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 |
|---|---|---|---|---|---|
| 11 | g.77182037_77182038del | CA2695198939 | MYO7A | c.2991_2992del (p.Glu998ValfsTer2) c.1056_1057del (p.Glu353ValfsTer2) c.832_833del c.2958_2959del (p.Glu987ValfsTer2) c.534_535del (p.Glu179ValfsTer2) n.534_535del c.2772_2773del (p.Glu925ValfsTer2) c.2760_2761del (p.Glu921ValfsTer2) c.2733_2734del (p.Glu912ValfsTer2) n.3311_3312del n.3313_3314del c.3081_3082del (p.Glu1028ValfsTer2) c.2850_2851del (p.Glu951ValfsTer2) n.3096_3097del | ClinVar |
| 11 | g.77182038G>A | CA381943992 | MYO7A | c.2992G>A (p.Glu998Lys) c.1057G>A (p.Glu353Lys) c.833G>A c.2959G>A (p.Glu987Lys) c.535G>A (p.Glu179Lys) n.535G>A c.2773G>A (p.Glu925Lys) c.2761G>A (p.Glu921Lys) c.2734G>A (p.Glu912Lys) n.3312G>A n.3314G>A c.3082G>A (p.Glu1028Lys) c.2851G>A (p.Glu951Lys) n.3097G>A | |
| 11 | g.77182038G>C | CA381943994 | MYO7A | c.2992G>C (p.Glu998Gln) c.1057G>C (p.Glu353Gln) c.833G>C c.2959G>C (p.Glu987Gln) c.535G>C (p.Glu179Gln) n.535G>C c.2773G>C (p.Glu925Gln) c.2761G>C (p.Glu921Gln) c.2734G>C (p.Glu912Gln) n.3312G>C n.3314G>C c.3082G>C (p.Glu1028Gln) c.2851G>C (p.Glu951Gln) n.3097G>C | |
| 11 | g.77182038G>T | CA381943995 | MYO7A | c.2992G>T (p.Glu998Ter) c.1057G>T (p.Glu353Ter) c.833G>T c.2959G>T (p.Glu987Ter) c.535G>T (p.Glu179Ter) n.535G>T c.2773G>T (p.Glu925Ter) c.2761G>T (p.Glu921Ter) c.2734G>T (p.Glu912Ter) n.3312G>T n.3314G>T c.3082G>T (p.Glu1028Ter) c.2851G>T (p.Glu951Ter) n.3097G>T | |
| 11 | g.77182039A>C | CA381943999 | MYO7A | c.2993A>C (p.Glu998Ala) c.1058A>C (p.Glu353Ala) c.834A>C c.2960A>C (p.Glu987Ala) c.536A>C (p.Glu179Ala) n.536A>C c.2774A>C (p.Glu925Ala) c.2762A>C (p.Glu921Ala) c.2735A>C (p.Glu912Ala) n.3313A>C n.3315A>C c.3083A>C (p.Glu1028Ala) c.2852A>C (p.Glu951Ala) n.3098A>C | |
| 11 | g.77182039A>G | CA381944000 | MYO7A | c.2993A>G (p.Glu998Gly) c.1058A>G (p.Glu353Gly) c.834A>G c.2960A>G (p.Glu987Gly) c.536A>G (p.Glu179Gly) n.536A>G c.2774A>G (p.Glu925Gly) c.2762A>G (p.Glu921Gly) c.2735A>G (p.Glu912Gly) n.3313A>G n.3315A>G c.3083A>G (p.Glu1028Gly) c.2852A>G (p.Glu951Gly) n.3098A>G | gnomAD v4 |
| 11 | g.77182039A>T | CA381943997 | MYO7A | c.2993A>T (p.Glu998Val) c.1058A>T (p.Glu353Val) c.834A>T c.2960A>T (p.Glu987Val) c.536A>T (p.Glu179Val) n.536A>T c.2774A>T (p.Glu925Val) c.2762A>T (p.Glu921Val) c.2735A>T (p.Glu912Val) n.3313A>T n.3315A>T c.3083A>T (p.Glu1028Val) c.2852A>T (p.Glu951Val) n.3098A>T | |
