Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.77214583T>ACA2615269010MYO7Ac.6559-24T>A (n.6559-24T>A)
c.4360-24T>A
c.6412-24T>A (n.6412-24T>A)
c.3985-24T>A (n.3985-24T>A)
c.6439-24T>A (n.6439-24T>A)
n.5109-24T>A
n.2073-24T>A
c.6442-24T>A (n.6442-24T>A)
c.6445-24T>A (n.6445-24T>A)
n.6853-24T>A
c.6649-24T>A (n.6649-24T>A)
c.6532-24T>A (n.6532-24T>A)
c.6535-24T>A (n.6535-24T>A)
n.6638-24T>A
n.6624-24T>A
 gnomAD v4
11g.77214587C>ACA2615269011MYO7Ac.6559-20C>A (n.6559-20C>A)
c.4360-20C>A
c.6412-20C>A (n.6412-20C>A)
c.3985-20C>A (n.3985-20C>A)
c.6439-20C>A (n.6439-20C>A)
n.5109-20C>A
n.2073-20C>A
c.6442-20C>A (n.6442-20C>A)
c.6445-20C>A (n.6445-20C>A)
n.6853-20C>A
c.6649-20C>A (n.6649-20C>A)
c.6532-20C>A (n.6532-20C>A)
c.6535-20C>A (n.6535-20C>A)
n.6638-20C>A
n.6624-20C>A
 gnomAD v4
11g.77214587C>GCA2792789125MYO7Ac.6559-20C>G (n.6559-20C>G)
c.4360-20C>G
c.6412-20C>G (n.6412-20C>G)
c.3985-20C>G (n.3985-20C>G)
c.6439-20C>G (n.6439-20C>G)
n.5109-20C>G
n.2073-20C>G
c.6442-20C>G (n.6442-20C>G)
c.6445-20C>G (n.6445-20C>G)
n.6853-20C>G
c.6649-20C>G (n.6649-20C>G)
c.6532-20C>G (n.6532-20C>G)
c.6535-20C>G (n.6535-20C>G)
n.6638-20C>G
n.6624-20C>G
11g.77214588T>GCA2574932052MYO7Ac.6559-19T>G (n.6559-19T>G)
c.4360-19T>G
c.6412-19T>G (n.6412-19T>G)
c.3985-19T>G (n.3985-19T>G)
c.6439-19T>G (n.6439-19T>G)
n.5109-19T>G
n.2073-19T>G
c.6442-19T>G (n.6442-19T>G)
c.6445-19T>G (n.6445-19T>G)
n.6853-19T>G
c.6649-19T>G (n.6649-19T>G)
c.6532-19T>G (n.6532-19T>G)
c.6535-19T>G (n.6535-19T>G)
n.6638-19T>G
n.6624-19T>G
11g.77214589T>ACA680408662MYO7Ac.6559-18T>A (n.6559-18T>A)
c.4360-18T>A
c.6412-18T>A (n.6412-18T>A)
c.3985-18T>A (n.3985-18T>A)
c.6439-18T>A (n.6439-18T>A)
n.5109-18T>A
n.2073-18T>A
c.6442-18T>A (n.6442-18T>A)
c.6445-18T>A (n.6445-18T>A)
n.6853-18T>A
c.6649-18T>A (n.6649-18T>A)
c.6532-18T>A (n.6532-18T>A)
c.6535-18T>A (n.6535-18T>A)
n.6638-18T>A
n.6624-18T>A
 dbSNP gnomAD v3 gnomAD v4
11g.77214589T>GCA2697548831MYO7Ac.6559-18T>G (n.6559-18T>G)
c.4360-18T>G
c.6412-18T>G (n.6412-18T>G)
c.3985-18T>G (n.3985-18T>G)
c.6439-18T>G (n.6439-18T>G)
n.5109-18T>G
n.2073-18T>G
c.6442-18T>G (n.6442-18T>G)
c.6445-18T>G (n.6445-18T>G)
n.6853-18T>G
c.6649-18T>G (n.6649-18T>G)
c.6532-18T>G (n.6532-18T>G)
c.6535-18T>G (n.6535-18T>G)
n.6638-18T>G
n.6624-18T>G
 ClinVar
11g.77214589T=CA1984131499MYO7Ac.6559-18T= (n.6559-18T=)
c.4360-18T=
c.6412-18T= (n.6412-18T=)
c.3985-18T= (n.3985-18T=)
c.6439-18T= (n.6439-18T=)
n.5109-18T=
n.2073-18T=
c.6442-18T= (n.6442-18T=)
c.6445-18T= (n.6445-18T=)
n.6853-18T=
c.6649-18T= (n.6649-18T=)
c.6532-18T= (n.6532-18T=)
c.6535-18T= (n.6535-18T=)
n.6638-18T=
n.6624-18T=
11g.77214590C>ACA2615269013MYO7Ac.6559-17C>A (n.6559-17C>A)
c.4360-17C>A
c.6412-17C>A (n.6412-17C>A)
c.3985-17C>A (n.3985-17C>A)
c.6439-17C>A (n.6439-17C>A)
n.5109-17C>A
n.2073-17C>A
c.6442-17C>A (n.6442-17C>A)
c.6445-17C>A (n.6445-17C>A)
n.6853-17C>A
c.6649-17C>A (n.6649-17C>A)
c.6532-17C>A (n.6532-17C>A)
c.6535-17C>A (n.6535-17C>A)
n.6638-17C>A
n.6624-17C>A
 gnomAD v4
11g.77214590C=CA1984131500MYO7Ac.6559-17C= (n.6559-17C=)
c.4360-17C=
c.6412-17C= (n.6412-17C=)
c.3985-17C= (n.3985-17C=)
c.6439-17C= (n.6439-17C=)
n.5109-17C=
n.2073-17C=
c.6442-17C= (n.6442-17C=)
c.6445-17C= (n.6445-17C=)
n.6853-17C=
c.6649-17C= (n.6649-17C=)
c.6532-17C= (n.6532-17C=)
c.6535-17C= (n.6535-17C=)
n.6638-17C=
n.6624-17C=
11g.77214590C>TCA939780212MYO7Ac.6559-17C>T (n.6559-17C>T)
c.4360-17C>T
c.6412-17C>T (n.6412-17C>T)
c.3985-17C>T (n.3985-17C>T)
c.6439-17C>T (n.6439-17C>T)
n.5109-17C>T
n.2073-17C>T
c.6442-17C>T (n.6442-17C>T)
c.6445-17C>T (n.6445-17C>T)
n.6853-17C>T
c.6649-17C>T (n.6649-17C>T)
c.6532-17C>T (n.6532-17C>T)
c.6535-17C>T (n.6535-17C>T)
n.6638-17C>T
n.6624-17C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77214591T>ACA2615269016MYO7Ac.6559-16T>A (n.6559-16T>A)
c.4360-16T>A
c.6412-16T>A (n.6412-16T>A)
c.3985-16T>A (n.3985-16T>A)
c.6439-16T>A (n.6439-16T>A)
n.5109-16T>A
n.2073-16T>A
c.6442-16T>A (n.6442-16T>A)
c.6445-16T>A (n.6445-16T>A)
n.6853-16T>A
c.6649-16T>A (n.6649-16T>A)
c.6532-16T>A (n.6532-16T>A)
c.6535-16T>A (n.6535-16T>A)
n.6638-16T>A
n.6624-16T>A
 gnomAD v4
11g.77214591T>CCA2615269018MYO7Ac.6559-16T>C (n.6559-16T>C)
c.4360-16T>C
c.6412-16T>C (n.6412-16T>C)
c.3985-16T>C (n.3985-16T>C)
c.6439-16T>C (n.6439-16T>C)
n.5109-16T>C
n.2073-16T>C
c.6442-16T>C (n.6442-16T>C)
c.6445-16T>C (n.6445-16T>C)
n.6853-16T>C
c.6649-16T>C (n.6649-16T>C)
c.6532-16T>C (n.6532-16T>C)
c.6535-16T>C (n.6535-16T>C)
n.6638-16T>C
n.6624-16T>C
 dbSNP gnomAD v4
11g.77214592C>ACA2615269021MYO7Ac.6559-15C>A (n.6559-15C>A)
c.4360-15C>A
c.6412-15C>A (n.6412-15C>A)
c.3985-15C>A (n.3985-15C>A)
c.6439-15C>A (n.6439-15C>A)
n.5109-15C>A
n.2073-15C>A
c.6442-15C>A (n.6442-15C>A)
c.6445-15C>A (n.6445-15C>A)
n.6853-15C>A
c.6649-15C>A (n.6649-15C>A)
c.6532-15C>A (n.6532-15C>A)
c.6535-15C>A (n.6535-15C>A)
n.6638-15C>A
n.6624-15C>A
 gnomAD v4
11g.77214593A=CA1984131502MYO7Ac.6559-14A= (n.6559-14A=)
c.4360-14A=
c.6412-14A= (n.6412-14A=)
c.3985-14A= (n.3985-14A=)
c.6439-14A= (n.6439-14A=)
n.5109-14A=
n.2073-14A=
c.6442-14A= (n.6442-14A=)
c.6445-14A= (n.6445-14A=)
n.6853-14A=
c.6649-14A= (n.6649-14A=)
c.6532-14A= (n.6532-14A=)
c.6535-14A= (n.6535-14A=)
n.6638-14A=
n.6624-14A=
11g.77214593A>CCA1984131501MYO7Ac.6559-14A>C (n.6559-14A>C)
c.4360-14A>C
c.6412-14A>C (n.6412-14A>C)
c.3985-14A>C (n.3985-14A>C)
c.6439-14A>C (n.6439-14A>C)
n.5109-14A>C
n.2073-14A>C
c.6442-14A>C (n.6442-14A>C)
c.6445-14A>C (n.6445-14A>C)
n.6853-14A>C
c.6649-14A>C (n.6649-14A>C)
c.6532-14A>C (n.6532-14A>C)
c.6535-14A>C (n.6535-14A>C)
n.6638-14A>C
n.6624-14A>C
 dbSNP
11g.77214593A>GCA2615269023MYO7Ac.6559-14A>G (n.6559-14A>G)
c.4360-14A>G
c.6412-14A>G (n.6412-14A>G)
c.3985-14A>G (n.3985-14A>G)
c.6439-14A>G (n.6439-14A>G)
n.5109-14A>G
n.2073-14A>G
c.6442-14A>G (n.6442-14A>G)
c.6445-14A>G (n.6445-14A>G)
n.6853-14A>G
c.6649-14A>G (n.6649-14A>G)
c.6532-14A>G (n.6532-14A>G)
c.6535-14A>G (n.6535-14A>G)
n.6638-14A>G
n.6624-14A>G
 gnomAD v4
11g.77214593A>TCA600344062MYO7Ac.6559-14A>T (n.6559-14A>T)
c.4360-14A>T
c.6412-14A>T (n.6412-14A>T)
c.3985-14A>T (n.3985-14A>T)
c.6439-14A>T (n.6439-14A>T)
n.5109-14A>T
n.2073-14A>T
c.6442-14A>T (n.6442-14A>T)
c.6445-14A>T (n.6445-14A>T)
n.6853-14A>T
c.6649-14A>T (n.6649-14A>T)
c.6532-14A>T (n.6532-14A>T)
c.6535-14A>T (n.6535-14A>T)
n.6638-14A>T
n.6624-14A>T
 dbSNP gnomAD v2 gnomAD v4
11g.77214594C>GCA2573147850MYO7Ac.6559-13C>G (n.6559-13C>G)
c.4360-13C>G
c.6412-13C>G (n.6412-13C>G)
c.3985-13C>G (n.3985-13C>G)
c.6439-13C>G (n.6439-13C>G)
n.5109-13C>G
n.2073-13C>G
c.6442-13C>G (n.6442-13C>G)
c.6445-13C>G (n.6445-13C>G)
n.6853-13C>G
c.6649-13C>G (n.6649-13C>G)
c.6532-13C>G (n.6532-13C>G)
c.6535-13C>G (n.6535-13C>G)
n.6638-13C>G
n.6624-13C>G
 ClinVar dbSNP
11g.77214594C>TCA2615269027MYO7Ac.6559-13C>T (n.6559-13C>T)
c.4360-13C>T
c.6412-13C>T (n.6412-13C>T)
c.3985-13C>T (n.3985-13C>T)
c.6439-13C>T (n.6439-13C>T)
n.5109-13C>T
n.2073-13C>T
c.6442-13C>T (n.6442-13C>T)
c.6445-13C>T (n.6445-13C>T)
n.6853-13C>T
c.6649-13C>T (n.6649-13C>T)
c.6532-13C>T (n.6532-13C>T)
c.6535-13C>T (n.6535-13C>T)
n.6638-13C>T
n.6624-13C>T
 dbSNP gnomAD v4
11g.77214596_77214597dupCA600344063MYO7Ac.6559-11_6559-10dup (n.6559-11_6559-10dup)
c.4360-11_4360-10dup
c.6412-11_6412-10dup (n.6412-11_6412-10dup)
c.3985-11_3985-10dup (n.3985-11_3985-10dup)
c.6439-11_6439-10dup (n.6439-11_6439-10dup)
n.5109-11_5109-10dup
n.2073-11_2073-10dup
c.6442-11_6442-10dup (n.6442-11_6442-10dup)
c.6445-11_6445-10dup (n.6445-11_6445-10dup)
n.6853-11_6853-10dup
c.6649-11_6649-10dup (n.6649-11_6649-10dup)
c.6532-11_6532-10dup (n.6532-11_6532-10dup)
c.6535-11_6535-10dup (n.6535-11_6535-10dup)
n.6638-11_6638-10dup
n.6624-11_6624-10dup
 dbSNP gnomAD v2 gnomAD v4
11g.77214595C>ACA2615269029MYO7Ac.6559-12C>A (n.6559-12C>A)
c.4360-12C>A
c.6412-12C>A (n.6412-12C>A)
c.3985-12C>A (n.3985-12C>A)
c.6439-12C>A (n.6439-12C>A)
n.5109-12C>A
n.2073-12C>A
c.6442-12C>A (n.6442-12C>A)
c.6445-12C>A (n.6445-12C>A)
n.6853-12C>A
c.6649-12C>A (n.6649-12C>A)
c.6532-12C>A (n.6532-12C>A)
c.6535-12C>A (n.6535-12C>A)
n.6638-12C>A
n.6624-12C>A
 gnomAD v4
11g.77214595C=CA1984131503MYO7Ac.6559-12C= (n.6559-12C=)
c.4360-12C=
c.6412-12C= (n.6412-12C=)
c.3985-12C= (n.3985-12C=)
c.6439-12C= (n.6439-12C=)
n.5109-12C=
n.2073-12C=
c.6442-12C= (n.6442-12C=)
c.6445-12C= (n.6445-12C=)
n.6853-12C=
c.6649-12C= (n.6649-12C=)
c.6532-12C= (n.6532-12C=)
c.6535-12C= (n.6535-12C=)
n.6638-12C=
n.6624-12C=
11g.77214595C>GCA600344064MYO7Ac.6559-12C>G (n.6559-12C>G)
c.4360-12C>G
c.6412-12C>G (n.6412-12C>G)
c.3985-12C>G (n.3985-12C>G)
c.6439-12C>G (n.6439-12C>G)
n.5109-12C>G
n.2073-12C>G
c.6442-12C>G (n.6442-12C>G)
c.6445-12C>G (n.6445-12C>G)
n.6853-12C>G
c.6649-12C>G (n.6649-12C>G)
c.6532-12C>G (n.6532-12C>G)
c.6535-12C>G (n.6535-12C>G)
n.6638-12C>G
n.6624-12C>G
 dbSNP gnomAD v2 gnomAD v4
11g.77214595C>TCA680408665MYO7Ac.6559-12C>T (n.6559-12C>T)
c.4360-12C>T
c.6412-12C>T (n.6412-12C>T)
c.3985-12C>T (n.3985-12C>T)
c.6439-12C>T (n.6439-12C>T)
n.5109-12C>T
n.2073-12C>T
