Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
11g.77182135A>CCA381944302MYO7Ac.3089A>C (p.Asp1030Ala)
c.1154A>C (p.Asp385Ala)
c.930A>C
c.3056A>C (p.Asp1019Ala)
c.632A>C (p.Asp211Ala)
n.632A>C
c.2870A>C (p.Asp957Ala)
c.2858A>C (p.Asp953Ala)
c.2831A>C (p.Asp944Ala)
n.3409A>C
n.3411A>C
c.3179A>C (p.Asp1060Ala)
c.2948A>C (p.Asp983Ala)
n.3194A>C
11g.77182135A>GCA381944304MYO7Ac.3089A>G (p.Asp1030Gly)
c.1154A>G (p.Asp385Gly)
c.930A>G
c.3056A>G (p.Asp1019Gly)
c.632A>G (p.Asp211Gly)
n.632A>G
c.2870A>G (p.Asp957Gly)
c.2858A>G (p.Asp953Gly)
c.2831A>G (p.Asp944Gly)
n.3409A>G
n.3411A>G
c.3179A>G (p.Asp1060Gly)
c.2948A>G (p.Asp983Gly)
n.3194A>G
11g.77182135A>TCA381944305MYO7Ac.3089A>T (p.Asp1030Val)
c.1154A>T (p.Asp385Val)
c.930A>T
c.3056A>T (p.Asp1019Val)
c.632A>T (p.Asp211Val)
n.632A>T
c.2870A>T (p.Asp957Val)
c.2858A>T (p.Asp953Val)
c.2831A>T (p.Asp944Val)
n.3409A>T
n.3411A>T
c.3179A>T (p.Asp1060Val)
c.2948A>T (p.Asp983Val)
n.3194A>T
11g.77182136C>ACA381944308MYO7Ac.3090C>A (p.Asp1030Glu)
c.1155C>A (p.Asp385Glu)
c.931C>A
c.3057C>A (p.Asp1019Glu)
c.633C>A (p.Asp211Glu)
n.633C>A
c.2871C>A (p.Asp957Glu)
c.2859C>A (p.Asp953Glu)
c.2832C>A (p.Asp944Glu)
n.3410C>A
n.3412C>A
c.3180C>A (p.Asp1060Glu)
c.2949C>A (p.Asp983Glu)
n.3195C>A
 ClinVar dbSNP gnomAD v4
11g.77182136C=CA1984113540MYO7Ac.3090C= (p.Asp1030=)
c.1155C= (p.Asp385=)
c.931C=
c.3057C= (p.Asp1019=)
c.633C= (p.Asp211=)
n.633C=
c.2871C= (p.Asp957=)
c.2859C= (p.Asp953=)
c.2832C= (p.Asp944=)
n.3410C=
n.3412C=
c.3180C= (p.Asp1060=)
c.2949C= (p.Asp983=)
n.3195C=
11g.77182136C>GCA381944310MYO7Ac.3090C>G (p.Asp1030Glu)
c.1155C>G (p.Asp385Glu)
c.931C>G
c.3057C>G (p.Asp1019Glu)
c.633C>G (p.Asp211Glu)
n.633C>G
c.2871C>G (p.Asp957Glu)
c.2859C>G (p.Asp953Glu)
c.2832C>G (p.Asp944Glu)
n.3410C>G
n.3412C>G
c.3180C>G (p.Asp1060Glu)
c.2949C>G (p.Asp983Glu)
n.3195C>G
 gnomAD v4
11g.77182136C>TCA224841793MYO7Ac.3090C>T (p.Asp1030=)
c.1155C>T (p.Asp385=)
c.931C>T
c.3057C>T (p.Asp1019=)
c.633C>T (p.Asp211=)
n.633C>T
c.2871C>T (p.Asp957=)
c.2859C>T (p.Asp953=)
c.2832C>T (p.Asp944=)
n.3410C>T
n.3412C>T
c.3180C>T (p.Asp1060=)
c.2949C>T (p.Asp983=)
n.3195C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77182136_77182137insACTCA2792786521MYO7Ac.3090_3091insACT (p.Asp1030_Asp1031insThr)
c.1155_1156insACT (p.Asp385_Asp386insThr)
c.931_932insACT
c.3057_3058insACT (p.Asp1019_Asp1020insThr)
c.633_634insACT (p.Asp211_Asp212insThr)
n.633_634insACT
c.2871_2872insACT (p.Asp957_Asp958insThr)
c.2859_2860insACT (p.Asp953_Asp954insThr)
c.2832_2833insACT (p.Asp944_Asp945insThr)
n.3410_3411insACT
n.3412_3413insACT
c.3180_3181insACT (p.Asp1060_Asp1061insThr)
c.2949_2950insACT (p.Asp983_Asp984insThr)
