ala1009=)
c.3633A>C (p.Ala1211=)
c.3987A>C (p.Ala1329=)
2g.25742530T=CA1239490513ASXL2c.3804A= (p.Ala1268=)
c.3807A= (p.Ala1269=)
c.3723A= (p.Ala1241=)
c.2256A= (p.Ala752=)
c.3441A= (p.Ala1147=)
c.3027A= (p.Ala1009=)
c.3633A= (p.Ala1211=)
c.3987A= (p.Ala1329=)
2g.25742531G>ACA346075955ASXL2c.3803C>T (p.Ala1268Val)
c.3806C>T (p.Ala1269Val)
c.3722C>T (p.Ala1241Val)
c.2255C>T (p.Ala752Val)
c.3440C>T (p.Ala1147Val)
c.3026C>T (p.Ala1009Val)
c.3632C>T (p.Ala1211Val)
c.3986C>T (p.Ala1329Val)
2g.25742531G>CCA346075958ASXL2c.3803C>G (p.Ala1268Gly)
c.3806C>G (p.Ala1269Gly)
c.3722C>G (p.Ala1241Gly)
c.2255C>G (p.Ala752Gly)
c.3440C>G (p.Ala1147Gly)
c.3026C>G (p.Ala1009Gly)
c.3632C>G (p.Ala1211Gly)
c.3986C>G (p.Ala1329Gly)
2g.25742531G>TCA346075956ASXL2c.3803C>A (p.Ala1268Glu)
c.3806C>A (p.Ala1269Glu)
c.3722C>A (p.Ala1241Glu)
c.2255C>A (p.Ala752Glu)
c.3440C>A (p.Ala1147Glu)
c.3026C>A (p.Ala1009Glu)
c.3632C>A (p.Ala1211Glu)
c.3986C>A (p.Ala1329Glu)
2g.25742532C>ACA346075962ASXL2c.3802G>T (p.Ala1268Ser)
c.3805G>T (p.Ala1269Ser)
c.3721G>T (p.Ala1241Ser)
c.2254G>T (p.Ala752Ser)
c.3439G>T (p.Ala1147Ser)
c.3025G>T (p.Ala1009Ser)
c.3631G>T (p.Ala1211Ser)
c.3985G>T (p.Ala1329Ser)
2g.25742532C>GCA346075964ASXL2c.3802G>C (p.Ala1268Pro)
c.3805G>C (p.Ala1269Pro)
c.3721G>C (p.Ala1241Pro)
c.2254G>C (p.Ala752Pro)
c.3439G>C (p.Ala1147Pro)
c.3025G>C (p.Ala1009Pro)
c.3631G>C (p.Ala1211Pro)
c.3985G>C (p.Ala1329Pro)
2g.25742532C>TCA346075966ASXL2c.3802G>A (p.Ala1268Thr)
c.3805G>A (p.Ala1269Thr)
c.3721G>A (p.Ala1241Thr)
c.2254G>A (p.Ala752Thr)
c.3439G>A (p.Ala1147Thr)
c.3025G>A (p.Ala1009Thr)
c.3631G>A (p.Ala1211Thr)
c.3985G>A (p.Ala1329Thr)
2g.25742533T>ACA425353716ASXL2c.3801A>T (p.Ala1267=)
c.3804A>T (p.Ala1268=)
c.3720A>T (p.Ala1240=)
c.2253A>T (p.Ala751=)
c.3438A>T (p.Ala1146=)
c.3024A>T (p.Ala1008=)
c.3630A>T (p.Ala1210=)
c.3984A>T (p.Ala1328=)
2g.25742533T>CCA425353715ASXL2c.3801A>G (p.Ala1267=)
c.3804A>G (p.Ala1268=)
c.3720A>G (p.Ala1240=)
c.2253A>G (p.Ala751=)
c.3438A>G (p.Ala1146=)
c.3024A>G (p.Ala1008=)
c.3630A>G (p.Ala1210=)
c.3984A>G (p.Ala1328=)
2g.25742533T>GCA1557421ASXL2c.3801A>C (p.Ala1267=)
c.3804A>C (p.Ala1268=)
c.3720A>C (p.Ala1240=)
c.2253A>C (p.Ala751=)
c.3438A>C (p.Ala1146=)
c.3024A>C (p.Ala1008=)
c.3630A>C (p.Ala1210=)
c.3984A>C (p.Ala1328=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742533T=CA1239490514ASXL2c.3801A= (p.Ala1267=)
c.3804A= (p.Ala1268=)
c.3720A= (p.Ala1240=)
c.2253A= (p.Ala751=)
c.3438A= (p.Ala1146=)
c.3024A= (p.Ala1008=)
c.3630A= (p.Ala1210=)
c.3984A= (p.Ala1328=)
2g.25742534G>ACA346075972ASXL2c.3800C>T (p.Ala1267Val)
c.3803C>T (p.Ala1268Val)
c.3719C>T (p.Ala1240Val)
c.2252C>T (p.Ala751Val)
c.3437C>T (p.Ala1146Val)
c.3023C>T (p.Ala1008Val)
c.3629C>T (p.Ala1210Val)
c.3983C>T (p.Ala1328Val)
gnomAD v4
2g.25742534G>CCA346075978ASXL2c.3800C>G (p.Ala1267Gly)
c.3803C>G (p.Ala1268Gly)
c.3719C>G (p.Ala1240Gly)
c.2252C>G (p.Ala751Gly)
c.3437C>G (p.Ala1146Gly)
c.3023C>G (p.Ala1008Gly)
c.3629C>G (p.Ala1210Gly)
c.3983C>G (p.Ala1328Gly)
2g.25742534G>TCA346075975ASXL2c.3800C>A (p.Ala1267Glu)
c.3803C>A (p.Ala1268Glu)
c.3719C>A (p.Ala1240Glu)
c.2252C>A (p.Ala751Glu)
c.3437C>A (p.Ala1146Glu)
c.3023C>A (p.Ala1008Glu)
c.3629C>A (p.Ala1210Glu)
c.3983C>A (p.Ala1328Glu)
2g.25742535C>ACA346075980ASXL2c.3799G>T (p.Ala1267Ser)
c.3802G>T (p.Ala1268Ser)
c.3718G>T (p.Ala1240Ser)
c.2251G>T (p.Ala751Ser)
c.3436G>T (p.Ala1146Ser)
c.3022G>T (p.Ala1008Ser)
c.3628G>T (p.Ala1210Ser)
c.3982G>T (p.Ala1328Ser)
gnomAD v4
2g.25742535C>GCA346075983ASXL2c.3799G>C (p.Ala1267Pro)
c.3802G>C (p.Ala1268Pro)
c.3718G>C (p.Ala1240Pro)
c.2251G>C (p.Ala751Pro)
c.3436G>C (p.Ala1146Pro)
c.3022G>C (p.Ala1008Pro)
c.3628G>C (p.Ala1210Pro)
c.3982G>C (p.Ala1328Pro)
2g.25742535C>TCA346075986ASXL2c.3799G>A (p.Ala1267Thr)
c.3802G>A (p.Ala1268Thr)
c.3718G>A (p.Ala1240Thr)
c.2251G>A (p.Ala751Thr)
c.3436G>A (p.Ala1146Thr)
c.3022G>A (p.Ala1008Thr)
c.3628G>A (p.Ala1210Thr)
c.3982G>A (p.Ala1328Thr)
2g.25742536C>ACA346075988ASXL2c.3798G>T (p.Gln1266His)
c.3801G>T (p.Gln1267His)
c.3717G>T (p.Gln1239His)
c.2250G>T (p.Gln750His)
c.3435G>T (p.Gln1145His)
c.3021G>T (p.Gln1007His)
c.3627G>T (p.Gln1209His)
c.3981G>T (p.Gln1327His)
2g.25742536C=CA1239490515ASXL2c.3798G= (p.Gln1266=)
c.3801G= (p.Gln1267=)
c.3717G= (p.Gln1239=)
c.2250G= (p.Gln750=)
c.3435G= (p.Gln1145=)
c.3021G= (p.Gln1007=)
c.3627G= (p.Gln1209=)
c.3981G= (p.Gln1327=)
2g.25742536C>GCA346075992ASXL2c.3798G>C (p.Gln1266His)
c.3801G>C (p.Gln1267His)
c.3717G>C (p.Gln1239His)
c.2250G>C (p.Gln750His)
c.3435G>C (p.Gln1145His)
c.3021G>C (p.Gln1007His)
c.3627G>C (p.Gln1209His)
c.3981G>C (p.Gln1327His)
dbSNP gnomAD v2
2g.25742536C>TCA425353717ASXL2c.3798G>A (p.Gln1266=)
c.3801G>A (p.Gln1267=)
c.3717G>A (p.Gln1239=)
c.2250G>A (p.Gln750=)
c.3435G>A (p.Gln1145=)
c.3021G>A (p.Gln1007=)
c.3627G>A (p.Gln1209=)
c.3981G>A (p.Gln1327=)
2g.25742537T>ACA346075995ASXL2c.3797A>T (p.Gln1266Leu)
c.3800A>T (p.Gln1267Leu)
c.3716A>T (p.Gln1239Leu)
c.2249A>T (p.Gln750Leu)
c.3434A>T (p.Gln1145Leu)
c.3020A>T (p.Gln1007Leu)
c.3626A>T (p.Gln1209Leu)
c.3980A>T (p.Gln1327Leu)
2g.25742537T>CCA346075997ASXL2c.3797A>G (p.Gln1266Arg)
c.3800A>G (p.Gln1267Arg)
c.3716A>G (p.Gln1239Arg)
c.2249A>G (p.Gln750Arg)
c.3434A>G (p.Gln1145Arg)
c.3020A>G (p.Gln1007Arg)
c.3626A>G (p.Gln1209Arg)
c.3980A>G (p.Gln1327Arg)
gnomAD v4
2g.25742537T>GCA346075999ASXL2c.3797A>C (p.Gln1266Pro)
c.3800A>C (p.Gln1267Pro)
c.3716A>C (p.Gln1239Pro)
c.2249A>C (p.Gln750Pro)
c.3434A>C (p.Gln1145Pro)
c.3020A>C (p.Gln1007Pro)
c.3626A>C (p.Gln1209Pro)
c.3980A>C (p.Gln1327Pro)
2g.25742538G>ACA346076004ASXL2c.3796C>T (p.Gln1266Ter)