c.6442-12C>T (n.6442-12C>T)
c.6445-12C>T (n.6445-12C>T)
n.6853-12C>T
c.6649-12C>T (n.6649-12C>T)
c.6532-12C>T (n.6532-12C>T)
c.6535-12C>T (n.6535-12C>T)
n.6638-12C>T
n.6624-12C>T
 ClinVar dbSNP gnomAD v4
11g.77214596C>ACA224830563MYO7Ac.6559-11C>A (n.6559-11C>A)
c.4360-11C>A
c.6412-11C>A (n.6412-11C>A)
c.3985-11C>A (n.3985-11C>A)
c.6439-11C>A (n.6439-11C>A)
n.5109-11C>A
n.2073-11C>A
c.6442-11C>A (n.6442-11C>A)
c.6445-11C>A (n.6445-11C>A)
n.6853-11C>A
c.6649-11C>A (n.6649-11C>A)
c.6532-11C>A (n.6532-11C>A)
c.6535-11C>A (n.6535-11C>A)
n.6638-11C>A
n.6624-11C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77214596C=CA1984131504MYO7Ac.6559-11C= (n.6559-11C=)
c.4360-11C=
c.6412-11C= (n.6412-11C=)
c.3985-11C= (n.3985-11C=)
c.6439-11C= (n.6439-11C=)
n.5109-11C=
n.2073-11C=
c.6442-11C= (n.6442-11C=)
c.6445-11C= (n.6445-11C=)
n.6853-11C=
c.6649-11C= (n.6649-11C=)
c.6532-11C= (n.6532-11C=)
c.6535-11C= (n.6535-11C=)
n.6638-11C=
n.6624-11C=
11g.77214596C>GCA2581047406MYO7Ac.6559-11C>G (n.6559-11C>G)
c.4360-11C>G
c.6412-11C>G (n.6412-11C>G)
c.3985-11C>G (n.3985-11C>G)
c.6439-11C>G (n.6439-11C>G)
n.5109-11C>G
n.2073-11C>G
c.6442-11C>G (n.6442-11C>G)
c.6445-11C>G (n.6445-11C>G)
n.6853-11C>G
c.6649-11C>G (n.6649-11C>G)
c.6532-11C>G (n.6532-11C>G)
c.6535-11C>G (n.6535-11C>G)
n.6638-11C>G
n.6624-11C>G
11g.77214596C>TCA132440MYO7Ac.6559-11C>T (n.6559-11C>T)
c.4360-11C>T
c.6412-11C>T (n.6412-11C>T)
c.3985-11C>T (n.3985-11C>T)
c.6439-11C>T (n.6439-11C>T)
n.5109-11C>T
n.2073-11C>T
c.6442-11C>T (n.6442-11C>T)
c.6445-11C>T (n.6445-11C>T)
n.6853-11C>T
c.6649-11C>T (n.6649-11C>T)
c.6532-11C>T (n.6532-11C>T)
c.6535-11C>T (n.6535-11C>T)
n.6638-11C>T
n.6624-11C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77214597C>ACA2615269042MYO7Ac.6559-10C>A (n.6559-10C>A)
c.4360-10C>A
c.6412-10C>A (n.6412-10C>A)
c.3985-10C>A (n.3985-10C>A)
c.6439-10C>A (n.6439-10C>A)
n.5109-10C>A
n.2073-10C>A
c.6442-10C>A (n.6442-10C>A)
c.6445-10C>A (n.6445-10C>A)
n.6853-10C>A
c.6649-10C>A (n.6649-10C>A)
c.6532-10C>A (n.6532-10C>A)
c.6535-10C>A (n.6535-10C>A)
n.6638-10C>A
n.6624-10C>A
 gnomAD v4
11g.77214597C>TCA2792789126MYO7Ac.6559-10C>T (n.6559-10C>T)
c.4360-10C>T
c.6412-10C>T (n.6412-10C>T)
c.3985-10C>T (n.3985-10C>T)
c.6439-10C>T (n.6439-10C>T)
n.5109-10C>T
n.2073-10C>T
c.6442-10C>T (n.6442-10C>T)
c.6445-10C>T (n.6445-10C>T)
n.6853-10C>T
c.6649-10C>T (n.6649-10C>T)
c.6532-10C>T (n.6532-10C>T)
c.6535-10C>T (n.6535-10C>T)
n.6638-10C>T
n.6624-10C>T
11g.77214598T>ACA2615269044MYO7Ac.6559-9T>A (n.6559-9T>A)
c.4360-9T>A
c.6412-9T>A (n.6412-9T>A)
c.3985-9T>A (n.3985-9T>A)
c.6439-9T>A (n.6439-9T>A)
n.5109-9T>A
n.2073-9T>A
c.6442-9T>A (n.6442-9T>A)
c.6445-9T>A (n.6445-9T>A)
n.6853-9T>A
c.6649-9T>A (n.6649-9T>A)
c.6532-9T>A (n.6532-9T>A)
c.6535-9T>A (n.6535-9T>A)
n.6638-9T>A
n.6624-9T>A
 gnomAD v4
11g.77214599G>TCA2615269045MYO7Ac.6559-8G>T (n.6559-8G>T)
c.4360-8G>T
c.6412-8G>T (n.6412-8G>T)
c.3985-8G>T (n.3985-8G>T)
c.6439-8G>T (n.6439-8G>T)
n.5109-8G>T
n.2073-8G>T
c.6442-8G>T (n.6442-8G>T)
c.6445-8G>T (n.6445-8G>T)
n.6853-8G>T
c.6649-8G>T (n.6649-8G>T)
c.6532-8G>T (n.6532-8G>T)
c.6535-8G>T (n.6535-8G>T)
n.6638-8G>T
n.6624-8G>T
 gnomAD v4
11g.77214600C>ACA2615269046MYO7Ac.6559-7C>A (n.6559-7C>A)
c.4360-7C>A
c.6412-7C>A (n.6412-7C>A)
c.3985-7C>A (n.3985-7C>A)
c.6439-7C>A (n.6439-7C>A)
n.5109-7C>A
n.2073-7C>A
c.6442-7C>A (n.6442-7C>A)
c.6445-7C>A (n.6445-7C>A)
n.6853-7C>A
c.6649-7C>A (n.6649-7C>A)
c.6532-7C>A (n.6532-7C>A)
c.6535-7C>A (n.6535-7C>A)
n.6638-7C>A
n.6624-7C>A
 gnomAD v4
11g.77214601T>CCA600344065MYO7Ac.6559-6T>C (n.6559-6T>C)
c.4360-6T>C
c.6412-6T>C (n.6412-6T>C)
c.3985-6T>C (n.3985-6T>C)
c.6439-6T>C (n.6439-6T>C)
n.5109-6T>C
n.2073-6T>C
c.6442-6T>C (n.6442-6T>C)
c.6445-6T>C (n.6445-6T>C)
n.6853-6T>C
c.6649-6T>C (n.6649-6T>C)
c.6532-6T>C (n.6532-6T>C)
c.6535-6T>C (n.6535-6T>C)
n.6638-6T>C
n.6624-6T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77214601T=CA1984131505MYO7Ac.6559-6T= (n.6559-6T=)
c.4360-6T=
c.6412-6T= (n.6412-6T=)
c.3985-6T= (n.3985-6T=)
c.6439-6T= (n.6439-6T=)
n.5109-6T=
n.2073-6T=
c.6442-6T= (n.6442-6T=)
c.6445-6T= (n.6445-6T=)
n.6853-6T=
c.6649-6T= (n.6649-6T=)
c.6532-6T= (n.6532-6T=)
c.6535-6T= (n.6535-6T=)
n.6638-6T=
n.6624-6T=
11g.77214603C>ACA2615269053MYO7Ac.6559-4C>A (n.6559-4C>A)
c.4360-4C>A
c.6412-4C>A (n.6412-4C>A)
c.3985-4C>A (n.3985-4C>A)
c.6439-4C>A (n.6439-4C>A)
n.5109-4C>A
n.2073-4C>A
c.6442-4C>A (n.6442-4C>A)
c.6445-4C>A (n.6445-4C>A)
n.6853-4C>A
c.6649-4C>A (n.6649-4C>A)
c.6532-4C>A (n.6532-4C>A)
c.6535-4C>A (n.6535-4C>A)
n.6638-4C>A
n.6624-4C>A
 gnomAD v4
11g.77214604delCA2615269051MYO7Ac.6559-3del (n.6559-3del)
c.4360-3del
c.6412-3del (n.6412-3del)
c.3985-3del (n.3985-3del)
c.6439-3del (n.6439-3del)
n.5109-3del
n.2073-3del
c.6442-3del (n.6442-3del)
c.6445-3del (n.6445-3del)
n.6853-3del
c.6649-3del (n.6649-3del)
c.6532-3del (n.6532-3del)
c.6535-3del (n.6535-3del)
n.6638-3del
n.6624-3del
 gnomAD v4
11g.77214604C>ACA2615269056MYO7Ac.6559-3C>A (n.6559-3C>A)
c.4360-3C>A
c.6412-3C>A (n.6412-3C>A)
c.3985-3C>A (n.3985-3C>A)
c.6439-3C>A (n.6439-3C>A)
n.5109-3C>A
n.2073-3C>A
c.6442-3C>A (n.6442-3C>A)
c.6445-3C>A (n.6445-3C>A)
n.6853-3C>A
c.6649-3C>A (n.6649-3C>A)
c.6532-3C>A (n.6532-3C>A)
c.6535-3C>A (n.6535-3C>A)
n.6638-3C>A
n.6624-3C>A
 gnomAD v4
11g.77214604C>GCA2792789127MYO7Ac.6559-3C>G (n.6559-3C>G)
c.4360-3C>G
c.6412-3C>G (n.6412-3C>G)
c.3985-3C>G (n.3985-3C>G)
c.6439-3C>G (n.6439-3C>G)
n.5109-3C>G
n.2073-3C>G
c.6442-3C>G (n.6442-3C>G)
c.6445-3C>G (n.6445-3C>G)
n.6853-3C>G
c.6649-3C>G (n.6649-3C>G)
c.6532-3C>G (n.6532-3C>G)
c.6535-3C>G (n.6535-3C>G)
n.6638-3C>G
n.6624-3C>G
11g.77214604C>TCA2573147851MYO7Ac.6559-3C>T (n.6559-3C>T)
c.4360-3C>T
c.6412-3C>T (n.6412-3C>T)
c.3985-3C>T (n.3985-3C>T)
c.6439-3C>T (n.6439-3C>T)
n.5109-3C>T
n.2073-3C>T
c.6442-3C>T (n.6442-3C>T)
c.6445-3C>T (n.6445-3C>T)
n.6853-3C>T
c.6649-3C>T (n.6649-3C>T)
c.6532-3C>T (n.6532-3C>T)
c.6535-3C>T (n.6535-3C>T)
n.6638-3C>T
n.6624-3C>T
 ClinVar dbSNP gnomAD v4
11g.77214605A>CCA381939038MYO7Ac.6559-2A>C (n.6559-2A>C)
c.4360-2A>C
c.6412-2A>C (n.6412-2A>C)
c.3985-2A>C (n.3985-2A>C)
c.6439-2A>C (n.6439-2A>C)
n.5109-2A>C
n.2073-2A>C
c.6442-2A>C (n.6442-2A>C)
c.6445-2A>C (n.6445-2A>C)
n.6853-2A>C
c.6649-2A>C (n.6649-2A>C)
c.6532-2A>C (n.6532-2A>C)
c.6535-2A>C (n.6535-2A>C)
n.6638-2A>C
n.6624-2A>C
11g.77214605A>GCA381939040MYO7Ac.6559-2A>G (n.6559-2A>G)
c.4360-2A>G
c.6412-2A>G (n.6412-2A>G)
c.3985-2A>G (n.3985-2A>G)
c.6439-2A>G (n.6439-2A>G)
n.5109-2A>G
n.2073-2A>G
c.6442-2A>G (n.6442-2A>G)
c.6445-2A>G (n.6445-2A>G)
n.6853-2A>G
c.6649-2A>G (n.6649-2A>G)
c.6532-2A>G (n.6532-2A>G)
c.6535-2A>G (n.6535-2A>G)
n.6638-2A>G
n.6624-2A>G
 gnomAD v4
11g.77214605A>TCA381939042MYO7Ac.6559-2A>T (n.6559-2A>T)
c.4360-2A>T
c.6412-2A>T (n.6412-2A>T)
c.3985-2A>T (n.3985-2A>T)
c.6439-2A>T (n.6439-2A>T)
n.5109-2A>T
n.2073-2A>T
c.6442-2A>T (n.6442-2A>T)
c.6445-2A>T (n.6445-2A>T)
n.6853-2A>T
c.6649-2A>T (n.6649-2A>T)
c.6532-2A>T (n.6532-2A>T)
c.6535-2A>T (n.6535-2A>T)
n.6638-2A>T
n.6624-2A>T
 gnomAD v4
11g.77214606G>ACA381939045MYO7Ac.6559-1G>A (n.6559-1G>A)
c.4360-1G>A
c.6412-1G>A (n.6412-1G>A)
c.3985-1G>A (n.3985-1G>A)
c.6439-1G>A (n.6439-1G>A)
n.5109-1G>A
n.2073-1G>A
c.6442-1G>A (n.6442-1G>A)
c.6445-1G>A (n.6445-1G>A)
n.6853-1G>A
c.6649-1G>A (n.6649-1G>A)
c.6532-1G>A (n.6532-1G>A)
c.6535-1G>A (n.6535-1G>A)
n.6638-1G>A
n.6624-1G>A
 dbSNP gnomAD v2 gnomAD v4
11g.77214606G>CCA381939048MYO7Ac.6559-1G>C (n.6559-1G>C)
c.4360-1G>C
c.6412-1G>C (n.6412-1G>C)
c.3985-1G>C (n.3985-1G>C)
c.6439-1G>C (n.6439-1G>C)
n.5109-1G>C
n.2073-1G>C
c.6442-1G>C (n.6442-1G>C)
c.6445-1G>C (n.6445-1G>C)
n.6853-1G>C
c.6649-1G>C (n.6649-1G>C)
c.6532-1G>C (n.6532-1G>C)
c.6535-1G>C (n.6535-1G>C)
n.6638-1G>C
n.6624-1G>C
11g.77214606G=CA1984131506MYO7Ac.6559-1G= (n.6559-1G=)
c.4360-1G=
c.6412-1G= (n.6412-1G=)
c.3985-1G= (n.3985-1G=)
c.6439-1G= (n.6439-1G=)
n.5109-1G=
n.2073-1G=
c.6442-1G= (n.6442-1G=)
c.6445-1G= (n.6445-1G=)
n.6853-1G=
c.6649-1G= (n.6649-1G=)
c.6532-1G= (n.6532-1G=)
c.6535-1G= (n.6535-1G=)
n.6638-1G=
n.6624-1G=
11g.77214606G>TCA381939051MYO7Ac.6559-1G>T (n.6559-1G>T)
c.4360-1G>T
c.6412-1G>T (n.6412-1G>T)
c.3985-1G>T (n.3985-1G>T)
c.6439-1G>T (n.6439-1G>T)
n.5109-1G>T
n.2073-1G>T
c.6442-1G>T (n.6442-1G>T)
c.6445-1G>T (n.6445-1G>T)
n.6853-1G>T
c.6649-1G>T (n.6649-1G>T)
c.6532-1G>T (n.6532-1G>T)
c.6535-1G>T (n.6535-1G>T)
n.6638-1G>T
n.6624-1G>T
11g.77214607G>ACA381939055MYO7Ac.6559G>A (p.Gly2187Ser)
c.4360G>A
c.6412G>A (p.Gly2138Ser)
c.3985G>A (p.Gly1329Ser)
c.6439G>A (p.Gly2147Ser)
n.5109G>A
n.2073G>A
c.6442G>A (p.Gly2148Ser)
c.6445G>A (p.Gly2149Ser)
n.6853G>A
c.6649G>A (p.Gly2217Ser)
c.6532G>A (p.Gly2178Ser)
c.6535G>A (p.Gly2179Ser)
n.6638G>A
n.6624G>A
 gnomAD v4
11g.77214607G>CCA381939068MYO7Ac.6559G>C (p.Gly2187Arg)
c.4360G>C
c.6412G>C (p.Gly2138Arg)
c.3985G>C (p.Gly1329Arg)
c.6439G>C (p.Gly2147Arg)
n.5109G>C
n.2073G>C
c.6442G>C (p.Gly2148Arg)
c.6445G>C (p.Gly2149Arg)
n.6853G>C
c.6649G>C (p.Gly2217Arg)
c.6532G>C (p.Gly2178Arg)
c.6535G>C (p.Gly2179Arg)
n.6638G>C
n.6624G>C
