UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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 |
| 18 | g.33743125G>A | CA402184992 | ASXL3 | c.3280G>A (p.Gly1094Ser) c.3277G>A (p.Gly1093Ser) c.*2401G>A (n.*2401G>A) c.*2936G>A (n.*2936G>A) c.3489G>A (n.3489G>A) c.3109G>A (p.Gly1037Ser) c.3157G>A (p.Gly1053Ser) c.3253G>A (p.Gly1085Ser) c.3199G>A (p.Gly1067Ser) c.3160G>A (p.Gly1054Ser) c.241G>A (p.Gly81Ser) | |
| 18 | g.33743125G>C | CA402184993 | ASXL3 | c.3280G>C (p.Gly1094Arg) c.3277G>C (p.Gly1093Arg) c.*2401G>C (n.*2401G>C) c.*2936G>C (n.*2936G>C) c.3489G>C (n.3489G>C) c.3109G>C (p.Gly1037Arg) c.3157G>C (p.Gly1053Arg) c.3253G>C (p.Gly1085Arg) c.3199G>C (p.Gly1067Arg) c.3160G>C (p.Gly1054Arg) c.241G>C (p.Gly81Arg) | |
| 18 | g.33743125G= | CA2294857565 | ASXL3 | c.3280G= (p.Gly1094=) c.3277G= (p.Gly1093=) c.*2401G= (n.*2401G=) c.*2936G= (n.*2936G=) c.3489G= (n.3489G=) c.3109G= (p.Gly1037=) c.3157G= (p.Gly1053=) c.3253G= (p.Gly1085=) c.3199G= (p.Gly1067=) c.3160G= (p.Gly1054=) c.241G= (p.Gly81=) | |
| 18 | g.33743125G>T | CA402184994 | ASXL3 | c.3280G>T (p.Gly1094Cys) c.3277G>T (p.Gly1093Cys) c.*2401G>T (n.*2401G>T) c.*2936G>T (n.*2936G>T) c.3489G>T (n.3489G>T) c.3109G>T (p.Gly1037Cys) c.3157G>T (p.Gly1053Cys) c.3253G>T (p.Gly1085Cys) c.3199G>T (p.Gly1067Cys) c.3160G>T (p.Gly1054Cys) c.241G>T (p.Gly81Cys) | dbSNP |
| 18 | g.33743126G>A | CA402184995 | ASXL3 | c.3281G>A (p.Gly1094Asp) c.3278G>A (p.Gly1093Asp) c.*2402G>A (n.*2402G>A) c.*2937G>A (n.*2937G>A) c.3490G>A (n.3490G>A) c.3110G>A (p.Gly1037Asp) c.3158G>A (p.Gly1053Asp) c.3254G>A (p.Gly1085Asp) c.3200G>A (p.Gly1067Asp) c.3161G>A (p.Gly1054Asp) c.242G>A (p.Gly81Asp) | gnomAD v4 |
| 18 | g.33743126G>C | CA402184996 | ASXL3 | c.3281G>C (p.Gly1094Ala) c.3278G>C (p.Gly1093Ala) c.*2402G>C (n.*2402G>C) c.*2937G>C (n.*2937G>C) c.3490G>C (n.3490G>C) c.3110G>C (p.Gly1037Ala) c.3158G>C (p.Gly1053Ala) c.3254G>C (p.Gly1085Ala) c.3200G>C (p.Gly1067Ala) c.3161G>C (p.Gly1054Ala) c.242G>C (p.Gly81Ala) | |
| 18 | g.33743126G>T | CA402184997 | ASXL3 | c.3281G>T (p.Gly1094Val) c.3278G>T (p.Gly1093Val) c.*2402G>T (n.*2402G>T) c.*2937G>T (n.*2937G>T) c.3490G>T (n.3490G>T) c.3110G>T (p.Gly1037Val) c.3158G>T (p.Gly1053Val) c.3254G>T (p.Gly1085Val) c.3200G>T (p.Gly1067Val) c.3161G>T (p.Gly1054Val) c.242G>T (p.Gly81Val) | |