c.3799C>T (p.Gln1267Ter)
c.3715C>T (p.Gln1239Ter)
c.2248C>T (p.Gln750Ter)
c.3433C>T (p.Gln1145Ter)
c.3019C>T (p.Gln1007Ter)
c.3625C>T (p.Gln1209Ter)
c.3979C>T (p.Gln1327Ter)
COSMIC COSMIC
2g.25742538G>CCA346076006ASXL2c.3796C>G (p.Gln1266Glu)
c.3799C>G (p.Gln1267Glu)
c.3715C>G (p.Gln1239Glu)
c.2248C>G (p.Gln750Glu)
c.3433C>G (p.Gln1145Glu)
c.3019C>G (p.Gln1007Glu)
c.3625C>G (p.Gln1209Glu)
c.3979C>G (p.Gln1327Glu)
2g.25742538G>TCA346076008ASXL2c.3796C>A (p.Gln1266Lys)
c.3799C>A (p.Gln1267Lys)
c.3715C>A (p.Gln1239Lys)
c.2248C>A (p.Gln750Lys)
c.3433C>A (p.Gln1145Lys)
c.3019C>A (p.Gln1007Lys)
c.3625C>A (p.Gln1209Lys)
c.3979C>A (p.Gln1327Lys)
2g.25742539A>CCA346076015ASXL2c.3795T>G (p.Ile1265Met)
c.3798T>G (p.Ile1266Met)
c.3714T>G (p.Ile1238Met)
c.2247T>G (p.Ile749Met)
c.3432T>G (p.Ile1144Met)
c.3018T>G (p.Ile1006Met)
c.3624T>G (p.Ile1208Met)
c.3978T>G (p.Ile1326Met)
2g.25742539A>GCA425353718ASXL2c.3795T>C (p.Ile1265=)
c.3798T>C (p.Ile1266=)
c.3714T>C (p.Ile1238=)
c.2247T>C (p.Ile749=)
c.3432T>C (p.Ile1144=)
c.3018T>C (p.Ile1006=)
c.3624T>C (p.Ile1208=)
c.3978T>C (p.Ile1326=)
2g.25742539A>TCA425353719ASXL2c.3795T>A (p.Ile1265=)
c.3798T>A (p.Ile1266=)
c.3714T>A (p.Ile1238=)
c.2247T>A (p.Ile749=)
c.3432T>A (p.Ile1144=)
c.3018T>A (p.Ile1006=)
c.3624T>A (p.Ile1208=)
c.3978T>A (p.Ile1326=)
2g.25742540A>CCA346076026ASXL2c.3794T>G (p.Ile1265Ser)
c.3797T>G (p.Ile1266Ser)
c.3713T>G (p.Ile1238Ser)
c.2246T>G (p.Ile749Ser)
c.3431T>G (p.Ile1144Ser)
c.3017T>G (p.Ile1006Ser)
c.3623T>G (p.Ile1208Ser)
c.3977T>G (p.Ile1326Ser)
2g.25742540A>GCA346076019ASXL2c.3794T>C (p.Ile1265Thr)
c.3797T>C (p.Ile1266Thr)
c.3713T>C (p.Ile1238Thr)
c.2246T>C (p.Ile749Thr)
c.3431T>C (p.Ile1144Thr)
c.3017T>C (p.Ile1006Thr)
c.3623T>C (p.Ile1208Thr)
c.3977T>C (p.Ile1326Thr)
2g.25742540A>TCA346076022ASXL2c.3794T>A (p.Ile1265Asn)
c.3797T>A (p.Ile1266Asn)
c.3713T>A (p.Ile1238Asn)
c.2246T>A (p.Ile749Asn)
c.3431T>A (p.Ile1144Asn)
c.3017T>A (p.Ile1006Asn)
c.3623T>A (p.Ile1208Asn)
c.3977T>A (p.Ile1326Asn)
2g.25742541T>ACA346076031ASXL2c.3793A>T (p.Ile1265Phe)
c.3796A>T (p.Ile1266Phe)
c.3712A>T (p.Ile1238Phe)
c.2245A>T (p.Ile749Phe)
c.3430A>T (p.Ile1144Phe)
c.3016A>T (p.Ile1006Phe)
c.3622A>T (p.Ile1208Phe)
c.3976A>T (p.Ile1326Phe)
gnomAD v4
2g.25742541T>CCA346076033ASXL2c.3793A>G (p.Ile1265Val)
c.3796A>G (p.Ile1266Val)
c.3712A>G (p.Ile1238Val)
c.2245A>G (p.Ile749Val)
c.3430A>G (p.Ile1144Val)
c.3016A>G (p.Ile1006Val)
c.3622A>G (p.Ile1208Val)
c.3976A>G (p.Ile1326Val)
ClinVar dbSNP
2g.25742541T>GCA346076035ASXL2c.3793A>C (p.Ile1265Leu)
c.3796A>C (p.Ile1266Leu)
c.3712A>C (p.Ile1238Leu)
c.2245A>C (p.Ile749Leu)
c.3430A>C (p.Ile1144Leu)
c.3016A>C (p.Ile1006Leu)
c.3622A>C (p.Ile1208Leu)
c.3976A>C (p.Ile1326Leu)
2g.25742541T=CA1239490516ASXL2c.3793A= (p.Ile1265=)
c.3796A= (p.Ile1266=)
c.3712A= (p.Ile1238=)
c.2245A= (p.Ile749=)
c.3430A= (p.Ile1144=)
c.3016A= (p.Ile1006=)
c.3622A= (p.Ile1208=)
c.3976A= (p.Ile1326=)
2g.25742542T>ACA346076038ASXL2c.3792A>T (p.Leu1264Phe)
c.3795A>T (p.Leu1265Phe)
c.3711A>T (p.Leu1237Phe)
c.2244A>T (p.Leu748Phe)
c.3429A>T (p.Leu1143Phe)
c.3015A>T (p.Leu1005Phe)
c.3621A>T (p.Leu1207Phe)
c.3975A>T (p.Leu1325Phe)
2g.25742542T>CCA425353720ASXL2c.3792A>G (p.Leu1264=)
c.3795A>G (p.Leu1265=)
c.3711A>G (p.Leu1237=)
c.2244A>G (p.Leu748=)
c.3429A>G (p.Leu1143=)
c.3015A>G (p.Leu1005=)
c.3621A>G (p.Leu1207=)
c.3975A>G (p.Leu1325=)
gnomAD v4
2g.25742542T>GCA346076041ASXL2c.3792A>C (p.Leu1264Phe)
c.3795A>C (p.Leu1265Phe)
c.3711A>C (p.Leu1237Phe)
c.2244A>C (p.Leu748Phe)
c.3429A>C (p.Leu1143Phe)
c.3015A>C (p.Leu1005Phe)
c.3621A>C (p.Leu1207Phe)
c.3975A>C (p.Leu1325Phe)
2g.25742543A>CCA346076044ASXL2c.3791T>G (p.Leu1264Ter)
c.3794T>G (p.Leu1265Ter)
c.3710T>G (p.Leu1237Ter)
c.2243T>G (p.Leu748Ter)
c.3428T>G (p.Leu1143Ter)
c.3014T>G (p.Leu1005Ter)
c.3620T>G (p.Leu1207Ter)
c.3974T>G (p.Leu1325Ter)
2g.25742543A>GCA346076053ASXL2c.3791T>C (p.Leu1264Ser)
c.3794T>C (p.Leu1265Ser)
c.3710T>C (p.Leu1237Ser)
c.2243T>C (p.Leu748Ser)
c.3428T>C (p.Leu1143Ser)
c.3014T>C (p.Leu1005Ser)
c.3620T>C (p.Leu1207Ser)
c.3974T>C (p.Leu1325Ser)
2g.25742543A>TCA346076046ASXL2c.3791T>A (p.Leu1264Ter)
c.3794T>A (p.Leu1265Ter)
c.3710T>A (p.Leu1237Ter)
c.2243T>A (p.Leu748Ter)
c.3428T>A (p.Leu1143Ter)
c.3014T>A (p.Leu1005Ter)
c.3620T>A (p.Leu1207Ter)
c.3974T>A (p.Leu1325Ter)
2g.25742544A>CCA346076055ASXL2c.3790T>G (p.Leu1264Val)
c.3793T>G (p.Leu1265Val)
c.3709T>G (p.Leu1237Val)
c.2242T>G (p.Leu748Val)
c.3427T>G (p.Leu1143Val)
c.3013T>G (p.Leu1005Val)
c.3619T>G (p.Leu1207Val)
c.3973T>G (p.Leu1325Val)
2g.25742544A>GCA425353721ASXL2c.3790T>C (p.Leu1264=)
c.3793T>C (p.Leu1265=)
c.3709T>C (p.Leu1237=)
c.2242T>C (p.Leu748=)
c.3427T>C (p.Leu1143=)
c.3013T>C (p.Leu1005=)
c.3619T>C (p.Leu1207=)
c.3973T>C (p.Leu1325=)
2g.25742544A>TCA346076058ASXL2c.3790T>A (p.Leu1264Ile)
c.3793T>A (p.Leu1265Ile)
c.3709T>A (p.Leu1237Ile)
c.2242T>A (p.Leu748Ile)
c.3427T>A (p.Leu1143Ile)
c.3013T>A (p.Leu1005Ile)
c.3619T>A (p.Leu1207Ile)
c.3973T>A (p.Leu1325Ile)
2g.25742545A>CCA346076061ASXL2c.3789T>G (p.Asp1263Glu)
c.3792T>G (p.Asp1264Glu)
c.3708T>G (p.Asp1236Glu)
c.2241T>G (p.Asp747Glu)
c.3426T>G (p.Asp1142Glu)
c.3012T>G (p.Asp1004Glu)
c.3618T>G (p.Asp1206Glu)
c.3972T>G (p.Asp1324Glu)
2g.25742545A>GCA425353722ASXL2c.3789T>C (p.Asp1263=)
c.3792T>C (p.Asp1264=)
c.3708T>C (p.Asp1236=)
c.2241T>C (p.Asp747=)
c.3426T>C (p.Asp1142=)
c.3012T>C (p.Asp1004=)
c.3618T>C (p.Asp1206=)
c.3972T>C (p.Asp1324=)
2g.25742545A>TCA346076064ASXL2c.3789T>A (p.Asp1263Glu)
c.3792T>A (p.Asp1264Glu)
c.3708T>A (p.Asp1236Glu)
c.2241T>A (p.Asp747Glu)
c.3426T>A (p.Asp1142Glu)
c.3012T>A (p.Asp1004Glu)
