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.33743025_33743039dup | CA2641457807 | ASXL3 | c.3180_3194dup (p.Ala1065_Arg1066insArgAlaGlnGlnAla) c.3177_3191dup (p.Ala1064_Arg1065insArgAlaGlnGlnAla) c.*2301_*2315dup (n.*2301_*2315dup) c.*2836_*2850dup (n.*2836_*2850dup) c.3389_3403dup (n.3389_3403dup) c.3009_3023dup (p.Ala1008_Arg1009insArgAlaGlnGlnAla) c.3057_3071dup (p.Ala1024_Arg1025insArgAlaGlnGlnAla) c.3153_3167dup (p.Ala1056_Arg1057insArgAlaGlnGlnAla) c.3099_3113dup (p.Ala1038_Arg1039insArgAlaGlnGlnAla) c.3060_3074dup (p.Ala1025_Arg1026insArgAlaGlnGlnAla) c.141_155dup (p.Ala52_Arg53insArgAlaGlnGlnAla) | gnomAD v4 |
| 18 | g.33743024C>A | CA402184731 | ASXL3 | c.3179C>A (p.Ala1060Asp) c.3176C>A (p.Ala1059Asp) c.*2300C>A (n.*2300C>A) c.*2835C>A (n.*2835C>A) c.3388C>A (n.3388C>A) c.3008C>A (p.Ala1003Asp) c.3056C>A (p.Ala1019Asp) c.3152C>A (p.Ala1051Asp) c.3098C>A (p.Ala1033Asp) c.3059C>A (p.Ala1020Asp) c.140C>A (p.Ala47Asp) | gnomAD v4 |
| 18 | g.33743024C>G | CA402184733 | ASXL3 | c.3179C>G (p.Ala1060Gly) c.3176C>G (p.Ala1059Gly) c.*2300C>G (n.*2300C>G) c.*2835C>G (n.*2835C>G) c.3388C>G (n.3388C>G) c.3008C>G (p.Ala1003Gly) c.3056C>G (p.Ala1019Gly) c.3152C>G (p.Ala1051Gly) c.3098C>G (p.Ala1033Gly) c.3059C>G (p.Ala1020Gly) c.140C>G (p.Ala47Gly) | |
| 18 | g.33743024C>T | CA402184735 | ASXL3 | c.3179C>T (p.Ala1060Val) c.3176C>T (p.Ala1059Val) c.*2300C>T (n.*2300C>T) c.*2835C>T (n.*2835C>T) c.3388C>T (n.3388C>T) c.3008C>T (p.Ala1003Val) c.3056C>T (p.Ala1019Val) c.3152C>T (p.Ala1051Val) c.3098C>T (p.Ala1033Val) c.3059C>T (p.Ala1020Val) c.140C>T (p.Ala47Val) | |
| 18 | g.33743026dup | CA658791351 | ASXL3 | c.3181dup (p.Arg1061ProfsTer?) c.3178dup (p.Arg1060ProfsTer?) c.*2302dup (n.*2302dup) c.*2837dup (n.*2837dup) c.3390dup (n.3390dup) c.3010dup (p.Arg1004ProfsTer?) c.3058dup (p.Arg1020ProfsTer?) c.3154dup (p.Arg1052ProfsTer?) c.3100dup (p.Arg1034ProfsTer?) c.3061dup (p.Arg1021ProfsTer?) c.142dup (p.Arg48ProfsTer?) | |
| 18 | g.33743025C>A | CA503769490 | ASXL3 | c.3180C>A (p.Ala1060=) c.3177C>A (p.Ala1059=) c.*2301C>A (n.*2301C>A) c.*2836C>A (n.*2836C>A) c.3389C>A (n.3389C>A) c.3009C>A (p.Ala1003=) c.3057C>A (p.Ala1019=) c.3153C>A (p.Ala1051=) c.3099C>A (p.Ala1033=) c.3060C>A (p.Ala1020=) c.141C>A (p.Ala47=) | |
