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.33743014G>A | CA402184674 | ASXL3 | c.3169G>A (p.Asp1057Asn) c.3166G>A (p.Asp1056Asn) c.*2290G>A (n.*2290G>A) c.*2825G>A (n.*2825G>A) c.3378G>A (n.3378G>A) c.2998G>A (p.Asp1000Asn) c.3046G>A (p.Asp1016Asn) c.3142G>A (p.Asp1048Asn) c.3088G>A (p.Asp1030Asn) c.3049G>A (p.Asp1017Asn) c.130G>A (p.Asp44Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.33743014G>C | CA402184679 | ASXL3 | c.3169G>C (p.Asp1057His) c.3166G>C (p.Asp1056His) c.*2290G>C (n.*2290G>C) c.*2825G>C (n.*2825G>C) c.3378G>C (n.3378G>C) c.2998G>C (p.Asp1000His) c.3046G>C (p.Asp1016His) c.3142G>C (p.Asp1048His) c.3088G>C (p.Asp1030His) c.3049G>C (p.Asp1017His) c.130G>C (p.Asp44His) | |
| 18 | g.33743014G= | CA2294857522 | ASXL3 | c.3169G= (p.Asp1057=) c.3166G= (p.Asp1056=) c.*2290G= (n.*2290G=) c.*2825G= (n.*2825G=) c.3378G= (n.3378G=) c.2998G= (p.Asp1000=) c.3046G= (p.Asp1016=) c.3142G= (p.Asp1048=) c.3088G= (p.Asp1030=) c.3049G= (p.Asp1017=) c.130G= (p.Asp44=) | |
| 18 | g.33743014G>T | CA402184681 | ASXL3 | c.3169G>T (p.Asp1057Tyr) c.3166G>T (p.Asp1056Tyr) c.*2290G>T (n.*2290G>T) c.*2825G>T (n.*2825G>T) c.3378G>T (n.3378G>T) c.2998G>T (p.Asp1000Tyr) c.3046G>T (p.Asp1016Tyr) c.3142G>T (p.Asp1048Tyr) c.3088G>T (p.Asp1030Tyr) c.3049G>T (p.Asp1017Tyr) c.130G>T (p.Asp44Tyr) | |
| 18 | g.33743015A= | CA2294857523 | ASXL3 | c.3170A= (p.Asp1057=) c.3167A= (p.Asp1056=) c.*2291A= (n.*2291A=) c.*2826A= (n.*2826A=) c.3379A= (n.3379A=) c.2999A= (p.Asp1000=) c.3047A= (p.Asp1016=) c.3143A= (p.Asp1048=) c.3089A= (p.Asp1030=) c.3050A= (p.Asp1017=) c.131A= (p.Asp44=) | |
| 18 | g.33743015A>C | CA402184687 | ASXL3 | c.3170A>C (p.Asp1057Ala) c.3167A>C (p.Asp1056Ala) c.*2291A>C (n.*2291A>C) c.*2826A>C (n.*2826A>C) c.3379A>C (n.3379A>C) c.2999A>C (p.Asp1000Ala) c.3047A>C (p.Asp1016Ala) c.3143A>C (p.Asp1048Ala) c.3089A>C (p.Asp1030Ala) c.3050A>C (p.Asp1017Ala) c.131A>C (p.Asp44Ala) | |
| 18 | g.33743015A>G | CA402184685 | ASXL3 | c.3170A>G (p.Asp1057Gly) c.3167A>G (p.Asp1056Gly) c.*2291A>G (n.*2291A>G) c.*2826A>G (n.*2826A>G) c.3379A>G (n.3379A>G) c.2999A>G (p.Asp1000Gly) c.3047A>G (p.Asp1016Gly) c.3143A>G (p.Asp1048Gly) c.3089A>G (p.Asp1030Gly) c.3050A>G (p.Asp1017Gly) c.131A>G (p.Asp44Gly) | |
