Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.77182036_77182037delCA2615256169MYO7Ac.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
11g.77182034C>ACA475795571MYO7Ac.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
11g.77182034C=CA1984113299MYO7Ac.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=
11g.77182034C>GCA475795573MYO7Ac.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
11g.77182034C>TCA6197990MYO7Ac.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
11g.77182035T>ACA381943983MYO7Ac.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
11g.77182035T>CCA381943985MYO7Ac.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
11g.77182035T>GCA381943986MYO7Ac.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
11g.77182036C>ACA381943988MYO7Ac.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
11g.77182036C>GCA381943990MYO7Ac.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
11g.77182036C>TCA381943991MYO7Ac.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
11g.77182037T>CCA2574931364MYO7Ac.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
11g.77182037_77182038delCA2695198939MYO7Ac.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
11g.77182038G>ACA381943992MYO7Ac.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
11g.77182038G>CCA381943994MYO7Ac.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
11g.77182038G>TCA381943995MYO7Ac.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
11g.77182039A>CCA381943999MYO7Ac.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
11g.77182039A>GCA381944000MYO7Ac.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
11g.77182039A>TCA381943997MYO7Ac.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
11g.77182040G>ACA224841720MYO7Ac.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
11g.77182040G>CCA381944005MYO7Ac.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
11g.77182040G=CA1984113304MYO7Ac.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=
11g.77182040G>TCA381944003MYO7Ac.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
11g.77182041T>ACA381944006MYO7Ac.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
11g.77182041T>CCA381944007MYO7Ac.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
11g.77182041T>GCA381944008MYO7Ac.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
11g.77182042A>CCA381944010MYO7Ac.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
11g.77182042A>GCA381944012MYO7Ac.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
11g.77182042A>TCA381944013MYO7Ac.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
11g.77182043T>ACA381944015MYO7Ac.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
11g.77182043T>GCA381944017MYO7Ac.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
11g.77182044A=CA1984113310MYO7Ac.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=
11g.77182044A>CCA224841722MYO7Ac.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
11g.77182044A>GCA381944020MYO7Ac.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
11g.77182044A>TCA381944022MYO7Ac.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
11g.77182045A>CCA381944023MYO7Ac.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
11g.77182045A>GCA381944025MYO7Ac.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
11g.77182045A>TCA381944026MYO7Ac.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
11g.77182046A>CCA381944030MYO7Ac.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
11g.77182046A>TCA381944028MYO7Ac.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
11g.77182047T>ACA381944031MYO7Ac.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
11g.77182047T>CCA381944032MYO7Ac.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
11g.77182047T>GCA381944033MYO7Ac.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
11g.77182048T>ACA381944035MYO7Ac.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
11g.77182048T>CCA381944037MYO7Ac.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
11g.77182048T>GCA224841725MYO7Ac.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
11g.77182048T=CA1984113318MYO7Ac.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=
11g.77182049T>ACA381944041MYO7Ac.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
11g.77182049T>CCA2548859003MYO7Ac.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
11g.77182049T>GCA381944039MYO7Ac.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
11g.77182050G>ACA381944043MYO7Ac.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
11g.77182050G>CCA381944045MYO7Ac.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
11g.77182050G>TCA381944047MYO7Ac.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
11g.77182051C>ACA381944049MYO7Ac.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
11g.77182051C=CA1984113323MYO7Ac.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=
11g.77182051C>GCA381944051MYO7Ac.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
11g.77182051C>TCA381944053MYO7Ac.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
11g.77182052C>TCA2697548827MYO7Ac.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
11g.77182053A=CA1984113326MYO7Ac.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=
11g.77182053A>CCA381944055MYO7Ac.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
11g.77182053A>GCA224841728MYO7Ac.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
11g.77182053A>TCA381944056MYO7Ac.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
11g.77182054A>CCA381944059MYO7Ac.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
11g.77182054A>GCA381944061MYO7Ac.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
11g.77182054A>TCA381944062MYO7Ac.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
11g.77182055G>CCA381944064MYO7Ac.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
11g.77182055G>TCA381944066MYO7Ac.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
 ClinVar
11g.77182056T>ACA381944071MYO7Ac.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
11g.77182056T>CCA381944070MYO7Ac.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
11g.77182056T>GCA381944068MYO7Ac.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
11g.77182057T>ACA381944074MYO7Ac.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
11g.77182057T>CCA381944076MYO7Ac.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
11g.77182057T>GCA381944077MYO7Ac.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
11g.77182057T=CA1984113331MYO7Ac.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=
11g.77182058C>ACA381944079MYO7Ac.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
11g.77182058C=CA1984113336MYO7Ac.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=
11g.77182058C>GCA381944081MYO7Ac.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
11g.77182058C>TCA224841731MYO7Ac.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
11g.77182059G>ACA381944084MYO7Ac.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
11g.77182059G>CCA381944087MYO7Ac.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
11g.77182059G=CA1984113342MYO7Ac.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=
11g.77182059G>TCA381944086MYO7Ac.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
11g.77182060C>ACA381944090MYO7Ac.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
11g.77182060C=CA1984113344MYO7Ac.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=
11g.77182060C>GCA381944091MYO7Ac.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
11g.77182060C>TCA224841733MYO7Ac.3014C>T (p.Ala1005Val)
c.1079C>T (p.Ala360Val)
c.855C>T
c.2981C>T (p.Ala994Val)
c.557C>T (p.Ala186Val)
n.557C>T
c.2795C>T (p.Ala932Val)
c.2783C>T (p.Ala928Val)
c.2756C>T (p.Ala919Val)
n.3334C>T
n.3336C>T
c.3104C>T (p.Ala1035Val)
c.2873C>T (p.Ala958Val)
n.3119C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77182061G>ACA224841736MYO7Ac.3015G>A (p.Ala1005=)
c.1080G>A (p.Ala360=)
c.856G>A
c.2982G>A (p.Ala994=)
c.558G>A (p.Ala186=)
n.558G>A
c.2796G>A (p.Ala932=)
c.2784G>A (p.Ala928=)
c.2757G>A (p.Ala919=)
n.3335G>A
n.3337G>A
c.3105G>A (p.Ala1035=)
c.2874G>A (p.Ala958=)
n.3120G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77182061G>CCA1984113351MYO7Ac.3015G>C (p.Ala1005=)
c.1080G>C (p.Ala360=)
c.856G>C
c.2982G>C (p.Ala994=)
c.558G>C (p.Ala186=)
n.558G>C
c.2796G>C (p.Ala932=)
c.2784G>C (p.Ala928=)
c.2757G>C (p.Ala919=)
n.3335G>C
n.3337G>C
c.3105G>C (p.Ala1035=)
c.2874G>C (p.Ala958=)
n.3120G>C
 ClinVar dbSNP gnomAD v4
11g.77182061G=CA1984113353MYO7Ac.3015G= (p.Ala1005=)
c.1080G= (p.Ala360=)
c.856G=
c.2982G= (p.Ala994=)
c.558G= (p.Ala186=)
n.558G=
c.2796G= (p.Ala932=)
c.2784G= (p.Ala928=)
c.2757G= (p.Ala919=)
n.3335G=
n.3337G=
c.3105G= (p.Ala1035=)
c.2874G= (p.Ala958=)
n.3120G=
11g.77182061G>TCA2527270469MYO7Ac.3015G>T (p.Ala1005=)
c.1080G>T (p.Ala360=)
c.856G>T
c.2982G>T (p.Ala994=)
c.558G>T (p.Ala186=)
n.558G>T
c.2796G>T (p.Ala932=)
c.2784G>T (p.Ala928=)
c.2757G>T (p.Ala919=)
n.3335G>T
n.3337G>T
c.3105G>T (p.Ala1035=)
c.2874G>T (p.Ala958=)
n.3120G>T
 ClinVar
11g.77182062dupCA2615256249MYO7Ac.3016dup (p.Ala1006GlyfsTer25)
c.1081dup (p.Ala361GlyfsTer25)
c.857dup
c.2983dup (p.Ala995GlyfsTer25)
c.559dup (p.Ala187GlyfsTer25)
n.559dup
c.2797dup (p.Ala933GlyfsTer25)
c.2785dup (p.Ala929GlyfsTer25)
c.2758dup (p.Ala920GlyfsTer25)
n.3336dup
n.3338dup
c.3106dup (p.Ala1036GlyfsTer25)
c.2875dup (p.Ala959GlyfsTer25)
n.3121dup
 gnomAD v4
11g.77182062G>ACA381944095MYO7Ac.3016G>A (p.Ala1006Thr)
c.1081G>A (p.Ala361Thr)
c.857G>A
c.2983G>A (p.Ala995Thr)
c.559G>A (p.Ala187Thr)
n.559G>A
c.2797G>A (p.Ala933Thr)
c.2785G>A (p.Ala929Thr)
c.2758G>A (p.Ala920Thr)
n.3336G>A
n.3338G>A
c.3106G>A (p.Ala1036Thr)
c.2875G>A (p.Ala959Thr)
n.3121G>A
 dbSNP
11g.77182062G>CCA381944097MYO7Ac.3016G>C (p.Ala1006Pro)
c.1081G>C (p.Ala361Pro)
c.857G>C
c.2983G>C (p.Ala995Pro)
c.559G>C (p.Ala187Pro)
n.559G>C
c.2797G>C (p.Ala933Pro)
c.2785G>C (p.Ala929Pro)
c.2758G>C (p.Ala920Pro)
n.3336G>C
n.3338G>C
c.3106G>C (p.Ala1036Pro)
c.2875G>C (p.Ala959Pro)
n.3121G>C
11g.77182062G=CA1984113358MYO7Ac.3016G= (p.Ala1006=)
c.1081G= (p.Ala361=)
c.857G=
c.2983G= (p.Ala995=)
c.559G= (p.Ala187=)
n.559G=
c.2797G= (p.Ala933=)
c.2785G= (p.Ala929=)
c.2758G= (p.Ala920=)
n.3336G=
n.3338G=
c.3106G= (p.Ala1036=)
c.2875G= (p.Ala959=)
n.3121G=
11g.77182062G>TCA381944098MYO7Ac.3016G>T (p.Ala1006Ser)
c.1081G>T (p.Ala361Ser)
c.857G>T
c.2983G>T (p.Ala995Ser)
c.559G>T (p.Ala187Ser)
n.559G>T
c.2797G>T (p.Ala933Ser)
c.2785G>T (p.Ala929Ser)
c.2758G>T (p.Ala920Ser)
n.3336G>T
n.3338G>T
c.3106G>T (p.Ala1036Ser)
c.2875G>T (p.Ala959Ser)
n.3121G>T
 gnomAD v4
11g.77182063C>ACA381944100MYO7Ac.3017C>A (p.Ala1006Asp)
c.1082C>A (p.Ala361Asp)
c.858C>A
c.2984C>A (p.Ala995Asp)
c.560C>A (p.Ala187Asp)
n.560C>A
c.2798C>A (p.Ala933Asp)
c.2786C>A (p.Ala929Asp)
c.2759C>A (p.Ala920Asp)
n.3337C>A
n.3339C>A
c.3107C>A (p.Ala1036Asp)
c.2876C>A (p.Ala959Asp)
n.3122C>A
11g.77182063C>GCA381944102MYO7Ac.3017C>G (p.Ala1006Gly)
c.1082C>G (p.Ala361Gly)
c.858C>G
c.2984C>G (p.Ala995Gly)
c.560C>G (p.Ala187Gly)
n.560C>G
c.2798C>G (p.Ala933Gly)
c.2786C>G (p.Ala929Gly)
c.2759C>G (p.Ala920Gly)
n.3337C>G
n.3339C>G
c.3107C>G (p.Ala1036Gly)
c.2876C>G (p.Ala959Gly)
n.3122C>G
11g.77182063C>TCA381944104MYO7Ac.3017C>T (p.Ala1006Val)
c.1082C>T (p.Ala361Val)
c.858C>T
c.2984C>T (p.Ala995Val)
c.560C>T (p.Ala187Val)
n.560C>T
c.2798C>T (p.Ala933Val)
c.2786C>T (p.Ala929Val)
c.2759C>T (p.Ala920Val)
n.3337C>T
n.3339C>T
c.3107C>T (p.Ala1036Val)
c.2876C>T (p.Ala959Val)
n.3122C>T
 gnomAD v4
11g.77182064C=CA1984113361MYO7Ac.3018C= (p.Ala1006=)
c.1083C= (p.Ala361=)
c.859C=
c.2985C= (p.Ala995=)
c.561C= (p.Ala187=)
n.561C=
c.2799C= (p.Ala933=)
c.2787C= (p.Ala929=)
c.2760C= (p.Ala920=)
n.3338C=
n.3340C=
c.3108C= (p.Ala1036=)