11g.77214607G>TCA381939072MYO7Ac.6559G>T (p.Gly2187Cys)
c.4360G>T
c.6412G>T (p.Gly2138Cys)
c.3985G>T (p.Gly1329Cys)
c.6439G>T (p.Gly2147Cys)
n.5109G>T
n.2073G>T
c.6442G>T (p.Gly2148Cys)
c.6445G>T (p.Gly2149Cys)
n.6853G>T
c.6649G>T (p.Gly2217Cys)
c.6532G>T (p.Gly2178Cys)
c.6535G>T (p.Gly2179Cys)
n.6638G>T
n.6624G>T
11g.77214608G>ACA278713MYO7Ac.6560G>A (p.Gly2187Asp)
c.4361G>A
c.6413G>A (p.Gly2138Asp)
c.3986G>A (p.Gly1329Asp)
c.6440G>A (p.Gly2147Asp)
n.5110G>A
n.2074G>A
c.6443G>A (p.Gly2148Asp)
c.6446G>A (p.Gly2149Asp)
n.6854G>A
c.6650G>A (p.Gly2217Asp)
c.6533G>A (p.Gly2178Asp)
c.6536G>A (p.Gly2179Asp)
n.6639G>A
n.6625G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77214608G>CCA381939079MYO7Ac.6560G>C (p.Gly2187Ala)
c.4361G>C
c.6413G>C (p.Gly2138Ala)
c.3986G>C (p.Gly1329Ala)
c.6440G>C (p.Gly2147Ala)
n.5110G>C
n.2074G>C
c.6443G>C (p.Gly2148Ala)
c.6446G>C (p.Gly2149Ala)
n.6854G>C
c.6650G>C (p.Gly2217Ala)
c.6533G>C (p.Gly2178Ala)
c.6536G>C (p.Gly2179Ala)
n.6639G>C
n.6625G>C
11g.77214608G=CA1984131507MYO7Ac.6560G= (p.Gly2187=)
c.4361G=
c.6413G= (p.Gly2138=)
c.3986G= (p.Gly1329=)
c.6440G= (p.Gly2147=)
n.5110G=
n.2074G=
c.6443G= (p.Gly2148=)
c.6446G= (p.Gly2149=)
n.6854G=
c.6650G= (p.Gly2217=)
c.6533G= (p.Gly2178=)
c.6536G= (p.Gly2179=)
n.6639G=
n.6625G=
11g.77214608G>TCA6199129MYO7Ac.6560G>T (p.Gly2187Val)
c.4361G>T
c.6413G>T (p.Gly2138Val)
c.3986G>T (p.Gly1329Val)
c.6440G>T (p.Gly2147Val)
n.5110G>T
n.2074G>T
c.6443G>T (p.Gly2148Val)
c.6446G>T (p.Gly2149Val)
n.6854G>T
c.6650G>T (p.Gly2217Val)
c.6533G>T (p.Gly2178Val)
c.6536G>T (p.Gly2179Val)
n.6639G>T
n.6625G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77214609C>ACA475792731MYO7Ac.6561C>A (p.Gly2187=)
c.4362C>A
c.6414C>A (p.Gly2138=)
c.3987C>A (p.Gly1329=)
c.6441C>A (p.Gly2147=)
n.5111C>A
n.2075C>A
c.6444C>A (p.Gly2148=)
c.6447C>A (p.Gly2149=)
n.6855C>A
c.6651C>A (p.Gly2217=)
c.6534C>A (p.Gly2178=)
c.6537C>A (p.Gly2179=)
n.6640C>A
n.6626C>A
 gnomAD v4
11g.77214609C>GCA475792732MYO7Ac.6561C>G (p.Gly2187=)
c.4362C>G
c.6414C>G (p.Gly2138=)
c.3987C>G (p.Gly1329=)
c.6441C>G (p.Gly2147=)
n.5111C>G
n.2075C>G
c.6444C>G (p.Gly2148=)
c.6447C>G (p.Gly2149=)
n.6855C>G
c.6651C>G (p.Gly2217=)
c.6534C>G (p.Gly2178=)
c.6537C>G (p.Gly2179=)
n.6640C>G
n.6626C>G
11g.77214609C>TCA475792734MYO7Ac.6561C>T (p.Gly2187=)
c.4362C>T
c.6414C>T (p.Gly2138=)
c.3987C>T (p.Gly1329=)
c.6441C>T (p.Gly2147=)
n.5111C>T
n.2075C>T
c.6444C>T (p.Gly2148=)
c.6447C>T (p.Gly2149=)
n.6855C>T
c.6651C>T (p.Gly2217=)
c.6534C>T (p.Gly2178=)
c.6537C>T (p.Gly2179=)
n.6640C>T
n.6626C>T
 gnomAD v4
11g.77214610T>ACA381939085MYO7Ac.6562T>A (p.Tyr2188Asn)
c.4363T>A
c.6415T>A (p.Tyr2139Asn)
c.3988T>A (p.Tyr1330Asn)
c.6442T>A (p.Tyr2148Asn)
n.5112T>A
n.2076T>A
c.6445T>A (p.Tyr2149Asn)
c.6448T>A (p.Tyr2150Asn)
n.6856T>A
c.6652T>A (p.Tyr2218Asn)
c.6535T>A (p.Tyr2179Asn)
c.6538T>A (p.Tyr2180Asn)
n.6641T>A
n.6627T>A
11g.77214610T>CCA381939089MYO7Ac.6562T>C (p.Tyr2188His)
c.4363T>C
c.6415T>C (p.Tyr2139His)
c.3988T>C (p.Tyr1330His)
c.6442T>C (p.Tyr2148His)
n.5112T>C
n.2076T>C
c.6445T>C (p.Tyr2149His)
c.6448T>C (p.Tyr2150His)
n.6856T>C
c.6652T>C (p.Tyr2218His)
c.6535T>C (p.Tyr2179His)
c.6538T>C (p.Tyr2180His)
n.6641T>C
n.6627T>C
 gnomAD v4
11g.77214610T>GCA381939086MYO7Ac.6562T>G (p.Tyr2188Asp)
c.4363T>G
c.6415T>G (p.Tyr2139Asp)
c.3988T>G (p.Tyr1330Asp)
c.6442T>G (p.Tyr2148Asp)
n.5112T>G
n.2076T>G
c.6445T>G (p.Tyr2149Asp)
c.6448T>G (p.Tyr2150Asp)
n.6856T>G
c.6652T>G (p.Tyr2218Asp)
c.6535T>G (p.Tyr2179Asp)
c.6538T>G (p.Tyr2180Asp)
n.6641T>G
n.6627T>G
11g.77214610dupCA2573053573MYO7Ac.6562dup (p.Tyr2188LeufsTer5)
c.4363dup
c.6415dup (p.Tyr2139LeufsTer5)
c.3988dup (p.Tyr1330LeufsTer5)
c.6442dup (p.Tyr2148LeufsTer5)
n.5112dup
n.2076dup
c.6445dup (p.Tyr2149LeufsTer5)
c.6448dup (p.Tyr2150LeufsTer5)
n.6856dup
c.6652dup (p.Tyr2218LeufsTer5)
c.6535dup (p.Tyr2179LeufsTer5)
c.6538dup (p.Tyr2180LeufsTer5)
n.6641dup
n.6627dup
 ClinVar dbSNP
11g.77214611A>CCA381939094MYO7Ac.6563A>C (p.Tyr2188Ser)
c.4364A>C
c.6416A>C (p.Tyr2139Ser)
c.3989A>C (p.Tyr1330Ser)
c.6443A>C (p.Tyr2148Ser)
n.5113A>C
n.2077A>C
c.6446A>C (p.Tyr2149Ser)
c.6449A>C (p.Tyr2150Ser)
n.6857A>C
c.6653A>C (p.Tyr2218Ser)
c.6536A>C (p.Tyr2179Ser)
c.6539A>C (p.Tyr2180Ser)
n.6642A>C
n.6628A>C
11g.77214611A>GCA381939096MYO7Ac.6563A>G (p.Tyr2188Cys)
c.4364A>G
c.6416A>G (p.Tyr2139Cys)
c.3989A>G (p.Tyr1330Cys)
c.6443A>G (p.Tyr2148Cys)
n.5113A>G
n.2077A>G
c.6446A>G (p.Tyr2149Cys)
c.6449A>G (p.Tyr2150Cys)
n.6857A>G
c.6653A>G (p.Tyr2218Cys)
c.6536A>G (p.Tyr2179Cys)
c.6539A>G (p.Tyr2180Cys)
n.6642A>G
n.6628A>G
11g.77214611A>TCA381939098MYO7Ac.6563A>T (p.Tyr2188Phe)
c.4364A>T
c.6416A>T (p.Tyr2139Phe)
c.3989A>T (p.Tyr1330Phe)
c.6443A>T (p.Tyr2148Phe)
n.5113A>T
n.2077A>T
c.6446A>T (p.Tyr2149Phe)
c.6449A>T (p.Tyr2150Phe)
n.6857A>T
c.6653A>T (p.Tyr2218Phe)
c.6536A>T (p.Tyr2179Phe)
c.6539A>T (p.Tyr2180Phe)
n.6642A>T
n.6628A>T
 gnomAD v4
11g.77214612C>ACA381939101MYO7Ac.6564C>A (p.Tyr2188Ter)
c.4365C>A
c.6417C>A (p.Tyr2139Ter)
c.3990C>A (p.Tyr1330Ter)
c.6444C>A (p.Tyr2148Ter)
n.5114C>A
n.2078C>A
c.6447C>A (p.Tyr2149Ter)
c.6450C>A (p.Tyr2150Ter)
n.6858C>A
c.6654C>A (p.Tyr2218Ter)
c.6537C>A (p.Tyr2179Ter)
c.6540C>A (p.Tyr2180Ter)
n.6643C>A
n.6629C>A
 gnomAD v4
11g.77214612C>GCA381939103MYO7Ac.6564C>G (p.Tyr2188Ter)
c.4365C>G
c.6417C>G (p.Tyr2139Ter)
c.3990C>G (p.Tyr1330Ter)
c.6444C>G (p.Tyr2148Ter)
n.5114C>G
n.2078C>G
c.6447C>G (p.Tyr2149Ter)
c.6450C>G (p.Tyr2150Ter)
n.6858C>G
c.6654C>G (p.Tyr2218Ter)
c.6537C>G (p.Tyr2179Ter)
c.6540C>G (p.Tyr2180Ter)
n.6643C>G
n.6629C>G
 gnomAD v4
11g.77214612C>TCA475792738MYO7Ac.6564C>T (p.Tyr2188=)
c.4365C>T
c.6417C>T (p.Tyr2139=)
c.3990C>T (p.Tyr1330=)
c.6444C>T (p.Tyr2148=)
n.5114C>T
n.2078C>T
c.6447C>T (p.Tyr2149=)
c.6450C>T (p.Tyr2150=)
n.6858C>T
c.6654C>T (p.Tyr2218=)
c.6537C>T (p.Tyr2179=)
c.6540C>T (p.Tyr2180=)
n.6643C>T
n.6629C>T
 gnomAD v4
11g.77214613A>CCA381939106MYO7Ac.6565A>C (p.Lys2189Gln)
c.4366A>C
c.6418A>C (p.Lys2140Gln)
c.3991A>C (p.Lys1331Gln)
c.6445A>C (p.Lys2149Gln)
n.5115A>C
n.2079A>C
c.6448A>C (p.Lys2150Gln)
c.6451A>C (p.Lys2151Gln)
n.6859A>C
c.6655A>C (p.Lys2219Gln)
c.6538A>C (p.Lys2180Gln)
c.6541A>C (p.Lys2181Gln)
n.6644A>C
n.6630A>C
 ClinVar
11g.77214613A>GCA381939107MYO7Ac.6565A>G (p.Lys2189Glu)
c.4366A>G
c.6418A>G (p.Lys2140Glu)
c.3991A>G (p.Lys1331Glu)
c.6445A>G (p.Lys2149Glu)
n.5115A>G
n.2079A>G
c.6448A>G (p.Lys2150Glu)
c.6451A>G (p.Lys2151Glu)
n.6859A>G
c.6655A>G (p.Lys2219Glu)
c.6538A>G (p.Lys2180Glu)
c.6541A>G (p.Lys2181Glu)
n.6644A>G
n.6630A>G
11g.77214613A>TCA381939110MYO7Ac.6565A>T (p.Lys2189Ter)
c.4366A>T
c.6418A>T (p.Lys2140Ter)
c.3991A>T (p.Lys1331Ter)
c.6445A>T (p.Lys2149Ter)
n.5115A>T
n.2079A>T
c.6448A>T (p.Lys2150Ter)
c.6451A>T (p.Lys2151Ter)
n.6859A>T
c.6655A>T (p.Lys2219Ter)
c.6538A>T (p.Lys2180Ter)
c.6541A>T (p.Lys2181Ter)
n.6644A>T
n.6630A>T
 gnomAD v4
11g.77214614A>CCA381939114MYO7Ac.6566A>C (p.Lys2189Thr)
c.4367A>C
c.6419A>C (p.Lys2140Thr)
c.3992A>C (p.Lys1331Thr)
c.6446A>C (p.Lys2149Thr)
n.5116A>C
n.2080A>C
c.6449A>C (p.Lys2150Thr)
c.6452A>C (p.Lys2151Thr)
n.6860A>C
c.6656A>C (p.Lys2219Thr)
c.6539A>C (p.Lys2180Thr)
c.6542A>C (p.Lys2181Thr)
n.6645A>C
n.6631A>C
11g.77214614A>GCA381939116MYO7Ac.6566A>G (p.Lys2189Arg)
c.4367A>G
c.6419A>G (p.Lys2140Arg)
c.3992A>G (p.Lys1331Arg)
c.6446A>G (p.Lys2149Arg)
n.5116A>G
n.2080A>G
c.6449A>G (p.Lys2150Arg)
c.6452A>G (p.Lys2151Arg)
n.6860A>G
c.6656A>G (p.Lys2219Arg)
c.6539A>G (p.Lys2180Arg)
c.6542A>G (p.Lys2181Arg)
n.6645A>G
n.6631A>G
11g.77214614A>TCA381939118MYO7Ac.6566A>T (p.Lys2189Met)
c.4367A>T
c.6419A>T (p.Lys2140Met)
c.3992A>T (p.Lys1331Met)
c.6446A>T (p.Lys2149Met)
n.5116A>T
n.2080A>T
c.6449A>T (p.Lys2150Met)
c.6452A>T (p.Lys2151Met)
n.6860A>T
c.6656A>T (p.Lys2219Met)
c.6539A>T (p.Lys2180Met)
c.6542A>T (p.Lys2181Met)
n.6645A>T
n.6631A>T
11g.77214615G>ACA475792741MYO7Ac.6567G>A (p.Lys2189=)
c.4368G>A
c.6420G>A (p.Lys2140=)
c.3993G>A (p.Lys1331=)
c.6447G>A (p.Lys2149=)
n.5117G>A
n.2081G>A
c.6450G>A (p.Lys2150=)
c.6453G>A (p.Lys2151=)
n.6861G>A
c.6657G>A (p.Lys2219=)
c.6540G>A (p.Lys2180=)
c.6543G>A (p.Lys2181=)
n.6646G>A
n.6632G>A
11g.77214615G>CCA381939121MYO7Ac.6567G>C (p.Lys2189Asn)
c.4368G>C
c.6420G>C (p.Lys2140Asn)
c.3993G>C (p.Lys1331Asn)
c.6447G>C (p.Lys2149Asn)
n.5117G>C
n.2081G>C
c.6450G>C (p.Lys2150Asn)
c.6453G>C (p.Lys2151Asn)
n.6861G>C
c.6657G>C (p.Lys2219Asn)
c.6540G>C (p.Lys2180Asn)
c.6543G>C (p.Lys2181Asn)
n.6646G>C
n.6632G>C
11g.77214615G>TCA381939123MYO7Ac.6567G>T (p.Lys2189Asn)
c.4368G>T
c.6420G>T (p.Lys2140Asn)
c.3993G>T (p.Lys1331Asn)
c.6447G>T (p.Lys2149Asn)
n.5117G>T
n.2081G>T
c.6450G>T (p.Lys2150Asn)
c.6453G>T (p.Lys2151Asn)
n.6861G>T
c.6657G>T (p.Lys2219Asn)
c.6540G>T (p.Lys2180Asn)
c.6543G>T (p.Lys2181Asn)
n.6646G>T
n.6632G>T
11g.77214616A=CA1984131508MYO7Ac.6568A= (p.Met2190=)
c.4369A=
c.6421A= (p.Met2141=)
c.3994A= (p.Met1332=)
c.6448A= (p.Met2150=)
n.5118A=
n.2082A=
c.6451A= (p.Met2151=)
c.6454A= (p.Met2152=)
n.6862A=
c.6658A= (p.Met2220=)
c.6541A= (p.Met2181=)
c.6544A= (p.Met2182=)
n.6647A=
n.6633A=
