Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25742465_25742488dup | CA2658189303 | ASXL2 | c.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 |
2 | g.25742488A= | CA1239490496 | ASXL2 | c.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=) | |
2 | g.25742488A>C | CA425353690 | ASXL2 | c.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=) | |
2 | g.25742488A>G | CA1557412 | ASXL2 | c.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 |
2 | g.25742488A>T | CA425353691 | ASXL2 | c.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=) | |
2 | g.25742489C>A | CA1557414 | ASXL2 | c.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 |
2 | g.25742489C= | CA1239490497 | ASXL2 | c.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=) | |
2 | g.25742489C>G | CA346075652 | ASXL2 | c.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) | |
2 | g.25742489C>T | CA1557413 | ASXL2 | c.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 |
2 | g.25742490G>A | CA1557415 | ASXL2 | c.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 |
2 | g.25742490G>C | CA346075660 | ASXL2 | c.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 |
2 | g.25742490G= | CA1239490498 | ASXL2 | c.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=) | |
2 | g.25742490G>T | CA346075663 | ASXL2 | c.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) | |
2 | g.25742491G>A | CA425353692 | ASXL2 | c.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=) | |
2 | g.25742491G>C | CA346075666 | ASXL2 | c.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) | |
2 | g.25742491G>T | CA425353693 | ASXL2 | c.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=) | |
2 | g.25742492A>C | CA346075668 | ASXL2 | c.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) | |
2 | g.25742492A>G | CA346075670 | ASXL2 | c.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) | |
2 | g.25742492A>T | CA346075673 | ASXL2 | c.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) | |
2 | g.25742493T>A | CA1557416 | ASXL2 | c.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 |
2 | g.25742493T>C | CA346075681 | ASXL2 | c.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 |
2 | g.25742493T>G | CA346075677 | ASXL2 | c.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) | |
2 | g.25742493T= | CA1239490499 | ASXL2 | c.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=) | |
2 | g.25742494T>A | CA425353694 | ASXL2 | c.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=) | |
2 | g.25742494T>C | CA425353695 | ASXL2 | c.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=) | |
2 | g.25742494T>G | CA425353696 | ASXL2 | c.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 |
2 | g.25742494T= | CA1239490500 | ASXL2 | c.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=) | |
2 | g.25742494_25742495insAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTG | CA531761031 | ASXL2 | c.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 |
2 | g.25742495G>A | CA346075688 | ASXL2 | c.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) | |
2 | g.25742495G>C | CA346075690 | ASXL2 | c.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) | |
2 | g.25742495G>T | CA346075691 | ASXL2 | c.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) | |
2 | g.25742496C>A | CA346075696 | ASXL2 | c.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) | |
2 | g.25742496C>G | CA346075698 | ASXL2 | c.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) | |
2 | g.25742496C>T | CA346075702 | ASXL2 | c.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) | |
2 | g.25742497C>A | CA346075704 | ASXL2 | c.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) | |
2 | g.25742497C= | CA1239490501 | ASXL2 | c.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=) | |
2 | g.25742497C>G | CA346075706 | ASXL2 | c.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) | |
2 | g.25742497C>T | CA425353697 | ASXL2 | c.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 |
2 | g.25742498T>A | CA346075709 | ASXL2 | c.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 |
2 | g.25742498T>C | CA346075711 | ASXL2 | c.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) | |
2 | g.25742498T>G | CA346075714 | ASXL2 | c.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 |
2 | g.25742498T= | CA1239490502 | ASXL2 | c.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=) | |
2 | g.25742499T>A | CA346075725 | ASXL2 | c.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) | |
2 | g.25742499T>C | CA346075721 | ASXL2 | c.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 |
2 | g.25742499T>G | CA346075718 | ASXL2 | c.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) | |
2 | g.25742499T= | CA1239490503 | ASXL2 | c.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=) | |
2 | g.25742500A>C | CA425353699 | ASXL2 | c.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 |
2 | g.25742500A>G | CA425353700 | ASXL2 | c.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=) | |