c.2877C= (p.Ala959=)
n.3123C=
11g.77182064C>TCA680371224MYO7Ac.3018C>T (p.Ala1006=)
c.1083C>T (p.Ala361=)
c.859C>T
c.2985C>T (p.Ala995=)
c.561C>T (p.Ala187=)
n.561C>T
c.2799C>T (p.Ala933=)
c.2787C>T (p.Ala929=)
c.2760C>T (p.Ala920=)
n.3338C>T
n.3340C>T
c.3108C>T (p.Ala1036=)
c.2877C>T (p.Ala959=)
n.3123C>T
 ClinVar dbSNP gnomAD v4
11g.77182065A>CCA381944106MYO7Ac.3019A>C (p.Thr1007Pro)
c.1084A>C (p.Thr362Pro)
c.860A>C
c.2986A>C (p.Thr996Pro)
c.562A>C (p.Thr188Pro)
n.562A>C
c.2800A>C (p.Thr934Pro)
c.2788A>C (p.Thr930Pro)
c.2761A>C (p.Thr921Pro)
n.3339A>C
n.3341A>C
c.3109A>C (p.Thr1037Pro)
c.2878A>C (p.Thr960Pro)
n.3124A>C
11g.77182065A>GCA381944109MYO7Ac.3019A>G (p.Thr1007Ala)
c.1084A>G (p.Thr362Ala)
c.860A>G
c.2986A>G (p.Thr996Ala)
c.562A>G (p.Thr188Ala)
n.562A>G
c.2800A>G (p.Thr934Ala)
c.2788A>G (p.Thr930Ala)
c.2761A>G (p.Thr921Ala)
n.3339A>G
n.3341A>G
c.3109A>G (p.Thr1037Ala)
c.2878A>G (p.Thr960Ala)
n.3124A>G
11g.77182065A>TCA381944108MYO7Ac.3019A>T (p.Thr1007Ser)
c.1084A>T (p.Thr362Ser)
c.860A>T
c.2986A>T (p.Thr996Ser)
c.562A>T (p.Thr188Ser)
n.562A>T
c.2800A>T (p.Thr934Ser)
c.2788A>T (p.Thr930Ser)
c.2761A>T (p.Thr921Ser)
n.3339A>T
n.3341A>T
c.3109A>T (p.Thr1037Ser)
c.2878A>T (p.Thr960Ser)
n.3124A>T
11g.77182066C>ACA381944111MYO7Ac.3020C>A (p.Thr1007Asn)
c.1085C>A (p.Thr362Asn)
c.861C>A
c.2987C>A (p.Thr996Asn)
c.563C>A (p.Thr188Asn)
n.563C>A
c.2801C>A (p.Thr934Asn)
c.2789C>A (p.Thr930Asn)
c.2762C>A (p.Thr921Asn)
n.3340C>A
n.3342C>A
c.3110C>A (p.Thr1037Asn)
c.2879C>A (p.Thr960Asn)
n.3125C>A
11g.77182066C>GCA381944113MYO7Ac.3020C>G (p.Thr1007Ser)
c.1085C>G (p.Thr362Ser)
c.861C>G
c.2987C>G (p.Thr996Ser)
c.563C>G (p.Thr188Ser)
n.563C>G
c.2801C>G (p.Thr934Ser)
c.2789C>G (p.Thr930Ser)
c.2762C>G (p.Thr921Ser)
n.3340C>G
n.3342C>G
c.3110C>G (p.Thr1037Ser)
c.2879C>G (p.Thr960Ser)
n.3125C>G
 gnomAD v4
11g.77182066C>TCA381944115MYO7Ac.3020C>T (p.Thr1007Ile)
c.1085C>T (p.Thr362Ile)
c.861C>T
c.2987C>T (p.Thr996Ile)
c.563C>T (p.Thr188Ile)
n.563C>T
c.2801C>T (p.Thr934Ile)
c.2789C>T (p.Thr930Ile)
c.2762C>T (p.Thr921Ile)
n.3340C>T
n.3342C>T
c.3110C>T (p.Thr1037Ile)
c.2879C>T (p.Thr960Ile)
n.3125C>T
 gnomAD v4
11g.77182067C>GCA2615256282MYO7Ac.3021C>G (p.Thr1007=)
c.1086C>G (p.Thr362=)
c.862C>G
c.2988C>G (p.Thr996=)
c.564C>G (p.Thr188=)
n.564C>G
c.2802C>G (p.Thr934=)
c.2790C>G (p.Thr930=)
c.2763C>G (p.Thr921=)
n.3341C>G
n.3343C>G
c.3111C>G (p.Thr1037=)
c.2880C>G (p.Thr960=)
n.3126C>G
 gnomAD v4
11g.77182067C>TCA2548246919MYO7Ac.3021C>T (p.Thr1007=)
c.1086C>T (p.Thr362=)
c.862C>T
c.2988C>T (p.Thr996=)
c.564C>T (p.Thr188=)
n.564C>T
c.2802C>T (p.Thr934=)
c.2790C>T (p.Thr930=)
c.2763C>T (p.Thr921=)
n.3341C>T
n.3343C>T
c.3111C>T (p.Thr1037=)
c.2880C>T (p.Thr960=)
n.3126C>T
 gnomAD v4
11g.77182068T>ACA381944117MYO7Ac.3022T>A (p.Tyr1008Asn)
c.1087T>A (p.Tyr363Asn)
c.863T>A
c.2989T>A (p.Tyr997Asn)
c.565T>A (p.Tyr189Asn)
n.565T>A
c.2803T>A (p.Tyr935Asn)
c.2791T>A (p.Tyr931Asn)
c.2764T>A (p.Tyr922Asn)
n.3342T>A
n.3344T>A
c.3112T>A (p.Tyr1038Asn)
c.2881T>A (p.Tyr961Asn)
n.3127T>A
11g.77182068T>CCA381944119MYO7Ac.3022T>C (p.Tyr1008His)
c.1087T>C (p.Tyr363His)
c.863T>C
c.2989T>C (p.Tyr997His)
c.565T>C (p.Tyr189His)
n.565T>C
c.2803T>C (p.Tyr935His)
c.2791T>C (p.Tyr931His)
c.2764T>C (p.Tyr922His)
n.3342T>C
n.3344T>C
c.3112T>C (p.Tyr1038His)
c.2881T>C (p.Tyr961His)
n.3127T>C
11g.77182068T>GCA381944120MYO7Ac.3022T>G (p.Tyr1008Asp)
c.1087T>G (p.Tyr363Asp)
c.863T>G
c.2989T>G (p.Tyr997Asp)
c.565T>G (p.Tyr189Asp)
n.565T>G
c.2803T>G (p.Tyr935Asp)
c.2791T>G (p.Tyr931Asp)
c.2764T>G (p.Tyr922Asp)
n.3342T>G
n.3344T>G
c.3112T>G (p.Tyr1038Asp)
c.2881T>G (p.Tyr961Asp)
n.3127T>G
11g.77182069A>CCA381944125MYO7Ac.3023A>C (p.Tyr1008Ser)
c.1088A>C (p.Tyr363Ser)
c.864A>C
c.2990A>C (p.Tyr997Ser)
c.566A>C (p.Tyr189Ser)
n.566A>C
c.2804A>C (p.Tyr935Ser)
c.2792A>C (p.Tyr931Ser)
c.2765A>C (p.Tyr922Ser)
n.3343A>C
n.3345A>C
c.3113A>C (p.Tyr1038Ser)
c.2882A>C (p.Tyr961Ser)
n.3128A>C
11g.77182069A>GCA381944124MYO7Ac.3023A>G (p.Tyr1008Cys)
c.1088A>G (p.Tyr363Cys)
c.864A>G
c.2990A>G (p.Tyr997Cys)
c.566A>G (p.Tyr189Cys)
n.566A>G
c.2804A>G (p.Tyr935Cys)
c.2792A>G (p.Tyr931Cys)
c.2765A>G (p.Tyr922Cys)
n.3343A>G
n.3345A>G
c.3113A>G (p.Tyr1038Cys)
c.2882A>G (p.Tyr961Cys)
n.3128A>G
 ClinVar
11g.77182069A>TCA381944122MYO7Ac.3023A>T (p.Tyr1008Phe)
c.1088A>T (p.Tyr363Phe)
c.864A>T
c.2990A>T (p.Tyr997Phe)
c.566A>T (p.Tyr189Phe)
n.566A>T
c.2804A>T (p.Tyr935Phe)
c.2792A>T (p.Tyr931Phe)
c.2765A>T (p.Tyr922Phe)
n.3343A>T
n.3345A>T
c.3113A>T (p.Tyr1038Phe)
c.2882A>T (p.Tyr961Phe)
n.3128A>T
11g.77182070C>ACA381944127MYO7Ac.3024C>A (p.Tyr1008Ter)
c.1089C>A (p.Tyr363Ter)
c.865C>A
c.2991C>A (p.Tyr997Ter)
c.567C>A (p.Tyr189Ter)
n.567C>A
c.2805C>A (p.Tyr935Ter)
c.2793C>A (p.Tyr931Ter)
c.2766C>A (p.Tyr922Ter)
n.3344C>A
n.3346C>A
c.3114C>A (p.Tyr1038Ter)
c.2883C>A (p.Tyr961Ter)
n.3129C>A
11g.77182070C=CA1984113364MYO7Ac.3024C= (p.Tyr1008=)
c.1089C= (p.Tyr363=)
c.865C=
c.2991C= (p.Tyr997=)
c.567C= (p.Tyr189=)
n.567C=
c.2805C= (p.Tyr935=)
c.2793C= (p.Tyr931=)
c.2766C= (p.Tyr922=)
n.3344C=
n.3346C=
c.3114C= (p.Tyr1038=)
c.2883C= (p.Tyr961=)
n.3129C=
11g.77182070C>GCA381944129MYO7Ac.3024C>G (p.Tyr1008Ter)
c.1089C>G (p.Tyr363Ter)
c.865C>G
c.2991C>G (p.Tyr997Ter)
c.567C>G (p.Tyr189Ter)
n.567C>G
c.2805C>G (p.Tyr935Ter)
c.2793C>G (p.Tyr931Ter)
c.2766C>G (p.Tyr922Ter)
n.3344C>G
n.3346C>G
c.3114C>G (p.Tyr1038Ter)
c.2883C>G (p.Tyr961Ter)
n.3129C>G
11g.77182070C>TCA224841739MYO7Ac.3024C>T (p.Tyr1008=)
c.1089C>T (p.Tyr363=)
c.865C>T
c.2991C>T (p.Tyr997=)
c.567C>T (p.Tyr189=)
n.567C>T
c.2805C>T (p.Tyr935=)
c.2793C>T (p.Tyr931=)
c.2766C>T (p.Tyr922=)
n.3344C>T
n.3346C>T
c.3114C>T (p.Tyr1038=)
c.2883C>T (p.Tyr961=)
n.3129C>T
 ClinVar dbSNP gnomAD v4
11g.77182071T>ACA381944132MYO7Ac.3025T>A (p.Phe1009Ile)
c.1090T>A (p.Phe364Ile)
c.866T>A
c.2992T>A (p.Phe998Ile)
c.568T>A (p.Phe190Ile)
n.568T>A
c.2806T>A (p.Phe936Ile)
c.2794T>A (p.Phe932Ile)
c.2767T>A (p.Phe923Ile)
n.3345T>A
n.3347T>A
c.3115T>A (p.Phe1039Ile)
c.2884T>A (p.Phe962Ile)
n.3130T>A
11g.77182071T>CCA381944134MYO7Ac.3025T>C (p.Phe1009Leu)
c.1090T>C (p.Phe364Leu)
c.866T>C
c.2992T>C (p.Phe998Leu)
c.568T>C (p.Phe190Leu)
n.568T>C
c.2806T>C (p.Phe936Leu)
c.2794T>C (p.Phe932Leu)
c.2767T>C (p.Phe923Leu)
n.3345T>C
n.3347T>C
c.3115T>C (p.Phe1039Leu)
c.2884T>C (p.Phe962Leu)
n.3130T>C
11g.77182071T>GCA381944136MYO7Ac.3025T>G (p.Phe1009Val)
c.1090T>G (p.Phe364Val)
c.866T>G
c.2992T>G (p.Phe998Val)
c.568T>G (p.Phe190Val)
n.568T>G
c.2806T>G (p.Phe936Val)
c.2794T>G (p.Phe932Val)
c.2767T>G (p.Phe923Val)
n.3345T>G
n.3347T>G
c.3115T>G (p.Phe1039Val)
c.2884T>G (p.Phe962Val)
n.3130T>G
11g.77182071T=CA1984113368MYO7Ac.3025T= (p.Phe1009=)
c.1090T= (p.Phe364=)
c.866T=
c.2992T= (p.Phe998=)
c.568T= (p.Phe190=)
n.568T=
c.2806T= (p.Phe936=)
c.2794T= (p.Phe932=)
c.2767T= (p.Phe923=)
n.3345T=
n.3347T=
c.3115T= (p.Phe1039=)
c.2884T= (p.Phe962=)
n.3130T=
11g.77182072T>ACA381944141MYO7Ac.3026T>A (p.Phe1009Tyr)
c.1091T>A (p.Phe364Tyr)
c.867T>A
c.2993T>A (p.Phe998Tyr)
c.569T>A (p.Phe190Tyr)
n.569T>A
c.2807T>A (p.Phe936Tyr)
c.2795T>A (p.Phe932Tyr)
c.2768T>A (p.Phe923Tyr)
n.3346T>A
n.3348T>A
c.3116T>A (p.Phe1039Tyr)
c.2885T>A (p.Phe962Tyr)
n.3131T>A
11g.77182072T>CCA381944140MYO7Ac.3026T>C (p.Phe1009Ser)
c.1091T>C (p.Phe364Ser)
c.867T>C
c.2993T>C (p.Phe998Ser)
c.569T>C (p.Phe190Ser)
n.569T>C
c.2807T>C (p.Phe936Ser)
c.2795T>C (p.Phe932Ser)
c.2768T>C (p.Phe923Ser)
n.3346T>C
n.3348T>C
c.3116T>C (p.Phe1039Ser)
c.2885T>C (p.Phe962Ser)
n.3131T>C
11g.77182072T>GCA381944138MYO7Ac.3026T>G (p.Phe1009Cys)
c.1091T>G (p.Phe364Cys)
c.867T>G
c.2993T>G (p.Phe998Cys)
c.569T>G (p.Phe190Cys)
n.569T>G
c.2807T>G (p.Phe936Cys)
c.2795T>G (p.Phe932Cys)
c.2768T>G (p.Phe923Cys)
n.3346T>G
n.3348T>G
c.3116T>G (p.Phe1039Cys)
c.2885T>G (p.Phe962Cys)
n.3131T>G
11g.77182074_77182075insTACACCCGGTTGTCCCA224841741MYO7Ac.3028_3029insTACACCCGGTTGTCC (p.Phe1009_Gln1010insLeuHisProValVal)
c.1093_1094insTACACCCGGTTGTCC (p.Phe364_Gln365insLeuHisProValVal)
c.869_870insTACACCCGGTTGTCC
c.2995_2996insTACACCCGGTTGTCC (p.Phe998_Gln999insLeuHisProValVal)
c.571_572insTACACCCGGTTGTCC (p.Phe190_Gln191insLeuHisProValVal)
n.571_572insTACACCCGGTTGTCC
c.2809_2810insTACACCCGGTTGTCC (p.Phe936_Gln937insLeuHisProValVal)
c.2797_2798insTACACCCGGTTGTCC (p.Phe932_Gln933insLeuHisProValVal)
c.2770_2771insTACACCCGGTTGTCC (p.Phe923_Gln924insLeuHisProValVal)
n.3348_3349insTACACCCGGTTGTCC
n.3350_3351insTACACCCGGTTGTCC
c.3118_3119insTACACCCGGTTGTCC (p.Phe1039_Gln1040insLeuHisProValVal)
c.2887_2888insTACACCCGGTTGTCC (p.Phe962_Gln963insLeuHisProValVal)
n.3133_3134insTACACCCGGTTGTCC
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77182073C>ACA381944142MYO7Ac.3027C>A (p.Phe1009Leu)
c.1092C>A (p.Phe364Leu)
c.868C>A
c.2994C>A (p.Phe998Leu)
c.570C>A (p.Phe190Leu)
n.570C>A
c.2808C>A (p.Phe936Leu)
c.2796C>A (p.Phe932Leu)
c.2769C>A (p.Phe923Leu)
n.3347C>A
n.3349C>A
c.3117C>A (p.Phe1039Leu)
c.2886C>A (p.Phe962Leu)
n.3132C>A
11g.77182073C>GCA381944144MYO7Ac.3027C>G (p.Phe1009Leu)
c.1092C>G (p.Phe364Leu)
c.868C>G
c.2994C>G (p.Phe998Leu)
c.570C>G (p.Phe190Leu)
n.570C>G
c.2808C>G (p.Phe936Leu)
c.2796C>G (p.Phe932Leu)
c.2769C>G (p.Phe923Leu)
n.3347C>G
n.3349C>G
c.3117C>G (p.Phe1039Leu)
c.2886C>G (p.Phe962Leu)
n.3132C>G
11g.77182074C>ACA381944146MYO7Ac.3028C>A (p.Gln1010Lys)
c.1093C>A (p.Gln365Lys)
c.869C>A
c.2995C>A (p.Gln999Lys)
c.571C>A (p.Gln191Lys)
n.571C>A
c.2809C>A (p.Gln937Lys)
c.2797C>A (p.Gln933Lys)
c.2770C>A (p.Gln924Lys)
n.3348C>A
n.3350C>A
c.3118C>A (p.Gln1040Lys)
c.2887C>A (p.Gln963Lys)
n.3133C>A
11g.77182074C>GCA381944148MYO7Ac.3028C>G (p.Gln1010Glu)
c.1093C>G (p.Gln365Glu)
c.869C>G
c.2995C>G (p.Gln999Glu)
c.571C>G (p.Gln191Glu)
n.571C>G
c.2809C>G (p.Gln937Glu)
c.2797C>G (p.Gln933Glu)
c.2770C>G (p.Gln924Glu)
n.3348C>G
n.3350C>G
c.3118C>G (p.Gln1040Glu)
c.2887C>G (p.Gln963Glu)
n.3133C>G
11g.77182074C>TCA381944150MYO7Ac.3028C>T (p.Gln1010Ter)
c.1093C>T (p.Gln365Ter)
c.869C>T
c.2995C>T (p.Gln999Ter)
c.571C>T (p.Gln191Ter)
n.571C>T
c.2809C>T (p.Gln937Ter)
c.2797C>T (p.Gln933Ter)
c.2770C>T (p.Gln924Ter)
n.3348C>T
n.3350C>T
c.3118C>T (p.Gln1040Ter)
c.2887C>T (p.Gln963Ter)
n.3133C>T
11g.77182075A=CA1984113374MYO7Ac.3029A= (p.Gln1010=)
c.1094A= (p.Gln365=)
c.870A=
c.2996A= (p.Gln999=)
c.572A= (p.Gln191=)
n.572A=
c.2810A= (p.Gln937=)
c.2798A= (p.Gln933=)
c.2771A= (p.Gln924=)
n.3349A=
n.3351A=
c.3119A= (p.Gln1040=)
c.2888A= (p.Gln963=)
n.3134A=
11g.77182075A>CCA381944152MYO7Ac.3029A>C (p.Gln1010Pro)
c.1094A>C (p.Gln365Pro)
c.870A>C
c.2996A>C (p.Gln999Pro)
c.572A>C (p.Gln191Pro)
n.572A>C
c.2810A>C (p.Gln937Pro)
c.2798A>C (p.Gln933Pro)
c.2771A>C (p.Gln924Pro)
n.3349A>C
n.3351A>C
c.3119A>C (p.Gln1040Pro)
c.2888A>C (p.Gln963Pro)
n.3134A>C
11g.77182075A>GCA381944153MYO7Ac.3029A>G (p.Gln1010Arg)
c.1094A>G (p.Gln365Arg)
c.870A>G
c.2996A>G (p.Gln999Arg)
c.572A>G (p.Gln191Arg)
n.572A>G
c.2810A>G (p.Gln937Arg)
c.2798A>G (p.Gln933Arg)
c.2771A>G (p.Gln924Arg)
n.3349A>G
n.3351A>G
c.3119A>G (p.Gln1040Arg)
c.2888A>G (p.Gln963Arg)
n.3134A>G
 dbSNP gnomAD v3 gnomAD v4
11g.77182075A>TCA381944155MYO7Ac.3029A>T (p.Gln1010Leu)
c.1094A>T (p.Gln365Leu)
c.870A>T
c.2996A>T (p.Gln999Leu)
c.572A>T (p.Gln191Leu)
n.572A>T
c.2810A>T (p.Gln937Leu)
c.2798A>T (p.Gln933Leu)
c.2771A>T (p.Gln924Leu)
n.3349A>T
n.3351A>T
c.3119A>T (p.Gln1040Leu)
c.2888A>T (p.Gln963Leu)
n.3134A>T
11g.77182076G>ACA645585226MYO7Ac.3030G>A (p.Gln1010=)
c.1095G>A (p.Gln365=)
c.871G>A
c.2997G>A (p.Gln999=)
c.573G>A (p.Gln191=)
n.573G>A
c.2811G>A (p.Gln937=)
c.2799G>A (p.Gln933=)
c.2772G>A (p.Gln924=)
n.3350G>A
n.3352G>A
c.3120G>A (p.Gln1040=)
c.2889G>A (p.Gln963=)
n.3135G>A
 dbSNP gnomAD v4 COSMIC
11g.77182076G>CCA381944157MYO7Ac.3030G>C (p.Gln1010His)
c.1095G>C (p.Gln365His)
c.871G>C
c.2997G>C (p.Gln999His)
c.573G>C (p.Gln191His)
n.573G>C
c.2811G>C (p.Gln937His)
c.2799G>C (p.Gln933His)