c.3618T>A (p.Asp1206Glu)
c.3972T>A (p.Asp1324Glu)
2g.25742546T>ACA346076073ASXL2c.3788A>T (p.Asp1263Val)
c.3791A>T (p.Asp1264Val)
c.3707A>T (p.Asp1236Val)
c.2240A>T (p.Asp747Val)
c.3425A>T (p.Asp1142Val)
c.3011A>T (p.Asp1004Val)
c.3617A>T (p.Asp1206Val)
c.3971A>T (p.Asp1324Val)
2g.25742546T>CCA346076067ASXL2c.3788A>G (p.Asp1263Gly)
c.3791A>G (p.Asp1264Gly)
c.3707A>G (p.Asp1236Gly)
c.2240A>G (p.Asp747Gly)
c.3425A>G (p.Asp1142Gly)
c.3011A>G (p.Asp1004Gly)
c.3617A>G (p.Asp1206Gly)
c.3971A>G (p.Asp1324Gly)
2g.25742546T>GCA346076070ASXL2c.3788A>C (p.Asp1263Ala)
c.3791A>C (p.Asp1264Ala)
c.3707A>C (p.Asp1236Ala)
c.2240A>C (p.Asp747Ala)
c.3425A>C (p.Asp1142Ala)
c.3011A>C (p.Asp1004Ala)
c.3617A>C (p.Asp1206Ala)
c.3971A>C (p.Asp1324Ala)
2g.25742547C>ACA346076075ASXL2c.3787G>T (p.Asp1263Tyr)
c.3790G>T (p.Asp1264Tyr)
c.3706G>T (p.Asp1236Tyr)
c.2239G>T (p.Asp747Tyr)
c.3424G>T (p.Asp1142Tyr)
c.3010G>T (p.Asp1004Tyr)
c.3616G>T (p.Asp1206Tyr)
c.3970G>T (p.Asp1324Tyr)
2g.25742547C>GCA346076078ASXL2c.3787G>C (p.Asp1263His)
c.3790G>C (p.Asp1264His)
c.3706G>C (p.Asp1236His)
c.2239G>C (p.Asp747His)
c.3424G>C (p.Asp1142His)
c.3010G>C (p.Asp1004His)
c.3616G>C (p.Asp1206His)
c.3970G>C (p.Asp1324His)
2g.25742547C>TCA346076079ASXL2c.3787G>A (p.Asp1263Asn)
c.3790G>A (p.Asp1264Asn)
c.3706G>A (p.Asp1236Asn)
c.2239G>A (p.Asp747Asn)
c.3424G>A (p.Asp1142Asn)
c.3010G>A (p.Asp1004Asn)
c.3616G>A (p.Asp1206Asn)
c.3970G>A (p.Asp1324Asn)
2g.25742548T>ACA346076080ASXL2c.3786A>T (p.Arg1262Ser)
c.3789A>T (p.Arg1263Ser)
c.3705A>T (p.Arg1235Ser)
c.2238A>T (p.Arg746Ser)
c.3423A>T (p.Arg1141Ser)
c.3009A>T (p.Arg1003Ser)
c.3615A>T (p.Arg1205Ser)
c.3969A>T (p.Arg1323Ser)
2g.25742548T>CCA425353723ASXL2c.3786A>G (p.Arg1262=)
c.3789A>G (p.Arg1263=)
c.3705A>G (p.Arg1235=)
c.2238A>G (p.Arg746=)
c.3423A>G (p.Arg1141=)
c.3009A>G (p.Arg1003=)
c.3615A>G (p.Arg1205=)
c.3969A>G (p.Arg1323=)
gnomAD v4
2g.25742548T>GCA346076081ASXL2c.3786A>C (p.Arg1262Ser)
c.3789A>C (p.Arg1263Ser)
c.3705A>C (p.Arg1235Ser)
c.2238A>C (p.Arg746Ser)
c.3423A>C (p.Arg1141Ser)
c.3009A>C (p.Arg1003Ser)
c.3615A>C (p.Arg1205Ser)
c.3969A>C (p.Arg1323Ser)
2g.25742549C>ACA346076082ASXL2c.3785G>T (p.Arg1262Ile)
c.3788G>T (p.Arg1263Ile)
c.3704G>T (p.Arg1235Ile)
c.2237G>T (p.Arg746Ile)
c.3422G>T (p.Arg1141Ile)
c.3008G>T (p.Arg1003Ile)
c.3614G>T (p.Arg1205Ile)
c.3968G>T (p.Arg1323Ile)
2g.25742549C>GCA346076084ASXL2c.3785G>C (p.Arg1262Thr)
c.3788G>C (p.Arg1263Thr)
c.3704G>C (p.Arg1235Thr)
c.2237G>C (p.Arg746Thr)
c.3422G>C (p.Arg1141Thr)
c.3008G>C (p.Arg1003Thr)
c.3614G>C (p.Arg1205Thr)
c.3968G>C (p.Arg1323Thr)
2g.25742549C>TCA346076086ASXL2c.3785G>A (p.Arg1262Lys)
c.3788G>A (p.Arg1263Lys)
c.3704G>A (p.Arg1235Lys)
c.2237G>A (p.Arg746Lys)
c.3422G>A (p.Arg1141Lys)
c.3008G>A (p.Arg1003Lys)
c.3614G>A (p.Arg1205Lys)
c.3968G>A (p.Arg1323Lys)
2g.25742550T>ACA346076088ASXL2c.3784A>T (p.Arg1262Ter)
c.3787A>T (p.Arg1263Ter)
c.3703A>T (p.Arg1235Ter)
c.2236A>T (p.Arg746Ter)
c.3421A>T (p.Arg1141Ter)
c.3007A>T (p.Arg1003Ter)
c.3613A>T (p.Arg1205Ter)
c.3967A>T (p.Arg1323Ter)
2g.25742550T>CCA346076089ASXL2c.3784A>G (p.Arg1262Gly)
c.3787A>G (p.Arg1263Gly)
c.3703A>G (p.Arg1235Gly)
c.2236A>G (p.Arg746Gly)
c.3421A>G (p.Arg1141Gly)
c.3007A>G (p.Arg1003Gly)
c.3613A>G (p.Arg1205Gly)
c.3967A>G (p.Arg1323Gly)
dbSNP gnomAD v2 gnomAD v4
2g.25742550T>GCA425353724ASXL2c.3784A>C (p.Arg1262=)
c.3787A>C (p.Arg1263=)
c.3703A>C (p.Arg1235=)
c.2236A>C (p.Arg746=)
c.3421A>C (p.Arg1141=)
c.3007A>C (p.Arg1003=)
c.3613A>C (p.Arg1205=)
c.3967A>C (p.Arg1323=)
2g.25742550T=CA1239490517ASXL2c.3784A= (p.Arg1262=)
c.3787A= (p.Arg1263=)
c.3703A= (p.Arg1235=)
c.2236A= (p.Arg746=)
c.3421A= (p.Arg1141=)
c.3007A= (p.Arg1003=)
c.3613A= (p.Arg1205=)
c.3967A= (p.Arg1323=)
2g.25742551G>ACA425353725ASXL2c.3783C>T (p.Ala1261=)
c.3786C>T (p.Ala1262=)
c.3702C>T (p.Ala1234=)
c.2235C>T (p.Ala745=)
c.3420C>T (p.Ala1140=)
c.3006C>T (p.Ala1002=)
c.3612C>T (p.Ala1204=)
c.3966C>T (p.Ala1322=)
dbSNP
2g.25742551G>CCA425353726ASXL2c.3783C>G (p.Ala1261=)
c.3786C>G (p.Ala1262=)
c.3702C>G (p.Ala1234=)
c.2235C>G (p.Ala745=)
c.3420C>G (p.Ala1140=)
c.3006C>G (p.Ala1002=)
c.3612C>G (p.Ala1204=)
c.3966C>G (p.Ala1322=)
2g.25742551G=CA1239490518ASXL2c.3783C= (p.Ala1261=)
c.3786C= (p.Ala1262=)
c.3702C= (p.Ala1234=)
c.2235C= (p.Ala745=)
c.3420C= (p.Ala1140=)
c.3006C= (p.Ala1002=)
c.3612C= (p.Ala1204=)
c.3966C= (p.Ala1322=)
2g.25742551G>TCA425353727ASXL2c.3783C>A (p.Ala1261=)
c.3786C>A (p.Ala1262=)
c.3702C>A (p.Ala1234=)
c.2235C>A (p.Ala745=)
c.3420C>A (p.Ala1140=)
c.3006C>A (p.Ala1002=)
c.3612C>A (p.Ala1204=)
c.3966C>A (p.Ala1322=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742552G>ACA346076090ASXL2c.3782C>T (p.Ala1261Val)
c.3785C>T (p.Ala1262Val)
c.3701C>T (p.Ala1234Val)
c.2234C>T (p.Ala745Val)
c.3419C>T (p.Ala1140Val)
c.3005C>T (p.Ala1002Val)
c.3611C>T (p.Ala1204Val)
c.3965C>T (p.Ala1322Val)
2g.25742552G>CCA346076091ASXL2c.3782C>G (p.Ala1261Gly)
c.3785C>G (p.Ala1262Gly)
c.3701C>G (p.Ala1234Gly)
c.2234C>G (p.Ala745Gly)
c.3419C>G (p.Ala1140Gly)
c.3005C>G (p.Ala1002Gly)
c.3611C>G (p.Ala1204Gly)
c.3965C>G (p.Ala1322Gly)
2g.25742552G>TCA346076093ASXL2c.3782C>A (p.Ala1261Asp)
c.3785C>A (p.Ala1262Asp)
c.3701C>A (p.Ala1234Asp)
c.2234C>A (p.Ala745Asp)
c.3419C>A (p.Ala1140Asp)
c.3005C>A (p.Ala1002Asp)
c.3611C>A (p.Ala1204Asp)
c.3965C>A (p.Ala1322Asp)
2g.25742553C>ACA346076095ASXL2c.3781G>T (p.Ala1261Ser)
c.3784G>T (p.Ala1262Ser)
c.3700G>T (p.Ala1234Ser)
c.2233G>T (p.Ala745Ser)
c.3418G>T (p.Ala1140Ser)
c.3004G>T (p.Ala1002Ser)
c.3610G>T (p.Ala1204Ser)
c.3964G>T (p.Ala1322Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742553C=CA1239490519ASXL2c.3781G= (p.Ala1261=)