2 | g.25742500A>T | CA425353698 | ASXL2 | c.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=) | |
2 | g.25742501C>A | CA346075728 | ASXL2 | c.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) | |
2 | g.25742501C>G | CA346075730 | ASXL2 | c.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) | |
2 | g.25742501C>T | CA346075733 | ASXL2 | c.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) | |
2 | g.25742502C>A | CA346075736 | ASXL2 | c.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) | |
2 | g.25742502C= | CA1239490504 | ASXL2 | c.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=) | |
2 | g.25742502C>G | CA346075737 | ASXL2 | c.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) | |
2 | g.25742502C>T | CA346075738 | ASXL2 | c.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 |
2 | g.25742503T>A | CA346075739 | ASXL2 | c.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) | |
2 | g.25742503T>C | CA425353701 | ASXL2 | c.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=) | |
2 | g.25742503T>G | CA346075740 | ASXL2 | c.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) | |
2 | g.25742504C>A | CA346075742 | ASXL2 | c.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) | |
2 | g.25742504C= | CA1239490505 | ASXL2 | c.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=) | |
2 | g.25742504C>G | CA346075754 | ASXL2 | c.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 |
2 | g.25742504C>T | CA346075758 | ASXL2 | c.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) | |
2 | g.25742505T>A | CA346075761 | ASXL2 | c.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) | |
2 | g.25742505T>C | CA346075763 | ASXL2 | c.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) | |
2 | g.25742505T>G | CA425353702 | ASXL2 | c.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=) | |
2 | g.25742506C>A | CA425353703 | ASXL2 | c.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=) | |
2 | g.25742506C>G | CA425353705 | ASXL2 | c.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=) | |
2 | g.25742506C>T | CA425353704 | ASXL2 | c.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=) | |
2 | g.25742507A= | CA1239490506 | ASXL2 | c.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=) | |
2 | g.25742507A>C | CA346075771 | ASXL2 | c.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) | |
2 | g.25742507A>G | CA1557417 | ASXL2 | c.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 |
2 | g.25742507A>T | CA346075769 | ASXL2 | c.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) | |
2 | g.25742508C>A | CA346075774 | ASXL2 | c.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) | |
2 | g.25742508C>G | CA346075777 | ASXL2 | c.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 |
2 | g.25742508C>T | CA346075780 | ASXL2 | c.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) | |
2 | g.25742509T>A | CA425353706 | ASXL2 | c.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=) | |
2 | g.25742509T>C | CA43734310 | ASXL2 | c.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 |
2 | g.25742509T>G | CA425353707 | ASXL2 | c.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=) | |
2 | g.25742509T= | CA1239490507 | ASXL2 | c.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=) | |
2 | g.25742510G>A | CA346075783 | ASXL2 | c.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 |
2 | g.25742510G>C | CA346075786 | ASXL2 | c.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) | |
2 | g.25742510G>T | CA346075789 | ASXL2 | c.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) | |
2 | g.25742511C>A | CA346075792 | ASXL2 | c.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) | |
2 | g.25742511C>G | CA346075795 | ASXL2 | c.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) | |
2 | g.25742511C>T | CA346075798 | ASXL2 | c.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) | |
2 | g.25742512A= | CA1239490508 | ASXL2 | c.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=) | |
2 | g.25742512A>C | CA346075801 | ASXL2 | c.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) | |
2 | g.25742512A>G | CA43734314 | ASXL2 | c.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 |
2 | g.25742512A>T | CA346075805 | ASXL2 | c.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) | |
2 | g.25742513T>A | CA346075812 | ASXL2 | c.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) | |
2 | g.25742513T>C | CA346075813 | ASXL2 | c.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 |
2 | g.25742513T>G | CA346075809 | ASXL2 | c.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 |
2 | g.25742513T= | CA1239490509 | ASXL2 | c.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=) | |
2 | g.25742514G>A | CA1557418 | ASXL2 | c.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 |
2 | g.25742514G>C | CA346075817 | ASXL2 | c.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) | |
2 | g.25742514G= | CA1239490510 | ASXL2 | c.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=) | |