| 18 | g.33743025C>G | CA503769491 | ASXL3 | c.3180C>G (p.Ala1060=) c.3177C>G (p.Ala1059=) c.*2301C>G (n.*2301C>G) c.*2836C>G (n.*2836C>G) c.3389C>G (n.3389C>G) c.3009C>G (p.Ala1003=) c.3057C>G (p.Ala1019=) c.3153C>G (p.Ala1051=) c.3099C>G (p.Ala1033=) c.3060C>G (p.Ala1020=) c.141C>G (p.Ala47=) | |
| 18 | g.33743025C>T | CA503769492 | ASXL3 | c.3180C>T (p.Ala1060=) c.3177C>T (p.Ala1059=) c.*2301C>T (n.*2301C>T) c.*2836C>T (n.*2836C>T) c.3389C>T (n.3389C>T) c.3009C>T (p.Ala1003=) c.3057C>T (p.Ala1019=) c.3153C>T (p.Ala1051=) c.3099C>T (p.Ala1033=) c.3060C>T (p.Ala1020=) c.141C>T (p.Ala47=) | |
| 18 | g.33743025_33743040delinsCCGGGCCCAACAAGCT | CA2294857526 | ASXL3 | c.3180_3195delinsCCGGGCCCAACAAGCT (p.Ala1060=) c.3177_3192delinsCCGGGCCCAACAAGCT (p.Ala1059=) c.*2301_*2316delinsCCGGGCCCAACAAGCT (n.*2301_*2316delinsCCGGGCCCAACAAGCT) c.*2836_*2851delinsCCGGGCCCAACAAGCT (n.*2836_*2851delinsCCGGGCCCAACAAGCT) c.3389_3404delinsCCGGGCCCAACAAGCT (n.3389_3404delinsCCGGGCCCAACAAGCT) c.3009_3024delinsCCGGGCCCAACAAGCT (p.Ala1003=) c.3057_3072delinsCCGGGCCCAACAAGCT (p.Ala1019=) c.3153_3168delinsCCGGGCCCAACAAGCT (p.Ala1051=) c.3099_3114delinsCCGGGCCCAACAAGCT (p.Ala1033=) c.3060_3075delinsCCGGGCCCAACAAGCT (p.Ala1020=) c.141_156delinsCCGGGCCCAACAAGCT (p.Ala47=) | |
| 18 | g.33743026C>A | CA503769493 | ASXL3 | c.3181C>A (p.Arg1061=) c.3178C>A (p.Arg1060=) c.*2302C>A (n.*2302C>A) c.*2837C>A (n.*2837C>A) c.3390C>A (n.3390C>A) c.3010C>A (p.Arg1004=) c.3058C>A (p.Arg1020=) c.3154C>A (p.Arg1052=) c.3100C>A (p.Arg1034=) c.3061C>A (p.Arg1021=) c.142C>A (p.Arg48=) | gnomAD v4 |
| 18 | g.33743026C= | CA2294857527 | ASXL3 | c.3181C= (p.Arg1061=) c.3178C= (p.Arg1060=) c.*2302C= (n.*2302C=) c.*2837C= (n.*2837C=) c.3390C= (n.3390C=) c.3010C= (p.Arg1004=) c.3058C= (p.Arg1020=) c.3154C= (p.Arg1052=) c.3100C= (p.Arg1034=) c.3061C= (p.Arg1021=) c.142C= (p.Arg48=) | |
| 18 | g.33743026C>G | CA402184740 | ASXL3 | c.3181C>G (p.Arg1061Gly) c.3178C>G (p.Arg1060Gly) c.*2302C>G (n.*2302C>G) c.*2837C>G (n.*2837C>G) c.3390C>G (n.3390C>G) c.3010C>G (p.Arg1004Gly) c.3058C>G (p.Arg1020Gly) c.3154C>G (p.Arg1052Gly) c.3100C>G (p.Arg1034Gly) c.3061C>G (p.Arg1021Gly) c.142C>G (p.Arg48Gly) | |