c.2772G>C (p.Gln924His)
n.3350G>C
n.3352G>C
c.3120G>C (p.Gln1040His)
c.2889G>C (p.Gln963His)
n.3135G>C
11g.77182076G=CA1984113377MYO7Ac.3030G= (p.Gln1010=)
c.1095G= (p.Gln365=)
c.871G=
c.2997G= (p.Gln999=)
c.573G= (p.Gln191=)
n.573G=
c.2811G= (p.Gln937=)
c.2799G= (p.Gln933=)
c.2772G= (p.Gln924=)
n.3350G=
n.3352G=
c.3120G= (p.Gln1040=)
c.2889G= (p.Gln963=)
n.3135G=
11g.77182076G>TCA381944159MYO7Ac.3030G>T (p.Gln1010His)
c.1095G>T (p.Gln365His)
c.871G>T
c.2997G>T (p.Gln999His)
c.573G>T (p.Gln191His)
n.573G>T
c.2811G>T (p.Gln937His)
c.2799G>T (p.Gln933His)
c.2772G>T (p.Gln924His)
n.3350G>T
n.3352G>T
c.3120G>T (p.Gln1040His)
c.2889G>T (p.Gln963His)
n.3135G>T
11g.77182079dupCA2839046182MYO7Ac.3033dup (p.Thr1012AspfsTer19)
c.1098dup (p.Thr367AspfsTer19)
c.874dup
c.3000dup (p.Thr1001AspfsTer19)
c.576dup (p.Thr193AspfsTer19)
n.576dup
c.2814dup (p.Thr939AspfsTer19)
c.2802dup (p.Thr935AspfsTer19)
c.2775dup (p.Thr926AspfsTer19)
n.3353dup
n.3355dup
c.3123dup (p.Thr1042AspfsTer19)
c.2892dup (p.Thr965AspfsTer19)
n.3138dup
11g.77182077G>ACA381944161MYO7Ac.3031G>A (p.Gly1011Arg)
c.1096G>A (p.Gly366Arg)
c.872G>A
c.2998G>A (p.Gly1000Arg)
c.574G>A (p.Gly192Arg)
n.574G>A
c.2812G>A (p.Gly938Arg)
c.2800G>A (p.Gly934Arg)
c.2773G>A (p.Gly925Arg)
n.3351G>A
n.3353G>A
c.3121G>A (p.Gly1041Arg)
c.2890G>A (p.Gly964Arg)
n.3136G>A
 COSMIC
11g.77182077G>CCA381944164MYO7Ac.3031G>C (p.Gly1011Arg)
c.1096G>C (p.Gly366Arg)
c.872G>C
c.2998G>C (p.Gly1000Arg)
c.574G>C (p.Gly192Arg)
n.574G>C
c.2812G>C (p.Gly938Arg)
c.2800G>C (p.Gly934Arg)
c.2773G>C (p.Gly925Arg)
n.3351G>C
n.3353G>C
c.3121G>C (p.Gly1041Arg)
c.2890G>C (p.Gly964Arg)
n.3136G>C
 dbSNP gnomAD v3 gnomAD v4
11g.77182077G=CA1984113380MYO7Ac.3031G= (p.Gly1011=)
c.1096G= (p.Gly366=)
c.872G=
c.2998G= (p.Gly1000=)
c.574G= (p.Gly192=)
n.574G=
c.2812G= (p.Gly938=)
c.2800G= (p.Gly934=)
c.2773G= (p.Gly925=)
n.3351G=
n.3353G=
c.3121G= (p.Gly1041=)
c.2890G= (p.Gly964=)
n.3136G=
11g.77182077G>TCA381944163MYO7Ac.3031G>T (p.Gly1011Trp)
c.1096G>T (p.Gly366Trp)
c.872G>T
c.2998G>T (p.Gly1000Trp)
c.574G>T (p.Gly192Trp)
n.574G>T
c.2812G>T (p.Gly938Trp)
c.2800G>T (p.Gly934Trp)
c.2773G>T (p.Gly925Trp)
n.3351G>T
n.3353G>T
c.3121G>T (p.Gly1041Trp)
c.2890G>T (p.Gly964Trp)
n.3136G>T
 COSMIC
11g.77182078G>ACA381944165MYO7Ac.3032G>A (p.Gly1011Glu)
c.1097G>A (p.Gly366Glu)
c.873G>A
c.2999G>A (p.Gly1000Glu)
c.575G>A (p.Gly192Glu)
n.575G>A
c.2813G>A (p.Gly938Glu)
c.2801G>A (p.Gly934Glu)
c.2774G>A (p.Gly925Glu)
n.3352G>A
n.3354G>A
c.3122G>A (p.Gly1041Glu)
c.2891G>A (p.Gly964Glu)
n.3137G>A
11g.77182078G>CCA381944166MYO7Ac.3032G>C (p.Gly1011Ala)
c.1097G>C (p.Gly366Ala)
c.873G>C
c.2999G>C (p.Gly1000Ala)
c.575G>C (p.Gly192Ala)
n.575G>C
c.2813G>C (p.Gly938Ala)
c.2801G>C (p.Gly934Ala)
c.2774G>C (p.Gly925Ala)
n.3352G>C
n.3354G>C
c.3122G>C (p.Gly1041Ala)
c.2891G>C (p.Gly964Ala)
n.3137G>C
11g.77182078G>TCA381944167MYO7Ac.3032G>T (p.Gly1011Val)
c.1097G>T (p.Gly366Val)
c.873G>T
c.2999G>T (p.Gly1000Val)
c.575G>T (p.Gly192Val)
n.575G>T
c.2813G>T (p.Gly938Val)
c.2801G>T (p.Gly934Val)
c.2774G>T (p.Gly925Val)
n.3352G>T
n.3354G>T
c.3122G>T (p.Gly1041Val)
c.2891G>T (p.Gly964Val)
n.3137G>T
11g.77182079G>ACA2615256347MYO7Ac.3033G>A (p.Gly1011=)
c.1098G>A (p.Gly366=)
c.874G>A
c.3000G>A (p.Gly1000=)
c.576G>A (p.Gly192=)
n.576G>A
c.2814G>A (p.Gly938=)
c.2802G>A (p.Gly934=)
c.2775G>A (p.Gly925=)
n.3353G>A
n.3355G>A
c.3123G>A (p.Gly1041=)
c.2892G>A (p.Gly964=)
n.3138G>A
 gnomAD v4
11g.77182079G>CCA2571000453MYO7Ac.3033G>C (p.Gly1011=)
c.1098G>C (p.Gly366=)
c.874G>C
c.3000G>C (p.Gly1000=)
c.576G>C (p.Gly192=)
n.576G>C
c.2814G>C (p.Gly938=)
c.2802G>C (p.Gly934=)
c.2775G>C (p.Gly925=)
n.3353G>C
n.3355G>C
c.3123G>C (p.Gly1041=)
c.2892G>C (p.Gly964=)
n.3138G>C
11g.77182079G=CA1984113386MYO7Ac.3033G= (p.Gly1011=)
c.1098G= (p.Gly366=)
c.874G=
c.3000G= (p.Gly1000=)
c.576G= (p.Gly192=)
n.576G=
c.2814G= (p.Gly938=)
c.2802G= (p.Gly934=)
c.2775G= (p.Gly925=)
n.3353G=
n.3355G=
c.3123G= (p.Gly1041=)
c.2892G= (p.Gly964=)
n.3138G=
11g.77182079G>TCA224841745MYO7Ac.3033G>T (p.Gly1011=)
c.1098G>T (p.Gly366=)
c.874G>T
c.3000G>T (p.Gly1000=)
c.576G>T (p.Gly192=)
n.576G>T
c.2814G>T (p.Gly938=)
c.2802G>T (p.Gly934=)
c.2775G>T (p.Gly925=)
n.3353G>T
n.3355G>T
c.3123G>T (p.Gly1041=)
c.2892G>T (p.Gly964=)
n.3138G>T
 dbSNP gnomAD v4
11g.77182080A>CCA381944168MYO7Ac.3034A>C (p.Thr1012Pro)
c.1099A>C (p.Thr367Pro)
c.875A>C
c.3001A>C (p.Thr1001Pro)
c.577A>C (p.Thr193Pro)
n.577A>C
c.2815A>C (p.Thr939Pro)
c.2803A>C (p.Thr935Pro)
c.2776A>C (p.Thr926Pro)
n.3354A>C
n.3356A>C
c.3124A>C (p.Thr1042Pro)
c.2893A>C (p.Thr965Pro)
n.3139A>C
11g.77182080A>GCA381944169MYO7Ac.3034A>G (p.Thr1012Ala)
c.1099A>G (p.Thr367Ala)
c.875A>G
c.3001A>G (p.Thr1001Ala)
c.577A>G (p.Thr193Ala)
n.577A>G
c.2815A>G (p.Thr939Ala)
c.2803A>G (p.Thr935Ala)
c.2776A>G (p.Thr926Ala)
n.3354A>G
n.3356A>G
c.3124A>G (p.Thr1042Ala)
c.2893A>G (p.Thr965Ala)
n.3139A>G
11g.77182080A>TCA381944170MYO7Ac.3034A>T (p.Thr1012Ser)
c.1099A>T (p.Thr367Ser)
c.875A>T
c.3001A>T (p.Thr1001Ser)
c.577A>T (p.Thr193Ser)
n.577A>T
c.2815A>T (p.Thr939Ser)
c.2803A>T (p.Thr935Ser)
c.2776A>T (p.Thr926Ser)
n.3354A>T
n.3356A>T
c.3124A>T (p.Thr1042Ser)
c.2893A>T (p.Thr965Ser)
n.3139A>T
11g.77182081C>ACA381944171MYO7Ac.3035C>A (p.Thr1012Lys)
c.1100C>A (p.Thr367Lys)
c.876C>A
c.3002C>A (p.Thr1001Lys)
c.578C>A (p.Thr193Lys)
n.578C>A
c.2816C>A (p.Thr939Lys)
c.2804C>A (p.Thr935Lys)
c.2777C>A (p.Thr926Lys)
n.3355C>A
n.3357C>A
c.3125C>A (p.Thr1042Lys)
c.2894C>A (p.Thr965Lys)
n.3140C>A
11g.77182081C=CA1984113389MYO7Ac.3035C= (p.Thr1012=)
c.1100C= (p.Thr367=)
c.876C=
c.3002C= (p.Thr1001=)
c.578C= (p.Thr193=)
n.578C=
c.2816C= (p.Thr939=)
c.2804C= (p.Thr935=)
c.2777C= (p.Thr926=)
n.3355C=
n.3357C=
c.3125C= (p.Thr1042=)
c.2894C= (p.Thr965=)
n.3140C=
11g.77182081C>GCA381944172MYO7Ac.3035C>G (p.Thr1012Arg)
c.1100C>G (p.Thr367Arg)
c.876C>G
c.3002C>G (p.Thr1001Arg)
c.578C>G (p.Thr193Arg)
n.578C>G
c.2816C>G (p.Thr939Arg)
c.2804C>G (p.Thr935Arg)
c.2777C>G (p.Thr926Arg)
n.3355C>G
n.3357C>G
c.3125C>G (p.Thr1042Arg)
c.2894C>G (p.Thr965Arg)
n.3140C>G
11g.77182081C>TCA381944173MYO7Ac.3035C>T (p.Thr1012Ile)
c.1100C>T (p.Thr367Ile)
c.876C>T
c.3002C>T (p.Thr1001Ile)
c.578C>T (p.Thr193Ile)
n.578C>T
c.2816C>T (p.Thr939Ile)
c.2804C>T (p.Thr935Ile)
c.2777C>T (p.Thr926Ile)
n.3355C>T
n.3357C>T
c.3125C>T (p.Thr1042Ile)
c.2894C>T (p.Thr965Ile)
n.3140C>T
 dbSNP gnomAD v4
11g.77182082A=CA1984113393MYO7Ac.3036A= (p.Thr1012=)
c.1101A= (p.Thr367=)
c.877A=
c.3003A= (p.Thr1001=)
c.579A= (p.Thr193=)
n.579A=
c.2817A= (p.Thr939=)
c.2805A= (p.Thr935=)
c.2778A= (p.Thr926=)
n.3356A=
n.3358A=
c.3126A= (p.Thr1042=)
c.2895A= (p.Thr965=)
n.3141A=
11g.77182082A>GCA132276MYO7Ac.3036A>G (p.Thr1012=)
c.1101A>G (p.Thr367=)
c.877A>G
c.3003A>G (p.Thr1001=)
c.579A>G (p.Thr193=)
n.579A>G
c.2817A>G (p.Thr939=)
c.2805A>G (p.Thr935=)
c.2778A>G (p.Thr926=)
n.3356A>G
n.3358A>G
c.3126A>G (p.Thr1042=)
c.2895A>G (p.Thr965=)
n.3141A>G
 ClinVar dbSNP gnomAD v4
11g.77182083A=CA1984113399MYO7Ac.3037A= (p.Thr1013=)
c.1102A= (p.Thr368=)
c.878A=
c.3004A= (p.Thr1002=)
c.580A= (p.Thr194=)
n.580A=
c.2818A= (p.Thr940=)
c.2806A= (p.Thr936=)
c.2779A= (p.Thr927=)
n.3357A=
n.3359A=
c.3127A= (p.Thr1043=)
c.2896A= (p.Thr966=)
n.3142A=
11g.77182083A>CCA381944176MYO7Ac.3037A>C (p.Thr1013Pro)
c.1102A>C (p.Thr368Pro)
c.878A>C
c.3004A>C (p.Thr1002Pro)
c.580A>C (p.Thr194Pro)
n.580A>C
c.2818A>C (p.Thr940Pro)
c.2806A>C (p.Thr936Pro)
c.2779A>C (p.Thr927Pro)
n.3357A>C
n.3359A>C
c.3127A>C (p.Thr1043Pro)
c.2896A>C (p.Thr966Pro)
n.3142A>C
11g.77182083A>GCA381944175MYO7Ac.3037A>G (p.Thr1013Ala)
c.1102A>G (p.Thr368Ala)
c.878A>G
c.3004A>G (p.Thr1002Ala)
c.580A>G (p.Thr194Ala)
n.580A>G
c.2818A>G (p.Thr940Ala)
c.2806A>G (p.Thr936Ala)
c.2779A>G (p.Thr927Ala)
n.3357A>G
n.3359A>G
c.3127A>G (p.Thr1043Ala)
c.2896A>G (p.Thr966Ala)
n.3142A>G
 dbSNP
11g.77182083A>TCA381944174MYO7Ac.3037A>T (p.Thr1013Ser)
c.1102A>T (p.Thr368Ser)
c.878A>T
c.3004A>T (p.Thr1002Ser)
c.580A>T (p.Thr194Ser)
n.580A>T
c.2818A>T (p.Thr940Ser)
c.2806A>T (p.Thr936Ser)
c.2779A>T (p.Thr927Ser)
n.3357A>T
n.3359A>T
c.3127A>T (p.Thr1043Ser)
c.2896A>T (p.Thr966Ser)
n.3142A>T
11g.77182084C>ACA381944177MYO7Ac.3038C>A (p.Thr1013Asn)
c.1103C>A (p.Thr368Asn)
c.879C>A
c.3005C>A (p.Thr1002Asn)
c.581C>A (p.Thr194Asn)
n.581C>A
c.2819C>A (p.Thr940Asn)
c.2807C>A (p.Thr936Asn)
c.2780C>A (p.Thr927Asn)
n.3358C>A
n.3360C>A
c.3128C>A (p.Thr1043Asn)
c.2897C>A (p.Thr966Asn)
n.3143C>A
11g.77182084C=CA1984113405MYO7Ac.3038C= (p.Thr1013=)
c.1103C= (p.Thr368=)
c.879C=
c.3005C= (p.Thr1002=)
c.581C= (p.Thr194=)
n.581C=
c.2819C= (p.Thr940=)
c.2807C= (p.Thr936=)
c.2780C= (p.Thr927=)
n.3358C=
n.3360C=
c.3128C= (p.Thr1043=)
c.2897C= (p.Thr966=)
n.3143C=
11g.77182084C>GCA381944178MYO7Ac.3038C>G (p.Thr1013Ser)
c.1103C>G (p.Thr368Ser)
c.879C>G
c.3005C>G (p.Thr1002Ser)
c.581C>G (p.Thr194Ser)
n.581C>G
c.2819C>G (p.Thr940Ser)
c.2807C>G (p.Thr936Ser)
c.2780C>G (p.Thr927Ser)
n.3358C>G
n.3360C>G
c.3128C>G (p.Thr1043Ser)
c.2897C>G (p.Thr966Ser)
n.3143C>G
11g.77182084C>TCA224841749MYO7Ac.3038C>T (p.Thr1013Ile)
c.1103C>T (p.Thr368Ile)
c.879C>T
c.3005C>T (p.Thr1002Ile)
c.581C>T (p.Thr194Ile)
n.581C>T
c.2819C>T (p.Thr940Ile)
c.2807C>T (p.Thr936Ile)
c.2780C>T (p.Thr927Ile)
n.3358C>T
n.3360C>T
c.3128C>T (p.Thr1043Ile)
c.2897C>T (p.Thr966Ile)
n.3143C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77182085C>ACA2573147752MYO7Ac.3039C>A (p.Thr1013=)
c.1104C>A (p.Thr368=)
c.880C>A
c.3006C>A (p.Thr1002=)
c.582C>A (p.Thr194=)
n.582C>A
c.2820C>A (p.Thr940=)
c.2808C>A (p.Thr936=)
c.2781C>A (p.Thr927=)
n.3359C>A
n.3361C>A
c.3129C>A (p.Thr1043=)
c.2898C>A (p.Thr966=)
n.3144C>A
 ClinVar dbSNP gnomAD v4
11g.77182085C=CA1984113413MYO7Ac.3039C= (p.Thr1013=)
c.1104C= (p.Thr368=)
c.880C=
c.3006C= (p.Thr1002=)
c.582C= (p.Thr194=)
n.582C=
c.2820C= (p.Thr940=)
c.2808C= (p.Thr936=)
c.2781C= (p.Thr927=)
n.3359C=
n.3361C=
c.3129C= (p.Thr1043=)
c.2898C= (p.Thr966=)
n.3144C=
11g.77182085C>TCA224841752MYO7Ac.3039C>T (p.Thr1013=)
c.1104C>T (p.Thr368=)
c.880C>T
c.3006C>T (p.Thr1002=)
c.582C>T (p.Thr194=)
n.582C>T
c.2820C>T (p.Thr940=)
c.2808C>T (p.Thr936=)
c.2781C>T (p.Thr927=)
n.3359C>T
n.3361C>T
c.3129C>T (p.Thr1043=)
c.2898C>T (p.Thr966=)
n.3144C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77182085_77182086insTCA939776727MYO7Ac.3039_3040insT (p.Thr1014TyrfsTer17)
c.1104_1105insT (p.Thr369TyrfsTer17)
c.880_881insT
c.3006_3007insT (p.Thr1003TyrfsTer17)
c.582_583insT (p.Thr195TyrfsTer17)
n.582_583insT
c.2820_2821insT (p.Thr941TyrfsTer17)
c.2808_2809insT (p.Thr937TyrfsTer17)
c.2781_2782insT (p.Thr928TyrfsTer17)
n.3359_3360insT
n.3361_3362insT
c.3129_3130insT (p.Thr1044TyrfsTer17)
c.2898_2899insT (p.Thr967TyrfsTer17)
n.3144_3145insT
 dbSNP gnomAD v3 gnomAD v4
11g.77182085_77182086insTACTTCCAGGGGCA1984113416MYO7Ac.3039_3040insTACTTCCAGGGG (p.Thr1013_Thr1014insTyrPheGlnGly)
c.1104_1105insTACTTCCAGGGG (p.Thr368_Thr369insTyrPheGlnGly)
c.880_881insTACTTCCAGGGG
c.3006_3007insTACTTCCAGGGG (p.Thr1002_Thr1003insTyrPheGlnGly)
c.582_583insTACTTCCAGGGG (p.Thr194_Thr195insTyrPheGlnGly)
n.582_583insTACTTCCAGGGG
c.2820_2821insTACTTCCAGGGG (p.Thr940_Thr941insTyrPheGlnGly)
c.2808_2809insTACTTCCAGGGG (p.Thr936_Thr937insTyrPheGlnGly)
c.2781_2782insTACTTCCAGGGG (p.Thr927_Thr928insTyrPheGlnGly)
n.3359_3360insTACTTCCAGGGG
n.3361_3362insTACTTCCAGGGG
c.3129_3130insTACTTCCAGGGG (p.Thr1043_Thr1044insTyrPheGlnGly)
c.2898_2899insTACTTCCAGGGG (p.Thr966_Thr967insTyrPheGlnGly)
n.3144_3145insTACTTCCAGGGG
 dbSNP
11g.77182086delCA2580084974MYO7Ac.3040del (p.Thr1014ArgfsTer?)
c.1105del (p.Thr369ArgfsTer?)
c.881del
c.3007del (p.Thr1003ArgfsTer?)
c.583del (p.Thr195ArgfsTer?)
n.583del
c.2821del (p.Thr941ArgfsTer?)
c.2809del (p.Thr937ArgfsTer?)
c.2782del (p.Thr928ArgfsTer?)
n.3360del
n.3362del
c.3130del (p.Thr1044ArgfsTer?)
c.2899del (p.Thr967ArgfsTer?)