| 18 | g.33743127T>A | CA503769569 | ASXL3 | c.3282T>A (p.Gly1094=) c.3279T>A (p.Gly1093=) c.*2403T>A (n.*2403T>A) c.*2938T>A (n.*2938T>A) c.3491T>A (n.3491T>A) c.3111T>A (p.Gly1037=) c.3159T>A (p.Gly1053=) c.3255T>A (p.Gly1085=) c.3201T>A (p.Gly1067=) c.3162T>A (p.Gly1054=) c.243T>A (p.Gly81=) | |
| 18 | g.33743127T>C | CA503769571 | ASXL3 | c.3282T>C (p.Gly1094=) c.3279T>C (p.Gly1093=) c.*2403T>C (n.*2403T>C) c.*2938T>C (n.*2938T>C) c.3491T>C (n.3491T>C) c.3111T>C (p.Gly1037=) c.3159T>C (p.Gly1053=) c.3255T>C (p.Gly1085=) c.3201T>C (p.Gly1067=) c.3162T>C (p.Gly1054=) c.243T>C (p.Gly81=) | |
| 18 | g.33743127T>G | CA503769570 | ASXL3 | c.3282T>G (p.Gly1094=) c.3279T>G (p.Gly1093=) c.*2403T>G (n.*2403T>G) c.*2938T>G (n.*2938T>G) c.3491T>G (n.3491T>G) c.3111T>G (p.Gly1037=) c.3159T>G (p.Gly1053=) c.3255T>G (p.Gly1085=) c.3201T>G (p.Gly1067=) c.3162T>G (p.Gly1054=) c.243T>G (p.Gly81=) | gnomAD v4 |
| 18 | g.33743128G>A | CA402184999 | ASXL3 | c.3283G>A (p.Gly1095Arg) c.3280G>A (p.Gly1094Arg) c.*2404G>A (n.*2404G>A) c.*2939G>A (n.*2939G>A) c.3492G>A (n.3492G>A) c.3112G>A (p.Gly1038Arg) c.3160G>A (p.Gly1054Arg) c.3256G>A (p.Gly1086Arg) c.3202G>A (p.Gly1068Arg) c.3163G>A (p.Gly1055Arg) c.244G>A (p.Gly82Arg) | |
| 18 | g.33743128G>C | CA402185000 | ASXL3 | c.3283G>C (p.Gly1095Arg) c.3280G>C (p.Gly1094Arg) c.*2404G>C (n.*2404G>C) c.*2939G>C (n.*2939G>C) c.3492G>C (n.3492G>C) c.3112G>C (p.Gly1038Arg) c.3160G>C (p.Gly1054Arg) c.3256G>C (p.Gly1086Arg) c.3202G>C (p.Gly1068Arg) c.3163G>C (p.Gly1055Arg) c.244G>C (p.Gly82Arg) | |
| 18 | g.33743128G>T | CA402184998 | ASXL3 | c.3283G>T (p.Gly1095Ter) c.3280G>T (p.Gly1094Ter) c.*2404G>T (n.*2404G>T) c.*2939G>T (n.*2939G>T) c.3492G>T (n.3492G>T) c.3112G>T (p.Gly1038Ter) c.3160G>T (p.Gly1054Ter) c.3256G>T (p.Gly1086Ter) c.3202G>T (p.Gly1068Ter) c.3163G>T (p.Gly1055Ter) c.244G>T (p.Gly82Ter) | |
| 18 | g.33743129G>A | CA402185003 | ASXL3 | c.3284G>A (p.Gly1095Glu) c.3281G>A (p.Gly1094Glu) c.*2405G>A (n.*2405G>A) c.*2940G>A (n.*2940G>A) c.3493G>A (n.3493G>A) c.3113G>A (p.Gly1038Glu) c.3161G>A (p.Gly1054Glu) c.3257G>A (p.Gly1086Glu) c.3203G>A (p.Gly1068Glu) c.3164G>A (p.Gly1055Glu) c.245G>A (p.Gly82Glu) | gnomAD v4 |