2 | g.25742514G>T | CA346075823 | ASXL2 | c.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) | |
2 | g.25742515A>C | CA425353708 | ASXL2 | c.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=) | |
2 | g.25742515A>G | CA425353709 | ASXL2 | c.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=) | |
2 | g.25742515A>T | CA425353710 | ASXL2 | c.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=) | |
2 | g.25742516G>A | CA346075827 | ASXL2 | c.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) | |
2 | g.25742516G>C | CA346075831 | ASXL2 | c.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) | |
2 | g.25742516G>T | CA346075830 | ASXL2 | c.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) | |
2 | g.25742517C>A | CA346075832 | ASXL2 | c.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 |
2 | g.25742517C= | CA1239490511 | ASXL2 | c.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=) | |
2 | g.25742517C>G | CA43734318 | ASXL2 | c.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 |
2 | g.25742517C>T | CA346075836 | ASXL2 | c.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) | |
2 | g.25742518C>A | CA346075842 | ASXL2 | c.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 |
2 | g.25742518C>G | CA346075845 | ASXL2 | c.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) | |
2 | g.25742518C>T | CA346075847 | ASXL2 | c.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 |
2 | g.25742519A>C | CA346075849 | ASXL2 | c.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) | |
2 | g.25742519A>G | CA346075852 | ASXL2 | c.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) | |
2 | g.25742519A>T | CA346075855 | ASXL2 | c.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) | |
2 | g.25742520T>A | CA346075858 | ASXL2 | c.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) | |
2 | g.25742520T>C | CA346075861 | ASXL2 | c.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) | |
2 | g.25742520T>G | CA346075865 | ASXL2 | c.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) | |
2 | g.25742521C>A | CA1557419 | ASXL2 | c.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 |
2 | g.25742521C= | CA1239490512 | ASXL2 | c.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=) | |
2 | g.25742521C>G | CA346075873 | ASXL2 | c.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) | |
2 | g.25742521C>T | CA1557420 | ASXL2 | c.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 |
2 | g.25742522T>A | CA346075884 | ASXL2 | c.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 |
2 | g.25742522T>C | CA346075879 | ASXL2 | c.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) | |
2 | g.25742522T>G | CA346075882 | ASXL2 | c.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) | |
2 | g.25742523G>A | CA346075888 | ASXL2 | c.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) | |
2 | g.25742523G>C | CA346075891 | ASXL2 | c.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) | |
2 | g.25742523G>T | CA346075894 | ASXL2 | c.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) | |
2 | g.25742524C>A | CA346075897 | ASXL2 | c.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) | |
2 | g.25742524C>G | CA346075900 | ASXL2 | c.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) | |
2 | g.25742524C>T | CA425353711 | ASXL2 | c.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=) | |
2 | g.25742525T>A | CA346075905 | ASXL2 | c.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) | |
2 | g.25742525T>C | CA346075911 | ASXL2 | c.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) | |
2 | g.25742525T>G | CA346075914 | ASXL2 | c.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) | |
2 | g.25742526T>A | CA346075917 | ASXL2 | c.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) | |
2 | g.25742526T>C | CA346075919 | ASXL2 | c.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) | |
2 | g.25742526T>G | CA346075922 | ASXL2 | c.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) | |
2 | g.25742527C>A | CA346075926 | ASXL2 | c.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) | |
2 | g.25742527C>G | CA346075929 | ASXL2 | c.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) | |
2 | g.25742527C>T | CA425353712 | ASXL2 | c.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=) | |
2 | g.25742528T>A | CA346075933 | ASXL2 | c.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) | |
2 | g.25742528T>C | CA346075936 | ASXL2 | c.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) | |
2 | g.25742528T>G | CA346075940 | ASXL2 | c.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) | |
2 | g.25742529G>A | CA346075943 | ASXL2 | c.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 |
2 | g.25742529G>C | CA346075946 | ASXL2 | c.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) | |
2 | g.25742529G>T | CA346075947 | ASXL2 | c.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) | |
2 | g.25742530T>A | CA425353713 | ASXL2 | c.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=) | |