| 18 | g.33743015A>T | CA402184684 | ASXL3 | c.3170A>T (p.Asp1057Val) c.3167A>T (p.Asp1056Val) c.*2291A>T (n.*2291A>T) c.*2826A>T (n.*2826A>T) c.3379A>T (n.3379A>T) c.2999A>T (p.Asp1000Val) c.3047A>T (p.Asp1016Val) c.3143A>T (p.Asp1048Val) c.3089A>T (p.Asp1030Val) c.3050A>T (p.Asp1017Val) c.131A>T (p.Asp44Val) | dbSNP |
| 18 | g.33743016T>A | CA402184692 | ASXL3 | c.3171T>A (p.Asp1057Glu) c.3168T>A (p.Asp1056Glu) c.*2292T>A (n.*2292T>A) c.*2827T>A (n.*2827T>A) c.3380T>A (n.3380T>A) c.3000T>A (p.Asp1000Glu) c.3048T>A (p.Asp1016Glu) c.3144T>A (p.Asp1048Glu) c.3090T>A (p.Asp1030Glu) c.3051T>A (p.Asp1017Glu) c.132T>A (p.Asp44Glu) | |
| 18 | g.33743016T>C | CA503769486 | ASXL3 | c.3171T>C (p.Asp1057=) c.3168T>C (p.Asp1056=) c.*2292T>C (n.*2292T>C) c.*2827T>C (n.*2827T>C) c.3380T>C (n.3380T>C) c.3000T>C (p.Asp1000=) c.3048T>C (p.Asp1016=) c.3144T>C (p.Asp1048=) c.3090T>C (p.Asp1030=) c.3051T>C (p.Asp1017=) c.132T>C (p.Asp44=) | |
| 18 | g.33743016T>G | CA402184690 | ASXL3 | c.3171T>G (p.Asp1057Glu) c.3168T>G (p.Asp1056Glu) c.*2292T>G (n.*2292T>G) c.*2827T>G (n.*2827T>G) c.3380T>G (n.3380T>G) c.3000T>G (p.Asp1000Glu) c.3048T>G (p.Asp1016Glu) c.3144T>G (p.Asp1048Glu) c.3090T>G (p.Asp1030Glu) c.3051T>G (p.Asp1017Glu) c.132T>G (p.Asp44Glu) | |
| 18 | g.33743017A>C | CA402184695 | ASXL3 | c.3172A>C (p.Ile1058Leu) c.3169A>C (p.Ile1057Leu) c.*2293A>C (n.*2293A>C) c.*2828A>C (n.*2828A>C) c.3381A>C (n.3381A>C) c.3001A>C (p.Ile1001Leu) c.3049A>C (p.Ile1017Leu) c.3145A>C (p.Ile1049Leu) c.3091A>C (p.Ile1031Leu) c.3052A>C (p.Ile1018Leu) c.133A>C (p.Ile45Leu) | |
| 18 | g.33743017A>G | CA402184697 | ASXL3 | c.3172A>G (p.Ile1058Val) c.3169A>G (p.Ile1057Val) c.*2293A>G (n.*2293A>G) c.*2828A>G (n.*2828A>G) c.3381A>G (n.3381A>G) c.3001A>G (p.Ile1001Val) c.3049A>G (p.Ile1017Val) c.3145A>G (p.Ile1049Val) c.3091A>G (p.Ile1031Val) c.3052A>G (p.Ile1018Val) c.133A>G (p.Ile45Val) | |
| 18 | g.33743017A>T | CA402184699 | ASXL3 | c.3172A>T (p.Ile1058Phe) c.3169A>T (p.Ile1057Phe) c.*2293A>T (n.*2293A>T) c.*2828A>T (n.*2828A>T) c.3381A>T (n.3381A>T) c.3001A>T (p.Ile1001Phe) c.3049A>T (p.Ile1017Phe) c.3145A>T (p.Ile1049Phe) c.3091A>T (p.Ile1031Phe) c.3052A>T (p.Ile1018Phe) c.133A>T (p.Ile45Phe) | |