c.3784G= (p.Ala1262=)
c.3700G= (p.Ala1234=)
c.2233G= (p.Ala745=)
c.3418G= (p.Ala1140=)
c.3004G= (p.Ala1002=)
c.3610G= (p.Ala1204=)
c.3964G= (p.Ala1322=)
2g.25742553C>GCA346076098ASXL2c.3781G>C (p.Ala1261Pro)
c.3784G>C (p.Ala1262Pro)
c.3700G>C (p.Ala1234Pro)
c.2233G>C (p.Ala745Pro)
c.3418G>C (p.Ala1140Pro)
c.3004G>C (p.Ala1002Pro)
c.3610G>C (p.Ala1204Pro)
c.3964G>C (p.Ala1322Pro)
2g.25742553C>TCA346076096ASXL2c.3781G>A (p.Ala1261Thr)
c.3784G>A (p.Ala1262Thr)
c.3700G>A (p.Ala1234Thr)
c.2233G>A (p.Ala745Thr)
c.3418G>A (p.Ala1140Thr)
c.3004G>A (p.Ala1002Thr)
c.3610G>A (p.Ala1204Thr)
c.3964G>A (p.Ala1322Thr)
2g.25742553_25742563delCA2581934947ASXL2c.3771_3781del (p.Glu1257AspfsTer19)
c.3774_3784del (p.Glu1258AspfsTer19)
c.3690_3700del (p.Glu1230AspfsTer19)
c.2223_2233del (p.Glu741AspfsTer19)
c.3408_3418del (p.Glu1136AspfsTer19)
c.2994_3004del (p.Glu998AspfsTer19)
c.3600_3610del (p.Glu1200AspfsTer19)
c.3954_3964del (p.Glu1318AspfsTer19)
2g.25742554T>ACA425353728ASXL2c.3780A>T (p.Leu1260=)
c.3783A>T (p.Leu1261=)
c.3699A>T (p.Leu1233=)
c.2232A>T (p.Leu744=)
c.3417A>T (p.Leu1139=)
c.3003A>T (p.Leu1001=)
c.3609A>T (p.Leu1203=)
c.3963A>T (p.Leu1321=)
2g.25742554T>CCA425353730ASXL2c.3780A>G (p.Leu1260=)
c.3783A>G (p.Leu1261=)
c.3699A>G (p.Leu1233=)
c.2232A>G (p.Leu744=)
c.3417A>G (p.Leu1139=)
c.3003A>G (p.Leu1001=)
c.3609A>G (p.Leu1203=)
c.3963A>G (p.Leu1321=)
2g.25742554T>GCA425353729ASXL2c.3780A>C (p.Leu1260=)
c.3783A>C (p.Leu1261=)
c.3699A>C (p.Leu1233=)
c.2232A>C (p.Leu744=)
c.3417A>C (p.Leu1139=)
c.3003A>C (p.Leu1001=)
c.3609A>C (p.Leu1203=)
c.3963A>C (p.Leu1321=)
2g.25742555A>CCA346076101ASXL2c.3779T>G (p.Leu1260Arg)
c.3782T>G (p.Leu1261Arg)
c.3698T>G (p.Leu1233Arg)
c.2231T>G (p.Leu744Arg)
c.3416T>G (p.Leu1139Arg)
c.3002T>G (p.Leu1001Arg)
c.3608T>G (p.Leu1203Arg)
c.3962T>G (p.Leu1321Arg)
2g.25742555A>GCA346076103ASXL2c.3779T>C (p.Leu1260Pro)
c.3782T>C (p.Leu1261Pro)
c.3698T>C (p.Leu1233Pro)
c.2231T>C (p.Leu744Pro)
c.3416T>C (p.Leu1139Pro)
c.3002T>C (p.Leu1001Pro)
c.3608T>C (p.Leu1203Pro)
c.3962T>C (p.Leu1321Pro)
2g.25742555A>TCA346076107ASXL2c.3779T>A (p.Leu1260Gln)
c.3782T>A (p.Leu1261Gln)
c.3698T>A (p.Leu1233Gln)
c.2231T>A (p.Leu744Gln)
c.3416T>A (p.Leu1139Gln)
c.3002T>A (p.Leu1001Gln)
c.3608T>A (p.Leu1203Gln)
c.3962T>A (p.Leu1321Gln)
2g.25742556G>ACA425353731ASXL2c.3778C>T (p.Leu1260=)
c.3781C>T (p.Leu1261=)
c.3697C>T (p.Leu1233=)
c.2230C>T (p.Leu744=)
c.3415C>T (p.Leu1139=)
c.3001C>T (p.Leu1001=)
c.3607C>T (p.Leu1203=)
c.3961C>T (p.Leu1321=)
2g.25742556G>CCA346076110ASXL2c.3778C>G (p.Leu1260Val)
c.3781C>G (p.Leu1261Val)
c.3697C>G (p.Leu1233Val)
c.2230C>G (p.Leu744Val)
c.3415C>G (p.Leu1139Val)
c.3001C>G (p.Leu1001Val)
c.3607C>G (p.Leu1203Val)
c.3961C>G (p.Leu1321Val)
gnomAD v4
2g.25742556G>TCA346076111ASXL2c.3778C>A (p.Leu1260Ile)
c.3781C>A (p.Leu1261Ile)
c.3697C>A (p.Leu1233Ile)
c.2230C>A (p.Leu744Ile)
c.3415C>A (p.Leu1139Ile)
c.3001C>A (p.Leu1001Ile)
c.3607C>A (p.Leu1203Ile)
c.3961C>A (p.Leu1321Ile)
2g.25742557G>ACA425353732ASXL2c.3777C>T (p.Thr1259=)
c.3780C>T (p.Thr1260=)
c.3696C>T (p.Thr1232=)
c.2229C>T (p.Thr743=)
c.3414C>T (p.Thr1138=)
c.3000C>T (p.Thr1000=)
c.3606C>T (p.Thr1202=)
c.3960C>T (p.Thr1320=)
gnomAD v4
2g.25742557G>CCA425353733ASXL2c.3777C>G (p.Thr1259=)
c.3780C>G (p.Thr1260=)
c.3696C>G (p.Thr1232=)
c.2229C>G (p.Thr743=)
c.3414C>G (p.Thr1138=)
c.3000C>G (p.Thr1000=)
c.3606C>G (p.Thr1202=)
c.3960C>G (p.Thr1320=)
2g.25742557G>TCA425353734ASXL2c.3777C>A (p.Thr1259=)
c.3780C>A (p.Thr1260=)
c.3696C>A (p.Thr1232=)
c.2229C>A (p.Thr743=)
c.3414C>A (p.Thr1138=)
c.3000C>A (p.Thr1000=)
c.3606C>A (p.Thr1202=)
c.3960C>A (p.Thr1320=)
2g.25742558G>ACA346076114ASXL2c.3776C>T (p.Thr1259Ile)
c.3779C>T (p.Thr1260Ile)
c.3695C>T (p.Thr1232Ile)
c.2228C>T (p.Thr743Ile)
c.3413C>T (p.Thr1138Ile)
c.2999C>T (p.Thr1000Ile)
c.3605C>T (p.Thr1202Ile)
c.3959C>T (p.Thr1320Ile)
2g.25742558G>CCA346076117ASXL2c.3776C>G (p.Thr1259Ser)
c.3779C>G (p.Thr1260Ser)
c.3695C>G (p.Thr1232Ser)
c.2228C>G (p.Thr743Ser)
c.3413C>G (p.Thr1138Ser)
c.2999C>G (p.Thr1000Ser)
c.3605C>G (p.Thr1202Ser)
c.3959C>G (p.Thr1320Ser)
gnomAD v4
2g.25742558G>TCA346076120ASXL2c.3776C>A (p.Thr1259Asn)
c.3779C>A (p.Thr1260Asn)
c.3695C>A (p.Thr1232Asn)
c.2228C>A (p.Thr743Asn)
c.3413C>A (p.Thr1138Asn)
c.2999C>A (p.Thr1000Asn)
c.3605C>A (p.Thr1202Asn)
c.3959C>A (p.Thr1320Asn)
2g.25742559T>ACA346076123ASXL2c.3775A>T (p.Thr1259Ser)
c.3778A>T (p.Thr1260Ser)
c.3694A>T (p.Thr1232Ser)
c.2227A>T (p.Thr743Ser)
c.3412A>T (p.Thr1138Ser)
c.2998A>T (p.Thr1000Ser)
c.3604A>T (p.Thr1202Ser)
c.3958A>T (p.Thr1320Ser)
2g.25742559T>CCA346076126ASXL2c.3775A>G (p.Thr1259Ala)
c.3778A>G (p.Thr1260Ala)
c.3694A>G (p.Thr1232Ala)
c.2227A>G (p.Thr743Ala)
c.3412A>G (p.Thr1138Ala)
c.2998A>G (p.Thr1000Ala)
c.3604A>G (p.Thr1202Ala)
c.3958A>G (p.Thr1320Ala)
2g.25742559T>GCA346076127ASXL2c.3775A>C (p.Thr1259Pro)
c.3778A>C (p.Thr1260Pro)
c.3694A>C (p.Thr1232Pro)
c.2227A>C (p.Thr743Pro)
c.3412A>C (p.Thr1138Pro)
c.2998A>C (p.Thr1000Pro)
c.3604A>C (p.Thr1202Pro)
c.3958A>C (p.Thr1320Pro)
dbSNP
2g.25742559T=CA1239490520ASXL2c.3775A= (p.Thr1259=)
c.3778A= (p.Thr1260=)
c.3694A= (p.Thr1232=)
c.2227A= (p.Thr743=)
c.3412A= (p.Thr1138=)
c.2998A= (p.Thr1000=)
c.3604A= (p.Thr1202=)
c.3958A= (p.Thr1320=)
2g.25742560C>ACA346076129ASXL2c.3774G>T (p.Lys1258Asn)
c.3777G>T (p.Lys1259Asn)
c.3693G>T (p.Lys1231Asn)
c.2226G>T (p.Lys742Asn)
c.3411G>T (p.Lys1137Asn)
c.2997G>T (p.Lys999Asn)
c.3603G>T (p.Lys1201Asn)
c.3957G>T (p.Lys1319Asn)
2g.25742560C>GCA346076132ASXL2c.3774G>C (p.Lys1258Asn)
c.3777G>C (p.Lys1259Asn)
