Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.32435878A>C | CA408562490 | ASXL1 | c.3166A>C (p.Thr1056Pro) c.2983A>C (p.Thr995Pro) n.5519A>C c.1869+1297A>C (n.1869+1297A>C) c.3151A>C (p.Thr1051Pro) c.3163A>C (p.Thr1055Pro) c.3136A>C (p.Thr1046Pro) c.3082A>C (p.Thr1028Pro) c.2482A>C (p.Thr828Pro) c.3430A>C (p.Thr1144Pro) c.3427A>C (p.Thr1143Pro) c.3346A>C (p.Thr1116Pro) c.3277A>C (p.Thr1093Pro) c.3145A>C (p.Thr1049Pro) c.3013A>C (p.Thr1005Pro) | |
20 | g.32435878A>G | CA408562491 | ASXL1 | c.3166A>G (p.Thr1056Ala) c.2983A>G (p.Thr995Ala) n.5519A>G c.1869+1297A>G (n.1869+1297A>G) c.3151A>G (p.Thr1051Ala) c.3163A>G (p.Thr1055Ala) c.3136A>G (p.Thr1046Ala) c.3082A>G (p.Thr1028Ala) c.2482A>G (p.Thr828Ala) c.3430A>G (p.Thr1144Ala) c.3427A>G (p.Thr1143Ala) c.3346A>G (p.Thr1116Ala) c.3277A>G (p.Thr1093Ala) c.3145A>G (p.Thr1049Ala) c.3013A>G (p.Thr1005Ala) | |
20 | g.32435878A>T | CA408562492 | ASXL1 | c.3166A>T (p.Thr1056Ser) c.2983A>T (p.Thr995Ser) n.5519A>T c.1869+1297A>T (n.1869+1297A>T) c.3151A>T (p.Thr1051Ser) c.3163A>T (p.Thr1055Ser) c.3136A>T (p.Thr1046Ser) c.3082A>T (p.Thr1028Ser) c.2482A>T (p.Thr828Ser) c.3430A>T (p.Thr1144Ser) c.3427A>T (p.Thr1143Ser) c.3346A>T (p.Thr1116Ser) c.3277A>T (p.Thr1093Ser) c.3145A>T (p.Thr1049Ser) c.3013A>T (p.Thr1005Ser) | |
20 | g.32435879C>A | CA408562493 | ASXL1 | c.3167C>A (p.Thr1056Lys) c.2984C>A (p.Thr995Lys) n.5520C>A c.1869+1298C>A (n.1869+1298C>A) c.3152C>A (p.Thr1051Lys) c.3164C>A (p.Thr1055Lys) c.3137C>A (p.Thr1046Lys) c.3083C>A (p.Thr1028Lys) c.2483C>A (p.Thr828Lys) c.3431C>A (p.Thr1144Lys) c.3428C>A (p.Thr1143Lys) c.3347C>A (p.Thr1116Lys) c.3278C>A (p.Thr1093Lys) c.3146C>A (p.Thr1049Lys) c.3014C>A (p.Thr1005Lys) | |
20 | g.32435879C>G | CA408562494 | ASXL1 | c.3167C>G (p.Thr1056Arg) c.2984C>G (p.Thr995Arg) n.5520C>G c.1869+1298C>G (n.1869+1298C>G) c.3152C>G (p.Thr1051Arg) c.3164C>G (p.Thr1055Arg) c.3137C>G (p.Thr1046Arg) c.3083C>G (p.Thr1028Arg) c.2483C>G (p.Thr828Arg) c.3431C>G (p.Thr1144Arg) c.3428C>G (p.Thr1143Arg) c.3347C>G (p.Thr1116Arg) c.3278C>G (p.Thr1093Arg) c.3146C>G (p.Thr1049Arg) c.3014C>G (p.Thr1005Arg) | dbSNP |
20 | g.32435879C>T | CA408562495 | ASXL1 | c.3167C>T (p.Thr1056Ile) c.2984C>T (p.Thr995Ile) n.5520C>T c.1869+1298C>T (n.1869+1298C>T) c.3152C>T (p.Thr1051Ile) c.3164C>T (p.Thr1055Ile) c.3137C>T (p.Thr1046Ile) c.3083C>T (p.Thr1028Ile) c.2483C>T (p.Thr828Ile) c.3431C>T (p.Thr1144Ile) c.3428C>T (p.Thr1143Ile) c.3347C>T (p.Thr1116Ile) c.3278C>T (p.Thr1093Ile) c.3146C>T (p.Thr1049Ile) c.3014C>T (p.Thr1005Ile) | |
20 | g.32435880A>C | CA510467013 | ASXL1 | c.3168A>C (p.Thr1056=) c.2985A>C (p.Thr995=) n.5521A>C c.1869+1299A>C (n.1869+1299A>C) c.3153A>C (p.Thr1051=) c.3165A>C (p.Thr1055=) c.3138A>C (p.Thr1046=) c.3084A>C (p.Thr1028=) c.2484A>C (p.Thr828=) c.3432A>C (p.Thr1144=) c.3429A>C (p.Thr1143=) c.3348A>C (p.Thr1116=) c.3279A>C (p.Thr1093=) c.3147A>C (p.Thr1049=) c.3015A>C (p.Thr1005=) | ClinVar |
20 | g.32435880A>G | CA510467007 | ASXL1 | c.3168A>G (p.Thr1056=) c.2985A>G (p.Thr995=) n.5521A>G c.1869+1299A>G (n.1869+1299A>G) c.3153A>G (p.Thr1051=) c.3165A>G (p.Thr1055=) c.3138A>G (p.Thr1046=) c.3084A>G (p.Thr1028=) c.2484A>G (p.Thr828=) c.3432A>G (p.Thr1144=) c.3429A>G (p.Thr1143=) c.3348A>G (p.Thr1116=) c.3279A>G (p.Thr1093=) c.3147A>G (p.Thr1049=) c.3015A>G (p.Thr1005=) | gnomAD v4 |
20 | g.32435880A>T | CA510467006 | ASXL1 | c.3168A>T (p.Thr1056=) c.2985A>T (p.Thr995=) n.5521A>T c.1869+1299A>T (n.1869+1299A>T) c.3153A>T (p.Thr1051=) c.3165A>T (p.Thr1055=) c.3138A>T (p.Thr1046=) c.3084A>T (p.Thr1028=) c.2484A>T (p.Thr828=) c.3432A>T (p.Thr1144=) c.3429A>T (p.Thr1143=) c.3348A>T (p.Thr1116=) c.3279A>T (p.Thr1093=) c.3147A>T (p.Thr1049=) c.3015A>T (p.Thr1005=) | dbSNP |
20 | g.32435881G>A | CA408562498 | ASXL1 | c.3169G>A (p.Asp1057Asn) c.2986G>A (p.Asp996Asn) n.5522G>A c.1869+1300G>A (n.1869+1300G>A) c.3154G>A (p.Asp1052Asn) c.3166G>A (p.Asp1056Asn) c.3139G>A (p.Asp1047Asn) c.3085G>A (p.Asp1029Asn) c.2485G>A (p.Asp829Asn) c.3433G>A (p.Asp1145Asn) c.3430G>A (p.Asp1144Asn) c.3349G>A (p.Asp1117Asn) c.3280G>A (p.Asp1094Asn) c.3148G>A (p.Asp1050Asn) c.3016G>A (p.Asp1006Asn) | |
20 | g.32435881G>C | CA408562497 | ASXL1 | c.3169G>C (p.Asp1057His) c.2986G>C (p.Asp996His) n.5522G>C c.1869+1300G>C (n.1869+1300G>C) c.3154G>C (p.Asp1052His) c.3166G>C (p.Asp1056His) c.3139G>C (p.Asp1047His) c.3085G>C (p.Asp1029His) c.2485G>C (p.Asp829His) c.3433G>C (p.Asp1145His) c.3430G>C (p.Asp1144His) c.3349G>C (p.Asp1117His) c.3280G>C (p.Asp1094His) c.3148G>C (p.Asp1050His) c.3016G>C (p.Asp1006His) | |
20 | g.32435881G>T | CA408562496 | ASXL1 | c.3169G>T (p.Asp1057Tyr) c.2986G>T (p.Asp996Tyr) n.5522G>T c.1869+1300G>T (n.1869+1300G>T) c.3154G>T (p.Asp1052Tyr) c.3166G>T (p.Asp1056Tyr) c.3139G>T (p.Asp1047Tyr) c.3085G>T (p.Asp1029Tyr) c.2485G>T (p.Asp829Tyr) c.3433G>T (p.Asp1145Tyr) c.3430G>T (p.Asp1144Tyr) c.3349G>T (p.Asp1117Tyr) c.3280G>T (p.Asp1094Tyr) c.3148G>T (p.Asp1050Tyr) c.3016G>T (p.Asp1006Tyr) | |
20 | g.32435882A>C | CA408562499 | ASXL1 | c.3170A>C (p.Asp1057Ala) c.2987A>C (p.Asp996Ala) n.5523A>C c.1869+1301A>C (n.1869+1301A>C) c.3155A>C (p.Asp1052Ala) c.3167A>C (p.Asp1056Ala) c.3140A>C (p.Asp1047Ala) c.3086A>C (p.Asp1029Ala) c.2486A>C (p.Asp829Ala) c.3434A>C (p.Asp1145Ala) c.3431A>C (p.Asp1144Ala) c.3350A>C (p.Asp1117Ala) c.3281A>C (p.Asp1094Ala) c.3149A>C (p.Asp1050Ala) c.3017A>C (p.Asp1006Ala) | |
20 | g.32435882A>G | CA408562500 | ASXL1 | c.3170A>G (p.Asp1057Gly) c.2987A>G (p.Asp996Gly) n.5523A>G c.1869+1301A>G (n.1869+1301A>G) c.3155A>G (p.Asp1052Gly) c.3167A>G (p.Asp1056Gly) c.3140A>G (p.Asp1047Gly) c.3086A>G (p.Asp1029Gly) c.2486A>G (p.Asp829Gly) c.3434A>G (p.Asp1145Gly) c.3431A>G (p.Asp1144Gly) c.3350A>G (p.Asp1117Gly) c.3281A>G (p.Asp1094Gly) c.3149A>G (p.Asp1050Gly) c.3017A>G (p.Asp1006Gly) | |
20 | g.32435882A>T | CA408562501 | ASXL1 | c.3170A>T (p.Asp1057Val) c.2987A>T (p.Asp996Val) n.5523A>T c.1869+1301A>T (n.1869+1301A>T) c.3155A>T (p.Asp1052Val) c.3167A>T (p.Asp1056Val) c.3140A>T (p.Asp1047Val) c.3086A>T (p.Asp1029Val) c.2486A>T (p.Asp829Val) c.3434A>T (p.Asp1145Val) c.3431A>T (p.Asp1144Val) c.3350A>T (p.Asp1117Val) c.3281A>T (p.Asp1094Val) c.3149A>T (p.Asp1050Val) c.3017A>T (p.Asp1006Val) | |
20 | g.32435883T>A | CA9808769 | ASXL1 | c.3171T>A (p.Asp1057Glu) c.2988T>A (p.Asp996Glu) n.5524T>A c.1869+1302T>A (n.1869+1302T>A) c.3156T>A (p.Asp1052Glu) c.3168T>A (p.Asp1056Glu) c.3141T>A (p.Asp1047Glu) c.3087T>A (p.Asp1029Glu) c.2487T>A (p.Asp829Glu) c.3435T>A (p.Asp1145Glu) c.3432T>A (p.Asp1144Glu) c.3351T>A (p.Asp1117Glu) c.3282T>A (p.Asp1094Glu) c.3150T>A (p.Asp1050Glu) c.3018T>A (p.Asp1006Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32435883T>C | CA510467018 | ASXL1 | c.3171T>C (p.Asp1057=) c.2988T>C (p.Asp996=) n.5524T>C c.1869+1302T>C (n.1869+1302T>C) c.3156T>C (p.Asp1052=) c.3168T>C (p.Asp1056=) c.3141T>C (p.Asp1047=) c.3087T>C (p.Asp1029=) c.2487T>C (p.Asp829=) c.3435T>C (p.Asp1145=) c.3432T>C (p.Asp1144=) c.3351T>C (p.Asp1117=) c.3282T>C (p.Asp1094=) c.3150T>C (p.Asp1050=) c.3018T>C (p.Asp1006=) | |
20 | g.32435883T>G | CA408562502 | ASXL1 | c.3171T>G (p.Asp1057Glu) c.2988T>G (p.Asp996Glu) n.5524T>G c.1869+1302T>G (n.1869+1302T>G) c.3156T>G (p.Asp1052Glu) c.3168T>G (p.Asp1056Glu) c.3141T>G (p.Asp1047Glu) c.3087T>G (p.Asp1029Glu) c.2487T>G (p.Asp829Glu) c.3435T>G (p.Asp1145Glu) c.3432T>G (p.Asp1144Glu) c.3351T>G (p.Asp1117Glu) c.3282T>G (p.Asp1094Glu) c.3150T>G (p.Asp1050Glu) c.3018T>G (p.Asp1006Glu) | |
20 | g.32435883T= | CA2360293442 | ASXL1 | c.3171T= (p.Asp1057=) c.2988T= (p.Asp996=) n.5524T= c.1869+1302T= (n.1869+1302T=) c.3156T= (p.Asp1052=) c.3168T= (p.Asp1056=) c.3141T= (p.Asp1047=) c.3087T= (p.Asp1029=) c.2487T= (p.Asp829=) c.3435T= (p.Asp1145=) c.3432T= (p.Asp1144=) c.3351T= (p.Asp1117=) c.3282T= (p.Asp1094=) c.3150T= (p.Asp1050=) c.3018T= (p.Asp1006=) | |
20 | g.32435883dup | CA645612961 | ASXL1 | c.3171dup (p.Gly1058TrpfsTer29) c.2988dup (p.Gly997TrpfsTer29) n.5524dup c.1869+1302dup (n.1869+1302dup) c.3156dup (p.Gly1053TrpfsTer29) c.3168dup (p.Gly1057TrpfsTer29) c.3141dup (p.Gly1048TrpfsTer29) c.3087dup (p.Gly1030TrpfsTer29) c.2487dup (p.Gly830TrpfsTer29) c.3435dup (p.Gly1146TrpfsTer29) c.3432dup (p.Gly1145TrpfsTer29) c.3351dup (p.Gly1118TrpfsTer29) c.3282dup (p.Gly1095TrpfsTer29) c.3150dup (p.Gly1051TrpfsTer29) c.3018dup (p.Gly1007TrpfsTer29) | COSMIC COSMIC |
20 | g.32435884G>A | CA9808770 | ASXL1 | c.3172G>A (p.Gly1058Arg) c.2989G>A (p.Gly997Arg) n.5525G>A c.1869+1303G>A (n.1869+1303G>A) c.3157G>A (p.Gly1053Arg) c.3169G>A (p.Gly1057Arg) c.3142G>A (p.Gly1048Arg) c.3088G>A (p.Gly1030Arg) c.2488G>A (p.Gly830Arg) c.3436G>A (p.Gly1146Arg) c.3433G>A (p.Gly1145Arg) c.3352G>A (p.Gly1118Arg) c.3283G>A (p.Gly1095Arg) c.3151G>A (p.Gly1051Arg) c.3019G>A (p.Gly1007Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32435884G>C | CA408562503 | ASXL1 | c.3172G>C (p.Gly1058Arg) c.2989G>C (p.Gly997Arg) n.5525G>C c.1869+1303G>C (n.1869+1303G>C) c.3157G>C (p.Gly1053Arg) c.3169G>C (p.Gly1057Arg) c.3142G>C (p.Gly1048Arg) c.3088G>C (p.Gly1030Arg) c.2488G>C (p.Gly830Arg) c.3436G>C (p.Gly1146Arg) c.3433G>C (p.Gly1145Arg) c.3352G>C (p.Gly1118Arg) c.3283G>C (p.Gly1095Arg) c.3151G>C (p.Gly1051Arg) c.3019G>C (p.Gly1007Arg) | |
20 | g.32435884G= | CA2360293443 | ASXL1 | c.3172G= (p.Gly1058=) c.2989G= (p.Gly997=) n.5525G= c.1869+1303G= (n.1869+1303G=) c.3157G= (p.Gly1053=) c.3169G= (p.Gly1057=) c.3142G= (p.Gly1048=) c.3088G= (p.Gly1030=) c.2488G= (p.Gly830=) c.3436G= (p.Gly1146=) c.3433G= (p.Gly1145=) c.3352G= (p.Gly1118=) c.3283G= (p.Gly1095=) c.3151G= (p.Gly1051=) c.3019G= (p.Gly1007=) | |
20 | g.32435884G>T | CA408562504 | ASXL1 | c.3172G>T (p.Gly1058Trp) c.2989G>T (p.Gly997Trp) n.5525G>T c.1869+1303G>T (n.1869+1303G>T) c.3157G>T (p.Gly1053Trp) c.3169G>T (p.Gly1057Trp) c.3142G>T (p.Gly1048Trp) c.3088G>T (p.Gly1030Trp) c.2488G>T (p.Gly830Trp) c.3436G>T (p.Gly1146Trp) c.3433G>T (p.Gly1145Trp) c.3352G>T (p.Gly1118Trp) c.3283G>T (p.Gly1095Trp) c.3151G>T (p.Gly1051Trp) c.3019G>T (p.Gly1007Trp) | |
20 | g.32435886del | CA2736726658 | ASXL1 | c.3174del (p.Met1059TrpfsTer?) c.2991del (p.Met998TrpfsTer?) n.5527del c.1869+1305del (n.1869+1305del) c.3159del (p.Met1054TrpfsTer?) c.3171del (p.Met1058TrpfsTer?) c.3144del (p.Met1049TrpfsTer?) c.3090del (p.Met1031TrpfsTer?) c.2490del (p.Met831TrpfsTer?) c.3438del (p.Met1147TrpfsTer?) c.3435del (p.Met1146TrpfsTer?) c.3354del (p.Met1119TrpfsTer?) c.3285del (p.Met1096TrpfsTer?) c.3153del (p.Met1052TrpfsTer?) c.3021del (p.Met1008TrpfsTer?) | dbSNP |
20 | g.32435885G>A | CA408562505 | ASXL1 | c.3173G>A (p.Gly1058Glu) c.2990G>A (p.Gly997Glu) n.5526G>A c.1869+1304G>A (n.1869+1304G>A) c.3158G>A (p.Gly1053Glu) c.3170G>A (p.Gly1057Glu) c.3143G>A (p.Gly1048Glu) c.3089G>A (p.Gly1030Glu) c.2489G>A (p.Gly830Glu) c.3437G>A (p.Gly1146Glu) c.3434G>A (p.Gly1145Glu) c.3353G>A (p.Gly1118Glu) c.3284G>A (p.Gly1095Glu) c.3152G>A (p.Gly1051Glu) c.3020G>A (p.Gly1007Glu) | |
20 | g.32435885G>C | CA408562506 | ASXL1 | c.3173G>C (p.Gly1058Ala) c.2990G>C (p.Gly997Ala) n.5526G>C c.1869+1304G>C (n.1869+1304G>C) c.3158G>C (p.Gly1053Ala) c.3170G>C (p.Gly1057Ala) c.3143G>C (p.Gly1048Ala) c.3089G>C (p.Gly1030Ala) c.2489G>C (p.Gly830Ala) c.3437G>C (p.Gly1146Ala) c.3434G>C (p.Gly1145Ala) c.3353G>C (p.Gly1118Ala) c.3284G>C (p.Gly1095Ala) c.3152G>C (p.Gly1051Ala) c.3020G>C (p.Gly1007Ala) | |
20 | g.32435885G>T | CA408562507 | ASXL1 | c.3173G>T (p.Gly1058Val) c.2990G>T (p.Gly997Val) n.5526G>T c.1869+1304G>T (n.1869+1304G>T) c.3158G>T (p.Gly1053Val) c.3170G>T (p.Gly1057Val) c.3143G>T (p.Gly1048Val) c.3089G>T (p.Gly1030Val) c.2489G>T (p.Gly830Val) c.3437G>T (p.Gly1146Val) c.3434G>T (p.Gly1145Val) c.3353G>T (p.Gly1118Val) c.3284G>T (p.Gly1095Val) c.3152G>T (p.Gly1051Val) c.3020G>T (p.Gly1007Val) | |
20 | g.32435886G>A | CA510467022 | ASXL1 | c.3174G>A (p.Gly1058=) c.2991G>A (p.Gly997=) n.5527G>A c.1869+1305G>A (n.1869+1305G>A) c.3159G>A (p.Gly1053=) c.3171G>A (p.Gly1057=) c.3144G>A (p.Gly1048=) c.3090G>A (p.Gly1030=) c.2490G>A (p.Gly830=) c.3438G>A (p.Gly1146=) c.3435G>A (p.Gly1145=) c.3354G>A (p.Gly1118=) c.3285G>A (p.Gly1095=) c.3153G>A (p.Gly1051=) c.3021G>A (p.Gly1007=) | gnomAD v4 |
20 | g.32435886G>C | CA510467023 | ASXL1 | c.3174G>C (p.Gly1058=) c.2991G>C (p.Gly997=) n.5527G>C c.1869+1305G>C (n.1869+1305G>C) c.3159G>C (p.Gly1053=) c.3171G>C (p.Gly1057=) c.3144G>C (p.Gly1048=) c.3090G>C (p.Gly1030=) c.2490G>C (p.Gly830=) c.3438G>C (p.Gly1146=) c.3435G>C (p.Gly1145=) c.3354G>C (p.Gly1118=) c.3285G>C (p.Gly1095=) c.3153G>C (p.Gly1051=) c.3021G>C (p.Gly1007=) | |
20 | g.32435886G>T | CA510467024 | ASXL1 | c.3174G>T (p.Gly1058=) c.2991G>T (p.Gly997=) n.5527G>T c.1869+1305G>T (n.1869+1305G>T) c.3159G>T (p.Gly1053=) c.3171G>T (p.Gly1057=) c.3144G>T (p.Gly1048=) c.3090G>T (p.Gly1030=) c.2490G>T (p.Gly830=) c.3438G>T (p.Gly1146=) c.3435G>T (p.Gly1145=) c.3354G>T (p.Gly1118=) c.3285G>T (p.Gly1095=) c.3153G>T (p.Gly1051=) c.3021G>T (p.Gly1007=) | |
20 | g.32435887A= | CA2360293444 | ASXL1 | c.3175A= (p.Met1059=) c.2992A= (p.Met998=) n.5528A= c.1869+1306A= (n.1869+1306A=) c.3160A= (p.Met1054=) c.3172A= (p.Met1058=) c.3145A= (p.Met1049=) c.3091A= (p.Met1031=) c.2491A= (p.Met831=) c.3439A= (p.Met1147=) c.3436A= (p.Met1146=) c.3355A= (p.Met1119=) c.3286A= (p.Met1096=) c.3154A= (p.Met1052=) c.3022A= (p.Met1008=) | |
20 | g.32435887A>C | CA408562510 | ASXL1 | c.3175A>C (p.Met1059Leu) c.2992A>C (p.Met998Leu) n.5528A>C c.1869+1306A>C (n.1869+1306A>C) c.3160A>C (p.Met1054Leu) c.3172A>C (p.Met1058Leu) c.3145A>C (p.Met1049Leu) c.3091A>C (p.Met1031Leu) c.2491A>C (p.Met831Leu) c.3439A>C (p.Met1147Leu) c.3436A>C (p.Met1146Leu) c.3355A>C (p.Met1119Leu) c.3286A>C (p.Met1096Leu) c.3154A>C (p.Met1052Leu) c.3022A>C (p.Met1008Leu) | |
20 | g.32435887A>G | CA408562509 | ASXL1 | c.3175A>G (p.Met1059Val) c.2992A>G (p.Met998Val) n.5528A>G c.1869+1306A>G (n.1869+1306A>G) c.3160A>G (p.Met1054Val) c.3172A>G (p.Met1058Val) c.3145A>G (p.Met1049Val) c.3091A>G (p.Met1031Val) c.2491A>G (p.Met831Val) c.3439A>G (p.Met1147Val) c.3436A>G (p.Met1146Val) c.3355A>G (p.Met1119Val) c.3286A>G (p.Met1096Val) c.3154A>G (p.Met1052Val) c.3022A>G (p.Met1008Val) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32435887A>T | CA408562508 | ASXL1 | c.3175A>T (p.Met1059Leu) c.2992A>T (p.Met998Leu) n.5528A>T c.1869+1306A>T (n.1869+1306A>T) c.3160A>T (p.Met1054Leu) c.3172A>T (p.Met1058Leu) c.3145A>T (p.Met1049Leu) c.3091A>T (p.Met1031Leu) c.2491A>T (p.Met831Leu) c.3439A>T (p.Met1147Leu) c.3436A>T (p.Met1146Leu) c.3355A>T (p.Met1119Leu) c.3286A>T (p.Met1096Leu) c.3154A>T (p.Met1052Leu) c.3022A>T (p.Met1008Leu) | |
20 | g.32435888T>A | CA408562511 | ASXL1 | c.3176T>A (p.Met1059Lys) c.2993T>A (p.Met998Lys) n.5529T>A c.1869+1307T>A (n.1869+1307T>A) c.3161T>A (p.Met1054Lys) c.3173T>A (p.Met1058Lys) c.3146T>A (p.Met1049Lys) c.3092T>A (p.Met1031Lys) c.2492T>A (p.Met831Lys) c.3440T>A (p.Met1147Lys) c.3437T>A (p.Met1146Lys) c.3356T>A (p.Met1119Lys) c.3287T>A (p.Met1096Lys) c.3155T>A (p.Met1052Lys) c.3023T>A (p.Met1008Lys) | |
20 | g.32435888T>C | CA408562512 | ASXL1 | c.3176T>C (p.Met1059Thr) c.2993T>C (p.Met998Thr) n.5529T>C c.1869+1307T>C (n.1869+1307T>C) c.3161T>C (p.Met1054Thr) c.3173T>C (p.Met1058Thr) c.3146T>C (p.Met1049Thr) c.3092T>C (p.Met1031Thr) c.2492T>C (p.Met831Thr) c.3440T>C (p.Met1147Thr) c.3437T>C (p.Met1146Thr) c.3356T>C (p.Met1119Thr) c.3287T>C (p.Met1096Thr) c.3155T>C (p.Met1052Thr) c.3023T>C (p.Met1008Thr) | |
20 | g.32435888T>G | CA408562513 | ASXL1 | c.3176T>G (p.Met1059Arg) c.2993T>G (p.Met998Arg) n.5529T>G c.1869+1307T>G (n.1869+1307T>G) c.3161T>G (p.Met1054Arg) c.3173T>G (p.Met1058Arg) c.3146T>G (p.Met1049Arg) c.3092T>G (p.Met1031Arg) c.2492T>G (p.Met831Arg) c.3440T>G (p.Met1147Arg) c.3437T>G (p.Met1146Arg) c.3356T>G (p.Met1119Arg) c.3287T>G (p.Met1096Arg) c.3155T>G (p.Met1052Arg) c.3023T>G (p.Met1008Arg) | |
20 | g.32435889G>A | CA408562514 | ASXL1 | c.3177G>A (p.Met1059Ile) c.2994G>A (p.Met998Ile) n.5530G>A c.1869+1308G>A (n.1869+1308G>A) c.3162G>A (p.Met1054Ile) c.3174G>A (p.Met1058Ile) c.3147G>A (p.Met1049Ile) c.3093G>A (p.Met1031Ile) c.2493G>A (p.Met831Ile) c.3441G>A (p.Met1147Ile) c.3438G>A (p.Met1146Ile) c.3357G>A (p.Met1119Ile) c.3288G>A (p.Met1096Ile) c.3156G>A (p.Met1052Ile) c.3024G>A (p.Met1008Ile) | |
20 | g.32435889G>C | CA408562515 | ASXL1 | c.3177G>C (p.Met1059Ile) c.2994G>C (p.Met998Ile) n.5530G>C c.1869+1308G>C (n.1869+1308G>C) c.3162G>C (p.Met1054Ile) c.3174G>C (p.Met1058Ile) c.3147G>C (p.Met1049Ile) c.3093G>C (p.Met1031Ile) c.2493G>C (p.Met831Ile) c.3441G>C (p.Met1147Ile) c.3438G>C (p.Met1146Ile) c.3357G>C (p.Met1119Ile) c.3288G>C (p.Met1096Ile) c.3156G>C (p.Met1052Ile) c.3024G>C (p.Met1008Ile) | gnomAD v4 |
20 | g.32435889G>T | CA408562516 | ASXL1 | c.3177G>T (p.Met1059Ile) c.2994G>T (p.Met998Ile) n.5530G>T c.1869+1308G>T (n.1869+1308G>T) c.3162G>T (p.Met1054Ile) c.3174G>T (p.Met1058Ile) c.3147G>T (p.Met1049Ile) c.3093G>T (p.Met1031Ile) c.2493G>T (p.Met831Ile) c.3441G>T (p.Met1147Ile) c.3438G>T (p.Met1146Ile) c.3357G>T (p.Met1119Ile) c.3288G>T (p.Met1096Ile) c.3156G>T (p.Met1052Ile) c.3024G>T (p.Met1008Ile) | gnomAD v4 |
20 | g.32435890G>A | CA9808771 | ASXL1 | c.3178G>A (p.Val1060Ile) c.2995G>A (p.Val999Ile) n.5531G>A c.1869+1309G>A (n.1869+1309G>A) c.3163G>A (p.Val1055Ile) c.3175G>A (p.Val1059Ile) c.3148G>A (p.Val1050Ile) c.3094G>A (p.Val1032Ile) c.2494G>A (p.Val832Ile) c.3442G>A (p.Val1148Ile) c.3439G>A (p.Val1147Ile) c.3358G>A (p.Val1120Ile) c.3289G>A (p.Val1097Ile) c.3157G>A (p.Val1053Ile) c.3025G>A (p.Val1009Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32435890G>C | CA408562517 | ASXL1 | c.3178G>C (p.Val1060Leu) c.2995G>C (p.Val999Leu) n.5531G>C c.1869+1309G>C (n.1869+1309G>C) c.3163G>C (p.Val1055Leu) c.3175G>C (p.Val1059Leu) c.3148G>C (p.Val1050Leu) c.3094G>C (p.Val1032Leu) c.2494G>C (p.Val832Leu) c.3442G>C (p.Val1148Leu) c.3439G>C (p.Val1147Leu) c.3358G>C (p.Val1120Leu) c.3289G>C (p.Val1097Leu) c.3157G>C (p.Val1053Leu) c.3025G>C (p.Val1009Leu) | |
20 | g.32435890G= | CA2360293445 | ASXL1 | c.3178G= (p.Val1060=) c.2995G= (p.Val999=) n.5531G= c.1869+1309G= (n.1869+1309G=) c.3163G= (p.Val1055=) c.3175G= (p.Val1059=) c.3148G= (p.Val1050=) c.3094G= (p.Val1032=) c.2494G= (p.Val832=) c.3442G= (p.Val1148=) c.3439G= (p.Val1147=) c.3358G= (p.Val1120=) c.3289G= (p.Val1097=) c.3157G= (p.Val1053=) c.3025G= (p.Val1009=) | |