2 | g.25742530T>C | CA43734322 | ASXL2 | c.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 |
2 | g.25742530T>G | CA425353714 | ASXL2 | c.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=) | |
2 | g.25742530T= | CA1239490513 | ASXL2 | c.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=) | |
2 | g.25742531G>A | CA346075955 | ASXL2 | c.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) | |
2 | g.25742531G>C | CA346075958 | ASXL2 | c.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) | |
2 | g.25742531G>T | CA346075956 | ASXL2 | c.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) | |
2 | g.25742532C>A | CA346075962 | ASXL2 | c.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) | |
2 | g.25742532C>G | CA346075964 | ASXL2 | c.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) | |
2 | g.25742532C>T | CA346075966 | ASXL2 | c.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) | |
2 | g.25742533T>A | CA425353716 | ASXL2 | c.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=) | |
2 | g.25742533T>C | CA425353715 | ASXL2 | c.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=) | |
2 | g.25742533T>G | CA1557421 | ASXL2 | c.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 |
2 | g.25742533T= | CA1239490514 | ASXL2 | c.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=) | |
2 | g.25742534G>A | CA346075972 | ASXL2 | c.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 |
2 | g.25742534G>C | CA346075978 | ASXL2 | c.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) | |
2 | g.25742534G>T | CA346075975 | ASXL2 | c.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) | |
2 | g.25742535C>A | CA346075980 | ASXL2 | c.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 |
2 | g.25742535C>G | CA346075983 | ASXL2 | c.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) | |
2 | g.25742535C>T | CA346075986 | ASXL2 | c.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) | |
2 | g.25742536C>A | CA346075988 | ASXL2 | c.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) | |
2 | g.25742536C= | CA1239490515 | ASXL2 | c.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=) | |
2 | g.25742536C>G | CA346075992 | ASXL2 | c.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 |
2 | g.25742536C>T | CA425353717 | ASXL2 | c.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=) | |
2 | g.25742537T>A | CA346075995 | ASXL2 | c.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) | |
2 | g.25742537T>C | CA346075997 | ASXL2 | c.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 |
2 | g.25742537T>G | CA346075999 | ASXL2 | c.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) | |
2 | g.25742538G>A | CA346076004 | ASXL2 | c.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 |
2 | g.25742538G>C | CA346076006 | ASXL2 | c.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) | |
2 | g.25742538G>T | CA346076008 | ASXL2 | c.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) | |
2 | g.25742539A>C | CA346076015 | ASXL2 | c.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) | |
2 | g.25742539A>G | CA425353718 | ASXL2 | c.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=) | |
2 | g.25742539A>T | CA425353719 | ASXL2 | c.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=) | |
2 | g.25742540A>C | CA346076026 | ASXL2 | c.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) | |
2 | g.25742540A>G | CA346076019 | ASXL2 | c.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) | |
2 | g.25742540A>T | CA346076022 | ASXL2 | c.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) | |
2 | g.25742541T>A | CA346076031 | ASXL2 | c.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 |
2 | g.25742541T>C | CA346076033 | ASXL2 | c.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 |
2 | g.25742541T>G | CA346076035 | ASXL2 | c.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) | |
2 | g.25742541T= | CA1239490516 | ASXL2 | c.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=) | |
2 | g.25742542T>A | CA346076038 | ASXL2 | c.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) | |
2 | g.25742542T>C | CA425353720 | ASXL2 | c.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 |
2 | g.25742542T>G | CA346076041 | ASXL2 | c.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) | |
2 | g.25742543A>C | CA346076044 | ASXL2 | c.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) | |
2 | g.25742543A>G | CA346076053 | ASXL2 | c.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) | |
2 | g.25742543A>T | CA346076046 | ASXL2 | c.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) | |
2 | g.25742544A>C | CA346076055 | ASXL2 | c.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) | |
2 | g.25742544A>G | CA425353721 | ASXL2 | c.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=) | |
2 | g.25742544A>T | CA346076058 | ASXL2 | c.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) | |
2 | g.25742545A>C | CA346076061 | ASXL2 | c.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) | |
2 | g.25742545A>G | CA425353722 | ASXL2 | c.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=) | |