c.3693G>C (p.Lys1231Asn)
c.2226G>C (p.Lys742Asn)
c.3411G>C (p.Lys1137Asn)
c.2997G>C (p.Lys999Asn)
c.3603G>C (p.Lys1201Asn)
c.3957G>C (p.Lys1319Asn)
2g.25742560C>TCA425353735ASXL2c.3774G>A (p.Lys1258=)
c.3777G>A (p.Lys1259=)
c.3693G>A (p.Lys1231=)
c.2226G>A (p.Lys742=)
c.3411G>A (p.Lys1137=)
c.2997G>A (p.Lys999=)
c.3603G>A (p.Lys1201=)
c.3957G>A (p.Lys1319=)
2g.25742561T>ACA346076135ASXL2c.3773A>T (p.Lys1258Met)
c.3776A>T (p.Lys1259Met)
c.3692A>T (p.Lys1231Met)
c.2225A>T (p.Lys742Met)
c.3410A>T (p.Lys1137Met)
c.2996A>T (p.Lys999Met)
c.3602A>T (p.Lys1201Met)
c.3956A>T (p.Lys1319Met)
2g.25742561T>CCA346076140ASXL2c.3773A>G (p.Lys1258Arg)
c.3776A>G (p.Lys1259Arg)
c.3692A>G (p.Lys1231Arg)
c.2225A>G (p.Lys742Arg)
c.3410A>G (p.Lys1137Arg)
c.2996A>G (p.Lys999Arg)
c.3602A>G (p.Lys1201Arg)
c.3956A>G (p.Lys1319Arg)
2g.25742561T>GCA346076137ASXL2c.3773A>C (p.Lys1258Thr)
c.3776A>C (p.Lys1259Thr)
c.3692A>C (p.Lys1231Thr)
c.2225A>C (p.Lys742Thr)
c.3410A>C (p.Lys1137Thr)
c.2996A>C (p.Lys999Thr)
c.3602A>C (p.Lys1201Thr)
c.3956A>C (p.Lys1319Thr)
2g.25742562T>ACA346076144ASXL2c.3772A>T (p.Lys1258Ter)
c.3775A>T (p.Lys1259Ter)
c.3691A>T (p.Lys1231Ter)
c.2224A>T (p.Lys742Ter)
c.3409A>T (p.Lys1137Ter)
c.2995A>T (p.Lys999Ter)
c.3601A>T (p.Lys1201Ter)
c.3955A>T (p.Lys1319Ter)
2g.25742562T>CCA346076146ASXL2c.3772A>G (p.Lys1258Glu)
c.3775A>G (p.Lys1259Glu)
c.3691A>G (p.Lys1231Glu)
c.2224A>G (p.Lys742Glu)
c.3409A>G (p.Lys1137Glu)
c.2995A>G (p.Lys999Glu)
c.3601A>G (p.Lys1201Glu)
c.3955A>G (p.Lys1319Glu)
dbSNP gnomAD v3 gnomAD v4
2g.25742562T>GCA346076148ASXL2c.3772A>C (p.Lys1258Gln)
c.3775A>C (p.Lys1259Gln)
c.3691A>C (p.Lys1231Gln)
c.2224A>C (p.Lys742Gln)
c.3409A>C (p.Lys1137Gln)
c.2995A>C (p.Lys999Gln)
c.3601A>C (p.Lys1201Gln)
c.3955A>C (p.Lys1319Gln)
2g.25742562T=CA1239490521ASXL2c.3772A= (p.Lys1258=)
c.3775A= (p.Lys1259=)
c.3691A= (p.Lys1231=)
c.2224A= (p.Lys742=)
c.3409A= (p.Lys1137=)
c.2995A= (p.Lys999=)
c.3601A= (p.Lys1201=)
c.3955A= (p.Lys1319=)
2g.25742563T>ACA346076151ASXL2c.3771A>T (p.Glu1257Asp)
c.3774A>T (p.Glu1258Asp)
c.3690A>T (p.Glu1230Asp)
c.2223A>T (p.Glu741Asp)
c.3408A>T (p.Glu1136Asp)
c.2994A>T (p.Glu998Asp)
c.3600A>T (p.Glu1200Asp)
c.3954A>T (p.Glu1318Asp)
2g.25742563T>CCA425353736ASXL2c.3771A>G (p.Glu1257=)
c.3774A>G (p.Glu1258=)
c.3690A>G (p.Glu1230=)
c.2223A>G (p.Glu741=)
c.3408A>G (p.Glu1136=)
c.2994A>G (p.Glu998=)
c.3600A>G (p.Glu1200=)
c.3954A>G (p.Glu1318=)
2g.25742563T>GCA346076153ASXL2c.3771A>C (p.Glu1257Asp)
c.3774A>C (p.Glu1258Asp)
c.3690A>C (p.Glu1230Asp)
c.2223A>C (p.Glu741Asp)
c.3408A>C (p.Glu1136Asp)
c.2994A>C (p.Glu998Asp)
c.3600A>C (p.Glu1200Asp)
c.3954A>C (p.Glu1318Asp)
gnomAD v4
2g.25742564T>ACA346076157ASXL2c.3770A>T (p.Glu1257Val)
c.3773A>T (p.Glu1258Val)
c.3689A>T (p.Glu1230Val)
c.2222A>T (p.Glu741Val)
c.3407A>T (p.Glu1136Val)
c.2993A>T (p.Glu998Val)
c.3599A>T (p.Glu1200Val)
c.3953A>T (p.Glu1318Val)
2g.25742564T>CCA346076161ASXL2c.3770A>G (p.Glu1257Gly)
c.3773A>G (p.Glu1258Gly)
c.3689A>G (p.Glu1230Gly)
c.2222A>G (p.Glu741Gly)
c.3407A>G (p.Glu1136Gly)
c.2993A>G (p.Glu998Gly)
c.3599A>G (p.Glu1200Gly)
c.3953A>G (p.Glu1318Gly)
gnomAD v4
2g.25742564T>GCA346076164ASXL2c.3770A>C (p.Glu1257Ala)
c.3773A>C (p.Glu1258Ala)
c.3689A>C (p.Glu1230Ala)
c.2222A>C (p.Glu741Ala)
c.3407A>C (p.Glu1136Ala)
c.2993A>C (p.Glu998Ala)
c.3599A>C (p.Glu1200Ala)
c.3953A>C (p.Glu1318Ala)
2g.25742565C>ACA346076168ASXL2c.3769G>T (p.Glu1257Ter)
c.3772G>T (p.Glu1258Ter)
c.3688G>T (p.Glu1230Ter)
c.2221G>T (p.Glu741Ter)
c.3406G>T (p.Glu1136Ter)
c.2992G>T (p.Glu998Ter)
c.3598G>T (p.Glu1200Ter)
c.3952G>T (p.Glu1318Ter)
2g.25742565C>GCA346076169ASXL2c.3769G>C (p.Glu1257Gln)
c.3772G>C (p.Glu1258Gln)
c.3688G>C (p.Glu1230Gln)
c.2221G>C (p.Glu741Gln)
c.3406G>C (p.Glu1136Gln)
c.2992G>C (p.Glu998Gln)
c.3598G>C (p.Glu1200Gln)
c.3952G>C (p.Glu1318Gln)
2g.25742565C>TCA346076172ASXL2c.3769G>A (p.Glu1257Lys)
c.3772G>A (p.Glu1258Lys)
c.3688G>A (p.Glu1230Lys)
c.2221G>A (p.Glu741Lys)
c.3406G>A (p.Glu1136Lys)
c.2992G>A (p.Glu998Lys)
c.3598G>A (p.Glu1200Lys)
c.3952G>A (p.Glu1318Lys)
gnomAD v4
2g.25742566A=CA1239490522ASXL2c.3768T= (p.Asp1256=)
c.3771T= (p.Asp1257=)
c.3687T= (p.Asp1229=)
c.2220T= (p.Asp740=)
c.3405T= (p.Asp1135=)
c.2991T= (p.Asp997=)
c.3597T= (p.Asp1199=)
c.3951T= (p.Asp1317=)
2g.25742566A>CCA346076175ASXL2c.3768T>G (p.Asp1256Glu)
c.3771T>G (p.Asp1257Glu)
c.3687T>G (p.Asp1229Glu)
c.2220T>G (p.Asp740Glu)
c.3405T>G (p.Asp1135Glu)
c.2991T>G (p.Asp997Glu)
c.3597T>G (p.Asp1199Glu)
c.3951T>G (p.Asp1317Glu)
2g.25742566A>GCA425353737ASXL2c.3768T>C (p.Asp1256=)
c.3771T>C (p.Asp1257=)
c.3687T>C (p.Asp1229=)
c.2220T>C (p.Asp740=)
c.3405T>C (p.Asp1135=)
c.2991T>C (p.Asp997=)
c.3597T>C (p.Asp1199=)
c.3951T>C (p.Asp1317=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742566A>TCA1557422ASXL2c.3768T>A (p.Asp1256Glu)
c.3771T>A (p.Asp1257Glu)
c.3687T>A (p.Asp1229Glu)
c.2220T>A (p.Asp740Glu)
c.3405T>A (p.Asp1135Glu)
c.2991T>A (p.Asp997Glu)
c.3597T>A (p.Asp1199Glu)
c.3951T>A (p.Asp1317Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742567T>ACA1557424ASXL2c.3767A>T (p.Asp1256Val)
c.3770A>T (p.Asp1257Val)
c.3686A>T (p.Asp1229Val)
c.2219A>T (p.Asp740Val)
c.3404A>T (p.Asp1135Val)
c.2990A>T (p.Asp997Val)
c.3596A>T (p.Asp1199Val)
c.3950A>T (p.Asp1317Val)
dbSNP ExAC gnomAD v2
2g.25742567T>CCA1557423ASXL2c.3767A>G (p.Asp1256Gly)
c.3770A>G (p.Asp1257Gly)
c.3686A>G (p.Asp1229Gly)
c.2219A>G (p.Asp740Gly)
c.3404A>G (p.Asp1135Gly)
c.2990A>G (p.Asp997Gly)
c.3596A>G (p.Asp1199Gly)
c.3950A>G (p.Asp1317Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742567T>GCA346076182ASXL2c.3767A>C (p.Asp1256Ala)
