| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77182032C>A | CA381943974 | MYO7A | c.2986C>A (p.Leu996Ile) c.1051C>A (p.Leu351Ile) c.827C>A c.2953C>A (p.Leu985Ile) c.529C>A (p.Leu177Ile) n.529C>A c.2767C>A (p.Leu923Ile) c.2755C>A (p.Leu919Ile) c.2728C>A (p.Leu910Ile) n.3306C>A n.3308C>A c.3076C>A (p.Leu1026Ile) c.2845C>A (p.Leu949Ile) n.3091C>A | |
| 11 | g.77182032C= | CA1984113294 | MYO7A | c.2986C= (p.Leu996=) c.1051C= (p.Leu351=) c.827C= c.2953C= (p.Leu985=) c.529C= (p.Leu177=) n.529C= c.2767C= (p.Leu923=) c.2755C= (p.Leu919=) c.2728C= (p.Leu910=) n.3306C= n.3308C= c.3076C= (p.Leu1026=) c.2845C= (p.Leu949=) n.3091C= | |
| 11 | g.77182032C>G | CA381943970 | MYO7A | c.2986C>G (p.Leu996Val) c.1051C>G (p.Leu351Val) c.827C>G c.2953C>G (p.Leu985Val) c.529C>G (p.Leu177Val) n.529C>G c.2767C>G (p.Leu923Val) c.2755C>G (p.Leu919Val) c.2728C>G (p.Leu910Val) n.3306C>G n.3308C>G c.3076C>G (p.Leu1026Val) c.2845C>G (p.Leu949Val) n.3091C>G | |
| 11 | g.77182032C>T | CA381943972 | MYO7A | c.2986C>T (p.Leu996Phe) c.1051C>T (p.Leu351Phe) c.827C>T c.2953C>T (p.Leu985Phe) c.529C>T (p.Leu177Phe) n.529C>T c.2767C>T (p.Leu923Phe) c.2755C>T (p.Leu919Phe) c.2728C>T (p.Leu910Phe) n.3306C>T n.3308C>T c.3076C>T (p.Leu1026Phe) c.2845C>T (p.Leu949Phe) n.3091C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77182036_77182037del | CA2615256169 | MYO7A | c.2990_2991del (p.Ser997Ter) c.1055_1056del (p.Ser352Ter) c.831_832del c.2957_2958del (p.Ser986Ter) c.533_534del (p.Ser178Ter) n.533_534del c.2771_2772del (p.Ser924Ter) c.2759_2760del (p.Ser920Ter) c.2732_2733del (p.Ser911Ter) n.3310_3311del n.3312_3313del c.3080_3081del (p.Ser1027Ter) c.2849_2850del (p.Ser950Ter) n.3095_3096del | gnomAD v4 |
| 11 | g.77182033T>A | CA381943976 | MYO7A | c.2987T>A (p.Leu996His) c.1052T>A (p.Leu351His) c.828T>A c.2954T>A (p.Leu985His) c.530T>A (p.Leu177His) n.530T>A c.2768T>A (p.Leu923His) c.2756T>A (p.Leu919His) c.2729T>A (p.Leu910His) n.3307T>A n.3309T>A c.3077T>A (p.Leu1026His) c.2846T>A (p.Leu949His) n.3092T>A | |
| 11 | g.77182033T>C | CA381943978 | MYO7A | c.2987T>C (p.Leu996Pro) c.1052T>C (p.Leu351Pro) c.828T>C c.2954T>C (p.Leu985Pro) c.530T>C (p.Leu177Pro) n.530T>C c.2768T>C (p.Leu923Pro) c.2756T>C (p.Leu919Pro) c.2729T>C (p.Leu910Pro) n.3307T>C n.3309T>C c.3077T>C (p.Leu1026Pro) c.2846T>C (p.Leu949Pro) n.3092T>C | |
| 11 | g.77182033T>G | CA381943979 | MYO7A | c.2987T>G (p.Leu996Arg) c.1052T>G (p.Leu351Arg) c.828T>G c.2954T>G (p.Leu985Arg) c.530T>G (p.Leu177Arg) n.530T>G c.2768T>G (p.Leu923Arg) c.2756T>G (p.Leu919Arg) c.2729T>G (p.Leu910Arg) n.3307T>G n.3309T>G c.3077T>G (p.Leu1026Arg) c.2846T>G (p.Leu949Arg) n.3092T>G | |
| 11 | g.77182034C>A | CA475795571 | MYO7A | c.2988C>A (p.Leu996=) c.1053C>A (p.Leu351=) c.829C>A c.2955C>A (p.Leu985=) c.531C>A (p.Leu177=) n.531C>A c.2769C>A (p.Leu923=) c.2757C>A (p.Leu919=) c.2730C>A (p.Leu910=) n.3308C>A n.3310C>A c.3078C>A (p.Leu1026=) c.2847C>A (p.Leu949=) n.3093C>A | |