20 | g.32435890G>T | CA408562518 | ASXL1 | c.3178G>T (p.Val1060Phe) c.2995G>T (p.Val999Phe) n.5531G>T c.1869+1309G>T (n.1869+1309G>T) c.3163G>T (p.Val1055Phe) c.3175G>T (p.Val1059Phe) c.3148G>T (p.Val1050Phe) c.3094G>T (p.Val1032Phe) c.2494G>T (p.Val832Phe) c.3442G>T (p.Val1148Phe) c.3439G>T (p.Val1147Phe) c.3358G>T (p.Val1120Phe) c.3289G>T (p.Val1097Phe) c.3157G>T (p.Val1053Phe) c.3025G>T (p.Val1009Phe) | dbSNP gnomAD v4 |
20 | g.32435891T>A | CA408562519 | ASXL1 | c.3179T>A (p.Val1060Asp) c.2996T>A (p.Val999Asp) n.5532T>A c.1869+1310T>A (n.1869+1310T>A) c.3164T>A (p.Val1055Asp) c.3176T>A (p.Val1059Asp) c.3149T>A (p.Val1050Asp) c.3095T>A (p.Val1032Asp) c.2495T>A (p.Val832Asp) c.3443T>A (p.Val1148Asp) c.3440T>A (p.Val1147Asp) c.3359T>A (p.Val1120Asp) c.3290T>A (p.Val1097Asp) c.3158T>A (p.Val1053Asp) c.3026T>A (p.Val1009Asp) | COSMIC |
20 | g.32435891T>C | CA408562520 | ASXL1 | c.3179T>C (p.Val1060Ala) c.2996T>C (p.Val999Ala) n.5532T>C c.1869+1310T>C (n.1869+1310T>C) c.3164T>C (p.Val1055Ala) c.3176T>C (p.Val1059Ala) c.3149T>C (p.Val1050Ala) c.3095T>C (p.Val1032Ala) c.2495T>C (p.Val832Ala) c.3443T>C (p.Val1148Ala) c.3440T>C (p.Val1147Ala) c.3359T>C (p.Val1120Ala) c.3290T>C (p.Val1097Ala) c.3158T>C (p.Val1053Ala) c.3026T>C (p.Val1009Ala) | dbSNP |
20 | g.32435891T>G | CA408562521 | ASXL1 | c.3179T>G (p.Val1060Gly) c.2996T>G (p.Val999Gly) n.5532T>G c.1869+1310T>G (n.1869+1310T>G) c.3164T>G (p.Val1055Gly) c.3176T>G (p.Val1059Gly) c.3149T>G (p.Val1050Gly) c.3095T>G (p.Val1032Gly) c.2495T>G (p.Val832Gly) c.3443T>G (p.Val1148Gly) c.3440T>G (p.Val1147Gly) c.3359T>G (p.Val1120Gly) c.3290T>G (p.Val1097Gly) c.3158T>G (p.Val1053Gly) c.3026T>G (p.Val1009Gly) | |
20 | g.32435891T= | CA2360293446 | ASXL1 | c.3179T= (p.Val1060=) c.2996T= (p.Val999=) n.5532T= c.1869+1310T= (n.1869+1310T=) c.3164T= (p.Val1055=) c.3176T= (p.Val1059=) c.3149T= (p.Val1050=) c.3095T= (p.Val1032=) c.2495T= (p.Val832=) c.3443T= (p.Val1148=) c.3440T= (p.Val1147=) c.3359T= (p.Val1120=) c.3290T= (p.Val1097=) c.3158T= (p.Val1053=) c.3026T= (p.Val1009=) | |
20 | g.32435892T>A | CA510467039 | ASXL1 | c.3180T>A (p.Val1060=) c.2997T>A (p.Val999=) n.5533T>A c.1869+1311T>A (n.1869+1311T>A) c.3165T>A (p.Val1055=) c.3177T>A (p.Val1059=) c.3150T>A (p.Val1050=) c.3096T>A (p.Val1032=) c.2496T>A (p.Val832=) c.3444T>A (p.Val1148=) c.3441T>A (p.Val1147=) c.3360T>A (p.Val1120=) c.3291T>A (p.Val1097=) c.3159T>A (p.Val1053=) c.3027T>A (p.Val1009=) | |
20 | g.32435892T>C | CA510467040 | ASXL1 | c.3180T>C (p.Val1060=) c.2997T>C (p.Val999=) n.5533T>C c.1869+1311T>C (n.1869+1311T>C) c.3165T>C (p.Val1055=) c.3177T>C (p.Val1059=) c.3150T>C (p.Val1050=) c.3096T>C (p.Val1032=) c.2496T>C (p.Val832=) c.3444T>C (p.Val1148=) c.3441T>C (p.Val1147=) c.3360T>C (p.Val1120=) c.3291T>C (p.Val1097=) c.3159T>C (p.Val1053=) c.3027T>C (p.Val1009=) | |
20 | g.32435892T>G | CA510467043 | ASXL1 | c.3180T>G (p.Val1060=) c.2997T>G (p.Val999=) n.5533T>G c.1869+1311T>G (n.1869+1311T>G) c.3165T>G (p.Val1055=) c.3177T>G (p.Val1059=) c.3150T>G (p.Val1050=) c.3096T>G (p.Val1032=) c.2496T>G (p.Val832=) c.3444T>G (p.Val1148=) c.3441T>G (p.Val1147=) c.3360T>G (p.Val1120=) c.3291T>G (p.Val1097=) c.3159T>G (p.Val1053=) c.3027T>G (p.Val1009=) | |
20 | g.32435893G>A | CA408562524 | ASXL1 | c.3181G>A (p.Ala1061Thr) c.2998G>A (p.Ala1000Thr) n.5534G>A c.1869+1312G>A (n.1869+1312G>A) c.3166G>A (p.Ala1056Thr) c.3178G>A (p.Ala1060Thr) c.3151G>A (p.Ala1051Thr) c.3097G>A (p.Ala1033Thr) c.2497G>A (p.Ala833Thr) c.3445G>A (p.Ala1149Thr) c.3442G>A (p.Ala1148Thr) c.3361G>A (p.Ala1121Thr) c.3292G>A (p.Ala1098Thr) c.3160G>A (p.Ala1054Thr) c.3028G>A (p.Ala1010Thr) | dbSNP |
20 | g.32435893G>C | CA408562522 | ASXL1 | c.3181G>C (p.Ala1061Pro) c.2998G>C (p.Ala1000Pro) n.5534G>C c.1869+1312G>C (n.1869+1312G>C) c.3166G>C (p.Ala1056Pro) c.3178G>C (p.Ala1060Pro) c.3151G>C (p.Ala1051Pro) c.3097G>C (p.Ala1033Pro) c.2497G>C (p.Ala833Pro) c.3445G>C (p.Ala1149Pro) c.3442G>C (p.Ala1148Pro) c.3361G>C (p.Ala1121Pro) c.3292G>C (p.Ala1098Pro) c.3160G>C (p.Ala1054Pro) c.3028G>C (p.Ala1010Pro) | |
20 | g.32435893G>T | CA408562523 | ASXL1 | c.3181G>T (p.Ala1061Ser) c.2998G>T (p.Ala1000Ser) n.5534G>T c.1869+1312G>T (n.1869+1312G>T) c.3166G>T (p.Ala1056Ser) c.3178G>T (p.Ala1060Ser) c.3151G>T (p.Ala1051Ser) c.3097G>T (p.Ala1033Ser) c.2497G>T (p.Ala833Ser) c.3445G>T (p.Ala1149Ser) c.3442G>T (p.Ala1148Ser) c.3361G>T (p.Ala1121Ser) c.3292G>T (p.Ala1098Ser) c.3160G>T (p.Ala1054Ser) c.3028G>T (p.Ala1010Ser) | |
20 | g.32435894C>A | CA408562525 | ASXL1 | c.3182C>A (p.Ala1061Asp) c.2999C>A (p.Ala1000Asp) n.5535C>A c.1869+1313C>A (n.1869+1313C>A) c.3167C>A (p.Ala1056Asp) c.3179C>A (p.Ala1060Asp) c.3152C>A (p.Ala1051Asp) c.3098C>A (p.Ala1033Asp) c.2498C>A (p.Ala833Asp) c.3446C>A (p.Ala1149Asp) c.3443C>A (p.Ala1148Asp) c.3362C>A (p.Ala1121Asp) c.3293C>A (p.Ala1098Asp) c.3161C>A (p.Ala1054Asp) c.3029C>A (p.Ala1010Asp) | |
20 | g.32435894C>G | CA408562526 | ASXL1 | c.3182C>G (p.Ala1061Gly) c.2999C>G (p.Ala1000Gly) n.5535C>G c.1869+1313C>G (n.1869+1313C>G) c.3167C>G (p.Ala1056Gly) c.3179C>G (p.Ala1060Gly) c.3152C>G (p.Ala1051Gly) c.3098C>G (p.Ala1033Gly) c.2498C>G (p.Ala833Gly) c.3446C>G (p.Ala1149Gly) c.3443C>G (p.Ala1148Gly) c.3362C>G (p.Ala1121Gly) c.3293C>G (p.Ala1098Gly) c.3161C>G (p.Ala1054Gly) c.3029C>G (p.Ala1010Gly) | |
20 | g.32435894C>T | CA408562527 | ASXL1 | c.3182C>T (p.Ala1061Val) c.2999C>T (p.Ala1000Val) n.5535C>T c.1869+1313C>T (n.1869+1313C>T) c.3167C>T (p.Ala1056Val) c.3179C>T (p.Ala1060Val) c.3152C>T (p.Ala1051Val) c.3098C>T (p.Ala1033Val) c.2498C>T (p.Ala833Val) c.3446C>T (p.Ala1149Val) c.3443C>T (p.Ala1148Val) c.3362C>T (p.Ala1121Val) c.3293C>T (p.Ala1098Val) c.3161C>T (p.Ala1054Val) c.3029C>T (p.Ala1010Val) | dbSNP gnomAD v4 |
20 | g.32435895T>A | CA510467046 | ASXL1 | c.3183T>A (p.Ala1061=) c.3000T>A (p.Ala1000=) n.5536T>A c.1869+1314T>A (n.1869+1314T>A) c.3168T>A (p.Ala1056=) c.3180T>A (p.Ala1060=) c.3153T>A (p.Ala1051=) c.3099T>A (p.Ala1033=) c.2499T>A (p.Ala833=) c.3447T>A (p.Ala1149=) c.3444T>A (p.Ala1148=) c.3363T>A (p.Ala1121=) c.3294T>A (p.Ala1098=) c.3162T>A (p.Ala1054=) c.3030T>A (p.Ala1010=) | |
20 | g.32435895T>C | CA510467047 | ASXL1 | c.3183T>C (p.Ala1061=) c.3000T>C (p.Ala1000=) n.5536T>C c.1869+1314T>C (n.1869+1314T>C) c.3168T>C (p.Ala1056=) c.3180T>C (p.Ala1060=) c.3153T>C (p.Ala1051=) c.3099T>C (p.Ala1033=) c.2499T>C (p.Ala833=) c.3447T>C (p.Ala1149=) c.3444T>C (p.Ala1148=) c.3363T>C (p.Ala1121=) c.3294T>C (p.Ala1098=) c.3162T>C (p.Ala1054=) c.3030T>C (p.Ala1010=) | |
20 | g.32435895T>G | CA510467048 | ASXL1 | c.3183T>G (p.Ala1061=) c.3000T>G (p.Ala1000=) n.5536T>G c.1869+1314T>G (n.1869+1314T>G) c.3168T>G (p.Ala1056=) c.3180T>G (p.Ala1060=) c.3153T>G (p.Ala1051=) c.3099T>G (p.Ala1033=) c.2499T>G (p.Ala833=) c.3447T>G (p.Ala1149=) c.3444T>G (p.Ala1148=) c.3363T>G (p.Ala1121=) c.3294T>G (p.Ala1098=) c.3162T>G (p.Ala1054=) c.3030T>G (p.Ala1010=) | |
20 | g.32435896C>A | CA408562528 | ASXL1 | c.3184C>A (p.Pro1062Thr) c.3001C>A (p.Pro1001Thr) n.5537C>A c.1869+1315C>A (n.1869+1315C>A) c.3169C>A (p.Pro1057Thr) c.3181C>A (p.Pro1061Thr) c.3154C>A (p.Pro1052Thr) c.3100C>A (p.Pro1034Thr) c.2500C>A (p.Pro834Thr) c.3448C>A (p.Pro1150Thr) c.3445C>A (p.Pro1149Thr) c.3364C>A (p.Pro1122Thr) c.3295C>A (p.Pro1099Thr) c.3163C>A (p.Pro1055Thr) c.3031C>A (p.Pro1011Thr) | |
20 | g.32435896C= | CA2360293447 | ASXL1 | c.3184C= (p.Pro1062=) c.3001C= (p.Pro1001=) n.5537C= c.1869+1315C= (n.1869+1315C=) c.3169C= (p.Pro1057=) c.3181C= (p.Pro1061=) c.3154C= (p.Pro1052=) c.3100C= (p.Pro1034=) c.2500C= (p.Pro834=) c.3448C= (p.Pro1150=) c.3445C= (p.Pro1149=) c.3364C= (p.Pro1122=) c.3295C= (p.Pro1099=) c.3163C= (p.Pro1055=) c.3031C= (p.Pro1011=) | |
20 | g.32435896C>G | CA408562529 | ASXL1 | c.3184C>G (p.Pro1062Ala) c.3001C>G (p.Pro1001Ala) n.5537C>G c.1869+1315C>G (n.1869+1315C>G) c.3169C>G (p.Pro1057Ala) c.3181C>G (p.Pro1061Ala) c.3154C>G (p.Pro1052Ala) c.3100C>G (p.Pro1034Ala) c.2500C>G (p.Pro834Ala) c.3448C>G (p.Pro1150Ala) c.3445C>G (p.Pro1149Ala) c.3364C>G (p.Pro1122Ala) c.3295C>G (p.Pro1099Ala) c.3163C>G (p.Pro1055Ala) c.3031C>G (p.Pro1011Ala) | |
20 | g.32435896C>T | CA9808772 | ASXL1 | c.3184C>T (p.Pro1062Ser) c.3001C>T (p.Pro1001Ser) n.5537C>T c.1869+1315C>T (n.1869+1315C>T) c.3169C>T (p.Pro1057Ser) c.3181C>T (p.Pro1061Ser) c.3154C>T (p.Pro1052Ser) c.3100C>T (p.Pro1034Ser) c.2500C>T (p.Pro834Ser) c.3448C>T (p.Pro1150Ser) c.3445C>T (p.Pro1149Ser) c.3364C>T (p.Pro1122Ser) c.3295C>T (p.Pro1099Ser) c.3163C>T (p.Pro1055Ser) c.3031C>T (p.Pro1011Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
20 | g.32435897C>A | CA408562530 | ASXL1 | c.3185C>A (p.Pro1062His) c.3002C>A (p.Pro1001His) n.5538C>A c.1869+1316C>A (n.1869+1316C>A) c.3170C>A (p.Pro1057His) c.3182C>A (p.Pro1061His) c.3155C>A (p.Pro1052His) c.3101C>A (p.Pro1034His) c.2501C>A (p.Pro834His) c.3449C>A (p.Pro1150His) c.3446C>A (p.Pro1149His) c.3365C>A (p.Pro1122His) c.3296C>A (p.Pro1099His) c.3164C>A (p.Pro1055His) c.3032C>A (p.Pro1011His) | |
20 | g.32435897C>G | CA408562531 | ASXL1 | c.3185C>G (p.Pro1062Arg) c.3002C>G (p.Pro1001Arg) n.5538C>G c.1869+1316C>G (n.1869+1316C>G) c.3170C>G (p.Pro1057Arg) c.3182C>G (p.Pro1061Arg) c.3155C>G (p.Pro1052Arg) c.3101C>G (p.Pro1034Arg) c.2501C>G (p.Pro834Arg) c.3449C>G (p.Pro1150Arg) c.3446C>G (p.Pro1149Arg) c.3365C>G (p.Pro1122Arg) c.3296C>G (p.Pro1099Arg) c.3164C>G (p.Pro1055Arg) c.3032C>G (p.Pro1011Arg) | |
20 | g.32435897C>T | CA408562532 | ASXL1 | c.3185C>T (p.Pro1062Leu) c.3002C>T (p.Pro1001Leu) n.5538C>T c.1869+1316C>T (n.1869+1316C>T) c.3170C>T (p.Pro1057Leu) c.3182C>T (p.Pro1061Leu) c.3155C>T (p.Pro1052Leu) c.3101C>T (p.Pro1034Leu) c.2501C>T (p.Pro834Leu) c.3449C>T (p.Pro1150Leu) c.3446C>T (p.Pro1149Leu) c.3365C>T (p.Pro1122Leu) c.3296C>T (p.Pro1099Leu) c.3164C>T (p.Pro1055Leu) c.3032C>T (p.Pro1011Leu) | |
20 | g.32435898T>A | CA510467058 | ASXL1 | c.3186T>A (p.Pro1062=) c.3003T>A (p.Pro1001=) n.5539T>A c.1869+1317T>A (n.1869+1317T>A) c.3171T>A (p.Pro1057=) c.3183T>A (p.Pro1061=) c.3156T>A (p.Pro1052=) c.3102T>A (p.Pro1034=) c.2502T>A (p.Pro834=) c.3450T>A (p.Pro1150=) c.3447T>A (p.Pro1149=) c.3366T>A (p.Pro1122=) c.3297T>A (p.Pro1099=) c.3165T>A (p.Pro1055=) c.3033T>A (p.Pro1011=) | dbSNP gnomAD v4 |
20 | g.32435898T>C | CA510467057 | ASXL1 | c.3186T>C (p.Pro1062=) c.3003T>C (p.Pro1001=) n.5539T>C c.1869+1317T>C (n.1869+1317T>C) c.3171T>C (p.Pro1057=) c.3183T>C (p.Pro1061=) c.3156T>C (p.Pro1052=) c.3102T>C (p.Pro1034=) c.2502T>C (p.Pro834=) c.3450T>C (p.Pro1150=) c.3447T>C (p.Pro1149=) c.3366T>C (p.Pro1122=) c.3297T>C (p.Pro1099=) c.3165T>C (p.Pro1055=) c.3033T>C (p.Pro1011=) | |
20 | g.32435898T>G | CA510467056 | ASXL1 | c.3186T>G (p.Pro1062=) c.3003T>G (p.Pro1001=) n.5539T>G c.1869+1317T>G (n.1869+1317T>G) c.3171T>G (p.Pro1057=) c.3183T>G (p.Pro1061=) c.3156T>G (p.Pro1052=) c.3102T>G (p.Pro1034=) c.2502T>G (p.Pro834=) c.3450T>G (p.Pro1150=) c.3447T>G (p.Pro1149=) c.3366T>G (p.Pro1122=) c.3297T>G (p.Pro1099=) c.3165T>G (p.Pro1055=) c.3033T>G (p.Pro1011=) | |
20 | g.32435899C>A | CA408562533 | ASXL1 | c.3187C>A (p.Gln1063Lys) c.3004C>A (p.Gln1002Lys) n.5540C>A c.1869+1318C>A (n.1869+1318C>A) c.3172C>A (p.Gln1058Lys) c.3184C>A (p.Gln1062Lys) c.3157C>A (p.Gln1053Lys) c.3103C>A (p.Gln1035Lys) c.2503C>A (p.Gln835Lys) c.3451C>A (p.Gln1151Lys) c.3448C>A (p.Gln1150Lys) c.3367C>A (p.Gln1123Lys) c.3298C>A (p.Gln1100Lys) c.3166C>A (p.Gln1056Lys) c.3034C>A (p.Gln1012Lys) | |
20 | g.32435899C= | CA2360293448 | ASXL1 | c.3187C= (p.Gln1063=) c.3004C= (p.Gln1002=) n.5540C= c.1869+1318C= (n.1869+1318C=) c.3172C= (p.Gln1058=) c.3184C= (p.Gln1062=) c.3157C= (p.Gln1053=) c.3103C= (p.Gln1035=) c.2503C= (p.Gln835=) c.3451C= (p.Gln1151=) c.3448C= (p.Gln1150=) c.3367C= (p.Gln1123=) c.3298C= (p.Gln1100=) c.3166C= (p.Gln1056=) c.3034C= (p.Gln1012=) | |
20 | g.32435899C>G | CA408562534 | ASXL1 | c.3187C>G (p.Gln1063Glu) c.3004C>G (p.Gln1002Glu) n.5540C>G c.1869+1318C>G (n.1869+1318C>G) c.3172C>G (p.Gln1058Glu) c.3184C>G (p.Gln1062Glu) c.3157C>G (p.Gln1053Glu) c.3103C>G (p.Gln1035Glu) c.2503C>G (p.Gln835Glu) c.3451C>G (p.Gln1151Glu) c.3448C>G (p.Gln1150Glu) c.3367C>G (p.Gln1123Glu) c.3298C>G (p.Gln1100Glu) c.3166C>G (p.Gln1056Glu) c.3034C>G (p.Gln1012Glu) | dbSNP |
20 | g.32435899C>T | CA408562535 | ASXL1 | c.3187C>T (p.Gln1063Ter) c.3004C>T (p.Gln1002Ter) n.5540C>T c.1869+1318C>T (n.1869+1318C>T) c.3172C>T (p.Gln1058Ter) c.3184C>T (p.Gln1062Ter) c.3157C>T (p.Gln1053Ter) c.3103C>T (p.Gln1035Ter) c.2503C>T (p.Gln835Ter) c.3451C>T (p.Gln1151Ter) c.3448C>T (p.Gln1150Ter) c.3367C>T (p.Gln1123Ter) c.3298C>T (p.Gln1100Ter) c.3166C>T (p.Gln1056Ter) c.3034C>T (p.Gln1012Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.32435900A= | CA2360293449 | ASXL1 | c.3188A= (p.Gln1063=) c.3005A= (p.Gln1002=) n.5541A= c.1869+1319A= (n.1869+1319A=) c.3173A= (p.Gln1058=) c.3185A= (p.Gln1062=) c.3158A= (p.Gln1053=) c.3104A= (p.Gln1035=) c.2504A= (p.Gln835=) c.3452A= (p.Gln1151=) c.3449A= (p.Gln1150=) c.3368A= (p.Gln1123=) c.3299A= (p.Gln1100=) c.3167A= (p.Gln1056=) c.3035A= (p.Gln1012=) | |
20 | g.32435900A>C | CA408562537 | ASXL1 | c.3188A>C (p.Gln1063Pro) c.3005A>C (p.Gln1002Pro) n.5541A>C c.1869+1319A>C (n.1869+1319A>C) c.3173A>C (p.Gln1058Pro) c.3185A>C (p.Gln1062Pro) c.3158A>C (p.Gln1053Pro) c.3104A>C (p.Gln1035Pro) c.2504A>C (p.Gln835Pro) c.3452A>C (p.Gln1151Pro) c.3449A>C (p.Gln1150Pro) c.3368A>C (p.Gln1123Pro) c.3299A>C (p.Gln1100Pro) c.3167A>C (p.Gln1056Pro) c.3035A>C (p.Gln1012Pro) | |
20 | g.32435900A>G | CA313926340 | ASXL1 | c.3188A>G (p.Gln1063Arg) c.3005A>G (p.Gln1002Arg) n.5541A>G c.1869+1319A>G (n.1869+1319A>G) c.3173A>G (p.Gln1058Arg) c.3185A>G (p.Gln1062Arg) c.3158A>G (p.Gln1053Arg) c.3104A>G (p.Gln1035Arg) c.2504A>G (p.Gln835Arg) c.3452A>G (p.Gln1151Arg) c.3449A>G (p.Gln1150Arg) c.3368A>G (p.Gln1123Arg) c.3299A>G (p.Gln1100Arg) c.3167A>G (p.Gln1056Arg) c.3035A>G (p.Gln1012Arg) | dbSNP gnomAD v4 |
20 | g.32435900A>T | CA408562536 | ASXL1 | c.3188A>T (p.Gln1063Leu) c.3005A>T (p.Gln1002Leu) n.5541A>T c.1869+1319A>T (n.1869+1319A>T) c.3173A>T (p.Gln1058Leu) c.3185A>T (p.Gln1062Leu) c.3158A>T (p.Gln1053Leu) c.3104A>T (p.Gln1035Leu) c.2504A>T (p.Gln835Leu) c.3452A>T (p.Gln1151Leu) c.3449A>T (p.Gln1150Leu) c.3368A>T (p.Gln1123Leu) c.3299A>T (p.Gln1100Leu) c.3167A>T (p.Gln1056Leu) c.3035A>T (p.Gln1012Leu) | |
20 | g.32435900dup | CA645612963 | ASXL1 | c.3188dup (p.Ser1064GlufsTer23) c.3005dup (p.Ser1003GlufsTer23) n.5541dup c.1869+1319dup (n.1869+1319dup) c.3173dup (p.Ser1059GlufsTer23) c.3185dup (p.Ser1063GlufsTer23) c.3158dup (p.Ser1054GlufsTer23) c.3104dup (p.Ser1036GlufsTer23) c.2504dup (p.Ser836GlufsTer23) c.3452dup (p.Ser1152GlufsTer23) c.3449dup (p.Ser1151GlufsTer23) c.3368dup (p.Ser1124GlufsTer23) c.3299dup (p.Ser1101GlufsTer23) c.3167dup (p.Ser1057GlufsTer23) c.3035dup (p.Ser1013GlufsTer23) | COSMIC COSMIC |
20 | g.32435901G>A | CA510467060 | ASXL1 | c.3189G>A (p.Gln1063=) c.3006G>A (p.Gln1002=) n.5542G>A c.1869+1320G>A (n.1869+1320G>A) c.3174G>A (p.Gln1058=) c.3186G>A (p.Gln1062=) c.3159G>A (p.Gln1053=) c.3105G>A (p.Gln1035=) c.2505G>A (p.Gln835=) c.3453G>A (p.Gln1151=) c.3450G>A (p.Gln1150=) c.3369G>A (p.Gln1123=) c.3300G>A (p.Gln1100=) c.3168G>A (p.Gln1056=) c.3036G>A (p.Gln1012=) | |
20 | g.32435901G>C | CA408562539 | ASXL1 | c.3189G>C (p.Gln1063His) c.3006G>C (p.Gln1002His) n.5542G>C c.1869+1320G>C (n.1869+1320G>C) c.3174G>C (p.Gln1058His) c.3186G>C (p.Gln1062His) c.3159G>C (p.Gln1053His) c.3105G>C (p.Gln1035His) c.2505G>C (p.Gln835His) c.3453G>C (p.Gln1151His) c.3450G>C (p.Gln1150His) c.3369G>C (p.Gln1123His) c.3300G>C (p.Gln1100His) c.3168G>C (p.Gln1056His) c.3036G>C (p.Gln1012His) | |
20 | g.32435901G>T | CA408562538 | ASXL1 | c.3189G>T (p.Gln1063His) c.3006G>T (p.Gln1002His) n.5542G>T c.1869+1320G>T (n.1869+1320G>T) c.3174G>T (p.Gln1058His) c.3186G>T (p.Gln1062His) c.3159G>T (p.Gln1053His) c.3105G>T (p.Gln1035His) c.2505G>T (p.Gln835His) c.3453G>T (p.Gln1151His) c.3450G>T (p.Gln1150His) c.3369G>T (p.Gln1123His) c.3300G>T (p.Gln1100His) c.3168G>T (p.Gln1056His) c.3036G>T (p.Gln1012His) | |
20 | g.32435902A>C | CA408562540 | ASXL1 | c.3190A>C (p.Ser1064Arg) c.3007A>C (p.Ser1003Arg) n.5543A>C c.1869+1321A>C (n.1869+1321A>C) c.3175A>C (p.Ser1059Arg) c.3187A>C (p.Ser1063Arg) c.3160A>C (p.Ser1054Arg) c.3106A>C (p.Ser1036Arg) c.2506A>C (p.Ser836Arg) c.3454A>C (p.Ser1152Arg) c.3451A>C (p.Ser1151Arg) c.3370A>C (p.Ser1124Arg) c.3301A>C (p.Ser1101Arg) c.3169A>C (p.Ser1057Arg) c.3037A>C (p.Ser1013Arg) | |
20 | g.32435902A>G | CA408562541 | ASXL1 | c.3190A>G (p.Ser1064Gly) c.3007A>G (p.Ser1003Gly) n.5543A>G c.1869+1321A>G (n.1869+1321A>G) c.3175A>G (p.Ser1059Gly) c.3187A>G (p.Ser1063Gly) c.3160A>G (p.Ser1054Gly) c.3106A>G (p.Ser1036Gly) c.2506A>G (p.Ser836Gly) c.3454A>G (p.Ser1152Gly) c.3451A>G (p.Ser1151Gly) c.3370A>G (p.Ser1124Gly) c.3301A>G (p.Ser1101Gly) c.3169A>G (p.Ser1057Gly) c.3037A>G (p.Ser1013Gly) | gnomAD v4 |
20 | g.32435902A>T | CA408562542 | ASXL1 | c.3190A>T (p.Ser1064Cys) c.3007A>T (p.Ser1003Cys) n.5543A>T c.1869+1321A>T (n.1869+1321A>T) c.3175A>T (p.Ser1059Cys) c.3187A>T (p.Ser1063Cys) c.3160A>T (p.Ser1054Cys) c.3106A>T (p.Ser1036Cys) c.2506A>T (p.Ser836Cys) c.3454A>T (p.Ser1152Cys) c.3451A>T (p.Ser1151Cys) c.3370A>T (p.Ser1124Cys) c.3301A>T (p.Ser1101Cys) c.3169A>T (p.Ser1057Cys) c.3037A>T (p.Ser1013Cys) | |
20 | g.32435903G>A | CA408562543 | ASXL1 | c.3191G>A (p.Ser1064Asn) c.3008G>A (p.Ser1003Asn) n.5544G>A c.1869+1322G>A (n.1869+1322G>A) c.3176G>A (p.Ser1059Asn) c.3188G>A (p.Ser1063Asn) c.3161G>A (p.Ser1054Asn) c.3107G>A (p.Ser1036Asn) c.2507G>A (p.Ser836Asn) c.3455G>A (p.Ser1152Asn) c.3452G>A (p.Ser1151Asn) c.3371G>A (p.Ser1124Asn) c.3302G>A (p.Ser1101Asn) c.3170G>A (p.Ser1057Asn) c.3038G>A (p.Ser1013Asn) | |
20 | g.32435903G>C | CA408562544 | ASXL1 | c.3191G>C (p.Ser1064Thr) c.3008G>C (p.Ser1003Thr) n.5544G>C c.1869+1322G>C (n.1869+1322G>C) c.3176G>C (p.Ser1059Thr) c.3188G>C (p.Ser1063Thr) c.3161G>C (p.Ser1054Thr) c.3107G>C (p.Ser1036Thr) c.2507G>C (p.Ser836Thr) c.3455G>C (p.Ser1152Thr) c.3452G>C (p.Ser1151Thr) c.3371G>C (p.Ser1124Thr) c.3302G>C (p.Ser1101Thr) c.3170G>C (p.Ser1057Thr) c.3038G>C (p.Ser1013Thr) | |