c.3770A>C (p.Asp1257Ala)
c.3686A>C (p.Asp1229Ala)
c.2219A>C (p.Asp740Ala)
c.3404A>C (p.Asp1135Ala)
c.2990A>C (p.Asp997Ala)
c.3596A>C (p.Asp1199Ala)
c.3950A>C (p.Asp1317Ala)
2g.25742567T=CA1239490523ASXL2c.3767A= (p.Asp1256=)
c.3770A= (p.Asp1257=)
c.3686A= (p.Asp1229=)
c.2219A= (p.Asp740=)
c.3404A= (p.Asp1135=)
c.2990A= (p.Asp997=)
c.3596A= (p.Asp1199=)
c.3950A= (p.Asp1317=)
2g.25742568C>ACA346076188ASXL2c.3766G>T (p.Asp1256Tyr)
c.3769G>T (p.Asp1257Tyr)
c.3685G>T (p.Asp1229Tyr)
c.2218G>T (p.Asp740Tyr)
c.3403G>T (p.Asp1135Tyr)
c.2989G>T (p.Asp997Tyr)
c.3595G>T (p.Asp1199Tyr)
c.3949G>T (p.Asp1317Tyr)
dbSNP
2g.25742568C=CA1239490524ASXL2c.3766G= (p.Asp1256=)
c.3769G= (p.Asp1257=)
c.3685G= (p.Asp1229=)
c.2218G= (p.Asp740=)
c.3403G= (p.Asp1135=)
c.2989G= (p.Asp997=)
c.3595G= (p.Asp1199=)
c.3949G= (p.Asp1317=)
2g.25742568C>GCA346076191ASXL2c.3766G>C (p.Asp1256His)
c.3769G>C (p.Asp1257His)
c.3685G>C (p.Asp1229His)
c.2218G>C (p.Asp740His)
c.3403G>C (p.Asp1135His)
c.2989G>C (p.Asp997His)
c.3595G>C (p.Asp1199His)
c.3949G>C (p.Asp1317His)
2g.25742568C>TCA346076193ASXL2c.3766G>A (p.Asp1256Asn)
c.3769G>A (p.Asp1257Asn)
c.3685G>A (p.Asp1229Asn)
c.2218G>A (p.Asp740Asn)
c.3403G>A (p.Asp1135Asn)
c.2989G>A (p.Asp997Asn)
c.3595G>A (p.Asp1199Asn)
c.3949G>A (p.Asp1317Asn)
2g.25742569A>CCA346076197ASXL2c.3765T>G (p.Phe1255Leu)
c.3768T>G (p.Phe1256Leu)
c.3684T>G (p.Phe1228Leu)
c.2217T>G (p.Phe739Leu)
c.3402T>G (p.Phe1134Leu)
c.2988T>G (p.Phe996Leu)
c.3594T>G (p.Phe1198Leu)
c.3948T>G (p.Phe1316Leu)
2g.25742569A>GCA425353738ASXL2c.3765T>C (p.Phe1255=)
c.3768T>C (p.Phe1256=)
c.3684T>C (p.Phe1228=)
c.2217T>C (p.Phe739=)
c.3402T>C (p.Phe1134=)
c.2988T>C (p.Phe996=)
c.3594T>C (p.Phe1198=)
c.3948T>C (p.Phe1316=)
2g.25742569A>TCA346076203ASXL2c.3765T>A (p.Phe1255Leu)
c.3768T>A (p.Phe1256Leu)
c.3684T>A (p.Phe1228Leu)
c.2217T>A (p.Phe739Leu)
c.3402T>A (p.Phe1134Leu)
c.2988T>A (p.Phe996Leu)
c.3594T>A (p.Phe1198Leu)
c.3948T>A (p.Phe1316Leu)
2g.25742570A=CA1239490525ASXL2c.3764T= (p.Phe1255=)
c.3767T= (p.Phe1256=)
c.3683T= (p.Phe1228=)
c.2216T= (p.Phe739=)
c.3401T= (p.Phe1134=)
c.2987T= (p.Phe996=)
c.3593T= (p.Phe1198=)
c.3947T= (p.Phe1316=)
2g.25742570A>CCA346076208ASXL2c.3764T>G (p.Phe1255Cys)
c.3767T>G (p.Phe1256Cys)
c.3683T>G (p.Phe1228Cys)
c.2216T>G (p.Phe739Cys)
c.3401T>G (p.Phe1134Cys)
c.2987T>G (p.Phe996Cys)
c.3593T>G (p.Phe1198Cys)
c.3947T>G (p.Phe1316Cys)
dbSNP gnomAD v3 gnomAD v4
2g.25742570A>GCA346076212ASXL2c.3764T>C (p.Phe1255Ser)
c.3767T>C (p.Phe1256Ser)
c.3683T>C (p.Phe1228Ser)
c.2216T>C (p.Phe739Ser)
c.3401T>C (p.Phe1134Ser)
c.2987T>C (p.Phe996Ser)
c.3593T>C (p.Phe1198Ser)
c.3947T>C (p.Phe1316Ser)
dbSNP gnomAD v3 gnomAD v4
2g.25742570A>TCA346076213ASXL2c.3764T>A (p.Phe1255Tyr)
c.3767T>A (p.Phe1256Tyr)
c.3683T>A (p.Phe1228Tyr)
c.2216T>A (p.Phe739Tyr)
c.3401T>A (p.Phe1134Tyr)
c.2987T>A (p.Phe996Tyr)
c.3593T>A (p.Phe1198Tyr)
c.3947T>A (p.Phe1316Tyr)
2g.25742571A>CCA346076217ASXL2c.3763T>G (p.Phe1255Val)
c.3766T>G (p.Phe1256Val)
c.3682T>G (p.Phe1228Val)
c.2215T>G (p.Phe739Val)
c.3400T>G (p.Phe1134Val)
c.2986T>G (p.Phe996Val)
c.3592T>G (p.Phe1198Val)
c.3946T>G (p.Phe1316Val)
gnomAD v4
2g.25742571A>GCA346076220ASXL2c.3763T>C (p.Phe1255Leu)
c.3766T>C (p.Phe1256Leu)
c.3682T>C (p.Phe1228Leu)
c.2215T>C (p.Phe739Leu)
c.3400T>C (p.Phe1134Leu)
c.2986T>C (p.Phe996Leu)
c.3592T>C (p.Phe1198Leu)
c.3946T>C (p.Phe1316Leu)
2g.25742571A>TCA346076222ASXL2c.3763T>A (p.Phe1255Ile)
c.3766T>A (p.Phe1256Ile)
c.3682T>A (p.Phe1228Ile)
c.2215T>A (p.Phe739Ile)
c.3400T>A (p.Phe1134Ile)
c.2986T>A (p.Phe996Ile)
c.3592T>A (p.Phe1198Ile)
c.3946T>A (p.Phe1316Ile)
2g.25742572T>ACA425353739ASXL2c.3762A>T (p.Thr1254=)
c.3765A>T (p.Thr1255=)
c.3681A>T (p.Thr1227=)
c.2214A>T (p.Thr738=)
c.3399A>T (p.Thr1133=)
c.2985A>T (p.Thr995=)
c.3591A>T (p.Thr1197=)
c.3945A>T (p.Thr1315=)
2g.25742572T>CCA425353740ASXL2c.3762A>G (p.Thr1254=)
c.3765A>G (p.Thr1255=)
c.3681A>G (p.Thr1227=)
c.2214A>G (p.Thr738=)
c.3399A>G (p.Thr1133=)
c.2985A>G (p.Thr995=)
c.3591A>G (p.Thr1197=)
c.3945A>G (p.Thr1315=)
2g.25742572T>GCA425353741ASXL2c.3762A>C (p.Thr1254=)
c.3765A>C (p.Thr1255=)
c.3681A>C (p.Thr1227=)
c.2214A>C (p.Thr738=)
c.3399A>C (p.Thr1133=)
c.2985A>C (p.Thr995=)
c.3591A>C (p.Thr1197=)
c.3945A>C (p.Thr1315=)
2g.25742573G>ACA346076231ASXL2c.3761C>T (p.Thr1254Ile)
c.3764C>T (p.Thr1255Ile)
c.3680C>T (p.Thr1227Ile)
c.2213C>T (p.Thr738Ile)
c.3398C>T (p.Thr1133Ile)
c.2984C>T (p.Thr995Ile)
c.3590C>T (p.Thr1197Ile)
c.3944C>T (p.Thr1315Ile)
gnomAD v4
2g.25742573G>CCA346076228ASXL2c.3761C>G (p.Thr1254Arg)
c.3764C>G (p.Thr1255Arg)
c.3680C>G (p.Thr1227Arg)
c.2213C>G (p.Thr738Arg)
c.3398C>G (p.Thr1133Arg)
c.2984C>G (p.Thr995Arg)
c.3590C>G (p.Thr1197Arg)
c.3944C>G (p.Thr1315Arg)
dbSNP
2g.25742573G=CA1239490526ASXL2c.3761C= (p.Thr1254=)
c.3764C= (p.Thr1255=)
c.3680C= (p.Thr1227=)
c.2213C= (p.Thr738=)
c.3398C= (p.Thr1133=)
c.2984C= (p.Thr995=)
c.3590C= (p.Thr1197=)
c.3944C= (p.Thr1315=)
2g.25742573G>TCA346076225ASXL2c.3761C>A (p.Thr1254Lys)
c.3764C>A (p.Thr1255Lys)
c.3680C>A (p.Thr1227Lys)
c.2213C>A (p.Thr738Lys)
c.3398C>A (p.Thr1133Lys)
c.2984C>A (p.Thr995Lys)
c.3590C>A (p.Thr1197Lys)
c.3944C>A (p.Thr1315Lys)
2g.25742574T>ACA346076233ASXL2c.3760A>T (p.Thr1254Ser)
c.3763A>T (p.Thr1255Ser)
c.3679A>T (p.Thr1227Ser)
c.2212A>T (p.Thr738Ser)
c.3397A>T (p.Thr1133Ser)
c.2983A>T (p.Thr995Ser)
c.3589A>T (p.Thr1197Ser)
c.3943A>T (p.Thr1315Ser)
2g.25742574T>CCA346076236ASXL2c.3760A>G (p.Thr1254Ala)
c.3763A>G (p.Thr1255Ala)
c.3679A>G (p.Thr1227Ala)
c.2212A>G (p.Thr738Ala)
c.3397A>G (p.Thr1133Ala)
c.2983A>G (p.Thr995Ala)
c.3589A>G (p.Thr1197Ala)