| 18 | g.33743018T>A | CA402184701 | ASXL3 | c.3173T>A (p.Ile1058Asn) c.3170T>A (p.Ile1057Asn) c.*2294T>A (n.*2294T>A) c.*2829T>A (n.*2829T>A) c.3382T>A (n.3382T>A) c.3002T>A (p.Ile1001Asn) c.3050T>A (p.Ile1017Asn) c.3146T>A (p.Ile1049Asn) c.3092T>A (p.Ile1031Asn) c.3053T>A (p.Ile1018Asn) c.134T>A (p.Ile45Asn) | |
| 18 | g.33743018T>C | CA402184703 | ASXL3 | c.3173T>C (p.Ile1058Thr) c.3170T>C (p.Ile1057Thr) c.*2294T>C (n.*2294T>C) c.*2829T>C (n.*2829T>C) c.3382T>C (n.3382T>C) c.3002T>C (p.Ile1001Thr) c.3050T>C (p.Ile1017Thr) c.3146T>C (p.Ile1049Thr) c.3092T>C (p.Ile1031Thr) c.3053T>C (p.Ile1018Thr) c.134T>C (p.Ile45Thr) | |
| 18 | g.33743018T>G | CA402184705 | ASXL3 | c.3173T>G (p.Ile1058Ser) c.3170T>G (p.Ile1057Ser) c.*2294T>G (n.*2294T>G) c.*2829T>G (n.*2829T>G) c.3382T>G (n.3382T>G) c.3002T>G (p.Ile1001Ser) c.3050T>G (p.Ile1017Ser) c.3146T>G (p.Ile1049Ser) c.3092T>G (p.Ile1031Ser) c.3053T>G (p.Ile1018Ser) c.134T>G (p.Ile45Ser) | |
| 18 | g.33743019C>A | CA503769487 | ASXL3 | c.3174C>A (p.Ile1058=) c.3171C>A (p.Ile1057=) c.*2295C>A (n.*2295C>A) c.*2830C>A (n.*2830C>A) c.3383C>A (n.3383C>A) c.3003C>A (p.Ile1001=) c.3051C>A (p.Ile1017=) c.3147C>A (p.Ile1049=) c.3093C>A (p.Ile1031=) c.3054C>A (p.Ile1018=) c.135C>A (p.Ile45=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.33743019C= | CA2294857524 | ASXL3 | c.3174C= (p.Ile1058=) c.3171C= (p.Ile1057=) c.*2295C= (n.*2295C=) c.*2830C= (n.*2830C=) c.3383C= (n.3383C=) c.3003C= (p.Ile1001=) c.3051C= (p.Ile1017=) c.3147C= (p.Ile1049=) c.3093C= (p.Ile1031=) c.3054C= (p.Ile1018=) c.135C= (p.Ile45=) | |
| 18 | g.33743019C>G | CA402184708 | ASXL3 | c.3174C>G (p.Ile1058Met) c.3171C>G (p.Ile1057Met) c.*2295C>G (n.*2295C>G) c.*2830C>G (n.*2830C>G) c.3383C>G (n.3383C>G) c.3003C>G (p.Ile1001Met) c.3051C>G (p.Ile1017Met) c.3147C>G (p.Ile1049Met) c.3093C>G (p.Ile1031Met) c.3054C>G (p.Ile1018Met) c.135C>G (p.Ile45Met) | |