n.3145del
 ClinVar
11g.77182086A>CCA381944179MYO7Ac.3040A>C (p.Thr1014Pro)
c.1105A>C (p.Thr369Pro)
c.881A>C
c.3007A>C (p.Thr1003Pro)
c.583A>C (p.Thr195Pro)
n.583A>C
c.2821A>C (p.Thr941Pro)
c.2809A>C (p.Thr937Pro)
c.2782A>C (p.Thr928Pro)
n.3360A>C
n.3362A>C
c.3130A>C (p.Thr1044Pro)
c.2899A>C (p.Thr967Pro)
n.3145A>C
11g.77182086A>GCA381944180MYO7Ac.3040A>G (p.Thr1014Ala)
c.1105A>G (p.Thr369Ala)
c.881A>G
c.3007A>G (p.Thr1003Ala)
c.583A>G (p.Thr195Ala)
n.583A>G
c.2821A>G (p.Thr941Ala)
c.2809A>G (p.Thr937Ala)
c.2782A>G (p.Thr928Ala)
n.3360A>G
n.3362A>G
c.3130A>G (p.Thr1044Ala)
c.2899A>G (p.Thr967Ala)
n.3145A>G
11g.77182086A>TCA381944181MYO7Ac.3040A>T (p.Thr1014Ser)
c.1105A>T (p.Thr369Ser)
c.881A>T
c.3007A>T (p.Thr1003Ser)
c.583A>T (p.Thr195Ser)
n.583A>T
c.2821A>T (p.Thr941Ser)
c.2809A>T (p.Thr937Ser)
c.2782A>T (p.Thr928Ser)
n.3360A>T
n.3362A>T
c.3130A>T (p.Thr1044Ser)
c.2899A>T (p.Thr967Ser)
n.3145A>T
11g.77182086_77182089delinsTACTTCCAGGGGACACA2695214992MYO7Ac.3040_3043delinsTACTTCCAGGGGACA (p.Thr1014TyrfsTer?)
c.1105_1108delinsTACTTCCAGGGGACA (p.Thr369TyrfsTer?)
c.881_884delinsTACTTCCAGGGGACA
c.3007_3010delinsTACTTCCAGGGGACA (p.Thr1003TyrfsTer?)
c.583_586delinsTACTTCCAGGGGACA (p.Thr195TyrfsTer?)
n.583_586delinsTACTTCCAGGGGACA
c.2821_2824delinsTACTTCCAGGGGACA (p.Thr941TyrfsTer?)
c.2809_2812delinsTACTTCCAGGGGACA (p.Thr937TyrfsTer?)
c.2782_2785delinsTACTTCCAGGGGACA (p.Thr928TyrfsTer?)
n.3360_3363delinsTACTTCCAGGGGACA
n.3362_3365delinsTACTTCCAGGGGACA
c.3130_3133delinsTACTTCCAGGGGACA (p.Thr1044TyrfsTer?)
c.2899_2902delinsTACTTCCAGGGGACA (p.Thr967TyrfsTer?)
n.3145_3148delinsTACTTCCAGGGGACA
11g.77182087C>ACA381944182MYO7Ac.3041C>A (p.Thr1014Lys)
c.1106C>A (p.Thr369Lys)
c.882C>A
c.3008C>A (p.Thr1003Lys)
c.584C>A (p.Thr195Lys)
n.584C>A
c.2822C>A (p.Thr941Lys)
c.2810C>A (p.Thr937Lys)
c.2783C>A (p.Thr928Lys)
n.3361C>A
n.3363C>A
c.3131C>A (p.Thr1044Lys)
c.2900C>A (p.Thr967Lys)
n.3146C>A
11g.77182087C=CA1984113420MYO7Ac.3041C= (p.Thr1014=)
c.1106C= (p.Thr369=)
c.882C=
c.3008C= (p.Thr1003=)
c.584C= (p.Thr195=)
n.584C=
c.2822C= (p.Thr941=)
c.2810C= (p.Thr937=)
c.2783C= (p.Thr928=)
n.3361C=
n.3363C=
c.3131C= (p.Thr1044=)
c.2900C= (p.Thr967=)
n.3146C=
11g.77182087C>GCA381944183MYO7Ac.3041C>G (p.Thr1014Arg)
c.1106C>G (p.Thr369Arg)
c.882C>G
c.3008C>G (p.Thr1003Arg)
c.584C>G (p.Thr195Arg)
n.584C>G
c.2822C>G (p.Thr941Arg)
c.2810C>G (p.Thr937Arg)
c.2783C>G (p.Thr928Arg)
n.3361C>G
n.3363C>G
c.3131C>G (p.Thr1044Arg)
c.2900C>G (p.Thr967Arg)
n.3146C>G
11g.77182087C>TCA381944184MYO7Ac.3041C>T (p.Thr1014Met)
c.1106C>T (p.Thr369Met)
c.882C>T
c.3008C>T (p.Thr1003Met)
c.584C>T (p.Thr195Met)
n.584C>T
c.2822C>T (p.Thr941Met)
c.2810C>T (p.Thr937Met)
c.2783C>T (p.Thr928Met)
n.3361C>T
n.3363C>T
c.3131C>T (p.Thr1044Met)
c.2900C>T (p.Thr967Met)
n.3146C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77182087_77182088delinsCGCA1984113422MYO7Ac.3041_3042delinsCG (p.Thr1014=)
c.1106_1107delinsCG (p.Thr369=)
c.882_883delinsCG
c.3008_3009delinsCG (p.Thr1003=)
c.584_585delinsCG (p.Thr195=)
n.584_585delinsCG
c.2822_2823delinsCG (p.Thr941=)
c.2810_2811delinsCG (p.Thr937=)
c.2783_2784delinsCG (p.Thr928=)
n.3361_3362delinsCG
n.3363_3364delinsCG
c.3131_3132delinsCG (p.Thr1044=)
c.2900_2901delinsCG (p.Thr967=)
n.3146_3147delinsCG
11g.77182087_77182088insTTCCACA939776738MYO7Ac.3041_3042insTTCCA (p.His1015SerfsTer?)
c.1106_1107insTTCCA (p.His370SerfsTer?)
c.882_883insTTCCA
c.3008_3009insTTCCA (p.His1004SerfsTer?)
c.584_585insTTCCA (p.His196SerfsTer?)
n.584_585insTTCCA
c.2822_2823insTTCCA (p.His942SerfsTer?)
c.2810_2811insTTCCA (p.His938SerfsTer?)
c.2783_2784insTTCCA (p.His929SerfsTer?)
n.3361_3362insTTCCA
n.3363_3364insTTCCA
c.3131_3132insTTCCA (p.His1045SerfsTer?)
c.2900_2901insTTCCA (p.His968SerfsTer?)
n.3146_3147insTTCCA
 dbSNP gnomAD v3 gnomAD v4
11g.77182088delCA1984113425MYO7Ac.3042del (p.His1015ThrfsTer?)
c.1107del (p.His370ThrfsTer?)
c.883del
c.3009del (p.His1004ThrfsTer?)
c.585del (p.His196ThrfsTer?)
n.585del
c.2823del (p.His942ThrfsTer?)
c.2811del (p.His938ThrfsTer?)
c.2784del (p.His929ThrfsTer?)
n.3362del
n.3364del
c.3132del (p.His1045ThrfsTer?)
c.2901del (p.His968ThrfsTer?)
n.3147del
 dbSNP
11g.77182088G>ACA224841755MYO7Ac.3042G>A (p.Thr1014=)
c.1107G>A (p.Thr369=)
c.883G>A
c.3009G>A (p.Thr1003=)
c.585G>A (p.Thr195=)
n.585G>A
c.2823G>A (p.Thr941=)
c.2811G>A (p.Thr937=)
c.2784G>A (p.Thr928=)
n.3362G>A
n.3364G>A
c.3132G>A (p.Thr1044=)
c.2901G>A (p.Thr967=)
n.3147G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77182088G>CCA2499221320MYO7Ac.3042G>C (p.Thr1014=)
c.1107G>C (p.Thr369=)
c.883G>C
c.3009G>C (p.Thr1003=)
c.585G>C (p.Thr195=)
n.585G>C
c.2823G>C (p.Thr941=)
c.2811G>C (p.Thr937=)
c.2784G>C (p.Thr928=)
n.3362G>C
n.3364G>C
c.3132G>C (p.Thr1044=)
c.2901G>C (p.Thr967=)
n.3147G>C
 ClinVar dbSNP
11g.77182088G=CA1984113427MYO7Ac.3042G= (p.Thr1014=)
c.1107G= (p.Thr369=)
c.883G=
c.3009G= (p.Thr1003=)
c.585G= (p.Thr195=)
n.585G=
c.2823G= (p.Thr941=)
c.2811G= (p.Thr937=)
c.2784G= (p.Thr928=)
n.3362G=
n.3364G=
c.3132G= (p.Thr1044=)
c.2901G= (p.Thr967=)
n.3147G=
11g.77182088G>TCA132278MYO7Ac.3042G>T (p.Thr1014=)
c.1107G>T (p.Thr369=)
c.883G>T
c.3009G>T (p.Thr1003=)
c.585G>T (p.Thr195=)
n.585G>T
c.2823G>T (p.Thr941=)
c.2811G>T (p.Thr937=)
c.2784G>T (p.Thr928=)
n.3362G>T
n.3364G>T
c.3132G>T (p.Thr1044=)
c.2901G>T (p.Thr967=)
n.3147G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77182088_77182089insGGGACA939776739MYO7Ac.3042_3043insGGGA (p.His1015GlyfsTer17)
c.1107_1108insGGGA (p.His370GlyfsTer17)
c.883_884insGGGA
c.3009_3010insGGGA (p.His1004GlyfsTer17)
c.585_586insGGGA (p.His196GlyfsTer17)
n.585_586insGGGA
c.2823_2824insGGGA (p.His942GlyfsTer17)
c.2811_2812insGGGA (p.His938GlyfsTer17)
c.2784_2785insGGGA (p.His929GlyfsTer17)
n.3362_3363insGGGA
n.3364_3365insGGGA
c.3132_3133insGGGA (p.His1045GlyfsTer17)
c.2901_2902insGGGA (p.His968GlyfsTer17)
n.3147_3148insGGGA
 dbSNP gnomAD v3 gnomAD v4
11g.77182089C>ACA381944186MYO7Ac.3043C>A (p.His1015Asn)
c.1108C>A (p.His370Asn)
c.884C>A
c.3010C>A (p.His1004Asn)
c.586C>A (p.His196Asn)
n.586C>A
c.2824C>A (p.His942Asn)
c.2812C>A (p.His938Asn)
c.2785C>A (p.His929Asn)
n.3363C>A
n.3365C>A
c.3133C>A (p.His1045Asn)
c.2902C>A (p.His968Asn)
n.3148C>A
 dbSNP
11g.77182089C=CA1984113431MYO7Ac.3043C= (p.His1015=)
c.1108C= (p.His370=)
c.884C=
c.3010C= (p.His1004=)
c.586C= (p.His196=)
n.586C=
c.2824C= (p.His942=)
c.2812C= (p.His938=)
c.2785C= (p.His929=)
n.3363C=
n.3365C=
c.3133C= (p.His1045=)
c.2902C= (p.His968=)
n.3148C=
11g.77182089C>GCA381944187MYO7Ac.3043C>G (p.His1015Asp)
c.1108C>G (p.His370Asp)
c.884C>G
c.3010C>G (p.His1004Asp)
c.586C>G (p.His196Asp)
n.586C>G
c.2824C>G (p.His942Asp)
c.2812C>G (p.His938Asp)
c.2785C>G (p.His929Asp)
n.3363C>G
n.3365C>G
c.3133C>G (p.His1045Asp)
c.2902C>G (p.His968Asp)
n.3148C>G
11g.77182089C>TCA381944185MYO7Ac.3043C>T (p.His1015Tyr)
c.1108C>T (p.His370Tyr)
c.884C>T
c.3010C>T (p.His1004Tyr)
c.586C>T (p.His196Tyr)
n.586C>T
c.2824C>T (p.His942Tyr)
c.2812C>T (p.His938Tyr)
c.2785C>T (p.His929Tyr)
n.3363C>T
n.3365C>T
c.3133C>T (p.His1045Tyr)
c.2902C>T (p.His968Tyr)
n.3148C>T
 gnomAD v4
11g.77182090A>CCA381944189MYO7Ac.3044A>C (p.His1015Pro)
c.1109A>C (p.His370Pro)
c.885A>C
c.3011A>C (p.His1004Pro)
c.587A>C (p.His196Pro)
n.587A>C
c.2825A>C (p.His942Pro)
c.2813A>C (p.His938Pro)
c.2786A>C (p.His929Pro)
n.3364A>C
n.3366A>C
c.3134A>C (p.His1045Pro)
c.2903A>C (p.His968Pro)
n.3149A>C
 gnomAD v4
11g.77182090A>GCA381944188MYO7Ac.3044A>G (p.His1015Arg)
c.1109A>G (p.His370Arg)
c.885A>G
c.3011A>G (p.His1004Arg)
c.587A>G (p.His196Arg)
n.587A>G
c.2825A>G (p.His942Arg)
c.2813A>G (p.His938Arg)
c.2786A>G (p.His929Arg)
n.3364A>G
n.3366A>G
c.3134A>G (p.His1045Arg)
c.2903A>G (p.His968Arg)
n.3149A>G
 gnomAD v4
11g.77182090A>TCA381944190MYO7Ac.3044A>T (p.His1015Leu)
c.1109A>T (p.His370Leu)
c.885A>T
c.3011A>T (p.His1004Leu)
c.587A>T (p.His196Leu)
n.587A>T
c.2825A>T (p.His942Leu)
c.2813A>T (p.His938Leu)
c.2786A>T (p.His929Leu)
n.3364A>T
n.3366A>T
c.3134A>T (p.His1045Leu)
c.2903A>T (p.His968Leu)
n.3149A>T
11g.77182090dupCA939776740MYO7Ac.3044dup (p.His1015GlnfsTer16)
c.1109dup (p.His370GlnfsTer16)
c.885dup
c.3011dup (p.His1004GlnfsTer16)
c.587dup (p.His196GlnfsTer16)
n.587dup
c.2825dup (p.His942GlnfsTer16)
c.2813dup (p.His938GlnfsTer16)
c.2786dup (p.His929GlnfsTer16)
n.3364dup
n.3366dup
c.3134dup (p.His1045GlnfsTer16)
c.2903dup (p.His968GlnfsTer16)
n.3149dup
 dbSNP gnomAD v3 gnomAD v4
11g.77182091C>ACA381944191MYO7Ac.3045C>A (p.His1015Gln)
c.1110C>A (p.His370Gln)
c.886C>A
c.3012C>A (p.His1004Gln)
c.588C>A (p.His196Gln)
n.588C>A
c.2826C>A (p.His942Gln)
c.2814C>A (p.His938Gln)
c.2787C>A (p.His929Gln)
n.3365C>A
n.3367C>A
c.3135C>A (p.His1045Gln)
c.2904C>A (p.His968Gln)
n.3150C>A
11g.77182091C>GCA381944192MYO7Ac.3045C>G (p.His1015Gln)
c.1110C>G (p.His370Gln)
c.886C>G
c.3012C>G (p.His1004Gln)
c.588C>G (p.His196Gln)
n.588C>G
c.2826C>G (p.His942Gln)
c.2814C>G (p.His938Gln)
c.2787C>G (p.His929Gln)
n.3365C>G
n.3367C>G
c.3135C>G (p.His1045Gln)
c.2904C>G (p.His968Gln)
n.3150C>G
11g.77182092T>ACA381944193MYO7Ac.3046T>A (p.Ser1016Thr)
c.1111T>A (p.Ser371Thr)
c.887T>A
c.3013T>A (p.Ser1005Thr)
c.589T>A (p.Ser197Thr)
n.589T>A
c.2827T>A (p.Ser943Thr)
c.2815T>A (p.Ser939Thr)
c.2788T>A (p.Ser930Thr)
n.3366T>A
n.3368T>A
c.3136T>A (p.Ser1046Thr)
c.2905T>A (p.Ser969Thr)
n.3151T>A
11g.77182092T>CCA224841761MYO7Ac.3046T>C (p.Ser1016Pro)
c.1111T>C (p.Ser371Pro)
c.887T>C
c.3013T>C (p.Ser1005Pro)
c.589T>C (p.Ser197Pro)
n.589T>C
c.2827T>C (p.Ser943Pro)
c.2815T>C (p.Ser939Pro)
c.2788T>C (p.Ser930Pro)
n.3366T>C
n.3368T>C
c.3136T>C (p.Ser1046Pro)
c.2905T>C (p.Ser969Pro)
n.3151T>C
 dbSNP gnomAD v4
11g.77182092T>GCA381944194MYO7Ac.3046T>G (p.Ser1016Ala)
c.1111T>G (p.Ser371Ala)
c.887T>G
c.3013T>G (p.Ser1005Ala)
c.589T>G (p.Ser197Ala)
n.589T>G
c.2827T>G (p.Ser943Ala)
c.2815T>G (p.Ser939Ala)
c.2788T>G (p.Ser930Ala)
n.3366T>G
n.3368T>G
c.3136T>G (p.Ser1046Ala)
c.2905T>G (p.Ser969Ala)
n.3151T>G
11g.77182092T=CA1984113437MYO7Ac.3046T= (p.Ser1016=)
c.1111T= (p.Ser371=)
c.887T=
c.3013T= (p.Ser1005=)
c.589T= (p.Ser197=)
n.589T=
c.2827T= (p.Ser943=)
c.2815T= (p.Ser939=)
c.2788T= (p.Ser930=)
n.3366T=
n.3368T=
c.3136T= (p.Ser1046=)
c.2905T= (p.Ser969=)
n.3151T=
11g.77182093C>ACA381944195MYO7Ac.3047C>A (p.Ser1016Tyr)
c.1112C>A (p.Ser371Tyr)
c.888C>A
c.3014C>A (p.Ser1005Tyr)
c.590C>A (p.Ser197Tyr)
n.590C>A
c.2828C>A (p.Ser943Tyr)
c.2816C>A (p.Ser939Tyr)
c.2789C>A (p.Ser930Tyr)
n.3367C>A
