| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.33740509_33743845delinsAGAAGCCTAGGTGTAC | CA2740091793 | ASXL3 | c.3042+66_4000delinsAGAAGCCTAGGTGTAC c.3039+66_3997delinsAGAAGCCTAGGTGTAC c.2919+66_3877delinsAGAAGCCTAGGTGTAC c.3015+66_3973delinsAGAAGCCTAGGTGTAC c.2961+66_3919delinsAGAAGCCTAGGTGTAC c.2922+66_3880delinsAGAAGCCTAGGTGTAC c.2871+66_3829delinsAGAAGCCTAGGTGTAC | ClinVar |
| 18 | g.33743109_33743118delinsGGGAAGTCCA | CA2294857556 | ASXL3 | c.3264_3273delinsGGGAAGTCCA (p.Met1088=) c.3261_3270delinsGGGAAGTCCA (p.Met1087=) c.*2385_*2394delinsGGGAAGTCCA (n.*2385_*2394delinsGGGAAGTCCA) c.*2920_*2929delinsGGGAAGTCCA (n.*2920_*2929delinsGGGAAGTCCA) c.3473_3482delinsGGGAAGTCCA (n.3473_3482delinsGGGAAGTCCA) c.3093_3102delinsGGGAAGTCCA (p.Met1031=) c.3141_3150delinsGGGAAGTCCA (p.Met1047=) c.3237_3246delinsGGGAAGTCCA (p.Met1079=) c.3183_3192delinsGGGAAGTCCA (p.Met1061=) c.3144_3153delinsGGGAAGTCCA (p.Met1048=) c.225_234delinsGGGAAGTCCA (p.Met75=) | |
| 18 | g.33743113_33743121del | CA629454132 | ASXL3 | c.3268_3276del (p.Ser1090_Gly1092del) c.3265_3273del (p.Ser1089_Gly1091del) c.*2389_*2397del (n.*2389_*2397del) c.*2924_*2932del (n.*2924_*2932del) c.3477_3485del (n.3477_3485del) c.3097_3105del (p.Ser1033_Gly1035del) c.3145_3153del (p.Ser1049_Gly1051del) c.3241_3249del (p.Ser1081_Gly1083del) c.3187_3195del (p.Ser1063_Gly1065del) c.3148_3156del (p.Ser1050_Gly1052del) c.229_237del (p.Ser77_Gly79del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33743112A>C | CA503769559 | ASXL3 | c.3267A>C (p.Gly1089=) c.3264A>C (p.Gly1088=) c.*2388A>C (n.*2388A>C) c.*2923A>C (n.*2923A>C) c.3476A>C (n.3476A>C) c.3096A>C (p.Gly1032=) c.3144A>C (p.Gly1048=) c.3240A>C (p.Gly1080=) c.3186A>C (p.Gly1062=) c.3147A>C (p.Gly1049=) c.228A>C (p.Gly76=) | |
| 18 | g.33743112A>G | CA503769560 | ASXL3 | c.3267A>G (p.Gly1089=) c.3264A>G (p.Gly1088=) c.*2388A>G (n.*2388A>G) c.*2923A>G (n.*2923A>G) c.3476A>G (n.3476A>G) c.3096A>G (p.Gly1032=) c.3144A>G (p.Gly1048=) c.3240A>G (p.Gly1080=) c.3186A>G (p.Gly1062=) c.3147A>G (p.Gly1049=) c.228A>G (p.Gly76=) | |
| 18 | g.33743112A>T | CA503769561 | ASXL3 | c.3267A>T (p.Gly1089=) c.3264A>T (p.Gly1088=) c.*2388A>T (n.*2388A>T) c.*2923A>T (n.*2923A>T) c.3476A>T (n.3476A>T) c.3096A>T (p.Gly1032=) c.3144A>T (p.Gly1048=) c.3240A>T (p.Gly1080=) c.3186A>T (p.Gly1062=) c.3147A>T (p.Gly1049=) c.228A>T (p.Gly76=) | |