| 11 | g.77182040G>A | CA224841720 | MYO7A | c.2994G>A (p.Glu998=) c.1059G>A (p.Glu353=) c.835G>A c.2961G>A (p.Glu987=) c.537G>A (p.Glu179=) n.537G>A c.2775G>A (p.Glu925=) c.2763G>A (p.Glu921=) c.2736G>A (p.Glu912=) n.3314G>A n.3316G>A c.3084G>A (p.Glu1028=) c.2853G>A (p.Glu951=) n.3099G>A | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77182040G>C | CA381944005 | MYO7A | c.2994G>C (p.Glu998Asp) c.1059G>C (p.Glu353Asp) c.835G>C c.2961G>C (p.Glu987Asp) c.537G>C (p.Glu179Asp) n.537G>C c.2775G>C (p.Glu925Asp) c.2763G>C (p.Glu921Asp) c.2736G>C (p.Glu912Asp) n.3314G>C n.3316G>C c.3084G>C (p.Glu1028Asp) c.2853G>C (p.Glu951Asp) n.3099G>C | |
| 11 | g.77182040G= | CA1984113304 | MYO7A | c.2994G= (p.Glu998=) c.1059G= (p.Glu353=) c.835G= c.2961G= (p.Glu987=) c.537G= (p.Glu179=) n.537G= c.2775G= (p.Glu925=) c.2763G= (p.Glu921=) c.2736G= (p.Glu912=) n.3314G= n.3316G= c.3084G= (p.Glu1028=) c.2853G= (p.Glu951=) n.3099G= | |
| 11 | g.77182040G>T | CA381944003 | MYO7A | c.2994G>T (p.Glu998Asp) c.1059G>T (p.Glu353Asp) c.835G>T c.2961G>T (p.Glu987Asp) c.537G>T (p.Glu179Asp) n.537G>T c.2775G>T (p.Glu925Asp) c.2763G>T (p.Glu921Asp) c.2736G>T (p.Glu912Asp) n.3314G>T n.3316G>T c.3084G>T (p.Glu1028Asp) c.2853G>T (p.Glu951Asp) n.3099G>T | |
| 11 | g.77182041T>A | CA381944006 | MYO7A | c.2995T>A (p.Tyr999Asn) c.1060T>A (p.Tyr354Asn) c.836T>A c.2962T>A (p.Tyr988Asn) c.538T>A (p.Tyr180Asn) n.538T>A c.2776T>A (p.Tyr926Asn) c.2764T>A (p.Tyr922Asn) c.2737T>A (p.Tyr913Asn) n.3315T>A n.3317T>A c.3085T>A (p.Tyr1029Asn) c.2854T>A (p.Tyr952Asn) n.3100T>A | |
| 11 | g.77182041T>C | CA381944007 | MYO7A | c.2995T>C (p.Tyr999His) c.1060T>C (p.Tyr354His) c.836T>C c.2962T>C (p.Tyr988His) c.538T>C (p.Tyr180His) n.538T>C c.2776T>C (p.Tyr926His) c.2764T>C (p.Tyr922His) c.2737T>C (p.Tyr913His) n.3315T>C n.3317T>C c.3085T>C (p.Tyr1029His) c.2854T>C (p.Tyr952His) n.3100T>C | |
| 11 | g.77182041T>G | CA381944008 | MYO7A | c.2995T>G (p.Tyr999Asp) c.1060T>G (p.Tyr354Asp) c.836T>G c.2962T>G (p.Tyr988Asp) c.538T>G (p.Tyr180Asp) n.538T>G c.2776T>G (p.Tyr926Asp) c.2764T>G (p.Tyr922Asp) c.2737T>G (p.Tyr913Asp) n.3315T>G n.3317T>G c.3085T>G (p.Tyr1029Asp) c.2854T>G (p.Tyr952Asp) n.3100T>G | |