n.3369C>A
c.3137C>A (p.Ser1046Tyr)
c.2906C>A (p.Ser969Tyr)
n.3152C>A
11g.77182093C=CA1984113441MYO7Ac.3047C= (p.Ser1016=)
c.1112C= (p.Ser371=)
c.888C=
c.3014C= (p.Ser1005=)
c.590C= (p.Ser197=)
n.590C=
c.2828C= (p.Ser943=)
c.2816C= (p.Ser939=)
c.2789C= (p.Ser930=)
n.3367C=
n.3369C=
c.3137C= (p.Ser1046=)
c.2906C= (p.Ser969=)
n.3152C=
11g.77182093C>GCA381944196MYO7Ac.3047C>G (p.Ser1016Cys)
c.1112C>G (p.Ser371Cys)
c.888C>G
c.3014C>G (p.Ser1005Cys)
c.590C>G (p.Ser197Cys)
n.590C>G
c.2828C>G (p.Ser943Cys)
c.2816C>G (p.Ser939Cys)
c.2789C>G (p.Ser930Cys)
n.3367C>G
n.3369C>G
c.3137C>G (p.Ser1046Cys)
c.2906C>G (p.Ser969Cys)
n.3152C>G
11g.77182093C>TCA381944197MYO7Ac.3047C>T (p.Ser1016Phe)
c.1112C>T (p.Ser371Phe)
c.888C>T
c.3014C>T (p.Ser1005Phe)
c.590C>T (p.Ser197Phe)
n.590C>T
c.2828C>T (p.Ser943Phe)
c.2816C>T (p.Ser939Phe)
c.2789C>T (p.Ser930Phe)
n.3367C>T
n.3369C>T
c.3137C>T (p.Ser1046Phe)
c.2906C>T (p.Ser969Phe)
n.3152C>T
 dbSNP gnomAD v3 gnomAD v4
11g.77182093_77182096delinsCCTACA1984113440MYO7Ac.3047_3050delinsCCTA (p.Ser1016=)
c.1112_1115delinsCCTA (p.Ser371=)
c.888_891delinsCCTA
c.3014_3017delinsCCTA (p.Ser1005=)
c.590_593delinsCCTA (p.Ser197=)
n.590_593delinsCCTA
c.2828_2831delinsCCTA (p.Ser943=)
c.2816_2819delinsCCTA (p.Ser939=)
c.2789_2792delinsCCTA (p.Ser930=)
n.3367_3370delinsCCTA
n.3369_3372delinsCCTA
c.3137_3140delinsCCTA (p.Ser1046=)
c.2906_2909delinsCCTA (p.Ser969=)
n.3152_3155delinsCCTA
11g.77182094C>TCA2615256414MYO7Ac.3048C>T (p.Ser1016=)
c.1113C>T (p.Ser371=)
c.889C>T
c.3015C>T (p.Ser1005=)
c.591C>T (p.Ser197=)
n.591C>T
c.2829C>T (p.Ser943=)
c.2817C>T (p.Ser939=)
c.2790C>T (p.Ser930=)
n.3368C>T
n.3370C>T
c.3138C>T (p.Ser1046=)
c.2907C>T (p.Ser969=)
n.3153C>T
 gnomAD v4
11g.77182095_77182097delCA658822154MYO7Ac.3049_3051del (p.Tyr1017del)
c.1114_1116del (p.Tyr372del)
c.890_892del
c.3016_3018del (p.Tyr1006del)
c.592_594del (p.Tyr198del)
n.592_594del
c.2830_2832del (p.Tyr944del)
c.2818_2820del (p.Tyr940del)
c.2791_2793del (p.Tyr931del)
n.3369_3371del
n.3371_3373del
c.3139_3141del (p.Tyr1047del)
c.2908_2910del (p.Tyr970del)
n.3154_3156del
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77182095T>ACA381944198MYO7Ac.3049T>A (p.Tyr1017Asn)
c.1114T>A (p.Tyr372Asn)
c.890T>A
c.3016T>A (p.Tyr1006Asn)
c.592T>A (p.Tyr198Asn)
n.592T>A
c.2830T>A (p.Tyr944Asn)
c.2818T>A (p.Tyr940Asn)
c.2791T>A (p.Tyr931Asn)
n.3369T>A
n.3371T>A
c.3139T>A (p.Tyr1047Asn)
c.2908T>A (p.Tyr970Asn)
n.3154T>A
11g.77182095T>CCA381944199MYO7Ac.3049T>C (p.Tyr1017His)
c.1114T>C (p.Tyr372His)
c.890T>C
c.3016T>C (p.Tyr1006His)
c.592T>C (p.Tyr198His)
n.592T>C
c.2830T>C (p.Tyr944His)
c.2818T>C (p.Tyr940His)
c.2791T>C (p.Tyr931His)
n.3369T>C
n.3371T>C
c.3139T>C (p.Tyr1047His)
c.2908T>C (p.Tyr970His)
n.3154T>C
11g.77182095T>GCA381944200MYO7Ac.3049T>G (p.Tyr1017Asp)
c.1114T>G (p.Tyr372Asp)
c.890T>G
c.3016T>G (p.Tyr1006Asp)
c.592T>G (p.Tyr198Asp)
n.592T>G
c.2830T>G (p.Tyr944Asp)
c.2818T>G (p.Tyr940Asp)
c.2791T>G (p.Tyr931Asp)
n.3369T>G
n.3371T>G
c.3139T>G (p.Tyr1047Asp)
c.2908T>G (p.Tyr970Asp)
n.3154T>G
11g.77182096A>CCA381944203MYO7Ac.3050A>C (p.Tyr1017Ser)
c.1115A>C (p.Tyr372Ser)
c.891A>C
c.3017A>C (p.Tyr1006Ser)
c.593A>C (p.Tyr198Ser)
n.593A>C
c.2831A>C (p.Tyr944Ser)
c.2819A>C (p.Tyr940Ser)
c.2792A>C (p.Tyr931Ser)
n.3370A>C
n.3372A>C
c.3140A>C (p.Tyr1047Ser)
c.2909A>C (p.Tyr970Ser)
n.3155A>C
11g.77182096A>GCA381944201MYO7Ac.3050A>G (p.Tyr1017Cys)
c.1115A>G (p.Tyr372Cys)
c.891A>G
c.3017A>G (p.Tyr1006Cys)
c.593A>G (p.Tyr198Cys)
n.593A>G
c.2831A>G (p.Tyr944Cys)
c.2819A>G (p.Tyr940Cys)
c.2792A>G (p.Tyr931Cys)
n.3370A>G
n.3372A>G
c.3140A>G (p.Tyr1047Cys)
c.2909A>G (p.Tyr970Cys)
n.3155A>G
11g.77182096A>TCA381944202MYO7Ac.3050A>T (p.Tyr1017Phe)
c.1115A>T (p.Tyr372Phe)
c.891A>T
c.3017A>T (p.Tyr1006Phe)
c.593A>T (p.Tyr198Phe)
n.593A>T
c.2831A>T (p.Tyr944Phe)
c.2819A>T (p.Tyr940Phe)
c.2792A>T (p.Tyr931Phe)
n.3370A>T
n.3372A>T
c.3140A>T (p.Tyr1047Phe)
c.2909A>T (p.Tyr970Phe)
n.3155A>T
11g.77182097C>ACA381944204MYO7Ac.3051C>A (p.Tyr1017Ter)
c.1116C>A (p.Tyr372Ter)
c.892C>A
c.3018C>A (p.Tyr1006Ter)
c.594C>A (p.Tyr198Ter)
n.594C>A
c.2832C>A (p.Tyr944Ter)
c.2820C>A (p.Tyr940Ter)
c.2793C>A (p.Tyr931Ter)
n.3371C>A
n.3373C>A
c.3141C>A (p.Tyr1047Ter)
c.2910C>A (p.Tyr970Ter)
n.3156C>A
11g.77182097C>GCA381944205MYO7Ac.3051C>G (p.Tyr1017Ter)
c.1116C>G (p.Tyr372Ter)
c.892C>G
c.3018C>G (p.Tyr1006Ter)
c.594C>G (p.Tyr198Ter)
n.594C>G
c.2832C>G (p.Tyr944Ter)
c.2820C>G (p.Tyr940Ter)
c.2793C>G (p.Tyr931Ter)
n.3371C>G
n.3373C>G
c.3141C>G (p.Tyr1047Ter)
c.2910C>G (p.Tyr970Ter)
n.3156C>G
11g.77182097C>TCA2615256417MYO7Ac.3051C>T (p.Tyr1017=)
c.1116C>T (p.Tyr372=)
c.892C>T
c.3018C>T (p.Tyr1006=)
c.594C>T (p.Tyr198=)
n.594C>T
c.2832C>T (p.Tyr944=)
c.2820C>T (p.Tyr940=)
c.2793C>T (p.Tyr931=)
n.3371C>T
n.3373C>T
c.3141C>T (p.Tyr1047=)
c.2910C>T (p.Tyr970=)
n.3156C>T
 ClinVar gnomAD v4
11g.77182098A=CA1984113451MYO7Ac.3052A= (p.Thr1018=)
c.1117A= (p.Thr373=)
c.893A=
c.3019A= (p.Thr1007=)
c.595A= (p.Thr199=)
n.595A=
c.2833A= (p.Thr945=)
c.2821A= (p.Thr941=)
c.2794A= (p.Thr932=)
n.3372A=
n.3374A=
c.3142A= (p.Thr1048=)
c.2911A= (p.Thr971=)
n.3157A=
11g.77182098A>CCA381944206MYO7Ac.3052A>C (p.Thr1018Pro)
c.1117A>C (p.Thr373Pro)
c.893A>C
c.3019A>C (p.Thr1007Pro)
c.595A>C (p.Thr199Pro)
n.595A>C
c.2833A>C (p.Thr945Pro)
c.2821A>C (p.Thr941Pro)
c.2794A>C (p.Thr932Pro)
n.3372A>C
n.3374A>C
c.3142A>C (p.Thr1048Pro)
c.2911A>C (p.Thr971Pro)
n.3157A>C
 dbSNP
11g.77182098A>GCA381944207MYO7Ac.3052A>G (p.Thr1018Ala)
c.1117A>G (p.Thr373Ala)
c.893A>G
c.3019A>G (p.Thr1007Ala)
c.595A>G (p.Thr199Ala)
n.595A>G
c.2833A>G (p.Thr945Ala)
c.2821A>G (p.Thr941Ala)
c.2794A>G (p.Thr932Ala)
n.3372A>G
n.3374A>G
c.3142A>G (p.Thr1048Ala)
c.2911A>G (p.Thr971Ala)
n.3157A>G
 dbSNP
11g.77182098A>TCA381944208MYO7Ac.3052A>T (p.Thr1018Ser)
c.1117A>T (p.Thr373Ser)
c.893A>T
c.3019A>T (p.Thr1007Ser)
c.595A>T (p.Thr199Ser)
n.595A>T
c.2833A>T (p.Thr945Ser)
c.2821A>T (p.Thr941Ser)
c.2794A>T (p.Thr932Ser)
n.3372A>T
n.3374A>T
c.3142A>T (p.Thr1048Ser)
c.2911A>T (p.Thr971Ser)
n.3157A>T
11g.77182099C>ACA381944209MYO7Ac.3053C>A (p.Thr1018Asn)
c.1118C>A (p.Thr373Asn)
c.894C>A
c.3020C>A (p.Thr1007Asn)
c.596C>A (p.Thr199Asn)
n.596C>A
c.2834C>A (p.Thr945Asn)
c.2822C>A (p.Thr941Asn)
c.2795C>A (p.Thr932Asn)
n.3373C>A
n.3375C>A
c.3143C>A (p.Thr1048Asn)
c.2912C>A (p.Thr971Asn)
n.3158C>A
11g.77182099C=CA1984113460MYO7Ac.3053C= (p.Thr1018=)
c.1118C= (p.Thr373=)
c.894C=
c.3020C= (p.Thr1007=)
c.596C= (p.Thr199=)
n.596C=
c.2834C= (p.Thr945=)
c.2822C= (p.Thr941=)
c.2795C= (p.Thr932=)
n.3373C=
n.3375C=
c.3143C= (p.Thr1048=)
c.2912C= (p.Thr971=)
n.3158C=
11g.77182099C>GCA381944210MYO7Ac.3053C>G (p.Thr1018Ser)
c.1118C>G (p.Thr373Ser)
c.894C>G
c.3020C>G (p.Thr1007Ser)
c.596C>G (p.Thr199Ser)
n.596C>G
c.2834C>G (p.Thr945Ser)
c.2822C>G (p.Thr941Ser)
c.2795C>G (p.Thr932Ser)
n.3373C>G
n.3375C>G
c.3143C>G (p.Thr1048Ser)
c.2912C>G (p.Thr971Ser)
n.3158C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77182099C>TCA224841764MYO7Ac.3053C>T (p.Thr1018Ile)
c.1118C>T (p.Thr373Ile)
c.894C>T
c.3020C>T (p.Thr1007Ile)
c.596C>T (p.Thr199Ile)
n.596C>T
c.2834C>T (p.Thr945Ile)
c.2822C>T (p.Thr941Ile)
c.2795C>T (p.Thr932Ile)
n.3373C>T
n.3375C>T
c.3143C>T (p.Thr1048Ile)
c.2912C>T (p.Thr971Ile)
n.3158C>T
 ClinVar dbSNP gnomAD v4
11g.77182101dupCA2842615872MYO7Ac.3055dup (p.Arg1019ProfsTer12)
c.1120dup (p.Arg374ProfsTer12)
c.896dup
c.3022dup (p.Arg1008ProfsTer12)
c.598dup (p.Arg200ProfsTer12)
n.598dup
c.2836dup (p.Arg946ProfsTer12)
c.2824dup (p.Arg942ProfsTer12)
c.2797dup (p.Arg933ProfsTer12)
n.3375dup
n.3377dup
c.3145dup (p.Arg1049ProfsTer12)
c.2914dup (p.Arg972ProfsTer12)
n.3160dup
11g.77182099_77182102delinsCCCGCA1984113456MYO7Ac.3053_3056delinsCCCG (p.Thr1018=)
c.1118_1121delinsCCCG (p.Thr373=)
c.894_897delinsCCCG
c.3020_3023delinsCCCG (p.Thr1007=)
c.596_599delinsCCCG (p.Thr199=)
n.596_599delinsCCCG
c.2834_2837delinsCCCG (p.Thr945=)
c.2822_2825delinsCCCG (p.Thr941=)
c.2795_2798delinsCCCG (p.Thr932=)
n.3373_3376delinsCCCG
n.3375_3378delinsCCCG
c.3143_3146delinsCCCG (p.Thr1048=)
c.2912_2915delinsCCCG (p.Thr971=)
n.3158_3161delinsCCCG
11g.77182100C>GCA2615256427MYO7Ac.3054C>G (p.Thr1018=)
c.1119C>G (p.Thr373=)
c.895C>G
c.3021C>G (p.Thr1007=)
c.597C>G (p.Thr199=)
n.597C>G
c.2835C>G (p.Thr945=)
c.2823C>G (p.Thr941=)
c.2796C>G (p.Thr932=)
n.3374C>G
n.3376C>G
c.3144C>G (p.Thr1048=)
c.2913C>G (p.Thr971=)
n.3159C>G
 gnomAD v4
11g.77182100C>TCA2615256428MYO7Ac.3054C>T (p.Thr1018=)
c.1119C>T (p.Thr373=)
c.895C>T
c.3021C>T (p.Thr1007=)
c.597C>T (p.Thr199=)
n.597C>T
c.2835C>T (p.Thr945=)
c.2823C>T (p.Thr941=)
c.2796C>T (p.Thr932=)
n.3374C>T
n.3376C>T
c.3144C>T (p.Thr1048=)
c.2913C>T (p.Thr971=)
n.3159C>T
 gnomAD v4
11g.77182100_77182102delCA680371284MYO7Ac.3054_3056del (p.Arg1019del)
c.1119_1121del (p.Arg374del)
c.895_897del
c.3021_3023del (p.Arg1008del)
c.597_599del (p.Arg200del)
n.597_599del
c.2835_2837del (p.Arg946del)
c.2823_2825del (p.Arg942del)
c.2796_2798del (p.Arg933del)
n.3374_3376del
n.3376_3378del
c.3144_3146del (p.Arg1049del)
c.2913_2915del (p.Arg972del)
n.3159_3161del
 dbSNP gnomAD v4
11g.77182101C>ACA224841767MYO7Ac.3055C>A (p.Arg1019=)
c.1120C>A (p.Arg374=)
c.896C>A
c.3022C>A (p.Arg1008=)
c.598C>A (p.Arg200=)
n.598C>A
c.2836C>A (p.Arg946=)
c.2824C>A (p.Arg942=)
c.2797C>A (p.Arg933=)
n.3375C>A
n.3377C>A
c.3145C>A (p.Arg1049=)
c.2914C>A (p.Arg972=)
n.3160C>A
 dbSNP gnomAD v4
11g.77182101C=CA1984113467MYO7Ac.3055C= (p.Arg1019=)
c.1120C= (p.Arg374=)
c.896C=
c.3022C= (p.Arg1008=)
c.598C= (p.Arg200=)
n.598C=
c.2836C= (p.Arg946=)
c.2824C= (p.Arg942=)
c.2797C= (p.Arg933=)
n.3375C=
n.3377C=
c.3145C= (p.Arg1049=)
c.2914C= (p.Arg972=)
n.3160C=
11g.77182101C>GCA381944211MYO7Ac.3055C>G (p.Arg1019Gly)
c.1120C>G (p.Arg374Gly)
c.896C>G
c.3022C>G (p.Arg1008Gly)
c.598C>G (p.Arg200Gly)
n.598C>G
c.2836C>G (p.Arg946Gly)
c.2824C>G (p.Arg942Gly)
c.2797C>G (p.Arg933Gly)
n.3375C>G
n.3377C>G
c.3145C>G (p.Arg1049Gly)
c.2914C>G (p.Arg972Gly)
n.3160C>G
11g.77182101C>TCA224841768MYO7Ac.3055C>T (p.Arg1019Trp)
c.1120C>T (p.Arg374Trp)
c.896C>T
c.3022C>T (p.Arg1008Trp)
c.598C>T (p.Arg200Trp)
n.598C>T
c.2836C>T (p.Arg946Trp)
c.2824C>T (p.Arg942Trp)
c.2797C>T (p.Arg933Trp)
n.3375C>T
n.3377C>T
c.3145C>T (p.Arg1049Trp)
c.2914C>T (p.Arg972Trp)
n.3160C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77182102G>ACA224841770MYO7Ac.3056G>A (p.Arg1019Gln)
c.1121G>A (p.Arg374Gln)
c.897G>A
c.3023G>A (p.Arg1008Gln)
c.599G>A (p.Arg200Gln)