| 18 | g.33743113A= | CA2294857558 | ASXL3 | c.3268A= (p.Ser1090=) c.3265A= (p.Ser1089=) c.*2389A= (n.*2389A=) c.*2924A= (n.*2924A=) c.3477A= (n.3477A=) c.3097A= (p.Ser1033=) c.3145A= (p.Ser1049=) c.3241A= (p.Ser1081=) c.3187A= (p.Ser1063=) c.3148A= (p.Ser1050=) c.229A= (p.Ser77=) | |
| 18 | g.33743113A>C | CA402184967 | ASXL3 | c.3268A>C (p.Ser1090Arg) c.3265A>C (p.Ser1089Arg) c.*2389A>C (n.*2389A>C) c.*2924A>C (n.*2924A>C) c.3477A>C (n.3477A>C) c.3097A>C (p.Ser1033Arg) c.3145A>C (p.Ser1049Arg) c.3241A>C (p.Ser1081Arg) c.3187A>C (p.Ser1063Arg) c.3148A>C (p.Ser1050Arg) c.229A>C (p.Ser77Arg) | |
| 18 | g.33743113A>G | CA402184968 | ASXL3 | c.3268A>G (p.Ser1090Gly) c.3265A>G (p.Ser1089Gly) c.*2389A>G (n.*2389A>G) c.*2924A>G (n.*2924A>G) c.3477A>G (n.3477A>G) c.3097A>G (p.Ser1033Gly) c.3145A>G (p.Ser1049Gly) c.3241A>G (p.Ser1081Gly) c.3187A>G (p.Ser1063Gly) c.3148A>G (p.Ser1050Gly) c.229A>G (p.Ser77Gly) | dbSNP |
| 18 | g.33743113A>T | CA402184969 | ASXL3 | c.3268A>T (p.Ser1090Cys) c.3265A>T (p.Ser1089Cys) c.*2389A>T (n.*2389A>T) c.*2924A>T (n.*2924A>T) c.3477A>T (n.3477A>T) c.3097A>T (p.Ser1033Cys) c.3145A>T (p.Ser1049Cys) c.3241A>T (p.Ser1081Cys) c.3187A>T (p.Ser1063Cys) c.3148A>T (p.Ser1050Cys) c.229A>T (p.Ser77Cys) | |
| 18 | g.33743114G>A | CA402184970 | ASXL3 | c.3269G>A (p.Ser1090Asn) c.3266G>A (p.Ser1089Asn) c.*2390G>A (n.*2390G>A) c.*2925G>A (n.*2925G>A) c.3478G>A (n.3478G>A) c.3098G>A (p.Ser1033Asn) c.3146G>A (p.Ser1049Asn) c.3242G>A (p.Ser1081Asn) c.3188G>A (p.Ser1063Asn) c.3149G>A (p.Ser1050Asn) c.230G>A (p.Ser77Asn) | gnomAD v4 |
| 18 | g.33743114G>C | CA402184971 | ASXL3 | c.3269G>C (p.Ser1090Thr) c.3266G>C (p.Ser1089Thr) c.*2390G>C (n.*2390G>C) c.*2925G>C (n.*2925G>C) c.3478G>C (n.3478G>C) c.3098G>C (p.Ser1033Thr) c.3146G>C (p.Ser1049Thr) c.3242G>C (p.Ser1081Thr) c.3188G>C (p.Ser1063Thr) c.3149G>C (p.Ser1050Thr) c.230G>C (p.Ser77Thr) | |
| 18 | g.33743114G>T | CA402184972 | ASXL3 | c.3269G>T (p.Ser1090Ile) c.3266G>T (p.Ser1089Ile) c.*2390G>T (n.*2390G>T) c.*2925G>T (n.*2925G>T) c.3478G>T (n.3478G>T) c.3098G>T (p.Ser1033Ile) c.3146G>T (p.Ser1049Ile) c.3242G>T (p.Ser1081Ile) c.3188G>T (p.Ser1063Ile) c.3149G>T (p.Ser1050Ile) c.230G>T (p.Ser77Ile) | COSMIC COSMIC |