11g.77214616A>CCA381939127MYO7Ac.6568A>C (p.Met2190Leu)
c.4369A>C
c.6421A>C (p.Met2141Leu)
c.3994A>C (p.Met1332Leu)
c.6448A>C (p.Met2150Leu)
n.5118A>C
n.2082A>C
c.6451A>C (p.Met2151Leu)
c.6454A>C (p.Met2152Leu)
n.6862A>C
c.6658A>C (p.Met2220Leu)
c.6541A>C (p.Met2181Leu)
c.6544A>C (p.Met2182Leu)
n.6647A>C
n.6633A>C
11g.77214616A>GCA381939131MYO7Ac.6568A>G (p.Met2190Val)
c.4369A>G
c.6421A>G (p.Met2141Val)
c.3994A>G (p.Met1332Val)
c.6448A>G (p.Met2150Val)
n.5118A>G
n.2082A>G
c.6451A>G (p.Met2151Val)
c.6454A>G (p.Met2152Val)
n.6862A>G
c.6658A>G (p.Met2220Val)
c.6541A>G (p.Met2181Val)
c.6544A>G (p.Met2182Val)
n.6647A>G
n.6633A>G
 ClinVar dbSNP
11g.77214616A>TCA381939129MYO7Ac.6568A>T (p.Met2190Leu)
c.4369A>T
c.6421A>T (p.Met2141Leu)
c.3994A>T (p.Met1332Leu)
c.6448A>T (p.Met2150Leu)
n.5118A>T
n.2082A>T
c.6451A>T (p.Met2151Leu)
c.6454A>T (p.Met2152Leu)
n.6862A>T
c.6658A>T (p.Met2220Leu)
c.6541A>T (p.Met2181Leu)
c.6544A>T (p.Met2182Leu)
n.6647A>T
n.6633A>T
 gnomAD v4
11g.77214617T>ACA381939132MYO7Ac.6569T>A (p.Met2190Lys)
c.4370T>A
c.6422T>A (p.Met2141Lys)
c.3995T>A (p.Met1332Lys)
c.6449T>A (p.Met2150Lys)
n.5119T>A
n.2083T>A
c.6452T>A (p.Met2151Lys)
c.6455T>A (p.Met2152Lys)
n.6863T>A
c.6659T>A (p.Met2220Lys)
c.6542T>A (p.Met2181Lys)
c.6545T>A (p.Met2182Lys)
n.6648T>A
n.6634T>A
11g.77214617T>CCA381939134MYO7Ac.6569T>C (p.Met2190Thr)
c.4370T>C
c.6422T>C (p.Met2141Thr)
c.3995T>C (p.Met1332Thr)
c.6449T>C (p.Met2150Thr)
n.5119T>C
n.2083T>C
c.6452T>C (p.Met2151Thr)
c.6455T>C (p.Met2152Thr)
n.6863T>C
c.6659T>C (p.Met2220Thr)
c.6542T>C (p.Met2181Thr)
c.6545T>C (p.Met2182Thr)
n.6648T>C
n.6634T>C
 dbSNP
11g.77214617T>GCA381939136MYO7Ac.6569T>G (p.Met2190Arg)
c.4370T>G
c.6422T>G (p.Met2141Arg)
c.3995T>G (p.Met1332Arg)
c.6449T>G (p.Met2150Arg)
n.5119T>G
n.2083T>G
c.6452T>G (p.Met2151Arg)
c.6455T>G (p.Met2152Arg)
n.6863T>G
c.6659T>G (p.Met2220Arg)
c.6542T>G (p.Met2181Arg)
c.6545T>G (p.Met2182Arg)
n.6648T>G
n.6634T>G
11g.77214617T=CA1984131509MYO7Ac.6569T= (p.Met2190=)
c.4370T=
c.6422T= (p.Met2141=)
c.3995T= (p.Met1332=)
c.6449T= (p.Met2150=)
n.5119T=
n.2083T=
c.6452T= (p.Met2151=)
c.6455T= (p.Met2152=)
n.6863T=
c.6659T= (p.Met2220=)
c.6542T= (p.Met2181=)
c.6545T= (p.Met2182=)
n.6648T=
n.6634T=
11g.77214618G>ACA132441MYO7Ac.6570G>A (p.Met2190Ile)
c.4371G>A
c.6423G>A (p.Met2141Ile)
c.3996G>A (p.Met1332Ile)
c.6450G>A (p.Met2150Ile)
n.5120G>A
n.2084G>A
c.6453G>A (p.Met2151Ile)
c.6456G>A (p.Met2152Ile)
n.6864G>A
c.6660G>A (p.Met2220Ile)
c.6543G>A (p.Met2181Ile)
c.6546G>A (p.Met2182Ile)
n.6649G>A
n.6635G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77214618G>CCA381939143MYO7Ac.6570G>C (p.Met2190Ile)
c.4371G>C
c.6423G>C (p.Met2141Ile)
c.3996G>C (p.Met1332Ile)
c.6450G>C (p.Met2150Ile)
n.5120G>C
n.2084G>C
c.6453G>C (p.Met2151Ile)
c.6456G>C (p.Met2152Ile)
n.6864G>C
c.6660G>C (p.Met2220Ile)
c.6543G>C (p.Met2181Ile)
c.6546G>C (p.Met2182Ile)
n.6649G>C
n.6635G>C
11g.77214618G=CA1984131510MYO7Ac.6570G= (p.Met2190=)
c.4371G=
c.6423G= (p.Met2141=)
c.3996G= (p.Met1332=)
c.6450G= (p.Met2150=)
n.5120G=
n.2084G=
c.6453G= (p.Met2151=)
c.6456G= (p.Met2152=)
n.6864G=
c.6660G= (p.Met2220=)
c.6543G= (p.Met2181=)
c.6546G= (p.Met2182=)
n.6649G=
n.6635G=
11g.77214618G>TCA381939145MYO7Ac.6570G>T (p.Met2190Ile)
c.4371G>T
c.6423G>T (p.Met2141Ile)
c.3996G>T (p.Met1332Ile)
c.6450G>T (p.Met2150Ile)
n.5120G>T
n.2084G>T
c.6453G>T (p.Met2151Ile)
c.6456G>T (p.Met2152Ile)
n.6864G>T
c.6660G>T (p.Met2220Ile)
c.6543G>T (p.Met2181Ile)
c.6546G>T (p.Met2182Ile)
n.6649G>T
n.6635G>T
 gnomAD v4 COSMIC
11g.77214619G>ACA381939147MYO7Ac.6571G>A (p.Asp2191Asn)
c.4372G>A
c.6424G>A (p.Asp2142Asn)
c.3997G>A (p.Asp1333Asn)
c.6451G>A (p.Asp2151Asn)
n.5121G>A
n.2085G>A
c.6454G>A (p.Asp2152Asn)
c.6457G>A (p.Asp2153Asn)
n.6865G>A
c.6661G>A (p.Asp2221Asn)
c.6544G>A (p.Asp2182Asn)
c.6547G>A (p.Asp2183Asn)
n.6650G>A
n.6636G>A
 gnomAD v4
11g.77214619G>CCA381939150MYO7Ac.6571G>C (p.Asp2191His)
c.4372G>C
c.6424G>C (p.Asp2142His)
c.3997G>C (p.Asp1333His)
c.6451G>C (p.Asp2151His)
n.5121G>C
n.2085G>C
c.6454G>C (p.Asp2152His)
c.6457G>C (p.Asp2153His)
n.6865G>C
c.6661G>C (p.Asp2221His)
c.6544G>C (p.Asp2182His)
c.6547G>C (p.Asp2183His)
n.6650G>C
n.6636G>C
11g.77214619G>TCA381939152MYO7Ac.6571G>T (p.Asp2191Tyr)
c.4372G>T
c.6424G>T (p.Asp2142Tyr)
c.3997G>T (p.Asp1333Tyr)
c.6451G>T (p.Asp2151Tyr)
n.5121G>T
n.2085G>T
c.6454G>T (p.Asp2152Tyr)
c.6457G>T (p.Asp2153Tyr)
n.6865G>T
c.6661G>T (p.Asp2221Tyr)
c.6544G>T (p.Asp2182Tyr)
c.6547G>T (p.Asp2183Tyr)
n.6650G>T
n.6636G>T
 gnomAD v4
11g.77214619_77214620delinsGACA1984131511MYO7Ac.6571_6572delinsGA (p.Asp2191=)
c.4372_4373delinsGA
c.6424_6425delinsGA (p.Asp2142=)
c.3997_3998delinsGA (p.Asp1333=)
c.6451_6452delinsGA (p.Asp2151=)
n.5121_5122delinsGA
n.2085_2086delinsGA
c.6454_6455delinsGA (p.Asp2152=)
c.6457_6458delinsGA (p.Asp2153=)
n.6865_6866delinsGA
c.6661_6662delinsGA (p.Asp2221=)
c.6544_6545delinsGA (p.Asp2182=)
c.6547_6548delinsGA (p.Asp2183=)
n.6650_6651delinsGA
n.6636_6637delinsGA
11g.77214620delCA6199130MYO7Ac.6572del (p.Asp2191ValfsTer4)
c.4373del
c.6425del (p.Asp2142ValfsTer4)
c.3998del (p.Asp1333ValfsTer4)
c.6452del (p.Asp2151ValfsTer4)
n.5122del
n.2086del
c.6455del (p.Asp2152ValfsTer4)
c.6458del (p.Asp2153ValfsTer4)
n.6866del
c.6662del (p.Asp2221ValfsTer4)
c.6545del (p.Asp2182ValfsTer4)
c.6548del (p.Asp2183ValfsTer4)
n.6651del
n.6637del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77214620A>CCA381939157MYO7Ac.6572A>C (p.Asp2191Ala)
c.4373A>C
c.6425A>C (p.Asp2142Ala)
c.3998A>C (p.Asp1333Ala)
c.6452A>C (p.Asp2151Ala)
n.5122A>C
n.2086A>C
c.6455A>C (p.Asp2152Ala)
c.6458A>C (p.Asp2153Ala)
n.6866A>C
c.6662A>C (p.Asp2221Ala)
c.6545A>C (p.Asp2182Ala)
c.6548A>C (p.Asp2183Ala)
n.6651A>C
n.6637A>C
11g.77214620A>GCA381939155MYO7Ac.6572A>G (p.Asp2191Gly)
c.4373A>G
c.6425A>G (p.Asp2142Gly)
c.3998A>G (p.Asp1333Gly)
c.6452A>G (p.Asp2151Gly)
n.5122A>G
n.2086A>G
c.6455A>G (p.Asp2152Gly)
c.6458A>G (p.Asp2153Gly)
n.6866A>G
c.6662A>G (p.Asp2221Gly)
c.6545A>G (p.Asp2182Gly)
c.6548A>G (p.Asp2183Gly)
n.6651A>G
n.6637A>G
 gnomAD v4
11g.77214620A>TCA381939160MYO7Ac.6572A>T (p.Asp2191Val)
c.4373A>T
c.6425A>T (p.Asp2142Val)
c.3998A>T (p.Asp1333Val)
c.6452A>T (p.Asp2151Val)
n.5122A>T
n.2086A>T
c.6455A>T (p.Asp2152Val)
c.6458A>T (p.Asp2153Val)
n.6866A>T
c.6662A>T (p.Asp2221Val)
c.6545A>T (p.Asp2182Val)
c.6548A>T (p.Asp2183Val)
n.6651A>T
n.6637A>T
11g.77214621T>ACA381939163MYO7Ac.6573T>A (p.Asp2191Glu)
c.4374T>A
c.6426T>A (p.Asp2142Glu)
c.3999T>A (p.Asp1333Glu)
c.6453T>A (p.Asp2151Glu)
n.5123T>A
n.2087T>A
c.6456T>A (p.Asp2152Glu)
c.6459T>A (p.Asp2153Glu)
n.6867T>A
c.6663T>A (p.Asp2221Glu)
c.6546T>A (p.Asp2182Glu)
c.6549T>A (p.Asp2183Glu)
n.6652T>A
n.6638T>A
11g.77214621T>CCA475792747MYO7Ac.6573T>C (p.Asp2191=)
c.4374T>C
c.6426T>C (p.Asp2142=)
c.3999T>C (p.Asp1333=)
c.6453T>C (p.Asp2151=)
n.5123T>C
n.2087T>C
c.6456T>C (p.Asp2152=)
c.6459T>C (p.Asp2153=)
n.6867T>C
c.6663T>C (p.Asp2221=)
c.6546T>C (p.Asp2182=)
c.6549T>C (p.Asp2183=)
n.6652T>C
n.6638T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77214621T>GCA381939165MYO7Ac.6573T>G (p.Asp2191Glu)
c.4374T>G
c.6426T>G (p.Asp2142Glu)
c.3999T>G (p.Asp1333Glu)
c.6453T>G (p.Asp2151Glu)
n.5123T>G
n.2087T>G
c.6456T>G (p.Asp2152Glu)
c.6459T>G (p.Asp2153Glu)
n.6867T>G
c.6663T>G (p.Asp2221Glu)
c.6546T>G (p.Asp2182Glu)
c.6549T>G (p.Asp2183Glu)
n.6652T>G
n.6638T>G
 gnomAD v4
11g.77214621T=CA1984131512MYO7Ac.6573T= (p.Asp2191=)
c.4374T=
c.6426T= (p.Asp2142=)
c.3999T= (p.Asp1333=)
c.6453T= (p.Asp2151=)
n.5123T=
n.2087T=
c.6456T= (p.Asp2152=)
c.6459T= (p.Asp2153=)
n.6867T=
c.6663T= (p.Asp2221=)
c.6546T= (p.Asp2182=)
c.6549T= (p.Asp2183=)
n.6652T=
n.6638T=
11g.77214622G>ACA381939169MYO7Ac.6574G>A (p.Asp2192Asn)
c.4375G>A
c.6427G>A (p.Asp2143Asn)
c.4000G>A (p.Asp1334Asn)
c.6454G>A (p.Asp2152Asn)
n.5124G>A
n.2088G>A
c.6457G>A (p.Asp2153Asn)
c.6460G>A (p.Asp2154Asn)
n.6868G>A
c.6664G>A (p.Asp2222Asn)
c.6547G>A (p.Asp2183Asn)
c.6550G>A (p.Asp2184Asn)
n.6653G>A
n.6639G>A
 gnomAD v4
11g.77214622G>CCA381939171MYO7Ac.6574G>C (p.Asp2192His)
c.4375G>C
c.6427G>C (p.Asp2143His)
c.4000G>C (p.Asp1334His)
c.6454G>C (p.Asp2152His)
n.5124G>C
n.2088G>C
c.6457G>C (p.Asp2153His)
c.6460G>C (p.Asp2154His)
n.6868G>C
c.6664G>C (p.Asp2222His)
c.6547G>C (p.Asp2183His)
c.6550G>C (p.Asp2184His)
n.6653G>C
n.6639G>C
 gnomAD v4
11g.77214622G>TCA381939173MYO7Ac.6574G>T (p.Asp2192Tyr)
c.4375G>T
c.6427G>T (p.Asp2143Tyr)
c.4000G>T (p.Asp1334Tyr)
c.6454G>T (p.Asp2152Tyr)
n.5124G>T
n.2088G>T
c.6457G>T (p.Asp2153Tyr)
c.6460G>T (p.Asp2154Tyr)
n.6868G>T
c.6664G>T (p.Asp2222Tyr)
c.6547G>T (p.Asp2183Tyr)
c.6550G>T (p.Asp2184Tyr)
n.6653G>T
n.6639G>T
11g.77214623A=CA1984131513MYO7Ac.6575A= (p.Asp2192=)
c.4376A=
c.6428A= (p.Asp2143=)
c.4001A= (p.Asp1334=)
c.6455A= (p.Asp2152=)
n.5125A=
n.2089A=
c.6458A= (p.Asp2153=)
c.6461A= (p.Asp2154=)
n.6869A=
c.6665A= (p.Asp2222=)
c.6548A= (p.Asp2183=)
c.6551A= (p.Asp2184=)
n.6654A=
n.6640A=
11g.77214623A>CCA381939179MYO7Ac.6575A>C (p.Asp2192Ala)
c.4376A>C
c.6428A>C (p.Asp2143Ala)
c.4001A>C (p.Asp1334Ala)