n.599G>A
c.2837G>A (p.Arg946Gln)
c.2825G>A (p.Arg942Gln)
c.2798G>A (p.Arg933Gln)
n.3376G>A
n.3378G>A
c.3146G>A (p.Arg1049Gln)
c.2915G>A (p.Arg972Gln)
n.3161G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77182102G>CCA381944213MYO7Ac.3056G>C (p.Arg1019Pro)
c.1121G>C (p.Arg374Pro)
c.897G>C
c.3023G>C (p.Arg1008Pro)
c.599G>C (p.Arg200Pro)
n.599G>C
c.2837G>C (p.Arg946Pro)
c.2825G>C (p.Arg942Pro)
c.2798G>C (p.Arg933Pro)
n.3376G>C
n.3378G>C
c.3146G>C (p.Arg1049Pro)
c.2915G>C (p.Arg972Pro)
n.3161G>C
11g.77182102G=CA1984113471MYO7Ac.3056G= (p.Arg1019=)
c.1121G= (p.Arg374=)
c.897G=
c.3023G= (p.Arg1008=)
c.599G= (p.Arg200=)
n.599G=
c.2837G= (p.Arg946=)
c.2825G= (p.Arg942=)
c.2798G= (p.Arg933=)
n.3376G=
n.3378G=
c.3146G= (p.Arg1049=)
c.2915G= (p.Arg972=)
n.3161G=
11g.77182102G>TCA381944212MYO7Ac.3056G>T (p.Arg1019Leu)
c.1121G>T (p.Arg374Leu)
c.897G>T
c.3023G>T (p.Arg1008Leu)
c.599G>T (p.Arg200Leu)
n.599G>T
c.2837G>T (p.Arg946Leu)
c.2825G>T (p.Arg942Leu)
c.2798G>T (p.Arg933Leu)
n.3376G>T
n.3378G>T
c.3146G>T (p.Arg1049Leu)
c.2915G>T (p.Arg972Leu)
n.3161G>T
11g.77182103G>ACA2615256444MYO7Ac.3057G>A (p.Arg1019=)
c.1122G>A (p.Arg374=)
c.898G>A
c.3024G>A (p.Arg1008=)
c.600G>A (p.Arg200=)
n.600G>A
c.2838G>A (p.Arg946=)
c.2826G>A (p.Arg942=)
c.2799G>A (p.Arg933=)
n.3377G>A
n.3379G>A
c.3147G>A (p.Arg1049=)
c.2916G>A (p.Arg972=)
n.3162G>A
 gnomAD v4
11g.77182104C>ACA2724197286MYO7Ac.3058C>A (p.Arg1020=)
c.1123C>A (p.Arg375=)
c.899C>A
c.3025C>A (p.Arg1009=)
c.601C>A (p.Arg201=)
n.601C>A
c.2839C>A (p.Arg947=)
c.2827C>A (p.Arg943=)
c.2800C>A (p.Arg934=)
n.3378C>A
n.3380C>A
c.3148C>A (p.Arg1050=)
c.2917C>A (p.Arg973=)
n.3163C>A
 dbSNP
11g.77182104C=CA1984113475MYO7Ac.3058C= (p.Arg1020=)
c.1123C= (p.Arg375=)
c.899C=
c.3025C= (p.Arg1009=)
c.601C= (p.Arg201=)
n.601C=
c.2839C= (p.Arg947=)
c.2827C= (p.Arg943=)
c.2800C= (p.Arg934=)
n.3378C=
n.3380C=
c.3148C= (p.Arg1050=)
c.2917C= (p.Arg973=)
n.3163C=
11g.77182104C>GCA381944214MYO7Ac.3058C>G (p.Arg1020Gly)
c.1123C>G (p.Arg375Gly)
c.899C>G
c.3025C>G (p.Arg1009Gly)
c.601C>G (p.Arg201Gly)
n.601C>G
c.2839C>G (p.Arg947Gly)
c.2827C>G (p.Arg943Gly)
c.2800C>G (p.Arg934Gly)
n.3378C>G
n.3380C>G
c.3148C>G (p.Arg1050Gly)
c.2917C>G (p.Arg973Gly)
n.3163C>G
11g.77182104C>TCA224841773MYO7Ac.3058C>T (p.Arg1020Trp)
c.1123C>T (p.Arg375Trp)
c.899C>T
c.3025C>T (p.Arg1009Trp)
c.601C>T (p.Arg201Trp)
n.601C>T
c.2839C>T (p.Arg947Trp)
c.2827C>T (p.Arg943Trp)
c.2800C>T (p.Arg934Trp)
n.3378C>T
n.3380C>T
c.3148C>T (p.Arg1050Trp)
c.2917C>T (p.Arg973Trp)
n.3163C>T
 dbSNP gnomAD v4
11g.77182105G>ACA224841775MYO7Ac.3059G>A (p.Arg1020Gln)
c.1124G>A (p.Arg375Gln)
c.900G>A
c.3026G>A (p.Arg1009Gln)
c.602G>A (p.Arg201Gln)
n.602G>A
c.2840G>A (p.Arg947Gln)
c.2828G>A (p.Arg943Gln)
c.2801G>A (p.Arg934Gln)
n.3379G>A
n.3381G>A
c.3149G>A (p.Arg1050Gln)
c.2918G>A (p.Arg973Gln)
n.3164G>A
 ClinVar dbSNP gnomAD v4
11g.77182105G>CCA381944215MYO7Ac.3059G>C (p.Arg1020Pro)
c.1124G>C (p.Arg375Pro)
c.900G>C
c.3026G>C (p.Arg1009Pro)
c.602G>C (p.Arg201Pro)
n.602G>C
c.2840G>C (p.Arg947Pro)
c.2828G>C (p.Arg943Pro)
c.2801G>C (p.Arg934Pro)
n.3379G>C
n.3381G>C
c.3149G>C (p.Arg1050Pro)
c.2918G>C (p.Arg973Pro)
n.3164G>C
11g.77182105G=CA1984113480MYO7Ac.3059G= (p.Arg1020=)
c.1124G= (p.Arg375=)
c.900G=
c.3026G= (p.Arg1009=)
c.602G= (p.Arg201=)
n.602G=
c.2840G= (p.Arg947=)
c.2828G= (p.Arg943=)
c.2801G= (p.Arg934=)
n.3379G=
n.3381G=
c.3149G= (p.Arg1050=)
c.2918G= (p.Arg973=)
n.3164G=
11g.77182105G>TCA381944216MYO7Ac.3059G>T (p.Arg1020Leu)
c.1124G>T (p.Arg375Leu)
c.900G>T
c.3026G>T (p.Arg1009Leu)
c.602G>T (p.Arg201Leu)
n.602G>T
c.2840G>T (p.Arg947Leu)
c.2828G>T (p.Arg943Leu)
c.2801G>T (p.Arg934Leu)
n.3379G>T
n.3381G>T
c.3149G>T (p.Arg1050Leu)
c.2918G>T (p.Arg973Leu)
n.3164G>T
11g.77182106delCA2574931382MYO7Ac.3060del (p.Pro1021HisfsTer?)
c.1125del (p.Pro376HisfsTer?)
c.901del
c.3027del (p.Pro1010HisfsTer?)
c.603del (p.Pro202HisfsTer?)
n.603del
c.2841del (p.Pro948HisfsTer?)
c.2829del (p.Pro944HisfsTer?)
c.2802del (p.Pro935HisfsTer?)
n.3380del
n.3382del
c.3150del (p.Pro1051HisfsTer?)
c.2919del (p.Pro974HisfsTer?)
n.3165del
11g.77182107C>ACA381944219MYO7Ac.3061C>A (p.Pro1021Thr)
c.1126C>A (p.Pro376Thr)
c.902C>A
c.3028C>A (p.Pro1010Thr)
c.604C>A (p.Pro202Thr)
n.604C>A
c.2842C>A (p.Pro948Thr)
c.2830C>A (p.Pro944Thr)
c.2803C>A (p.Pro935Thr)
n.3381C>A
n.3383C>A
c.3151C>A (p.Pro1051Thr)
c.2920C>A (p.Pro974Thr)
n.3166C>A
11g.77182107C>GCA381944218MYO7Ac.3061C>G (p.Pro1021Ala)
c.1126C>G (p.Pro376Ala)
c.902C>G
c.3028C>G (p.Pro1010Ala)
c.604C>G (p.Pro202Ala)
n.604C>G
c.2842C>G (p.Pro948Ala)
c.2830C>G (p.Pro944Ala)
c.2803C>G (p.Pro935Ala)
n.3381C>G
n.3383C>G
c.3151C>G (p.Pro1051Ala)
c.2920C>G (p.Pro974Ala)
n.3166C>G
11g.77182107C>TCA381944217MYO7Ac.3061C>T (p.Pro1021Ser)
c.1126C>T (p.Pro376Ser)
c.902C>T
c.3028C>T (p.Pro1010Ser)
c.604C>T (p.Pro202Ser)
n.604C>T
c.2842C>T (p.Pro948Ser)
c.2830C>T (p.Pro944Ser)
c.2803C>T (p.Pro935Ser)
n.3381C>T
n.3383C>T
c.3151C>T (p.Pro1051Ser)
c.2920C>T (p.Pro974Ser)
n.3166C>T
11g.77182107_77182111delinsCCACTCA1984113483MYO7Ac.3061_3065delinsCCACT (p.Pro1021=)
c.1126_1130delinsCCACT (p.Pro376=)
c.902_906delinsCCACT
c.3028_3032delinsCCACT (p.Pro1010=)
c.604_608delinsCCACT (p.Pro202=)
n.604_608delinsCCACT
c.2842_2846delinsCCACT (p.Pro948=)
c.2830_2834delinsCCACT (p.Pro944=)
c.2803_2807delinsCCACT (p.Pro935=)
n.3381_3385delinsCCACT
n.3383_3387delinsCCACT
c.3151_3155delinsCCACT (p.Pro1051=)
c.2920_2924delinsCCACT (p.Pro974=)
n.3166_3170delinsCCACT
11g.77182108C>ACA381944220MYO7Ac.3062C>A (p.Pro1021Gln)
c.1127C>A (p.Pro376Gln)
c.903C>A
c.3029C>A (p.Pro1010Gln)
c.605C>A (p.Pro202Gln)
n.605C>A
c.2843C>A (p.Pro948Gln)
c.2831C>A (p.Pro944Gln)
c.2804C>A (p.Pro935Gln)
n.3382C>A
n.3384C>A
c.3152C>A (p.Pro1051Gln)
c.2921C>A (p.Pro974Gln)
n.3167C>A
11g.77182108C>GCA381944221MYO7Ac.3062C>G (p.Pro1021Arg)
c.1127C>G (p.Pro376Arg)
c.903C>G
c.3029C>G (p.Pro1010Arg)
c.605C>G (p.Pro202Arg)
n.605C>G
c.2843C>G (p.Pro948Arg)
c.2831C>G (p.Pro944Arg)
c.2804C>G (p.Pro935Arg)
n.3382C>G
n.3384C>G
c.3152C>G (p.Pro1051Arg)
c.2921C>G (p.Pro974Arg)
n.3167C>G
11g.77182108C>TCA381944222MYO7Ac.3062C>T (p.Pro1021Leu)
c.1127C>T (p.Pro376Leu)
c.903C>T
c.3029C>T (p.Pro1010Leu)
c.605C>T (p.Pro202Leu)
n.605C>T
c.2843C>T (p.Pro948Leu)
c.2831C>T (p.Pro944Leu)
c.2804C>T (p.Pro935Leu)
n.3382C>T
n.3384C>T
c.3152C>T (p.Pro1051Leu)
c.2921C>T (p.Pro974Leu)
n.3167C>T
 gnomAD v4
11g.77182110_77182113delCA645509491MYO7Ac.3064_3067del (p.Leu1022AsnfsTer?)
c.1129_1132del (p.Leu377AsnfsTer?)
c.905_908del
c.3031_3034del (p.Leu1011AsnfsTer?)
c.607_610del (p.Leu203AsnfsTer?)
n.607_610del
c.2845_2848del (p.Leu949AsnfsTer?)
c.2833_2836del (p.Leu945AsnfsTer?)
c.2806_2809del (p.Leu936AsnfsTer?)
n.3384_3387del
n.3386_3389del
c.3154_3157del (p.Leu1052AsnfsTer?)
c.2923_2926del (p.Leu975AsnfsTer?)
n.3169_3172del
 ClinVar dbSNP
11g.77182109A=CA1984113490MYO7Ac.3063A= (p.Pro1021=)
c.1128A= (p.Pro376=)
c.904A=
c.3030A= (p.Pro1010=)
c.606A= (p.Pro202=)
n.606A=
c.2844A= (p.Pro948=)
c.2832A= (p.Pro944=)
c.2805A= (p.Pro935=)
n.3383A=
n.3385A=
c.3153A= (p.Pro1051=)
c.2922A= (p.Pro974=)
n.3168A=
11g.77182109A>CCA1984113491MYO7Ac.3063A>C (p.Pro1021=)
c.1128A>C (p.Pro376=)
c.904A>C
c.3030A>C (p.Pro1010=)
c.606A>C (p.Pro202=)
n.606A>C
c.2844A>C (p.Pro948=)
c.2832A>C (p.Pro944=)
c.2805A>C (p.Pro935=)
n.3383A>C
n.3385A>C
c.3153A>C (p.Pro1051=)
c.2922A>C (p.Pro974=)
n.3168A>C
 ClinVar dbSNP gnomAD v4
11g.77182109A>GCA2615256463MYO7Ac.3063A>G (p.Pro1021=)
c.1128A>G (p.Pro376=)
c.904A>G
c.3030A>G (p.Pro1010=)
c.606A>G (p.Pro202=)
n.606A>G
c.2844A>G (p.Pro948=)
c.2832A>G (p.Pro944=)
c.2805A>G (p.Pro935=)
n.3383A>G
n.3385A>G
c.3153A>G (p.Pro1051=)
c.2922A>G (p.Pro974=)
n.3168A>G
 gnomAD v4
11g.77182110C>ACA381944223MYO7Ac.3064C>A (p.Leu1022Ile)
c.1129C>A (p.Leu377Ile)
c.905C>A
c.3031C>A (p.Leu1011Ile)
c.607C>A (p.Leu203Ile)
n.607C>A
c.2845C>A (p.Leu949Ile)
c.2833C>A (p.Leu945Ile)
c.2806C>A (p.Leu936Ile)
n.3384C>A
n.3386C>A
c.3154C>A (p.Leu1052Ile)
c.2923C>A (p.Leu975Ile)
n.3169C>A
 gnomAD v4
11g.77182110C>GCA381944224MYO7Ac.3064C>G (p.Leu1022Val)
c.1129C>G (p.Leu377Val)
c.905C>G
c.3031C>G (p.Leu1011Val)
c.607C>G (p.Leu203Val)
n.607C>G
c.2845C>G (p.Leu949Val)
c.2833C>G (p.Leu945Val)
c.2806C>G (p.Leu936Val)
n.3384C>G
n.3386C>G
c.3154C>G (p.Leu1052Val)
c.2923C>G (p.Leu975Val)
n.3169C>G
11g.77182110C>TCA381944225MYO7Ac.3064C>T (p.Leu1022Phe)
c.1129C>T (p.Leu377Phe)
c.905C>T
c.3031C>T (p.Leu1011Phe)
c.607C>T (p.Leu203Phe)
n.607C>T
c.2845C>T (p.Leu949Phe)
c.2833C>T (p.Leu945Phe)
c.2806C>T (p.Leu936Phe)
n.3384C>T
n.3386C>T
c.3154C>T (p.Leu1052Phe)
c.2923C>T (p.Leu975Phe)
n.3169C>T
 gnomAD v4
11g.77182111T>ACA381944226MYO7Ac.3065T>A (p.Leu1022His)
c.1130T>A (p.Leu377His)
c.906T>A
c.3032T>A (p.Leu1011His)
c.608T>A (p.Leu203His)
n.608T>A
c.2846T>A (p.Leu949His)
c.2834T>A (p.Leu945His)
c.2807T>A (p.Leu936His)
n.3385T>A
n.3387T>A
c.3155T>A (p.Leu1052His)
c.2924T>A (p.Leu975His)
n.3170T>A
11g.77182111T>CCA381944228MYO7Ac.3065T>C (p.Leu1022Pro)
c.1130T>C (p.Leu377Pro)
c.906T>C
c.3032T>C (p.Leu1011Pro)
c.608T>C (p.Leu203Pro)
n.608T>C
c.2846T>C (p.Leu949Pro)
c.2834T>C (p.Leu945Pro)
c.2807T>C (p.Leu936Pro)
n.3385T>C
n.3387T>C
c.3155T>C (p.Leu1052Pro)
c.2924T>C (p.Leu975Pro)
n.3170T>C
11g.77182111T>GCA381944227MYO7Ac.3065T>G (p.Leu1022Arg)
c.1130T>G (p.Leu377Arg)
c.906T>G
c.3032T>G (p.Leu1011Arg)
c.608T>G (p.Leu203Arg)
n.608T>G
c.2846T>G (p.Leu949Arg)
c.2834T>G (p.Leu945Arg)
c.2807T>G (p.Leu936Arg)
n.3385T>G
n.3387T>G
c.3155T>G (p.Leu1052Arg)
c.2924T>G (p.Leu975Arg)
n.3170T>G
11g.77182111_77182115delinsTCAAACA1984113493MYO7Ac.3065_3069delinsTCAAA (p.Leu1022=)
c.1130_1134delinsTCAAA (p.Leu377=)
c.906_910delinsTCAAA
c.3032_3036delinsTCAAA (p.Leu1011=)
c.608_612delinsTCAAA (p.Leu203=)
n.608_612delinsTCAAA
c.2846_2850delinsTCAAA (p.Leu949=)
c.2834_2838delinsTCAAA (p.Leu945=)
c.2807_2811delinsTCAAA (p.Leu936=)
n.3385_3389delinsTCAAA
n.3387_3391delinsTCAAA
c.3155_3159delinsTCAAA (p.Leu1052=)
c.2924_2928delinsTCAAA (p.Leu975=)
n.3170_3174delinsTCAAA
11g.77182114_77182117delCA918918631MYO7Ac.3068_3071del (p.Lys1023SerfsTer?)
c.1133_1136del (p.Lys378SerfsTer?)
c.909_912del
c.3035_3038del (p.Lys1012SerfsTer?)
c.611_614del (p.Lys204SerfsTer?)
n.611_614del
c.2849_2852del (p.Lys950SerfsTer?)
c.2837_2840del (p.Lys946SerfsTer?)
c.2810_2813del (p.Lys937SerfsTer?)
n.3388_3391del
n.3390_3393del
c.3158_3161del (p.Lys1053SerfsTer?)
c.2927_2930del (p.Lys976SerfsTer?)