| 18 | g.33743115T>A | CA402184974 | ASXL3 | c.3270T>A (p.Ser1090Arg) c.3267T>A (p.Ser1089Arg) c.*2391T>A (n.*2391T>A) c.*2926T>A (n.*2926T>A) c.3479T>A (n.3479T>A) c.3099T>A (p.Ser1033Arg) c.3147T>A (p.Ser1049Arg) c.3243T>A (p.Ser1081Arg) c.3189T>A (p.Ser1063Arg) c.3150T>A (p.Ser1050Arg) c.231T>A (p.Ser77Arg) | |
| 18 | g.33743115T>C | CA503769562 | ASXL3 | c.3270T>C (p.Ser1090=) c.3267T>C (p.Ser1089=) c.*2391T>C (n.*2391T>C) c.*2926T>C (n.*2926T>C) c.3479T>C (n.3479T>C) c.3099T>C (p.Ser1033=) c.3147T>C (p.Ser1049=) c.3243T>C (p.Ser1081=) c.3189T>C (p.Ser1063=) c.3150T>C (p.Ser1050=) c.231T>C (p.Ser77=) | |
| 18 | g.33743115T>G | CA402184973 | ASXL3 | c.3270T>G (p.Ser1090Arg) c.3267T>G (p.Ser1089Arg) c.*2391T>G (n.*2391T>G) c.*2926T>G (n.*2926T>G) c.3479T>G (n.3479T>G) c.3099T>G (p.Ser1033Arg) c.3147T>G (p.Ser1049Arg) c.3243T>G (p.Ser1081Arg) c.3189T>G (p.Ser1063Arg) c.3150T>G (p.Ser1050Arg) c.231T>G (p.Ser77Arg) | |
| 18 | g.33743116C>A | CA402184975 | ASXL3 | c.3271C>A (p.Pro1091Thr) c.3268C>A (p.Pro1090Thr) c.*2392C>A (n.*2392C>A) c.*2927C>A (n.*2927C>A) c.3480C>A (n.3480C>A) c.3100C>A (p.Pro1034Thr) c.3148C>A (p.Pro1050Thr) c.3244C>A (p.Pro1082Thr) c.3190C>A (p.Pro1064Thr) c.3151C>A (p.Pro1051Thr) c.232C>A (p.Pro78Thr) | |
| 18 | g.33743116C= | CA2294857559 | ASXL3 | c.3271C= (p.Pro1091=) c.3268C= (p.Pro1090=) c.*2392C= (n.*2392C=) c.*2927C= (n.*2927C=) c.3480C= (n.3480C=) c.3100C= (p.Pro1034=) c.3148C= (p.Pro1050=) c.3244C= (p.Pro1082=) c.3190C= (p.Pro1064=) c.3151C= (p.Pro1051=) c.232C= (p.Pro78=) | |
| 18 | g.33743116C>G | CA8934054 | ASXL3 | c.3271C>G (p.Pro1091Ala) c.3268C>G (p.Pro1090Ala) c.*2392C>G (n.*2392C>G) c.*2927C>G (n.*2927C>G) c.3480C>G (n.3480C>G) c.3100C>G (p.Pro1034Ala) c.3148C>G (p.Pro1050Ala) c.3244C>G (p.Pro1082Ala) c.3190C>G (p.Pro1064Ala) c.3151C>G (p.Pro1051Ala) c.232C>G (p.Pro78Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33743116C>T | CA402184976 | ASXL3 | c.3271C>T (p.Pro1091Ser) c.3268C>T (p.Pro1090Ser) c.*2392C>T (n.*2392C>T) c.*2927C>T (n.*2927C>T) c.3480C>T (n.3480C>T) c.3100C>T (p.Pro1034Ser) c.3148C>T (p.Pro1050Ser) c.3244C>T (p.Pro1082Ser) c.3190C>T (p.Pro1064Ser) c.3151C>T (p.Pro1051Ser) c.232C>T (p.Pro78Ser) | |
| 18 | g.33743117C>A | CA402184977 | ASXL3 | c.3272C>A (p.Pro1091Gln) c.3269C>A (p.Pro1090Gln) c.*2393C>A (n.*2393C>A) c.*2928C>A (n.*2928C>A) c.3481C>A (n.3481C>A) c.3101C>A (p.Pro1034Gln) c.3149C>A (p.Pro1050Gln) c.3245C>A (p.Pro1082Gln) c.3191C>A (p.Pro1064Gln) c.3152C>A (p.Pro1051Gln) c.233C>A (p.Pro78Gln) | |