2 | g.25742545A>T | CA346076064 | ASXL2 | c.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) | |
2 | g.25742546T>A | CA346076073 | ASXL2 | c.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) | |
2 | g.25742546T>C | CA346076067 | ASXL2 | c.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) | |
2 | g.25742546T>G | CA346076070 | ASXL2 | c.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) | |
2 | g.25742547C>A | CA346076075 | ASXL2 | c.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) | |
2 | g.25742547C>G | CA346076078 | ASXL2 | c.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) | |
2 | g.25742547C>T | CA346076079 | ASXL2 | c.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) | |
2 | g.25742548T>A | CA346076080 | ASXL2 | c.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) | |
2 | g.25742548T>C | CA425353723 | ASXL2 | c.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 |
2 | g.25742548T>G | CA346076081 | ASXL2 | c.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) | |
2 | g.25742549C>A | CA346076082 | ASXL2 | c.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) | |
2 | g.25742549C>G | CA346076084 | ASXL2 | c.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) | |
2 | g.25742549C>T | CA346076086 | ASXL2 | c.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) | |
2 | g.25742550T>A | CA346076088 | ASXL2 | c.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) | |
2 | g.25742550T>C | CA346076089 | ASXL2 | c.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 |
2 | g.25742550T>G | CA425353724 | ASXL2 | c.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=) | |
2 | g.25742550T= | CA1239490517 | ASXL2 | c.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=) | |
2 | g.25742551G>A | CA425353725 | ASXL2 | c.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 |
2 | g.25742551G>C | CA425353726 | ASXL2 | c.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=) | |
2 | g.25742551G= | CA1239490518 | ASXL2 | c.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=) | |
2 | g.25742551G>T | CA425353727 | ASXL2 | c.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 |
2 | g.25742552G>A | CA346076090 | ASXL2 | c.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) | |
2 | g.25742552G>C | CA346076091 | ASXL2 | c.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) | |
2 | g.25742552G>T | CA346076093 | ASXL2 | c.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) | |
2 | g.25742553C>A | CA346076095 | ASXL2 | c.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 |
2 | g.25742553C= | CA1239490519 | ASXL2 | c.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=) | |
2 | g.25742553C>G | CA346076098 | ASXL2 | c.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) | |
2 | g.25742553C>T | CA346076096 | ASXL2 | c.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) | |
2 | g.25742553_25742563del | CA2581934947 | ASXL2 | c.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) | |
2 | g.25742554T>A | CA425353728 | ASXL2 | c.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=) | |
2 | g.25742554T>C | CA425353730 | ASXL2 | c.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=) | |
2 | g.25742554T>G | CA425353729 | ASXL2 | c.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=) | |
2 | g.25742555A>C | CA346076101 | ASXL2 | c.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) | |
2 | g.25742555A>G | CA346076103 | ASXL2 | c.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) | |
2 | g.25742555A>T | CA346076107 | ASXL2 | c.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) | |
2 | g.25742556G>A | CA425353731 | ASXL2 | c.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=) | |
2 | g.25742556G>C | CA346076110 | ASXL2 | c.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 |
2 | g.25742556G>T | CA346076111 | ASXL2 | c.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) | |
2 | g.25742557G>A | CA425353732 | ASXL2 | c.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 |
2 | g.25742557G>C | CA425353733 | ASXL2 | c.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=) | |
2 | g.25742557G>T | CA425353734 | ASXL2 | c.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=) | |
2 | g.25742558G>A | CA346076114 | ASXL2 | c.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) | |
2 | g.25742558G>C | CA346076117 | ASXL2 | c.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 |
2 | g.25742558G>T | CA346076120 | ASXL2 | c.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) | |
2 | g.25742559T>A | CA346076123 | ASXL2 | c.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) | |
2 | g.25742559T>C | CA346076126 | ASXL2 | c.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) | |
2 | g.25742559T>G | CA346076127 | ASXL2 | c.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 |
2 | g.25742559T= | CA1239490520 | ASXL2 | c.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=) | |
2 | g.25742560C>A | CA346076129 | ASXL2 | c.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) | |