| 11 | g.77182042A>C | CA381944010 | MYO7A | c.2996A>C (p.Tyr999Ser) c.1061A>C (p.Tyr354Ser) c.837A>C c.2963A>C (p.Tyr988Ser) c.539A>C (p.Tyr180Ser) n.539A>C c.2777A>C (p.Tyr926Ser) c.2765A>C (p.Tyr922Ser) c.2738A>C (p.Tyr913Ser) n.3316A>C n.3318A>C c.3086A>C (p.Tyr1029Ser) c.2855A>C (p.Tyr952Ser) n.3101A>C | |
| 11 | g.77182042A>G | CA381944012 | MYO7A | c.2996A>G (p.Tyr999Cys) c.1061A>G (p.Tyr354Cys) c.837A>G c.2963A>G (p.Tyr988Cys) c.539A>G (p.Tyr180Cys) n.539A>G c.2777A>G (p.Tyr926Cys) c.2765A>G (p.Tyr922Cys) c.2738A>G (p.Tyr913Cys) n.3316A>G n.3318A>G c.3086A>G (p.Tyr1029Cys) c.2855A>G (p.Tyr952Cys) n.3101A>G | gnomAD v4 |
| 11 | g.77182042A>T | CA381944013 | MYO7A | c.2996A>T (p.Tyr999Phe) c.1061A>T (p.Tyr354Phe) c.837A>T c.2963A>T (p.Tyr988Phe) c.539A>T (p.Tyr180Phe) n.539A>T c.2777A>T (p.Tyr926Phe) c.2765A>T (p.Tyr922Phe) c.2738A>T (p.Tyr913Phe) n.3316A>T n.3318A>T c.3086A>T (p.Tyr1029Phe) c.2855A>T (p.Tyr952Phe) n.3101A>T | |
| 11 | g.77182043T>A | CA381944015 | MYO7A | c.2997T>A (p.Tyr999Ter) c.1062T>A (p.Tyr354Ter) c.838T>A c.2964T>A (p.Tyr988Ter) c.540T>A (p.Tyr180Ter) n.540T>A c.2778T>A (p.Tyr926Ter) c.2766T>A (p.Tyr922Ter) c.2739T>A (p.Tyr913Ter) n.3317T>A n.3319T>A c.3087T>A (p.Tyr1029Ter) c.2856T>A (p.Tyr952Ter) n.3102T>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.77182043T>G | CA381944017 | MYO7A | c.2997T>G (p.Tyr999Ter) c.1062T>G (p.Tyr354Ter) c.838T>G c.2964T>G (p.Tyr988Ter) c.540T>G (p.Tyr180Ter) n.540T>G c.2778T>G (p.Tyr926Ter) c.2766T>G (p.Tyr922Ter) c.2739T>G (p.Tyr913Ter) n.3317T>G n.3319T>G c.3087T>G (p.Tyr1029Ter) c.2856T>G (p.Tyr952Ter) n.3102T>G | |
| 11 | g.77182044A= | CA1984113310 | MYO7A | c.2998A= (p.Lys1000=) c.1063A= (p.Lys355=) c.839A= c.2965A= (p.Lys989=) c.541A= (p.Lys181=) n.541A= c.2779A= (p.Lys927=) c.2767A= (p.Lys923=) c.2740A= (p.Lys914=) n.3318A= n.3320A= c.3088A= (p.Lys1030=) c.2857A= (p.Lys953=) n.3103A= | |