c.6455A>C (p.Asp2152Ala)
n.5125A>C
n.2089A>C
c.6458A>C (p.Asp2153Ala)
c.6461A>C (p.Asp2154Ala)
n.6869A>C
c.6665A>C (p.Asp2222Ala)
c.6548A>C (p.Asp2183Ala)
c.6551A>C (p.Asp2184Ala)
n.6654A>C
n.6640A>C
 dbSNP
11g.77214623A>GCA381939176MYO7Ac.6575A>G (p.Asp2192Gly)
c.4376A>G
c.6428A>G (p.Asp2143Gly)
c.4001A>G (p.Asp1334Gly)
c.6455A>G (p.Asp2152Gly)
n.5125A>G
n.2089A>G
c.6458A>G (p.Asp2153Gly)
c.6461A>G (p.Asp2154Gly)
n.6869A>G
c.6665A>G (p.Asp2222Gly)
c.6548A>G (p.Asp2183Gly)
c.6551A>G (p.Asp2184Gly)
n.6654A>G
n.6640A>G
11g.77214623A>TCA381939177MYO7Ac.6575A>T (p.Asp2192Val)
c.4376A>T
c.6428A>T (p.Asp2143Val)
c.4001A>T (p.Asp1334Val)
c.6455A>T (p.Asp2152Val)
n.5125A>T
n.2089A>T
c.6458A>T (p.Asp2153Val)
c.6461A>T (p.Asp2154Val)
n.6869A>T
c.6665A>T (p.Asp2222Val)
c.6548A>T (p.Asp2183Val)
c.6551A>T (p.Asp2184Val)
n.6654A>T
n.6640A>T
 gnomAD v4
11g.77214624C>ACA381939182MYO7Ac.6576C>A (p.Asp2192Glu)
c.4377C>A
c.6429C>A (p.Asp2143Glu)
c.4002C>A (p.Asp1334Glu)
c.6456C>A (p.Asp2152Glu)
n.5126C>A
n.2090C>A
c.6459C>A (p.Asp2153Glu)
c.6462C>A (p.Asp2154Glu)
n.6870C>A
c.6666C>A (p.Asp2222Glu)
c.6549C>A (p.Asp2183Glu)
c.6552C>A (p.Asp2184Glu)
n.6655C>A
n.6641C>A
 gnomAD v4
11g.77214624C=CA1984131514MYO7Ac.6576C= (p.Asp2192=)
c.4377C=
c.6429C= (p.Asp2143=)
c.4002C= (p.Asp1334=)
c.6456C= (p.Asp2152=)
n.5126C=
n.2090C=
c.6459C= (p.Asp2153=)
c.6462C= (p.Asp2154=)
n.6870C=
c.6666C= (p.Asp2222=)
c.6549C= (p.Asp2183=)
c.6552C= (p.Asp2184=)
n.6655C=
n.6641C=
11g.77214624C>GCA381939184MYO7Ac.6576C>G (p.Asp2192Glu)
c.4377C>G
c.6429C>G (p.Asp2143Glu)
c.4002C>G (p.Asp1334Glu)
c.6456C>G (p.Asp2152Glu)
n.5126C>G
n.2090C>G
c.6459C>G (p.Asp2153Glu)
c.6462C>G (p.Asp2154Glu)
n.6870C>G
c.6666C>G (p.Asp2222Glu)
c.6549C>G (p.Asp2183Glu)
c.6552C>G (p.Asp2184Glu)
n.6655C>G
n.6641C>G
11g.77214624C>TCA475792752MYO7Ac.6576C>T (p.Asp2192=)
c.4377C>T
c.6429C>T (p.Asp2143=)
c.4002C>T (p.Asp1334=)
c.6456C>T (p.Asp2152=)
n.5126C>T
n.2090C>T
c.6459C>T (p.Asp2153=)
c.6462C>T (p.Asp2154=)
n.6870C>T
c.6666C>T (p.Asp2222=)
c.6549C>T (p.Asp2183=)
c.6552C>T (p.Asp2184=)
n.6655C>T
n.6641C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77214625C>ACA381939188MYO7Ac.6577C>A (p.Leu2193Ile)
c.4378C>A
c.6430C>A (p.Leu2144Ile)
c.4003C>A (p.Leu1335Ile)
c.6457C>A (p.Leu2153Ile)
n.5127C>A
n.2091C>A
c.6460C>A (p.Leu2154Ile)
c.6463C>A (p.Leu2155Ile)
n.6871C>A
c.6667C>A (p.Leu2223Ile)
c.6550C>A (p.Leu2184Ile)
c.6553C>A (p.Leu2185Ile)
n.6656C>A
n.6642C>A
 gnomAD v4
11g.77214625C=CA1984131515MYO7Ac.6577C= (p.Leu2193=)
c.4378C=
c.6430C= (p.Leu2144=)
c.4003C= (p.Leu1335=)
c.6457C= (p.Leu2153=)
n.5127C=
n.2091C=
c.6460C= (p.Leu2154=)
c.6463C= (p.Leu2155=)
n.6871C=
c.6667C= (p.Leu2223=)
c.6550C= (p.Leu2184=)
c.6553C= (p.Leu2185=)
n.6656C=
n.6642C=
11g.77214625C>GCA381939190MYO7Ac.6577C>G (p.Leu2193Val)
c.4378C>G
c.6430C>G (p.Leu2144Val)
c.4003C>G (p.Leu1335Val)
c.6457C>G (p.Leu2153Val)
n.5127C>G
n.2091C>G
c.6460C>G (p.Leu2154Val)
c.6463C>G (p.Leu2155Val)
n.6871C>G
c.6667C>G (p.Leu2223Val)
c.6550C>G (p.Leu2184Val)
c.6553C>G (p.Leu2185Val)
n.6656C>G
n.6642C>G
11g.77214625C>TCA132443MYO7Ac.6577C>T (p.Leu2193Phe)
c.4378C>T
c.6430C>T (p.Leu2144Phe)
c.4003C>T (p.Leu1335Phe)
c.6457C>T (p.Leu2153Phe)
n.5127C>T
n.2091C>T
c.6460C>T (p.Leu2154Phe)
c.6463C>T (p.Leu2155Phe)
n.6871C>T
c.6667C>T (p.Leu2223Phe)
c.6550C>T (p.Leu2184Phe)
c.6553C>T (p.Leu2185Phe)
n.6656C>T
n.6642C>T
 ClinVar dbSNP gnomAD v4
11g.77214626T>ACA381939193MYO7Ac.6578T>A (p.Leu2193His)
c.4379T>A
c.6431T>A (p.Leu2144His)
c.4004T>A (p.Leu1335His)
c.6458T>A (p.Leu2153His)
n.5128T>A
n.2092T>A
c.6461T>A (p.Leu2154His)
c.6464T>A (p.Leu2155His)
n.6872T>A
c.6668T>A (p.Leu2223His)
c.6551T>A (p.Leu2184His)
c.6554T>A (p.Leu2185His)
n.6657T>A
n.6643T>A
 gnomAD v4
11g.77214626T>CCA381939198MYO7Ac.6578T>C (p.Leu2193Pro)
c.4379T>C
c.6431T>C (p.Leu2144Pro)
c.4004T>C (p.Leu1335Pro)
c.6458T>C (p.Leu2153Pro)
n.5128T>C
n.2092T>C
c.6461T>C (p.Leu2154Pro)
c.6464T>C (p.Leu2155Pro)
n.6872T>C
c.6668T>C (p.Leu2223Pro)
c.6551T>C (p.Leu2184Pro)
c.6554T>C (p.Leu2185Pro)
n.6657T>C
n.6643T>C
 gnomAD v4
11g.77214626T>GCA381939196MYO7Ac.6578T>G (p.Leu2193Arg)
c.4379T>G
c.6431T>G (p.Leu2144Arg)
c.4004T>G (p.Leu1335Arg)
c.6458T>G (p.Leu2153Arg)
n.5128T>G
n.2092T>G
c.6461T>G (p.Leu2154Arg)
c.6464T>G (p.Leu2155Arg)
n.6872T>G
c.6668T>G (p.Leu2223Arg)
c.6551T>G (p.Leu2184Arg)
c.6554T>G (p.Leu2185Arg)
n.6657T>G
n.6643T>G
11g.77214627C>ACA475792760MYO7Ac.6579C>A (p.Leu2193=)
c.4380C>A
c.6432C>A (p.Leu2144=)
c.4005C>A (p.Leu1335=)
c.6459C>A (p.Leu2153=)
n.5129C>A
n.2093C>A
c.6462C>A (p.Leu2154=)
c.6465C>A (p.Leu2155=)
n.6873C>A
c.6669C>A (p.Leu2223=)
c.6552C>A (p.Leu2184=)
c.6555C>A (p.Leu2185=)
n.6658C>A
n.6644C>A
 gnomAD v4
11g.77214627C>GCA475792759MYO7Ac.6579C>G (p.Leu2193=)
c.4380C>G
c.6432C>G (p.Leu2144=)
c.4005C>G (p.Leu1335=)
c.6459C>G (p.Leu2153=)
n.5129C>G
n.2093C>G
c.6462C>G (p.Leu2154=)
c.6465C>G (p.Leu2155=)
n.6873C>G
c.6669C>G (p.Leu2223=)
c.6552C>G (p.Leu2184=)
c.6555C>G (p.Leu2185=)
n.6658C>G
n.6644C>G
11g.77214627C>TCA475792757MYO7Ac.6579C>T (p.Leu2193=)
c.4380C>T
c.6432C>T (p.Leu2144=)
c.4005C>T (p.Leu1335=)
c.6459C>T (p.Leu2153=)
n.5129C>T
n.2093C>T
c.6462C>T (p.Leu2154=)
c.6465C>T (p.Leu2155=)
n.6873C>T
c.6669C>T (p.Leu2223=)
c.6552C>T (p.Leu2184=)
c.6555C>T (p.Leu2185=)
n.6658C>T
n.6644C>T
 ClinVar dbSNP gnomAD v4
11g.77214628C>ACA381939200MYO7Ac.6580C>A (p.Leu2194Met)
c.4381C>A
c.6433C>A (p.Leu2145Met)
c.4006C>A (p.Leu1336Met)
c.6460C>A (p.Leu2154Met)
n.5130C>A
n.2094C>A
c.6463C>A (p.Leu2155Met)
c.6466C>A (p.Leu2156Met)
n.6874C>A
c.6670C>A (p.Leu2224Met)
c.6553C>A (p.Leu2185Met)
c.6556C>A (p.Leu2186Met)
n.6659C>A
n.6645C>A
 gnomAD v4
11g.77214628C>GCA381939202MYO7Ac.6580C>G (p.Leu2194Val)
c.4381C>G
c.6433C>G (p.Leu2145Val)
c.4006C>G (p.Leu1336Val)
c.6460C>G (p.Leu2154Val)
n.5130C>G
n.2094C>G
c.6463C>G (p.Leu2155Val)
c.6466C>G (p.Leu2156Val)
n.6874C>G
c.6670C>G (p.Leu2224Val)
c.6553C>G (p.Leu2185Val)
c.6556C>G (p.Leu2186Val)
n.6659C>G
n.6645C>G
11g.77214628C>TCA475792763MYO7Ac.6580C>T (p.Leu2194=)
c.4381C>T
c.6433C>T (p.Leu2145=)
c.4006C>T (p.Leu1336=)
c.6460C>T (p.Leu2154=)
n.5130C>T
n.2094C>T
c.6463C>T (p.Leu2155=)
c.6466C>T (p.Leu2156=)
n.6874C>T
c.6670C>T (p.Leu2224=)
c.6553C>T (p.Leu2185=)
c.6556C>T (p.Leu2186=)
n.6659C>T
n.6645C>T
11g.77214629T>ACA381939205MYO7Ac.6581T>A (p.Leu2194Gln)
c.4382T>A
c.6434T>A (p.Leu2145Gln)
c.4007T>A (p.Leu1336Gln)
c.6461T>A (p.Leu2154Gln)
n.5131T>A
n.2095T>A
c.6464T>A (p.Leu2155Gln)
c.6467T>A (p.Leu2156Gln)
n.6875T>A
c.6671T>A (p.Leu2224Gln)
c.6554T>A (p.Leu2185Gln)
c.6557T>A (p.Leu2186Gln)
n.6660T>A
n.6646T>A
11g.77214629T>CCA381939207MYO7Ac.6581T>C (p.Leu2194Pro)
c.4382T>C
c.6434T>C (p.Leu2145Pro)
c.4007T>C (p.Leu1336Pro)
c.6461T>C (p.Leu2154Pro)
n.5131T>C
n.2095T>C
c.6464T>C (p.Leu2155Pro)
c.6467T>C (p.Leu2156Pro)
n.6875T>C
c.6671T>C (p.Leu2224Pro)
c.6554T>C (p.Leu2185Pro)
c.6557T>C (p.Leu2186Pro)
n.6660T>C
n.6646T>C
 gnomAD v4
11g.77214629T>GCA381939210MYO7Ac.6581T>G (p.Leu2194Arg)
c.4382T>G
c.6434T>G (p.Leu2145Arg)
c.4007T>G (p.Leu1336Arg)
c.6461T>G (p.Leu2154Arg)
n.5131T>G
n.2095T>G
c.6464T>G (p.Leu2155Arg)
c.6467T>G (p.Leu2156Arg)
n.6875T>G
c.6671T>G (p.Leu2224Arg)
c.6554T>G (p.Leu2185Arg)
c.6557T>G (p.Leu2186Arg)
n.6660T>G
n.6646T>G
11g.77214630G>ACA475792765MYO7Ac.6582G>A (p.Leu2194=)
c.4383G>A
c.6435G>A (p.Leu2145=)
c.4008G>A (p.Leu1336=)
c.6462G>A (p.Leu2154=)
n.5132G>A
n.2096G>A
c.6465G>A (p.Leu2155=)
c.6468G>A (p.Leu2156=)
n.6876G>A
c.6672G>A (p.Leu2224=)
c.6555G>A (p.Leu2185=)
c.6558G>A (p.Leu2186=)
n.6661G>A
n.6647G>A
 ClinVar
11g.77214630G>CCA475792766MYO7Ac.6582G>C (p.Leu2194=)
c.4383G>C
c.6435G>C (p.Leu2145=)
c.4008G>C (p.Leu1336=)
c.6462G>C (p.Leu2154=)
n.5132G>C
n.2096G>C
c.6465G>C (p.Leu2155=)
c.6468G>C (p.Leu2156=)
n.6876G>C
c.6672G>C (p.Leu2224=)
c.6555G>C (p.Leu2185=)
c.6558G>C (p.Leu2186=)
n.6661G>C
n.6647G>C
11g.77214630G>TCA475792767MYO7Ac.6582G>T (p.Leu2194=)
c.4383G>T
c.6435G>T (p.Leu2145=)
c.4008G>T (p.Leu1336=)
c.6462G>T (p.Leu2154=)
n.5132G>T
n.2096G>T
c.6465G>T (p.Leu2155=)
c.6468G>T (p.Leu2156=)
n.6876G>T
c.6672G>T (p.Leu2224=)
c.6555G>T (p.Leu2185=)
c.6558G>T (p.Leu2186=)
n.6661G>T
n.6647G>T
 gnomAD v4 COSMIC
11g.77214631A>CCA381939213MYO7Ac.6583A>C (p.Thr2195Pro)
c.4384A>C
c.6436A>C (p.Thr2146Pro)
c.4009A>C (p.Thr1337Pro)
c.6463A>C (p.Thr2155Pro)
n.5133A>C
n.2097A>C
c.6466A>C (p.Thr2156Pro)
c.6469A>C (p.Thr2157Pro)
n.6877A>C
c.6673A>C (p.Thr2225Pro)
c.6556A>C (p.Thr2186Pro)
c.6559A>C (p.Thr2187Pro)
n.6662A>C
n.6648A>C
11g.77214631A>GCA381939215MYO7Ac.6583A>G (p.Thr2195Ala)
c.4384A>G
c.6436A>G (p.Thr2146Ala)
c.4009A>G (p.Thr1337Ala)
c.6463A>G (p.Thr2155Ala)
n.5133A>G
n.2097A>G
c.6466A>G (p.Thr2156Ala)
c.6469A>G (p.Thr2157Ala)
n.6877A>G
c.6673A>G (p.Thr2225Ala)
c.6556A>G (p.Thr2186Ala)
c.6559A>G (p.Thr2187Ala)
n.6662A>G
n.6648A>G
 gnomAD v4
11g.77214631A>TCA381939217MYO7Ac.6583A>T (p.Thr2195Ser)
c.4384A>T
c.6436A>T (p.Thr2146Ser)
c.4009A>T (p.Thr1337Ser)
c.6463A>T (p.Thr2155Ser)
n.5133A>T
n.2097A>T
c.6466A>T (p.Thr2156Ser)
c.6469A>T (p.Thr2157Ser)
n.6877A>T