20 | g.32435903G>T | CA408562545 | ASXL1 | c.3191G>T (p.Ser1064Ile) c.3008G>T (p.Ser1003Ile) n.5544G>T c.1869+1322G>T (n.1869+1322G>T) c.3176G>T (p.Ser1059Ile) c.3188G>T (p.Ser1063Ile) c.3161G>T (p.Ser1054Ile) c.3107G>T (p.Ser1036Ile) c.2507G>T (p.Ser836Ile) c.3455G>T (p.Ser1152Ile) c.3452G>T (p.Ser1151Ile) c.3371G>T (p.Ser1124Ile) c.3302G>T (p.Ser1101Ile) c.3170G>T (p.Ser1057Ile) c.3038G>T (p.Ser1013Ile) | |
20 | g.32435904C>A | CA408562546 | ASXL1 | c.3192C>A (p.Ser1064Arg) c.3009C>A (p.Ser1003Arg) n.5545C>A c.1869+1323C>A (n.1869+1323C>A) c.3177C>A (p.Ser1059Arg) c.3189C>A (p.Ser1063Arg) c.3162C>A (p.Ser1054Arg) c.3108C>A (p.Ser1036Arg) c.2508C>A (p.Ser836Arg) c.3456C>A (p.Ser1152Arg) c.3453C>A (p.Ser1151Arg) c.3372C>A (p.Ser1124Arg) c.3303C>A (p.Ser1101Arg) c.3171C>A (p.Ser1057Arg) c.3039C>A (p.Ser1013Arg) | gnomAD v4 |
20 | g.32435904C>G | CA408562547 | ASXL1 | c.3192C>G (p.Ser1064Arg) c.3009C>G (p.Ser1003Arg) n.5545C>G c.1869+1323C>G (n.1869+1323C>G) c.3177C>G (p.Ser1059Arg) c.3189C>G (p.Ser1063Arg) c.3162C>G (p.Ser1054Arg) c.3108C>G (p.Ser1036Arg) c.2508C>G (p.Ser836Arg) c.3456C>G (p.Ser1152Arg) c.3453C>G (p.Ser1151Arg) c.3372C>G (p.Ser1124Arg) c.3303C>G (p.Ser1101Arg) c.3171C>G (p.Ser1057Arg) c.3039C>G (p.Ser1013Arg) | |
20 | g.32435904C>T | CA510467062 | ASXL1 | c.3192C>T (p.Ser1064=) c.3009C>T (p.Ser1003=) n.5545C>T c.1869+1323C>T (n.1869+1323C>T) c.3177C>T (p.Ser1059=) c.3189C>T (p.Ser1063=) c.3162C>T (p.Ser1054=) c.3108C>T (p.Ser1036=) c.2508C>T (p.Ser836=) c.3456C>T (p.Ser1152=) c.3453C>T (p.Ser1151=) c.3372C>T (p.Ser1124=) c.3303C>T (p.Ser1101=) c.3171C>T (p.Ser1057=) c.3039C>T (p.Ser1013=) | dbSNP gnomAD v4 |
20 | g.32435905T>A | CA408562548 | ASXL1 | c.3193T>A (p.Trp1065Arg) c.3010T>A (p.Trp1004Arg) n.5546T>A c.1869+1324T>A (n.1869+1324T>A) c.3178T>A (p.Trp1060Arg) c.3190T>A (p.Trp1064Arg) c.3163T>A (p.Trp1055Arg) c.3109T>A (p.Trp1037Arg) c.2509T>A (p.Trp837Arg) c.3457T>A (p.Trp1153Arg) c.3454T>A (p.Trp1152Arg) c.3373T>A (p.Trp1125Arg) c.3304T>A (p.Trp1102Arg) c.3172T>A (p.Trp1058Arg) c.3040T>A (p.Trp1014Arg) | |
20 | g.32435905T>C | CA408562549 | ASXL1 | c.3193T>C (p.Trp1065Arg) c.3010T>C (p.Trp1004Arg) n.5546T>C c.1869+1324T>C (n.1869+1324T>C) c.3178T>C (p.Trp1060Arg) c.3190T>C (p.Trp1064Arg) c.3163T>C (p.Trp1055Arg) c.3109T>C (p.Trp1037Arg) c.2509T>C (p.Trp837Arg) c.3457T>C (p.Trp1153Arg) c.3454T>C (p.Trp1152Arg) c.3373T>C (p.Trp1125Arg) c.3304T>C (p.Trp1102Arg) c.3172T>C (p.Trp1058Arg) c.3040T>C (p.Trp1014Arg) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32435905T>G | CA408562550 | ASXL1 | c.3193T>G (p.Trp1065Gly) c.3010T>G (p.Trp1004Gly) n.5546T>G c.1869+1324T>G (n.1869+1324T>G) c.3178T>G (p.Trp1060Gly) c.3190T>G (p.Trp1064Gly) c.3163T>G (p.Trp1055Gly) c.3109T>G (p.Trp1037Gly) c.2509T>G (p.Trp837Gly) c.3457T>G (p.Trp1153Gly) c.3454T>G (p.Trp1152Gly) c.3373T>G (p.Trp1125Gly) c.3304T>G (p.Trp1102Gly) c.3172T>G (p.Trp1058Gly) c.3040T>G (p.Trp1014Gly) | |
20 | g.32435905T= | CA2360293450 | ASXL1 | c.3193T= (p.Trp1065=) c.3010T= (p.Trp1004=) n.5546T= c.1869+1324T= (n.1869+1324T=) c.3178T= (p.Trp1060=) c.3190T= (p.Trp1064=) c.3163T= (p.Trp1055=) c.3109T= (p.Trp1037=) c.2509T= (p.Trp837=) c.3457T= (p.Trp1153=) c.3454T= (p.Trp1152=) c.3373T= (p.Trp1125=) c.3304T= (p.Trp1102=) c.3172T= (p.Trp1058=) c.3040T= (p.Trp1014=) | |
20 | g.32435906G>A | CA408562553 | ASXL1 | c.3194G>A (p.Trp1065Ter) c.3011G>A (p.Trp1004Ter) n.5547G>A c.1869+1325G>A (n.1869+1325G>A) c.3179G>A (p.Trp1060Ter) c.3191G>A (p.Trp1064Ter) c.3164G>A (p.Trp1055Ter) c.3110G>A (p.Trp1037Ter) c.2510G>A (p.Trp837Ter) c.3458G>A (p.Trp1153Ter) c.3455G>A (p.Trp1152Ter) c.3374G>A (p.Trp1125Ter) c.3305G>A (p.Trp1102Ter) c.3173G>A (p.Trp1058Ter) c.3041G>A (p.Trp1014Ter) | ClinVar dbSNP gnomAD v4 |
20 | g.32435906G>C | CA408562551 | ASXL1 | c.3194G>C (p.Trp1065Ser) c.3011G>C (p.Trp1004Ser) n.5547G>C c.1869+1325G>C (n.1869+1325G>C) c.3179G>C (p.Trp1060Ser) c.3191G>C (p.Trp1064Ser) c.3164G>C (p.Trp1055Ser) c.3110G>C (p.Trp1037Ser) c.2510G>C (p.Trp837Ser) c.3458G>C (p.Trp1153Ser) c.3455G>C (p.Trp1152Ser) c.3374G>C (p.Trp1125Ser) c.3305G>C (p.Trp1102Ser) c.3173G>C (p.Trp1058Ser) c.3041G>C (p.Trp1014Ser) | |
20 | g.32435906G>T | CA408562552 | ASXL1 | c.3194G>T (p.Trp1065Leu) c.3011G>T (p.Trp1004Leu) n.5547G>T c.1869+1325G>T (n.1869+1325G>T) c.3179G>T (p.Trp1060Leu) c.3191G>T (p.Trp1064Leu) c.3164G>T (p.Trp1055Leu) c.3110G>T (p.Trp1037Leu) c.2510G>T (p.Trp837Leu) c.3458G>T (p.Trp1153Leu) c.3455G>T (p.Trp1152Leu) c.3374G>T (p.Trp1125Leu) c.3305G>T (p.Trp1102Leu) c.3173G>T (p.Trp1058Leu) c.3041G>T (p.Trp1014Leu) | |
20 | g.32435907G>A | CA408562554 | ASXL1 | c.3195G>A (p.Trp1065Ter) c.3012G>A (p.Trp1004Ter) n.5548G>A c.1869+1326G>A (n.1869+1326G>A) c.3180G>A (p.Trp1060Ter) c.3192G>A (p.Trp1064Ter) c.3165G>A (p.Trp1055Ter) c.3111G>A (p.Trp1037Ter) c.2511G>A (p.Trp837Ter) c.3459G>A (p.Trp1153Ter) c.3456G>A (p.Trp1152Ter) c.3375G>A (p.Trp1125Ter) c.3306G>A (p.Trp1102Ter) c.3174G>A (p.Trp1058Ter) c.3042G>A (p.Trp1014Ter) | COSMIC COSMIC |
20 | g.32435907G>C | CA408562555 | ASXL1 | c.3195G>C (p.Trp1065Cys) c.3012G>C (p.Trp1004Cys) n.5548G>C c.1869+1326G>C (n.1869+1326G>C) c.3180G>C (p.Trp1060Cys) c.3192G>C (p.Trp1064Cys) c.3165G>C (p.Trp1055Cys) c.3111G>C (p.Trp1037Cys) c.2511G>C (p.Trp837Cys) c.3459G>C (p.Trp1153Cys) c.3456G>C (p.Trp1152Cys) c.3375G>C (p.Trp1125Cys) c.3306G>C (p.Trp1102Cys) c.3174G>C (p.Trp1058Cys) c.3042G>C (p.Trp1014Cys) | |
20 | g.32435907G>T | CA408562556 | ASXL1 | c.3195G>T (p.Trp1065Cys) c.3012G>T (p.Trp1004Cys) n.5548G>T c.1869+1326G>T (n.1869+1326G>T) c.3180G>T (p.Trp1060Cys) c.3192G>T (p.Trp1064Cys) c.3165G>T (p.Trp1055Cys) c.3111G>T (p.Trp1037Cys) c.2511G>T (p.Trp837Cys) c.3459G>T (p.Trp1153Cys) c.3456G>T (p.Trp1152Cys) c.3375G>T (p.Trp1125Cys) c.3306G>T (p.Trp1102Cys) c.3174G>T (p.Trp1058Cys) c.3042G>T (p.Trp1014Cys) | |
20 | g.32435908G>A | CA408562557 | ASXL1 | c.3196G>A (p.Val1066Met) c.3013G>A (p.Val1005Met) n.5549G>A c.1869+1327G>A (n.1869+1327G>A) c.3181G>A (p.Val1061Met) c.3193G>A (p.Val1065Met) c.3166G>A (p.Val1056Met) c.3112G>A (p.Val1038Met) c.2512G>A (p.Val838Met) c.3460G>A (p.Val1154Met) c.3457G>A (p.Val1153Met) c.3376G>A (p.Val1126Met) c.3307G>A (p.Val1103Met) c.3175G>A (p.Val1059Met) c.3043G>A (p.Val1015Met) | |
20 | g.32435908G>C | CA408562558 | ASXL1 | c.3196G>C (p.Val1066Leu) c.3013G>C (p.Val1005Leu) n.5549G>C c.1869+1327G>C (n.1869+1327G>C) c.3181G>C (p.Val1061Leu) c.3193G>C (p.Val1065Leu) c.3166G>C (p.Val1056Leu) c.3112G>C (p.Val1038Leu) c.2512G>C (p.Val838Leu) c.3460G>C (p.Val1154Leu) c.3457G>C (p.Val1153Leu) c.3376G>C (p.Val1126Leu) c.3307G>C (p.Val1103Leu) c.3175G>C (p.Val1059Leu) c.3043G>C (p.Val1015Leu) | |
20 | g.32435908G>T | CA408562559 | ASXL1 | c.3196G>T (p.Val1066Leu) c.3013G>T (p.Val1005Leu) n.5549G>T c.1869+1327G>T (n.1869+1327G>T) c.3181G>T (p.Val1061Leu) c.3193G>T (p.Val1065Leu) c.3166G>T (p.Val1056Leu) c.3112G>T (p.Val1038Leu) c.2512G>T (p.Val838Leu) c.3460G>T (p.Val1154Leu) c.3457G>T (p.Val1153Leu) c.3376G>T (p.Val1126Leu) c.3307G>T (p.Val1103Leu) c.3175G>T (p.Val1059Leu) c.3043G>T (p.Val1015Leu) | |
20 | g.32435909T>A | CA408562560 | ASXL1 | c.3197T>A (p.Val1066Glu) c.3014T>A (p.Val1005Glu) n.5550T>A c.1869+1328T>A (n.1869+1328T>A) c.3182T>A (p.Val1061Glu) c.3194T>A (p.Val1065Glu) c.3167T>A (p.Val1056Glu) c.3113T>A (p.Val1038Glu) c.2513T>A (p.Val838Glu) c.3461T>A (p.Val1154Glu) c.3458T>A (p.Val1153Glu) c.3377T>A (p.Val1126Glu) c.3308T>A (p.Val1103Glu) c.3176T>A (p.Val1059Glu) c.3044T>A (p.Val1015Glu) | |
20 | g.32435909T>C | CA408562561 | ASXL1 | c.3197T>C (p.Val1066Ala) c.3014T>C (p.Val1005Ala) n.5550T>C c.1869+1328T>C (n.1869+1328T>C) c.3182T>C (p.Val1061Ala) c.3194T>C (p.Val1065Ala) c.3167T>C (p.Val1056Ala) c.3113T>C (p.Val1038Ala) c.2513T>C (p.Val838Ala) c.3461T>C (p.Val1154Ala) c.3458T>C (p.Val1153Ala) c.3377T>C (p.Val1126Ala) c.3308T>C (p.Val1103Ala) c.3176T>C (p.Val1059Ala) c.3044T>C (p.Val1015Ala) | |
20 | g.32435909T>G | CA408562562 | ASXL1 | c.3197T>G (p.Val1066Gly) c.3014T>G (p.Val1005Gly) n.5550T>G c.1869+1328T>G (n.1869+1328T>G) c.3182T>G (p.Val1061Gly) c.3194T>G (p.Val1065Gly) c.3167T>G (p.Val1056Gly) c.3113T>G (p.Val1038Gly) c.2513T>G (p.Val838Gly) c.3461T>G (p.Val1154Gly) c.3458T>G (p.Val1153Gly) c.3377T>G (p.Val1126Gly) c.3308T>G (p.Val1103Gly) c.3176T>G (p.Val1059Gly) c.3044T>G (p.Val1015Gly) | |
20 | g.32435910G>A | CA510467073 | ASXL1 | c.3198G>A (p.Val1066=) c.3015G>A (p.Val1005=) n.5551G>A c.1869+1329G>A (n.1869+1329G>A) c.3183G>A (p.Val1061=) c.3195G>A (p.Val1065=) c.3168G>A (p.Val1056=) c.3114G>A (p.Val1038=) c.2514G>A (p.Val838=) c.3462G>A (p.Val1154=) c.3459G>A (p.Val1153=) c.3378G>A (p.Val1126=) c.3309G>A (p.Val1103=) c.3177G>A (p.Val1059=) c.3045G>A (p.Val1015=) | dbSNP |
20 | g.32435910G>C | CA510467072 | ASXL1 | c.3198G>C (p.Val1066=) c.3015G>C (p.Val1005=) n.5551G>C c.1869+1329G>C (n.1869+1329G>C) c.3183G>C (p.Val1061=) c.3195G>C (p.Val1065=) c.3168G>C (p.Val1056=) c.3114G>C (p.Val1038=) c.2514G>C (p.Val838=) c.3462G>C (p.Val1154=) c.3459G>C (p.Val1153=) c.3378G>C (p.Val1126=) c.3309G>C (p.Val1103=) c.3177G>C (p.Val1059=) c.3045G>C (p.Val1015=) | |
20 | g.32435910G>T | CA510467071 | ASXL1 | c.3198G>T (p.Val1066=) c.3015G>T (p.Val1005=) n.5551G>T c.1869+1329G>T (n.1869+1329G>T) c.3183G>T (p.Val1061=) c.3195G>T (p.Val1065=) c.3168G>T (p.Val1056=) c.3114G>T (p.Val1038=) c.2514G>T (p.Val838=) c.3462G>T (p.Val1154=) c.3459G>T (p.Val1153=) c.3378G>T (p.Val1126=) c.3309G>T (p.Val1103=) c.3177G>T (p.Val1059=) c.3045G>T (p.Val1015=) | |
20 | g.32435911T>A | CA408562563 | ASXL1 | c.3199T>A (p.Ser1067Thr) c.3016T>A (p.Ser1006Thr) n.5552T>A c.1869+1330T>A (n.1869+1330T>A) c.3184T>A (p.Ser1062Thr) c.3196T>A (p.Ser1066Thr) c.3169T>A (p.Ser1057Thr) c.3115T>A (p.Ser1039Thr) c.2515T>A (p.Ser839Thr) c.3463T>A (p.Ser1155Thr) c.3460T>A (p.Ser1154Thr) c.3379T>A (p.Ser1127Thr) c.3310T>A (p.Ser1104Thr) c.3178T>A (p.Ser1060Thr) c.3046T>A (p.Ser1016Thr) | dbSNP |
20 | g.32435911T>C | CA408562564 | ASXL1 | c.3199T>C (p.Ser1067Pro) c.3016T>C (p.Ser1006Pro) n.5552T>C c.1869+1330T>C (n.1869+1330T>C) c.3184T>C (p.Ser1062Pro) c.3196T>C (p.Ser1066Pro) c.3169T>C (p.Ser1057Pro) c.3115T>C (p.Ser1039Pro) c.2515T>C (p.Ser839Pro) c.3463T>C (p.Ser1155Pro) c.3460T>C (p.Ser1154Pro) c.3379T>C (p.Ser1127Pro) c.3310T>C (p.Ser1104Pro) c.3178T>C (p.Ser1060Pro) c.3046T>C (p.Ser1016Pro) | |
20 | g.32435911T>G | CA408562565 | ASXL1 | c.3199T>G (p.Ser1067Ala) c.3016T>G (p.Ser1006Ala) n.5552T>G c.1869+1330T>G (n.1869+1330T>G) c.3184T>G (p.Ser1062Ala) c.3196T>G (p.Ser1066Ala) c.3169T>G (p.Ser1057Ala) c.3115T>G (p.Ser1039Ala) c.2515T>G (p.Ser839Ala) c.3463T>G (p.Ser1155Ala) c.3460T>G (p.Ser1154Ala) c.3379T>G (p.Ser1127Ala) c.3310T>G (p.Ser1104Ala) c.3178T>G (p.Ser1060Ala) c.3046T>G (p.Ser1016Ala) | |
20 | g.32435911T= | CA2360293451 | ASXL1 | c.3199T= (p.Ser1067=) c.3016T= (p.Ser1006=) n.5552T= c.1869+1330T= (n.1869+1330T=) c.3184T= (p.Ser1062=) c.3196T= (p.Ser1066=) c.3169T= (p.Ser1057=) c.3115T= (p.Ser1039=) c.2515T= (p.Ser839=) c.3463T= (p.Ser1155=) c.3460T= (p.Ser1154=) c.3379T= (p.Ser1127=) c.3310T= (p.Ser1104=) c.3178T= (p.Ser1060=) c.3046T= (p.Ser1016=) | |
20 | g.32435913_32435914del | CA2577366264 | ASXL1 | c.3201_3202del (p.Arg1068SerfsTer18) c.3018_3019del (p.Arg1007SerfsTer18) n.5554_5555del c.1869+1332_1869+1333del (n.1869+1332_1869+1333del) c.3186_3187del (p.Arg1063SerfsTer18) c.3198_3199del (p.Arg1067SerfsTer18) c.3171_3172del (p.Arg1058SerfsTer18) c.3117_3118del (p.Arg1040SerfsTer18) c.2517_2518del (p.Arg840SerfsTer18) c.3465_3466del (p.Arg1156SerfsTer18) c.3462_3463del (p.Arg1155SerfsTer18) c.3381_3382del (p.Arg1128SerfsTer18) c.3312_3313del (p.Arg1105SerfsTer18) c.3180_3181del (p.Arg1061SerfsTer18) c.3048_3049del (p.Arg1017SerfsTer18) | |
20 | g.32435912C>A | CA408562566 | ASXL1 | c.3200C>A (p.Ser1067Tyr) c.3017C>A (p.Ser1006Tyr) n.5553C>A c.1869+1331C>A (n.1869+1331C>A) c.3185C>A (p.Ser1062Tyr) c.3197C>A (p.Ser1066Tyr) c.3170C>A (p.Ser1057Tyr) c.3116C>A (p.Ser1039Tyr) c.2516C>A (p.Ser839Tyr) c.3464C>A (p.Ser1155Tyr) c.3461C>A (p.Ser1154Tyr) c.3380C>A (p.Ser1127Tyr) c.3311C>A (p.Ser1104Tyr) c.3179C>A (p.Ser1060Tyr) c.3047C>A (p.Ser1016Tyr) | |
20 | g.32435912C= | CA2360293452 | ASXL1 | c.3200C= (p.Ser1067=) c.3017C= (p.Ser1006=) n.5553C= c.1869+1331C= (n.1869+1331C=) c.3185C= (p.Ser1062=) c.3197C= (p.Ser1066=) c.3170C= (p.Ser1057=) c.3116C= (p.Ser1039=) c.2516C= (p.Ser839=) c.3464C= (p.Ser1155=) c.3461C= (p.Ser1154=) c.3380C= (p.Ser1127=) c.3311C= (p.Ser1104=) c.3179C= (p.Ser1060=) c.3047C= (p.Ser1016=) | |
20 | g.32435912C>G | CA408562567 | ASXL1 | c.3200C>G (p.Ser1067Cys) c.3017C>G (p.Ser1006Cys) n.5553C>G c.1869+1331C>G (n.1869+1331C>G) c.3185C>G (p.Ser1062Cys) c.3197C>G (p.Ser1066Cys) c.3170C>G (p.Ser1057Cys) c.3116C>G (p.Ser1039Cys) c.2516C>G (p.Ser839Cys) c.3464C>G (p.Ser1155Cys) c.3461C>G (p.Ser1154Cys) c.3380C>G (p.Ser1127Cys) c.3311C>G (p.Ser1104Cys) c.3179C>G (p.Ser1060Cys) c.3047C>G (p.Ser1016Cys) | dbSNP |
20 | g.32435912C>T | CA9808773 | ASXL1 | c.3200C>T (p.Ser1067Phe) c.3017C>T (p.Ser1006Phe) n.5553C>T c.1869+1331C>T (n.1869+1331C>T) c.3185C>T (p.Ser1062Phe) c.3197C>T (p.Ser1066Phe) c.3170C>T (p.Ser1057Phe) c.3116C>T (p.Ser1039Phe) c.2516C>T (p.Ser839Phe) c.3464C>T (p.Ser1155Phe) c.3461C>T (p.Ser1154Phe) c.3380C>T (p.Ser1127Phe) c.3311C>T (p.Ser1104Phe) c.3179C>T (p.Ser1060Phe) c.3047C>T (p.Ser1016Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32435913T>A | CA510467079 | ASXL1 | c.3201T>A (p.Ser1067=) c.3018T>A (p.Ser1006=) n.5554T>A c.1869+1332T>A (n.1869+1332T>A) c.3186T>A (p.Ser1062=) c.3198T>A (p.Ser1066=) c.3171T>A (p.Ser1057=) c.3117T>A (p.Ser1039=) c.2517T>A (p.Ser839=) c.3465T>A (p.Ser1155=) c.3462T>A (p.Ser1154=) c.3381T>A (p.Ser1127=) c.3312T>A (p.Ser1104=) c.3180T>A (p.Ser1060=) c.3048T>A (p.Ser1016=) | |
20 | g.32435913T>C | CA510467081 | ASXL1 | c.3201T>C (p.Ser1067=) c.3018T>C (p.Ser1006=) n.5554T>C c.1869+1332T>C (n.1869+1332T>C) c.3186T>C (p.Ser1062=) c.3198T>C (p.Ser1066=) c.3171T>C (p.Ser1057=) c.3117T>C (p.Ser1039=) c.2517T>C (p.Ser839=) c.3465T>C (p.Ser1155=) c.3462T>C (p.Ser1154=) c.3381T>C (p.Ser1127=) c.3312T>C (p.Ser1104=) c.3180T>C (p.Ser1060=) c.3048T>C (p.Ser1016=) | |
20 | g.32435913T>G | CA510467083 | ASXL1 | c.3201T>G (p.Ser1067=) c.3018T>G (p.Ser1006=) n.5554T>G c.1869+1332T>G (n.1869+1332T>G) c.3186T>G (p.Ser1062=) c.3198T>G (p.Ser1066=) c.3171T>G (p.Ser1057=) c.3117T>G (p.Ser1039=) c.2517T>G (p.Ser839=) c.3465T>G (p.Ser1155=) c.3462T>G (p.Ser1154=) c.3381T>G (p.Ser1127=) c.3312T>G (p.Ser1104=) c.3180T>G (p.Ser1060=) c.3048T>G (p.Ser1016=) | |
20 | g.32435914C>A | CA510467085 | ASXL1 | c.3202C>A (p.Arg1068=) c.3019C>A (p.Arg1007=) n.5555C>A c.1869+1333C>A (n.1869+1333C>A) c.3187C>A (p.Arg1063=) c.3199C>A (p.Arg1067=) c.3172C>A (p.Arg1058=) c.3118C>A (p.Arg1040=) c.2518C>A (p.Arg840=) c.3466C>A (p.Arg1156=) c.3463C>A (p.Arg1155=) c.3382C>A (p.Arg1128=) c.3313C>A (p.Arg1105=) c.3181C>A (p.Arg1061=) c.3049C>A (p.Arg1017=) | dbSNP |
20 | g.32435914C= | CA2360293453 | ASXL1 | c.3202C= (p.Arg1068=) c.3019C= (p.Arg1007=) n.5555C= c.1869+1333C= (n.1869+1333C=) c.3187C= (p.Arg1063=) c.3199C= (p.Arg1067=) c.3172C= (p.Arg1058=) c.3118C= (p.Arg1040=) c.2518C= (p.Arg840=) c.3466C= (p.Arg1156=) c.3463C= (p.Arg1155=) c.3382C= (p.Arg1128=) c.3313C= (p.Arg1105=) c.3181C= (p.Arg1061=) c.3049C= (p.Arg1017=) | |
20 | g.32435914C>G | CA408562568 | ASXL1 | c.3202C>G (p.Arg1068Gly) c.3019C>G (p.Arg1007Gly) n.5555C>G c.1869+1333C>G (n.1869+1333C>G) c.3187C>G (p.Arg1063Gly) c.3199C>G (p.Arg1067Gly) c.3172C>G (p.Arg1058Gly) c.3118C>G (p.Arg1040Gly) c.2518C>G (p.Arg840Gly) c.3466C>G (p.Arg1156Gly) c.3463C>G (p.Arg1155Gly) c.3382C>G (p.Arg1128Gly) c.3313C>G (p.Arg1105Gly) c.3181C>G (p.Arg1061Gly) c.3049C>G (p.Arg1017Gly) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32435914C>T | CA9808774 | ASXL1 | c.3202C>T (p.Arg1068Ter) c.3019C>T (p.Arg1007Ter) n.5555C>T c.1869+1333C>T (n.1869+1333C>T) c.3187C>T (p.Arg1063Ter) c.3199C>T (p.Arg1067Ter) c.3172C>T (p.Arg1058Ter) c.3118C>T (p.Arg1040Ter) c.2518C>T (p.Arg840Ter) c.3466C>T (p.Arg1156Ter) c.3463C>T (p.Arg1155Ter) c.3382C>T (p.Arg1128Ter) c.3313C>T (p.Arg1105Ter) c.3181C>T (p.Arg1061Ter) c.3049C>T (p.Arg1017Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
20 | g.32435915G>A | CA9808775 | ASXL1 | c.3203G>A (p.Arg1068Gln) c.3020G>A (p.Arg1007Gln) n.5556G>A c.1869+1334G>A (n.1869+1334G>A) c.3188G>A (p.Arg1063Gln) c.3200G>A (p.Arg1067Gln) c.3173G>A (p.Arg1058Gln) c.3119G>A (p.Arg1040Gln) c.2519G>A (p.Arg840Gln) c.3467G>A (p.Arg1156Gln) c.3464G>A (p.Arg1155Gln) c.3383G>A (p.Arg1128Gln) c.3314G>A (p.Arg1105Gln) c.3182G>A (p.Arg1061Gln) c.3050G>A (p.Arg1017Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32435915G>C | CA408562569 | ASXL1 | c.3203G>C (p.Arg1068Pro) c.3020G>C (p.Arg1007Pro) n.5556G>C c.1869+1334G>C (n.1869+1334G>C) c.3188G>C (p.Arg1063Pro) c.3200G>C (p.Arg1067Pro) c.3173G>C (p.Arg1058Pro) c.3119G>C (p.Arg1040Pro) c.2519G>C (p.Arg840Pro) c.3467G>C (p.Arg1156Pro) c.3464G>C (p.Arg1155Pro) c.3383G>C (p.Arg1128Pro) c.3314G>C (p.Arg1105Pro) c.3182G>C (p.Arg1061Pro) c.3050G>C (p.Arg1017Pro) | |
20 | g.32435915G= | CA2360293454 | ASXL1 | c.3203G= (p.Arg1068=) c.3020G= (p.Arg1007=) n.5556G= c.1869+1334G= (n.1869+1334G=) c.3188G= (p.Arg1063=) c.3200G= (p.Arg1067=) c.3173G= (p.Arg1058=) c.3119G= (p.Arg1040=) c.2519G= (p.Arg840=) c.3467G= (p.Arg1156=) c.3464G= (p.Arg1155=) c.3383G= (p.Arg1128=) c.3314G= (p.Arg1105=) c.3182G= (p.Arg1061=) c.3050G= (p.Arg1017=) | |
20 | g.32435915G>T | CA408562570 | ASXL1 | c.3203G>T (p.Arg1068Leu) c.3020G>T (p.Arg1007Leu) n.5556G>T c.1869+1334G>T (n.1869+1334G>T) c.3188G>T (p.Arg1063Leu) c.3200G>T (p.Arg1067Leu) c.3173G>T (p.Arg1058Leu) c.3119G>T (p.Arg1040Leu) c.2519G>T (p.Arg840Leu) c.3467G>T (p.Arg1156Leu) c.3464G>T (p.Arg1155Leu) c.3383G>T (p.Arg1128Leu) c.3314G>T (p.Arg1105Leu) c.3182G>T (p.Arg1061Leu) c.3050G>T (p.Arg1017Leu) | |