| 18 | g.33743117C= | CA2294857560 | ASXL3 | c.3272C= (p.Pro1091=) c.3269C= (p.Pro1090=) c.*2393C= (n.*2393C=) c.*2928C= (n.*2928C=) c.3481C= (n.3481C=) c.3101C= (p.Pro1034=) c.3149C= (p.Pro1050=) c.3245C= (p.Pro1082=) c.3191C= (p.Pro1064=) c.3152C= (p.Pro1051=) c.233C= (p.Pro78=) | |
| 18 | g.33743117C>G | CA402184978 | ASXL3 | c.3272C>G (p.Pro1091Arg) c.3269C>G (p.Pro1090Arg) c.*2393C>G (n.*2393C>G) c.*2928C>G (n.*2928C>G) c.3481C>G (n.3481C>G) c.3101C>G (p.Pro1034Arg) c.3149C>G (p.Pro1050Arg) c.3245C>G (p.Pro1082Arg) c.3191C>G (p.Pro1064Arg) c.3152C>G (p.Pro1051Arg) c.233C>G (p.Pro78Arg) | |
| 18 | g.33743117C>T | CA8934055 | ASXL3 | c.3272C>T (p.Pro1091Leu) c.3269C>T (p.Pro1090Leu) c.*2393C>T (n.*2393C>T) c.*2928C>T (n.*2928C>T) c.3481C>T (n.3481C>T) c.3101C>T (p.Pro1034Leu) c.3149C>T (p.Pro1050Leu) c.3245C>T (p.Pro1082Leu) c.3191C>T (p.Pro1064Leu) c.3152C>T (p.Pro1051Leu) c.233C>T (p.Pro78Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 18 | g.33743118A= | CA2294857561 | ASXL3 | c.3273A= (p.Pro1091=) c.3270A= (p.Pro1090=) c.*2394A= (n.*2394A=) c.*2929A= (n.*2929A=) c.3482A= (n.3482A=) c.3102A= (p.Pro1034=) c.3150A= (p.Pro1050=) c.3246A= (p.Pro1082=) c.3192A= (p.Pro1064=) c.3153A= (p.Pro1051=) c.234A= (p.Pro78=) | |
| 18 | g.33743118A>C | CA503769563 | ASXL3 | c.3273A>C (p.Pro1091=) c.3270A>C (p.Pro1090=) c.*2394A>C (n.*2394A>C) c.*2929A>C (n.*2929A>C) c.3482A>C (n.3482A>C) c.3102A>C (p.Pro1034=) c.3150A>C (p.Pro1050=) c.3246A>C (p.Pro1082=) c.3192A>C (p.Pro1064=) c.3153A>C (p.Pro1051=) c.234A>C (p.Pro78=) | |
| 18 | g.33743118A>G | CA8934056 | ASXL3 | c.3273A>G (p.Pro1091=) c.3270A>G (p.Pro1090=) c.*2394A>G (n.*2394A>G) c.*2929A>G (n.*2929A>G) c.3482A>G (n.3482A>G) c.3102A>G (p.Pro1034=) c.3150A>G (p.Pro1050=) c.3246A>G (p.Pro1082=) c.3192A>G (p.Pro1064=) c.3153A>G (p.Pro1051=) c.234A>G (p.Pro78=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33743118A>T | CA503769564 | ASXL3 | c.3273A>T (p.Pro1091=) c.3270A>T (p.Pro1090=) c.*2394A>T (n.*2394A>T) c.*2929A>T (n.*2929A>T) c.3482A>T (n.3482A>T) c.3102A>T (p.Pro1034=) c.3150A>T (p.Pro1050=) c.3246A>T (p.Pro1082=) c.3192A>T (p.Pro1064=) c.3153A>T (p.Pro1051=) c.234A>T (p.Pro78=) | |