n.3195_3196insACT
11g.77182137G>ACA224841796MYO7Ac.3091G>A (p.Asp1031Asn)
c.1156G>A (p.Asp386Asn)
c.932G>A
c.3058G>A (p.Asp1020Asn)
c.634G>A (p.Asp212Asn)
n.634G>A
c.2872G>A (p.Asp958Asn)
c.2860G>A (p.Asp954Asn)
c.2833G>A (p.Asp945Asn)
n.3411G>A
n.3413G>A
c.3181G>A (p.Asp1061Asn)
c.2950G>A (p.Asp984Asn)
n.3196G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.77182137G>CCA381944316MYO7Ac.3091G>C (p.Asp1031His)
c.1156G>C (p.Asp386His)
c.932G>C
c.3058G>C (p.Asp1020His)
c.634G>C (p.Asp212His)
n.634G>C
c.2872G>C (p.Asp958His)
c.2860G>C (p.Asp954His)
c.2833G>C (p.Asp945His)
n.3411G>C
n.3413G>C
c.3181G>C (p.Asp1061His)
c.2950G>C (p.Asp984His)
n.3196G>C
11g.77182137G=CA1984113546MYO7Ac.3091G= (p.Asp1031=)
c.1156G= (p.Asp386=)
c.932G=
c.3058G= (p.Asp1020=)
c.634G= (p.Asp212=)
n.634G=
c.2872G= (p.Asp958=)
c.2860G= (p.Asp954=)
c.2833G= (p.Asp945=)
n.3411G=
n.3413G=
c.3181G= (p.Asp1061=)
c.2950G= (p.Asp984=)
n.3196G=
11g.77182137G>TCA381944314MYO7Ac.3091G>T (p.Asp1031Tyr)
c.1156G>T (p.Asp386Tyr)
c.932G>T
c.3058G>T (p.Asp1020Tyr)
c.634G>T (p.Asp212Tyr)
n.634G>T
c.2872G>T (p.Asp958Tyr)
c.2860G>T (p.Asp954Tyr)
c.2833G>T (p.Asp945Tyr)
n.3411G>T
n.3413G>T
c.3181G>T (p.Asp1061Tyr)
c.2950G>T (p.Asp984Tyr)
n.3196G>T
11g.77182138A>CCA381944318MYO7Ac.3092A>C (p.Asp1031Ala)
c.1157A>C (p.Asp386Ala)
c.933A>C
c.3059A>C (p.Asp1020Ala)
c.635A>C (p.Asp212Ala)
n.635A>C
c.2873A>C (p.Asp958Ala)
c.2861A>C (p.Asp954Ala)
c.2834A>C (p.Asp945Ala)
n.3412A>C
n.3414A>C
c.3182A>C (p.Asp1061Ala)
c.2951A>C (p.Asp984Ala)
n.3197A>C
11g.77182138A>GCA381944320MYO7Ac.3092A>G (p.Asp1031Gly)
c.1157A>G (p.Asp386Gly)
c.933A>G
c.3059A>G (p.Asp1020Gly)
c.635A>G (p.Asp212Gly)
n.635A>G
c.2873A>G (p.Asp958Gly)
c.2861A>G (p.Asp954Gly)
c.2834A>G (p.Asp945Gly)
n.3412A>G
n.3414A>G
c.3182A>G (p.Asp1061Gly)
c.2951A>G (p.Asp984Gly)
n.3197A>G
11g.77182138A>TCA381944321MYO7Ac.3092A>T (p.Asp1031Val)
c.1157A>T (p.Asp386Val)
c.933A>T
c.3059A>T (p.Asp1020Val)
c.635A>T (p.Asp212Val)
n.635A>T
c.2873A>T (p.Asp958Val)
c.2861A>T (p.Asp954Val)
c.2834A>T (p.Asp945Val)
n.3412A>T
n.3414A>T
c.3182A>T (p.Asp1061Val)
c.2951A>T (p.Asp984Val)
n.3197A>T
11g.77182139C>ACA381944323MYO7Ac.3093C>A (p.Asp1031Glu)
c.1158C>A (p.Asp386Glu)
c.934C>A
c.3060C>A (p.Asp1020Glu)
c.636C>A (p.Asp212Glu)
n.636C>A
c.2874C>A (p.Asp958Glu)
c.2862C>A (p.Asp954Glu)
c.2835C>A (p.Asp945Glu)
n.3413C>A
n.3415C>A
c.3183C>A (p.Asp1061Glu)
c.2952C>A (p.Asp984Glu)
n.3198C>A
11g.77182139C=CA1984113549MYO7Ac.3093C= (p.Asp1031=)
c.1158C= (p.Asp386=)
c.934C=
c.3060C= (p.Asp1020=)
c.636C= (p.Asp212=)
n.636C=
c.2874C= (p.Asp958=)
c.2862C= (p.Asp954=)
c.2835C= (p.Asp945=)
n.3413C=
n.3415C=
c.3183C= (p.Asp1061=)