20 | g.32435916A>C | CA510467090 | ASXL1 | c.3204A>C (p.Arg1068=) c.3021A>C (p.Arg1007=) n.5557A>C c.1869+1335A>C (n.1869+1335A>C) c.3189A>C (p.Arg1063=) c.3201A>C (p.Arg1067=) c.3174A>C (p.Arg1058=) c.3120A>C (p.Arg1040=) c.2520A>C (p.Arg840=) c.3468A>C (p.Arg1156=) c.3465A>C (p.Arg1155=) c.3384A>C (p.Arg1128=) c.3315A>C (p.Arg1105=) c.3183A>C (p.Arg1061=) c.3051A>C (p.Arg1017=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32435916A>G | CA510467091 | ASXL1 | c.3204A>G (p.Arg1068=) c.3021A>G (p.Arg1007=) n.5557A>G c.1869+1335A>G (n.1869+1335A>G) c.3189A>G (p.Arg1063=) c.3201A>G (p.Arg1067=) c.3174A>G (p.Arg1058=) c.3120A>G (p.Arg1040=) c.2520A>G (p.Arg840=) c.3468A>G (p.Arg1156=) c.3465A>G (p.Arg1155=) c.3384A>G (p.Arg1128=) c.3315A>G (p.Arg1105=) c.3183A>G (p.Arg1061=) c.3051A>G (p.Arg1017=) | |
20 | g.32435916A>T | CA510467092 | ASXL1 | c.3204A>T (p.Arg1068=) c.3021A>T (p.Arg1007=) n.5557A>T c.1869+1335A>T (n.1869+1335A>T) c.3189A>T (p.Arg1063=) c.3201A>T (p.Arg1067=) c.3174A>T (p.Arg1058=) c.3120A>T (p.Arg1040=) c.2520A>T (p.Arg840=) c.3468A>T (p.Arg1156=) c.3465A>T (p.Arg1155=) c.3384A>T (p.Arg1128=) c.3315A>T (p.Arg1105=) c.3183A>T (p.Arg1061=) c.3051A>T (p.Arg1017=) | |
20 | g.32435917G>A | CA9808776 | ASXL1 | c.3205G>A (p.Val1069Ile) c.3022G>A (p.Val1008Ile) n.5558G>A c.1869+1336G>A (n.1869+1336G>A) c.3190G>A (p.Val1064Ile) c.3202G>A (p.Val1068Ile) c.3175G>A (p.Val1059Ile) c.3121G>A (p.Val1041Ile) c.2521G>A (p.Val841Ile) c.3469G>A (p.Val1157Ile) c.3466G>A (p.Val1156Ile) c.3385G>A (p.Val1129Ile) c.3316G>A (p.Val1106Ile) c.3184G>A (p.Val1062Ile) c.3052G>A (p.Val1018Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32435917G>C | CA408562572 | ASXL1 | c.3205G>C (p.Val1069Leu) c.3022G>C (p.Val1008Leu) n.5558G>C c.1869+1336G>C (n.1869+1336G>C) c.3190G>C (p.Val1064Leu) c.3202G>C (p.Val1068Leu) c.3175G>C (p.Val1059Leu) c.3121G>C (p.Val1041Leu) c.2521G>C (p.Val841Leu) c.3469G>C (p.Val1157Leu) c.3466G>C (p.Val1156Leu) c.3385G>C (p.Val1129Leu) c.3316G>C (p.Val1106Leu) c.3184G>C (p.Val1062Leu) c.3052G>C (p.Val1018Leu) | |
20 | g.32435917G= | CA2360293455 | ASXL1 | c.3205G= (p.Val1069=) c.3022G= (p.Val1008=) n.5558G= c.1869+1336G= (n.1869+1336G=) c.3190G= (p.Val1064=) c.3202G= (p.Val1068=) c.3175G= (p.Val1059=) c.3121G= (p.Val1041=) c.2521G= (p.Val841=) c.3469G= (p.Val1157=) c.3466G= (p.Val1156=) c.3385G= (p.Val1129=) c.3316G= (p.Val1106=) c.3184G= (p.Val1062=) c.3052G= (p.Val1018=) | |
20 | g.32435917G>T | CA408562571 | ASXL1 | c.3205G>T (p.Val1069Leu) c.3022G>T (p.Val1008Leu) n.5558G>T c.1869+1336G>T (n.1869+1336G>T) c.3190G>T (p.Val1064Leu) c.3202G>T (p.Val1068Leu) c.3175G>T (p.Val1059Leu) c.3121G>T (p.Val1041Leu) c.2521G>T (p.Val841Leu) c.3469G>T (p.Val1157Leu) c.3466G>T (p.Val1156Leu) c.3385G>T (p.Val1129Leu) c.3316G>T (p.Val1106Leu) c.3184G>T (p.Val1062Leu) c.3052G>T (p.Val1018Leu) | ClinVar |
20 | g.32435918T>A | CA408562573 | ASXL1 | c.3206T>A (p.Val1069Glu) c.3023T>A (p.Val1008Glu) n.5559T>A c.1869+1337T>A (n.1869+1337T>A) c.3191T>A (p.Val1064Glu) c.3203T>A (p.Val1068Glu) c.3176T>A (p.Val1059Glu) c.3122T>A (p.Val1041Glu) c.2522T>A (p.Val841Glu) c.3470T>A (p.Val1157Glu) c.3467T>A (p.Val1156Glu) c.3386T>A (p.Val1129Glu) c.3317T>A (p.Val1106Glu) c.3185T>A (p.Val1062Glu) c.3053T>A (p.Val1018Glu) | |
20 | g.32435918T>C | CA408562574 | ASXL1 | c.3206T>C (p.Val1069Ala) c.3023T>C (p.Val1008Ala) n.5559T>C c.1869+1337T>C (n.1869+1337T>C) c.3191T>C (p.Val1064Ala) c.3203T>C (p.Val1068Ala) c.3176T>C (p.Val1059Ala) c.3122T>C (p.Val1041Ala) c.2522T>C (p.Val841Ala) c.3470T>C (p.Val1157Ala) c.3467T>C (p.Val1156Ala) c.3386T>C (p.Val1129Ala) c.3317T>C (p.Val1106Ala) c.3185T>C (p.Val1062Ala) c.3053T>C (p.Val1018Ala) | |
20 | g.32435918T>G | CA408562575 | ASXL1 | c.3206T>G (p.Val1069Gly) c.3023T>G (p.Val1008Gly) n.5559T>G c.1869+1337T>G (n.1869+1337T>G) c.3191T>G (p.Val1064Gly) c.3203T>G (p.Val1068Gly) c.3176T>G (p.Val1059Gly) c.3122T>G (p.Val1041Gly) c.2522T>G (p.Val841Gly) c.3470T>G (p.Val1157Gly) c.3467T>G (p.Val1156Gly) c.3386T>G (p.Val1129Gly) c.3317T>G (p.Val1106Gly) c.3185T>G (p.Val1062Gly) c.3053T>G (p.Val1018Gly) | gnomAD v4 |
20 | g.32435919_32435920del | CA635268554 | ASXL1 | c.3207_3208del (p.Ala1071GlyfsTer15) c.3024_3025del (p.Ala1010GlyfsTer15) n.5560_5561del c.1869+1338_1869+1339del (n.1869+1338_1869+1339del) c.3192_3193del (p.Ala1066GlyfsTer15) c.3204_3205del (p.Ala1070GlyfsTer15) c.3177_3178del (p.Ala1061GlyfsTer15) c.3123_3124del (p.Ala1043GlyfsTer15) c.2523_2524del (p.Ala843GlyfsTer15) c.3471_3472del (p.Ala1159GlyfsTer15) c.3468_3469del (p.Ala1158GlyfsTer15) c.3387_3388del (p.Ala1131GlyfsTer15) c.3318_3319del (p.Ala1108GlyfsTer15) c.3186_3187del (p.Ala1064GlyfsTer15) c.3054_3055del (p.Ala1020GlyfsTer15) | gnomAD v2 gnomAD v4 |
20 | g.32435919A= | CA2360293456 | ASXL1 | c.3207A= (p.Val1069=) c.3024A= (p.Val1008=) n.5560A= c.1869+1338A= (n.1869+1338A=) c.3192A= (p.Val1064=) c.3204A= (p.Val1068=) c.3177A= (p.Val1059=) c.3123A= (p.Val1041=) c.2523A= (p.Val841=) c.3471A= (p.Val1157=) c.3468A= (p.Val1156=) c.3387A= (p.Val1129=) c.3318A= (p.Val1106=) c.3186A= (p.Val1062=) c.3054A= (p.Val1018=) | |
20 | g.32435919A>C | CA510467097 | ASXL1 | c.3207A>C (p.Val1069=) c.3024A>C (p.Val1008=) n.5560A>C c.1869+1338A>C (n.1869+1338A>C) c.3192A>C (p.Val1064=) c.3204A>C (p.Val1068=) c.3177A>C (p.Val1059=) c.3123A>C (p.Val1041=) c.2523A>C (p.Val841=) c.3471A>C (p.Val1157=) c.3468A>C (p.Val1156=) c.3387A>C (p.Val1129=) c.3318A>C (p.Val1106=) c.3186A>C (p.Val1062=) c.3054A>C (p.Val1018=) | |
20 | g.32435919A>G | CA510467098 | ASXL1 | c.3207A>G (p.Val1069=) c.3024A>G (p.Val1008=) n.5560A>G c.1869+1338A>G (n.1869+1338A>G) c.3192A>G (p.Val1064=) c.3204A>G (p.Val1068=) c.3177A>G (p.Val1059=) c.3123A>G (p.Val1041=) c.2523A>G (p.Val841=) c.3471A>G (p.Val1157=) c.3468A>G (p.Val1156=) c.3387A>G (p.Val1129=) c.3318A>G (p.Val1106=) c.3186A>G (p.Val1062=) c.3054A>G (p.Val1018=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32435919A>T | CA510467099 | ASXL1 | c.3207A>T (p.Val1069=) c.3024A>T (p.Val1008=) n.5560A>T c.1869+1338A>T (n.1869+1338A>T) c.3192A>T (p.Val1064=) c.3204A>T (p.Val1068=) c.3177A>T (p.Val1059=) c.3123A>T (p.Val1041=) c.2523A>T (p.Val841=) c.3471A>T (p.Val1157=) c.3468A>T (p.Val1156=) c.3387A>T (p.Val1129=) c.3318A>T (p.Val1106=) c.3186A>T (p.Val1062=) c.3054A>T (p.Val1018=) | |
20 | g.32435920T>A | CA408562576 | ASXL1 | c.3208T>A (p.Cys1070Ser) c.3025T>A (p.Cys1009Ser) n.5561T>A c.1869+1339T>A (n.1869+1339T>A) c.3193T>A (p.Cys1065Ser) c.3205T>A (p.Cys1069Ser) c.3178T>A (p.Cys1060Ser) c.3124T>A (p.Cys1042Ser) c.2524T>A (p.Cys842Ser) c.3472T>A (p.Cys1158Ser) c.3469T>A (p.Cys1157Ser) c.3388T>A (p.Cys1130Ser) c.3319T>A (p.Cys1107Ser) c.3187T>A (p.Cys1063Ser) c.3055T>A (p.Cys1019Ser) | dbSNP |
20 | g.32435920T>C | CA408562577 | ASXL1 | c.3208T>C (p.Cys1070Arg) c.3025T>C (p.Cys1009Arg) n.5561T>C c.1869+1339T>C (n.1869+1339T>C) c.3193T>C (p.Cys1065Arg) c.3205T>C (p.Cys1069Arg) c.3178T>C (p.Cys1060Arg) c.3124T>C (p.Cys1042Arg) c.2524T>C (p.Cys842Arg) c.3472T>C (p.Cys1158Arg) c.3469T>C (p.Cys1157Arg) c.3388T>C (p.Cys1130Arg) c.3319T>C (p.Cys1107Arg) c.3187T>C (p.Cys1063Arg) c.3055T>C (p.Cys1019Arg) | |
20 | g.32435920T>G | CA408562578 | ASXL1 | c.3208T>G (p.Cys1070Gly) c.3025T>G (p.Cys1009Gly) n.5561T>G c.1869+1339T>G (n.1869+1339T>G) c.3193T>G (p.Cys1065Gly) c.3205T>G (p.Cys1069Gly) c.3178T>G (p.Cys1060Gly) c.3124T>G (p.Cys1042Gly) c.2524T>G (p.Cys842Gly) c.3472T>G (p.Cys1158Gly) c.3469T>G (p.Cys1157Gly) c.3388T>G (p.Cys1130Gly) c.3319T>G (p.Cys1107Gly) c.3187T>G (p.Cys1063Gly) c.3055T>G (p.Cys1019Gly) | |
20 | g.32435921G>A | CA408562579 | ASXL1 | c.3209G>A (p.Cys1070Tyr) c.3026G>A (p.Cys1009Tyr) n.5562G>A c.1869+1340G>A (n.1869+1340G>A) c.3194G>A (p.Cys1065Tyr) c.3206G>A (p.Cys1069Tyr) c.3179G>A (p.Cys1060Tyr) c.3125G>A (p.Cys1042Tyr) c.2525G>A (p.Cys842Tyr) c.3473G>A (p.Cys1158Tyr) c.3470G>A (p.Cys1157Tyr) c.3389G>A (p.Cys1130Tyr) c.3320G>A (p.Cys1107Tyr) c.3188G>A (p.Cys1063Tyr) c.3056G>A (p.Cys1019Tyr) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32435921G>C | CA408562581 | ASXL1 | c.3209G>C (p.Cys1070Ser) c.3026G>C (p.Cys1009Ser) n.5562G>C c.1869+1340G>C (n.1869+1340G>C) c.3194G>C (p.Cys1065Ser) c.3206G>C (p.Cys1069Ser) c.3179G>C (p.Cys1060Ser) c.3125G>C (p.Cys1042Ser) c.2525G>C (p.Cys842Ser) c.3473G>C (p.Cys1158Ser) c.3470G>C (p.Cys1157Ser) c.3389G>C (p.Cys1130Ser) c.3320G>C (p.Cys1107Ser) c.3188G>C (p.Cys1063Ser) c.3056G>C (p.Cys1019Ser) | |
20 | g.32435921G= | CA2360293457 | ASXL1 | c.3209G= (p.Cys1070=) c.3026G= (p.Cys1009=) n.5562G= c.1869+1340G= (n.1869+1340G=) c.3194G= (p.Cys1065=) c.3206G= (p.Cys1069=) c.3179G= (p.Cys1060=) c.3125G= (p.Cys1042=) c.2525G= (p.Cys842=) c.3473G= (p.Cys1158=) c.3470G= (p.Cys1157=) c.3389G= (p.Cys1130=) c.3320G= (p.Cys1107=) c.3188G= (p.Cys1063=) c.3056G= (p.Cys1019=) | |
20 | g.32435921G>T | CA408562580 | ASXL1 | c.3209G>T (p.Cys1070Phe) c.3026G>T (p.Cys1009Phe) n.5562G>T c.1869+1340G>T (n.1869+1340G>T) c.3194G>T (p.Cys1065Phe) c.3206G>T (p.Cys1069Phe) c.3179G>T (p.Cys1060Phe) c.3125G>T (p.Cys1042Phe) c.2525G>T (p.Cys842Phe) c.3473G>T (p.Cys1158Phe) c.3470G>T (p.Cys1157Phe) c.3389G>T (p.Cys1130Phe) c.3320G>T (p.Cys1107Phe) c.3188G>T (p.Cys1063Phe) c.3056G>T (p.Cys1019Phe) | |
20 | g.32435922T>A | CA408562582 | ASXL1 | c.3210T>A (p.Cys1070Ter) c.3027T>A (p.Cys1009Ter) n.5563T>A c.1869+1341T>A (n.1869+1341T>A) c.3195T>A (p.Cys1065Ter) c.3207T>A (p.Cys1069Ter) c.3180T>A (p.Cys1060Ter) c.3126T>A (p.Cys1042Ter) c.2526T>A (p.Cys842Ter) c.3474T>A (p.Cys1158Ter) c.3471T>A (p.Cys1157Ter) c.3390T>A (p.Cys1130Ter) c.3321T>A (p.Cys1107Ter) c.3189T>A (p.Cys1063Ter) c.3057T>A (p.Cys1019Ter) | |
20 | g.32435922T>C | CA510467103 | ASXL1 | c.3210T>C (p.Cys1070=) c.3027T>C (p.Cys1009=) n.5563T>C c.1869+1341T>C (n.1869+1341T>C) c.3195T>C (p.Cys1065=) c.3207T>C (p.Cys1069=) c.3180T>C (p.Cys1060=) c.3126T>C (p.Cys1042=) c.2526T>C (p.Cys842=) c.3474T>C (p.Cys1158=) c.3471T>C (p.Cys1157=) c.3390T>C (p.Cys1130=) c.3321T>C (p.Cys1107=) c.3189T>C (p.Cys1063=) c.3057T>C (p.Cys1019=) | gnomAD v4 |
20 | g.32435922T>G | CA408562583 | ASXL1 | c.3210T>G (p.Cys1070Trp) c.3027T>G (p.Cys1009Trp) n.5563T>G c.1869+1341T>G (n.1869+1341T>G) c.3195T>G (p.Cys1065Trp) c.3207T>G (p.Cys1069Trp) c.3180T>G (p.Cys1060Trp) c.3126T>G (p.Cys1042Trp) c.2526T>G (p.Cys842Trp) c.3474T>G (p.Cys1158Trp) c.3471T>G (p.Cys1157Trp) c.3390T>G (p.Cys1130Trp) c.3321T>G (p.Cys1107Trp) c.3189T>G (p.Cys1063Trp) c.3057T>G (p.Cys1019Trp) | |
20 | g.32435923G>A | CA9808777 | ASXL1 | c.3211G>A (p.Ala1071Thr) c.3028G>A (p.Ala1010Thr) n.5564G>A c.1869+1342G>A (n.1869+1342G>A) c.3196G>A (p.Ala1066Thr) c.3208G>A (p.Ala1070Thr) c.3181G>A (p.Ala1061Thr) c.3127G>A (p.Ala1043Thr) c.2527G>A (p.Ala843Thr) c.3475G>A (p.Ala1159Thr) c.3472G>A (p.Ala1158Thr) c.3391G>A (p.Ala1131Thr) c.3322G>A (p.Ala1108Thr) c.3190G>A (p.Ala1064Thr) c.3058G>A (p.Ala1020Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.32435923G>C | CA408562584 | ASXL1 | c.3211G>C (p.Ala1071Pro) c.3028G>C (p.Ala1010Pro) n.5564G>C c.1869+1342G>C (n.1869+1342G>C) c.3196G>C (p.Ala1066Pro) c.3208G>C (p.Ala1070Pro) c.3181G>C (p.Ala1061Pro) c.3127G>C (p.Ala1043Pro) c.2527G>C (p.Ala843Pro) c.3475G>C (p.Ala1159Pro) c.3472G>C (p.Ala1158Pro) c.3391G>C (p.Ala1131Pro) c.3322G>C (p.Ala1108Pro) c.3190G>C (p.Ala1064Pro) c.3058G>C (p.Ala1020Pro) | |
20 | g.32435923G= | CA2360293458 | ASXL1 | c.3211G= (p.Ala1071=) c.3028G= (p.Ala1010=) n.5564G= c.1869+1342G= (n.1869+1342G=) c.3196G= (p.Ala1066=) c.3208G= (p.Ala1070=) c.3181G= (p.Ala1061=) c.3127G= (p.Ala1043=) c.2527G= (p.Ala843=) c.3475G= (p.Ala1159=) c.3472G= (p.Ala1158=) c.3391G= (p.Ala1131=) c.3322G= (p.Ala1108=) c.3190G= (p.Ala1064=) c.3058G= (p.Ala1020=) | |
20 | g.32435923G>T | CA408562585 | ASXL1 | c.3211G>T (p.Ala1071Ser) c.3028G>T (p.Ala1010Ser) n.5564G>T c.1869+1342G>T (n.1869+1342G>T) c.3196G>T (p.Ala1066Ser) c.3208G>T (p.Ala1070Ser) c.3181G>T (p.Ala1061Ser) c.3127G>T (p.Ala1043Ser) c.2527G>T (p.Ala843Ser) c.3475G>T (p.Ala1159Ser) c.3472G>T (p.Ala1158Ser) c.3391G>T (p.Ala1131Ser) c.3322G>T (p.Ala1108Ser) c.3190G>T (p.Ala1064Ser) c.3058G>T (p.Ala1020Ser) | |
20 | g.32435924C>A | CA408562586 | ASXL1 | c.3212C>A (p.Ala1071Glu) c.3029C>A (p.Ala1010Glu) n.5565C>A c.1869+1343C>A (n.1869+1343C>A) c.3197C>A (p.Ala1066Glu) c.3209C>A (p.Ala1070Glu) c.3182C>A (p.Ala1061Glu) c.3128C>A (p.Ala1043Glu) c.2528C>A (p.Ala843Glu) c.3476C>A (p.Ala1159Glu) c.3473C>A (p.Ala1158Glu) c.3392C>A (p.Ala1131Glu) c.3323C>A (p.Ala1108Glu) c.3191C>A (p.Ala1064Glu) c.3059C>A (p.Ala1020Glu) | |
20 | g.32435924C= | CA2360293459 | ASXL1 | c.3212C= (p.Ala1071=) c.3029C= (p.Ala1010=) n.5565C= c.1869+1343C= (n.1869+1343C=) c.3197C= (p.Ala1066=) c.3209C= (p.Ala1070=) c.3182C= (p.Ala1061=) c.3128C= (p.Ala1043=) c.2528C= (p.Ala843=) c.3476C= (p.Ala1159=) c.3473C= (p.Ala1158=) c.3392C= (p.Ala1131=) c.3323C= (p.Ala1108=) c.3191C= (p.Ala1064=) c.3059C= (p.Ala1020=) | |
20 | g.32435924C>G | CA408562587 | ASXL1 | c.3212C>G (p.Ala1071Gly) c.3029C>G (p.Ala1010Gly) n.5565C>G c.1869+1343C>G (n.1869+1343C>G) c.3197C>G (p.Ala1066Gly) c.3209C>G (p.Ala1070Gly) c.3182C>G (p.Ala1061Gly) c.3128C>G (p.Ala1043Gly) c.2528C>G (p.Ala843Gly) c.3476C>G (p.Ala1159Gly) c.3473C>G (p.Ala1158Gly) c.3392C>G (p.Ala1131Gly) c.3323C>G (p.Ala1108Gly) c.3191C>G (p.Ala1064Gly) c.3059C>G (p.Ala1020Gly) | |
20 | g.32435924C>T | CA9808778 | ASXL1 | c.3212C>T (p.Ala1071Val) c.3029C>T (p.Ala1010Val) n.5565C>T c.1869+1343C>T (n.1869+1343C>T) c.3197C>T (p.Ala1066Val) c.3209C>T (p.Ala1070Val) c.3182C>T (p.Ala1061Val) c.3128C>T (p.Ala1043Val) c.2528C>T (p.Ala843Val) c.3476C>T (p.Ala1159Val) c.3473C>T (p.Ala1158Val) c.3392C>T (p.Ala1131Val) c.3323C>T (p.Ala1108Val) c.3191C>T (p.Ala1064Val) c.3059C>T (p.Ala1020Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32435925G>A | CA9808779 | ASXL1 | c.3213G>A (p.Ala1071=) c.3030G>A (p.Ala1010=) n.5566G>A c.1869+1344G>A (n.1869+1344G>A) c.3198G>A (p.Ala1066=) c.3210G>A (p.Ala1070=) c.3183G>A (p.Ala1061=) c.3129G>A (p.Ala1043=) c.2529G>A (p.Ala843=) c.3477G>A (p.Ala1159=) c.3474G>A (p.Ala1158=) c.3393G>A (p.Ala1131=) c.3324G>A (p.Ala1108=) c.3192G>A (p.Ala1064=) c.3060G>A (p.Ala1020=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.32435925G>C | CA510467107 | ASXL1 | c.3213G>C (p.Ala1071=) c.3030G>C (p.Ala1010=) n.5566G>C c.1869+1344G>C (n.1869+1344G>C) c.3198G>C (p.Ala1066=) c.3210G>C (p.Ala1070=) c.3183G>C (p.Ala1061=) c.3129G>C (p.Ala1043=) c.2529G>C (p.Ala843=) c.3477G>C (p.Ala1159=) c.3474G>C (p.Ala1158=) c.3393G>C (p.Ala1131=) c.3324G>C (p.Ala1108=) c.3192G>C (p.Ala1064=) c.3060G>C (p.Ala1020=) | gnomAD v4 |
20 | g.32435925G= | CA2360293460 | ASXL1 | c.3213G= (p.Ala1071=) c.3030G= (p.Ala1010=) n.5566G= c.1869+1344G= (n.1869+1344G=) c.3198G= (p.Ala1066=) c.3210G= (p.Ala1070=) c.3183G= (p.Ala1061=) c.3129G= (p.Ala1043=) c.2529G= (p.Ala843=) c.3477G= (p.Ala1159=) c.3474G= (p.Ala1158=) c.3393G= (p.Ala1131=) c.3324G= (p.Ala1108=) c.3192G= (p.Ala1064=) c.3060G= (p.Ala1020=) | |
20 | g.32435925G>T | CA510467108 | ASXL1 | c.3213G>T (p.Ala1071=) c.3030G>T (p.Ala1010=) n.5566G>T c.1869+1344G>T (n.1869+1344G>T) c.3198G>T (p.Ala1066=) c.3210G>T (p.Ala1070=) c.3183G>T (p.Ala1061=) c.3129G>T (p.Ala1043=) c.2529G>T (p.Ala843=) c.3477G>T (p.Ala1159=) c.3474G>T (p.Ala1158=) c.3393G>T (p.Ala1131=) c.3324G>T (p.Ala1108=) c.3192G>T (p.Ala1064=) c.3060G>T (p.Ala1020=) | gnomAD v4 |
20 | g.32435926G>A | CA408562588 | ASXL1 | c.3214G>A (p.Val1072Ile) c.3031G>A (p.Val1011Ile) n.5567G>A c.1869+1345G>A (n.1869+1345G>A) c.3199G>A (p.Val1067Ile) c.3211G>A (p.Val1071Ile) c.3184G>A (p.Val1062Ile) c.3130G>A (p.Val1044Ile) c.2530G>A (p.Val844Ile) c.3478G>A (p.Val1160Ile) c.3475G>A (p.Val1159Ile) c.3394G>A (p.Val1132Ile) c.3325G>A (p.Val1109Ile) c.3193G>A (p.Val1065Ile) c.3061G>A (p.Val1021Ile) | gnomAD v4 COSMIC COSMIC |
20 | g.32435926G>C | CA408562589 | ASXL1 | c.3214G>C (p.Val1072Leu) c.3031G>C (p.Val1011Leu) n.5567G>C c.1869+1345G>C (n.1869+1345G>C) c.3199G>C (p.Val1067Leu) c.3211G>C (p.Val1071Leu) c.3184G>C (p.Val1062Leu) c.3130G>C (p.Val1044Leu) c.2530G>C (p.Val844Leu) c.3478G>C (p.Val1160Leu) c.3475G>C (p.Val1159Leu) c.3394G>C (p.Val1132Leu) c.3325G>C (p.Val1109Leu) c.3193G>C (p.Val1065Leu) c.3061G>C (p.Val1021Leu) | |
20 | g.32435926G>T | CA408562590 | ASXL1 | c.3214G>T (p.Val1072Phe) c.3031G>T (p.Val1011Phe) n.5567G>T c.1869+1345G>T (n.1869+1345G>T) c.3199G>T (p.Val1067Phe) c.3211G>T (p.Val1071Phe) c.3184G>T (p.Val1062Phe) c.3130G>T (p.Val1044Phe) c.2530G>T (p.Val844Phe) c.3478G>T (p.Val1160Phe) c.3475G>T (p.Val1159Phe) c.3394G>T (p.Val1132Phe) c.3325G>T (p.Val1109Phe) c.3193G>T (p.Val1065Phe) c.3061G>T (p.Val1021Phe) | |
20 | g.32435927T>A | CA9808780 | ASXL1 | c.3215T>A (p.Val1072Asp) c.3032T>A (p.Val1011Asp) n.5568T>A c.1869+1346T>A (n.1869+1346T>A) c.3200T>A (p.Val1067Asp) c.3212T>A (p.Val1071Asp) c.3185T>A (p.Val1062Asp) c.3131T>A (p.Val1044Asp) c.2531T>A (p.Val844Asp) c.3479T>A (p.Val1160Asp) c.3476T>A (p.Val1159Asp) c.3395T>A (p.Val1132Asp) c.3326T>A (p.Val1109Asp) c.3194T>A (p.Val1065Asp) c.3062T>A (p.Val1021Asp) | dbSNP ExAC |
20 | g.32435927T>C | CA408562592 | ASXL1 | c.3215T>C (p.Val1072Ala) c.3032T>C (p.Val1011Ala) n.5568T>C c.1869+1346T>C (n.1869+1346T>C) c.3200T>C (p.Val1067Ala) c.3212T>C (p.Val1071Ala) c.3185T>C (p.Val1062Ala) c.3131T>C (p.Val1044Ala) c.2531T>C (p.Val844Ala) c.3479T>C (p.Val1160Ala) c.3476T>C (p.Val1159Ala) c.3395T>C (p.Val1132Ala) c.3326T>C (p.Val1109Ala) c.3194T>C (p.Val1065Ala) c.3062T>C (p.Val1021Ala) | dbSNP |
20 | g.32435927T>G | CA408562591 | ASXL1 | c.3215T>G (p.Val1072Gly) c.3032T>G (p.Val1011Gly) n.5568T>G c.1869+1346T>G (n.1869+1346T>G) c.3200T>G (p.Val1067Gly) c.3212T>G (p.Val1071Gly) c.3185T>G (p.Val1062Gly) c.3131T>G (p.Val1044Gly) c.2531T>G (p.Val844Gly) c.3479T>G (p.Val1160Gly) c.3476T>G (p.Val1159Gly) c.3395T>G (p.Val1132Gly) c.3326T>G (p.Val1109Gly) c.3194T>G (p.Val1065Gly) c.3062T>G (p.Val1021Gly) | |
20 | g.32435927T= | CA2360293461 | ASXL1 | c.3215T= (p.Val1072=) c.3032T= (p.Val1011=) n.5568T= c.1869+1346T= (n.1869+1346T=) c.3200T= (p.Val1067=) c.3212T= (p.Val1071=) c.3185T= (p.Val1062=) c.3131T= (p.Val1044=) c.2531T= (p.Val844=) c.3479T= (p.Val1160=) c.3476T= (p.Val1159=) c.3395T= (p.Val1132=) c.3326T= (p.Val1109=) c.3194T= (p.Val1065=) c.3062T= (p.Val1021=) | |