c.6673A>T (p.Thr2225Ser)
c.6556A>T (p.Thr2186Ser)
c.6559A>T (p.Thr2187Ser)
n.6662A>T
n.6648A>T
11g.77214632C>ACA381939221MYO7Ac.6584C>A (p.Thr2195Asn)
c.4385C>A
c.6437C>A (p.Thr2146Asn)
c.4010C>A (p.Thr1337Asn)
c.6464C>A (p.Thr2155Asn)
n.5134C>A
n.2098C>A
c.6467C>A (p.Thr2156Asn)
c.6470C>A (p.Thr2157Asn)
n.6878C>A
c.6674C>A (p.Thr2225Asn)
c.6557C>A (p.Thr2186Asn)
c.6560C>A (p.Thr2187Asn)
n.6663C>A
n.6649C>A
 gnomAD v4
11g.77214632C>GCA381939223MYO7Ac.6584C>G (p.Thr2195Ser)
c.4385C>G
c.6437C>G (p.Thr2146Ser)
c.4010C>G (p.Thr1337Ser)
c.6464C>G (p.Thr2155Ser)
n.5134C>G
n.2098C>G
c.6467C>G (p.Thr2156Ser)
c.6470C>G (p.Thr2157Ser)
n.6878C>G
c.6674C>G (p.Thr2225Ser)
c.6557C>G (p.Thr2186Ser)
c.6560C>G (p.Thr2187Ser)
n.6663C>G
n.6649C>G
 gnomAD v4
11g.77214632C>TCA381939225MYO7Ac.6584C>T (p.Thr2195Ile)
c.4385C>T
c.6437C>T (p.Thr2146Ile)
c.4010C>T (p.Thr1337Ile)
c.6464C>T (p.Thr2155Ile)
n.5134C>T
n.2098C>T
c.6467C>T (p.Thr2156Ile)
c.6470C>T (p.Thr2157Ile)
n.6878C>T
c.6674C>T (p.Thr2225Ile)
c.6557C>T (p.Thr2186Ile)
c.6560C>T (p.Thr2187Ile)
n.6663C>T
n.6649C>T
11g.77214633T>ACA475792771MYO7Ac.6585T>A (p.Thr2195=)
c.4386T>A
c.6438T>A (p.Thr2146=)
c.4011T>A (p.Thr1337=)
c.6465T>A (p.Thr2155=)
n.5135T>A
n.2099T>A
c.6468T>A (p.Thr2156=)
c.6471T>A (p.Thr2157=)
n.6879T>A
c.6675T>A (p.Thr2225=)
c.6558T>A (p.Thr2186=)
c.6561T>A (p.Thr2187=)
n.6664T>A
n.6650T>A
11g.77214633T>CCA475792774MYO7Ac.6585T>C (p.Thr2195=)
c.4386T>C
c.6438T>C (p.Thr2146=)
c.4011T>C (p.Thr1337=)
c.6465T>C (p.Thr2155=)
n.5135T>C
n.2099T>C
c.6468T>C (p.Thr2156=)
c.6471T>C (p.Thr2157=)
n.6879T>C
c.6675T>C (p.Thr2225=)
c.6558T>C (p.Thr2186=)
c.6561T>C (p.Thr2187=)
n.6664T>C
n.6650T>C
 gnomAD v4
11g.77214633T>GCA475792773MYO7Ac.6585T>G (p.Thr2195=)
c.4386T>G
c.6438T>G (p.Thr2146=)
c.4011T>G (p.Thr1337=)
c.6465T>G (p.Thr2155=)
n.5135T>G
n.2099T>G
c.6468T>G (p.Thr2156=)
c.6471T>G (p.Thr2157=)
n.6879T>G
c.6675T>G (p.Thr2225=)
c.6558T>G (p.Thr2186=)
c.6561T>G (p.Thr2187=)
n.6664T>G
n.6650T>G
11g.77214634T>ACA381939232MYO7Ac.6586T>A (p.Ser2196Thr)
c.4387T>A
c.6439T>A (p.Ser2147Thr)
c.4012T>A (p.Ser1338Thr)
c.6466T>A (p.Ser2156Thr)
n.5136T>A
n.2100T>A
c.6469T>A (p.Ser2157Thr)
c.6472T>A (p.Ser2158Thr)
n.6880T>A
c.6676T>A (p.Ser2226Thr)
c.6559T>A (p.Ser2187Thr)
c.6562T>A (p.Ser2188Thr)
n.6665T>A
n.6651T>A
11g.77214634T>CCA381939234MYO7Ac.6586T>C (p.Ser2196Pro)
c.4387T>C
c.6439T>C (p.Ser2147Pro)
c.4012T>C (p.Ser1338Pro)
c.6466T>C (p.Ser2156Pro)
n.5136T>C
n.2100T>C
c.6469T>C (p.Ser2157Pro)
c.6472T>C (p.Ser2158Pro)
n.6880T>C
c.6676T>C (p.Ser2226Pro)
c.6559T>C (p.Ser2187Pro)
c.6562T>C (p.Ser2188Pro)
n.6665T>C
n.6651T>C
 gnomAD v4
11g.77214634T>GCA381939229MYO7Ac.6586T>G (p.Ser2196Ala)
c.4387T>G
c.6439T>G (p.Ser2147Ala)
c.4012T>G (p.Ser1338Ala)
c.6466T>G (p.Ser2156Ala)
n.5136T>G
n.2100T>G
c.6469T>G (p.Ser2157Ala)
c.6472T>G (p.Ser2158Ala)
n.6880T>G
c.6676T>G (p.Ser2226Ala)
c.6559T>G (p.Ser2187Ala)
c.6562T>G (p.Ser2188Ala)
n.6665T>G
n.6651T>G
11g.77214635C>ACA381939242MYO7Ac.6587C>A (p.Ser2196Tyr)
c.4388C>A
c.6440C>A (p.Ser2147Tyr)
c.4013C>A (p.Ser1338Tyr)
c.6467C>A (p.Ser2156Tyr)
n.5137C>A
n.2101C>A
c.6470C>A (p.Ser2157Tyr)
c.6473C>A (p.Ser2158Tyr)
n.6881C>A
c.6677C>A (p.Ser2226Tyr)
c.6560C>A (p.Ser2187Tyr)
c.6563C>A (p.Ser2188Tyr)
n.6666C>A
n.6652C>A
 gnomAD v4
11g.77214635C>GCA381939238MYO7Ac.6587C>G (p.Ser2196Cys)
c.4388C>G
c.6440C>G (p.Ser2147Cys)
c.4013C>G (p.Ser1338Cys)
c.6467C>G (p.Ser2156Cys)
n.5137C>G
n.2101C>G
c.6470C>G (p.Ser2157Cys)
c.6473C>G (p.Ser2158Cys)
n.6881C>G
c.6677C>G (p.Ser2226Cys)
c.6560C>G (p.Ser2187Cys)
c.6563C>G (p.Ser2188Cys)
n.6666C>G
n.6652C>G
11g.77214635C>TCA381939240MYO7Ac.6587C>T (p.Ser2196Phe)
c.4388C>T
c.6440C>T (p.Ser2147Phe)
c.4013C>T (p.Ser1338Phe)
c.6467C>T (p.Ser2156Phe)
n.5137C>T
n.2101C>T
c.6470C>T (p.Ser2157Phe)
c.6473C>T (p.Ser2158Phe)
n.6881C>T
c.6677C>T (p.Ser2226Phe)
c.6560C>T (p.Ser2187Phe)
c.6563C>T (p.Ser2188Phe)
n.6666C>T
n.6652C>T
 gnomAD v4
11g.77214636C>ACA475792776MYO7Ac.6588C>A (p.Ser2196=)
c.4389C>A
c.6441C>A (p.Ser2147=)
c.4014C>A (p.Ser1338=)
c.6468C>A (p.Ser2156=)
n.5138C>A
n.2102C>A
c.6471C>A (p.Ser2157=)
c.6474C>A (p.Ser2158=)
n.6882C>A
c.6678C>A (p.Ser2226=)
c.6561C>A (p.Ser2187=)
c.6564C>A (p.Ser2188=)
n.6667C>A
n.6653C>A
 gnomAD v4
11g.77214636C>GCA475792778MYO7Ac.6588C>G (p.Ser2196=)
c.4389C>G
c.6441C>G (p.Ser2147=)
c.4014C>G (p.Ser1338=)
c.6468C>G (p.Ser2156=)
n.5138C>G
n.2102C>G
c.6471C>G (p.Ser2157=)
c.6474C>G (p.Ser2158=)
n.6882C>G
c.6678C>G (p.Ser2226=)
c.6561C>G (p.Ser2187=)
c.6564C>G (p.Ser2188=)
n.6667C>G
n.6653C>G
 gnomAD v4
11g.77214636C>TCA475792780MYO7Ac.6588C>T (p.Ser2196=)
c.4389C>T
c.6441C>T (p.Ser2147=)
c.4014C>T (p.Ser1338=)
c.6468C>T (p.Ser2156=)
n.5138C>T
n.2102C>T
c.6471C>T (p.Ser2157=)
c.6474C>T (p.Ser2158=)
n.6882C>T
c.6678C>T (p.Ser2226=)
c.6561C>T (p.Ser2187=)
c.6564C>T (p.Ser2188=)
n.6667C>T
n.6653C>T
 gnomAD v4
11g.77214637T>ACA381939245MYO7Ac.6589T>A (p.Tyr2197Asn)
c.4390T>A
c.6442T>A (p.Tyr2148Asn)
c.4015T>A (p.Tyr1339Asn)
c.6469T>A (p.Tyr2157Asn)
n.5139T>A
n.2103T>A
c.6472T>A (p.Tyr2158Asn)
c.6475T>A (p.Tyr2159Asn)
n.6883T>A
c.6679T>A (p.Tyr2227Asn)
c.6562T>A (p.Tyr2188Asn)
c.6565T>A (p.Tyr2189Asn)
n.6668T>A
n.6654T>A
 gnomAD v4
11g.77214637T>CCA381939248MYO7Ac.6589T>C (p.Tyr2197His)
c.4390T>C
c.6442T>C (p.Tyr2148His)
c.4015T>C (p.Tyr1339His)
c.6469T>C (p.Tyr2157His)
n.5139T>C
n.2103T>C
c.6472T>C (p.Tyr2158His)
c.6475T>C (p.Tyr2159His)
n.6883T>C
c.6679T>C (p.Tyr2227His)
c.6562T>C (p.Tyr2188His)
c.6565T>C (p.Tyr2189His)
n.6668T>C
n.6654T>C
 dbSNP gnomAD v3 gnomAD v4
11g.77214637T>GCA381939250MYO7Ac.6589T>G (p.Tyr2197Asp)
c.4390T>G
c.6442T>G (p.Tyr2148Asp)
c.4015T>G (p.Tyr1339Asp)
c.6469T>G (p.Tyr2157Asp)
n.5139T>G
n.2103T>G
c.6472T>G (p.Tyr2158Asp)
c.6475T>G (p.Tyr2159Asp)
n.6883T>G
c.6679T>G (p.Tyr2227Asp)
c.6562T>G (p.Tyr2188Asp)
c.6565T>G (p.Tyr2189Asp)
n.6668T>G
n.6654T>G
 gnomAD v4
11g.77214637T=CA1984131516MYO7Ac.6589T= (p.Tyr2197=)
c.4390T=
c.6442T= (p.Tyr2148=)
c.4015T= (p.Tyr1339=)
c.6469T= (p.Tyr2157=)
n.5139T=
n.2103T=
c.6472T= (p.Tyr2158=)
c.6475T= (p.Tyr2159=)
n.6883T=
c.6679T= (p.Tyr2227=)
c.6562T= (p.Tyr2188=)
c.6565T= (p.Tyr2189=)
n.6668T=
n.6654T=
11g.77214638A>CCA381939257MYO7Ac.6590A>C (p.Tyr2197Ser)
c.4391A>C
c.6443A>C (p.Tyr2148Ser)
c.4016A>C (p.Tyr1339Ser)
c.6470A>C (p.Tyr2157Ser)
n.5140A>C
n.2104A>C
c.6473A>C (p.Tyr2158Ser)
c.6476A>C (p.Tyr2159Ser)
n.6884A>C
c.6680A>C (p.Tyr2227Ser)
c.6563A>C (p.Tyr2188Ser)
c.6566A>C (p.Tyr2189Ser)
n.6669A>C
n.6655A>C
11g.77214638A>GCA381939255MYO7Ac.6590A>G (p.Tyr2197Cys)
c.4391A>G
c.6443A>G (p.Tyr2148Cys)
c.4016A>G (p.Tyr1339Cys)
c.6470A>G (p.Tyr2157Cys)
n.5140A>G
n.2104A>G
c.6473A>G (p.Tyr2158Cys)
c.6476A>G (p.Tyr2159Cys)
n.6884A>G
c.6680A>G (p.Tyr2227Cys)
c.6563A>G (p.Tyr2188Cys)
c.6566A>G (p.Tyr2189Cys)
n.6669A>G
n.6655A>G
 gnomAD v4
11g.77214638A>TCA381939253MYO7Ac.6590A>T (p.Tyr2197Phe)
c.4391A>T
c.6443A>T (p.Tyr2148Phe)
c.4016A>T (p.Tyr1339Phe)
c.6470A>T (p.Tyr2157Phe)
n.5140A>T
n.2104A>T
c.6473A>T (p.Tyr2158Phe)
c.6476A>T (p.Tyr2159Phe)
n.6884A>T
c.6680A>T (p.Tyr2227Phe)
c.6563A>T (p.Tyr2188Phe)
c.6566A>T (p.Tyr2189Phe)
n.6669A>T
n.6655A>T
 gnomAD v4
11g.77214639C>ACA381939260MYO7Ac.6591C>A (p.Tyr2197Ter)
c.4392C>A
c.6444C>A (p.Tyr2148Ter)
c.4017C>A (p.Tyr1339Ter)
c.6471C>A (p.Tyr2157Ter)
n.5141C>A
n.2105C>A
c.6474C>A (p.Tyr2158Ter)
c.6477C>A (p.Tyr2159Ter)
n.6885C>A
c.6681C>A (p.Tyr2227Ter)
c.6564C>A (p.Tyr2188Ter)
c.6567C>A (p.Tyr2189Ter)
n.6670C>A
n.6656C>A
11g.77214639C=CA1984131517MYO7Ac.6591C= (p.Tyr2197=)
c.4392C=
c.6444C= (p.Tyr2148=)
c.4017C= (p.Tyr1339=)
c.6471C= (p.Tyr2157=)
n.5141C=
n.2105C=
c.6474C= (p.Tyr2158=)
c.6477C= (p.Tyr2159=)
n.6885C=
c.6681C= (p.Tyr2227=)
c.6564C= (p.Tyr2188=)
c.6567C= (p.Tyr2189=)
n.6670C=
n.6656C=
11g.77214639C>GCA381939262MYO7Ac.6591C>G (p.Tyr2197Ter)
c.4392C>G
c.6444C>G (p.Tyr2148Ter)
c.4017C>G (p.Tyr1339Ter)
c.6471C>G (p.Tyr2157Ter)
n.5141C>G
n.2105C>G
c.6474C>G (p.Tyr2158Ter)
c.6477C>G (p.Tyr2159Ter)
n.6885C>G
c.6681C>G (p.Tyr2227Ter)
c.6564C>G (p.Tyr2188Ter)
c.6567C>G (p.Tyr2189Ter)
n.6670C>G
n.6656C>G
 gnomAD v4
11g.77214639C>TCA224830591MYO7Ac.6591C>T (p.Tyr2197=)
c.4392C>T
c.6444C>T (p.Tyr2148=)
c.4017C>T (p.Tyr1339=)
c.6471C>T (p.Tyr2157=)
n.5141C>T
n.2105C>T
c.6474C>T (p.Tyr2158=)
c.6477C>T (p.Tyr2159=)
n.6885C>T
c.6681C>T (p.Tyr2227=)
c.6564C>T (p.Tyr2188=)
c.6567C>T (p.Tyr2189=)
n.6670C>T
n.6656C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77214640A=CA1984131518MYO7Ac.6592A= (p.Ile2198=)
c.4393A=
c.6445A= (p.Ile2149=)
c.4018A= (p.Ile1340=)
c.6472A= (p.Ile2158=)
n.5142A=
n.2106A=
c.6475A= (p.Ile2159=)
c.6478A= (p.Ile2160=)
n.6886A=
c.6682A= (p.Ile2228=)
c.6565A= (p.Ile2189=)
c.6568A= (p.Ile2190=)
n.6671A=
n.6657A=
11g.77214640A>CCA381939267MYO7Ac.6592A>C (p.Ile2198Leu)
c.4393A>C
c.6445A>C (p.Ile2149Leu)
c.4018A>C (p.Ile1340Leu)
c.6472A>C (p.Ile2158Leu)
n.5142A>C
n.2106A>C
c.6475A>C (p.Ile2159Leu)
c.6478A>C (p.Ile2160Leu)
n.6886A>C
c.6682A>C (p.Ile2228Leu)
c.6565A>C (p.Ile2189Leu)
c.6568A>C (p.Ile2190Leu)
n.6671A>C
n.6657A>C