c.3943A>G (p.Thr1315Ala)
2g.25742574T>GCA346076239ASXL2c.3760A>C (p.Thr1254Pro)
c.3763A>C (p.Thr1255Pro)
c.3679A>C (p.Thr1227Pro)
c.2212A>C (p.Thr738Pro)
c.3397A>C (p.Thr1133Pro)
c.2983A>C (p.Thr995Pro)
c.3589A>C (p.Thr1197Pro)
c.3943A>C (p.Thr1315Pro)
2g.25742575T>ACA346076241ASXL2c.3759A>T (p.Gln1253His)
c.3762A>T (p.Gln1254His)
c.3678A>T (p.Gln1226His)
c.2211A>T (p.Gln737His)
c.3396A>T (p.Gln1132His)
c.2982A>T (p.Gln994His)
c.3588A>T (p.Gln1196His)
c.3942A>T (p.Gln1314His)
2g.25742575T>CCA425353742ASXL2c.3759A>G (p.Gln1253=)
c.3762A>G (p.Gln1254=)
c.3678A>G (p.Gln1226=)
c.2211A>G (p.Gln737=)
c.3396A>G (p.Gln1132=)
c.2982A>G (p.Gln994=)
c.3588A>G (p.Gln1196=)
c.3942A>G (p.Gln1314=)
dbSNP
2g.25742575T>GCA346076243ASXL2c.3759A>C (p.Gln1253His)
c.3762A>C (p.Gln1254His)
c.3678A>C (p.Gln1226His)
c.2211A>C (p.Gln737His)
c.3396A>C (p.Gln1132His)
c.2982A>C (p.Gln994His)
c.3588A>C (p.Gln1196His)
c.3942A>C (p.Gln1314His)
2g.25742575T=CA1239490527ASXL2c.3759A= (p.Gln1253=)
c.3762A= (p.Gln1254=)
c.3678A= (p.Gln1226=)
c.2211A= (p.Gln737=)
c.3396A= (p.Gln1132=)
c.2982A= (p.Gln994=)
c.3588A= (p.Gln1196=)
c.3942A= (p.Gln1314=)
2g.25742576T>ACA346076246ASXL2c.3758A>T (p.Gln1253Leu)
c.3761A>T (p.Gln1254Leu)
c.3677A>T (p.Gln1226Leu)
c.2210A>T (p.Gln737Leu)
c.3395A>T (p.Gln1132Leu)
c.2981A>T (p.Gln994Leu)
c.3587A>T (p.Gln1196Leu)
c.3941A>T (p.Gln1314Leu)
2g.25742576T>CCA346076252ASXL2c.3758A>G (p.Gln1253Arg)
c.3761A>G (p.Gln1254Arg)
c.3677A>G (p.Gln1226Arg)
c.2210A>G (p.Gln737Arg)
c.3395A>G (p.Gln1132Arg)
c.2981A>G (p.Gln994Arg)
c.3587A>G (p.Gln1196Arg)
c.3941A>G (p.Gln1314Arg)
2g.25742576T>GCA346076255ASXL2c.3758A>C (p.Gln1253Pro)
c.3761A>C (p.Gln1254Pro)
c.3677A>C (p.Gln1226Pro)
c.2210A>C (p.Gln737Pro)
c.3395A>C (p.Gln1132Pro)
c.2981A>C (p.Gln994Pro)
c.3587A>C (p.Gln1196Pro)
c.3941A>C (p.Gln1314Pro)
2g.25742577G>ACA346076257ASXL2c.3757C>T (p.Gln1253Ter)
c.3760C>T (p.Gln1254Ter)
c.3676C>T (p.Gln1226Ter)
c.2209C>T (p.Gln737Ter)
c.3394C>T (p.Gln1132Ter)
c.2980C>T (p.Gln994Ter)
c.3586C>T (p.Gln1196Ter)
c.3940C>T (p.Gln1314Ter)
gnomAD v4
2g.25742577G>CCA346076260ASXL2c.3757C>G (p.Gln1253Glu)
c.3760C>G (p.Gln1254Glu)
c.3676C>G (p.Gln1226Glu)
c.2209C>G (p.Gln737Glu)
c.3394C>G (p.Gln1132Glu)
c.2980C>G (p.Gln994Glu)
c.3586C>G (p.Gln1196Glu)
c.3940C>G (p.Gln1314Glu)
2g.25742577G>TCA346076262ASXL2c.3757C>A (p.Gln1253Lys)
c.3760C>A (p.Gln1254Lys)
c.3676C>A (p.Gln1226Lys)
c.2209C>A (p.Gln737Lys)
c.3394C>A (p.Gln1132Lys)
c.2980C>A (p.Gln994Lys)
c.3586C>A (p.Gln1196Lys)
c.3940C>A (p.Gln1314Lys)
2g.25742578G>ACA425353743ASXL2c.3756C>T (p.Gly1252=)
c.3759C>T (p.Gly1253=)
c.3675C>T (p.Gly1225=)
c.2208C>T (p.Gly736=)
c.3393C>T (p.Gly1131=)
c.2979C>T (p.Gly993=)
c.3585C>T (p.Gly1195=)
c.3939C>T (p.Gly1313=)
dbSNP gnomAD v4
2g.25742578G>CCA425353744ASXL2c.3756C>G (p.Gly1252=)
c.3759C>G (p.Gly1253=)
c.3675C>G (p.Gly1225=)
c.2208C>G (p.Gly736=)
c.3393C>G (p.Gly1131=)
c.2979C>G (p.Gly993=)
c.3585C>G (p.Gly1195=)
c.3939C>G (p.Gly1313=)
dbSNP gnomAD v2
2g.25742578G=CA1239490528ASXL2c.3756C= (p.Gly1252=)
c.3759C= (p.Gly1253=)
c.3675C= (p.Gly1225=)
c.2208C= (p.Gly736=)
c.3393C= (p.Gly1131=)
c.2979C= (p.Gly993=)
c.3585C= (p.Gly1195=)
c.3939C= (p.Gly1313=)
2g.25742578G>TCA425353745ASXL2c.3756C>A (p.Gly1252=)
c.3759C>A (p.Gly1253=)
c.3675C>A (p.Gly1225=)
c.2208C>A (p.Gly736=)
c.3393C>A (p.Gly1131=)
c.2979C>A (p.Gly993=)
c.3585C>A (p.Gly1195=)
c.3939C>A (p.Gly1313=)
2g.25742579C>ACA346076263ASXL2c.3755G>T (p.Gly1252Val)
c.3758G>T (p.Gly1253Val)
c.3674G>T (p.Gly1225Val)
c.2207G>T (p.Gly736Val)
c.3392G>T (p.Gly1131Val)
c.2978G>T (p.Gly993Val)
c.3584G>T (p.Gly1195Val)
c.3938G>T (p.Gly1313Val)
2g.25742579C>GCA346076264ASXL2c.3755G>C (p.Gly1252Ala)
c.3758G>C (p.Gly1253Ala)
c.3674G>C (p.Gly1225Ala)
c.2207G>C (p.Gly736Ala)
c.3392G>C (p.Gly1131Ala)
c.2978G>C (p.Gly993Ala)
c.3584G>C (p.Gly1195Ala)
c.3938G>C (p.Gly1313Ala)
2g.25742579C>TCA346076265ASXL2c.3755G>A (p.Gly1252Asp)
c.3758G>A (p.Gly1253Asp)
c.3674G>A (p.Gly1225Asp)
c.2207G>A (p.Gly736Asp)
c.3392G>A (p.Gly1131Asp)
c.2978G>A (p.Gly993Asp)
c.3584G>A (p.Gly1195Asp)
c.3938G>A (p.Gly1313Asp)
2g.25742580C>ACA346076268ASXL2c.3754G>T (p.Gly1252Cys)
c.3757G>T (p.Gly1253Cys)
c.3673G>T (p.Gly1225Cys)
c.2206G>T (p.Gly736Cys)
c.3391G>T (p.Gly1131Cys)
c.2977G>T (p.Gly993Cys)
c.3583G>T (p.Gly1195Cys)
c.3937G>T (p.Gly1313Cys)
2g.25742580C=CA1239490529ASXL2c.3754G= (p.Gly1252=)
c.3757G= (p.Gly1253=)
c.3673G= (p.Gly1225=)
c.2206G= (p.Gly736=)
c.3391G= (p.Gly1131=)
c.2977G= (p.Gly993=)
c.3583G= (p.Gly1195=)
c.3937G= (p.Gly1313=)
2g.25742580C>GCA346076271ASXL2c.3754G>C (p.Gly1252Arg)
c.3757G>C (p.Gly1253Arg)
c.3673G>C (p.Gly1225Arg)
c.2206G>C (p.Gly736Arg)
c.3391G>C (p.Gly1131Arg)
c.2977G>C (p.Gly993Arg)
c.3583G>C (p.Gly1195Arg)
c.3937G>C (p.Gly1313Arg)
2g.25742580C>TCA1557425ASXL2c.3754G>A (p.Gly1252Ser)
c.3757G>A (p.Gly1253Ser)
c.3673G>A (p.Gly1225Ser)
c.2206G>A (p.Gly736Ser)
c.3391G>A (p.Gly1131Ser)
c.2977G>A (p.Gly993Ser)
c.3583G>A (p.Gly1195Ser)
c.3937G>A (p.Gly1313Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742581T>ACA346076272ASXL2c.3753A>T (p.Arg1251Ser)
c.3756A>T (p.Arg1252Ser)
c.3672A>T (p.Arg1224Ser)
c.2205A>T (p.Arg735Ser)
c.3390A>T (p.Arg1130Ser)
c.2976A>T (p.Arg992Ser)
c.3582A>T (p.Arg1194Ser)
c.3936A>T (p.Arg1312Ser)
2g.25742581T>CCA425353748ASXL2c.3753A>G (p.Arg1251=)
c.3756A>G (p.Arg1252=)
c.3672A>G (p.Arg1224=)
c.2205A>G (p.Arg735=)
c.3390A>G (p.Arg1130=)
c.2976A>G (p.Arg992=)
c.3582A>G (p.Arg1194=)
c.3936A>G (p.Arg1312=)
2g.25742581T>GCA346076274ASXL2c.3753A>C (p.Arg1251Ser)
c.3756A>C (p.Arg1252Ser)
c.3672A>C (p.Arg1224Ser)
c.2205A>C (p.Arg735Ser)