20 | g.32435927_32435928insTC | CA2519640378 | ASXL1 | c.3215_3216insTC (p.Arg1073ProfsTer?) c.3032_3033insTC (p.Arg1012ProfsTer?) n.5568_5569insTC c.1869+1346_1869+1347insTC (n.1869+1346_1869+1347insTC) c.3200_3201insTC (p.Arg1068ProfsTer?) c.3212_3213insTC (p.Arg1072ProfsTer?) c.3185_3186insTC (p.Arg1063ProfsTer?) c.3131_3132insTC (p.Arg1045ProfsTer?) c.2531_2532insTC (p.Arg845ProfsTer?) c.3479_3480insTC (p.Arg1161ProfsTer?) c.3476_3477insTC (p.Arg1160ProfsTer?) c.3395_3396insTC (p.Arg1133ProfsTer?) c.3326_3327insTC (p.Arg1110ProfsTer?) c.3194_3195insTC (p.Arg1066ProfsTer?) c.3062_3063insTC (p.Arg1022ProfsTer?) | |
20 | g.32435928C>A | CA510467111 | ASXL1 | c.3216C>A (p.Val1072=) c.3033C>A (p.Val1011=) n.5569C>A c.1869+1347C>A (n.1869+1347C>A) c.3201C>A (p.Val1067=) c.3213C>A (p.Val1071=) c.3186C>A (p.Val1062=) c.3132C>A (p.Val1044=) c.2532C>A (p.Val844=) c.3480C>A (p.Val1160=) c.3477C>A (p.Val1159=) c.3396C>A (p.Val1132=) c.3327C>A (p.Val1109=) c.3195C>A (p.Val1065=) c.3063C>A (p.Val1021=) | |
20 | g.32435928C= | CA2360293462 | ASXL1 | c.3216C= (p.Val1072=) c.3033C= (p.Val1011=) n.5569C= c.1869+1347C= (n.1869+1347C=) c.3201C= (p.Val1067=) c.3213C= (p.Val1071=) c.3186C= (p.Val1062=) c.3132C= (p.Val1044=) c.2532C= (p.Val844=) c.3480C= (p.Val1160=) c.3477C= (p.Val1159=) c.3396C= (p.Val1132=) c.3327C= (p.Val1109=) c.3195C= (p.Val1065=) c.3063C= (p.Val1021=) | |
20 | g.32435928C>G | CA510467113 | ASXL1 | c.3216C>G (p.Val1072=) c.3033C>G (p.Val1011=) n.5569C>G c.1869+1347C>G (n.1869+1347C>G) c.3201C>G (p.Val1067=) c.3213C>G (p.Val1071=) c.3186C>G (p.Val1062=) c.3132C>G (p.Val1044=) c.2532C>G (p.Val844=) c.3480C>G (p.Val1160=) c.3477C>G (p.Val1159=) c.3396C>G (p.Val1132=) c.3327C>G (p.Val1109=) c.3195C>G (p.Val1065=) c.3063C>G (p.Val1021=) | dbSNP |
20 | g.32435928C>T | CA510467114 | ASXL1 | c.3216C>T (p.Val1072=) c.3033C>T (p.Val1011=) n.5569C>T c.1869+1347C>T (n.1869+1347C>T) c.3201C>T (p.Val1067=) c.3213C>T (p.Val1071=) c.3186C>T (p.Val1062=) c.3132C>T (p.Val1044=) c.2532C>T (p.Val844=) c.3480C>T (p.Val1160=) c.3477C>T (p.Val1159=) c.3396C>T (p.Val1132=) c.3327C>T (p.Val1109=) c.3195C>T (p.Val1065=) c.3063C>T (p.Val1021=) | |
20 | g.32435929C>A | CA9808782 | ASXL1 | c.3217C>A (p.Arg1073Ser) c.3034C>A (p.Arg1012Ser) n.5570C>A c.1869+1348C>A (n.1869+1348C>A) c.3202C>A (p.Arg1068Ser) c.3214C>A (p.Arg1072Ser) c.3187C>A (p.Arg1063Ser) c.3133C>A (p.Arg1045Ser) c.2533C>A (p.Arg845Ser) c.3481C>A (p.Arg1161Ser) c.3478C>A (p.Arg1160Ser) c.3397C>A (p.Arg1133Ser) c.3328C>A (p.Arg1110Ser) c.3196C>A (p.Arg1066Ser) c.3064C>A (p.Arg1022Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32435929C= | CA2360293463 | ASXL1 | c.3217C= (p.Arg1073=) c.3034C= (p.Arg1012=) n.5570C= c.1869+1348C= (n.1869+1348C=) c.3202C= (p.Arg1068=) c.3214C= (p.Arg1072=) c.3187C= (p.Arg1063=) c.3133C= (p.Arg1045=) c.2533C= (p.Arg845=) c.3481C= (p.Arg1161=) c.3478C= (p.Arg1160=) c.3397C= (p.Arg1133=) c.3328C= (p.Arg1110=) c.3196C= (p.Arg1066=) c.3064C= (p.Arg1022=) | |
20 | g.32435929C>G | CA408562593 | ASXL1 | c.3217C>G (p.Arg1073Gly) c.3034C>G (p.Arg1012Gly) n.5570C>G c.1869+1348C>G (n.1869+1348C>G) c.3202C>G (p.Arg1068Gly) c.3214C>G (p.Arg1072Gly) c.3187C>G (p.Arg1063Gly) c.3133C>G (p.Arg1045Gly) c.2533C>G (p.Arg845Gly) c.3481C>G (p.Arg1161Gly) c.3478C>G (p.Arg1160Gly) c.3397C>G (p.Arg1133Gly) c.3328C>G (p.Arg1110Gly) c.3196C>G (p.Arg1066Gly) c.3064C>G (p.Arg1022Gly) | |
20 | g.32435929C>T | CA9808781 | ASXL1 | c.3217C>T (p.Arg1073Cys) c.3034C>T (p.Arg1012Cys) n.5570C>T c.1869+1348C>T (n.1869+1348C>T) c.3202C>T (p.Arg1068Cys) c.3214C>T (p.Arg1072Cys) c.3187C>T (p.Arg1063Cys) c.3133C>T (p.Arg1045Cys) c.2533C>T (p.Arg845Cys) c.3481C>T (p.Arg1161Cys) c.3478C>T (p.Arg1160Cys) c.3397C>T (p.Arg1133Cys) c.3328C>T (p.Arg1110Cys) c.3196C>T (p.Arg1066Cys) c.3064C>T (p.Arg1022Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32435930G>A | CA408562594 | ASXL1 | c.3218G>A (p.Arg1073His) c.3035G>A (p.Arg1012His) n.5571G>A c.1869+1349G>A (n.1869+1349G>A) c.3203G>A (p.Arg1068His) c.3215G>A (p.Arg1072His) c.3188G>A (p.Arg1063His) c.3134G>A (p.Arg1045His) c.2534G>A (p.Arg845His) c.3482G>A (p.Arg1161His) c.3479G>A (p.Arg1160His) c.3398G>A (p.Arg1133His) c.3329G>A (p.Arg1110His) c.3197G>A (p.Arg1066His) c.3065G>A (p.Arg1022His) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32435930G>C | CA408562595 | ASXL1 | c.3218G>C (p.Arg1073Pro) c.3035G>C (p.Arg1012Pro) n.5571G>C c.1869+1349G>C (n.1869+1349G>C) c.3203G>C (p.Arg1068Pro) c.3215G>C (p.Arg1072Pro) c.3188G>C (p.Arg1063Pro) c.3134G>C (p.Arg1045Pro) c.2534G>C (p.Arg845Pro) c.3482G>C (p.Arg1161Pro) c.3479G>C (p.Arg1160Pro) c.3398G>C (p.Arg1133Pro) c.3329G>C (p.Arg1110Pro) c.3197G>C (p.Arg1066Pro) c.3065G>C (p.Arg1022Pro) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32435930G= | CA2360293464 | ASXL1 | c.3218G= (p.Arg1073=) c.3035G= (p.Arg1012=) n.5571G= c.1869+1349G= (n.1869+1349G=) c.3203G= (p.Arg1068=) c.3215G= (p.Arg1072=) c.3188G= (p.Arg1063=) c.3134G= (p.Arg1045=) c.2534G= (p.Arg845=) c.3482G= (p.Arg1161=) c.3479G= (p.Arg1160=) c.3398G= (p.Arg1133=) c.3329G= (p.Arg1110=) c.3197G= (p.Arg1066=) c.3065G= (p.Arg1022=) | |
20 | g.32435930G>T | CA408562596 | ASXL1 | c.3218G>T (p.Arg1073Leu) c.3035G>T (p.Arg1012Leu) n.5571G>T c.1869+1349G>T (n.1869+1349G>T) c.3203G>T (p.Arg1068Leu) c.3215G>T (p.Arg1072Leu) c.3188G>T (p.Arg1063Leu) c.3134G>T (p.Arg1045Leu) c.2534G>T (p.Arg845Leu) c.3482G>T (p.Arg1161Leu) c.3479G>T (p.Arg1160Leu) c.3398G>T (p.Arg1133Leu) c.3329G>T (p.Arg1110Leu) c.3197G>T (p.Arg1066Leu) c.3065G>T (p.Arg1022Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.32435931C>A | CA510467116 | ASXL1 | c.3219C>A (p.Arg1073=) c.3036C>A (p.Arg1012=) n.5572C>A c.1869+1350C>A (n.1869+1350C>A) c.3204C>A (p.Arg1068=) c.3216C>A (p.Arg1072=) c.3189C>A (p.Arg1063=) c.3135C>A (p.Arg1045=) c.2535C>A (p.Arg845=) c.3483C>A (p.Arg1161=) c.3480C>A (p.Arg1160=) c.3399C>A (p.Arg1133=) c.3330C>A (p.Arg1110=) c.3198C>A (p.Arg1066=) c.3066C>A (p.Arg1022=) | |
20 | g.32435931C>G | CA510467118 | ASXL1 | c.3219C>G (p.Arg1073=) c.3036C>G (p.Arg1012=) n.5572C>G c.1869+1350C>G (n.1869+1350C>G) c.3204C>G (p.Arg1068=) c.3216C>G (p.Arg1072=) c.3189C>G (p.Arg1063=) c.3135C>G (p.Arg1045=) c.2535C>G (p.Arg845=) c.3483C>G (p.Arg1161=) c.3480C>G (p.Arg1160=) c.3399C>G (p.Arg1133=) c.3330C>G (p.Arg1110=) c.3198C>G (p.Arg1066=) c.3066C>G (p.Arg1022=) | |
20 | g.32435931C>T | CA510467117 | ASXL1 | c.3219C>T (p.Arg1073=) c.3036C>T (p.Arg1012=) n.5572C>T c.1869+1350C>T (n.1869+1350C>T) c.3204C>T (p.Arg1068=) c.3216C>T (p.Arg1072=) c.3189C>T (p.Arg1063=) c.3135C>T (p.Arg1045=) c.2535C>T (p.Arg845=) c.3483C>T (p.Arg1161=) c.3480C>T (p.Arg1160=) c.3399C>T (p.Arg1133=) c.3330C>T (p.Arg1110=) c.3198C>T (p.Arg1066=) c.3066C>T (p.Arg1022=) | |
20 | g.32435932C>A | CA408562597 | ASXL1 | c.3220C>A (p.Gln1074Lys) c.3037C>A (p.Gln1013Lys) n.5573C>A c.1869+1351C>A (n.1869+1351C>A) c.3205C>A (p.Gln1069Lys) c.3217C>A (p.Gln1073Lys) c.3190C>A (p.Gln1064Lys) c.3136C>A (p.Gln1046Lys) c.2536C>A (p.Gln846Lys) c.3484C>A (p.Gln1162Lys) c.3481C>A (p.Gln1161Lys) c.3400C>A (p.Gln1134Lys) c.3331C>A (p.Gln1111Lys) c.3199C>A (p.Gln1067Lys) c.3067C>A (p.Gln1023Lys) | |
20 | g.32435932C= | CA2360293465 | ASXL1 | c.3220C= (p.Gln1074=) c.3037C= (p.Gln1013=) n.5573C= c.1869+1351C= (n.1869+1351C=) c.3205C= (p.Gln1069=) c.3217C= (p.Gln1073=) c.3190C= (p.Gln1064=) c.3136C= (p.Gln1046=) c.2536C= (p.Gln846=) c.3484C= (p.Gln1162=) c.3481C= (p.Gln1161=) c.3400C= (p.Gln1134=) c.3331C= (p.Gln1111=) c.3199C= (p.Gln1067=) c.3067C= (p.Gln1023=) | |
20 | g.32435932C>G | CA408562598 | ASXL1 | c.3220C>G (p.Gln1074Glu) c.3037C>G (p.Gln1013Glu) n.5573C>G c.1869+1351C>G (n.1869+1351C>G) c.3205C>G (p.Gln1069Glu) c.3217C>G (p.Gln1073Glu) c.3190C>G (p.Gln1064Glu) c.3136C>G (p.Gln1046Glu) c.2536C>G (p.Gln846Glu) c.3484C>G (p.Gln1162Glu) c.3481C>G (p.Gln1161Glu) c.3400C>G (p.Gln1134Glu) c.3331C>G (p.Gln1111Glu) c.3199C>G (p.Gln1067Glu) c.3067C>G (p.Gln1023Glu) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32435932C>T | CA408562599 | ASXL1 | c.3220C>T (p.Gln1074Ter) c.3037C>T (p.Gln1013Ter) n.5573C>T c.1869+1351C>T (n.1869+1351C>T) c.3205C>T (p.Gln1069Ter) c.3217C>T (p.Gln1073Ter) c.3190C>T (p.Gln1064Ter) c.3136C>T (p.Gln1046Ter) c.2536C>T (p.Gln846Ter) c.3484C>T (p.Gln1162Ter) c.3481C>T (p.Gln1161Ter) c.3400C>T (p.Gln1134Ter) c.3331C>T (p.Gln1111Ter) c.3199C>T (p.Gln1067Ter) c.3067C>T (p.Gln1023Ter) | |
20 | g.32435933A>C | CA408562600 | ASXL1 | c.3221A>C (p.Gln1074Pro) c.3038A>C (p.Gln1013Pro) n.5574A>C c.1869+1352A>C (n.1869+1352A>C) c.3206A>C (p.Gln1069Pro) c.3218A>C (p.Gln1073Pro) c.3191A>C (p.Gln1064Pro) c.3137A>C (p.Gln1046Pro) c.2537A>C (p.Gln846Pro) c.3485A>C (p.Gln1162Pro) c.3482A>C (p.Gln1161Pro) c.3401A>C (p.Gln1134Pro) c.3332A>C (p.Gln1111Pro) c.3200A>C (p.Gln1067Pro) c.3068A>C (p.Gln1023Pro) | |
20 | g.32435933A>G | CA408562601 | ASXL1 | c.3221A>G (p.Gln1074Arg) c.3038A>G (p.Gln1013Arg) n.5574A>G c.1869+1352A>G (n.1869+1352A>G) c.3206A>G (p.Gln1069Arg) c.3218A>G (p.Gln1073Arg) c.3191A>G (p.Gln1064Arg) c.3137A>G (p.Gln1046Arg) c.2537A>G (p.Gln846Arg) c.3485A>G (p.Gln1162Arg) c.3482A>G (p.Gln1161Arg) c.3401A>G (p.Gln1134Arg) c.3332A>G (p.Gln1111Arg) c.3200A>G (p.Gln1067Arg) c.3068A>G (p.Gln1023Arg) | gnomAD v4 |
20 | g.32435933A>T | CA408562602 | ASXL1 | c.3221A>T (p.Gln1074Leu) c.3038A>T (p.Gln1013Leu) n.5574A>T c.1869+1352A>T (n.1869+1352A>T) c.3206A>T (p.Gln1069Leu) c.3218A>T (p.Gln1073Leu) c.3191A>T (p.Gln1064Leu) c.3137A>T (p.Gln1046Leu) c.2537A>T (p.Gln846Leu) c.3485A>T (p.Gln1162Leu) c.3482A>T (p.Gln1161Leu) c.3401A>T (p.Gln1134Leu) c.3332A>T (p.Gln1111Leu) c.3200A>T (p.Gln1067Leu) c.3068A>T (p.Gln1023Leu) | |
20 | g.32435934A= | CA2360293466 | ASXL1 | c.3222A= (p.Gln1074=) c.3039A= (p.Gln1013=) n.5575A= c.1869+1353A= (n.1869+1353A=) c.3207A= (p.Gln1069=) c.3219A= (p.Gln1073=) c.3192A= (p.Gln1064=) c.3138A= (p.Gln1046=) c.2538A= (p.Gln846=) c.3486A= (p.Gln1162=) c.3483A= (p.Gln1161=) c.3402A= (p.Gln1134=) c.3333A= (p.Gln1111=) c.3201A= (p.Gln1067=) c.3069A= (p.Gln1023=) | |
20 | g.32435934A>C | CA408562603 | ASXL1 | c.3222A>C (p.Gln1074His) c.3039A>C (p.Gln1013His) n.5575A>C c.1869+1353A>C (n.1869+1353A>C) c.3207A>C (p.Gln1069His) c.3219A>C (p.Gln1073His) c.3192A>C (p.Gln1064His) c.3138A>C (p.Gln1046His) c.2538A>C (p.Gln846His) c.3486A>C (p.Gln1162His) c.3483A>C (p.Gln1161His) c.3402A>C (p.Gln1134His) c.3333A>C (p.Gln1111His) c.3201A>C (p.Gln1067His) c.3069A>C (p.Gln1023His) | |
20 | g.32435934A>G | CA510467122 | ASXL1 | c.3222A>G (p.Gln1074=) c.3039A>G (p.Gln1013=) n.5575A>G c.1869+1353A>G (n.1869+1353A>G) c.3207A>G (p.Gln1069=) c.3219A>G (p.Gln1073=) c.3192A>G (p.Gln1064=) c.3138A>G (p.Gln1046=) c.2538A>G (p.Gln846=) c.3486A>G (p.Gln1162=) c.3483A>G (p.Gln1161=) c.3402A>G (p.Gln1134=) c.3333A>G (p.Gln1111=) c.3201A>G (p.Gln1067=) c.3069A>G (p.Gln1023=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32435934A>T | CA408562604 | ASXL1 | c.3222A>T (p.Gln1074His) c.3039A>T (p.Gln1013His) n.5575A>T c.1869+1353A>T (n.1869+1353A>T) c.3207A>T (p.Gln1069His) c.3219A>T (p.Gln1073His) c.3192A>T (p.Gln1064His) c.3138A>T (p.Gln1046His) c.2538A>T (p.Gln846His) c.3486A>T (p.Gln1162His) c.3483A>T (p.Gln1161His) c.3402A>T (p.Gln1134His) c.3333A>T (p.Gln1111His) c.3201A>T (p.Gln1067His) c.3069A>T (p.Gln1023His) | |
20 | g.32435935A>C | CA408562607 | ASXL1 | c.3223A>C (p.Lys1075Gln) c.3040A>C (p.Lys1014Gln) n.5576A>C c.1869+1354A>C (n.1869+1354A>C) c.3208A>C (p.Lys1070Gln) c.3220A>C (p.Lys1074Gln) c.3193A>C (p.Lys1065Gln) c.3139A>C (p.Lys1047Gln) c.2539A>C (p.Lys847Gln) c.3487A>C (p.Lys1163Gln) c.3484A>C (p.Lys1162Gln) c.3403A>C (p.Lys1135Gln) c.3334A>C (p.Lys1112Gln) c.3202A>C (p.Lys1068Gln) c.3070A>C (p.Lys1024Gln) | |
20 | g.32435935A>G | CA408562606 | ASXL1 | c.3223A>G (p.Lys1075Glu) c.3040A>G (p.Lys1014Glu) n.5576A>G c.1869+1354A>G (n.1869+1354A>G) c.3208A>G (p.Lys1070Glu) c.3220A>G (p.Lys1074Glu) c.3193A>G (p.Lys1065Glu) c.3139A>G (p.Lys1047Glu) c.2539A>G (p.Lys847Glu) c.3487A>G (p.Lys1163Glu) c.3484A>G (p.Lys1162Glu) c.3403A>G (p.Lys1135Glu) c.3334A>G (p.Lys1112Glu) c.3202A>G (p.Lys1068Glu) c.3070A>G (p.Lys1024Glu) | |
20 | g.32435935A>T | CA408562605 | ASXL1 | c.3223A>T (p.Lys1075Ter) c.3040A>T (p.Lys1014Ter) n.5576A>T c.1869+1354A>T (n.1869+1354A>T) c.3208A>T (p.Lys1070Ter) c.3220A>T (p.Lys1074Ter) c.3193A>T (p.Lys1065Ter) c.3139A>T (p.Lys1047Ter) c.2539A>T (p.Lys847Ter) c.3487A>T (p.Lys1163Ter) c.3484A>T (p.Lys1162Ter) c.3403A>T (p.Lys1135Ter) c.3334A>T (p.Lys1112Ter) c.3202A>T (p.Lys1068Ter) c.3070A>T (p.Lys1024Ter) | |
20 | g.32435936A>C | CA408562608 | ASXL1 | c.3224A>C (p.Lys1075Thr) c.3041A>C (p.Lys1014Thr) n.5577A>C c.1869+1355A>C (n.1869+1355A>C) c.3209A>C (p.Lys1070Thr) c.3221A>C (p.Lys1074Thr) c.3194A>C (p.Lys1065Thr) c.3140A>C (p.Lys1047Thr) c.2540A>C (p.Lys847Thr) c.3488A>C (p.Lys1163Thr) c.3485A>C (p.Lys1162Thr) c.3404A>C (p.Lys1135Thr) c.3335A>C (p.Lys1112Thr) c.3203A>C (p.Lys1068Thr) c.3071A>C (p.Lys1024Thr) | |
20 | g.32435936A>G | CA408562609 | ASXL1 | c.3224A>G (p.Lys1075Arg) c.3041A>G (p.Lys1014Arg) n.5577A>G c.1869+1355A>G (n.1869+1355A>G) c.3209A>G (p.Lys1070Arg) c.3221A>G (p.Lys1074Arg) c.3194A>G (p.Lys1065Arg) c.3140A>G (p.Lys1047Arg) c.2540A>G (p.Lys847Arg) c.3488A>G (p.Lys1163Arg) c.3485A>G (p.Lys1162Arg) c.3404A>G (p.Lys1135Arg) c.3335A>G (p.Lys1112Arg) c.3203A>G (p.Lys1068Arg) c.3071A>G (p.Lys1024Arg) | dbSNP gnomAD v4 |
20 | g.32435936A>T | CA408562610 | ASXL1 | c.3224A>T (p.Lys1075Met) c.3041A>T (p.Lys1014Met) n.5577A>T c.1869+1355A>T (n.1869+1355A>T) c.3209A>T (p.Lys1070Met) c.3221A>T (p.Lys1074Met) c.3194A>T (p.Lys1065Met) c.3140A>T (p.Lys1047Met) c.2540A>T (p.Lys847Met) c.3488A>T (p.Lys1163Met) c.3485A>T (p.Lys1162Met) c.3404A>T (p.Lys1135Met) c.3335A>T (p.Lys1112Met) c.3203A>T (p.Lys1068Met) c.3071A>T (p.Lys1024Met) | |
20 | g.32435937_32435938del | CA2535703173 | ASXL1 | c.3225_3226del (p.Lys1075AsnfsTer11) c.3042_3043del (p.Lys1014AsnfsTer11) n.5578_5579del c.1869+1356_1869+1357del (n.1869+1356_1869+1357del) c.3210_3211del (p.Lys1070AsnfsTer11) c.3222_3223del (p.Lys1074AsnfsTer11) c.3195_3196del (p.Lys1065AsnfsTer11) c.3141_3142del (p.Lys1047AsnfsTer11) c.2541_2542del (p.Lys847AsnfsTer11) c.3489_3490del (p.Lys1163AsnfsTer11) c.3486_3487del (p.Lys1162AsnfsTer11) c.3405_3406del (p.Lys1135AsnfsTer11) c.3336_3337del (p.Lys1112AsnfsTer11) c.3204_3205del (p.Lys1068AsnfsTer11) c.3072_3073del (p.Lys1024AsnfsTer11) | |
20 | g.32435937G>A | CA510467126 | ASXL1 | c.3225G>A (p.Lys1075=) c.3042G>A (p.Lys1014=) n.5578G>A c.1869+1356G>A (n.1869+1356G>A) c.3210G>A (p.Lys1070=) c.3222G>A (p.Lys1074=) c.3195G>A (p.Lys1065=) c.3141G>A (p.Lys1047=) c.2541G>A (p.Lys847=) c.3489G>A (p.Lys1163=) c.3486G>A (p.Lys1162=) c.3405G>A (p.Lys1135=) c.3336G>A (p.Lys1112=) c.3204G>A (p.Lys1068=) c.3072G>A (p.Lys1024=) | dbSNP |
20 | g.32435937G>C | CA408562611 | ASXL1 | c.3225G>C (p.Lys1075Asn) c.3042G>C (p.Lys1014Asn) n.5578G>C c.1869+1356G>C (n.1869+1356G>C) c.3210G>C (p.Lys1070Asn) c.3222G>C (p.Lys1074Asn) c.3195G>C (p.Lys1065Asn) c.3141G>C (p.Lys1047Asn) c.2541G>C (p.Lys847Asn) c.3489G>C (p.Lys1163Asn) c.3486G>C (p.Lys1162Asn) c.3405G>C (p.Lys1135Asn) c.3336G>C (p.Lys1112Asn) c.3204G>C (p.Lys1068Asn) c.3072G>C (p.Lys1024Asn) | |
20 | g.32435937G= | CA2360293467 | ASXL1 | c.3225G= (p.Lys1075=) c.3042G= (p.Lys1014=) n.5578G= c.1869+1356G= (n.1869+1356G=) c.3210G= (p.Lys1070=) c.3222G= (p.Lys1074=) c.3195G= (p.Lys1065=) c.3141G= (p.Lys1047=) c.2541G= (p.Lys847=) c.3489G= (p.Lys1163=) c.3486G= (p.Lys1162=) c.3405G= (p.Lys1135=) c.3336G= (p.Lys1112=) c.3204G= (p.Lys1068=) c.3072G= (p.Lys1024=) | |
20 | g.32435937G>T | CA408562612 | ASXL1 | c.3225G>T (p.Lys1075Asn) c.3042G>T (p.Lys1014Asn) n.5578G>T c.1869+1356G>T (n.1869+1356G>T) c.3210G>T (p.Lys1070Asn) c.3222G>T (p.Lys1074Asn) c.3195G>T (p.Lys1065Asn) c.3141G>T (p.Lys1047Asn) c.2541G>T (p.Lys847Asn) c.3489G>T (p.Lys1163Asn) c.3486G>T (p.Lys1162Asn) c.3405G>T (p.Lys1135Asn) c.3336G>T (p.Lys1112Asn) c.3204G>T (p.Lys1068Asn) c.3072G>T (p.Lys1024Asn) | |
20 | g.32435938A>C | CA408562613 | ASXL1 | c.3226A>C (p.Ile1076Leu) c.3043A>C (p.Ile1015Leu) n.5579A>C c.1869+1357A>C (n.1869+1357A>C) c.3211A>C (p.Ile1071Leu) c.3223A>C (p.Ile1075Leu) c.3196A>C (p.Ile1066Leu) c.3142A>C (p.Ile1048Leu) c.2542A>C (p.Ile848Leu) c.3490A>C (p.Ile1164Leu) c.3487A>C (p.Ile1163Leu) c.3406A>C (p.Ile1136Leu) c.3337A>C (p.Ile1113Leu) c.3205A>C (p.Ile1069Leu) c.3073A>C (p.Ile1025Leu) | |
20 | g.32435938A>G | CA408562614 | ASXL1 | c.3226A>G (p.Ile1076Val) c.3043A>G (p.Ile1015Val) n.5579A>G c.1869+1357A>G (n.1869+1357A>G) c.3211A>G (p.Ile1071Val) c.3223A>G (p.Ile1075Val) c.3196A>G (p.Ile1066Val) c.3142A>G (p.Ile1048Val) c.2542A>G (p.Ile848Val) c.3490A>G (p.Ile1164Val) c.3487A>G (p.Ile1163Val) c.3406A>G (p.Ile1136Val) c.3337A>G (p.Ile1113Val) c.3205A>G (p.Ile1069Val) c.3073A>G (p.Ile1025Val) | |
20 | g.32435938A>T | CA408562615 | ASXL1 | c.3226A>T (p.Ile1076Phe) c.3043A>T (p.Ile1015Phe) n.5579A>T c.1869+1357A>T (n.1869+1357A>T) c.3211A>T (p.Ile1071Phe) c.3223A>T (p.Ile1075Phe) c.3196A>T (p.Ile1066Phe) c.3142A>T (p.Ile1048Phe) c.2542A>T (p.Ile848Phe) c.3490A>T (p.Ile1164Phe) c.3487A>T (p.Ile1163Phe) c.3406A>T (p.Ile1136Phe) c.3337A>T (p.Ile1113Phe) c.3205A>T (p.Ile1069Phe) c.3073A>T (p.Ile1025Phe) | |
20 | g.32435939T>A | CA408562616 | ASXL1 | c.3227T>A (p.Ile1076Asn) c.3044T>A (p.Ile1015Asn) n.5580T>A c.1869+1358T>A (n.1869+1358T>A) c.3212T>A (p.Ile1071Asn) c.3224T>A (p.Ile1075Asn) c.3197T>A (p.Ile1066Asn) c.3143T>A (p.Ile1048Asn) c.2543T>A (p.Ile848Asn) c.3491T>A (p.Ile1164Asn) c.3488T>A (p.Ile1163Asn) c.3407T>A (p.Ile1136Asn) c.3338T>A (p.Ile1113Asn) c.3206T>A (p.Ile1069Asn) c.3074T>A (p.Ile1025Asn) | |
20 | g.32435939T>C | CA408562617 | ASXL1 | c.3227T>C (p.Ile1076Thr) c.3044T>C (p.Ile1015Thr) n.5580T>C c.1869+1358T>C (n.1869+1358T>C) c.3212T>C (p.Ile1071Thr) c.3224T>C (p.Ile1075Thr) c.3197T>C (p.Ile1066Thr) c.3143T>C (p.Ile1048Thr) c.2543T>C (p.Ile848Thr) c.3491T>C (p.Ile1164Thr) c.3488T>C (p.Ile1163Thr) c.3407T>C (p.Ile1136Thr) c.3338T>C (p.Ile1113Thr) c.3206T>C (p.Ile1069Thr) c.3074T>C (p.Ile1025Thr) | ClinVar gnomAD v4 |
20 | g.32435939T>G | CA408562618 | ASXL1 | c.3227T>G (p.Ile1076Ser) c.3044T>G (p.Ile1015Ser) n.5580T>G c.1869+1358T>G (n.1869+1358T>G) c.3212T>G (p.Ile1071Ser) c.3224T>G (p.Ile1075Ser) c.3197T>G (p.Ile1066Ser) c.3143T>G (p.Ile1048Ser) c.2543T>G (p.Ile848Ser) c.3491T>G (p.Ile1164Ser) c.3488T>G (p.Ile1163Ser) c.3407T>G (p.Ile1136Ser) c.3338T>G (p.Ile1113Ser) c.3206T>G (p.Ile1069Ser) c.3074T>G (p.Ile1025Ser) | |