n.3173_3176del
 dbSNP gnomAD v4
11g.77182112_77182113insGCA2615256474MYO7Ac.3066_3067insG (p.Lys1023GlufsTer8)
c.1131_1132insG (p.Lys378GlufsTer8)
c.907_908insG
c.3033_3034insG (p.Lys1012GlufsTer8)
c.609_610insG (p.Lys204GlufsTer8)
n.609_610insG
c.2847_2848insG (p.Lys950GlufsTer8)
c.2835_2836insG (p.Lys946GlufsTer8)
c.2808_2809insG (p.Lys937GlufsTer8)
n.3386_3387insG
n.3388_3389insG
c.3156_3157insG (p.Lys1053GlufsTer8)
c.2925_2926insG (p.Lys976GlufsTer8)
n.3171_3172insG
 gnomAD v4
11g.77182113A>CCA381944229MYO7Ac.3067A>C (p.Lys1023Gln)
c.1132A>C (p.Lys378Gln)
c.908A>C
c.3034A>C (p.Lys1012Gln)
c.610A>C (p.Lys204Gln)
n.610A>C
c.2848A>C (p.Lys950Gln)
c.2836A>C (p.Lys946Gln)
c.2809A>C (p.Lys937Gln)
n.3387A>C
n.3389A>C
c.3157A>C (p.Lys1053Gln)
c.2926A>C (p.Lys976Gln)
n.3172A>C
 gnomAD v4
11g.77182113A>GCA381944230MYO7Ac.3067A>G (p.Lys1023Glu)
c.1132A>G (p.Lys378Glu)
c.908A>G
c.3034A>G (p.Lys1012Glu)
c.610A>G (p.Lys204Glu)
n.610A>G
c.2848A>G (p.Lys950Glu)
c.2836A>G (p.Lys946Glu)
c.2809A>G (p.Lys937Glu)
n.3387A>G
n.3389A>G
c.3157A>G (p.Lys1053Glu)
c.2926A>G (p.Lys976Glu)
n.3172A>G
11g.77182113A>TCA381944231MYO7Ac.3067A>T (p.Lys1023Ter)
c.1132A>T (p.Lys378Ter)
c.908A>T
c.3034A>T (p.Lys1012Ter)
c.610A>T (p.Lys204Ter)
n.610A>T
c.2848A>T (p.Lys950Ter)
c.2836A>T (p.Lys946Ter)
c.2809A>T (p.Lys937Ter)
n.3387A>T
n.3389A>T
c.3157A>T (p.Lys1053Ter)
c.2926A>T (p.Lys976Ter)
n.3172A>T
11g.77182114A=CA1984113497MYO7Ac.3068A= (p.Lys1023=)
c.1133A= (p.Lys378=)
c.909A=
c.3035A= (p.Lys1012=)
c.611A= (p.Lys204=)
n.611A=
c.2849A= (p.Lys950=)
c.2837A= (p.Lys946=)
c.2810A= (p.Lys937=)
n.3388A=
n.3390A=
c.3158A= (p.Lys1053=)
c.2927A= (p.Lys976=)
n.3173A=
11g.77182114A>CCA381944232MYO7Ac.3068A>C (p.Lys1023Thr)
c.1133A>C (p.Lys378Thr)
c.909A>C
c.3035A>C (p.Lys1012Thr)
c.611A>C (p.Lys204Thr)
n.611A>C
c.2849A>C (p.Lys950Thr)
c.2837A>C (p.Lys946Thr)
c.2810A>C (p.Lys937Thr)
n.3388A>C
n.3390A>C
c.3158A>C (p.Lys1053Thr)
c.2927A>C (p.Lys976Thr)
n.3173A>C
11g.77182114A>GCA381944233MYO7Ac.3068A>G (p.Lys1023Arg)
c.1133A>G (p.Lys378Arg)
c.909A>G
c.3035A>G (p.Lys1012Arg)
c.611A>G (p.Lys204Arg)
n.611A>G
c.2849A>G (p.Lys950Arg)
c.2837A>G (p.Lys946Arg)
c.2810A>G (p.Lys937Arg)
n.3388A>G
n.3390A>G
c.3158A>G (p.Lys1053Arg)
c.2927A>G (p.Lys976Arg)
n.3173A>G
 dbSNP gnomAD v3 gnomAD v4
11g.77182114A>TCA381944234MYO7Ac.3068A>T (p.Lys1023Ile)
c.1133A>T (p.Lys378Ile)
c.909A>T
c.3035A>T (p.Lys1012Ile)
c.611A>T (p.Lys204Ile)
n.611A>T
c.2849A>T (p.Lys950Ile)
c.2837A>T (p.Lys946Ile)
c.2810A>T (p.Lys937Ile)
n.3388A>T
n.3390A>T
c.3158A>T (p.Lys1053Ile)
c.2927A>T (p.Lys976Ile)
n.3173A>T
11g.77182115A=CA1984113499MYO7Ac.3069A= (p.Lys1023=)
c.1134A= (p.Lys378=)
c.910A=
c.3036A= (p.Lys1012=)
c.612A= (p.Lys204=)
n.612A=
c.2850A= (p.Lys950=)
c.2838A= (p.Lys946=)
c.2811A= (p.Lys937=)
n.3389A=
n.3391A=
c.3159A= (p.Lys1053=)
c.2928A= (p.Lys976=)
n.3174A=
11g.77182115A>CCA224841778MYO7Ac.3069A>C (p.Lys1023Asn)
c.1134A>C (p.Lys378Asn)
c.910A>C
c.3036A>C (p.Lys1012Asn)
c.612A>C (p.Lys204Asn)
n.612A>C
c.2850A>C (p.Lys950Asn)
c.2838A>C (p.Lys946Asn)
c.2811A>C (p.Lys937Asn)
n.3389A>C
n.3391A>C
c.3159A>C (p.Lys1053Asn)
c.2928A>C (p.Lys976Asn)
n.3174A>C
 dbSNP gnomAD v4
11g.77182115A>GCA2550930598MYO7Ac.3069A>G (p.Lys1023=)
c.1134A>G (p.Lys378=)
c.910A>G
c.3036A>G (p.Lys1012=)
c.612A>G (p.Lys204=)
n.612A>G
c.2850A>G (p.Lys950=)
c.2838A>G (p.Lys946=)
c.2811A>G (p.Lys937=)
n.3389A>G
n.3391A>G
c.3159A>G (p.Lys1053=)
c.2928A>G (p.Lys976=)
n.3174A>G
11g.77182115A>TCA381944235MYO7Ac.3069A>T (p.Lys1023Asn)
c.1134A>T (p.Lys378Asn)
c.910A>T
c.3036A>T (p.Lys1012Asn)
c.612A>T (p.Lys204Asn)
n.612A>T
c.2850A>T (p.Lys950Asn)
c.2838A>T (p.Lys946Asn)
c.2811A>T (p.Lys937Asn)
n.3389A>T
n.3391A>T
c.3159A>T (p.Lys1053Asn)
c.2928A>T (p.Lys976Asn)
n.3174A>T
11g.77182116C>ACA381944236MYO7Ac.3070C>A (p.Gln1024Lys)
c.1135C>A (p.Gln379Lys)
c.911C>A
c.3037C>A (p.Gln1013Lys)
c.613C>A (p.Gln205Lys)
n.613C>A
c.2851C>A (p.Gln951Lys)
c.2839C>A (p.Gln947Lys)
c.2812C>A (p.Gln938Lys)
n.3390C>A
n.3392C>A
c.3160C>A (p.Gln1054Lys)
c.2929C>A (p.Gln977Lys)
n.3175C>A
11g.77182116C>GCA381944237MYO7Ac.3070C>G (p.Gln1024Glu)
c.1135C>G (p.Gln379Glu)
c.911C>G
c.3037C>G (p.Gln1013Glu)
c.613C>G (p.Gln205Glu)
n.613C>G
c.2851C>G (p.Gln951Glu)
c.2839C>G (p.Gln947Glu)
c.2812C>G (p.Gln938Glu)
n.3390C>G
n.3392C>G
c.3160C>G (p.Gln1054Glu)
c.2929C>G (p.Gln977Glu)
n.3175C>G
11g.77182116C>TCA381944238MYO7Ac.3070C>T (p.Gln1024Ter)
c.1135C>T (p.Gln379Ter)
c.911C>T
c.3037C>T (p.Gln1013Ter)
c.613C>T (p.Gln205Ter)
n.613C>T
c.2851C>T (p.Gln951Ter)
c.2839C>T (p.Gln947Ter)
c.2812C>T (p.Gln938Ter)
n.3390C>T
n.3392C>T
c.3160C>T (p.Gln1054Ter)
c.2929C>T (p.Gln977Ter)
n.3175C>T
11g.77182116dupCA224841781MYO7Ac.3070dup (p.Gln1024ProfsTer7)
c.1135dup (p.Gln379ProfsTer7)
c.911dup
c.3037dup (p.Gln1013ProfsTer7)
c.613dup (p.Gln205ProfsTer7)
n.613dup
c.2851dup (p.Gln951ProfsTer7)
c.2839dup (p.Gln947ProfsTer7)
c.2812dup (p.Gln938ProfsTer7)
n.3390dup
n.3392dup
c.3160dup (p.Gln1054ProfsTer7)
c.2929dup (p.Gln977ProfsTer7)
n.3175dup
 dbSNP
11g.77182117A>CCA381944240MYO7Ac.3071A>C (p.Gln1024Pro)
c.1136A>C (p.Gln379Pro)
c.912A>C
c.3038A>C (p.Gln1013Pro)
c.614A>C (p.Gln205Pro)
n.614A>C
c.2852A>C (p.Gln951Pro)
c.2840A>C (p.Gln947Pro)
c.2813A>C (p.Gln938Pro)
n.3391A>C
n.3393A>C
c.3161A>C (p.Gln1054Pro)
c.2930A>C (p.Gln977Pro)
n.3176A>C
11g.77182117A>GCA381944241MYO7Ac.3071A>G (p.Gln1024Arg)
c.1136A>G (p.Gln379Arg)
c.912A>G
c.3038A>G (p.Gln1013Arg)
c.614A>G (p.Gln205Arg)
n.614A>G
c.2852A>G (p.Gln951Arg)
c.2840A>G (p.Gln947Arg)
c.2813A>G (p.Gln938Arg)
n.3391A>G
n.3393A>G
c.3161A>G (p.Gln1054Arg)
c.2930A>G (p.Gln977Arg)
n.3176A>G
11g.77182117A>TCA381944239MYO7Ac.3071A>T (p.Gln1024Leu)
c.1136A>T (p.Gln379Leu)
c.912A>T
c.3038A>T (p.Gln1013Leu)
c.614A>T (p.Gln205Leu)
n.614A>T
c.2852A>T (p.Gln951Leu)
c.2840A>T (p.Gln947Leu)
c.2813A>T (p.Gln938Leu)
n.3391A>T
n.3393A>T
c.3161A>T (p.Gln1054Leu)
c.2930A>T (p.Gln977Leu)
n.3176A>T
11g.77182118G>CCA381944243MYO7Ac.3072G>C (p.Gln1024His)
c.1137G>C (p.Gln379His)
c.913G>C
c.3039G>C (p.Gln1013His)
c.615G>C (p.Gln205His)
n.615G>C
c.2853G>C (p.Gln951His)
c.2841G>C (p.Gln947His)
c.2814G>C (p.Gln938His)
n.3392G>C
n.3394G>C
c.3162G>C (p.Gln1054His)
c.2931G>C (p.Gln977His)
n.3177G>C
11g.77182118G>TCA381944242MYO7Ac.3072G>T (p.Gln1024His)
c.1137G>T (p.Gln379His)
c.913G>T
c.3039G>T (p.Gln1013His)
c.615G>T (p.Gln205His)
n.615G>T
c.2853G>T (p.Gln951His)
c.2841G>T (p.Gln947His)
c.2814G>T (p.Gln938His)
n.3392G>T
n.3394G>T
c.3162G>T (p.Gln1054His)
c.2931G>T (p.Gln977His)
n.3177G>T
11g.77182119C>ACA381944244MYO7Ac.3073C>A (p.Pro1025Thr)
c.1138C>A (p.Pro380Thr)
c.914C>A
c.3040C>A (p.Pro1014Thr)
c.616C>A (p.Pro206Thr)
n.616C>A
c.2854C>A (p.Pro952Thr)
c.2842C>A (p.Pro948Thr)
c.2815C>A (p.Pro939Thr)
n.3393C>A
n.3395C>A
c.3163C>A (p.Pro1055Thr)
c.2932C>A (p.Pro978Thr)
n.3178C>A
11g.77182119C>GCA381944245MYO7Ac.3073C>G (p.Pro1025Ala)
c.1138C>G (p.Pro380Ala)
c.914C>G
c.3040C>G (p.Pro1014Ala)
c.616C>G (p.Pro206Ala)
n.616C>G
c.2854C>G (p.Pro952Ala)
c.2842C>G (p.Pro948Ala)
c.2815C>G (p.Pro939Ala)
n.3393C>G
n.3395C>G
c.3163C>G (p.Pro1055Ala)
c.2932C>G (p.Pro978Ala)
n.3178C>G
11g.77182119C>TCA381944246MYO7Ac.3073C>T (p.Pro1025Ser)
c.1138C>T (p.Pro380Ser)
c.914C>T
c.3040C>T (p.Pro1014Ser)
c.616C>T (p.Pro206Ser)
n.616C>T
c.2854C>T (p.Pro952Ser)
c.2842C>T (p.Pro948Ser)
c.2815C>T (p.Pro939Ser)
n.3393C>T
n.3395C>T
c.3163C>T (p.Pro1055Ser)
c.2932C>T (p.Pro978Ser)
n.3178C>T
 gnomAD v4
11g.77182120C>ACA381944247MYO7Ac.3074C>A (p.Pro1025Gln)
c.1139C>A (p.Pro380Gln)
c.915C>A
c.3041C>A (p.Pro1014Gln)
c.617C>A (p.Pro206Gln)
n.617C>A
c.2855C>A (p.Pro952Gln)
c.2843C>A (p.Pro948Gln)
c.2816C>A (p.Pro939Gln)
n.3394C>A
n.3396C>A
c.3164C>A (p.Pro1055Gln)
c.2933C>A (p.Pro978Gln)
n.3179C>A
11g.77182120C>GCA381944249MYO7Ac.3074C>G (p.Pro1025Arg)
c.1139C>G (p.Pro380Arg)
c.915C>G
c.3041C>G (p.Pro1014Arg)
c.617C>G (p.Pro206Arg)
n.617C>G
c.2855C>G (p.Pro952Arg)
c.2843C>G (p.Pro948Arg)
c.2816C>G (p.Pro939Arg)
n.3394C>G
n.3396C>G
c.3164C>G (p.Pro1055Arg)
c.2933C>G (p.Pro978Arg)
n.3179C>G
11g.77182120C>TCA381944250MYO7Ac.3074C>T (p.Pro1025Leu)
c.1139C>T (p.Pro380Leu)
c.915C>T
c.3041C>T (p.Pro1014Leu)
c.617C>T (p.Pro206Leu)
n.617C>T
c.2855C>T (p.Pro952Leu)
c.2843C>T (p.Pro948Leu)
c.2816C>T (p.Pro939Leu)
n.3394C>T
n.3396C>T
c.3164C>T (p.Pro1055Leu)
c.2933C>T (p.Pro978Leu)
n.3179C>T
11g.77182121A=CA1984113502MYO7Ac.3075A= (p.Pro1025=)
c.1140A= (p.Pro380=)
c.916A=
c.3042A= (p.Pro1014=)
c.618A= (p.Pro206=)
n.618A=
c.2856A= (p.Pro952=)
c.2844A= (p.Pro948=)
c.2817A= (p.Pro939=)
n.3395A=
n.3397A=
c.3165A= (p.Pro1055=)
c.2934A= (p.Pro978=)
n.3180A=
11g.77182121A>CCA1984113504MYO7Ac.3075A>C (p.Pro1025=)
c.1140A>C (p.Pro380=)
c.916A>C
c.3042A>C (p.Pro1014=)
c.618A>C (p.Pro206=)
n.618A>C
c.2856A>C (p.Pro952=)
c.2844A>C (p.Pro948=)
c.2817A>C (p.Pro939=)
n.3395A>C
n.3397A>C
c.3165A>C (p.Pro1055=)
c.2934A>C (p.Pro978=)
n.3180A>C
 ClinVar dbSNP
11g.77182122C>ACA381944251MYO7Ac.3076C>A (p.Leu1026Met)
c.1141C>A (p.Leu381Met)
c.917C>A
c.3043C>A (p.Leu1015Met)
c.619C>A (p.Leu207Met)
n.619C>A
c.2857C>A (p.Leu953Met)
c.2845C>A (p.Leu949Met)
c.2818C>A (p.Leu940Met)
n.3396C>A
n.3398C>A
c.3166C>A (p.Leu1056Met)
c.2935C>A (p.Leu979Met)
n.3181C>A
11g.77182122C>GCA381944252MYO7Ac.3076C>G (p.Leu1026Val)
c.1141C>G (p.Leu381Val)
c.917C>G
c.3043C>G (p.Leu1015Val)
c.619C>G (p.Leu207Val)
n.619C>G
c.2857C>G (p.Leu953Val)
c.2845C>G (p.Leu949Val)
c.2818C>G (p.Leu940Val)
n.3396C>G
n.3398C>G
c.3166C>G (p.Leu1056Val)
c.2935C>G (p.Leu979Val)
n.3181C>G
11g.77182123T>ACA381944253MYO7Ac.3077T>A (p.Leu1026Gln)
c.1142T>A (p.Leu381Gln)
c.918T>A
c.3044T>A (p.Leu1015Gln)
c.620T>A (p.Leu207Gln)
n.620T>A
c.2858T>A (p.Leu953Gln)
c.2846T>A (p.Leu949Gln)
c.2819T>A (p.Leu940Gln)
n.3397T>A
n.3399T>A
c.3167T>A (p.Leu1056Gln)
c.2936T>A (p.Leu979Gln)
n.3182T>A
11g.77182123T>CCA381944254MYO7Ac.3077T>C (p.Leu1026Pro)
c.1142T>C (p.Leu381Pro)
c.918T>C
c.3044T>C (p.Leu1015Pro)
c.620T>C (p.Leu207Pro)
n.620T>C
c.2858T>C (p.Leu953Pro)
c.2846T>C (p.Leu949Pro)
c.2819T>C (p.Leu940Pro)
n.3397T>C
n.3399T>C
c.3167T>C (p.Leu1056Pro)
c.2936T>C (p.Leu979Pro)
n.3182T>C
11g.77182123T>GCA381944255MYO7Ac.3077T>G (p.Leu1026Arg)
c.1142T>G (p.Leu381Arg)
c.918T>G
c.3044T>G (p.Leu1015Arg)
c.620T>G (p.Leu207Arg)
n.620T>G
c.2858T>G (p.Leu953Arg)
c.2846T>G (p.Leu949Arg)
c.2819T>G (p.Leu940Arg)
n.3397T>G
n.3399T>G
c.3167T>G (p.Leu1056Arg)
c.2936T>G (p.Leu979Arg)
n.3182T>G
11g.77182125C>ACA381944258MYO7Ac.3079C>A (p.Leu1027Ile)
c.1144C>A (p.Leu382Ile)
c.920C>A
c.3046C>A (p.Leu1016Ile)
c.622C>A (p.Leu208Ile)
n.622C>A
c.2860C>A (p.Leu954Ile)
c.2848C>A (p.Leu950Ile)
c.2821C>A (p.Leu941Ile)
n.3399C>A
n.3401C>A
c.3169C>A (p.Leu1057Ile)
c.2938C>A (p.Leu980Ile)
n.3184C>A
11g.77182125C>GCA381944256MYO7Ac.3079C>G (p.Leu1027Val)