 dbSNP gnomAD v2 gnomAD v4
11g.77214640A>GCA6199131MYO7Ac.6592A>G (p.Ile2198Val)
c.4393A>G
c.6445A>G (p.Ile2149Val)
c.4018A>G (p.Ile1340Val)
c.6472A>G (p.Ile2158Val)
n.5142A>G
n.2106A>G
c.6475A>G (p.Ile2159Val)
c.6478A>G (p.Ile2160Val)
n.6886A>G
c.6682A>G (p.Ile2228Val)
c.6565A>G (p.Ile2189Val)
c.6568A>G (p.Ile2190Val)
n.6671A>G
n.6657A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77214640A>TCA381939271MYO7Ac.6592A>T (p.Ile2198Phe)
c.4393A>T
c.6445A>T (p.Ile2149Phe)
c.4018A>T (p.Ile1340Phe)
c.6472A>T (p.Ile2158Phe)
n.5142A>T
n.2106A>T
c.6475A>T (p.Ile2159Phe)
c.6478A>T (p.Ile2160Phe)
n.6886A>T
c.6682A>T (p.Ile2228Phe)
c.6565A>T (p.Ile2189Phe)
c.6568A>T (p.Ile2190Phe)
n.6671A>T
n.6657A>T
11g.77214641T>ACA381939277MYO7Ac.6593T>A (p.Ile2198Asn)
c.4394T>A
c.6446T>A (p.Ile2149Asn)
c.4019T>A (p.Ile1340Asn)
c.6473T>A (p.Ile2158Asn)
n.5143T>A
n.2107T>A
c.6476T>A (p.Ile2159Asn)
c.6479T>A (p.Ile2160Asn)
n.6887T>A
c.6683T>A (p.Ile2228Asn)
c.6566T>A (p.Ile2189Asn)
c.6569T>A (p.Ile2190Asn)
n.6672T>A
n.6658T>A
11g.77214641T>CCA381939273MYO7Ac.6593T>C (p.Ile2198Thr)
c.4394T>C
c.6446T>C (p.Ile2149Thr)
c.4019T>C (p.Ile1340Thr)
c.6473T>C (p.Ile2158Thr)
n.5143T>C
n.2107T>C
c.6476T>C (p.Ile2159Thr)
c.6479T>C (p.Ile2160Thr)
n.6887T>C
c.6683T>C (p.Ile2228Thr)
c.6566T>C (p.Ile2189Thr)
c.6569T>C (p.Ile2190Thr)
n.6672T>C
n.6658T>C
 dbSNP gnomAD v4
11g.77214641T>GCA381939275MYO7Ac.6593T>G (p.Ile2198Ser)
c.4394T>G
c.6446T>G (p.Ile2149Ser)
c.4019T>G (p.Ile1340Ser)
c.6473T>G (p.Ile2158Ser)
n.5143T>G
n.2107T>G
c.6476T>G (p.Ile2159Ser)
c.6479T>G (p.Ile2160Ser)
n.6887T>G
c.6683T>G (p.Ile2228Ser)
c.6566T>G (p.Ile2189Ser)
c.6569T>G (p.Ile2190Ser)
n.6672T>G
n.6658T>G
11g.77214641T=CA1984131519MYO7Ac.6593T= (p.Ile2198=)
c.4394T=
c.6446T= (p.Ile2149=)
c.4019T= (p.Ile1340=)
c.6473T= (p.Ile2158=)
n.5143T=
n.2107T=
c.6476T= (p.Ile2159=)
c.6479T= (p.Ile2160=)
n.6887T=
c.6683T= (p.Ile2228=)
c.6566T= (p.Ile2189=)
c.6569T= (p.Ile2190=)
n.6672T=
n.6658T=
11g.77214642T>ACA475792784MYO7Ac.6594T>A (p.Ile2198=)
c.4395T>A
c.6447T>A (p.Ile2149=)
c.4020T>A (p.Ile1340=)
c.6474T>A (p.Ile2158=)
n.5144T>A
n.2108T>A
c.6477T>A (p.Ile2159=)
c.6480T>A (p.Ile2160=)
n.6888T>A
c.6684T>A (p.Ile2228=)
c.6567T>A (p.Ile2189=)
c.6570T>A (p.Ile2190=)
n.6673T>A
n.6659T>A
11g.77214642T>CCA475792786MYO7Ac.6594T>C (p.Ile2198=)
c.4395T>C
c.6447T>C (p.Ile2149=)
c.4020T>C (p.Ile1340=)
c.6474T>C (p.Ile2158=)
n.5144T>C
n.2108T>C
c.6477T>C (p.Ile2159=)
c.6480T>C (p.Ile2160=)
n.6888T>C
c.6684T>C (p.Ile2228=)
c.6567T>C (p.Ile2189=)
c.6570T>C (p.Ile2190=)
n.6673T>C
n.6659T>C
 dbSNP gnomAD v3 gnomAD v4
11g.77214642T>GCA381939280MYO7Ac.6594T>G (p.Ile2198Met)
c.4395T>G
c.6447T>G (p.Ile2149Met)
c.4020T>G (p.Ile1340Met)
c.6474T>G (p.Ile2158Met)
n.5144T>G
n.2108T>G
c.6477T>G (p.Ile2159Met)
c.6480T>G (p.Ile2160Met)
n.6888T>G
c.6684T>G (p.Ile2228Met)
c.6567T>G (p.Ile2189Met)
c.6570T>G (p.Ile2190Met)
n.6673T>G
n.6659T>G
11g.77214642T=CA1984131520MYO7Ac.6594T= (p.Ile2198=)
c.4395T=
c.6447T= (p.Ile2149=)
c.4020T= (p.Ile1340=)
c.6474T= (p.Ile2158=)
n.5144T=
n.2108T=
c.6477T= (p.Ile2159=)
c.6480T= (p.Ile2160=)
n.6888T=
c.6684T= (p.Ile2228=)
c.6567T= (p.Ile2189=)
c.6570T= (p.Ile2190=)
n.6673T=
n.6659T=
11g.77214643A>CCA381939283MYO7Ac.6595A>C (p.Ser2199Arg)
c.4396A>C
c.6448A>C (p.Ser2150Arg)
c.4021A>C (p.Ser1341Arg)
c.6475A>C (p.Ser2159Arg)
n.5145A>C
n.2109A>C
c.6478A>C (p.Ser2160Arg)
c.6481A>C (p.Ser2161Arg)
n.6889A>C
c.6685A>C (p.Ser2229Arg)
c.6568A>C (p.Ser2190Arg)
c.6571A>C (p.Ser2191Arg)
n.6674A>C
n.6660A>C
 gnomAD v4
11g.77214643A>GCA381939285MYO7Ac.6595A>G (p.Ser2199Gly)
c.4396A>G
c.6448A>G (p.Ser2150Gly)
c.4021A>G (p.Ser1341Gly)
c.6475A>G (p.Ser2159Gly)
n.5145A>G
n.2109A>G
c.6478A>G (p.Ser2160Gly)
c.6481A>G (p.Ser2161Gly)
n.6889A>G
c.6685A>G (p.Ser2229Gly)
c.6568A>G (p.Ser2190Gly)
c.6571A>G (p.Ser2191Gly)
n.6674A>G
n.6660A>G
 gnomAD v4
11g.77214643A>TCA381939287MYO7Ac.6595A>T (p.Ser2199Cys)
c.4396A>T
c.6448A>T (p.Ser2150Cys)
c.4021A>T (p.Ser1341Cys)
c.6475A>T (p.Ser2159Cys)
n.5145A>T
n.2109A>T
c.6478A>T (p.Ser2160Cys)
c.6481A>T (p.Ser2161Cys)
n.6889A>T
c.6685A>T (p.Ser2229Cys)
c.6568A>T (p.Ser2190Cys)
c.6571A>T (p.Ser2191Cys)
n.6674A>T
n.6660A>T
11g.77214644G>ACA381939290MYO7Ac.6596G>A (p.Ser2199Asn)
c.4397G>A
c.6449G>A (p.Ser2150Asn)
c.4022G>A (p.Ser1341Asn)
c.6476G>A (p.Ser2159Asn)
n.5146G>A
n.2110G>A
c.6479G>A (p.Ser2160Asn)
c.6482G>A (p.Ser2161Asn)
n.6890G>A
c.6686G>A (p.Ser2229Asn)
c.6569G>A (p.Ser2190Asn)
c.6572G>A (p.Ser2191Asn)
n.6675G>A
n.6661G>A
 gnomAD v4
11g.77214644G>CCA381939291MYO7Ac.6596G>C (p.Ser2199Thr)
c.4397G>C
c.6449G>C (p.Ser2150Thr)
c.4022G>C (p.Ser1341Thr)
c.6476G>C (p.Ser2159Thr)
n.5146G>C
n.2110G>C
c.6479G>C (p.Ser2160Thr)
c.6482G>C (p.Ser2161Thr)
n.6890G>C
c.6686G>C (p.Ser2229Thr)
c.6569G>C (p.Ser2190Thr)
c.6572G>C (p.Ser2191Thr)
n.6675G>C
n.6661G>C
11g.77214644G>TCA381939292MYO7Ac.6596G>T (p.Ser2199Ile)
c.4397G>T
c.6449G>T (p.Ser2150Ile)
c.4022G>T (p.Ser1341Ile)
c.6476G>T (p.Ser2159Ile)
n.5146G>T
n.2110G>T
c.6479G>T (p.Ser2160Ile)
c.6482G>T (p.Ser2161Ile)
n.6890G>T
c.6686G>T (p.Ser2229Ile)
c.6569G>T (p.Ser2190Ile)
c.6572G>T (p.Ser2191Ile)
n.6675G>T
n.6661G>T
 gnomAD v4
11g.77214645C>ACA381939294MYO7Ac.6597C>A (p.Ser2199Arg)
c.4398C>A
c.6450C>A (p.Ser2150Arg)
c.4023C>A (p.Ser1341Arg)
c.6477C>A (p.Ser2159Arg)
n.5147C>A
n.2111C>A
c.6480C>A (p.Ser2160Arg)
c.6483C>A (p.Ser2161Arg)
n.6891C>A
c.6687C>A (p.Ser2229Arg)
c.6570C>A (p.Ser2190Arg)
c.6573C>A (p.Ser2191Arg)
n.6676C>A
n.6662C>A
 gnomAD v4
11g.77214645C=CA1984131521MYO7Ac.6597C= (p.Ser2199=)
c.4398C=
c.6450C= (p.Ser2150=)
c.4023C= (p.Ser1341=)
c.6477C= (p.Ser2159=)
n.5147C=
n.2111C=
c.6480C= (p.Ser2160=)
c.6483C= (p.Ser2161=)
n.6891C=
c.6687C= (p.Ser2229=)
c.6570C= (p.Ser2190=)
c.6573C= (p.Ser2191=)
n.6676C=
n.6662C=
11g.77214645C>GCA381939295MYO7Ac.6597C>G (p.Ser2199Arg)
c.4398C>G
c.6450C>G (p.Ser2150Arg)
c.4023C>G (p.Ser1341Arg)
c.6477C>G (p.Ser2159Arg)
n.5147C>G
n.2111C>G
c.6480C>G (p.Ser2160Arg)
c.6483C>G (p.Ser2161Arg)
n.6891C>G
c.6687C>G (p.Ser2229Arg)
c.6570C>G (p.Ser2190Arg)
c.6573C>G (p.Ser2191Arg)
n.6676C>G
n.6662C>G
11g.77214645C>TCA6199132MYO7Ac.6597C>T (p.Ser2199=)
c.4398C>T
c.6450C>T (p.Ser2150=)
c.4023C>T (p.Ser1341=)
c.6477C>T (p.Ser2159=)
n.5147C>T
n.2111C>T
c.6480C>T (p.Ser2160=)
c.6483C>T (p.Ser2161=)
n.6891C>T
c.6687C>T (p.Ser2229=)
c.6570C>T (p.Ser2190=)
c.6573C>T (p.Ser2191=)
n.6676C>T
n.6662C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77214646C>ACA381939299MYO7Ac.6598C>A (p.Gln2200Lys)
c.4399C>A
c.6451C>A (p.Gln2151Lys)
c.4024C>A (p.Gln1342Lys)
c.6478C>A (p.Gln2160Lys)
n.5148C>A
n.2112C>A
c.6481C>A (p.Gln2161Lys)
c.6484C>A (p.Gln2162Lys)
n.6892C>A
c.6688C>A (p.Gln2230Lys)
c.6571C>A (p.Gln2191Lys)
c.6574C>A (p.Gln2192Lys)
n.6677C>A
n.6663C>A
 gnomAD v4
11g.77214646C=CA1984131522MYO7Ac.6598C= (p.Gln2200=)
c.4399C=
c.6451C= (p.Gln2151=)
c.4024C= (p.Gln1342=)
c.6478C= (p.Gln2160=)
n.5148C=
n.2112C=
c.6481C= (p.Gln2161=)
c.6484C= (p.Gln2162=)
n.6892C=
c.6688C= (p.Gln2230=)
c.6571C= (p.Gln2191=)
c.6574C= (p.Gln2192=)
n.6677C=
n.6663C=
11g.77214646C>GCA381939301MYO7Ac.6598C>G (p.Gln2200Glu)
c.4399C>G
c.6451C>G (p.Gln2151Glu)
c.4024C>G (p.Gln1342Glu)
c.6478C>G (p.Gln2160Glu)
n.5148C>G
n.2112C>G
c.6481C>G (p.Gln2161Glu)
c.6484C>G (p.Gln2162Glu)
n.6892C>G
c.6688C>G (p.Gln2230Glu)
c.6571C>G (p.Gln2191Glu)
c.6574C>G (p.Gln2192Glu)
n.6677C>G
n.6663C>G
11g.77214646C>TCA381939303MYO7Ac.6598C>T (p.Gln2200Ter)
c.4399C>T
c.6451C>T (p.Gln2151Ter)
c.4024C>T (p.Gln1342Ter)
c.6478C>T (p.Gln2160Ter)
n.5148C>T
n.2112C>T
c.6481C>T (p.Gln2161Ter)
c.6484C>T (p.Gln2162Ter)
n.6892C>T
c.6688C>T (p.Gln2230Ter)
c.6571C>T (p.Gln2191Ter)
c.6574C>T (p.Gln2192Ter)
n.6677C>T
n.6663C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77214647A=CA1984131523MYO7Ac.6599A= (p.Gln2200=)
c.4400A=
c.6452A= (p.Gln2151=)
c.4025A= (p.Gln1342=)
c.6479A= (p.Gln2160=)
n.5149A=
n.2113A=
c.6482A= (p.Gln2161=)
c.6485A= (p.Gln2162=)
n.6893A=
c.6689A= (p.Gln2230=)
c.6572A= (p.Gln2191=)
c.6575A= (p.Gln2192=)
n.6678A=
n.6664A=
11g.77214647A>CCA381939307MYO7Ac.6599A>C (p.Gln2200Pro)
c.4400A>C
c.6452A>C (p.Gln2151Pro)
c.4025A>C (p.Gln1342Pro)
c.6479A>C (p.Gln2160Pro)
n.5149A>C
n.2113A>C
c.6482A>C (p.Gln2161Pro)
c.6485A>C (p.Gln2162Pro)
n.6893A>C
c.6689A>C (p.Gln2230Pro)
c.6572A>C (p.Gln2191Pro)
c.6575A>C (p.Gln2192Pro)
n.6678A>C
n.6664A>C
11g.77214647A>GCA381939311MYO7Ac.6599A>G (p.Gln2200Arg)
c.4400A>G
c.6452A>G (p.Gln2151Arg)
c.4025A>G (p.Gln1342Arg)
c.6479A>G (p.Gln2160Arg)
n.5149A>G
n.2113A>G
c.6482A>G (p.Gln2161Arg)
c.6485A>G (p.Gln2162Arg)
n.6893A>G
c.6689A>G (p.Gln2230Arg)
c.6572A>G (p.Gln2191Arg)
c.6575A>G (p.Gln2192Arg)
n.6678A>G
n.6664A>G
 dbSNP gnomAD v3 gnomAD v4
11g.77214647A>TCA381939309MYO7Ac.6599A>T (p.Gln2200Leu)
c.4400A>T
c.6452A>T (p.Gln2151Leu)
c.4025A>T (p.Gln1342Leu)
c.6479A>T (p.Gln2160Leu)
n.5149A>T
n.2113A>T
c.6482A>T (p.Gln2161Leu)
c.6485A>T (p.Gln2162Leu)
n.6893A>T
c.6689A>T (p.Gln2230Leu)
c.6572A>T (p.Gln2191Leu)
c.6575A>T (p.Gln2192Leu)
n.6678A>T
n.6664A>T
 gnomAD v4