20 | g.32435940C>A | CA510467131 | ASXL1 | c.3228C>A (p.Ile1076=) c.3045C>A (p.Ile1015=) n.5581C>A c.1869+1359C>A (n.1869+1359C>A) c.3213C>A (p.Ile1071=) c.3225C>A (p.Ile1075=) c.3198C>A (p.Ile1066=) c.3144C>A (p.Ile1048=) c.2544C>A (p.Ile848=) c.3492C>A (p.Ile1164=) c.3489C>A (p.Ile1163=) c.3408C>A (p.Ile1136=) c.3339C>A (p.Ile1113=) c.3207C>A (p.Ile1069=) c.3075C>A (p.Ile1025=) | |
20 | g.32435940C>G | CA408562619 | ASXL1 | c.3228C>G (p.Ile1076Met) c.3045C>G (p.Ile1015Met) n.5581C>G c.1869+1359C>G (n.1869+1359C>G) c.3213C>G (p.Ile1071Met) c.3225C>G (p.Ile1075Met) c.3198C>G (p.Ile1066Met) c.3144C>G (p.Ile1048Met) c.2544C>G (p.Ile848Met) c.3492C>G (p.Ile1164Met) c.3489C>G (p.Ile1163Met) c.3408C>G (p.Ile1136Met) c.3339C>G (p.Ile1113Met) c.3207C>G (p.Ile1069Met) c.3075C>G (p.Ile1025Met) | |
20 | g.32435940C>T | CA510467132 | ASXL1 | c.3228C>T (p.Ile1076=) c.3045C>T (p.Ile1015=) n.5581C>T c.1869+1359C>T (n.1869+1359C>T) c.3213C>T (p.Ile1071=) c.3225C>T (p.Ile1075=) c.3198C>T (p.Ile1066=) c.3144C>T (p.Ile1048=) c.2544C>T (p.Ile848=) c.3492C>T (p.Ile1164=) c.3489C>T (p.Ile1163=) c.3408C>T (p.Ile1136=) c.3339C>T (p.Ile1113=) c.3207C>T (p.Ile1069=) c.3075C>T (p.Ile1025=) | dbSNP |
20 | g.32435941C>A | CA408562622 | ASXL1 | c.3229C>A (p.Pro1077Thr) c.3046C>A (p.Pro1016Thr) n.5582C>A c.1869+1360C>A (n.1869+1360C>A) c.3214C>A (p.Pro1072Thr) c.3226C>A (p.Pro1076Thr) c.3199C>A (p.Pro1067Thr) c.3145C>A (p.Pro1049Thr) c.2545C>A (p.Pro849Thr) c.3493C>A (p.Pro1165Thr) c.3490C>A (p.Pro1164Thr) c.3409C>A (p.Pro1137Thr) c.3340C>A (p.Pro1114Thr) c.3208C>A (p.Pro1070Thr) c.3076C>A (p.Pro1026Thr) | |
20 | g.32435941C= | CA2360293468 | ASXL1 | c.3229C= (p.Pro1077=) c.3046C= (p.Pro1016=) n.5582C= c.1869+1360C= (n.1869+1360C=) c.3214C= (p.Pro1072=) c.3226C= (p.Pro1076=) c.3199C= (p.Pro1067=) c.3145C= (p.Pro1049=) c.2545C= (p.Pro849=) c.3493C= (p.Pro1165=) c.3490C= (p.Pro1164=) c.3409C= (p.Pro1137=) c.3340C= (p.Pro1114=) c.3208C= (p.Pro1070=) c.3076C= (p.Pro1026=) | |
20 | g.32435941C>G | CA408562621 | ASXL1 | c.3229C>G (p.Pro1077Ala) c.3046C>G (p.Pro1016Ala) n.5582C>G c.1869+1360C>G (n.1869+1360C>G) c.3214C>G (p.Pro1072Ala) c.3226C>G (p.Pro1076Ala) c.3199C>G (p.Pro1067Ala) c.3145C>G (p.Pro1049Ala) c.2545C>G (p.Pro849Ala) c.3493C>G (p.Pro1165Ala) c.3490C>G (p.Pro1164Ala) c.3409C>G (p.Pro1137Ala) c.3340C>G (p.Pro1114Ala) c.3208C>G (p.Pro1070Ala) c.3076C>G (p.Pro1026Ala) | |
20 | g.32435941C>T | CA408562620 | ASXL1 | c.3229C>T (p.Pro1077Ser) c.3046C>T (p.Pro1016Ser) n.5582C>T c.1869+1360C>T (n.1869+1360C>T) c.3214C>T (p.Pro1072Ser) c.3226C>T (p.Pro1076Ser) c.3199C>T (p.Pro1067Ser) c.3145C>T (p.Pro1049Ser) c.2545C>T (p.Pro849Ser) c.3493C>T (p.Pro1165Ser) c.3490C>T (p.Pro1164Ser) c.3409C>T (p.Pro1137Ser) c.3340C>T (p.Pro1114Ser) c.3208C>T (p.Pro1070Ser) c.3076C>T (p.Pro1026Ser) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32435942C>A | CA408562625 | ASXL1 | c.3230C>A (p.Pro1077Gln) c.3047C>A (p.Pro1016Gln) n.5583C>A c.1869+1361C>A (n.1869+1361C>A) c.3215C>A (p.Pro1072Gln) c.3227C>A (p.Pro1076Gln) c.3200C>A (p.Pro1067Gln) c.3146C>A (p.Pro1049Gln) c.2546C>A (p.Pro849Gln) c.3494C>A (p.Pro1165Gln) c.3491C>A (p.Pro1164Gln) c.3410C>A (p.Pro1137Gln) c.3341C>A (p.Pro1114Gln) c.3209C>A (p.Pro1070Gln) c.3077C>A (p.Pro1026Gln) | dbSNP |
20 | g.32435942C= | CA2360293469 | ASXL1 | c.3230C= (p.Pro1077=) c.3047C= (p.Pro1016=) n.5583C= c.1869+1361C= (n.1869+1361C=) c.3215C= (p.Pro1072=) c.3227C= (p.Pro1076=) c.3200C= (p.Pro1067=) c.3146C= (p.Pro1049=) c.2546C= (p.Pro849=) c.3494C= (p.Pro1165=) c.3491C= (p.Pro1164=) c.3410C= (p.Pro1137=) c.3341C= (p.Pro1114=) c.3209C= (p.Pro1070=) c.3077C= (p.Pro1026=) | |
20 | g.32435942C>G | CA408562623 | ASXL1 | c.3230C>G (p.Pro1077Arg) c.3047C>G (p.Pro1016Arg) n.5583C>G c.1869+1361C>G (n.1869+1361C>G) c.3215C>G (p.Pro1072Arg) c.3227C>G (p.Pro1076Arg) c.3200C>G (p.Pro1067Arg) c.3146C>G (p.Pro1049Arg) c.2546C>G (p.Pro849Arg) c.3494C>G (p.Pro1165Arg) c.3491C>G (p.Pro1164Arg) c.3410C>G (p.Pro1137Arg) c.3341C>G (p.Pro1114Arg) c.3209C>G (p.Pro1070Arg) c.3077C>G (p.Pro1026Arg) | dbSNP gnomAD v4 |
20 | g.32435942C>T | CA408562624 | ASXL1 | c.3230C>T (p.Pro1077Leu) c.3047C>T (p.Pro1016Leu) n.5583C>T c.1869+1361C>T (n.1869+1361C>T) c.3215C>T (p.Pro1072Leu) c.3227C>T (p.Pro1076Leu) c.3200C>T (p.Pro1067Leu) c.3146C>T (p.Pro1049Leu) c.2546C>T (p.Pro849Leu) c.3494C>T (p.Pro1165Leu) c.3491C>T (p.Pro1164Leu) c.3410C>T (p.Pro1137Leu) c.3341C>T (p.Pro1114Leu) c.3209C>T (p.Pro1070Leu) c.3077C>T (p.Pro1026Leu) | |
20 | g.32435943A>C | CA510467137 | ASXL1 | c.3231A>C (p.Pro1077=) c.3048A>C (p.Pro1016=) n.5584A>C c.1869+1362A>C (n.1869+1362A>C) c.3216A>C (p.Pro1072=) c.3228A>C (p.Pro1076=) c.3201A>C (p.Pro1067=) c.3147A>C (p.Pro1049=) c.2547A>C (p.Pro849=) c.3495A>C (p.Pro1165=) c.3492A>C (p.Pro1164=) c.3411A>C (p.Pro1137=) c.3342A>C (p.Pro1114=) c.3210A>C (p.Pro1070=) c.3078A>C (p.Pro1026=) | |
20 | g.32435943A>G | CA510467139 | ASXL1 | c.3231A>G (p.Pro1077=) c.3048A>G (p.Pro1016=) n.5584A>G c.1869+1362A>G (n.1869+1362A>G) c.3216A>G (p.Pro1072=) c.3228A>G (p.Pro1076=) c.3201A>G (p.Pro1067=) c.3147A>G (p.Pro1049=) c.2547A>G (p.Pro849=) c.3495A>G (p.Pro1165=) c.3492A>G (p.Pro1164=) c.3411A>G (p.Pro1137=) c.3342A>G (p.Pro1114=) c.3210A>G (p.Pro1070=) c.3078A>G (p.Pro1026=) | gnomAD v4 |
20 | g.32435943A>T | CA510467138 | ASXL1 | c.3231A>T (p.Pro1077=) c.3048A>T (p.Pro1016=) n.5584A>T c.1869+1362A>T (n.1869+1362A>T) c.3216A>T (p.Pro1072=) c.3228A>T (p.Pro1076=) c.3201A>T (p.Pro1067=) c.3147A>T (p.Pro1049=) c.2547A>T (p.Pro849=) c.3495A>T (p.Pro1165=) c.3492A>T (p.Pro1164=) c.3411A>T (p.Pro1137=) c.3342A>T (p.Pro1114=) c.3210A>T (p.Pro1070=) c.3078A>T (p.Pro1026=) | |
20 | g.32435944G>A | CA408562626 | ASXL1 | c.3232G>A (p.Asp1078Asn) c.3049G>A (p.Asp1017Asn) n.5585G>A c.1869+1363G>A (n.1869+1363G>A) c.3217G>A (p.Asp1073Asn) c.3229G>A (p.Asp1077Asn) c.3202G>A (p.Asp1068Asn) c.3148G>A (p.Asp1050Asn) c.2548G>A (p.Asp850Asn) c.3496G>A (p.Asp1166Asn) c.3493G>A (p.Asp1165Asn) c.3412G>A (p.Asp1138Asn) c.3343G>A (p.Asp1115Asn) c.3211G>A (p.Asp1071Asn) c.3079G>A (p.Asp1027Asn) | |
20 | g.32435944G>C | CA408562627 | ASXL1 | c.3232G>C (p.Asp1078His) c.3049G>C (p.Asp1017His) n.5585G>C c.1869+1363G>C (n.1869+1363G>C) c.3217G>C (p.Asp1073His) c.3229G>C (p.Asp1077His) c.3202G>C (p.Asp1068His) c.3148G>C (p.Asp1050His) c.2548G>C (p.Asp850His) c.3496G>C (p.Asp1166His) c.3493G>C (p.Asp1165His) c.3412G>C (p.Asp1138His) c.3343G>C (p.Asp1115His) c.3211G>C (p.Asp1071His) c.3079G>C (p.Asp1027His) | dbSNP |
20 | g.32435944G= | CA2360293470 | ASXL1 | c.3232G= (p.Asp1078=) c.3049G= (p.Asp1017=) n.5585G= c.1869+1363G= (n.1869+1363G=) c.3217G= (p.Asp1073=) c.3229G= (p.Asp1077=) c.3202G= (p.Asp1068=) c.3148G= (p.Asp1050=) c.2548G= (p.Asp850=) c.3496G= (p.Asp1166=) c.3493G= (p.Asp1165=) c.3412G= (p.Asp1138=) c.3343G= (p.Asp1115=) c.3211G= (p.Asp1071=) c.3079G= (p.Asp1027=) | |
20 | g.32435944G>T | CA408562628 | ASXL1 | c.3232G>T (p.Asp1078Tyr) c.3049G>T (p.Asp1017Tyr) n.5585G>T c.1869+1363G>T (n.1869+1363G>T) c.3217G>T (p.Asp1073Tyr) c.3229G>T (p.Asp1077Tyr) c.3202G>T (p.Asp1068Tyr) c.3148G>T (p.Asp1050Tyr) c.2548G>T (p.Asp850Tyr) c.3496G>T (p.Asp1166Tyr) c.3493G>T (p.Asp1165Tyr) c.3412G>T (p.Asp1138Tyr) c.3343G>T (p.Asp1115Tyr) c.3211G>T (p.Asp1071Tyr) c.3079G>T (p.Asp1027Tyr) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32435945A>C | CA408562629 | ASXL1 | c.3233A>C (p.Asp1078Ala) c.3050A>C (p.Asp1017Ala) n.5586A>C c.1869+1364A>C (n.1869+1364A>C) c.3218A>C (p.Asp1073Ala) c.3230A>C (p.Asp1077Ala) c.3203A>C (p.Asp1068Ala) c.3149A>C (p.Asp1050Ala) c.2549A>C (p.Asp850Ala) c.3497A>C (p.Asp1166Ala) c.3494A>C (p.Asp1165Ala) c.3413A>C (p.Asp1138Ala) c.3344A>C (p.Asp1115Ala) c.3212A>C (p.Asp1071Ala) c.3080A>C (p.Asp1027Ala) | |
20 | g.32435945A>G | CA408562630 | ASXL1 | c.3233A>G (p.Asp1078Gly) c.3050A>G (p.Asp1017Gly) n.5586A>G c.1869+1364A>G (n.1869+1364A>G) c.3218A>G (p.Asp1073Gly) c.3230A>G (p.Asp1077Gly) c.3203A>G (p.Asp1068Gly) c.3149A>G (p.Asp1050Gly) c.2549A>G (p.Asp850Gly) c.3497A>G (p.Asp1166Gly) c.3494A>G (p.Asp1165Gly) c.3413A>G (p.Asp1138Gly) c.3344A>G (p.Asp1115Gly) c.3212A>G (p.Asp1071Gly) c.3080A>G (p.Asp1027Gly) | |
20 | g.32435945A>T | CA408562631 | ASXL1 | c.3233A>T (p.Asp1078Val) c.3050A>T (p.Asp1017Val) n.5586A>T c.1869+1364A>T (n.1869+1364A>T) c.3218A>T (p.Asp1073Val) c.3230A>T (p.Asp1077Val) c.3203A>T (p.Asp1068Val) c.3149A>T (p.Asp1050Val) c.2549A>T (p.Asp850Val) c.3497A>T (p.Asp1166Val) c.3494A>T (p.Asp1165Val) c.3413A>T (p.Asp1138Val) c.3344A>T (p.Asp1115Val) c.3212A>T (p.Asp1071Val) c.3080A>T (p.Asp1027Val) | |
20 | g.32435946T>A | CA408562632 | ASXL1 | c.3234T>A (p.Asp1078Glu) c.3051T>A (p.Asp1017Glu) n.5587T>A c.1869+1365T>A (n.1869+1365T>A) c.3219T>A (p.Asp1073Glu) c.3231T>A (p.Asp1077Glu) c.3204T>A (p.Asp1068Glu) c.3150T>A (p.Asp1050Glu) c.2550T>A (p.Asp850Glu) c.3498T>A (p.Asp1166Glu) c.3495T>A (p.Asp1165Glu) c.3414T>A (p.Asp1138Glu) c.3345T>A (p.Asp1115Glu) c.3213T>A (p.Asp1071Glu) c.3081T>A (p.Asp1027Glu) | |
20 | g.32435946T>C | CA510467141 | ASXL1 | c.3234T>C (p.Asp1078=) c.3051T>C (p.Asp1017=) n.5587T>C c.1869+1365T>C (n.1869+1365T>C) c.3219T>C (p.Asp1073=) c.3231T>C (p.Asp1077=) c.3204T>C (p.Asp1068=) c.3150T>C (p.Asp1050=) c.2550T>C (p.Asp850=) c.3498T>C (p.Asp1166=) c.3495T>C (p.Asp1165=) c.3414T>C (p.Asp1138=) c.3345T>C (p.Asp1115=) c.3213T>C (p.Asp1071=) c.3081T>C (p.Asp1027=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.32435946T>G | CA408562633 | ASXL1 | c.3234T>G (p.Asp1078Glu) c.3051T>G (p.Asp1017Glu) n.5587T>G c.1869+1365T>G (n.1869+1365T>G) c.3219T>G (p.Asp1073Glu) c.3231T>G (p.Asp1077Glu) c.3204T>G (p.Asp1068Glu) c.3150T>G (p.Asp1050Glu) c.2550T>G (p.Asp850Glu) c.3498T>G (p.Asp1166Glu) c.3495T>G (p.Asp1165Glu) c.3414T>G (p.Asp1138Glu) c.3345T>G (p.Asp1115Glu) c.3213T>G (p.Asp1071Glu) c.3081T>G (p.Asp1027Glu) | |
20 | g.32435946T= | CA2360293471 | ASXL1 | c.3234T= (p.Asp1078=) c.3051T= (p.Asp1017=) n.5587T= c.1869+1365T= (n.1869+1365T=) c.3219T= (p.Asp1073=) c.3231T= (p.Asp1077=) c.3204T= (p.Asp1068=) c.3150T= (p.Asp1050=) c.2550T= (p.Asp850=) c.3498T= (p.Asp1166=) c.3495T= (p.Asp1165=) c.3414T= (p.Asp1138=) c.3345T= (p.Asp1115=) c.3213T= (p.Asp1071=) c.3081T= (p.Asp1027=) | |
20 | g.32435947T>A | CA408562634 | ASXL1 | c.3235T>A (p.Ser1079Thr) c.3052T>A (p.Ser1018Thr) n.5588T>A c.1869+1366T>A (n.1869+1366T>A) c.3220T>A (p.Ser1074Thr) c.3232T>A (p.Ser1078Thr) c.3205T>A (p.Ser1069Thr) c.3151T>A (p.Ser1051Thr) c.2551T>A (p.Ser851Thr) c.3499T>A (p.Ser1167Thr) c.3496T>A (p.Ser1166Thr) c.3415T>A (p.Ser1139Thr) c.3346T>A (p.Ser1116Thr) c.3214T>A (p.Ser1072Thr) c.3082T>A (p.Ser1028Thr) | |
20 | g.32435947T>C | CA9808783 | ASXL1 | c.3235T>C (p.Ser1079Pro) c.3052T>C (p.Ser1018Pro) n.5588T>C c.1869+1366T>C (n.1869+1366T>C) c.3220T>C (p.Ser1074Pro) c.3232T>C (p.Ser1078Pro) c.3205T>C (p.Ser1069Pro) c.3151T>C (p.Ser1051Pro) c.2551T>C (p.Ser851Pro) c.3499T>C (p.Ser1167Pro) c.3496T>C (p.Ser1166Pro) c.3415T>C (p.Ser1139Pro) c.3346T>C (p.Ser1116Pro) c.3214T>C (p.Ser1072Pro) c.3082T>C (p.Ser1028Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32435947T>G | CA408562635 | ASXL1 | c.3235T>G (p.Ser1079Ala) c.3052T>G (p.Ser1018Ala) n.5588T>G c.1869+1366T>G (n.1869+1366T>G) c.3220T>G (p.Ser1074Ala) c.3232T>G (p.Ser1078Ala) c.3205T>G (p.Ser1069Ala) c.3151T>G (p.Ser1051Ala) c.2551T>G (p.Ser851Ala) c.3499T>G (p.Ser1167Ala) c.3496T>G (p.Ser1166Ala) c.3415T>G (p.Ser1139Ala) c.3346T>G (p.Ser1116Ala) c.3214T>G (p.Ser1072Ala) c.3082T>G (p.Ser1028Ala) | |
20 | g.32435947T= | CA2360293472 | ASXL1 | c.3235T= (p.Ser1079=) c.3052T= (p.Ser1018=) n.5588T= c.1869+1366T= (n.1869+1366T=) c.3220T= (p.Ser1074=) c.3232T= (p.Ser1078=) c.3205T= (p.Ser1069=) c.3151T= (p.Ser1051=) c.2551T= (p.Ser851=) c.3499T= (p.Ser1167=) c.3496T= (p.Ser1166=) c.3415T= (p.Ser1139=) c.3346T= (p.Ser1116=) c.3214T= (p.Ser1072=) c.3082T= (p.Ser1028=) | |
20 | g.32435948C>A | CA408562638 | ASXL1 | c.3236C>A (p.Ser1079Tyr) c.3053C>A (p.Ser1018Tyr) n.5589C>A c.1869+1367C>A (n.1869+1367C>A) c.3221C>A (p.Ser1074Tyr) c.3233C>A (p.Ser1078Tyr) c.3206C>A (p.Ser1069Tyr) c.3152C>A (p.Ser1051Tyr) c.2552C>A (p.Ser851Tyr) c.3500C>A (p.Ser1167Tyr) c.3497C>A (p.Ser1166Tyr) c.3416C>A (p.Ser1139Tyr) c.3347C>A (p.Ser1116Tyr) c.3215C>A (p.Ser1072Tyr) c.3083C>A (p.Ser1028Tyr) | dbSNP |
20 | g.32435948C>G | CA408562636 | ASXL1 | c.3236C>G (p.Ser1079Cys) c.3053C>G (p.Ser1018Cys) n.5589C>G c.1869+1367C>G (n.1869+1367C>G) c.3221C>G (p.Ser1074Cys) c.3233C>G (p.Ser1078Cys) c.3206C>G (p.Ser1069Cys) c.3152C>G (p.Ser1051Cys) c.2552C>G (p.Ser851Cys) c.3500C>G (p.Ser1167Cys) c.3497C>G (p.Ser1166Cys) c.3416C>G (p.Ser1139Cys) c.3347C>G (p.Ser1116Cys) c.3215C>G (p.Ser1072Cys) c.3083C>G (p.Ser1028Cys) | |
20 | g.32435948C>T | CA408562637 | ASXL1 | c.3236C>T (p.Ser1079Phe) c.3053C>T (p.Ser1018Phe) n.5589C>T c.1869+1367C>T (n.1869+1367C>T) c.3221C>T (p.Ser1074Phe) c.3233C>T (p.Ser1078Phe) c.3206C>T (p.Ser1069Phe) c.3152C>T (p.Ser1051Phe) c.2552C>T (p.Ser851Phe) c.3500C>T (p.Ser1167Phe) c.3497C>T (p.Ser1166Phe) c.3416C>T (p.Ser1139Phe) c.3347C>T (p.Ser1116Phe) c.3215C>T (p.Ser1072Phe) c.3083C>T (p.Ser1028Phe) | |
20 | g.32435950del | CA2573054864 | ASXL1 | c.3238del (p.Leu1080TyrfsTer29) c.3055del (p.Leu1019TyrfsTer29) n.5591del c.1869+1369del (n.1869+1369del) c.3223del (p.Leu1075TyrfsTer29) c.3235del (p.Leu1079TyrfsTer29) c.3208del (p.Leu1070TyrfsTer29) c.3154del (p.Leu1052TyrfsTer29) c.2554del (p.Leu852TyrfsTer29) c.3502del (p.Leu1168TyrfsTer29) c.3499del (p.Leu1167TyrfsTer29) c.3418del (p.Leu1140TyrfsTer29) c.3349del (p.Leu1117TyrfsTer29) c.3217del (p.Leu1073TyrfsTer29) c.3085del (p.Leu1029TyrfsTer29) | ClinVar dbSNP |
20 | g.32435949C>A | CA510467143 | ASXL1 | c.3237C>A (p.Ser1079=) c.3054C>A (p.Ser1018=) n.5590C>A c.1869+1368C>A (n.1869+1368C>A) c.3222C>A (p.Ser1074=) c.3234C>A (p.Ser1078=) c.3207C>A (p.Ser1069=) c.3153C>A (p.Ser1051=) c.2553C>A (p.Ser851=) c.3501C>A (p.Ser1167=) c.3498C>A (p.Ser1166=) c.3417C>A (p.Ser1139=) c.3348C>A (p.Ser1116=) c.3216C>A (p.Ser1072=) c.3084C>A (p.Ser1028=) | |
20 | g.32435949C>G | CA510467144 | ASXL1 | c.3237C>G (p.Ser1079=) c.3054C>G (p.Ser1018=) n.5590C>G c.1869+1368C>G (n.1869+1368C>G) c.3222C>G (p.Ser1074=) c.3234C>G (p.Ser1078=) c.3207C>G (p.Ser1069=) c.3153C>G (p.Ser1051=) c.2553C>G (p.Ser851=) c.3501C>G (p.Ser1167=) c.3498C>G (p.Ser1166=) c.3417C>G (p.Ser1139=) c.3348C>G (p.Ser1116=) c.3216C>G (p.Ser1072=) c.3084C>G (p.Ser1028=) | COSMIC COSMIC |
20 | g.32435949C>T | CA510467145 | ASXL1 | c.3237C>T (p.Ser1079=) c.3054C>T (p.Ser1018=) n.5590C>T c.1869+1368C>T (n.1869+1368C>T) c.3222C>T (p.Ser1074=) c.3234C>T (p.Ser1078=) c.3207C>T (p.Ser1069=) c.3153C>T (p.Ser1051=) c.2553C>T (p.Ser851=) c.3501C>T (p.Ser1167=) c.3498C>T (p.Ser1166=) c.3417C>T (p.Ser1139=) c.3348C>T (p.Ser1116=) c.3216C>T (p.Ser1072=) c.3084C>T (p.Ser1028=) | |
20 | g.32435950C>A | CA408562639 | ASXL1 | c.3238C>A (p.Leu1080Ile) c.3055C>A (p.Leu1019Ile) n.5591C>A c.1869+1369C>A (n.1869+1369C>A) c.3223C>A (p.Leu1075Ile) c.3235C>A (p.Leu1079Ile) c.3208C>A (p.Leu1070Ile) c.3154C>A (p.Leu1052Ile) c.2554C>A (p.Leu852Ile) c.3502C>A (p.Leu1168Ile) c.3499C>A (p.Leu1167Ile) c.3418C>A (p.Leu1140Ile) c.3349C>A (p.Leu1117Ile) c.3217C>A (p.Leu1073Ile) c.3085C>A (p.Leu1029Ile) | dbSNP |
20 | g.32435950C= | CA2360293473 | ASXL1 | c.3238C= (p.Leu1080=) c.3055C= (p.Leu1019=) n.5591C= c.1869+1369C= (n.1869+1369C=) c.3223C= (p.Leu1075=) c.3235C= (p.Leu1079=) c.3208C= (p.Leu1070=) c.3154C= (p.Leu1052=) c.2554C= (p.Leu852=) c.3502C= (p.Leu1168=) c.3499C= (p.Leu1167=) c.3418C= (p.Leu1140=) c.3349C= (p.Leu1117=) c.3217C= (p.Leu1073=) c.3085C= (p.Leu1029=) | |
20 | g.32435950C>G | CA408562640 | ASXL1 | c.3238C>G (p.Leu1080Val) c.3055C>G (p.Leu1019Val) n.5591C>G c.1869+1369C>G (n.1869+1369C>G) c.3223C>G (p.Leu1075Val) c.3235C>G (p.Leu1079Val) c.3208C>G (p.Leu1070Val) c.3154C>G (p.Leu1052Val) c.2554C>G (p.Leu852Val) c.3502C>G (p.Leu1168Val) c.3499C>G (p.Leu1167Val) c.3418C>G (p.Leu1140Val) c.3349C>G (p.Leu1117Val) c.3217C>G (p.Leu1073Val) c.3085C>G (p.Leu1029Val) | |
20 | g.32435950C>T | CA510467146 | ASXL1 | c.3238C>T (p.Leu1080=) c.3055C>T (p.Leu1019=) n.5591C>T c.1869+1369C>T (n.1869+1369C>T) c.3223C>T (p.Leu1075=) c.3235C>T (p.Leu1079=) c.3208C>T (p.Leu1070=) c.3154C>T (p.Leu1052=) c.2554C>T (p.Leu852=) c.3502C>T (p.Leu1168=) c.3499C>T (p.Leu1167=) c.3418C>T (p.Leu1140=) c.3349C>T (p.Leu1117=) c.3217C>T (p.Leu1073=) c.3085C>T (p.Leu1029=) | ClinVar dbSNP gnomAD v4 |
20 | g.32435951T>A | CA408562641 | ASXL1 | c.3239T>A (p.Leu1080Gln) c.3056T>A (p.Leu1019Gln) n.5592T>A c.1869+1370T>A (n.1869+1370T>A) c.3224T>A (p.Leu1075Gln) c.3236T>A (p.Leu1079Gln) c.3209T>A (p.Leu1070Gln) c.3155T>A (p.Leu1052Gln) c.2555T>A (p.Leu852Gln) c.3503T>A (p.Leu1168Gln) c.3500T>A (p.Leu1167Gln) c.3419T>A (p.Leu1140Gln) c.3350T>A (p.Leu1117Gln) c.3218T>A (p.Leu1073Gln) c.3086T>A (p.Leu1029Gln) | |
20 | g.32435951T>C | CA408562642 | ASXL1 | c.3239T>C (p.Leu1080Pro) c.3056T>C (p.Leu1019Pro) n.5592T>C c.1869+1370T>C (n.1869+1370T>C) c.3224T>C (p.Leu1075Pro) c.3236T>C (p.Leu1079Pro) c.3209T>C (p.Leu1070Pro) c.3155T>C (p.Leu1052Pro) c.2555T>C (p.Leu852Pro) c.3503T>C (p.Leu1168Pro) c.3500T>C (p.Leu1167Pro) c.3419T>C (p.Leu1140Pro) c.3350T>C (p.Leu1117Pro) c.3218T>C (p.Leu1073Pro) c.3086T>C (p.Leu1029Pro) | |
20 | g.32435951T>G | CA408562643 | ASXL1 | c.3239T>G (p.Leu1080Arg) c.3056T>G (p.Leu1019Arg) n.5592T>G c.1869+1370T>G (n.1869+1370T>G) c.3224T>G (p.Leu1075Arg) c.3236T>G (p.Leu1079Arg) c.3209T>G (p.Leu1070Arg) c.3155T>G (p.Leu1052Arg) c.2555T>G (p.Leu852Arg) c.3503T>G (p.Leu1168Arg) c.3500T>G (p.Leu1167Arg) c.3419T>G (p.Leu1140Arg) c.3350T>G (p.Leu1117Arg) c.3218T>G (p.Leu1073Arg) c.3086T>G (p.Leu1029Arg) | |
20 | g.32435952A>C | CA510467148 | ASXL1 | c.3240A>C (p.Leu1080=) c.3057A>C (p.Leu1019=) n.5593A>C c.1869+1371A>C (n.1869+1371A>C) c.3225A>C (p.Leu1075=) c.3237A>C (p.Leu1079=) c.3210A>C (p.Leu1070=) c.3156A>C (p.Leu1052=) c.2556A>C (p.Leu852=) c.3504A>C (p.Leu1168=) c.3501A>C (p.Leu1167=) c.3420A>C (p.Leu1140=) c.3351A>C (p.Leu1117=) c.3219A>C (p.Leu1073=) c.3087A>C (p.Leu1029=) | gnomAD v4 |