2 | g.25742560C>G | CA346076132 | ASXL2 | c.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) | |
2 | g.25742560C>T | CA425353735 | ASXL2 | c.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=) | |
2 | g.25742561T>A | CA346076135 | ASXL2 | c.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) | |
2 | g.25742561T>C | CA346076140 | ASXL2 | c.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) | |
2 | g.25742561T>G | CA346076137 | ASXL2 | c.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) | |
2 | g.25742562T>A | CA346076144 | ASXL2 | c.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) | |
2 | g.25742562T>C | CA346076146 | ASXL2 | c.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 |
2 | g.25742562T>G | CA346076148 | ASXL2 | c.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) | |
2 | g.25742562T= | CA1239490521 | ASXL2 | c.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=) | |
2 | g.25742563T>A | CA346076151 | ASXL2 | c.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) | |
2 | g.25742563T>C | CA425353736 | ASXL2 | c.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=) | |
2 | g.25742563T>G | CA346076153 | ASXL2 | c.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 |
2 | g.25742564T>A | CA346076157 | ASXL2 | c.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) | |
2 | g.25742564T>C | CA346076161 | ASXL2 | c.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 |
2 | g.25742564T>G | CA346076164 | ASXL2 | c.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) | |
2 | g.25742565C>A | CA346076168 | ASXL2 | c.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) | |
2 | g.25742565C>G | CA346076169 | ASXL2 | c.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) | |
2 | g.25742565C>T | CA346076172 | ASXL2 | c.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 |
2 | g.25742566A= | CA1239490522 | ASXL2 | c.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=) | |
2 | g.25742566A>C | CA346076175 | ASXL2 | c.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) | |
2 | g.25742566A>G | CA425353737 | ASXL2 | c.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 |
2 | g.25742566A>T | CA1557422 | ASXL2 | c.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 |
2 | g.25742567T>A | CA1557424 | ASXL2 | c.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 |
2 | g.25742567T>C | CA1557423 | ASXL2 | c.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 |
2 | g.25742567T>G | CA346076182 | ASXL2 | c.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) | |
2 | g.25742567T= | CA1239490523 | ASXL2 | c.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=) | |
2 | g.25742568C>A | CA346076188 | ASXL2 | c.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 |
2 | g.25742568C= | CA1239490524 | ASXL2 | c.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=) | |
2 | g.25742568C>G | CA346076191 | ASXL2 | c.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) | |
2 | g.25742568C>T | CA346076193 | ASXL2 | c.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) | |
2 | g.25742569A>C | CA346076197 | ASXL2 | c.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) | |
2 | g.25742569A>G | CA425353738 | ASXL2 | c.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=) | |
2 | g.25742569A>T | CA346076203 | ASXL2 | c.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) | |
2 | g.25742570A= | CA1239490525 | ASXL2 | c.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=) | |
2 | g.25742570A>C | CA346076208 | ASXL2 | c.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 |
2 | g.25742570A>G | CA346076212 | ASXL2 | c.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 |
2 | g.25742570A>T | CA346076213 | ASXL2 | c.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) | |
2 | g.25742571A>C | CA346076217 | ASXL2 | c.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 |
2 | g.25742571A>G | CA346076220 | ASXL2 | c.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) | |
2 | g.25742571A>T | CA346076222 | ASXL2 | c.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) | |
2 | g.25742572T>A | CA425353739 | ASXL2 | c.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=) | |
2 | g.25742572T>C | CA425353740 | ASXL2 | c.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=) | |
2 | g.25742572T>G | CA425353741 | ASXL2 | c.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=) | |
2 | g.25742573G>A | CA346076231 | ASXL2 | c.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 |
2 | g.25742573G>C | CA346076228 | ASXL2 | c.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 |
2 | g.25742573G= | CA1239490526 | ASXL2 | c.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=) | |
2 | g.25742573G>T | CA346076225 | ASXL2 | c.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) | |
2 | g.25742574T>A | CA346076233 | ASXL2 | c.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) | |
2 | g.25742574T>C | CA346076236 | ASXL2 | c.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) | |
