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.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 | |
| 11 | g.77182054A>C | CA381944059 | MYO7A | c.3008A>C (p.Lys1003Thr) c.1073A>C (p.Lys358Thr) c.849A>C c.2975A>C (p.Lys992Thr) c.551A>C (p.Lys184Thr) n.551A>C c.2789A>C (p.Lys930Thr) c.2777A>C (p.Lys926Thr) c.2750A>C (p.Lys917Thr) n.3328A>C n.3330A>C c.3098A>C (p.Lys1033Thr) c.2867A>C (p.Lys956Thr) n.3113A>C | |
| 11 | g.77182054A>G | CA381944061 | MYO7A | c.3008A>G (p.Lys1003Arg) c.1073A>G (p.Lys358Arg) c.849A>G c.2975A>G (p.Lys992Arg) c.551A>G (p.Lys184Arg) n.551A>G c.2789A>G (p.Lys930Arg) c.2777A>G (p.Lys926Arg) c.2750A>G (p.Lys917Arg) n.3328A>G n.3330A>G c.3098A>G (p.Lys1033Arg) c.2867A>G (p.Lys956Arg) n.3113A>G | gnomAD v4 |
| 11 | g.77182054A>T | CA381944062 | MYO7A | c.3008A>T (p.Lys1003Met) c.1073A>T (p.Lys358Met) c.849A>T c.2975A>T (p.Lys992Met) c.551A>T (p.Lys184Met) n.551A>T c.2789A>T (p.Lys930Met) c.2777A>T (p.Lys926Met) c.2750A>T (p.Lys917Met) n.3328A>T n.3330A>T c.3098A>T (p.Lys1033Met) c.2867A>T (p.Lys956Met) n.3113A>T | |
| 11 | g.77182055G>C | CA381944064 | MYO7A | c.3009G>C (p.Lys1003Asn) c.1074G>C (p.Lys358Asn) c.850G>C c.2976G>C (p.Lys992Asn) c.552G>C (p.Lys184Asn) n.552G>C c.2790G>C (p.Lys930Asn) c.2778G>C (p.Lys926Asn) c.2751G>C (p.Lys917Asn) n.3329G>C n.3331G>C c.3099G>C (p.Lys1033Asn) c.2868G>C (p.Lys956Asn) n.3114G>C | gnomAD v4 |
| 11 | g.77182055G>T | CA381944066 | MYO7A | c.3009G>T (p.Lys1003Asn) c.1074G>T (p.Lys358Asn) c.850G>T c.2976G>T (p.Lys992Asn) c.552G>T (p.Lys184Asn) n.552G>T c.2790G>T (p.Lys930Asn) c.2778G>T (p.Lys926Asn) c.2751G>T (p.Lys917Asn) n.3329G>T n.3331G>T c.3099G>T (p.Lys1033Asn) c.2868G>T (p.Lys956Asn) n.3114G>T | |
| 11 | g.77182056T>A | CA381944071 | MYO7A | c.3010T>A (p.Phe1004Ile) c.1075T>A (p.Phe359Ile) c.851T>A c.2977T>A (p.Phe993Ile) c.553T>A (p.Phe185Ile) n.553T>A c.2791T>A (p.Phe931Ile) c.2779T>A (p.Phe927Ile) c.2752T>A (p.Phe918Ile) n.3330T>A n.3332T>A c.3100T>A (p.Phe1034Ile) c.2869T>A (p.Phe957Ile) n.3115T>A | |
| 11 | g.77182056T>C | CA381944070 | MYO7A | c.3010T>C (p.Phe1004Leu) c.1075T>C (p.Phe359Leu) c.851T>C c.2977T>C (p.Phe993Leu) c.553T>C (p.Phe185Leu) n.553T>C c.2791T>C (p.Phe931Leu) c.2779T>C (p.Phe927Leu) c.2752T>C (p.Phe918Leu) n.3330T>C n.3332T>C c.3100T>C (p.Phe1034Leu) c.2869T>C (p.Phe957Leu) n.3115T>C | |