| 18 | g.33743129G>C | CA402185001 | ASXL3 | c.3284G>C (p.Gly1095Ala) c.3281G>C (p.Gly1094Ala) c.*2405G>C (n.*2405G>C) c.*2940G>C (n.*2940G>C) c.3493G>C (n.3493G>C) c.3113G>C (p.Gly1038Ala) c.3161G>C (p.Gly1054Ala) c.3257G>C (p.Gly1086Ala) c.3203G>C (p.Gly1068Ala) c.3164G>C (p.Gly1055Ala) c.245G>C (p.Gly82Ala) | |
| 18 | g.33743129G>T | CA402185002 | ASXL3 | c.3284G>T (p.Gly1095Val) c.3281G>T (p.Gly1094Val) c.*2405G>T (n.*2405G>T) c.*2940G>T (n.*2940G>T) c.3493G>T (n.3493G>T) c.3113G>T (p.Gly1038Val) c.3161G>T (p.Gly1054Val) c.3257G>T (p.Gly1086Val) c.3203G>T (p.Gly1068Val) c.3164G>T (p.Gly1055Val) c.245G>T (p.Gly82Val) | |
| 18 | g.33743130A= | CA2294857566 | ASXL3 | c.3285A= (p.Gly1095=) c.3282A= (p.Gly1094=) c.*2406A= (n.*2406A=) c.*2941A= (n.*2941A=) c.3494A= (n.3494A=) c.3114A= (p.Gly1038=) c.3162A= (p.Gly1054=) c.3258A= (p.Gly1086=) c.3204A= (p.Gly1068=) c.3165A= (p.Gly1055=) c.246A= (p.Gly82=) | |
| 18 | g.33743130A>C | CA503769572 | ASXL3 | c.3285A>C (p.Gly1095=) c.3282A>C (p.Gly1094=) c.*2406A>C (n.*2406A>C) c.*2941A>C (n.*2941A>C) c.3494A>C (n.3494A>C) c.3114A>C (p.Gly1038=) c.3162A>C (p.Gly1054=) c.3258A>C (p.Gly1086=) c.3204A>C (p.Gly1068=) c.3165A>C (p.Gly1055=) c.246A>C (p.Gly82=) | |
| 18 | g.33743130A>G | CA503769573 | ASXL3 | c.3285A>G (p.Gly1095=) c.3282A>G (p.Gly1094=) c.*2406A>G (n.*2406A>G) c.*2941A>G (n.*2941A>G) c.3494A>G (n.3494A>G) c.3114A>G (p.Gly1038=) c.3162A>G (p.Gly1054=) c.3258A>G (p.Gly1086=) c.3204A>G (p.Gly1068=) c.3165A>G (p.Gly1055=) c.246A>G (p.Gly82=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.33743130A>T | CA503769574 | ASXL3 | c.3285A>T (p.Gly1095=) c.3282A>T (p.Gly1094=) c.*2406A>T (n.*2406A>T) c.*2941A>T (n.*2941A>T) c.3494A>T (n.3494A>T) c.3114A>T (p.Gly1038=) c.3162A>T (p.Gly1054=) c.3258A>T (p.Gly1086=) c.3204A>T (p.Gly1068=) c.3165A>T (p.Gly1055=) c.246A>T (p.Gly82=) | |
| 18 | g.33743131A>C | CA402185004 | ASXL3 | c.3286A>C (p.Lys1096Gln) c.3283A>C (p.Lys1095Gln) c.*2407A>C (n.*2407A>C) c.*2942A>C (n.*2942A>C) c.3495A>C (n.3495A>C) c.3115A>C (p.Lys1039Gln) c.3163A>C (p.Lys1055Gln) c.3259A>C (p.Lys1087Gln) c.3205A>C (p.Lys1069Gln) c.3166A>C (p.Lys1056Gln) c.247A>C (p.Lys83Gln) |