| 11 | g.77182044A>C | CA224841722 | MYO7A | c.2998A>C (p.Lys1000Gln) c.1063A>C (p.Lys355Gln) c.839A>C c.2965A>C (p.Lys989Gln) c.541A>C (p.Lys181Gln) n.541A>C c.2779A>C (p.Lys927Gln) c.2767A>C (p.Lys923Gln) c.2740A>C (p.Lys914Gln) n.3318A>C n.3320A>C c.3088A>C (p.Lys1030Gln) c.2857A>C (p.Lys953Gln) n.3103A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77182044A>G | CA381944020 | MYO7A | c.2998A>G (p.Lys1000Glu) c.1063A>G (p.Lys355Glu) c.839A>G c.2965A>G (p.Lys989Glu) c.541A>G (p.Lys181Glu) n.541A>G c.2779A>G (p.Lys927Glu) c.2767A>G (p.Lys923Glu) c.2740A>G (p.Lys914Glu) n.3318A>G n.3320A>G c.3088A>G (p.Lys1030Glu) c.2857A>G (p.Lys953Glu) n.3103A>G | |
| 11 | g.77182044A>T | CA381944022 | MYO7A | c.2998A>T (p.Lys1000Ter) c.1063A>T (p.Lys355Ter) c.839A>T c.2965A>T (p.Lys989Ter) c.541A>T (p.Lys181Ter) n.541A>T c.2779A>T (p.Lys927Ter) c.2767A>T (p.Lys923Ter) c.2740A>T (p.Lys914Ter) n.3318A>T n.3320A>T c.3088A>T (p.Lys1030Ter) c.2857A>T (p.Lys953Ter) n.3103A>T | ClinVar |
| 11 | g.77182045A>C | CA381944023 | MYO7A | c.2999A>C (p.Lys1000Thr) c.1064A>C (p.Lys355Thr) c.840A>C c.2966A>C (p.Lys989Thr) c.542A>C (p.Lys181Thr) n.542A>C c.2780A>C (p.Lys927Thr) c.2768A>C (p.Lys923Thr) c.2741A>C (p.Lys914Thr) n.3319A>C n.3321A>C c.3089A>C (p.Lys1030Thr) c.2858A>C (p.Lys953Thr) n.3104A>C | |
| 11 | g.77182045A>G | CA381944025 | MYO7A | c.2999A>G (p.Lys1000Arg) c.1064A>G (p.Lys355Arg) c.840A>G c.2966A>G (p.Lys989Arg) c.542A>G (p.Lys181Arg) n.542A>G c.2780A>G (p.Lys927Arg) c.2768A>G (p.Lys923Arg) c.2741A>G (p.Lys914Arg) n.3319A>G n.3321A>G c.3089A>G (p.Lys1030Arg) c.2858A>G (p.Lys953Arg) n.3104A>G | |
| 11 | g.77182045A>T | CA381944026 | MYO7A | c.2999A>T (p.Lys1000Ile) c.1064A>T (p.Lys355Ile) c.840A>T c.2966A>T (p.Lys989Ile) c.542A>T (p.Lys181Ile) n.542A>T c.2780A>T (p.Lys927Ile) c.2768A>T (p.Lys923Ile) c.2741A>T (p.Lys914Ile) n.3319A>T n.3321A>T c.3089A>T (p.Lys1030Ile) c.2858A>T (p.Lys953Ile) n.3104A>T | gnomAD v4 |
| 11 | g.77182046A>C | CA381944030 | MYO7A | c.3000A>C (p.Lys1000Asn) c.1065A>C (p.Lys355Asn) c.841A>C c.2967A>C (p.Lys989Asn) c.543A>C (p.Lys181Asn) n.543A>C c.2781A>C (p.Lys927Asn) c.2769A>C (p.Lys923Asn) c.2742A>C (p.Lys914Asn) n.3320A>C n.3322A>C c.3090A>C (p.Lys1030Asn) c.2859A>C (p.Lys953Asn) n.3105A>C | |
| 11 | g.77182046A>T | CA381944028 | MYO7A | c.3000A>T (p.Lys1000Asn) c.1065A>T (p.Lys355Asn) c.841A>T c.2967A>T (p.Lys989Asn) c.543A>T (p.Lys181Asn) n.543A>T c.2781A>T (p.Lys927Asn) c.2769A>T (p.Lys923Asn) c.2742A>T (p.Lys914Asn) n.3320A>T n.3322A>T c.3090A>T (p.Lys1030Asn) c.2859A>T (p.Lys953Asn) n.3105A>T | |