20 | g.32435952A>G | CA510467149 | ASXL1 | c.3240A>G (p.Leu1080=) c.3057A>G (p.Leu1019=) n.5593A>G c.1869+1371A>G (n.1869+1371A>G) c.3225A>G (p.Leu1075=) c.3237A>G (p.Leu1079=) c.3210A>G (p.Leu1070=) c.3156A>G (p.Leu1052=) c.2556A>G (p.Leu852=) c.3504A>G (p.Leu1168=) c.3501A>G (p.Leu1167=) c.3420A>G (p.Leu1140=) c.3351A>G (p.Leu1117=) c.3219A>G (p.Leu1073=) c.3087A>G (p.Leu1029=) | gnomAD v4 |
20 | g.32435952A>T | CA510467147 | ASXL1 | c.3240A>T (p.Leu1080=) c.3057A>T (p.Leu1019=) n.5593A>T c.1869+1371A>T (n.1869+1371A>T) c.3225A>T (p.Leu1075=) c.3237A>T (p.Leu1079=) c.3210A>T (p.Leu1070=) c.3156A>T (p.Leu1052=) c.2556A>T (p.Leu852=) c.3504A>T (p.Leu1168=) c.3501A>T (p.Leu1167=) c.3420A>T (p.Leu1140=) c.3351A>T (p.Leu1117=) c.3219A>T (p.Leu1073=) c.3087A>T (p.Leu1029=) | |
20 | g.32435952_32435955delinsACTG | CA2360293474 | ASXL1 | c.3240_3243delinsACTG (p.Leu1080=) c.3057_3060delinsACTG (p.Leu1019=) n.5593_5596delinsACTG c.1869+1371_1869+1374delinsACTG (n.1869+1371_1869+1374delinsACTG) c.3225_3228delinsACTG (p.Leu1075=) c.3237_3240delinsACTG (p.Leu1079=) c.3210_3213delinsACTG (p.Leu1070=) c.3156_3159delinsACTG (p.Leu1052=) c.2556_2559delinsACTG (p.Leu852=) c.3504_3507delinsACTG (p.Leu1168=) c.3501_3504delinsACTG (p.Leu1167=) c.3420_3423delinsACTG (p.Leu1140=) c.3351_3354delinsACTG (p.Leu1117=) c.3219_3222delinsACTG (p.Leu1073=) c.3087_3090delinsACTG (p.Leu1029=) | |
20 | g.32435953C>A | CA408562644 | ASXL1 | c.3241C>A (p.Leu1081Met) c.3058C>A (p.Leu1020Met) n.5594C>A c.1869+1372C>A (n.1869+1372C>A) c.3226C>A (p.Leu1076Met) c.3238C>A (p.Leu1080Met) c.3211C>A (p.Leu1071Met) c.3157C>A (p.Leu1053Met) c.2557C>A (p.Leu853Met) c.3505C>A (p.Leu1169Met) c.3502C>A (p.Leu1168Met) c.3421C>A (p.Leu1141Met) c.3352C>A (p.Leu1118Met) c.3220C>A (p.Leu1074Met) c.3088C>A (p.Leu1030Met) | |
20 | g.32435953C>G | CA408562645 | ASXL1 | c.3241C>G (p.Leu1081Val) c.3058C>G (p.Leu1020Val) n.5594C>G c.1869+1372C>G (n.1869+1372C>G) c.3226C>G (p.Leu1076Val) c.3238C>G (p.Leu1080Val) c.3211C>G (p.Leu1071Val) c.3157C>G (p.Leu1053Val) c.2557C>G (p.Leu853Val) c.3505C>G (p.Leu1169Val) c.3502C>G (p.Leu1168Val) c.3421C>G (p.Leu1141Val) c.3352C>G (p.Leu1118Val) c.3220C>G (p.Leu1074Val) c.3088C>G (p.Leu1030Val) | |
20 | g.32435953C>T | CA510467150 | ASXL1 | c.3241C>T (p.Leu1081=) c.3058C>T (p.Leu1020=) n.5594C>T c.1869+1372C>T (n.1869+1372C>T) c.3226C>T (p.Leu1076=) c.3238C>T (p.Leu1080=) c.3211C>T (p.Leu1071=) c.3157C>T (p.Leu1053=) c.2557C>T (p.Leu853=) c.3505C>T (p.Leu1169=) c.3502C>T (p.Leu1168=) c.3421C>T (p.Leu1141=) c.3352C>T (p.Leu1118=) c.3220C>T (p.Leu1074=) c.3088C>T (p.Leu1030=) | dbSNP gnomAD v4 |
20 | g.32435956_32435958del | CA9808784 | ASXL1 | c.3244_3246del (p.Leu1082del) c.3061_3063del (p.Leu1021del) n.5597_5599del c.1869+1375_1869+1377del (n.1869+1375_1869+1377del) c.3229_3231del (p.Leu1077del) c.3241_3243del (p.Leu1081del) c.3214_3216del (p.Leu1072del) c.3160_3162del (p.Leu1054del) c.2560_2562del (p.Leu854del) c.3508_3510del (p.Leu1170del) c.3505_3507del (p.Leu1169del) c.3424_3426del (p.Leu1142del) c.3355_3357del (p.Leu1119del) c.3223_3225del (p.Leu1075del) c.3091_3093del (p.Leu1031del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.32435954T>A | CA408562646 | ASXL1 | c.3242T>A (p.Leu1081Gln) c.3059T>A (p.Leu1020Gln) n.5595T>A c.1869+1373T>A (n.1869+1373T>A) c.3227T>A (p.Leu1076Gln) c.3239T>A (p.Leu1080Gln) c.3212T>A (p.Leu1071Gln) c.3158T>A (p.Leu1053Gln) c.2558T>A (p.Leu853Gln) c.3506T>A (p.Leu1169Gln) c.3503T>A (p.Leu1168Gln) c.3422T>A (p.Leu1141Gln) c.3353T>A (p.Leu1118Gln) c.3221T>A (p.Leu1074Gln) c.3089T>A (p.Leu1030Gln) | |
20 | g.32435954T>C | CA408562647 | ASXL1 | c.3242T>C (p.Leu1081Pro) c.3059T>C (p.Leu1020Pro) n.5595T>C c.1869+1373T>C (n.1869+1373T>C) c.3227T>C (p.Leu1076Pro) c.3239T>C (p.Leu1080Pro) c.3212T>C (p.Leu1071Pro) c.3158T>C (p.Leu1053Pro) c.2558T>C (p.Leu853Pro) c.3506T>C (p.Leu1169Pro) c.3503T>C (p.Leu1168Pro) c.3422T>C (p.Leu1141Pro) c.3353T>C (p.Leu1118Pro) c.3221T>C (p.Leu1074Pro) c.3089T>C (p.Leu1030Pro) | gnomAD v4 |
20 | g.32435954T>G | CA408562648 | ASXL1 | c.3242T>G (p.Leu1081Arg) c.3059T>G (p.Leu1020Arg) n.5595T>G c.1869+1373T>G (n.1869+1373T>G) c.3227T>G (p.Leu1076Arg) c.3239T>G (p.Leu1080Arg) c.3212T>G (p.Leu1071Arg) c.3158T>G (p.Leu1053Arg) c.2558T>G (p.Leu853Arg) c.3506T>G (p.Leu1169Arg) c.3503T>G (p.Leu1168Arg) c.3422T>G (p.Leu1141Arg) c.3353T>G (p.Leu1118Arg) c.3221T>G (p.Leu1074Arg) c.3089T>G (p.Leu1030Arg) | |
20 | g.32435955G>A | CA510467154 | ASXL1 | c.3243G>A (p.Leu1081=) c.3060G>A (p.Leu1020=) n.5596G>A c.1869+1374G>A (n.1869+1374G>A) c.3228G>A (p.Leu1076=) c.3240G>A (p.Leu1080=) c.3213G>A (p.Leu1071=) c.3159G>A (p.Leu1053=) c.2559G>A (p.Leu853=) c.3507G>A (p.Leu1169=) c.3504G>A (p.Leu1168=) c.3423G>A (p.Leu1141=) c.3354G>A (p.Leu1118=) c.3222G>A (p.Leu1074=) c.3090G>A (p.Leu1030=) | dbSNP |
20 | g.32435955G>C | CA313926341 | ASXL1 | c.3243G>C (p.Leu1081=) c.3060G>C (p.Leu1020=) n.5596G>C c.1869+1374G>C (n.1869+1374G>C) c.3228G>C (p.Leu1076=) c.3240G>C (p.Leu1080=) c.3213G>C (p.Leu1071=) c.3159G>C (p.Leu1053=) c.2559G>C (p.Leu853=) c.3507G>C (p.Leu1169=) c.3504G>C (p.Leu1168=) c.3423G>C (p.Leu1141=) c.3354G>C (p.Leu1118=) c.3222G>C (p.Leu1074=) c.3090G>C (p.Leu1030=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32435955G= | CA2360293475 | ASXL1 | c.3243G= (p.Leu1081=) c.3060G= (p.Leu1020=) n.5596G= c.1869+1374G= (n.1869+1374G=) c.3228G= (p.Leu1076=) c.3240G= (p.Leu1080=) c.3213G= (p.Leu1071=) c.3159G= (p.Leu1053=) c.2559G= (p.Leu853=) c.3507G= (p.Leu1169=) c.3504G= (p.Leu1168=) c.3423G= (p.Leu1141=) c.3354G= (p.Leu1118=) c.3222G= (p.Leu1074=) c.3090G= (p.Leu1030=) | |
20 | g.32435955G>T | CA510467155 | ASXL1 | c.3243G>T (p.Leu1081=) c.3060G>T (p.Leu1020=) n.5596G>T c.1869+1374G>T (n.1869+1374G>T) c.3228G>T (p.Leu1076=) c.3240G>T (p.Leu1080=) c.3213G>T (p.Leu1071=) c.3159G>T (p.Leu1053=) c.2559G>T (p.Leu853=) c.3507G>T (p.Leu1169=) c.3504G>T (p.Leu1168=) c.3423G>T (p.Leu1141=) c.3354G>T (p.Leu1118=) c.3222G>T (p.Leu1074=) c.3090G>T (p.Leu1030=) | |
20 | g.32435956C>A | CA408562649 | ASXL1 | c.3244C>A (p.Leu1082Met) c.3061C>A (p.Leu1021Met) n.5597C>A c.1869+1375C>A (n.1869+1375C>A) c.3229C>A (p.Leu1077Met) c.3241C>A (p.Leu1081Met) c.3214C>A (p.Leu1072Met) c.3160C>A (p.Leu1054Met) c.2560C>A (p.Leu854Met) c.3508C>A (p.Leu1170Met) c.3505C>A (p.Leu1169Met) c.3424C>A (p.Leu1142Met) c.3355C>A (p.Leu1119Met) c.3223C>A (p.Leu1075Met) c.3091C>A (p.Leu1031Met) | dbSNP |
20 | g.32435956C= | CA2360293476 | ASXL1 | c.3244C= (p.Leu1082=) c.3061C= (p.Leu1021=) n.5597C= c.1869+1375C= (n.1869+1375C=) c.3229C= (p.Leu1077=) c.3241C= (p.Leu1081=) c.3214C= (p.Leu1072=) c.3160C= (p.Leu1054=) c.2560C= (p.Leu854=) c.3508C= (p.Leu1170=) c.3505C= (p.Leu1169=) c.3424C= (p.Leu1142=) c.3355C= (p.Leu1119=) c.3223C= (p.Leu1075=) c.3091C= (p.Leu1031=) | |
20 | g.32435956C>G | CA408562650 | ASXL1 | c.3244C>G (p.Leu1082Val) c.3061C>G (p.Leu1021Val) n.5597C>G c.1869+1375C>G (n.1869+1375C>G) c.3229C>G (p.Leu1077Val) c.3241C>G (p.Leu1081Val) c.3214C>G (p.Leu1072Val) c.3160C>G (p.Leu1054Val) c.2560C>G (p.Leu854Val) c.3508C>G (p.Leu1170Val) c.3505C>G (p.Leu1169Val) c.3424C>G (p.Leu1142Val) c.3355C>G (p.Leu1119Val) c.3223C>G (p.Leu1075Val) c.3091C>G (p.Leu1031Val) | |
20 | g.32435956C>T | CA510467156 | ASXL1 | c.3244C>T (p.Leu1082=) c.3061C>T (p.Leu1021=) n.5597C>T c.1869+1375C>T (n.1869+1375C>T) c.3229C>T (p.Leu1077=) c.3241C>T (p.Leu1081=) c.3214C>T (p.Leu1072=) c.3160C>T (p.Leu1054=) c.2560C>T (p.Leu854=) c.3508C>T (p.Leu1170=) c.3505C>T (p.Leu1169=) c.3424C>T (p.Leu1142=) c.3355C>T (p.Leu1119=) c.3223C>T (p.Leu1075=) c.3091C>T (p.Leu1031=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.32435957T>A | CA408562653 | ASXL1 | c.3245T>A (p.Leu1082Gln) c.3062T>A (p.Leu1021Gln) n.5598T>A c.1869+1376T>A (n.1869+1376T>A) c.3230T>A (p.Leu1077Gln) c.3242T>A (p.Leu1081Gln) c.3215T>A (p.Leu1072Gln) c.3161T>A (p.Leu1054Gln) c.2561T>A (p.Leu854Gln) c.3509T>A (p.Leu1170Gln) c.3506T>A (p.Leu1169Gln) c.3425T>A (p.Leu1142Gln) c.3356T>A (p.Leu1119Gln) c.3224T>A (p.Leu1075Gln) c.3092T>A (p.Leu1031Gln) | |
20 | g.32435957T>C | CA408562652 | ASXL1 | c.3245T>C (p.Leu1082Pro) c.3062T>C (p.Leu1021Pro) n.5598T>C c.1869+1376T>C (n.1869+1376T>C) c.3230T>C (p.Leu1077Pro) c.3242T>C (p.Leu1081Pro) c.3215T>C (p.Leu1072Pro) c.3161T>C (p.Leu1054Pro) c.2561T>C (p.Leu854Pro) c.3509T>C (p.Leu1170Pro) c.3506T>C (p.Leu1169Pro) c.3425T>C (p.Leu1142Pro) c.3356T>C (p.Leu1119Pro) c.3224T>C (p.Leu1075Pro) c.3092T>C (p.Leu1031Pro) | |
20 | g.32435957T>G | CA408562651 | ASXL1 | c.3245T>G (p.Leu1082Arg) c.3062T>G (p.Leu1021Arg) n.5598T>G c.1869+1376T>G (n.1869+1376T>G) c.3230T>G (p.Leu1077Arg) c.3242T>G (p.Leu1081Arg) c.3215T>G (p.Leu1072Arg) c.3161T>G (p.Leu1054Arg) c.2561T>G (p.Leu854Arg) c.3509T>G (p.Leu1170Arg) c.3506T>G (p.Leu1169Arg) c.3425T>G (p.Leu1142Arg) c.3356T>G (p.Leu1119Arg) c.3224T>G (p.Leu1075Arg) c.3092T>G (p.Leu1031Arg) | |
20 | g.32435958G>A | CA510467160 | ASXL1 | c.3246G>A (p.Leu1082=) c.3063G>A (p.Leu1021=) n.5599G>A c.1869+1377G>A (n.1869+1377G>A) c.3231G>A (p.Leu1077=) c.3243G>A (p.Leu1081=) c.3216G>A (p.Leu1072=) c.3162G>A (p.Leu1054=) c.2562G>A (p.Leu854=) c.3510G>A (p.Leu1170=) c.3507G>A (p.Leu1169=) c.3426G>A (p.Leu1142=) c.3357G>A (p.Leu1119=) c.3225G>A (p.Leu1075=) c.3093G>A (p.Leu1031=) | |
20 | g.32435958G>C | CA510467161 | ASXL1 | c.3246G>C (p.Leu1082=) c.3063G>C (p.Leu1021=) n.5599G>C c.1869+1377G>C (n.1869+1377G>C) c.3231G>C (p.Leu1077=) c.3243G>C (p.Leu1081=) c.3216G>C (p.Leu1072=) c.3162G>C (p.Leu1054=) c.2562G>C (p.Leu854=) c.3510G>C (p.Leu1170=) c.3507G>C (p.Leu1169=) c.3426G>C (p.Leu1142=) c.3357G>C (p.Leu1119=) c.3225G>C (p.Leu1075=) c.3093G>C (p.Leu1031=) | |
20 | g.32435958G>T | CA510467162 | ASXL1 | c.3246G>T (p.Leu1082=) c.3063G>T (p.Leu1021=) n.5599G>T c.1869+1377G>T (n.1869+1377G>T) c.3231G>T (p.Leu1077=) c.3243G>T (p.Leu1081=) c.3216G>T (p.Leu1072=) c.3162G>T (p.Leu1054=) c.2562G>T (p.Leu854=) c.3510G>T (p.Leu1170=) c.3507G>T (p.Leu1169=) c.3426G>T (p.Leu1142=) c.3357G>T (p.Leu1119=) c.3225G>T (p.Leu1075=) c.3093G>T (p.Leu1031=) | |
20 | g.32435959G>A | CA408562654 | ASXL1 | c.3247G>A (p.Ala1083Thr) c.3064G>A (p.Ala1022Thr) n.5600G>A c.1869+1378G>A (n.1869+1378G>A) c.3232G>A (p.Ala1078Thr) c.3244G>A (p.Ala1082Thr) c.3217G>A (p.Ala1073Thr) c.3163G>A (p.Ala1055Thr) c.2563G>A (p.Ala855Thr) c.3511G>A (p.Ala1171Thr) c.3508G>A (p.Ala1170Thr) c.3427G>A (p.Ala1143Thr) c.3358G>A (p.Ala1120Thr) c.3226G>A (p.Ala1076Thr) c.3094G>A (p.Ala1032Thr) | |
20 | g.32435959G>C | CA408562656 | ASXL1 | c.3247G>C (p.Ala1083Pro) c.3064G>C (p.Ala1022Pro) n.5600G>C c.1869+1378G>C (n.1869+1378G>C) c.3232G>C (p.Ala1078Pro) c.3244G>C (p.Ala1082Pro) c.3217G>C (p.Ala1073Pro) c.3163G>C (p.Ala1055Pro) c.2563G>C (p.Ala855Pro) c.3511G>C (p.Ala1171Pro) c.3508G>C (p.Ala1170Pro) c.3427G>C (p.Ala1143Pro) c.3358G>C (p.Ala1120Pro) c.3226G>C (p.Ala1076Pro) c.3094G>C (p.Ala1032Pro) | dbSNP |
20 | g.32435959G>T | CA408562655 | ASXL1 | c.3247G>T (p.Ala1083Ser) c.3064G>T (p.Ala1022Ser) n.5600G>T c.1869+1378G>T (n.1869+1378G>T) c.3232G>T (p.Ala1078Ser) c.3244G>T (p.Ala1082Ser) c.3217G>T (p.Ala1073Ser) c.3163G>T (p.Ala1055Ser) c.2563G>T (p.Ala855Ser) c.3511G>T (p.Ala1171Ser) c.3508G>T (p.Ala1170Ser) c.3427G>T (p.Ala1143Ser) c.3358G>T (p.Ala1120Ser) c.3226G>T (p.Ala1076Ser) c.3094G>T (p.Ala1032Ser) | |
20 | g.32435960C>A | CA408562657 | ASXL1 | c.3248C>A (p.Ala1083Asp) c.3065C>A (p.Ala1022Asp) n.5601C>A c.1869+1379C>A (n.1869+1379C>A) c.3233C>A (p.Ala1078Asp) c.3245C>A (p.Ala1082Asp) c.3218C>A (p.Ala1073Asp) c.3164C>A (p.Ala1055Asp) c.2564C>A (p.Ala855Asp) c.3512C>A (p.Ala1171Asp) c.3509C>A (p.Ala1170Asp) c.3428C>A (p.Ala1143Asp) c.3359C>A (p.Ala1120Asp) c.3227C>A (p.Ala1076Asp) c.3095C>A (p.Ala1032Asp) | |
20 | g.32435960C>G | CA408562658 | ASXL1 | c.3248C>G (p.Ala1083Gly) c.3065C>G (p.Ala1022Gly) n.5601C>G c.1869+1379C>G (n.1869+1379C>G) c.3233C>G (p.Ala1078Gly) c.3245C>G (p.Ala1082Gly) c.3218C>G (p.Ala1073Gly) c.3164C>G (p.Ala1055Gly) c.2564C>G (p.Ala855Gly) c.3512C>G (p.Ala1171Gly) c.3509C>G (p.Ala1170Gly) c.3428C>G (p.Ala1143Gly) c.3359C>G (p.Ala1120Gly) c.3227C>G (p.Ala1076Gly) c.3095C>G (p.Ala1032Gly) | |
20 | g.32435960C>T | CA408562659 | ASXL1 | c.3248C>T (p.Ala1083Val) c.3065C>T (p.Ala1022Val) n.5601C>T c.1869+1379C>T (n.1869+1379C>T) c.3233C>T (p.Ala1078Val) c.3245C>T (p.Ala1082Val) c.3218C>T (p.Ala1073Val) c.3164C>T (p.Ala1055Val) c.2564C>T (p.Ala855Val) c.3512C>T (p.Ala1171Val) c.3509C>T (p.Ala1170Val) c.3428C>T (p.Ala1143Val) c.3359C>T (p.Ala1120Val) c.3227C>T (p.Ala1076Val) c.3095C>T (p.Ala1032Val) | dbSNP gnomAD v4 |
20 | g.32435961C>A | CA510467163 | ASXL1 | c.3249C>A (p.Ala1083=) c.3066C>A (p.Ala1022=) n.5602C>A c.1869+1380C>A (n.1869+1380C>A) c.3234C>A (p.Ala1078=) c.3246C>A (p.Ala1082=) c.3219C>A (p.Ala1073=) c.3165C>A (p.Ala1055=) c.2565C>A (p.Ala855=) c.3513C>A (p.Ala1171=) c.3510C>A (p.Ala1170=) c.3429C>A (p.Ala1143=) c.3360C>A (p.Ala1120=) c.3228C>A (p.Ala1076=) c.3096C>A (p.Ala1032=) | |
20 | g.32435961C>G | CA510467164 | ASXL1 | c.3249C>G (p.Ala1083=) c.3066C>G (p.Ala1022=) n.5602C>G c.1869+1380C>G (n.1869+1380C>G) c.3234C>G (p.Ala1078=) c.3246C>G (p.Ala1082=) c.3219C>G (p.Ala1073=) c.3165C>G (p.Ala1055=) c.2565C>G (p.Ala855=) c.3513C>G (p.Ala1171=) c.3510C>G (p.Ala1170=) c.3429C>G (p.Ala1143=) c.3360C>G (p.Ala1120=) c.3228C>G (p.Ala1076=) c.3096C>G (p.Ala1032=) | |
20 | g.32435961C>T | CA510467166 | ASXL1 | c.3249C>T (p.Ala1083=) c.3066C>T (p.Ala1022=) n.5602C>T c.1869+1380C>T (n.1869+1380C>T) c.3234C>T (p.Ala1078=) c.3246C>T (p.Ala1082=) c.3219C>T (p.Ala1073=) c.3165C>T (p.Ala1055=) c.2565C>T (p.Ala855=) c.3513C>T (p.Ala1171=) c.3510C>T (p.Ala1170=) c.3429C>T (p.Ala1143=) c.3360C>T (p.Ala1120=) c.3228C>T (p.Ala1076=) c.3096C>T (p.Ala1032=) | |
20 | g.32435962A>C | CA408562660 | ASXL1 | c.3250A>C (p.Ser1084Arg) c.3067A>C (p.Ser1023Arg) n.5603A>C c.1869+1381A>C (n.1869+1381A>C) c.3235A>C (p.Ser1079Arg) c.3247A>C (p.Ser1083Arg) c.3220A>C (p.Ser1074Arg) c.3166A>C (p.Ser1056Arg) c.2566A>C (p.Ser856Arg) c.3514A>C (p.Ser1172Arg) c.3511A>C (p.Ser1171Arg) c.3430A>C (p.Ser1144Arg) c.3361A>C (p.Ser1121Arg) c.3229A>C (p.Ser1077Arg) c.3097A>C (p.Ser1033Arg) | |
20 | g.32435962A>G | CA408562661 | ASXL1 | c.3250A>G (p.Ser1084Gly) c.3067A>G (p.Ser1023Gly) n.5603A>G c.1869+1381A>G (n.1869+1381A>G) c.3235A>G (p.Ser1079Gly) c.3247A>G (p.Ser1083Gly) c.3220A>G (p.Ser1074Gly) c.3166A>G (p.Ser1056Gly) c.2566A>G (p.Ser856Gly) c.3514A>G (p.Ser1172Gly) c.3511A>G (p.Ser1171Gly) c.3430A>G (p.Ser1144Gly) c.3361A>G (p.Ser1121Gly) c.3229A>G (p.Ser1077Gly) c.3097A>G (p.Ser1033Gly) | |
20 | g.32435962A>T | CA408562662 | ASXL1 | c.3250A>T (p.Ser1084Cys) c.3067A>T (p.Ser1023Cys) n.5603A>T c.1869+1381A>T (n.1869+1381A>T) c.3235A>T (p.Ser1079Cys) c.3247A>T (p.Ser1083Cys) c.3220A>T (p.Ser1074Cys) c.3166A>T (p.Ser1056Cys) c.2566A>T (p.Ser856Cys) c.3514A>T (p.Ser1172Cys) c.3511A>T (p.Ser1171Cys) c.3430A>T (p.Ser1144Cys) c.3361A>T (p.Ser1121Cys) c.3229A>T (p.Ser1077Cys) c.3097A>T (p.Ser1033Cys) | |
20 | g.32435963G>A | CA408562663 | ASXL1 | c.3251G>A (p.Ser1084Asn) c.3068G>A (p.Ser1023Asn) n.5604G>A c.1869+1382G>A (n.1869+1382G>A) c.3236G>A (p.Ser1079Asn) c.3248G>A (p.Ser1083Asn) c.3221G>A (p.Ser1074Asn) c.3167G>A (p.Ser1056Asn) c.2567G>A (p.Ser856Asn) c.3515G>A (p.Ser1172Asn) c.3512G>A (p.Ser1171Asn) c.3431G>A (p.Ser1144Asn) c.3362G>A (p.Ser1121Asn) c.3230G>A (p.Ser1077Asn) c.3098G>A (p.Ser1033Asn) | dbSNP gnomAD v4 COSMIC COSMIC |
20 | g.32435963G>C | CA408562664 | ASXL1 | c.3251G>C (p.Ser1084Thr) c.3068G>C (p.Ser1023Thr) n.5604G>C c.1869+1382G>C (n.1869+1382G>C) c.3236G>C (p.Ser1079Thr) c.3248G>C (p.Ser1083Thr) c.3221G>C (p.Ser1074Thr) c.3167G>C (p.Ser1056Thr) c.2567G>C (p.Ser856Thr) c.3515G>C (p.Ser1172Thr) c.3512G>C (p.Ser1171Thr) c.3431G>C (p.Ser1144Thr) c.3362G>C (p.Ser1121Thr) c.3230G>C (p.Ser1077Thr) c.3098G>C (p.Ser1033Thr) | |
20 | g.32435963G= | CA2360293477 | ASXL1 | c.3251G= (p.Ser1084=) c.3068G= (p.Ser1023=) n.5604G= c.1869+1382G= (n.1869+1382G=) c.3236G= (p.Ser1079=) c.3248G= (p.Ser1083=) c.3221G= (p.Ser1074=) c.3167G= (p.Ser1056=) c.2567G= (p.Ser856=) c.3515G= (p.Ser1172=) c.3512G= (p.Ser1171=) c.3431G= (p.Ser1144=) c.3362G= (p.Ser1121=) c.3230G= (p.Ser1077=) c.3098G= (p.Ser1033=) | |
20 | g.32435963G>T | CA408562665 | ASXL1 | c.3251G>T (p.Ser1084Ile) c.3068G>T (p.Ser1023Ile) n.5604G>T c.1869+1382G>T (n.1869+1382G>T) c.3236G>T (p.Ser1079Ile) c.3248G>T (p.Ser1083Ile) c.3221G>T (p.Ser1074Ile) c.3167G>T (p.Ser1056Ile) c.2567G>T (p.Ser856Ile) c.3515G>T (p.Ser1172Ile) c.3512G>T (p.Ser1171Ile) c.3431G>T (p.Ser1144Ile) c.3362G>T (p.Ser1121Ile) c.3230G>T (p.Ser1077Ile) c.3098G>T (p.Ser1033Ile) | |
20 | g.32435964T>A | CA408562666 | ASXL1 | c.3252T>A (p.Ser1084Arg) c.3069T>A (p.Ser1023Arg) n.5605T>A c.1869+1383T>A (n.1869+1383T>A) c.3237T>A (p.Ser1079Arg) c.3249T>A (p.Ser1083Arg) c.3222T>A (p.Ser1074Arg) c.3168T>A (p.Ser1056Arg) c.2568T>A (p.Ser856Arg) c.3516T>A (p.Ser1172Arg) c.3513T>A (p.Ser1171Arg) c.3432T>A (p.Ser1144Arg) c.3363T>A (p.Ser1121Arg) c.3231T>A (p.Ser1077Arg) c.3099T>A (p.Ser1033Arg) | |
20 | g.32435964T>C | CA510467170 | ASXL1 | c.3252T>C (p.Ser1084=) c.3069T>C (p.Ser1023=) n.5605T>C c.1869+1383T>C (n.1869+1383T>C) c.3237T>C (p.Ser1079=) c.3249T>C (p.Ser1083=) c.3222T>C (p.Ser1074=) c.3168T>C (p.Ser1056=) c.2568T>C (p.Ser856=) c.3516T>C (p.Ser1172=) c.3513T>C (p.Ser1171=) c.3432T>C (p.Ser1144=) c.3363T>C (p.Ser1121=) c.3231T>C (p.Ser1077=) c.3099T>C (p.Ser1033=) | |
20 | g.32435964T>G | CA408562667 | ASXL1 | c.3252T>G (p.Ser1084Arg) c.3069T>G (p.Ser1023Arg) n.5605T>G c.1869+1383T>G (n.1869+1383T>G) c.3237T>G (p.Ser1079Arg) c.3249T>G (p.Ser1083Arg) c.3222T>G (p.Ser1074Arg) c.3168T>G (p.Ser1056Arg) c.2568T>G (p.Ser856Arg) c.3516T>G (p.Ser1172Arg) c.3513T>G (p.Ser1171Arg) c.3432T>G (p.Ser1144Arg) c.3363T>G (p.Ser1121Arg) c.3231T>G (p.Ser1077Arg) c.3099T>G (p.Ser1033Arg) | |
20 | g.32435965A>C | CA408562670 | ASXL1 | c.3253A>C (p.Thr1085Pro) c.3070A>C (p.Thr1024Pro) n.5606A>C c.1869+1384A>C (n.1869+1384A>C) c.3238A>C (p.Thr1080Pro) c.3250A>C (p.Thr1084Pro) c.3223A>C (p.Thr1075Pro) c.3169A>C (p.Thr1057Pro) c.2569A>C (p.Thr857Pro) c.3517A>C (p.Thr1173Pro) c.3514A>C (p.Thr1172Pro) c.3433A>C (p.Thr1145Pro) c.3364A>C (p.Thr1122Pro) c.3232A>C (p.Thr1078Pro) c.3100A>C (p.Thr1034Pro) | |