| 18 | g.33743019C>T | CA503769488 | ASXL3 | c.3174C>T (p.Ile1058=) c.3171C>T (p.Ile1057=) c.*2295C>T (n.*2295C>T) c.*2830C>T (n.*2830C>T) c.3383C>T (n.3383C>T) c.3003C>T (p.Ile1001=) c.3051C>T (p.Ile1017=) c.3147C>T (p.Ile1049=) c.3093C>T (p.Ile1031=) c.3054C>T (p.Ile1018=) c.135C>T (p.Ile45=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33743020A>C | CA402184710 | ASXL3 | c.3175A>C (p.Lys1059Gln) c.3172A>C (p.Lys1058Gln) c.*2296A>C (n.*2296A>C) c.*2831A>C (n.*2831A>C) c.3384A>C (n.3384A>C) c.3004A>C (p.Lys1002Gln) c.3052A>C (p.Lys1018Gln) c.3148A>C (p.Lys1050Gln) c.3094A>C (p.Lys1032Gln) c.3055A>C (p.Lys1019Gln) c.136A>C (p.Lys46Gln) | gnomAD v4 |
| 18 | g.33743020A>G | CA402184712 | ASXL3 | c.3175A>G (p.Lys1059Glu) c.3172A>G (p.Lys1058Glu) c.*2296A>G (n.*2296A>G) c.*2831A>G (n.*2831A>G) c.3384A>G (n.3384A>G) c.3004A>G (p.Lys1002Glu) c.3052A>G (p.Lys1018Glu) c.3148A>G (p.Lys1050Glu) c.3094A>G (p.Lys1032Glu) c.3055A>G (p.Lys1019Glu) c.136A>G (p.Lys46Glu) | |
| 18 | g.33743020A>T | CA402184713 | ASXL3 | c.3175A>T (p.Lys1059Ter) c.3172A>T (p.Lys1058Ter) c.*2296A>T (n.*2296A>T) c.*2831A>T (n.*2831A>T) c.3384A>T (n.3384A>T) c.3004A>T (p.Lys1002Ter) c.3052A>T (p.Lys1018Ter) c.3148A>T (p.Lys1050Ter) c.3094A>T (p.Lys1032Ter) c.3055A>T (p.Lys1019Ter) c.136A>T (p.Lys46Ter) | |
| 18 | g.33743021A>C | CA402184715 | ASXL3 | c.3176A>C (p.Lys1059Thr) c.3173A>C (p.Lys1058Thr) c.*2297A>C (n.*2297A>C) c.*2832A>C (n.*2832A>C) c.3385A>C (n.3385A>C) c.3005A>C (p.Lys1002Thr) c.3053A>C (p.Lys1018Thr) c.3149A>C (p.Lys1050Thr) c.3095A>C (p.Lys1032Thr) c.3056A>C (p.Lys1019Thr) c.137A>C (p.Lys46Thr) | |
| 18 | g.33743021A>G | CA402184717 | ASXL3 | c.3176A>G (p.Lys1059Arg) c.3173A>G (p.Lys1058Arg) c.*2297A>G (n.*2297A>G) c.*2832A>G (n.*2832A>G) c.3385A>G (n.3385A>G) c.3005A>G (p.Lys1002Arg) c.3053A>G (p.Lys1018Arg) c.3149A>G (p.Lys1050Arg) c.3095A>G (p.Lys1032Arg) c.3056A>G (p.Lys1019Arg) c.137A>G (p.Lys46Arg) | |
| 18 | g.33743021A>T | CA402184719 | ASXL3 | c.3176A>T (p.Lys1059Met) c.3173A>T (p.Lys1058Met) c.*2297A>T (n.*2297A>T) c.*2832A>T (n.*2832A>T) c.3385A>T (n.3385A>T) c.3005A>T (p.Lys1002Met) c.3053A>T (p.Lys1018Met) c.3149A>T (p.Lys1050Met) c.3095A>T (p.Lys1032Met) c.3056A>T (p.Lys1019Met) c.137A>T (p.Lys46Met) | |