c.2952C= (p.Asp984=)
n.3198C=
11g.77182139C>GCA381944325MYO7Ac.3093C>G (p.Asp1031Glu)
c.1158C>G (p.Asp386Glu)
c.934C>G
c.3060C>G (p.Asp1020Glu)
c.636C>G (p.Asp212Glu)
n.636C>G
c.2874C>G (p.Asp958Glu)
c.2862C>G (p.Asp954Glu)
c.2835C>G (p.Asp945Glu)
n.3413C>G
n.3415C>G
c.3183C>G (p.Asp1061Glu)
c.2952C>G (p.Asp984Glu)
n.3198C>G
11g.77182139C>TCA224841799MYO7Ac.3093C>T (p.Asp1031=)
c.1158C>T (p.Asp386=)
c.934C>T
c.3060C>T (p.Asp1020=)
c.636C>T (p.Asp212=)
n.636C>T
c.2874C>T (p.Asp958=)
c.2862C>T (p.Asp954=)
c.2835C>T (p.Asp945=)
n.3413C>T
n.3415C>T
c.3183C>T (p.Asp1061=)
c.2952C>T (p.Asp984=)
n.3198C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.77182140G>ACA381944328MYO7Ac.3094G>A (p.Glu1032Lys)
c.1159G>A (p.Glu387Lys)
c.935G>A
c.3061G>A (p.Glu1021Lys)
c.637G>A (p.Glu213Lys)
n.637G>A
c.2875G>A (p.Glu959Lys)
c.2863G>A (p.Glu955Lys)
c.2836G>A (p.Glu946Lys)
n.3414G>A
n.3416G>A
c.3184G>A (p.Glu1062Lys)
c.2953G>A (p.Glu985Lys)
n.3199G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77182140G>CCA381944330MYO7Ac.3094G>C (p.Glu1032Gln)
c.1159G>C (p.Glu387Gln)
c.935G>C
c.3061G>C (p.Glu1021Gln)
c.637G>C (p.Glu213Gln)
n.637G>C
c.2875G>C (p.Glu959Gln)
c.2863G>C (p.Glu955Gln)
c.2836G>C (p.Glu946Gln)
n.3414G>C
n.3416G>C
c.3184G>C (p.Glu1062Gln)
c.2953G>C (p.Glu985Gln)
n.3199G>C
11g.77182140G=CA1984113554MYO7Ac.3094G= (p.Glu1032=)
c.1159G= (p.Glu387=)
c.935G=
c.3061G= (p.Glu1021=)
c.637G= (p.Glu213=)
n.637G=
c.2875G= (p.Glu959=)
c.2863G= (p.Glu955=)
c.2836G= (p.Glu946=)
n.3414G=
n.3416G=
c.3184G= (p.Glu1062=)
c.2953G= (p.Glu985=)
n.3199G=
11g.77182140G>TCA381944332MYO7Ac.3094G>T (p.Glu1032Ter)
c.1159G>T (p.Glu387Ter)
c.935G>T
c.3061G>T (p.Glu1021Ter)
c.637G>T (p.Glu213Ter)
n.637G>T
c.2875G>T (p.Glu959Ter)
c.2863G>T (p.Glu955Ter)
c.2836G>T (p.Glu946Ter)
n.3414G>T
n.3416G>T
c.3184G>T (p.Glu1062Ter)
c.2953G>T (p.Glu985Ter)
n.3199G>T
 gnomAD v4
11g.77182141A>CCA381944334MYO7Ac.3095A>C (p.Glu1032Ala)
c.1160A>C (p.Glu387Ala)
c.936A>C
c.3062A>C (p.Glu1021Ala)
c.638A>C (p.Glu213Ala)
n.638A>C
c.2876A>C (p.Glu959Ala)
c.2864A>C (p.Glu955Ala)
c.2837A>C (p.Glu946Ala)
n.3415A>C
n.3417A>C
c.3185A>C (p.Glu1062Ala)
c.2954A>C (p.Glu985Ala)
n.3200A>C
11g.77182141A>GCA381944336MYO7Ac.3095A>G (p.Glu1032Gly)
c.1160A>G (p.Glu387Gly)
c.936A>G
c.3062A>G (p.Glu1021Gly)
c.638A>G (p.Glu213Gly)
n.638A>G
c.2876A>G (p.Glu959Gly)
c.2864A>G (p.Glu955Gly)
c.2837A>G (p.Glu946Gly)
n.3415A>G
n.3417A>G
c.3185A>G (p.Glu1062Gly)
c.2954A>G (p.Glu985Gly)
n.3200A>G
11g.77182141A>TCA381944338MYO7Ac.3095A>T (p.Glu1032Val)
c.1160A>T (p.Glu387Val)
c.936A>T
c.3062A>T (p.Glu1021Val)
c.638A>T (p.Glu213Val)
n.638A>T
c.2876A>T (p.Glu959Val)
c.2864A>T (p.Glu955Val)