20 | g.32435965A>G | CA408562668 | ASXL1 | c.3253A>G (p.Thr1085Ala) c.3070A>G (p.Thr1024Ala) n.5606A>G c.1869+1384A>G (n.1869+1384A>G) c.3238A>G (p.Thr1080Ala) c.3250A>G (p.Thr1084Ala) c.3223A>G (p.Thr1075Ala) c.3169A>G (p.Thr1057Ala) c.2569A>G (p.Thr857Ala) c.3517A>G (p.Thr1173Ala) c.3514A>G (p.Thr1172Ala) c.3433A>G (p.Thr1145Ala) c.3364A>G (p.Thr1122Ala) c.3232A>G (p.Thr1078Ala) c.3100A>G (p.Thr1034Ala) | |
20 | g.32435965A>T | CA408562669 | ASXL1 | c.3253A>T (p.Thr1085Ser) c.3070A>T (p.Thr1024Ser) n.5606A>T c.1869+1384A>T (n.1869+1384A>T) c.3238A>T (p.Thr1080Ser) c.3250A>T (p.Thr1084Ser) c.3223A>T (p.Thr1075Ser) c.3169A>T (p.Thr1057Ser) c.2569A>T (p.Thr857Ser) c.3517A>T (p.Thr1173Ser) c.3514A>T (p.Thr1172Ser) c.3433A>T (p.Thr1145Ser) c.3364A>T (p.Thr1122Ser) c.3232A>T (p.Thr1078Ser) c.3100A>T (p.Thr1034Ser) | |
20 | g.32435966C>A | CA408562671 | ASXL1 | c.3254C>A (p.Thr1085Asn) c.3071C>A (p.Thr1024Asn) n.5607C>A c.1869+1385C>A (n.1869+1385C>A) c.3239C>A (p.Thr1080Asn) c.3251C>A (p.Thr1084Asn) c.3224C>A (p.Thr1075Asn) c.3170C>A (p.Thr1057Asn) c.2570C>A (p.Thr857Asn) c.3518C>A (p.Thr1173Asn) c.3515C>A (p.Thr1172Asn) c.3434C>A (p.Thr1145Asn) c.3365C>A (p.Thr1122Asn) c.3233C>A (p.Thr1078Asn) c.3101C>A (p.Thr1034Asn) | |
20 | g.32435966C>G | CA408562672 | ASXL1 | c.3254C>G (p.Thr1085Ser) c.3071C>G (p.Thr1024Ser) n.5607C>G c.1869+1385C>G (n.1869+1385C>G) c.3239C>G (p.Thr1080Ser) c.3251C>G (p.Thr1084Ser) c.3224C>G (p.Thr1075Ser) c.3170C>G (p.Thr1057Ser) c.2570C>G (p.Thr857Ser) c.3518C>G (p.Thr1173Ser) c.3515C>G (p.Thr1172Ser) c.3434C>G (p.Thr1145Ser) c.3365C>G (p.Thr1122Ser) c.3233C>G (p.Thr1078Ser) c.3101C>G (p.Thr1034Ser) | |
20 | g.32435966C>T | CA408562673 | ASXL1 | c.3254C>T (p.Thr1085Ile) c.3071C>T (p.Thr1024Ile) n.5607C>T c.1869+1385C>T (n.1869+1385C>T) c.3239C>T (p.Thr1080Ile) c.3251C>T (p.Thr1084Ile) c.3224C>T (p.Thr1075Ile) c.3170C>T (p.Thr1057Ile) c.2570C>T (p.Thr857Ile) c.3518C>T (p.Thr1173Ile) c.3515C>T (p.Thr1172Ile) c.3434C>T (p.Thr1145Ile) c.3365C>T (p.Thr1122Ile) c.3233C>T (p.Thr1078Ile) c.3101C>T (p.Thr1034Ile) | dbSNP |
20 | g.32435967T>A | CA510467176 | ASXL1 | c.3255T>A (p.Thr1085=) c.3072T>A (p.Thr1024=) n.5608T>A c.1869+1386T>A (n.1869+1386T>A) c.3240T>A (p.Thr1080=) c.3252T>A (p.Thr1084=) c.3225T>A (p.Thr1075=) c.3171T>A (p.Thr1057=) c.2571T>A (p.Thr857=) c.3519T>A (p.Thr1173=) c.3516T>A (p.Thr1172=) c.3435T>A (p.Thr1145=) c.3366T>A (p.Thr1122=) c.3234T>A (p.Thr1078=) c.3102T>A (p.Thr1034=) | |
20 | g.32435967T>C | CA510467177 | ASXL1 | c.3255T>C (p.Thr1085=) c.3072T>C (p.Thr1024=) n.5608T>C c.1869+1386T>C (n.1869+1386T>C) c.3240T>C (p.Thr1080=) c.3252T>C (p.Thr1084=) c.3225T>C (p.Thr1075=) c.3171T>C (p.Thr1057=) c.2571T>C (p.Thr857=) c.3519T>C (p.Thr1173=) c.3516T>C (p.Thr1172=) c.3435T>C (p.Thr1145=) c.3366T>C (p.Thr1122=) c.3234T>C (p.Thr1078=) c.3102T>C (p.Thr1034=) | |
20 | g.32435967T>G | CA510467178 | ASXL1 | c.3255T>G (p.Thr1085=) c.3072T>G (p.Thr1024=) n.5608T>G c.1869+1386T>G (n.1869+1386T>G) c.3240T>G (p.Thr1080=) c.3252T>G (p.Thr1084=) c.3225T>G (p.Thr1075=) c.3171T>G (p.Thr1057=) c.2571T>G (p.Thr857=) c.3519T>G (p.Thr1173=) c.3516T>G (p.Thr1172=) c.3435T>G (p.Thr1145=) c.3366T>G (p.Thr1122=) c.3234T>G (p.Thr1078=) c.3102T>G (p.Thr1034=) | |
20 | g.32435968G>A | CA408562674 | ASXL1 | c.3256G>A (p.Glu1086Lys) c.3073G>A (p.Glu1025Lys) n.5609G>A c.1869+1387G>A (n.1869+1387G>A) c.3241G>A (p.Glu1081Lys) c.3253G>A (p.Glu1085Lys) c.3226G>A (p.Glu1076Lys) c.3172G>A (p.Glu1058Lys) c.2572G>A (p.Glu858Lys) c.3520G>A (p.Glu1174Lys) c.3517G>A (p.Glu1173Lys) c.3436G>A (p.Glu1146Lys) c.3367G>A (p.Glu1123Lys) c.3235G>A (p.Glu1079Lys) c.3103G>A (p.Glu1035Lys) | |
20 | g.32435968G>C | CA408562675 | ASXL1 | c.3256G>C (p.Glu1086Gln) c.3073G>C (p.Glu1025Gln) n.5609G>C c.1869+1387G>C (n.1869+1387G>C) c.3241G>C (p.Glu1081Gln) c.3253G>C (p.Glu1085Gln) c.3226G>C (p.Glu1076Gln) c.3172G>C (p.Glu1058Gln) c.2572G>C (p.Glu858Gln) c.3520G>C (p.Glu1174Gln) c.3517G>C (p.Glu1173Gln) c.3436G>C (p.Glu1146Gln) c.3367G>C (p.Glu1123Gln) c.3235G>C (p.Glu1079Gln) c.3103G>C (p.Glu1035Gln) | |
20 | g.32435968G>T | CA408562676 | ASXL1 | c.3256G>T (p.Glu1086Ter) c.3073G>T (p.Glu1025Ter) n.5609G>T c.1869+1387G>T (n.1869+1387G>T) c.3241G>T (p.Glu1081Ter) c.3253G>T (p.Glu1085Ter) c.3226G>T (p.Glu1076Ter) c.3172G>T (p.Glu1058Ter) c.2572G>T (p.Glu858Ter) c.3520G>T (p.Glu1174Ter) c.3517G>T (p.Glu1173Ter) c.3436G>T (p.Glu1146Ter) c.3367G>T (p.Glu1123Ter) c.3235G>T (p.Glu1079Ter) c.3103G>T (p.Glu1035Ter) | |
20 | g.32435969A>C | CA408562677 | ASXL1 | c.3257A>C (p.Glu1086Ala) c.3074A>C (p.Glu1025Ala) n.5610A>C c.1869+1388A>C (n.1869+1388A>C) c.3242A>C (p.Glu1081Ala) c.3254A>C (p.Glu1085Ala) c.3227A>C (p.Glu1076Ala) c.3173A>C (p.Glu1058Ala) c.2573A>C (p.Glu858Ala) c.3521A>C (p.Glu1174Ala) c.3518A>C (p.Glu1173Ala) c.3437A>C (p.Glu1146Ala) c.3368A>C (p.Glu1123Ala) c.3236A>C (p.Glu1079Ala) c.3104A>C (p.Glu1035Ala) | |
20 | g.32435969A>G | CA408562678 | ASXL1 | c.3257A>G (p.Glu1086Gly) c.3074A>G (p.Glu1025Gly) n.5610A>G c.1869+1388A>G (n.1869+1388A>G) c.3242A>G (p.Glu1081Gly) c.3254A>G (p.Glu1085Gly) c.3227A>G (p.Glu1076Gly) c.3173A>G (p.Glu1058Gly) c.2573A>G (p.Glu858Gly) c.3521A>G (p.Glu1174Gly) c.3518A>G (p.Glu1173Gly) c.3437A>G (p.Glu1146Gly) c.3368A>G (p.Glu1123Gly) c.3236A>G (p.Glu1079Gly) c.3104A>G (p.Glu1035Gly) | |
20 | g.32435969A>T | CA408562679 | ASXL1 | c.3257A>T (p.Glu1086Val) c.3074A>T (p.Glu1025Val) n.5610A>T c.1869+1388A>T (n.1869+1388A>T) c.3242A>T (p.Glu1081Val) c.3254A>T (p.Glu1085Val) c.3227A>T (p.Glu1076Val) c.3173A>T (p.Glu1058Val) c.2573A>T (p.Glu858Val) c.3521A>T (p.Glu1174Val) c.3518A>T (p.Glu1173Val) c.3437A>T (p.Glu1146Val) c.3368A>T (p.Glu1123Val) c.3236A>T (p.Glu1079Val) c.3104A>T (p.Glu1035Val) | |
20 | g.32435970G>A | CA510467183 | ASXL1 | c.3258G>A (p.Glu1086=) c.3075G>A (p.Glu1025=) n.5611G>A c.1869+1389G>A (n.1869+1389G>A) c.3243G>A (p.Glu1081=) c.3255G>A (p.Glu1085=) c.3228G>A (p.Glu1076=) c.3174G>A (p.Glu1058=) c.2574G>A (p.Glu858=) c.3522G>A (p.Glu1174=) c.3519G>A (p.Glu1173=) c.3438G>A (p.Glu1146=) c.3369G>A (p.Glu1123=) c.3237G>A (p.Glu1079=) c.3105G>A (p.Glu1035=) | dbSNP |
20 | g.32435970G>C | CA408562680 | ASXL1 | c.3258G>C (p.Glu1086Asp) c.3075G>C (p.Glu1025Asp) n.5611G>C c.1869+1389G>C (n.1869+1389G>C) c.3243G>C (p.Glu1081Asp) c.3255G>C (p.Glu1085Asp) c.3228G>C (p.Glu1076Asp) c.3174G>C (p.Glu1058Asp) c.2574G>C (p.Glu858Asp) c.3522G>C (p.Glu1174Asp) c.3519G>C (p.Glu1173Asp) c.3438G>C (p.Glu1146Asp) c.3369G>C (p.Glu1123Asp) c.3237G>C (p.Glu1079Asp) c.3105G>C (p.Glu1035Asp) | gnomAD v4 |
20 | g.32435970G>T | CA408562681 | ASXL1 | c.3258G>T (p.Glu1086Asp) c.3075G>T (p.Glu1025Asp) n.5611G>T c.1869+1389G>T (n.1869+1389G>T) c.3243G>T (p.Glu1081Asp) c.3255G>T (p.Glu1085Asp) c.3228G>T (p.Glu1076Asp) c.3174G>T (p.Glu1058Asp) c.2574G>T (p.Glu858Asp) c.3522G>T (p.Glu1174Asp) c.3519G>T (p.Glu1173Asp) c.3438G>T (p.Glu1146Asp) c.3369G>T (p.Glu1123Asp) c.3237G>T (p.Glu1079Asp) c.3105G>T (p.Glu1035Asp) | |
20 | g.32435971T>A | CA408562684 | ASXL1 | c.3259T>A (p.Tyr1087Asn) c.3076T>A (p.Tyr1026Asn) n.5612T>A c.1869+1390T>A (n.1869+1390T>A) c.3244T>A (p.Tyr1082Asn) c.3256T>A (p.Tyr1086Asn) c.3229T>A (p.Tyr1077Asn) c.3175T>A (p.Tyr1059Asn) c.2575T>A (p.Tyr859Asn) c.3523T>A (p.Tyr1175Asn) c.3520T>A (p.Tyr1174Asn) c.3439T>A (p.Tyr1147Asn) c.3370T>A (p.Tyr1124Asn) c.3238T>A (p.Tyr1080Asn) c.3106T>A (p.Tyr1036Asn) | |
20 | g.32435971T>C | CA408562683 | ASXL1 | c.3259T>C (p.Tyr1087His) c.3076T>C (p.Tyr1026His) n.5612T>C c.1869+1390T>C (n.1869+1390T>C) c.3244T>C (p.Tyr1082His) c.3256T>C (p.Tyr1086His) c.3229T>C (p.Tyr1077His) c.3175T>C (p.Tyr1059His) c.2575T>C (p.Tyr859His) c.3523T>C (p.Tyr1175His) c.3520T>C (p.Tyr1174His) c.3439T>C (p.Tyr1147His) c.3370T>C (p.Tyr1124His) c.3238T>C (p.Tyr1080His) c.3106T>C (p.Tyr1036His) | COSMIC |
20 | g.32435971T>G | CA408562682 | ASXL1 | c.3259T>G (p.Tyr1087Asp) c.3076T>G (p.Tyr1026Asp) n.5612T>G c.1869+1390T>G (n.1869+1390T>G) c.3244T>G (p.Tyr1082Asp) c.3256T>G (p.Tyr1086Asp) c.3229T>G (p.Tyr1077Asp) c.3175T>G (p.Tyr1059Asp) c.2575T>G (p.Tyr859Asp) c.3523T>G (p.Tyr1175Asp) c.3520T>G (p.Tyr1174Asp) c.3439T>G (p.Tyr1147Asp) c.3370T>G (p.Tyr1124Asp) c.3238T>G (p.Tyr1080Asp) c.3106T>G (p.Tyr1036Asp) | |
20 | g.32435972A= | CA2360293478 | ASXL1 | c.3260A= (p.Tyr1087=) c.3077A= (p.Tyr1026=) n.5613A= c.1869+1391A= (n.1869+1391A=) c.3245A= (p.Tyr1082=) c.3257A= (p.Tyr1086=) c.3230A= (p.Tyr1077=) c.3176A= (p.Tyr1059=) c.2576A= (p.Tyr859=) c.3524A= (p.Tyr1175=) c.3521A= (p.Tyr1174=) c.3440A= (p.Tyr1147=) c.3371A= (p.Tyr1124=) c.3239A= (p.Tyr1080=) c.3107A= (p.Tyr1036=) | |
20 | g.32435972A>C | CA408562687 | ASXL1 | c.3260A>C (p.Tyr1087Ser) c.3077A>C (p.Tyr1026Ser) n.5613A>C c.1869+1391A>C (n.1869+1391A>C) c.3245A>C (p.Tyr1082Ser) c.3257A>C (p.Tyr1086Ser) c.3230A>C (p.Tyr1077Ser) c.3176A>C (p.Tyr1059Ser) c.2576A>C (p.Tyr859Ser) c.3524A>C (p.Tyr1175Ser) c.3521A>C (p.Tyr1174Ser) c.3440A>C (p.Tyr1147Ser) c.3371A>C (p.Tyr1124Ser) c.3239A>C (p.Tyr1080Ser) c.3107A>C (p.Tyr1036Ser) | dbSNP |
20 | g.32435972A>G | CA408562685 | ASXL1 | c.3260A>G (p.Tyr1087Cys) c.3077A>G (p.Tyr1026Cys) n.5613A>G c.1869+1391A>G (n.1869+1391A>G) c.3245A>G (p.Tyr1082Cys) c.3257A>G (p.Tyr1086Cys) c.3230A>G (p.Tyr1077Cys) c.3176A>G (p.Tyr1059Cys) c.2576A>G (p.Tyr859Cys) c.3524A>G (p.Tyr1175Cys) c.3521A>G (p.Tyr1174Cys) c.3440A>G (p.Tyr1147Cys) c.3371A>G (p.Tyr1124Cys) c.3239A>G (p.Tyr1080Cys) c.3107A>G (p.Tyr1036Cys) | |
20 | g.32435972A>T | CA408562686 | ASXL1 | c.3260A>T (p.Tyr1087Phe) c.3077A>T (p.Tyr1026Phe) n.5613A>T c.1869+1391A>T (n.1869+1391A>T) c.3245A>T (p.Tyr1082Phe) c.3257A>T (p.Tyr1086Phe) c.3230A>T (p.Tyr1077Phe) c.3176A>T (p.Tyr1059Phe) c.2576A>T (p.Tyr859Phe) c.3524A>T (p.Tyr1175Phe) c.3521A>T (p.Tyr1174Phe) c.3440A>T (p.Tyr1147Phe) c.3371A>T (p.Tyr1124Phe) c.3239A>T (p.Tyr1080Phe) c.3107A>T (p.Tyr1036Phe) | |
20 | g.32435973C>A | CA408562688 | ASXL1 | c.3261C>A (p.Tyr1087Ter) c.3078C>A (p.Tyr1026Ter) n.5614C>A c.1869+1392C>A (n.1869+1392C>A) c.3246C>A (p.Tyr1082Ter) c.3258C>A (p.Tyr1086Ter) c.3231C>A (p.Tyr1077Ter) c.3177C>A (p.Tyr1059Ter) c.2577C>A (p.Tyr859Ter) c.3525C>A (p.Tyr1175Ter) c.3522C>A (p.Tyr1174Ter) c.3441C>A (p.Tyr1147Ter) c.3372C>A (p.Tyr1124Ter) c.3240C>A (p.Tyr1080Ter) c.3108C>A (p.Tyr1036Ter) | |
20 | g.32435973C>G | CA408562689 | ASXL1 | c.3261C>G (p.Tyr1087Ter) c.3078C>G (p.Tyr1026Ter) n.5614C>G c.1869+1392C>G (n.1869+1392C>G) c.3246C>G (p.Tyr1082Ter) c.3258C>G (p.Tyr1086Ter) c.3231C>G (p.Tyr1077Ter) c.3177C>G (p.Tyr1059Ter) c.2577C>G (p.Tyr859Ter) c.3525C>G (p.Tyr1175Ter) c.3522C>G (p.Tyr1174Ter) c.3441C>G (p.Tyr1147Ter) c.3372C>G (p.Tyr1124Ter) c.3240C>G (p.Tyr1080Ter) c.3108C>G (p.Tyr1036Ter) | |
20 | g.32435973C>T | CA510467187 | ASXL1 | c.3261C>T (p.Tyr1087=) c.3078C>T (p.Tyr1026=) n.5614C>T c.1869+1392C>T (n.1869+1392C>T) c.3246C>T (p.Tyr1082=) c.3258C>T (p.Tyr1086=) c.3231C>T (p.Tyr1077=) c.3177C>T (p.Tyr1059=) c.2577C>T (p.Tyr859=) c.3525C>T (p.Tyr1175=) c.3522C>T (p.Tyr1174=) c.3441C>T (p.Tyr1147=) c.3372C>T (p.Tyr1124=) c.3240C>T (p.Tyr1080=) c.3108C>T (p.Tyr1036=) | dbSNP |
20 | g.32435974C>A | CA408562690 | ASXL1 | c.3262C>A (p.Gln1088Lys) c.3079C>A (p.Gln1027Lys) n.5615C>A c.1869+1393C>A (n.1869+1393C>A) c.3247C>A (p.Gln1083Lys) c.3259C>A (p.Gln1087Lys) c.3232C>A (p.Gln1078Lys) c.3178C>A (p.Gln1060Lys) c.2578C>A (p.Gln860Lys) c.3526C>A (p.Gln1176Lys) c.3523C>A (p.Gln1175Lys) c.3442C>A (p.Gln1148Lys) c.3373C>A (p.Gln1125Lys) c.3241C>A (p.Gln1081Lys) c.3109C>A (p.Gln1037Lys) | |
20 | g.32435974C>G | CA408562691 | ASXL1 | c.3262C>G (p.Gln1088Glu) c.3079C>G (p.Gln1027Glu) n.5615C>G c.1869+1393C>G (n.1869+1393C>G) c.3247C>G (p.Gln1083Glu) c.3259C>G (p.Gln1087Glu) c.3232C>G (p.Gln1078Glu) c.3178C>G (p.Gln1060Glu) c.2578C>G (p.Gln860Glu) c.3526C>G (p.Gln1176Glu) c.3523C>G (p.Gln1175Glu) c.3442C>G (p.Gln1148Glu) c.3373C>G (p.Gln1125Glu) c.3241C>G (p.Gln1081Glu) c.3109C>G (p.Gln1037Glu) | |
20 | g.32435974C>T | CA408562692 | ASXL1 | c.3262C>T (p.Gln1088Ter) c.3079C>T (p.Gln1027Ter) n.5615C>T c.1869+1393C>T (n.1869+1393C>T) c.3247C>T (p.Gln1083Ter) c.3259C>T (p.Gln1087Ter) c.3232C>T (p.Gln1078Ter) c.3178C>T (p.Gln1060Ter) c.2578C>T (p.Gln860Ter) c.3526C>T (p.Gln1176Ter) c.3523C>T (p.Gln1175Ter) c.3442C>T (p.Gln1148Ter) c.3373C>T (p.Gln1125Ter) c.3241C>T (p.Gln1081Ter) c.3109C>T (p.Gln1037Ter) | |
20 | g.32435975A>C | CA408562693 | ASXL1 | c.3263A>C (p.Gln1088Pro) c.3080A>C (p.Gln1027Pro) n.5616A>C c.1869+1394A>C (n.1869+1394A>C) c.3248A>C (p.Gln1083Pro) c.3260A>C (p.Gln1087Pro) c.3233A>C (p.Gln1078Pro) c.3179A>C (p.Gln1060Pro) c.2579A>C (p.Gln860Pro) c.3527A>C (p.Gln1176Pro) c.3524A>C (p.Gln1175Pro) c.3443A>C (p.Gln1148Pro) c.3374A>C (p.Gln1125Pro) c.3242A>C (p.Gln1081Pro) c.3110A>C (p.Gln1037Pro) | |
20 | g.32435975A>G | CA408562694 | ASXL1 | c.3263A>G (p.Gln1088Arg) c.3080A>G (p.Gln1027Arg) n.5616A>G c.1869+1394A>G (n.1869+1394A>G) c.3248A>G (p.Gln1083Arg) c.3260A>G (p.Gln1087Arg) c.3233A>G (p.Gln1078Arg) c.3179A>G (p.Gln1060Arg) c.2579A>G (p.Gln860Arg) c.3527A>G (p.Gln1176Arg) c.3524A>G (p.Gln1175Arg) c.3443A>G (p.Gln1148Arg) c.3374A>G (p.Gln1125Arg) c.3242A>G (p.Gln1081Arg) c.3110A>G (p.Gln1037Arg) | |
20 | g.32435975A>T | CA408562695 | ASXL1 | c.3263A>T (p.Gln1088Leu) c.3080A>T (p.Gln1027Leu) n.5616A>T c.1869+1394A>T (n.1869+1394A>T) c.3248A>T (p.Gln1083Leu) c.3260A>T (p.Gln1087Leu) c.3233A>T (p.Gln1078Leu) c.3179A>T (p.Gln1060Leu) c.2579A>T (p.Gln860Leu) c.3527A>T (p.Gln1176Leu) c.3524A>T (p.Gln1175Leu) c.3443A>T (p.Gln1148Leu) c.3374A>T (p.Gln1125Leu) c.3242A>T (p.Gln1081Leu) c.3110A>T (p.Gln1037Leu) | |
20 | g.32435976G>A | CA510467191 | ASXL1 | c.3264G>A (p.Gln1088=) c.3081G>A (p.Gln1027=) n.5617G>A c.1869+1395G>A (n.1869+1395G>A) c.3249G>A (p.Gln1083=) c.3261G>A (p.Gln1087=) c.3234G>A (p.Gln1078=) c.3180G>A (p.Gln1060=) c.2580G>A (p.Gln860=) c.3528G>A (p.Gln1176=) c.3525G>A (p.Gln1175=) c.3444G>A (p.Gln1148=) c.3375G>A (p.Gln1125=) c.3243G>A (p.Gln1081=) c.3111G>A (p.Gln1037=) | gnomAD v4 |
20 | g.32435976G>C | CA408562696 | ASXL1 | c.3264G>C (p.Gln1088His) c.3081G>C (p.Gln1027His) n.5617G>C c.1869+1395G>C (n.1869+1395G>C) c.3249G>C (p.Gln1083His) c.3261G>C (p.Gln1087His) c.3234G>C (p.Gln1078His) c.3180G>C (p.Gln1060His) c.2580G>C (p.Gln860His) c.3528G>C (p.Gln1176His) c.3525G>C (p.Gln1175His) c.3444G>C (p.Gln1148His) c.3375G>C (p.Gln1125His) c.3243G>C (p.Gln1081His) c.3111G>C (p.Gln1037His) | |
20 | g.32435976G>T | CA408562697 | ASXL1 | c.3264G>T (p.Gln1088His) c.3081G>T (p.Gln1027His) n.5617G>T c.1869+1395G>T (n.1869+1395G>T) c.3249G>T (p.Gln1083His) c.3261G>T (p.Gln1087His) c.3234G>T (p.Gln1078His) c.3180G>T (p.Gln1060His) c.2580G>T (p.Gln860His) c.3528G>T (p.Gln1176His) c.3525G>T (p.Gln1175His) c.3444G>T (p.Gln1148His) c.3375G>T (p.Gln1125His) c.3243G>T (p.Gln1081His) c.3111G>T (p.Gln1037His) | |
20 | g.32435977C>A | CA408562700 | ASXL1 | c.3265C>A (p.Pro1089Thr) c.3082C>A (p.Pro1028Thr) n.5618C>A c.1869+1396C>A (n.1869+1396C>A) c.3250C>A (p.Pro1084Thr) c.3262C>A (p.Pro1088Thr) c.3235C>A (p.Pro1079Thr) c.3181C>A (p.Pro1061Thr) c.2581C>A (p.Pro861Thr) c.3529C>A (p.Pro1177Thr) c.3526C>A (p.Pro1176Thr) c.3445C>A (p.Pro1149Thr) c.3376C>A (p.Pro1126Thr) c.3244C>A (p.Pro1082Thr) c.3112C>A (p.Pro1038Thr) | dbSNP |
20 | g.32435977C= | CA2360293479 | ASXL1 | c.3265C= (p.Pro1089=) c.3082C= (p.Pro1028=) n.5618C= c.1869+1396C= (n.1869+1396C=) c.3250C= (p.Pro1084=) c.3262C= (p.Pro1088=) c.3235C= (p.Pro1079=) c.3181C= (p.Pro1061=) c.2581C= (p.Pro861=) c.3529C= (p.Pro1177=) c.3526C= (p.Pro1176=) c.3445C= (p.Pro1149=) c.3376C= (p.Pro1126=) c.3244C= (p.Pro1082=) c.3112C= (p.Pro1038=) | |
20 | g.32435977C>G | CA408562699 | ASXL1 | c.3265C>G (p.Pro1089Ala) c.3082C>G (p.Pro1028Ala) n.5618C>G c.1869+1396C>G (n.1869+1396C>G) c.3250C>G (p.Pro1084Ala) c.3262C>G (p.Pro1088Ala) c.3235C>G (p.Pro1079Ala) c.3181C>G (p.Pro1061Ala) c.2581C>G (p.Pro861Ala) c.3529C>G (p.Pro1177Ala) c.3526C>G (p.Pro1176Ala) c.3445C>G (p.Pro1149Ala) c.3376C>G (p.Pro1126Ala) c.3244C>G (p.Pro1082Ala) c.3112C>G (p.Pro1038Ala) | ClinVar dbSNP |
20 | g.32435977C>T | CA408562698 | ASXL1 | c.3265C>T (p.Pro1089Ser) c.3082C>T (p.Pro1028Ser) n.5618C>T c.1869+1396C>T (n.1869+1396C>T) c.3250C>T (p.Pro1084Ser) c.3262C>T (p.Pro1088Ser) c.3235C>T (p.Pro1079Ser) c.3181C>T (p.Pro1061Ser) c.2581C>T (p.Pro861Ser) c.3529C>T (p.Pro1177Ser) c.3526C>T (p.Pro1176Ser) c.3445C>T (p.Pro1149Ser) c.3376C>T (p.Pro1126Ser) c.3244C>T (p.Pro1082Ser) c.3112C>T (p.Pro1038Ser) | dbSNP |
20 | g.32435978C>A | CA408562701 | ASXL1 | c.3266C>A (p.Pro1089Gln) c.3083C>A (p.Pro1028Gln) n.5619C>A c.1869+1397C>A (n.1869+1397C>A) c.3251C>A (p.Pro1084Gln) c.3263C>A (p.Pro1088Gln) c.3236C>A (p.Pro1079Gln) c.3182C>A (p.Pro1061Gln) c.2582C>A (p.Pro861Gln) c.3530C>A (p.Pro1177Gln) c.3527C>A (p.Pro1176Gln) c.3446C>A (p.Pro1149Gln) c.3377C>A (p.Pro1126Gln) c.3245C>A (p.Pro1082Gln) c.3113C>A (p.Pro1038Gln) | |
20 | g.32435978C= | CA2360293480 | ASXL1 | c.3266C= (p.Pro1089=) c.3083C= (p.Pro1028=) n.5619C= c.1869+1397C= (n.1869+1397C=) c.3251C= (p.Pro1084=) c.3263C= (p.Pro1088=) c.3236C= (p.Pro1079=) c.3182C= (p.Pro1061=) c.2582C= (p.Pro861=) c.3530C= (p.Pro1177=) c.3527C= (p.Pro1176=) c.3446C= (p.Pro1149=) c.3377C= (p.Pro1126=) c.3245C= (p.Pro1082=) c.3113C= (p.Pro1038=) | |
20 | g.32435978C>G | CA408562702 | ASXL1 | c.3266C>G (p.Pro1089Arg) c.3083C>G (p.Pro1028Arg) n.5619C>G c.1869+1397C>G (n.1869+1397C>G) c.3251C>G (p.Pro1084Arg) c.3263C>G (p.Pro1088Arg) c.3236C>G (p.Pro1079Arg) c.3182C>G (p.Pro1061Arg) c.2582C>G (p.Pro861Arg) c.3530C>G (p.Pro1177Arg) c.3527C>G (p.Pro1176Arg) c.3446C>G (p.Pro1149Arg) c.3377C>G (p.Pro1126Arg) c.3245C>G (p.Pro1082Arg) c.3113C>G (p.Pro1038Arg) | |
20 | g.32435978C>T | CA408562703 | ASXL1 | c.3266C>T (p.Pro1089Leu) c.3083C>T (p.Pro1028Leu) n.5619C>T c.1869+1397C>T (n.1869+1397C>T) c.3251C>T (p.Pro1084Leu) c.3263C>T (p.Pro1088Leu) c.3236C>T (p.Pro1079Leu) c.3182C>T (p.Pro1061Leu) c.2582C>T (p.Pro861Leu) c.3530C>T (p.Pro1177Leu) c.3527C>T (p.Pro1176Leu) c.3446C>T (p.Pro1149Leu) c.3377C>T (p.Pro1126Leu) c.3245C>T (p.Pro1082Leu) c.3113C>T (p.Pro1038Leu) | dbSNP |