| 18 | g.33743026C>T | CA8934039 | ASXL3 | c.3181C>T (p.Arg1061Trp) c.3178C>T (p.Arg1060Trp) c.*2302C>T (n.*2302C>T) c.*2837C>T (n.*2837C>T) c.3390C>T (n.3390C>T) c.3010C>T (p.Arg1004Trp) c.3058C>T (p.Arg1020Trp) c.3154C>T (p.Arg1052Trp) c.3100C>T (p.Arg1034Trp) c.3061C>T (p.Arg1021Trp) c.142C>T (p.Arg48Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33743034_33743048del | CA778637238 | ASXL3 | c.3189_3203del (p.Gln1064_Gln1068del) c.3186_3200del (p.Gln1063_Gln1067del) c.*2310_*2324del (n.*2310_*2324del) c.*2845_*2859del (n.*2845_*2859del) c.3398_3412del (n.3398_3412del) c.3018_3032del (p.Gln1007_Gln1011del) c.3066_3080del (p.Gln1023_Gln1027del) c.3162_3176del (p.Gln1055_Gln1059del) c.3108_3122del (p.Gln1037_Gln1041del) c.3069_3083del (p.Gln1024_Gln1028del) c.150_164del (p.Gln51_Gln55del) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.33743027G>A | CA402184741 | ASXL3 | c.3182G>A (p.Arg1061Gln) c.3179G>A (p.Arg1060Gln) c.*2303G>A (n.*2303G>A) c.*2838G>A (n.*2838G>A) c.3391G>A (n.3391G>A) c.3011G>A (p.Arg1004Gln) c.3059G>A (p.Arg1020Gln) c.3155G>A (p.Arg1052Gln) c.3101G>A (p.Arg1034Gln) c.3062G>A (p.Arg1021Gln) c.143G>A (p.Arg48Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.33743027G>C | CA402184744 | ASXL3 | c.3182G>C (p.Arg1061Pro) c.3179G>C (p.Arg1060Pro) c.*2303G>C (n.*2303G>C) c.*2838G>C (n.*2838G>C) c.3391G>C (n.3391G>C) c.3011G>C (p.Arg1004Pro) c.3059G>C (p.Arg1020Pro) c.3155G>C (p.Arg1052Pro) c.3101G>C (p.Arg1034Pro) c.3062G>C (p.Arg1021Pro) c.143G>C (p.Arg48Pro) | |
| 18 | g.33743027G= | CA2294857528 | ASXL3 | c.3182G= (p.Arg1061=) c.3179G= (p.Arg1060=) c.*2303G= (n.*2303G=) c.*2838G= (n.*2838G=) c.3391G= (n.3391G=) c.3011G= (p.Arg1004=) c.3059G= (p.Arg1020=) c.3155G= (p.Arg1052=) c.3101G= (p.Arg1034=) c.3062G= (p.Arg1021=) c.143G= (p.Arg48=) | |
| 18 | g.33743027G>T | CA402184746 | ASXL3 | c.3182G>T (p.Arg1061Leu) c.3179G>T (p.Arg1060Leu) c.*2303G>T (n.*2303G>T) c.*2838G>T (n.*2838G>T) c.3391G>T (n.3391G>T) c.3011G>T (p.Arg1004Leu) c.3059G>T (p.Arg1020Leu) c.3155G>T (p.Arg1052Leu) c.3101G>T (p.Arg1034Leu) c.3062G>T (p.Arg1021Leu) c.143G>T (p.Arg48Leu) | |
| 18 | g.33743028G>A | CA503769494 | ASXL3 | c.3183G>A (p.Arg1061=) c.3180G>A (p.Arg1060=) c.*2304G>A (n.*2304G>A) c.*2839G>A (n.*2839G>A) c.3392G>A (n.3392G>A) c.3012G>A (p.Arg1004=) c.3060G>A (p.Arg1020=) c.3156G>A (p.Arg1052=) c.3102G>A (p.Arg1034=) c.3063G>A (p.Arg1021=) c.144G>A (p.Arg48=) | |