| 11 | g.77182047T>A | CA381944031 | MYO7A | c.3001T>A (p.Phe1001Ile) c.1066T>A (p.Phe356Ile) c.842T>A c.2968T>A (p.Phe990Ile) c.544T>A (p.Phe182Ile) n.544T>A c.2782T>A (p.Phe928Ile) c.2770T>A (p.Phe924Ile) c.2743T>A (p.Phe915Ile) n.3321T>A n.3323T>A c.3091T>A (p.Phe1031Ile) c.2860T>A (p.Phe954Ile) n.3106T>A | |
| 11 | g.77182047T>C | CA381944032 | MYO7A | c.3001T>C (p.Phe1001Leu) c.1066T>C (p.Phe356Leu) c.842T>C c.2968T>C (p.Phe990Leu) c.544T>C (p.Phe182Leu) n.544T>C c.2782T>C (p.Phe928Leu) c.2770T>C (p.Phe924Leu) c.2743T>C (p.Phe915Leu) n.3321T>C n.3323T>C c.3091T>C (p.Phe1031Leu) c.2860T>C (p.Phe954Leu) n.3106T>C | |
| 11 | g.77182047T>G | CA381944033 | MYO7A | c.3001T>G (p.Phe1001Val) c.1066T>G (p.Phe356Val) c.842T>G c.2968T>G (p.Phe990Val) c.544T>G (p.Phe182Val) n.544T>G c.2782T>G (p.Phe928Val) c.2770T>G (p.Phe924Val) c.2743T>G (p.Phe915Val) n.3321T>G n.3323T>G c.3091T>G (p.Phe1031Val) c.2860T>G (p.Phe954Val) n.3106T>G | |
| 11 | g.77182048T>A | CA381944035 | MYO7A | c.3002T>A (p.Phe1001Tyr) c.1067T>A (p.Phe356Tyr) c.843T>A c.2969T>A (p.Phe990Tyr) c.545T>A (p.Phe182Tyr) n.545T>A c.2783T>A (p.Phe928Tyr) c.2771T>A (p.Phe924Tyr) c.2744T>A (p.Phe915Tyr) n.3322T>A n.3324T>A c.3092T>A (p.Phe1031Tyr) c.2861T>A (p.Phe954Tyr) n.3107T>A | |
| 11 | g.77182048T>C | CA381944037 | MYO7A | c.3002T>C (p.Phe1001Ser) c.1067T>C (p.Phe356Ser) c.843T>C c.2969T>C (p.Phe990Ser) c.545T>C (p.Phe182Ser) n.545T>C c.2783T>C (p.Phe928Ser) c.2771T>C (p.Phe924Ser) c.2744T>C (p.Phe915Ser) n.3322T>C n.3324T>C c.3092T>C (p.Phe1031Ser) c.2861T>C (p.Phe954Ser) n.3107T>C | |
| 11 | g.77182048T>G | CA224841725 | MYO7A | c.3002T>G (p.Phe1001Cys) c.1067T>G (p.Phe356Cys) c.843T>G c.2969T>G (p.Phe990Cys) c.545T>G (p.Phe182Cys) n.545T>G c.2783T>G (p.Phe928Cys) c.2771T>G (p.Phe924Cys) c.2744T>G (p.Phe915Cys) n.3322T>G n.3324T>G c.3092T>G (p.Phe1031Cys) c.2861T>G (p.Phe954Cys) n.3107T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77182048T= | CA1984113318 | MYO7A | c.3002T= (p.Phe1001=) c.1067T= (p.Phe356=) c.843T= c.2969T= (p.Phe990=) c.545T= (p.Phe182=) n.545T= c.2783T= (p.Phe928=) c.2771T= (p.Phe924=) c.2744T= (p.Phe915=) n.3322T= n.3324T= c.3092T= (p.Phe1031=) c.2861T= (p.Phe954=) n.3107T= | |