| 18 | g.33743119G>A | CA402184979 | ASXL3 | c.3274G>A (p.Gly1092Arg) c.3271G>A (p.Gly1091Arg) c.*2395G>A (n.*2395G>A) c.*2930G>A (n.*2930G>A) c.3483G>A (n.3483G>A) c.3103G>A (p.Gly1035Arg) c.3151G>A (p.Gly1051Arg) c.3247G>A (p.Gly1083Arg) c.3193G>A (p.Gly1065Arg) c.3154G>A (p.Gly1052Arg) c.235G>A (p.Gly79Arg) | |
| 18 | g.33743119G>C | CA402184980 | ASXL3 | c.3274G>C (p.Gly1092Arg) c.3271G>C (p.Gly1091Arg) c.*2395G>C (n.*2395G>C) c.*2930G>C (n.*2930G>C) c.3483G>C (n.3483G>C) c.3103G>C (p.Gly1035Arg) c.3151G>C (p.Gly1051Arg) c.3247G>C (p.Gly1083Arg) c.3193G>C (p.Gly1065Arg) c.3154G>C (p.Gly1052Arg) c.235G>C (p.Gly79Arg) | |
| 18 | g.33743119G>T | CA402184981 | ASXL3 | c.3274G>T (p.Gly1092Ter) c.3271G>T (p.Gly1091Ter) c.*2395G>T (n.*2395G>T) c.*2930G>T (n.*2930G>T) c.3483G>T (n.3483G>T) c.3103G>T (p.Gly1035Ter) c.3151G>T (p.Gly1051Ter) c.3247G>T (p.Gly1083Ter) c.3193G>T (p.Gly1065Ter) c.3154G>T (p.Gly1052Ter) c.235G>T (p.Gly79Ter) | |
| 18 | g.33743120G>A | CA402184982 | ASXL3 | c.3275G>A (p.Gly1092Glu) c.3272G>A (p.Gly1091Glu) c.*2396G>A (n.*2396G>A) c.*2931G>A (n.*2931G>A) c.3484G>A (n.3484G>A) c.3104G>A (p.Gly1035Glu) c.3152G>A (p.Gly1051Glu) c.3248G>A (p.Gly1083Glu) c.3194G>A (p.Gly1065Glu) c.3155G>A (p.Gly1052Glu) c.236G>A (p.Gly79Glu) | |
| 18 | g.33743120G>C | CA402184983 | ASXL3 | c.3275G>C (p.Gly1092Ala) c.3272G>C (p.Gly1091Ala) c.*2396G>C (n.*2396G>C) c.*2931G>C (n.*2931G>C) c.3484G>C (n.3484G>C) c.3104G>C (p.Gly1035Ala) c.3152G>C (p.Gly1051Ala) c.3248G>C (p.Gly1083Ala) c.3194G>C (p.Gly1065Ala) c.3155G>C (p.Gly1052Ala) c.236G>C (p.Gly79Ala) | |
| 18 | g.33743120G>T | CA402184984 | ASXL3 | c.3275G>T (p.Gly1092Val) c.3272G>T (p.Gly1091Val) c.*2396G>T (n.*2396G>T) c.*2931G>T (n.*2931G>T) c.3484G>T (n.3484G>T) c.3104G>T (p.Gly1035Val) c.3152G>T (p.Gly1051Val) c.3248G>T (p.Gly1083Val) c.3194G>T (p.Gly1065Val) c.3155G>T (p.Gly1052Val) c.236G>T (p.Gly79Val) | |
| 18 | g.33743121A>C | CA503769566 | ASXL3 | c.3276A>C (p.Gly1092=) c.3273A>C (p.Gly1091=) c.*2397A>C (n.*2397A>C) c.*2932A>C (n.*2932A>C) c.3485A>C (n.3485A>C) c.3105A>C (p.Gly1035=) c.3153A>C (p.Gly1051=) c.3249A>C (p.Gly1083=) c.3195A>C (p.Gly1065=) c.3156A>C (p.Gly1052=) c.237A>C (p.Gly79=) | |
| 18 | g.33743121A>G | CA503769567 | ASXL3 | c.3276A>G (p.Gly1092=) c.3273A>G (p.Gly1091=) c.*2397A>G (n.*2397A>G) c.*2932A>G (n.*2932A>G) c.3485A>G (n.3485A>G) c.3105A>G (p.Gly1035=) c.3153A>G (p.Gly1051=) c.3249A>G (p.Gly1083=) c.3195A>G (p.Gly1065=) c.3156A>G (p.Gly1052=) c.237A>G (p.Gly79=) | ClinVar gnomAD v4 |