| 18 | g.33743028G>C | CA503769495 | ASXL3 | c.3183G>C (p.Arg1061=) c.3180G>C (p.Arg1060=) c.*2304G>C (n.*2304G>C) c.*2839G>C (n.*2839G>C) c.3392G>C (n.3392G>C) c.3012G>C (p.Arg1004=) c.3060G>C (p.Arg1020=) c.3156G>C (p.Arg1052=) c.3102G>C (p.Arg1034=) c.3063G>C (p.Arg1021=) c.144G>C (p.Arg48=) | |
| 18 | g.33743028G>T | CA503769496 | ASXL3 | c.3183G>T (p.Arg1061=) c.3180G>T (p.Arg1060=) c.*2304G>T (n.*2304G>T) c.*2839G>T (n.*2839G>T) c.3392G>T (n.3392G>T) c.3012G>T (p.Arg1004=) c.3060G>T (p.Arg1020=) c.3156G>T (p.Arg1052=) c.3102G>T (p.Arg1034=) c.3063G>T (p.Arg1021=) c.144G>T (p.Arg48=) | gnomAD v4 |
| 18 | g.33743029G>A | CA8934040 | ASXL3 | c.3184G>A (p.Ala1062Thr) c.3181G>A (p.Ala1061Thr) c.*2305G>A (n.*2305G>A) c.*2840G>A (n.*2840G>A) c.3393G>A (n.3393G>A) c.3013G>A (p.Ala1005Thr) c.3061G>A (p.Ala1021Thr) c.3157G>A (p.Ala1053Thr) c.3103G>A (p.Ala1035Thr) c.3064G>A (p.Ala1022Thr) c.145G>A (p.Ala49Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.33743029G>C | CA402184750 | ASXL3 | c.3184G>C (p.Ala1062Pro) c.3181G>C (p.Ala1061Pro) c.*2305G>C (n.*2305G>C) c.*2840G>C (n.*2840G>C) c.3393G>C (n.3393G>C) c.3013G>C (p.Ala1005Pro) c.3061G>C (p.Ala1021Pro) c.3157G>C (p.Ala1053Pro) c.3103G>C (p.Ala1035Pro) c.3064G>C (p.Ala1022Pro) c.145G>C (p.Ala49Pro) | |
| 18 | g.33743029G= | CA2294857529 | ASXL3 | c.3184G= (p.Ala1062=) c.3181G= (p.Ala1061=) c.*2305G= (n.*2305G=) c.*2840G= (n.*2840G=) c.3393G= (n.3393G=) c.3013G= (p.Ala1005=) c.3061G= (p.Ala1021=) c.3157G= (p.Ala1053=) c.3103G= (p.Ala1035=) c.3064G= (p.Ala1022=) c.145G= (p.Ala49=) | |
| 18 | g.33743029G>T | CA402184752 | ASXL3 | c.3184G>T (p.Ala1062Ser) c.3181G>T (p.Ala1061Ser) c.*2305G>T (n.*2305G>T) c.*2840G>T (n.*2840G>T) c.3393G>T (n.3393G>T) c.3013G>T (p.Ala1005Ser) c.3061G>T (p.Ala1021Ser) c.3157G>T (p.Ala1053Ser) c.3103G>T (p.Ala1035Ser) c.3064G>T (p.Ala1022Ser) c.145G>T (p.Ala49Ser) | gnomAD v4 |
| 18 | g.33743030C>A | CA402184755 | ASXL3 | c.3185C>A (p.Ala1062Asp) c.3182C>A (p.Ala1061Asp) c.*2306C>A (n.*2306C>A) c.*2841C>A (n.*2841C>A) c.3394C>A (n.3394C>A) c.3014C>A (p.Ala1005Asp) c.3062C>A (p.Ala1021Asp) c.3158C>A (p.Ala1053Asp) c.3104C>A (p.Ala1035Asp) c.3065C>A (p.Ala1022Asp) c.146C>A (p.Ala49Asp) | gnomAD v4 |
| 18 | g.33743030C= | CA2294857530 | ASXL3 | c.3185C= (p.Ala1062=) c.3182C= (p.Ala1061=) c.*2306C= (n.*2306C=) c.*2841C= (n.*2841C=) c.3394C= (n.3394C=) c.3014C= (p.Ala1005=) c.3062C= (p.Ala1021=) c.3158C= (p.Ala1053=) c.3104C= (p.Ala1035=) c.3065C= (p.Ala1022=) c.146C= (p.Ala49=) | |