| 11 | g.77182056T>G | CA381944068 | MYO7A | c.3010T>G (p.Phe1004Val) c.1075T>G (p.Phe359Val) c.851T>G c.2977T>G (p.Phe993Val) c.553T>G (p.Phe185Val) n.553T>G c.2791T>G (p.Phe931Val) c.2779T>G (p.Phe927Val) c.2752T>G (p.Phe918Val) n.3330T>G n.3332T>G c.3100T>G (p.Phe1034Val) c.2869T>G (p.Phe957Val) n.3115T>G | |
| 11 | g.77182057T>A | CA381944074 | MYO7A | c.3011T>A (p.Phe1004Tyr) c.1076T>A (p.Phe359Tyr) c.852T>A c.2978T>A (p.Phe993Tyr) c.554T>A (p.Phe185Tyr) n.554T>A c.2792T>A (p.Phe931Tyr) c.2780T>A (p.Phe927Tyr) c.2753T>A (p.Phe918Tyr) n.3331T>A n.3333T>A c.3101T>A (p.Phe1034Tyr) c.2870T>A (p.Phe957Tyr) n.3116T>A | dbSNP |
| 11 | g.77182057T>C | CA381944076 | MYO7A | c.3011T>C (p.Phe1004Ser) c.1076T>C (p.Phe359Ser) c.852T>C c.2978T>C (p.Phe993Ser) c.554T>C (p.Phe185Ser) n.554T>C c.2792T>C (p.Phe931Ser) c.2780T>C (p.Phe927Ser) c.2753T>C (p.Phe918Ser) n.3331T>C n.3333T>C c.3101T>C (p.Phe1034Ser) c.2870T>C (p.Phe957Ser) n.3116T>C | |
| 11 | g.77182057T>G | CA381944077 | MYO7A | c.3011T>G (p.Phe1004Cys) c.1076T>G (p.Phe359Cys) c.852T>G c.2978T>G (p.Phe993Cys) c.554T>G (p.Phe185Cys) n.554T>G c.2792T>G (p.Phe931Cys) c.2780T>G (p.Phe927Cys) c.2753T>G (p.Phe918Cys) n.3331T>G n.3333T>G c.3101T>G (p.Phe1034Cys) c.2870T>G (p.Phe957Cys) n.3116T>G | |
| 11 | g.77182057T= | CA1984113331 | MYO7A | c.3011T= (p.Phe1004=) c.1076T= (p.Phe359=) c.852T= c.2978T= (p.Phe993=) c.554T= (p.Phe185=) n.554T= c.2792T= (p.Phe931=) c.2780T= (p.Phe927=) c.2753T= (p.Phe918=) n.3331T= n.3333T= c.3101T= (p.Phe1034=) c.2870T= (p.Phe957=) n.3116T= | |
| 11 | g.77182058C>A | CA381944079 | MYO7A | c.3012C>A (p.Phe1004Leu) c.1077C>A (p.Phe359Leu) c.853C>A c.2979C>A (p.Phe993Leu) c.555C>A (p.Phe185Leu) n.555C>A c.2793C>A (p.Phe931Leu) c.2781C>A (p.Phe927Leu) c.2754C>A (p.Phe918Leu) n.3332C>A n.3334C>A c.3102C>A (p.Phe1034Leu) c.2871C>A (p.Phe957Leu) n.3117C>A | |
| 11 | g.77182058C= | CA1984113336 | MYO7A | c.3012C= (p.Phe1004=) c.1077C= (p.Phe359=) c.853C= c.2979C= (p.Phe993=) c.555C= (p.Phe185=) n.555C= c.2793C= (p.Phe931=) c.2781C= (p.Phe927=) c.2754C= (p.Phe918=) n.3332C= n.3334C= c.3102C= (p.Phe1034=) c.2871C= (p.Phe957=) n.3117C= | |
| 11 | g.77182058C>G | CA381944081 | MYO7A | c.3012C>G (p.Phe1004Leu) c.1077C>G (p.Phe359Leu) c.853C>G c.2979C>G (p.Phe993Leu) c.555C>G (p.Phe185Leu) n.555C>G c.2793C>G (p.Phe931Leu) c.2781C>G (p.Phe927Leu) c.2754C>G (p.Phe918Leu) n.3332C>G n.3334C>G c.3102C>G (p.Phe1034Leu) c.2871C>G (p.Phe957Leu) n.3117C>G | |