| 18 | g.33743121A>T | CA503769565 | ASXL3 | c.3276A>T (p.Gly1092=) c.3273A>T (p.Gly1091=) c.*2397A>T (n.*2397A>T) c.*2932A>T (n.*2932A>T) c.3485A>T (n.3485A>T) c.3105A>T (p.Gly1035=) c.3153A>T (p.Gly1051=) c.3249A>T (p.Gly1083=) c.3195A>T (p.Gly1065=) c.3156A>T (p.Gly1052=) c.237A>T (p.Gly79=) | |
| 18 | g.33743122G>A | CA402184985 | ASXL3 | c.3277G>A (p.Glu1093Lys) c.3274G>A (p.Glu1092Lys) c.*2398G>A (n.*2398G>A) c.*2933G>A (n.*2933G>A) c.3486G>A (n.3486G>A) c.3106G>A (p.Glu1036Lys) c.3154G>A (p.Glu1052Lys) c.3250G>A (p.Glu1084Lys) c.3196G>A (p.Glu1066Lys) c.3157G>A (p.Glu1053Lys) c.238G>A (p.Glu80Lys) | dbSNP gnomAD v2 |
| 18 | g.33743122G>C | CA402184987 | ASXL3 | c.3277G>C (p.Glu1093Gln) c.3274G>C (p.Glu1092Gln) c.*2398G>C (n.*2398G>C) c.*2933G>C (n.*2933G>C) c.3486G>C (n.3486G>C) c.3106G>C (p.Glu1036Gln) c.3154G>C (p.Glu1052Gln) c.3250G>C (p.Glu1084Gln) c.3196G>C (p.Glu1066Gln) c.3157G>C (p.Glu1053Gln) c.238G>C (p.Glu80Gln) | |
| 18 | g.33743122G= | CA2294857562 | ASXL3 | c.3277G= (p.Glu1093=) c.3274G= (p.Glu1092=) c.*2398G= (n.*2398G=) c.*2933G= (n.*2933G=) c.3486G= (n.3486G=) c.3106G= (p.Glu1036=) c.3154G= (p.Glu1052=) c.3250G= (p.Glu1084=) c.3196G= (p.Glu1066=) c.3157G= (p.Glu1053=) c.238G= (p.Glu80=) | |
| 18 | g.33743122G>T | CA402184986 | ASXL3 | c.3277G>T (p.Glu1093Ter) c.3274G>T (p.Glu1092Ter) c.*2398G>T (n.*2398G>T) c.*2933G>T (n.*2933G>T) c.3486G>T (n.3486G>T) c.3106G>T (p.Glu1036Ter) c.3154G>T (p.Glu1052Ter) c.3250G>T (p.Glu1084Ter) c.3196G>T (p.Glu1066Ter) c.3157G>T (p.Glu1053Ter) c.238G>T (p.Glu80Ter) | |
| 18 | g.33743123A= | CA2294857563 | ASXL3 | c.3278A= (p.Glu1093=) c.3275A= (p.Glu1092=) c.*2399A= (n.*2399A=) c.*2934A= (n.*2934A=) c.3487A= (n.3487A=) c.3107A= (p.Glu1036=) c.3155A= (p.Glu1052=) c.3251A= (p.Glu1084=) c.3197A= (p.Glu1066=) c.3158A= (p.Glu1053=) c.239A= (p.Glu80=) | |
| 18 | g.33743123A>C | CA402184988 | ASXL3 | c.3278A>C (p.Glu1093Ala) c.3275A>C (p.Glu1092Ala) c.*2399A>C (n.*2399A>C) c.*2934A>C (n.*2934A>C) c.3487A>C (n.3487A>C) c.3107A>C (p.Glu1036Ala) c.3155A>C (p.Glu1052Ala) c.3251A>C (p.Glu1084Ala) c.3197A>C (p.Glu1066Ala) c.3158A>C (p.Glu1053Ala) c.239A>C (p.Glu80Ala) | |