c.1144C>G (p.Leu382Val)
c.920C>G
c.3046C>G (p.Leu1016Val)
c.622C>G (p.Leu208Val)
n.622C>G
c.2860C>G (p.Leu954Val)
c.2848C>G (p.Leu950Val)
c.2821C>G (p.Leu941Val)
n.3399C>G
n.3401C>G
c.3169C>G (p.Leu1057Val)
c.2938C>G (p.Leu980Val)
n.3184C>G
11g.77182125C>TCA381944257MYO7Ac.3079C>T (p.Leu1027Phe)
c.1144C>T (p.Leu382Phe)
c.920C>T
c.3046C>T (p.Leu1016Phe)
c.622C>T (p.Leu208Phe)
n.622C>T
c.2860C>T (p.Leu954Phe)
c.2848C>T (p.Leu950Phe)
c.2821C>T (p.Leu941Phe)
n.3399C>T
n.3401C>T
c.3169C>T (p.Leu1057Phe)
c.2938C>T (p.Leu980Phe)
n.3184C>T
 gnomAD v4
11g.77182126T>ACA381944261MYO7Ac.3080T>A (p.Leu1027His)
c.1145T>A (p.Leu382His)
c.921T>A
c.3047T>A (p.Leu1016His)
c.623T>A (p.Leu208His)
n.623T>A
c.2861T>A (p.Leu954His)
c.2849T>A (p.Leu950His)
c.2822T>A (p.Leu941His)
n.3400T>A
n.3402T>A
c.3170T>A (p.Leu1057His)
c.2939T>A (p.Leu980His)
n.3185T>A
11g.77182126T>CCA381944263MYO7Ac.3080T>C (p.Leu1027Pro)
c.1145T>C (p.Leu382Pro)
c.921T>C
c.3047T>C (p.Leu1016Pro)
c.623T>C (p.Leu208Pro)
n.623T>C
c.2861T>C (p.Leu954Pro)
c.2849T>C (p.Leu950Pro)
c.2822T>C (p.Leu941Pro)
n.3400T>C
n.3402T>C
c.3170T>C (p.Leu1057Pro)
c.2939T>C (p.Leu980Pro)
n.3185T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77182126T>GCA381944264MYO7Ac.3080T>G (p.Leu1027Arg)
c.1145T>G (p.Leu382Arg)
c.921T>G
c.3047T>G (p.Leu1016Arg)
c.623T>G (p.Leu208Arg)
n.623T>G
c.2861T>G (p.Leu954Arg)
c.2849T>G (p.Leu950Arg)
c.2822T>G (p.Leu941Arg)
n.3400T>G
n.3402T>G
c.3170T>G (p.Leu1057Arg)
c.2939T>G (p.Leu980Arg)
n.3185T>G
11g.77182127C=CA1984113505MYO7Ac.3081C= (p.Leu1027=)
c.1146C= (p.Leu382=)
c.922C=
c.3048C= (p.Leu1016=)
c.624C= (p.Leu208=)
n.624C=
c.2862C= (p.Leu954=)
c.2850C= (p.Leu950=)
c.2823C= (p.Leu941=)
n.3401C=
n.3403C=
c.3171C= (p.Leu1057=)
c.2940C= (p.Leu980=)
n.3186C=
11g.77182127C>GCA224841784MYO7Ac.3081C>G (p.Leu1027=)
c.1146C>G (p.Leu382=)
c.922C>G
c.3048C>G (p.Leu1016=)
c.624C>G (p.Leu208=)
n.624C>G
c.2862C>G (p.Leu954=)
c.2850C>G (p.Leu950=)
c.2823C>G (p.Leu941=)
n.3401C>G
n.3403C>G
c.3171C>G (p.Leu1057=)
c.2940C>G (p.Leu980=)
n.3186C>G
 ClinVar dbSNP gnomAD v4
11g.77182127C>TCA645585227MYO7Ac.3081C>T (p.Leu1027=)
c.1146C>T (p.Leu382=)
c.922C>T
c.3048C>T (p.Leu1016=)
c.624C>T (p.Leu208=)
n.624C>T
c.2862C>T (p.Leu954=)
c.2850C>T (p.Leu950=)
c.2823C>T (p.Leu941=)
n.3401C>T
n.3403C>T
c.3171C>T (p.Leu1057=)
c.2940C>T (p.Leu980=)
n.3186C>T
 ClinVar COSMIC
11g.77182128T>ACA381944268MYO7Ac.3082T>A (p.Tyr1028Asn)
c.1147T>A (p.Tyr383Asn)
c.923T>A
c.3049T>A (p.Tyr1017Asn)
c.625T>A (p.Tyr209Asn)
n.625T>A
c.2863T>A (p.Tyr955Asn)
c.2851T>A (p.Tyr951Asn)
c.2824T>A (p.Tyr942Asn)
n.3402T>A
n.3404T>A
c.3172T>A (p.Tyr1058Asn)
c.2941T>A (p.Tyr981Asn)
n.3187T>A
11g.77182128T>CCA381944270MYO7Ac.3082T>C (p.Tyr1028His)
c.1147T>C (p.Tyr383His)
c.923T>C
c.3049T>C (p.Tyr1017His)
c.625T>C (p.Tyr209His)
n.625T>C
c.2863T>C (p.Tyr955His)
c.2851T>C (p.Tyr951His)
c.2824T>C (p.Tyr942His)
n.3402T>C
n.3404T>C
c.3172T>C (p.Tyr1058His)
c.2941T>C (p.Tyr981His)
n.3187T>C
 ClinVar
11g.77182128T>GCA381944271MYO7Ac.3082T>G (p.Tyr1028Asp)
c.1147T>G (p.Tyr383Asp)
c.923T>G
c.3049T>G (p.Tyr1017Asp)
c.625T>G (p.Tyr209Asp)
n.625T>G
c.2863T>G (p.Tyr955Asp)
c.2851T>G (p.Tyr951Asp)
c.2824T>G (p.Tyr942Asp)
n.3402T>G
n.3404T>G
c.3172T>G (p.Tyr1058Asp)
c.2941T>G (p.Tyr981Asp)
n.3187T>G
11g.77182129A>CCA381944273MYO7Ac.3083A>C (p.Tyr1028Ser)
c.1148A>C (p.Tyr383Ser)
c.924A>C
c.3050A>C (p.Tyr1017Ser)
c.626A>C (p.Tyr209Ser)
n.626A>C
c.2864A>C (p.Tyr955Ser)
c.2852A>C (p.Tyr951Ser)
c.2825A>C (p.Tyr942Ser)
n.3403A>C
n.3405A>C
c.3173A>C (p.Tyr1058Ser)
c.2942A>C (p.Tyr981Ser)
n.3188A>C
11g.77182129A>GCA381944274MYO7Ac.3083A>G (p.Tyr1028Cys)
c.1148A>G (p.Tyr383Cys)
c.924A>G
c.3050A>G (p.Tyr1017Cys)
c.626A>G (p.Tyr209Cys)
n.626A>G
c.2864A>G (p.Tyr955Cys)
c.2852A>G (p.Tyr951Cys)
c.2825A>G (p.Tyr942Cys)
n.3403A>G
n.3405A>G
c.3173A>G (p.Tyr1058Cys)
c.2942A>G (p.Tyr981Cys)
n.3188A>G
11g.77182129A>TCA381944275MYO7Ac.3083A>T (p.Tyr1028Phe)
c.1148A>T (p.Tyr383Phe)
c.924A>T
c.3050A>T (p.Tyr1017Phe)
c.626A>T (p.Tyr209Phe)
n.626A>T
c.2864A>T (p.Tyr955Phe)
c.2852A>T (p.Tyr951Phe)
c.2825A>T (p.Tyr942Phe)
n.3403A>T
n.3405A>T
c.3173A>T (p.Tyr1058Phe)
c.2942A>T (p.Tyr981Phe)
n.3188A>T
11g.77182130C>ACA381944277MYO7Ac.3084C>A (p.Tyr1028Ter)
c.1149C>A (p.Tyr383Ter)
c.925C>A
c.3051C>A (p.Tyr1017Ter)
c.627C>A (p.Tyr209Ter)
n.627C>A
c.2865C>A (p.Tyr955Ter)
c.2853C>A (p.Tyr951Ter)
c.2826C>A (p.Tyr942Ter)
n.3404C>A
n.3406C>A
c.3174C>A (p.Tyr1058Ter)
c.2943C>A (p.Tyr981Ter)
n.3189C>A
 ClinVar dbSNP
11g.77182130C=CA1984113511MYO7Ac.3084C= (p.Tyr1028=)
c.1149C= (p.Tyr383=)
c.925C=
c.3051C= (p.Tyr1017=)
c.627C= (p.Tyr209=)
n.627C=
c.2865C= (p.Tyr955=)
c.2853C= (p.Tyr951=)
c.2826C= (p.Tyr942=)
n.3404C=
n.3406C=
c.3174C= (p.Tyr1058=)
c.2943C= (p.Tyr981=)
n.3189C=
11g.77182130C>GCA381944279MYO7Ac.3084C>G (p.Tyr1028Ter)
c.1149C>G (p.Tyr383Ter)
c.925C>G
c.3051C>G (p.Tyr1017Ter)
c.627C>G (p.Tyr209Ter)
n.627C>G
c.2865C>G (p.Tyr955Ter)
c.2853C>G (p.Tyr951Ter)
c.2826C>G (p.Tyr942Ter)
n.3404C>G
n.3406C>G
c.3174C>G (p.Tyr1058Ter)
c.2943C>G (p.Tyr981Ter)
n.3189C>G
11g.77182130C>TCA2538090690MYO7Ac.3084C>T (p.Tyr1028=)
c.1149C>T (p.Tyr383=)
c.925C>T
c.3051C>T (p.Tyr1017=)
c.627C>T (p.Tyr209=)
n.627C>T
c.2865C>T (p.Tyr955=)
c.2853C>T (p.Tyr951=)
c.2826C>T (p.Tyr942=)
n.3404C>T
n.3406C>T
c.3174C>T (p.Tyr1058=)
c.2943C>T (p.Tyr981=)
n.3189C>T
11g.77182131C>ACA381944283MYO7Ac.3085C>A (p.His1029Asn)
c.1150C>A (p.His384Asn)
c.926C>A
c.3052C>A (p.His1018Asn)
c.628C>A (p.His210Asn)
n.628C>A
c.2866C>A (p.His956Asn)
c.2854C>A (p.His952Asn)
c.2827C>A (p.His943Asn)
n.3405C>A
n.3407C>A
c.3175C>A (p.His1059Asn)
c.2944C>A (p.His982Asn)
n.3190C>A
11g.77182131C>GCA381944284MYO7Ac.3085C>G (p.His1029Asp)
c.1150C>G (p.His384Asp)
c.926C>G
c.3052C>G (p.His1018Asp)
c.628C>G (p.His210Asp)
n.628C>G
c.2866C>G (p.His956Asp)
c.2854C>G (p.His952Asp)
c.2827C>G (p.His943Asp)
n.3405C>G
n.3407C>G
c.3175C>G (p.His1059Asp)
c.2944C>G (p.His982Asp)
n.3190C>G
11g.77182131C>TCA381944281MYO7Ac.3085C>T (p.His1029Tyr)
c.1150C>T (p.His384Tyr)
c.926C>T
c.3052C>T (p.His1018Tyr)
c.628C>T (p.His210Tyr)
n.628C>T
c.2866C>T (p.His956Tyr)
c.2854C>T (p.His952Tyr)
c.2827C>T (p.His943Tyr)
n.3405C>T
n.3407C>T
c.3175C>T (p.His1059Tyr)
c.2944C>T (p.His982Tyr)
n.3190C>T
11g.77182132A=CA1984113519MYO7Ac.3086A= (p.His1029=)
c.1151A= (p.His384=)
c.927A=
c.3053A= (p.His1018=)
c.629A= (p.His210=)
n.629A=
c.2867A= (p.His956=)
c.2855A= (p.His952=)
c.2828A= (p.His943=)
n.3406A=
n.3408A=
c.3176A= (p.His1059=)
c.2945A= (p.His982=)
n.3191A=
11g.77182132A>CCA381944286MYO7Ac.3086A>C (p.His1029Pro)
c.1151A>C (p.His384Pro)
c.927A>C
c.3053A>C (p.His1018Pro)
c.629A>C (p.His210Pro)
n.629A>C
c.2867A>C (p.His956Pro)
c.2855A>C (p.His952Pro)
c.2828A>C (p.His943Pro)
n.3406A>C
n.3408A>C
c.3176A>C (p.His1059Pro)
c.2945A>C (p.His982Pro)
n.3191A>C
11g.77182132A>GCA182416MYO7Ac.3086A>G (p.His1029Arg)
c.1151A>G (p.His384Arg)
c.927A>G
c.3053A>G (p.His1018Arg)
c.629A>G (p.His210Arg)
n.629A>G
c.2867A>G (p.His956Arg)
c.2855A>G (p.His952Arg)
c.2828A>G (p.His943Arg)
n.3406A>G
n.3408A>G
c.3176A>G (p.His1059Arg)
c.2945A>G (p.His982Arg)
n.3191A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77182132A>TCA381944289MYO7Ac.3086A>T (p.His1029Leu)
c.1151A>T (p.His384Leu)
c.927A>T
c.3053A>T (p.His1018Leu)
c.629A>T (p.His210Leu)
n.629A>T
c.2867A>T (p.His956Leu)
c.2855A>T (p.His952Leu)
c.2828A>T (p.His943Leu)
n.3406A>T
n.3408A>T
c.3176A>T (p.His1059Leu)
c.2945A>T (p.His982Leu)
n.3191A>T
11g.77182133T>ACA381944291MYO7Ac.3087T>A (p.His1029Gln)
c.1152T>A (p.His384Gln)
c.928T>A
c.3054T>A (p.His1018Gln)
c.630T>A (p.His210Gln)
n.630T>A
c.2868T>A (p.His956Gln)
c.2856T>A (p.His952Gln)
c.2829T>A (p.His943Gln)
n.3407T>A
n.3409T>A
c.3177T>A (p.His1059Gln)
c.2946T>A (p.His982Gln)
n.3192T>A
11g.77182133T>CCA224841788MYO7Ac.3087T>C (p.His1029=)
c.1152T>C (p.His384=)
c.928T>C
c.3054T>C (p.His1018=)
c.630T>C (p.His210=)
n.630T>C
c.2868T>C (p.His956=)
c.2856T>C (p.His952=)
c.2829T>C (p.His943=)
n.3407T>C
n.3409T>C
c.3177T>C (p.His1059=)
c.2946T>C (p.His982=)
n.3192T>C
 ClinVar dbSNP gnomAD v4
11g.77182133T>GCA381944294MYO7Ac.3087T>G (p.His1029Gln)
c.1152T>G (p.His384Gln)
c.928T>G
c.3054T>G (p.His1018Gln)
c.630T>G (p.His210Gln)
n.630T>G
c.2868T>G (p.His956Gln)
c.2856T>G (p.His952Gln)
c.2829T>G (p.His943Gln)
n.3407T>G
n.3409T>G
c.3177T>G (p.His1059Gln)
c.2946T>G (p.His982Gln)
n.3192T>G
 gnomAD v4
11g.77182133T=CA1984113526MYO7Ac.3087T= (p.His1029=)
c.1152T= (p.His384=)
c.928T=
c.3054T= (p.His1018=)
c.630T= (p.His210=)
n.630T=
c.2868T= (p.His956=)
c.2856T= (p.His952=)
c.2829T= (p.His943=)
n.3407T=
n.3409T=
c.3177T= (p.His1059=)
c.2946T= (p.His982=)
n.3192T=
11g.77182133_77182136delinsTGACCA1984113528MYO7Ac.3087_3090delinsTGAC (p.His1029=)
c.1152_1155delinsTGAC (p.His384=)
c.928_931delinsTGAC
c.3054_3057delinsTGAC (p.His1018=)
c.630_633delinsTGAC (p.His210=)
n.630_633delinsTGAC
c.2868_2871delinsTGAC (p.His956=)
c.2856_2859delinsTGAC (p.His952=)
c.2829_2832delinsTGAC (p.His943=)
n.3407_3410delinsTGAC
n.3409_3412delinsTGAC
c.3177_3180delinsTGAC (p.His1059=)
c.2946_2949delinsTGAC (p.His982=)
n.3192_3195delinsTGAC
11g.77182134G>ACA224841791MYO7Ac.3088G>A (p.Asp1030Asn)
c.1153G>A (p.Asp385Asn)
c.929G>A
c.3055G>A (p.Asp1019Asn)
c.631G>A (p.Asp211Asn)
n.631G>A
c.2869G>A (p.Asp957Asn)
c.2857G>A (p.Asp953Asn)
c.2830G>A (p.Asp944Asn)
n.3408G>A
n.3410G>A
c.3178G>A (p.Asp1060Asn)
c.2947G>A (p.Asp983Asn)
n.3193G>A
 dbSNP gnomAD v4
11g.77182134G>CCA381944296MYO7Ac.3088G>C (p.Asp1030His)
c.1153G>C (p.Asp385His)
c.929G>C
c.3055G>C (p.Asp1019His)
c.631G>C (p.Asp211His)
n.631G>C
c.2869G>C (p.Asp957His)
c.2857G>C (p.Asp953His)
c.2830G>C (p.Asp944His)
n.3408G>C
n.3410G>C
c.3178G>C (p.Asp1060His)
c.2947G>C (p.Asp983His)
n.3193G>C
11g.77182134G=CA1984113533MYO7Ac.3088G= (p.Asp1030=)
c.1153G= (p.Asp385=)
c.929G=
c.3055G= (p.Asp1019=)
c.631G= (p.Asp211=)
n.631G=
c.2869G= (p.Asp957=)
c.2857G= (p.Asp953=)
c.2830G= (p.Asp944=)
n.3408G=
n.3410G=
c.3178G= (p.Asp1060=)
c.2947G= (p.Asp983=)
n.3193G=
11g.77182134G>TCA381944299MYO7Ac.3088G>T (p.Asp1030Tyr)
c.1153G>T (p.Asp385Tyr)
c.929G>T
c.3055G>T (p.Asp1019Tyr)
c.631G>T (p.Asp211Tyr)
n.631G>T
c.2869G>T (p.Asp957Tyr)
c.2857G>T (p.Asp953Tyr)
c.2830G>T (p.Asp944Tyr)
n.3408G>T
n.3410G>T
c.3178G>T (p.Asp1060Tyr)
c.2947G>T (p.Asp983Tyr)
n.3193G>T
11g.77182139_77182141delCA918918632MYO7Ac.3093_3095del (p.Asp1031del)
c.1158_1160del (p.Asp386del)
c.934_936del
c.3060_3062del (p.Asp1020del)
c.636_638del (p.Asp212del)
n.636_638del
c.2874_2876del (p.Asp958del)
c.2862_2864del (p.Asp954del)
c.2835_2837del (p.Asp945del)
n.3413_3415del
n.3415_3417del
c.3183_3185del (p.Asp1061del)
c.2952_2954del (p.Asp984del)
n.3198_3200del
 dbSNP

Number of alleles fetched