c.2837A>T (p.Glu946Val)
n.3415A>T
n.3417A>T
c.3185A>T (p.Glu1062Val)
c.2954A>T (p.Glu985Val)
n.3200A>T
11g.77182142G>ACA2574931389MYO7Ac.3096G>A (p.Glu1032=)
c.1161G>A (p.Glu387=)
c.937G>A
c.3063G>A (p.Glu1021=)
c.639G>A (p.Glu213=)
n.639G>A
c.2877G>A (p.Glu959=)
c.2865G>A (p.Glu955=)
c.2838G>A (p.Glu946=)
n.3416G>A
n.3418G>A
c.3186G>A (p.Glu1062=)
c.2955G>A (p.Glu985=)
n.3201G>A
11g.77182142G>CCA381944340MYO7Ac.3096G>C (p.Glu1032Asp)
c.1161G>C (p.Glu387Asp)
c.937G>C
c.3063G>C (p.Glu1021Asp)
c.639G>C (p.Glu213Asp)
n.639G>C
c.2877G>C (p.Glu959Asp)
c.2865G>C (p.Glu955Asp)
c.2838G>C (p.Glu946Asp)
n.3416G>C
n.3418G>C
c.3186G>C (p.Glu1062Asp)
c.2955G>C (p.Glu985Asp)
n.3201G>C
11g.77182142G>TCA381944342MYO7Ac.3096G>T (p.Glu1032Asp)
c.1161G>T (p.Glu387Asp)
c.937G>T
c.3063G>T (p.Glu1021Asp)
c.639G>T (p.Glu213Asp)
n.639G>T
c.2877G>T (p.Glu959Asp)
c.2865G>T (p.Glu955Asp)
c.2838G>T (p.Glu946Asp)
n.3416G>T
n.3418G>T
c.3186G>T (p.Glu1062Asp)
c.2955G>T (p.Glu985Asp)
n.3201G>T
11g.77182144dupCA2580084978MYO7Ac.3098dup (p.Asp1034Ter)
c.1163dup (p.Asp389Ter)
c.939dup
c.3065dup (p.Asp1023Ter)
c.641dup (p.Asp215Ter)
n.641dup
c.2879dup (p.Asp961Ter)
c.2867dup (p.Asp957Ter)
c.2840dup (p.Asp948Ter)
n.3418dup
n.3420dup
c.3188dup (p.Asp1064Ter)
c.2957dup (p.Asp987Ter)
n.3203dup
 ClinVar gnomAD v4
11g.77182143G>ACA381944348MYO7Ac.3097G>A (p.Gly1033Ser)
c.1162G>A (p.Gly388Ser)
c.938G>A
c.3064G>A (p.Gly1022Ser)
c.640G>A (p.Gly214Ser)
n.640G>A
c.2878G>A (p.Gly960Ser)
c.2866G>A (p.Gly956Ser)
c.2839G>A (p.Gly947Ser)
n.3417G>A
n.3419G>A
c.3187G>A (p.Gly1063Ser)
c.2956G>A (p.Gly986Ser)
n.3202G>A
11g.77182143G>CCA381944349MYO7Ac.3097G>C (p.Gly1033Arg)
c.1162G>C (p.Gly388Arg)
c.938G>C
c.3064G>C (p.Gly1022Arg)
c.640G>C (p.Gly214Arg)
n.640G>C
c.2878G>C (p.Gly960Arg)
c.2866G>C (p.Gly956Arg)
c.2839G>C (p.Gly947Arg)
n.3417G>C
n.3419G>C
c.3187G>C (p.Gly1063Arg)
c.2956G>C (p.Gly986Arg)
n.3202G>C
11g.77182143G>TCA381944345MYO7Ac.3097G>T (p.Gly1033Cys)
c.1162G>T (p.Gly388Cys)
c.938G>T
c.3064G>T (p.Gly1022Cys)
c.640G>T (p.Gly214Cys)
n.640G>T
c.2878G>T (p.Gly960Cys)
c.2866G>T (p.Gly956Cys)
c.2839G>T (p.Gly947Cys)
n.3417G>T
n.3419G>T
c.3187G>T (p.Gly1063Cys)
c.2956G>T (p.Gly986Cys)
n.3202G>T
11g.77182144G>ACA224841802MYO7Ac.3098G>A (p.Gly1033Asp)
c.1163G>A (p.Gly388Asp)
c.939G>A
c.3065G>A (p.Gly1022Asp)
c.641G>A (p.Gly214Asp)
n.641G>A
c.2879G>A (p.Gly960Asp)
c.2867G>A (p.Gly956Asp)
c.2840G>A (p.Gly947Asp)
n.3418G>A
n.3420G>A
c.3188G>A (p.Gly1063Asp)
c.2957G>A (p.Gly986Asp)
n.3203G>A
 dbSNP gnomAD v3 gnomAD v4
11g.77182144G>CCA381944350MYO7Ac.3098G>C (p.Gly1033Ala)
c.1163G>C (p.Gly388Ala)
c.939G>C
c.3065G>C (p.Gly1022Ala)
c.641G>C (p.Gly214Ala)
n.641G>C