2 | g.25742574T>G | CA346076239 | ASXL2 | c.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) | |
2 | g.25742575T>A | CA346076241 | ASXL2 | c.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) | |
2 | g.25742575T>C | CA425353742 | ASXL2 | c.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 |
2 | g.25742575T>G | CA346076243 | ASXL2 | c.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) | |
2 | g.25742575T= | CA1239490527 | ASXL2 | c.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=) | |
2 | g.25742576T>A | CA346076246 | ASXL2 | c.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) | |
2 | g.25742576T>C | CA346076252 | ASXL2 | c.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) | |
2 | g.25742576T>G | CA346076255 | ASXL2 | c.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) | |
2 | g.25742577G>A | CA346076257 | ASXL2 | c.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 |
2 | g.25742577G>C | CA346076260 | ASXL2 | c.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) | |
2 | g.25742577G>T | CA346076262 | ASXL2 | c.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) | |
2 | g.25742578G>A | CA425353743 | ASXL2 | c.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 |
2 | g.25742578G>C | CA425353744 | ASXL2 | c.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 |
2 | g.25742578G= | CA1239490528 | ASXL2 | c.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=) | |
2 | g.25742578G>T | CA425353745 | ASXL2 | c.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=) | |
2 | g.25742579C>A | CA346076263 | ASXL2 | c.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) | |
2 | g.25742579C>G | CA346076264 | ASXL2 | c.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) | |
2 | g.25742579C>T | CA346076265 | ASXL2 | c.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) | |
2 | g.25742580C>A | CA346076268 | ASXL2 | c.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) | |
2 | g.25742580C= | CA1239490529 | ASXL2 | c.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=) | |
2 | g.25742580C>G | CA346076271 | ASXL2 | c.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) | |
2 | g.25742580C>T | CA1557425 | ASXL2 | c.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 |
2 | g.25742581T>A | CA346076272 | ASXL2 | c.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) | |
2 | g.25742581T>C | CA425353748 | ASXL2 | c.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=) | |
2 | g.25742581T>G | CA346076274 | ASXL2 | c.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) | |
2 | g.25742582C>A | CA346076277 | ASXL2 | c.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) | |
2 | g.25742582C= | CA1239490530 | ASXL2 | c.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=) | |
2 | g.25742582C>G | CA346076279 | ASXL2 | c.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 |
2 | g.25742582C>T | CA346076283 | ASXL2 | c.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) | |
2 | g.25742583T>A | CA346076285 | ASXL2 | c.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) | |
2 | g.25742583T>C | CA346076288 | ASXL2 | c.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 |
2 | g.25742583T>G | CA425353750 | ASXL2 | c.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=) | |
2 | g.25742584A= | CA1239490531 | ASXL2 | c.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=) | |
2 | g.25742584A>C | CA425353751 | ASXL2 | c.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=) | |
2 | g.25742584A>G | CA425353752 | ASXL2 | c.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 |
2 | g.25742584A>T | CA425353753 | ASXL2 | c.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=) | |
2 | g.25742585G>A | CA346076292 | ASXL2 | c.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 |
2 | g.25742585G>C | CA346076294 | ASXL2 | c.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) | |
2 | g.25742585G>T | CA346076295 | ASXL2 | c.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) | |
2 | g.25742586T>A | CA346076296 | ASXL2 | c.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) | |
2 | g.25742586T>C | CA346076298 | ASXL2 | c.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) | |
2 | g.25742586T>G | CA346076299 | ASXL2 | c.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) | |
2 | g.25742587G>A | CA425353757 | ASXL2 | c.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=) | |
2 | g.25742587G>C | CA346076304 | ASXL2 | c.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 |
2 | g.25742587G= | CA1239490532 | ASXL2 | c.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=) | |
2 | g.25742587G>T | CA346076303 | ASXL2 | c.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 |
2 | g.25742588A>C | CA346076308 | ASXL2 | c.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) | |
2 | g.25742588A>G | CA346076310 | ASXL2 | c.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) | |
2 | g.25742588A>T | CA346076312 | ASXL2 | c.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) |