| 18 | g.33743030C>G | CA402184758 | ASXL3 | c.3185C>G (p.Ala1062Gly) c.3182C>G (p.Ala1061Gly) c.*2306C>G (n.*2306C>G) c.*2841C>G (n.*2841C>G) c.3394C>G (n.3394C>G) c.3014C>G (p.Ala1005Gly) c.3062C>G (p.Ala1021Gly) c.3158C>G (p.Ala1053Gly) c.3104C>G (p.Ala1035Gly) c.3065C>G (p.Ala1022Gly) c.146C>G (p.Ala49Gly) | |
| 18 | g.33743030C>T | CA402184757 | ASXL3 | c.3185C>T (p.Ala1062Val) c.3182C>T (p.Ala1061Val) c.*2306C>T (n.*2306C>T) c.*2841C>T (n.*2841C>T) c.3394C>T (n.3394C>T) c.3014C>T (p.Ala1005Val) c.3062C>T (p.Ala1021Val) c.3158C>T (p.Ala1053Val) c.3104C>T (p.Ala1035Val) c.3065C>T (p.Ala1022Val) c.146C>T (p.Ala49Val) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.33743031C>A | CA503769497 | ASXL3 | c.3186C>A (p.Ala1062=) c.3183C>A (p.Ala1061=) c.*2307C>A (n.*2307C>A) c.*2842C>A (n.*2842C>A) c.3395C>A (n.3395C>A) c.3015C>A (p.Ala1005=) c.3063C>A (p.Ala1021=) c.3159C>A (p.Ala1053=) c.3105C>A (p.Ala1035=) c.3066C>A (p.Ala1022=) c.147C>A (p.Ala49=) | |
| 18 | g.33743031C>G | CA503769498 | ASXL3 | c.3186C>G (p.Ala1062=) c.3183C>G (p.Ala1061=) c.*2307C>G (n.*2307C>G) c.*2842C>G (n.*2842C>G) c.3395C>G (n.3395C>G) c.3015C>G (p.Ala1005=) c.3063C>G (p.Ala1021=) c.3159C>G (p.Ala1053=) c.3105C>G (p.Ala1035=) c.3066C>G (p.Ala1022=) c.147C>G (p.Ala49=) | |
| 18 | g.33743031C>T | CA503769499 | ASXL3 | c.3186C>T (p.Ala1062=) c.3183C>T (p.Ala1061=) c.*2307C>T (n.*2307C>T) c.*2842C>T (n.*2842C>T) c.3395C>T (n.3395C>T) c.3015C>T (p.Ala1005=) c.3063C>T (p.Ala1021=) c.3159C>T (p.Ala1053=) c.3105C>T (p.Ala1035=) c.3066C>T (p.Ala1022=) c.147C>T (p.Ala49=) | |
| 18 | g.33743032C>A | CA402184759 | ASXL3 | c.3187C>A (p.Gln1063Lys) c.3184C>A (p.Gln1062Lys) c.*2308C>A (n.*2308C>A) c.*2843C>A (n.*2843C>A) c.3396C>A (n.3396C>A) c.3016C>A (p.Gln1006Lys) c.3064C>A (p.Gln1022Lys) c.3160C>A (p.Gln1054Lys) c.3106C>A (p.Gln1036Lys) c.3067C>A (p.Gln1023Lys) c.148C>A (p.Gln50Lys) | |
| 18 | g.33743032C>G | CA402184761 | ASXL3 | c.3187C>G (p.Gln1063Glu) c.3184C>G (p.Gln1062Glu) c.*2308C>G (n.*2308C>G) c.*2843C>G (n.*2843C>G) c.3396C>G (n.3396C>G) c.3016C>G (p.Gln1006Glu) c.3064C>G (p.Gln1022Glu) c.3160C>G (p.Gln1054Glu) c.3106C>G (p.Gln1036Glu) c.3067C>G (p.Gln1023Glu) c.148C>G (p.Gln50Glu) | |