| 18 | g.33743123A>G | CA8934057 | ASXL3 | c.3278A>G (p.Glu1093Gly) c.3275A>G (p.Glu1092Gly) c.*2399A>G (n.*2399A>G) c.*2934A>G (n.*2934A>G) c.3487A>G (n.3487A>G) c.3107A>G (p.Glu1036Gly) c.3155A>G (p.Glu1052Gly) c.3251A>G (p.Glu1084Gly) c.3197A>G (p.Glu1066Gly) c.3158A>G (p.Glu1053Gly) c.239A>G (p.Glu80Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.33743123A>T | CA402184989 | ASXL3 | c.3278A>T (p.Glu1093Val) c.3275A>T (p.Glu1092Val) c.*2399A>T (n.*2399A>T) c.*2934A>T (n.*2934A>T) c.3487A>T (n.3487A>T) c.3107A>T (p.Glu1036Val) c.3155A>T (p.Glu1052Val) c.3251A>T (p.Glu1084Val) c.3197A>T (p.Glu1066Val) c.3158A>T (p.Glu1053Val) c.239A>T (p.Glu80Val) | |
| 18 | g.33743123dup | CA2580095670 | ASXL3 | c.3278dup (p.Gly1095TrpfsTer16) c.3275dup (p.Gly1094TrpfsTer16) c.*2399dup (n.*2399dup) c.*2934dup (n.*2934dup) c.3487dup (n.3487dup) c.3107dup (p.Gly1038TrpfsTer16) c.3155dup (p.Gly1054TrpfsTer16) c.3251dup (p.Gly1086TrpfsTer16) c.3197dup (p.Gly1068TrpfsTer16) c.3158dup (p.Gly1055TrpfsTer16) c.239dup (p.Gly82TrpfsTer16) | ClinVar |
| 18 | g.33743124G>A | CA503769568 | ASXL3 | c.3279G>A (p.Glu1093=) c.3276G>A (p.Glu1092=) c.*2400G>A (n.*2400G>A) c.*2935G>A (n.*2935G>A) c.3488G>A (n.3488G>A) c.3108G>A (p.Glu1036=) c.3156G>A (p.Glu1052=) c.3252G>A (p.Glu1084=) c.3198G>A (p.Glu1066=) c.3159G>A (p.Glu1053=) c.240G>A (p.Glu80=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.33743124G>C | CA402184990 | ASXL3 | c.3279G>C (p.Glu1093Asp) c.3276G>C (p.Glu1092Asp) c.*2400G>C (n.*2400G>C) c.*2935G>C (n.*2935G>C) c.3488G>C (n.3488G>C) c.3108G>C (p.Glu1036Asp) c.3156G>C (p.Glu1052Asp) c.3252G>C (p.Glu1084Asp) c.3198G>C (p.Glu1066Asp) c.3159G>C (p.Glu1053Asp) c.240G>C (p.Glu80Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.33743124G= | CA2294857564 | ASXL3 | c.3279G= (p.Glu1093=) c.3276G= (p.Glu1092=) c.*2400G= (n.*2400G=) c.*2935G= (n.*2935G=) c.3488G= (n.3488G=) c.3108G= (p.Glu1036=) c.3156G= (p.Glu1052=) c.3252G= (p.Glu1084=) c.3198G= (p.Glu1066=) c.3159G= (p.Glu1053=) c.240G= (p.Glu80=) | |
| 18 | g.33743124G>T | CA402184991 | ASXL3 | c.3279G>T (p.Glu1093Asp) c.3276G>T (p.Glu1092Asp) c.*2400G>T (n.*2400G>T) c.*2935G>T (n.*2935G>T) c.3488G>T (n.3488G>T) c.3108G>T (p.Glu1036Asp) c.3156G>T (p.Glu1052Asp) c.3252G>T (p.Glu1084Asp) c.3198G>T (p.Glu1066Asp) c.3159G>T (p.Glu1053Asp) c.240G>T (p.Glu80Asp) | COSMIC COSMIC |