| 11 | g.77182034C= | CA1984113299 | MYO7A | c.2988C= (p.Leu996=) c.1053C= (p.Leu351=) c.829C= c.2955C= (p.Leu985=) c.531C= (p.Leu177=) n.531C= c.2769C= (p.Leu923=) c.2757C= (p.Leu919=) c.2730C= (p.Leu910=) n.3308C= n.3310C= c.3078C= (p.Leu1026=) c.2847C= (p.Leu949=) n.3093C= | |
| 11 | g.77182034C>G | CA475795573 | MYO7A | c.2988C>G (p.Leu996=) c.1053C>G (p.Leu351=) c.829C>G c.2955C>G (p.Leu985=) c.531C>G (p.Leu177=) n.531C>G c.2769C>G (p.Leu923=) c.2757C>G (p.Leu919=) c.2730C>G (p.Leu910=) n.3308C>G n.3310C>G c.3078C>G (p.Leu1026=) c.2847C>G (p.Leu949=) n.3093C>G | |
| 11 | g.77182034C>T | CA6197990 | MYO7A | c.2988C>T (p.Leu996=) c.1053C>T (p.Leu351=) c.829C>T c.2955C>T (p.Leu985=) c.531C>T (p.Leu177=) n.531C>T c.2769C>T (p.Leu923=) c.2757C>T (p.Leu919=) c.2730C>T (p.Leu910=) n.3308C>T n.3310C>T c.3078C>T (p.Leu1026=) c.2847C>T (p.Leu949=) n.3093C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.77182035T>A | CA381943983 | MYO7A | c.2989T>A (p.Ser997Thr) c.1054T>A (p.Ser352Thr) c.830T>A c.2956T>A (p.Ser986Thr) c.532T>A (p.Ser178Thr) n.532T>A c.2770T>A (p.Ser924Thr) c.2758T>A (p.Ser920Thr) c.2731T>A (p.Ser911Thr) n.3309T>A n.3311T>A c.3079T>A (p.Ser1027Thr) c.2848T>A (p.Ser950Thr) n.3094T>A | |
| 11 | g.77182035T>C | CA381943985 | MYO7A | c.2989T>C (p.Ser997Pro) c.1054T>C (p.Ser352Pro) c.830T>C c.2956T>C (p.Ser986Pro) c.532T>C (p.Ser178Pro) n.532T>C c.2770T>C (p.Ser924Pro) c.2758T>C (p.Ser920Pro) c.2731T>C (p.Ser911Pro) n.3309T>C n.3311T>C c.3079T>C (p.Ser1027Pro) c.2848T>C (p.Ser950Pro) n.3094T>C | gnomAD v4 |
| 11 | g.77182035T>G | CA381943986 | MYO7A | c.2989T>G (p.Ser997Ala) c.1054T>G (p.Ser352Ala) c.830T>G c.2956T>G (p.Ser986Ala) c.532T>G (p.Ser178Ala) n.532T>G c.2770T>G (p.Ser924Ala) c.2758T>G (p.Ser920Ala) c.2731T>G (p.Ser911Ala) n.3309T>G n.3311T>G c.3079T>G (p.Ser1027Ala) c.2848T>G (p.Ser950Ala) n.3094T>G | |
| 11 | g.77182036C>A | CA381943988 | MYO7A | c.2990C>A (p.Ser997Tyr) c.1055C>A (p.Ser352Tyr) c.831C>A c.2957C>A (p.Ser986Tyr) c.533C>A (p.Ser178Tyr) n.533C>A c.2771C>A (p.Ser924Tyr) c.2759C>A (p.Ser920Tyr) c.2732C>A (p.Ser911Tyr) n.3310C>A n.3312C>A c.3080C>A (p.Ser1027Tyr) c.2849C>A (p.Ser950Tyr) n.3095C>A | |
| 11 | g.77182036C>G | CA381943990 | MYO7A | c.2990C>G (p.Ser997Cys) c.1055C>G (p.Ser352Cys) c.831C>G c.2957C>G (p.Ser986Cys) c.533C>G (p.Ser178Cys) n.533C>G c.2771C>G (p.Ser924Cys) c.2759C>G (p.Ser920Cys) c.2732C>G (p.Ser911Cys) n.3310C>G n.3312C>G c.3080C>G (p.Ser1027Cys) c.2849C>G (p.Ser950Cys) n.3095C>G | |
| 11 | g.77182036C>T | CA381943991 | MYO7A | c.2990C>T (p.Ser997Phe) c.1055C>T (p.Ser352Phe) c.831C>T c.2957C>T (p.Ser986Phe) c.533C>T (p.Ser178Phe) n.533C>T c.2771C>T (p.Ser924Phe) c.2759C>T (p.Ser920Phe) c.2732C>T (p.Ser911Phe) n.3310C>T n.3312C>T c.3080C>T (p.Ser1027Phe) c.2849C>T (p.Ser950Phe) n.3095C>T | |
| 11 | g.77182037T>C | CA2574931364 | MYO7A | c.2991T>C (p.Ser997=) c.1056T>C (p.Ser352=) c.832T>C c.2958T>C (p.Ser986=) c.534T>C (p.Ser178=) n.534T>C c.2772T>C (p.Ser924=) c.2760T>C (p.Ser920=) c.2733T>C (p.Ser911=) n.3311T>C n.3313T>C c.3081T>C (p.Ser1027=) c.2850T>C (p.Ser950=) n.3096T>C | ClinVar |
| 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 | |
| 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 |