| 18 | g.33743032C>T | CA402184763 | ASXL3 | c.3187C>T (p.Gln1063Ter) c.3184C>T (p.Gln1062Ter) c.*2308C>T (n.*2308C>T) c.*2843C>T (n.*2843C>T) c.3396C>T (n.3396C>T) c.3016C>T (p.Gln1006Ter) c.3064C>T (p.Gln1022Ter) c.3160C>T (p.Gln1054Ter) c.3106C>T (p.Gln1036Ter) c.3067C>T (p.Gln1023Ter) c.148C>T (p.Gln50Ter) | |
| 18 | g.33743033A>C | CA402184765 | ASXL3 | c.3188A>C (p.Gln1063Pro) c.3185A>C (p.Gln1062Pro) c.*2309A>C (n.*2309A>C) c.*2844A>C (n.*2844A>C) c.3397A>C (n.3397A>C) c.3017A>C (p.Gln1006Pro) c.3065A>C (p.Gln1022Pro) c.3161A>C (p.Gln1054Pro) c.3107A>C (p.Gln1036Pro) c.3068A>C (p.Gln1023Pro) c.149A>C (p.Gln50Pro) | |
| 18 | g.33743033A>G | CA402184767 | ASXL3 | c.3188A>G (p.Gln1063Arg) c.3185A>G (p.Gln1062Arg) c.*2309A>G (n.*2309A>G) c.*2844A>G (n.*2844A>G) c.3397A>G (n.3397A>G) c.3017A>G (p.Gln1006Arg) c.3065A>G (p.Gln1022Arg) c.3161A>G (p.Gln1054Arg) c.3107A>G (p.Gln1036Arg) c.3068A>G (p.Gln1023Arg) c.149A>G (p.Gln50Arg) | |
| 18 | g.33743033A>T | CA402184769 | ASXL3 | c.3188A>T (p.Gln1063Leu) c.3185A>T (p.Gln1062Leu) c.*2309A>T (n.*2309A>T) c.*2844A>T (n.*2844A>T) c.3397A>T (n.3397A>T) c.3017A>T (p.Gln1006Leu) c.3065A>T (p.Gln1022Leu) c.3161A>T (p.Gln1054Leu) c.3107A>T (p.Gln1036Leu) c.3068A>T (p.Gln1023Leu) c.149A>T (p.Gln50Leu) | |
| 18 | g.33743034A= | CA2294857531 | ASXL3 | c.3189A= (p.Gln1063=) c.3186A= (p.Gln1062=) c.*2310A= (n.*2310A=) c.*2845A= (n.*2845A=) c.3398A= (n.3398A=) c.3018A= (p.Gln1006=) c.3066A= (p.Gln1022=) c.3162A= (p.Gln1054=) c.3108A= (p.Gln1036=) c.3069A= (p.Gln1023=) c.150A= (p.Gln50=) | |
| 18 | g.33743034A>C | CA402184771 | ASXL3 | c.3189A>C (p.Gln1063His) c.3186A>C (p.Gln1062His) c.*2310A>C (n.*2310A>C) c.*2845A>C (n.*2845A>C) c.3398A>C (n.3398A>C) c.3018A>C (p.Gln1006His) c.3066A>C (p.Gln1022His) c.3162A>C (p.Gln1054His) c.3108A>C (p.Gln1036His) c.3069A>C (p.Gln1023His) c.150A>C (p.Gln50His) | |
| 18 | g.33743034A>G | CA503769500 | ASXL3 | c.3189A>G (p.Gln1063=) c.3186A>G (p.Gln1062=) c.*2310A>G (n.*2310A>G) c.*2845A>G (n.*2845A>G) c.3398A>G (n.3398A>G) c.3018A>G (p.Gln1006=) c.3066A>G (p.Gln1022=) c.3162A>G (p.Gln1054=) c.3108A>G (p.Gln1036=) c.3069A>G (p.Gln1023=) c.150A>G (p.Gln50=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33743034A>T | CA402184773 | ASXL3 | c.3189A>T (p.Gln1063His) c.3186A>T (p.Gln1062His) c.*2310A>T (n.*2310A>T) c.*2845A>T (n.*2845A>T) c.3398A>T (n.3398A>T) c.3018A>T (p.Gln1006His) c.3066A>T (p.Gln1022His) c.3162A>T (p.Gln1054His) c.3108A>T (p.Gln1036His) c.3069A>T (p.Gln1023His) c.150A>T (p.Gln50His) | |