c.2879G>C (p.Gly960Ala)
c.2867G>C (p.Gly956Ala)
c.2840G>C (p.Gly947Ala)
n.3418G>C
n.3420G>C
c.3188G>C (p.Gly1063Ala)
c.2957G>C (p.Gly986Ala)
n.3203G>C
11g.77182144G=CA1984113555MYO7Ac.3098G= (p.Gly1033=)
c.1163G= (p.Gly388=)
c.939G=
c.3065G= (p.Gly1022=)
c.641G= (p.Gly214=)
n.641G=
c.2879G= (p.Gly960=)
c.2867G= (p.Gly956=)
c.2840G= (p.Gly947=)
n.3418G=
n.3420G=
c.3188G= (p.Gly1063=)
c.2957G= (p.Gly986=)
n.3203G=
11g.77182144G>TCA381944353MYO7Ac.3098G>T (p.Gly1033Val)
c.1163G>T (p.Gly388Val)
c.939G>T
c.3065G>T (p.Gly1022Val)
c.641G>T (p.Gly214Val)
n.641G>T
c.2879G>T (p.Gly960Val)
c.2867G>T (p.Gly956Val)
c.2840G>T (p.Gly947Val)
n.3418G>T
n.3420G>T
c.3188G>T (p.Gly1063Val)
c.2957G>T (p.Gly986Val)
n.3203G>T
11g.77182145T>GCA2499221321MYO7Ac.3099T>G (p.Gly1033=)
c.1164T>G (p.Gly388=)
c.940T>G
c.3066T>G (p.Gly1022=)
c.642T>G (p.Gly214=)
n.642T>G
c.2880T>G (p.Gly960=)
c.2868T>G (p.Gly956=)
c.2841T>G (p.Gly947=)
n.3419T>G
n.3421T>G
c.3189T>G (p.Gly1063=)
c.2958T>G (p.Gly986=)
n.3204T>G
 ClinVar dbSNP gnomAD v4
11g.77182146G>ACA381944355MYO7Ac.3100G>A (p.Asp1034Asn)
c.1165G>A (p.Asp389Asn)
c.941G>A
c.3067G>A (p.Asp1023Asn)
c.643G>A (p.Asp215Asn)
n.643G>A
c.2881G>A (p.Asp961Asn)
c.2869G>A (p.Asp957Asn)
c.2842G>A (p.Asp948Asn)
n.3420G>A
n.3422G>A
c.3190G>A (p.Asp1064Asn)
c.2959G>A (p.Asp987Asn)
n.3205G>A
11g.77182146G>CCA381944358MYO7Ac.3100G>C (p.Asp1034His)
c.1165G>C (p.Asp389His)
c.941G>C
c.3067G>C (p.Asp1023His)
c.643G>C (p.Asp215His)
n.643G>C
c.2881G>C (p.Asp961His)
c.2869G>C (p.Asp957His)
c.2842G>C (p.Asp948His)
n.3420G>C
n.3422G>C
c.3190G>C (p.Asp1064His)
c.2959G>C (p.Asp987His)
n.3205G>C
11g.77182146G>TCA381944356MYO7Ac.3100G>T (p.Asp1034Tyr)
c.1165G>T (p.Asp389Tyr)
c.941G>T
c.3067G>T (p.Asp1023Tyr)
c.643G>T (p.Asp215Tyr)
n.643G>T
c.2881G>T (p.Asp961Tyr)
c.2869G>T (p.Asp957Tyr)
c.2842G>T (p.Asp948Tyr)
n.3420G>T
n.3422G>T
c.3190G>T (p.Asp1064Tyr)
c.2959G>T (p.Asp987Tyr)
n.3205G>T
11g.77182147A>CCA381944360MYO7Ac.3101A>C (p.Asp1034Ala)
c.1166A>C (p.Asp389Ala)
c.942A>C
c.3068A>C (p.Asp1023Ala)
c.644A>C (p.Asp215Ala)
n.644A>C
c.2882A>C (p.Asp961Ala)
c.2870A>C (p.Asp957Ala)
c.2843A>C (p.Asp948Ala)
n.3421A>C
n.3423A>C
c.3191A>C (p.Asp1064Ala)
c.2960A>C (p.Asp987Ala)
n.3206A>C
11g.77182147A>GCA381944363MYO7Ac.3101A>G (p.Asp1034Gly)
c.1166A>G (p.Asp389Gly)
c.942A>G
c.3068A>G (p.Asp1023Gly)
c.644A>G (p.Asp215Gly)
n.644A>G
c.2882A>G (p.Asp961Gly)
c.2870A>G (p.Asp957Gly)
c.2843A>G (p.Asp948Gly)
n.3421A>G
n.3423A>G
c.3191A>G (p.Asp1064Gly)
c.2960A>G (p.Asp987Gly)
n.3206A>G
11g.77182147A>TCA381944362MYO7Ac.3101A>T (p.Asp1034Val)
c.1166A>T (p.Asp389Val)
c.942A>T
c.3068A>T (p.Asp1023Val)
c.644A>T (p.Asp215Val)
n.644A>T
c.2882A>T (p.Asp961Val)