c.3390A>C (p.Arg1130Ser)
c.2976A>C (p.Arg992Ser)
c.3582A>C (p.Arg1194Ser)
c.3936A>C (p.Arg1312Ser)
2g.25742582C>ACA346076277ASXL2c.3752G>T (p.Arg1251Ile)
c.3755G>T (p.Arg1252Ile)
c.3671G>T (p.Arg1224Ile)
c.2204G>T (p.Arg735Ile)
c.3389G>T (p.Arg1130Ile)
c.2975G>T (p.Arg992Ile)
c.3581G>T (p.Arg1194Ile)
c.3935G>T (p.Arg1312Ile)
2g.25742582C=CA1239490530ASXL2c.3752G= (p.Arg1251=)
c.3755G= (p.Arg1252=)
c.3671G= (p.Arg1224=)
c.2204G= (p.Arg735=)
c.3389G= (p.Arg1130=)
c.2975G= (p.Arg992=)
c.3581G= (p.Arg1194=)
c.3935G= (p.Arg1312=)
2g.25742582C>GCA346076279ASXL2c.3752G>C (p.Arg1251Thr)
c.3755G>C (p.Arg1252Thr)
c.3671G>C (p.Arg1224Thr)
c.2204G>C (p.Arg735Thr)
c.3389G>C (p.Arg1130Thr)
c.2975G>C (p.Arg992Thr)
c.3581G>C (p.Arg1194Thr)
c.3935G>C (p.Arg1312Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742582C>TCA346076283ASXL2c.3752G>A (p.Arg1251Lys)
c.3755G>A (p.Arg1252Lys)
c.3671G>A (p.Arg1224Lys)
c.2204G>A (p.Arg735Lys)
c.3389G>A (p.Arg1130Lys)
c.2975G>A (p.Arg992Lys)
c.3581G>A (p.Arg1194Lys)
c.3935G>A (p.Arg1312Lys)
2g.25742583T>ACA346076285ASXL2c.3751A>T (p.Arg1251Ter)
c.3754A>T (p.Arg1252Ter)
c.3670A>T (p.Arg1224Ter)
c.2203A>T (p.Arg735Ter)
c.3388A>T (p.Arg1130Ter)
c.2974A>T (p.Arg992Ter)
c.3580A>T (p.Arg1194Ter)
c.3934A>T (p.Arg1312Ter)
2g.25742583T>CCA346076288ASXL2c.3751A>G (p.Arg1251Gly)
c.3754A>G (p.Arg1252Gly)
c.3670A>G (p.Arg1224Gly)
c.2203A>G (p.Arg735Gly)
c.3388A>G (p.Arg1130Gly)
c.2974A>G (p.Arg992Gly)
c.3580A>G (p.Arg1194Gly)
c.3934A>G (p.Arg1312Gly)
gnomAD v4
2g.25742583T>GCA425353750ASXL2c.3751A>C (p.Arg1251=)
c.3754A>C (p.Arg1252=)
c.3670A>C (p.Arg1224=)
c.2203A>C (p.Arg735=)
c.3388A>C (p.Arg1130=)
c.2974A>C (p.Arg992=)
c.3580A>C (p.Arg1194=)
c.3934A>C (p.Arg1312=)
2g.25742584A=CA1239490531ASXL2c.3750T= (p.Thr1250=)
c.3753T= (p.Thr1251=)
c.3669T= (p.Thr1223=)
c.2202T= (p.Thr734=)
c.3387T= (p.Thr1129=)
c.2973T= (p.Thr991=)
c.3579T= (p.Thr1193=)
c.3933T= (p.Thr1311=)
2g.25742584A>CCA425353751ASXL2c.3750T>G (p.Thr1250=)
c.3753T>G (p.Thr1251=)
c.3669T>G (p.Thr1223=)
c.2202T>G (p.Thr734=)
c.3387T>G (p.Thr1129=)
c.2973T>G (p.Thr991=)
c.3579T>G (p.Thr1193=)
c.3933T>G (p.Thr1311=)
2g.25742584A>GCA425353752ASXL2c.3750T>C (p.Thr1250=)
c.3753T>C (p.Thr1251=)
c.3669T>C (p.Thr1223=)
c.2202T>C (p.Thr734=)
c.3387T>C (p.Thr1129=)
c.2973T>C (p.Thr991=)
c.3579T>C (p.Thr1193=)
c.3933T>C (p.Thr1311=)
dbSNP
2g.25742584A>TCA425353753ASXL2c.3750T>A (p.Thr1250=)
c.3753T>A (p.Thr1251=)
c.3669T>A (p.Thr1223=)
c.2202T>A (p.Thr734=)
c.3387T>A (p.Thr1129=)
c.2973T>A (p.Thr991=)
c.3579T>A (p.Thr1193=)
c.3933T>A (p.Thr1311=)
2g.25742585G>ACA346076292ASXL2c.3749C>T (p.Thr1250Ile)
c.3752C>T (p.Thr1251Ile)
c.3668C>T (p.Thr1223Ile)
c.2201C>T (p.Thr734Ile)
c.3386C>T (p.Thr1129Ile)
c.2972C>T (p.Thr991Ile)
c.3578C>T (p.Thr1193Ile)
c.3932C>T (p.Thr1311Ile)
gnomAD v4
2g.25742585G>CCA346076294ASXL2c.3749C>G (p.Thr1250Ser)
c.3752C>G (p.Thr1251Ser)
c.3668C>G (p.Thr1223Ser)
c.2201C>G (p.Thr734Ser)
c.3386C>G (p.Thr1129Ser)
c.2972C>G (p.Thr991Ser)
c.3578C>G (p.Thr1193Ser)
c.3932C>G (p.Thr1311Ser)
2g.25742585G>TCA346076295ASXL2c.3749C>A (p.Thr1250Asn)
c.3752C>A (p.Thr1251Asn)
c.3668C>A (p.Thr1223Asn)
c.2201C>A (p.Thr734Asn)
c.3386C>A (p.Thr1129Asn)
c.2972C>A (p.Thr991Asn)
c.3578C>A (p.Thr1193Asn)
c.3932C>A (p.Thr1311Asn)
2g.25742586T>ACA346076296ASXL2c.3748A>T (p.Thr1250Ser)
c.3751A>T (p.Thr1251Ser)
c.3667A>T (p.Thr1223Ser)
c.2200A>T (p.Thr734Ser)
c.3385A>T (p.Thr1129Ser)
c.2971A>T (p.Thr991Ser)
c.3577A>T (p.Thr1193Ser)
c.3931A>T (p.Thr1311Ser)
2g.25742586T>CCA346076298ASXL2c.3748A>G (p.Thr1250Ala)
c.3751A>G (p.Thr1251Ala)
c.3667A>G (p.Thr1223Ala)
c.2200A>G (p.Thr734Ala)
c.3385A>G (p.Thr1129Ala)
c.2971A>G (p.Thr991Ala)
c.3577A>G (p.Thr1193Ala)
c.3931A>G (p.Thr1311Ala)
2g.25742586T>GCA346076299ASXL2c.3748A>C (p.Thr1250Pro)
c.3751A>C (p.Thr1251Pro)
c.3667A>C (p.Thr1223Pro)
c.2200A>C (p.Thr734Pro)
c.3385A>C (p.Thr1129Pro)
c.2971A>C (p.Thr991Pro)
c.3577A>C (p.Thr1193Pro)
c.3931A>C (p.Thr1311Pro)
2g.25742587G>ACA425353757ASXL2c.3747C>T (p.Phe1249=)
c.3750C>T (p.Phe1250=)
c.3666C>T (p.Phe1222=)
c.2199C>T (p.Phe733=)
c.3384C>T (p.Phe1128=)
c.2970C>T (p.Phe990=)
c.3576C>T (p.Phe1192=)
c.3930C>T (p.Phe1310=)
2g.25742587G>CCA346076304ASXL2c.3747C>G (p.Phe1249Leu)
c.3750C>G (p.Phe1250Leu)
c.3666C>G (p.Phe1222Leu)
c.2199C>G (p.Phe733Leu)
c.3384C>G (p.Phe1128Leu)
c.2970C>G (p.Phe990Leu)
c.3576C>G (p.Phe1192Leu)
c.3930C>G (p.Phe1310Leu)
dbSNP
2g.25742587G=CA1239490532ASXL2c.3747C= (p.Phe1249=)
c.3750C= (p.Phe1250=)
c.3666C= (p.Phe1222=)
c.2199C= (p.Phe733=)
c.3384C= (p.Phe1128=)
c.2970C= (p.Phe990=)
c.3576C= (p.Phe1192=)
c.3930C= (p.Phe1310=)
2g.25742587G>TCA346076303ASXL2c.3747C>A (p.Phe1249Leu)
c.3750C>A (p.Phe1250Leu)
c.3666C>A (p.Phe1222Leu)
c.2199C>A (p.Phe733Leu)
c.3384C>A (p.Phe1128Leu)
c.2970C>A (p.Phe990Leu)
c.3576C>A (p.Phe1192Leu)
c.3930C>A (p.Phe1310Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742588A>CCA346076308ASXL2c.3746T>G (p.Phe1249Cys)
c.3749T>G (p.Phe1250Cys)
c.3665T>G (p.Phe1222Cys)
c.2198T>G (p.Phe733Cys)
c.3383T>G (p.Phe1128Cys)
c.2969T>G (p.Phe990Cys)
c.3575T>G (p.Phe1192Cys)
c.3929T>G (p.Phe1310Cys)
2g.25742588A>GCA346076310ASXL2c.3746T>C (p.Phe1249Ser)
c.3749T>C (p.Phe1250Ser)
c.3665T>C (p.Phe1222Ser)
c.2198T>C (p.Phe733Ser)
c.3383T>C (p.Phe1128Ser)
c.2969T>C (p.Phe990Ser)
c.3575T>C (p.Phe1192Ser)
c.3929T>C (p.Phe1310Ser)
2g.25742588A>TCA346076312ASXL2c.3746T>A (p.Phe1249Tyr)
c.3749T>A (p.Phe1250Tyr)
c.3665T>A (p.Phe1222Tyr)
c.2198T>A (p.Phe733Tyr)
c.3383T>A (p.Phe1128Tyr)
c.2969T>A (p.Phe990Tyr)
c.3575T>A (p.Phe1192Tyr)
c.3929T>A (p.Phe1310Tyr)

Number of alleles fetched