| 11 | g.77182058C>T | CA224841731 | MYO7A | c.3012C>T (p.Phe1004=) c.1077C>T (p.Phe359=) c.853C>T c.2979C>T (p.Phe993=) c.555C>T (p.Phe185=) n.555C>T c.2793C>T (p.Phe931=) c.2781C>T (p.Phe927=) c.2754C>T (p.Phe918=) n.3332C>T n.3334C>T c.3102C>T (p.Phe1034=) c.2871C>T (p.Phe957=) n.3117C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.77182059G>A | CA381944084 | MYO7A | c.3013G>A (p.Ala1005Thr) c.1078G>A (p.Ala360Thr) c.854G>A c.2980G>A (p.Ala994Thr) c.556G>A (p.Ala186Thr) n.556G>A c.2794G>A (p.Ala932Thr) c.2782G>A (p.Ala928Thr) c.2755G>A (p.Ala919Thr) n.3333G>A n.3335G>A c.3103G>A (p.Ala1035Thr) c.2872G>A (p.Ala958Thr) n.3118G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77182059G>C | CA381944087 | MYO7A | c.3013G>C (p.Ala1005Pro) c.1078G>C (p.Ala360Pro) c.854G>C c.2980G>C (p.Ala994Pro) c.556G>C (p.Ala186Pro) n.556G>C c.2794G>C (p.Ala932Pro) c.2782G>C (p.Ala928Pro) c.2755G>C (p.Ala919Pro) n.3333G>C n.3335G>C c.3103G>C (p.Ala1035Pro) c.2872G>C (p.Ala958Pro) n.3118G>C | dbSNP gnomAD v4 |
| 11 | g.77182059G= | CA1984113342 | MYO7A | c.3013G= (p.Ala1005=) c.1078G= (p.Ala360=) c.854G= c.2980G= (p.Ala994=) c.556G= (p.Ala186=) n.556G= c.2794G= (p.Ala932=) c.2782G= (p.Ala928=) c.2755G= (p.Ala919=) n.3333G= n.3335G= c.3103G= (p.Ala1035=) c.2872G= (p.Ala958=) n.3118G= | |
| 11 | g.77182059G>T | CA381944086 | MYO7A | c.3013G>T (p.Ala1005Ser) c.1078G>T (p.Ala360Ser) c.854G>T c.2980G>T (p.Ala994Ser) c.556G>T (p.Ala186Ser) n.556G>T c.2794G>T (p.Ala932Ser) c.2782G>T (p.Ala928Ser) c.2755G>T (p.Ala919Ser) n.3333G>T n.3335G>T c.3103G>T (p.Ala1035Ser) c.2872G>T (p.Ala958Ser) n.3118G>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77182060C>A | CA381944090 | MYO7A | c.3014C>A (p.Ala1005Glu) c.1079C>A (p.Ala360Glu) c.855C>A c.2981C>A (p.Ala994Glu) c.557C>A (p.Ala186Glu) n.557C>A c.2795C>A (p.Ala932Glu) c.2783C>A (p.Ala928Glu) c.2756C>A (p.Ala919Glu) n.3334C>A n.3336C>A c.3104C>A (p.Ala1035Glu) c.2873C>A (p.Ala958Glu) n.3119C>A | |
| 11 | g.77182060C= | CA1984113344 | MYO7A | c.3014C= (p.Ala1005=) c.1079C= (p.Ala360=) c.855C= c.2981C= (p.Ala994=) c.557C= (p.Ala186=) n.557C= c.2795C= (p.Ala932=) c.2783C= (p.Ala928=) c.2756C= (p.Ala919=) n.3334C= n.3336C= c.3104C= (p.Ala1035=) c.2873C= (p.Ala958=) n.3119C= | |
| 11 | g.77182060C>G | CA381944091 | MYO7A | c.3014C>G (p.Ala1005Gly) c.1079C>G (p.Ala360Gly) c.855C>G c.2981C>G (p.Ala994Gly) c.557C>G (p.Ala186Gly) n.557C>G c.2795C>G (p.Ala932Gly) c.2783C>G (p.Ala928Gly) c.2756C>G (p.Ala919Gly) n.3334C>G n.3336C>G c.3104C>G (p.Ala1035Gly) c.2873C>G (p.Ala958Gly) n.3119C>G |