| 18 | g.33743022G>A | CA503769489 | ASXL3 | c.3177G>A (p.Lys1059=) c.3174G>A (p.Lys1058=) c.*2298G>A (n.*2298G>A) c.*2833G>A (n.*2833G>A) c.3386G>A (n.3386G>A) c.3006G>A (p.Lys1002=) c.3054G>A (p.Lys1018=) c.3150G>A (p.Lys1050=) c.3096G>A (p.Lys1032=) c.3057G>A (p.Lys1019=) c.138G>A (p.Lys46=) | gnomAD v4 |
| 18 | g.33743022G>C | CA402184725 | ASXL3 | c.3177G>C (p.Lys1059Asn) c.3174G>C (p.Lys1058Asn) c.*2298G>C (n.*2298G>C) c.*2833G>C (n.*2833G>C) c.3386G>C (n.3386G>C) c.3006G>C (p.Lys1002Asn) c.3054G>C (p.Lys1018Asn) c.3150G>C (p.Lys1050Asn) c.3096G>C (p.Lys1032Asn) c.3057G>C (p.Lys1019Asn) c.138G>C (p.Lys46Asn) | |
| 18 | g.33743022G>T | CA402184722 | ASXL3 | c.3177G>T (p.Lys1059Asn) c.3174G>T (p.Lys1058Asn) c.*2298G>T (n.*2298G>T) c.*2833G>T (n.*2833G>T) c.3386G>T (n.3386G>T) c.3006G>T (p.Lys1002Asn) c.3054G>T (p.Lys1018Asn) c.3150G>T (p.Lys1050Asn) c.3096G>T (p.Lys1032Asn) c.3057G>T (p.Lys1019Asn) c.138G>T (p.Lys46Asn) | |
| 18 | g.33743023G>A | CA402184727 | ASXL3 | c.3178G>A (p.Ala1060Thr) c.3175G>A (p.Ala1059Thr) c.*2299G>A (n.*2299G>A) c.*2834G>A (n.*2834G>A) c.3387G>A (n.3387G>A) c.3007G>A (p.Ala1003Thr) c.3055G>A (p.Ala1019Thr) c.3151G>A (p.Ala1051Thr) c.3097G>A (p.Ala1033Thr) c.3058G>A (p.Ala1020Thr) c.139G>A (p.Ala47Thr) | |
| 18 | g.33743023G>C | CA402184728 | ASXL3 | c.3178G>C (p.Ala1060Pro) c.3175G>C (p.Ala1059Pro) c.*2299G>C (n.*2299G>C) c.*2834G>C (n.*2834G>C) c.3387G>C (n.3387G>C) c.3007G>C (p.Ala1003Pro) c.3055G>C (p.Ala1019Pro) c.3151G>C (p.Ala1051Pro) c.3097G>C (p.Ala1033Pro) c.3058G>C (p.Ala1020Pro) c.139G>C (p.Ala47Pro) | |
| 18 | g.33743023G= | CA2294857525 | ASXL3 | c.3178G= (p.Ala1060=) c.3175G= (p.Ala1059=) c.*2299G= (n.*2299G=) c.*2834G= (n.*2834G=) c.3387G= (n.3387G=) c.3007G= (p.Ala1003=) c.3055G= (p.Ala1019=) c.3151G= (p.Ala1051=) c.3097G= (p.Ala1033=) c.3058G= (p.Ala1020=) c.139G= (p.Ala47=) | |
| 18 | g.33743023G>T | CA8934038 | ASXL3 | c.3178G>T (p.Ala1060Ser) c.3175G>T (p.Ala1059Ser) c.*2299G>T (n.*2299G>T) c.*2834G>T (n.*2834G>T) c.3387G>T (n.3387G>T) c.3007G>T (p.Ala1003Ser) c.3055G>T (p.Ala1019Ser) c.3151G>T (p.Ala1051Ser) c.3097G>T (p.Ala1033Ser) c.3058G>T (p.Ala1020Ser) c.139G>T (p.Ala47Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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 |