c.2870A>T (p.Asp957Val)
c.2843A>T (p.Asp948Val)
n.3421A>T
n.3423A>T
c.3191A>T (p.Asp1064Val)
c.2960A>T (p.Asp987Val)
n.3206A>T
11g.77182148C>ACA381944364MYO7Ac.3102C>A (p.Asp1034Glu)
c.1167C>A (p.Asp389Glu)
c.943C>A
c.3069C>A (p.Asp1023Glu)
c.645C>A (p.Asp215Glu)
n.645C>A
c.2883C>A (p.Asp961Glu)
c.2871C>A (p.Asp957Glu)
c.2844C>A (p.Asp948Glu)
n.3422C>A
n.3424C>A
c.3192C>A (p.Asp1064Glu)
c.2961C>A (p.Asp987Glu)
n.3207C>A
11g.77182148C>GCA381944366MYO7Ac.3102C>G (p.Asp1034Glu)
c.1167C>G (p.Asp389Glu)
c.943C>G
c.3069C>G (p.Asp1023Glu)
c.645C>G (p.Asp215Glu)
n.645C>G
c.2883C>G (p.Asp961Glu)
c.2871C>G (p.Asp957Glu)
c.2844C>G (p.Asp948Glu)
n.3422C>G
n.3424C>G
c.3192C>G (p.Asp1064Glu)
c.2961C>G (p.Asp987Glu)
n.3207C>G
11g.77182149C>ACA381944368MYO7Ac.3103C>A (p.Gln1035Lys)
c.1168C>A (p.Gln390Lys)
c.944C>A
c.3070C>A (p.Gln1024Lys)
c.646C>A (p.Gln216Lys)
n.646C>A
c.2884C>A (p.Gln962Lys)
c.2872C>A (p.Gln958Lys)
c.2845C>A (p.Gln949Lys)
n.3423C>A
n.3425C>A
c.3193C>A (p.Gln1065Lys)
c.2962C>A (p.Gln988Lys)
n.3208C>A
11g.77182149C>GCA381944370MYO7Ac.3103C>G (p.Gln1035Glu)
c.1168C>G (p.Gln390Glu)
c.944C>G
c.3070C>G (p.Gln1024Glu)
c.646C>G (p.Gln216Glu)
n.646C>G
c.2884C>G (p.Gln962Glu)
c.2872C>G (p.Gln958Glu)
c.2845C>G (p.Gln949Glu)
n.3423C>G
n.3425C>G
c.3193C>G (p.Gln1065Glu)
c.2962C>G (p.Gln988Glu)
n.3208C>G
11g.77182149C>TCA381944372MYO7Ac.3103C>T (p.Gln1035Ter)
c.1168C>T (p.Gln390Ter)
c.944C>T
c.3070C>T (p.Gln1024Ter)
c.646C>T (p.Gln216Ter)
n.646C>T
c.2884C>T (p.Gln962Ter)
c.2872C>T (p.Gln958Ter)
c.2845C>T (p.Gln949Ter)
n.3423C>T
n.3425C>T
c.3193C>T (p.Gln1065Ter)
c.2962C>T (p.Gln988Ter)
n.3208C>T
 gnomAD v4
11g.77182150A>CCA381944374MYO7Ac.3104A>C (p.Gln1035Pro)
c.1169A>C (p.Gln390Pro)
c.945A>C
c.3071A>C (p.Gln1024Pro)
c.647A>C (p.Gln216Pro)
n.647A>C
c.2885A>C (p.Gln962Pro)
c.2873A>C (p.Gln958Pro)
c.2846A>C (p.Gln949Pro)
n.3424A>C
n.3426A>C
c.3194A>C (p.Gln1065Pro)
c.2963A>C (p.Gln988Pro)
n.3209A>C
11g.77182150A>GCA381944376MYO7Ac.3104A>G (p.Gln1035Arg)
c.1169A>G (p.Gln390Arg)
c.945A>G
c.3071A>G (p.Gln1024Arg)
c.647A>G (p.Gln216Arg)
n.647A>G
c.2885A>G (p.Gln962Arg)
c.2873A>G (p.Gln958Arg)
c.2846A>G (p.Gln949Arg)
n.3424A>G
n.3426A>G
c.3194A>G (p.Gln1065Arg)
c.2963A>G (p.Gln988Arg)
n.3209A>G
11g.77182150A>TCA381944378MYO7Ac.3104A>T (p.Gln1035Leu)
c.1169A>T (p.Gln390Leu)
c.945A>T
c.3071A>T (p.Gln1024Leu)
c.647A>T (p.Gln216Leu)
n.647A>T
c.2885A>T (p.Gln962Leu)
c.2873A>T (p.Gln958Leu)
c.2846A>T (p.Gln949Leu)
n.3424A>T
n.3426A>T
c.3194A>T (p.Gln1065Leu)
c.2963A>T (p.Gln988Leu)
n.3209A>T
11g.77182151G>CCA381944380MYO7Ac.3105G>C (p.Gln1035His)
c.1170G>C (p.Gln390His)
c.946G>C
c.3072G>C (p.Gln1024His)
c.648G>C (p.Gln216His)