| 11 | g.77182049T>A | CA381944041 | MYO7A | c.3003T>A (p.Phe1001Leu) c.1068T>A (p.Phe356Leu) c.844T>A c.2970T>A (p.Phe990Leu) c.546T>A (p.Phe182Leu) n.546T>A c.2784T>A (p.Phe928Leu) c.2772T>A (p.Phe924Leu) c.2745T>A (p.Phe915Leu) n.3323T>A n.3325T>A c.3093T>A (p.Phe1031Leu) c.2862T>A (p.Phe954Leu) n.3108T>A | |
| 11 | g.77182049T>C | CA2548859003 | MYO7A | c.3003T>C (p.Phe1001=) c.1068T>C (p.Phe356=) c.844T>C c.2970T>C (p.Phe990=) c.546T>C (p.Phe182=) n.546T>C c.2784T>C (p.Phe928=) c.2772T>C (p.Phe924=) c.2745T>C (p.Phe915=) n.3323T>C n.3325T>C c.3093T>C (p.Phe1031=) c.2862T>C (p.Phe954=) n.3108T>C | |
| 11 | g.77182049T>G | CA381944039 | MYO7A | c.3003T>G (p.Phe1001Leu) c.1068T>G (p.Phe356Leu) c.844T>G c.2970T>G (p.Phe990Leu) c.546T>G (p.Phe182Leu) n.546T>G c.2784T>G (p.Phe928Leu) c.2772T>G (p.Phe924Leu) c.2745T>G (p.Phe915Leu) n.3323T>G n.3325T>G c.3093T>G (p.Phe1031Leu) c.2862T>G (p.Phe954Leu) n.3108T>G | |
| 11 | g.77182050G>A | CA381944043 | MYO7A | c.3004G>A (p.Ala1002Thr) c.1069G>A (p.Ala357Thr) c.845G>A c.2971G>A (p.Ala991Thr) c.547G>A (p.Ala183Thr) n.547G>A c.2785G>A (p.Ala929Thr) c.2773G>A (p.Ala925Thr) c.2746G>A (p.Ala916Thr) n.3324G>A n.3326G>A c.3094G>A (p.Ala1032Thr) c.2863G>A (p.Ala955Thr) n.3109G>A | |
| 11 | g.77182050G>C | CA381944045 | MYO7A | c.3004G>C (p.Ala1002Pro) c.1069G>C (p.Ala357Pro) c.845G>C c.2971G>C (p.Ala991Pro) c.547G>C (p.Ala183Pro) n.547G>C c.2785G>C (p.Ala929Pro) c.2773G>C (p.Ala925Pro) c.2746G>C (p.Ala916Pro) n.3324G>C n.3326G>C c.3094G>C (p.Ala1032Pro) c.2863G>C (p.Ala955Pro) n.3109G>C | |
| 11 | g.77182050G>T | CA381944047 | MYO7A | c.3004G>T (p.Ala1002Ser) c.1069G>T (p.Ala357Ser) c.845G>T c.2971G>T (p.Ala991Ser) c.547G>T (p.Ala183Ser) n.547G>T c.2785G>T (p.Ala929Ser) c.2773G>T (p.Ala925Ser) c.2746G>T (p.Ala916Ser) n.3324G>T n.3326G>T c.3094G>T (p.Ala1032Ser) c.2863G>T (p.Ala955Ser) n.3109G>T | |
| 11 | g.77182051C>A | CA381944049 | MYO7A | c.3005C>A (p.Ala1002Asp) c.1070C>A (p.Ala357Asp) c.846C>A c.2972C>A (p.Ala991Asp) c.548C>A (p.Ala183Asp) n.548C>A c.2786C>A (p.Ala929Asp) c.2774C>A (p.Ala925Asp) c.2747C>A (p.Ala916Asp) n.3325C>A n.3327C>A c.3095C>A (p.Ala1032Asp) c.2864C>A (p.Ala955Asp) n.3110C>A | |
| 11 | g.77182051C= | CA1984113323 | MYO7A | c.3005C= (p.Ala1002=) c.1070C= (p.Ala357=) c.846C= c.2972C= (p.Ala991=) c.548C= (p.Ala183=) n.548C= c.2786C= (p.Ala929=) c.2774C= (p.Ala925=) c.2747C= (p.Ala916=) n.3325C= n.3327C= c.3095C= (p.Ala1032=) c.2864C= (p.Ala955=) n.3110C= | |