| 18 | g.33743035C>A | CA402184776 | ASXL3 | c.3190C>A (p.Gln1064Lys) c.3187C>A (p.Gln1063Lys) c.*2311C>A (n.*2311C>A) c.*2846C>A (n.*2846C>A) c.3399C>A (n.3399C>A) c.3019C>A (p.Gln1007Lys) c.3067C>A (p.Gln1023Lys) c.3163C>A (p.Gln1055Lys) c.3109C>A (p.Gln1037Lys) c.3070C>A (p.Gln1024Lys) c.151C>A (p.Gln51Lys) | dbSNP |
| 18 | g.33743035C>G | CA402184778 | ASXL3 | c.3190C>G (p.Gln1064Glu) c.3187C>G (p.Gln1063Glu) c.*2311C>G (n.*2311C>G) c.*2846C>G (n.*2846C>G) c.3399C>G (n.3399C>G) c.3019C>G (p.Gln1007Glu) c.3067C>G (p.Gln1023Glu) c.3163C>G (p.Gln1055Glu) c.3109C>G (p.Gln1037Glu) c.3070C>G (p.Gln1024Glu) c.151C>G (p.Gln51Glu) | |
| 18 | g.33743035C>T | CA402184780 | ASXL3 | c.3190C>T (p.Gln1064Ter) c.3187C>T (p.Gln1063Ter) c.*2311C>T (n.*2311C>T) c.*2846C>T (n.*2846C>T) c.3399C>T (n.3399C>T) c.3019C>T (p.Gln1007Ter) c.3067C>T (p.Gln1023Ter) c.3163C>T (p.Gln1055Ter) c.3109C>T (p.Gln1037Ter) c.3070C>T (p.Gln1024Ter) c.151C>T (p.Gln51Ter) | |
| 18 | g.33743036A>C | CA402184788 | ASXL3 | c.3191A>C (p.Gln1064Pro) c.3188A>C (p.Gln1063Pro) c.*2312A>C (n.*2312A>C) c.*2847A>C (n.*2847A>C) c.3400A>C (n.3400A>C) c.3020A>C (p.Gln1007Pro) c.3068A>C (p.Gln1023Pro) c.3164A>C (p.Gln1055Pro) c.3110A>C (p.Gln1037Pro) c.3071A>C (p.Gln1024Pro) c.152A>C (p.Gln51Pro) | |
| 18 | g.33743036A>G | CA402184786 | ASXL3 | c.3191A>G (p.Gln1064Arg) c.3188A>G (p.Gln1063Arg) c.*2312A>G (n.*2312A>G) c.*2847A>G (n.*2847A>G) c.3400A>G (n.3400A>G) c.3020A>G (p.Gln1007Arg) c.3068A>G (p.Gln1023Arg) c.3164A>G (p.Gln1055Arg) c.3110A>G (p.Gln1037Arg) c.3071A>G (p.Gln1024Arg) c.152A>G (p.Gln51Arg) | |
| 18 | g.33743036A>T | CA402184784 | ASXL3 | c.3191A>T (p.Gln1064Leu) c.3188A>T (p.Gln1063Leu) c.*2312A>T (n.*2312A>T) c.*2847A>T (n.*2847A>T) c.3400A>T (n.3400A>T) c.3020A>T (p.Gln1007Leu) c.3068A>T (p.Gln1023Leu) c.3164A>T (p.Gln1055Leu) c.3110A>T (p.Gln1037Leu) c.3071A>T (p.Gln1024Leu) c.152A>T (p.Gln51Leu) | |
| 18 | g.33743037A>C | CA402184789 | ASXL3 | c.3192A>C (p.Gln1064His) c.3189A>C (p.Gln1063His) c.*2313A>C (n.*2313A>C) c.*2848A>C (n.*2848A>C) c.3401A>C (n.3401A>C) c.3021A>C (p.Gln1007His) c.3069A>C (p.Gln1023His) c.3165A>C (p.Gln1055His) c.3111A>C (p.Gln1037His) c.3072A>C (p.Gln1024His) c.153A>C (p.Gln51His) | dbSNP gnomAD v3 gnomAD v4 |