n.648G>C
c.2886G>C (p.Gln962His)
c.2874G>C (p.Gln958His)
c.2847G>C (p.Gln949His)
n.3425G>C
n.3427G>C
c.3195G>C (p.Gln1065His)
c.2964G>C (p.Gln988His)
n.3210G>C
11g.77182151G>TCA381944381MYO7Ac.3105G>T (p.Gln1035His)
c.1170G>T (p.Gln390His)
c.946G>T
c.3072G>T (p.Gln1024His)
c.648G>T (p.Gln216His)
n.648G>T
c.2886G>T (p.Gln962His)
c.2874G>T (p.Gln958His)
c.2847G>T (p.Gln949His)
n.3425G>T
n.3427G>T
c.3195G>T (p.Gln1065His)
c.2964G>T (p.Gln988His)
n.3210G>T
11g.77182152C>ACA381944383MYO7Ac.3106C>A (p.Leu1036Met)
c.1171C>A (p.Leu391Met)
c.947C>A
c.3073C>A (p.Leu1025Met)
c.649C>A (p.Leu217Met)
n.649C>A
c.2887C>A (p.Leu963Met)
c.2875C>A (p.Leu959Met)
c.2848C>A (p.Leu950Met)
n.3426C>A
n.3428C>A
c.3196C>A (p.Leu1066Met)
c.2965C>A (p.Leu989Met)
n.3211C>A
11g.77182152C>GCA381944385MYO7Ac.3106C>G (p.Leu1036Val)
c.1171C>G (p.Leu391Val)
c.947C>G
c.3073C>G (p.Leu1025Val)
c.649C>G (p.Leu217Val)
n.649C>G
c.2887C>G (p.Leu963Val)
c.2875C>G (p.Leu959Val)
c.2848C>G (p.Leu950Val)
n.3426C>G
n.3428C>G
c.3196C>G (p.Leu1066Val)
c.2965C>G (p.Leu989Val)
n.3211C>G
11g.77182152C>TCA2697548828MYO7Ac.3106C>T (p.Leu1036=)
c.1171C>T (p.Leu391=)
c.947C>T
c.3073C>T (p.Leu1025=)
c.649C>T (p.Leu217=)
n.649C>T
c.2887C>T (p.Leu963=)
c.2875C>T (p.Leu959=)
c.2848C>T (p.Leu950=)
n.3426C>T
n.3428C>T
c.3196C>T (p.Leu1066=)
c.2965C>T (p.Leu989=)
n.3211C>T
 ClinVar
11g.77182153T>ACA381944387MYO7Ac.3107T>A (p.Leu1036Gln)
c.1172T>A (p.Leu391Gln)
c.948T>A
c.3074T>A (p.Leu1025Gln)
c.650T>A (p.Leu217Gln)
n.650T>A
c.2888T>A (p.Leu963Gln)
c.2876T>A (p.Leu959Gln)
c.2849T>A (p.Leu950Gln)
n.3427T>A
n.3429T>A
c.3197T>A (p.Leu1066Gln)
c.2966T>A (p.Leu989Gln)
n.3212T>A
11g.77182153T>CCA381944389MYO7Ac.3107T>C (p.Leu1036Pro)
c.1172T>C (p.Leu391Pro)
c.948T>C
c.3074T>C (p.Leu1025Pro)
c.650T>C (p.Leu217Pro)
n.650T>C
c.2888T>C (p.Leu963Pro)
c.2876T>C (p.Leu959Pro)
c.2849T>C (p.Leu950Pro)
n.3427T>C
n.3429T>C
c.3197T>C (p.Leu1066Pro)
c.2966T>C (p.Leu989Pro)
n.3212T>C
11g.77182153T>GCA381944390MYO7Ac.3107T>G (p.Leu1036Arg)
c.1172T>G (p.Leu391Arg)
c.948T>G
c.3074T>G (p.Leu1025Arg)
c.650T>G (p.Leu217Arg)
n.650T>G
c.2888T>G (p.Leu963Arg)
c.2876T>G (p.Leu959Arg)
c.2849T>G (p.Leu950Arg)
n.3427T>G
n.3429T>G
c.3197T>G (p.Leu1066Arg)
c.2966T>G (p.Leu989Arg)
n.3212T>G
11g.77182154G>ACA2839046194MYO7Ac.3108G>A (p.Leu1036=)
c.1173G>A (p.Leu391=)
c.949G>A
c.3075G>A (p.Leu1025=)
c.651G>A (p.Leu217=)
n.651G>A
c.2889G>A (p.Leu963=)
c.2877G>A (p.Leu959=)
c.2850G>A (p.Leu950=)
n.3428G>A
n.3430G>A
c.3198G>A (p.Leu1066=)
c.2967G>A (p.Leu989=)
n.3213G>A
11g.77182154G>CCA2573147754MYO7Ac.3108G>C (p.Leu1036=)
c.1173G>C (p.Leu391=)
c.949G>C
c.3075G>C (p.Leu1025=)
c.651G>C (p.Leu217=)
n.651G>C