| 11 | g.77182051C>G | CA381944051 | MYO7A | c.3005C>G (p.Ala1002Gly) c.1070C>G (p.Ala357Gly) c.846C>G c.2972C>G (p.Ala991Gly) c.548C>G (p.Ala183Gly) n.548C>G c.2786C>G (p.Ala929Gly) c.2774C>G (p.Ala925Gly) c.2747C>G (p.Ala916Gly) n.3325C>G n.3327C>G c.3095C>G (p.Ala1032Gly) c.2864C>G (p.Ala955Gly) n.3110C>G | |
| 11 | g.77182051C>T | CA381944053 | MYO7A | c.3005C>T (p.Ala1002Val) c.1070C>T (p.Ala357Val) c.846C>T c.2972C>T (p.Ala991Val) c.548C>T (p.Ala183Val) n.548C>T c.2786C>T (p.Ala929Val) c.2774C>T (p.Ala925Val) c.2747C>T (p.Ala916Val) n.3325C>T n.3327C>T c.3095C>T (p.Ala1032Val) c.2864C>T (p.Ala955Val) n.3110C>T | dbSNP |
| 11 | g.77182052C>T | CA2697548827 | MYO7A | c.3006C>T (p.Ala1002=) c.1071C>T (p.Ala357=) c.847C>T c.2973C>T (p.Ala991=) c.549C>T (p.Ala183=) n.549C>T c.2787C>T (p.Ala929=) c.2775C>T (p.Ala925=) c.2748C>T (p.Ala916=) n.3326C>T n.3328C>T c.3096C>T (p.Ala1032=) c.2865C>T (p.Ala955=) n.3111C>T | ClinVar |
| 11 | g.77182053A= | CA1984113326 | MYO7A | c.3007A= (p.Lys1003=) c.1072A= (p.Lys358=) c.848A= c.2974A= (p.Lys992=) c.550A= (p.Lys184=) n.550A= c.2788A= (p.Lys930=) c.2776A= (p.Lys926=) c.2749A= (p.Lys917=) n.3327A= n.3329A= c.3097A= (p.Lys1033=) c.2866A= (p.Lys956=) n.3112A= | |
| 11 | g.77182053A>C | CA381944055 | MYO7A | c.3007A>C (p.Lys1003Gln) c.1072A>C (p.Lys358Gln) c.848A>C c.2974A>C (p.Lys992Gln) c.550A>C (p.Lys184Gln) n.550A>C c.2788A>C (p.Lys930Gln) c.2776A>C (p.Lys926Gln) c.2749A>C (p.Lys917Gln) n.3327A>C n.3329A>C c.3097A>C (p.Lys1033Gln) c.2866A>C (p.Lys956Gln) n.3112A>C | |
| 11 | g.77182053A>G | CA224841728 | MYO7A | c.3007A>G (p.Lys1003Glu) c.1072A>G (p.Lys358Glu) c.848A>G c.2974A>G (p.Lys992Glu) c.550A>G (p.Lys184Glu) n.550A>G c.2788A>G (p.Lys930Glu) c.2776A>G (p.Lys926Glu) c.2749A>G (p.Lys917Glu) n.3327A>G n.3329A>G c.3097A>G (p.Lys1033Glu) c.2866A>G (p.Lys956Glu) n.3112A>G | dbSNP gnomAD v4 |
| 11 | g.77182053A>T | CA381944056 | MYO7A | c.3007A>T (p.Lys1003Ter) c.1072A>T (p.Lys358Ter) c.848A>T c.2974A>T (p.Lys992Ter) c.550A>T (p.Lys184Ter) n.550A>T c.2788A>T (p.Lys930Ter) c.2776A>T (p.Lys926Ter) c.2749A>T (p.Lys917Ter) n.3327A>T n.3329A>T c.3097A>T (p.Lys1033Ter) c.2866A>T (p.Lys956Ter) n.3112A>T |