c.2889G>C (p.Leu963=)
c.2877G>C (p.Leu959=)
c.2850G>C (p.Leu950=)
n.3428G>C
n.3430G>C
c.3198G>C (p.Leu1066=)
c.2967G>C (p.Leu989=)
n.3213G>C
 ClinVar dbSNP
11g.77182154_77182155insAGACA2792786523MYO7Ac.3108_3108+1insAGA (n.3108_3108+1insAGA)
c.1173_1173+1insAGA (n.1173_1173+1insAGA)
c.949_949+1insAGA
c.3075_3075+1insAGA (n.3075_3075+1insAGA)
c.651_651+1insAGA (n.651_651+1insAGA)
n.651_651+1insAGA
c.2889_2889+1insAGA (n.2889_2889+1insAGA)
c.2877_2877+1insAGA (n.2877_2877+1insAGA)
c.2850_2850+1insAGA (n.2850_2850+1insAGA)
n.3428_3428+1insAGA
n.3430_3430+1insAGA
c.3198_3198+1insAGA (n.3198_3198+1insAGA)
c.2967_2967+1insAGA (n.2967_2967+1insAGA)
n.3213_3213+1insAGA
11g.77182155G>ACA381944393MYO7Ac.3108+1G>A (n.3108+1G>A)
c.1173+1G>A (n.1173+1G>A)
c.949+1G>A
c.3075+1G>A (n.3075+1G>A)
c.651+1G>A (n.651+1G>A)
n.651+1G>A
c.2889+1G>A (n.2889+1G>A)
c.2877+1G>A (n.2877+1G>A)
c.2850+1G>A (n.2850+1G>A)
n.3428+1G>A
n.3430+1G>A
c.3198+1G>A (n.3198+1G>A)
c.2967+1G>A (n.2967+1G>A)
n.3213+1G>A
 ClinVar dbSNP gnomAD v4
11g.77182155G>CCA381944397MYO7Ac.3108+1G>C (n.3108+1G>C)
c.1173+1G>C (n.1173+1G>C)
c.949+1G>C
c.3075+1G>C (n.3075+1G>C)
c.651+1G>C (n.651+1G>C)
n.651+1G>C
c.2889+1G>C (n.2889+1G>C)
c.2877+1G>C (n.2877+1G>C)
c.2850+1G>C (n.2850+1G>C)
n.3428+1G>C
n.3430+1G>C
c.3198+1G>C (n.3198+1G>C)
c.2967+1G>C (n.2967+1G>C)
n.3213+1G>C
11g.77182155G>TCA381944394MYO7Ac.3108+1G>T (n.3108+1G>T)
c.1173+1G>T (n.1173+1G>T)
c.949+1G>T
c.3075+1G>T (n.3075+1G>T)
c.651+1G>T (n.651+1G>T)
n.651+1G>T
c.2889+1G>T (n.2889+1G>T)
c.2877+1G>T (n.2877+1G>T)
c.2850+1G>T (n.2850+1G>T)
n.3428+1G>T
n.3430+1G>T
c.3198+1G>T (n.3198+1G>T)
c.2967+1G>T (n.2967+1G>T)
n.3213+1G>T
 gnomAD v4
11g.77182156T>ACA381944399MYO7Ac.3108+2T>A (n.3108+2T>A)
c.1173+2T>A (n.1173+2T>A)
c.949+2T>A
c.3075+2T>A (n.3075+2T>A)
c.651+2T>A (n.651+2T>A)
n.651+2T>A
c.2889+2T>A (n.2889+2T>A)
c.2877+2T>A (n.2877+2T>A)
c.2850+2T>A (n.2850+2T>A)
n.3428+2T>A
n.3430+2T>A
c.3198+2T>A (n.3198+2T>A)
c.2967+2T>A (n.2967+2T>A)
n.3213+2T>A
11g.77182156T>CCA381944401MYO7Ac.3108+2T>C (n.3108+2T>C)
c.1173+2T>C (n.1173+2T>C)
c.949+2T>C
c.3075+2T>C (n.3075+2T>C)
c.651+2T>C (n.651+2T>C)
n.651+2T>C
c.2889+2T>C (n.2889+2T>C)
c.2877+2T>C (n.2877+2T>C)
c.2850+2T>C (n.2850+2T>C)
n.3428+2T>C
n.3430+2T>C
c.3198+2T>C (n.3198+2T>C)
c.2967+2T>C (n.2967+2T>C)
n.3213+2T>C
11g.77182156T>GCA381944403MYO7Ac.3108+2T>G (n.3108+2T>G)
c.1173+2T>G (n.1173+2T>G)
c.949+2T>G
c.3075+2T>G (n.3075+2T>G)
c.651+2T>G (n.651+2T>G)
n.651+2T>G
c.2889+2T>G (n.2889+2T>G)
c.2877+2T>G (n.2877+2T>G)
c.2850+2T>G (n.2850+2T>G)
n.3428+2T>G
n.3430+2T>G
c.3198+2T>G (n.3198+2T>G)
c.2967+2T>G (n.2967+2T>G)
n.3213+2T>G

Number of alleles fetched