11g.77214648G>ACA475792791MYO7Ac.6600G>A (p.Gln2200=)
c.4401G>A
c.6453G>A (p.Gln2151=)
c.4026G>A (p.Gln1342=)
c.6480G>A (p.Gln2160=)
n.5150G>A
n.2114G>A
c.6483G>A (p.Gln2161=)
c.6486G>A (p.Gln2162=)
n.6894G>A
c.6690G>A (p.Gln2230=)
c.6573G>A (p.Gln2191=)
c.6576G>A (p.Gln2192=)
n.6679G>A
n.6665G>A
11g.77214648G>CCA6199133MYO7Ac.6600G>C (p.Gln2200His)
c.4401G>C
c.6453G>C (p.Gln2151His)
c.4026G>C (p.Gln1342His)
c.6480G>C (p.Gln2160His)
n.5150G>C
n.2114G>C
c.6483G>C (p.Gln2161His)
c.6486G>C (p.Gln2162His)
n.6894G>C
c.6690G>C (p.Gln2230His)
c.6573G>C (p.Gln2191His)
c.6576G>C (p.Gln2192His)
n.6679G>C
n.6665G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77214648G=CA1984131524MYO7Ac.6600G= (p.Gln2200=)
c.4401G=
c.6453G= (p.Gln2151=)
c.4026G= (p.Gln1342=)
c.6480G= (p.Gln2160=)
n.5150G=
n.2114G=
c.6483G= (p.Gln2161=)
c.6486G= (p.Gln2162=)
n.6894G=
c.6690G= (p.Gln2230=)
c.6573G= (p.Gln2191=)
c.6576G= (p.Gln2192=)
n.6679G=
n.6665G=
11g.77214648G>TCA381939316MYO7Ac.6600G>T (p.Gln2200His)
c.4401G>T
c.6453G>T (p.Gln2151His)
c.4026G>T (p.Gln1342His)
c.6480G>T (p.Gln2160His)
n.5150G>T
n.2114G>T
c.6483G>T (p.Gln2161His)
c.6486G>T (p.Gln2162His)
n.6894G>T
c.6690G>T (p.Gln2230His)
c.6573G>T (p.Gln2191His)
c.6576G>T (p.Gln2192His)
n.6679G>T
n.6665G>T
 gnomAD v4
11g.77214649A>CCA381939318MYO7Ac.6601A>C (p.Met2201Leu)
c.4402A>C
c.6454A>C (p.Met2152Leu)
c.4027A>C (p.Met1343Leu)
c.6481A>C (p.Met2161Leu)
n.5151A>C
n.2115A>C
c.6484A>C (p.Met2162Leu)
c.6487A>C (p.Met2163Leu)
n.6895A>C
c.6691A>C (p.Met2231Leu)
c.6574A>C (p.Met2192Leu)
c.6577A>C (p.Met2193Leu)
n.6680A>C
n.6666A>C
11g.77214649A>GCA381939320MYO7Ac.6601A>G (p.Met2201Val)
c.4402A>G
c.6454A>G (p.Met2152Val)
c.4027A>G (p.Met1343Val)
c.6481A>G (p.Met2161Val)
n.5151A>G
n.2115A>G
c.6484A>G (p.Met2162Val)
c.6487A>G (p.Met2163Val)
n.6895A>G
c.6691A>G (p.Met2231Val)
c.6574A>G (p.Met2192Val)
c.6577A>G (p.Met2193Val)
n.6680A>G
n.6666A>G
11g.77214649A>TCA381939322MYO7Ac.6601A>T (p.Met2201Leu)
c.4402A>T
c.6454A>T (p.Met2152Leu)
c.4027A>T (p.Met1343Leu)
c.6481A>T (p.Met2161Leu)
n.5151A>T
n.2115A>T
c.6484A>T (p.Met2162Leu)
c.6487A>T (p.Met2163Leu)
n.6895A>T
c.6691A>T (p.Met2231Leu)
c.6574A>T (p.Met2192Leu)
c.6577A>T (p.Met2193Leu)
n.6680A>T
n.6666A>T
 gnomAD v4
11g.77214650T>ACA6199134MYO7Ac.6602T>A (p.Met2201Lys)
c.4403T>A
c.6455T>A (p.Met2152Lys)
c.4028T>A (p.Met1343Lys)
c.6482T>A (p.Met2161Lys)
n.5152T>A
n.2116T>A
c.6485T>A (p.Met2162Lys)
c.6488T>A (p.Met2163Lys)
n.6896T>A
c.6692T>A (p.Met2231Lys)
c.6575T>A (p.Met2192Lys)
c.6578T>A (p.Met2193Lys)
n.6681T>A
n.6667T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77214650T>CCA381939328MYO7Ac.6602T>C (p.Met2201Thr)
c.4403T>C
c.6455T>C (p.Met2152Thr)
c.4028T>C (p.Met1343Thr)
c.6482T>C (p.Met2161Thr)
n.5152T>C
n.2116T>C
c.6485T>C (p.Met2162Thr)
c.6488T>C (p.Met2163Thr)
n.6896T>C
c.6692T>C (p.Met2231Thr)
c.6575T>C (p.Met2192Thr)
c.6578T>C (p.Met2193Thr)
n.6681T>C
n.6667T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77214650T>GCA381939326MYO7Ac.6602T>G (p.Met2201Arg)
c.4403T>G
c.6455T>G (p.Met2152Arg)
c.4028T>G (p.Met1343Arg)
c.6482T>G (p.Met2161Arg)
n.5152T>G
n.2116T>G
c.6485T>G (p.Met2162Arg)
c.6488T>G (p.Met2163Arg)
n.6896T>G
c.6692T>G (p.Met2231Arg)
c.6575T>G (p.Met2192Arg)
c.6578T>G (p.Met2193Arg)
n.6681T>G
n.6667T>G
11g.77214650T=CA1984131525MYO7Ac.6602T= (p.Met2201=)
c.4403T=
c.6455T= (p.Met2152=)
c.4028T= (p.Met1343=)
c.6482T= (p.Met2161=)
n.5152T=
n.2116T=
c.6485T= (p.Met2162=)
c.6488T= (p.Met2163=)
n.6896T=
c.6692T= (p.Met2231=)
c.6575T= (p.Met2192=)
c.6578T= (p.Met2193=)
n.6681T=
n.6667T=
11g.77214651G>ACA381939332MYO7Ac.6603G>A (p.Met2201Ile)
c.4404G>A
c.6456G>A (p.Met2152Ile)
c.4029G>A (p.Met1343Ile)
c.6483G>A (p.Met2161Ile)
n.5153G>A
n.2117G>A
c.6486G>A (p.Met2162Ile)
c.6489G>A (p.Met2163Ile)
n.6897G>A
c.6693G>A (p.Met2231Ile)
c.6576G>A (p.Met2192Ile)
c.6579G>A (p.Met2193Ile)
n.6682G>A
n.6668G>A
 dbSNP gnomAD v2 gnomAD v4
11g.77214651G>CCA381939334MYO7Ac.6603G>C (p.Met2201Ile)
c.4404G>C
c.6456G>C (p.Met2152Ile)
c.4029G>C (p.Met1343Ile)
c.6483G>C (p.Met2161Ile)
n.5153G>C
n.2117G>C
c.6486G>C (p.Met2162Ile)
c.6489G>C (p.Met2163Ile)
n.6897G>C
c.6693G>C (p.Met2231Ile)
c.6576G>C (p.Met2192Ile)
c.6579G>C (p.Met2193Ile)
n.6682G>C
n.6668G>C
11g.77214651G=CA1984131526MYO7Ac.6603G= (p.Met2201=)
c.4404G=
c.6456G= (p.Met2152=)
c.4029G= (p.Met1343=)
c.6483G= (p.Met2161=)
n.5153G=
n.2117G=
c.6486G= (p.Met2162=)
c.6489G= (p.Met2163=)
n.6897G=
c.6693G= (p.Met2231=)
c.6576G= (p.Met2192=)
c.6579G= (p.Met2193=)
n.6682G=
n.6668G=
11g.77214651G>TCA381939336MYO7Ac.6603G>T (p.Met2201Ile)
c.4404G>T
c.6456G>T (p.Met2152Ile)
c.4029G>T (p.Met1343Ile)
c.6483G>T (p.Met2161Ile)
n.5153G>T
n.2117G>T
c.6486G>T (p.Met2162Ile)
c.6489G>T (p.Met2163Ile)
n.6897G>T
c.6693G>T (p.Met2231Ile)
c.6576G>T (p.Met2192Ile)
c.6579G>T (p.Met2193Ile)
n.6682G>T
n.6668G>T
 gnomAD v4
11g.77214651_77214652insGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGCCA2615269230MYO7Ac.6603_6604insGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGC (p.Leu2202AlafsTer14)
c.4404_4405insGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGC
c.6456_6457insGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGC (p.Leu2153AlafsTer14)
c.4029_4030insGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGC (p.Leu1344AlafsTer14)
c.6483_6484insGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGC (p.Leu2162AlafsTer14)
n.5153_5154insGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGC
n.2117_2118insGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGC
c.6486_6487insGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGC (p.Leu2163AlafsTer14)
c.6489_6490insGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGC (p.Leu2164AlafsTer14)
n.6897_6898insGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGC
c.6693_6694insGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGC (p.Leu2232AlafsTer14)
c.6576_6577insGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGC (p.Leu2193AlafsTer14)
c.6579_6580insGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGC (p.Leu2194AlafsTer14)
n.6682_6683insGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGC
n.6668_6669insGCAGACCCTGGAAAGAGTGCTCCTGGCAGGGGTCCCACATAGACAAAGGC
 gnomAD v4
11g.77214652C>ACA381939338MYO7Ac.6604C>A (p.Leu2202Ile)
c.4405C>A
c.6457C>A (p.Leu2153Ile)
c.4030C>A (p.Leu1344Ile)
c.6484C>A (p.Leu2162Ile)
n.5154C>A
n.2118C>A
c.6487C>A (p.Leu2163Ile)
c.6490C>A (p.Leu2164Ile)
n.6898C>A
c.6694C>A (p.Leu2232Ile)
c.6577C>A (p.Leu2193Ile)
c.6580C>A (p.Leu2194Ile)
n.6683C>A
n.6669C>A
 gnomAD v4
11g.77214652C=CA1984131527MYO7Ac.6604C= (p.Leu2202=)
c.4405C=
c.6457C= (p.Leu2153=)
c.4030C= (p.Leu1344=)
c.6484C= (p.Leu2162=)
n.5154C=
n.2118C=
c.6487C= (p.Leu2163=)
c.6490C= (p.Leu2164=)
n.6898C=
c.6694C= (p.Leu2232=)
c.6577C= (p.Leu2193=)
c.6580C= (p.Leu2194=)
n.6683C=
n.6669C=
11g.77214652C>GCA381939341MYO7Ac.6604C>G (p.Leu2202Val)
c.4405C>G
c.6457C>G (p.Leu2153Val)
c.4030C>G (p.Leu1344Val)
c.6484C>G (p.Leu2162Val)
n.5154C>G
n.2118C>G
c.6487C>G (p.Leu2163Val)
c.6490C>G (p.Leu2164Val)
n.6898C>G
c.6694C>G (p.Leu2232Val)
c.6577C>G (p.Leu2193Val)
c.6580C>G (p.Leu2194Val)
n.6683C>G
n.6669C>G
11g.77214652C>TCA381939343MYO7Ac.6604C>T (p.Leu2202Phe)
c.4405C>T
c.6457C>T (p.Leu2153Phe)
c.4030C>T (p.Leu1344Phe)
c.6484C>T (p.Leu2162Phe)
n.5154C>T
n.2118C>T
c.6487C>T (p.Leu2163Phe)
c.6490C>T (p.Leu2164Phe)
n.6898C>T
c.6694C>T (p.Leu2232Phe)
c.6577C>T (p.Leu2193Phe)
c.6580C>T (p.Leu2194Phe)
n.6683C>T
n.6669C>T
 ClinVar dbSNP gnomAD v4
11g.77214653T>ACA381939347MYO7Ac.6605T>A (p.Leu2202His)
c.4406T>A
c.6458T>A (p.Leu2153His)
c.4031T>A (p.Leu1344His)
c.6485T>A (p.Leu2162His)
n.5155T>A
n.2119T>A
c.6488T>A (p.Leu2163His)
c.6491T>A (p.Leu2164His)
n.6899T>A
c.6695T>A (p.Leu2232His)
c.6578T>A (p.Leu2193His)
c.6581T>A (p.Leu2194His)
n.6684T>A
n.6670T>A
 gnomAD v4
11g.77214653T>CCA381939350MYO7Ac.6605T>C (p.Leu2202Pro)
c.4406T>C
c.6458T>C (p.Leu2153Pro)
c.4031T>C (p.Leu1344Pro)
c.6485T>C (p.Leu2162Pro)
n.5155T>C
n.2119T>C
c.6488T>C (p.Leu2163Pro)
c.6491T>C (p.Leu2164Pro)
n.6899T>C
c.6695T>C (p.Leu2232Pro)
c.6578T>C (p.Leu2193Pro)
c.6581T>C (p.Leu2194Pro)
n.6684T>C
n.6670T>C
 gnomAD v4
11g.77214653T>GCA381939349MYO7Ac.6605T>G (p.Leu2202Arg)
c.4406T>G
c.6458T>G (p.Leu2153Arg)
c.4031T>G (p.Leu1344Arg)
c.6485T>G (p.Leu2162Arg)
n.5155T>G
n.2119T>G
c.6488T>G (p.Leu2163Arg)
c.6491T>G (p.Leu2164Arg)
n.6899T>G
c.6695T>G (p.Leu2232Arg)
c.6578T>G (p.Leu2193Arg)
c.6581T>G (p.Leu2194Arg)
n.6684T>G
n.6670T>G
11g.77214654C>ACA475792796MYO7Ac.6606C>A (p.Leu2202=)
c.4407C>A
c.6459C>A (p.Leu2153=)
c.4032C>A (p.Leu1344=)
c.6486C>A (p.Leu2162=)
n.5156C>A
n.2120C>A
c.6489C>A (p.Leu2163=)
c.6492C>A (p.Leu2164=)
n.6900C>A
c.6696C>A (p.Leu2232=)
c.6579C>A (p.Leu2193=)
c.6582C>A (p.Leu2194=)
n.6685C>A
n.6671C>A
 gnomAD v4
11g.77214654C=CA1984131528MYO7Ac.6606C= (p.Leu2202=)
c.4407C=
c.6459C= (p.Leu2153=)
c.4032C= (p.Leu1344=)
c.6486C= (p.Leu2162=)
n.5156C=
n.2120C=
c.6489C= (p.Leu2163=)
c.6492C= (p.Leu2164=)
n.6900C=
c.6696C= (p.Leu2232=)
c.6579C= (p.Leu2193=)
c.6582C= (p.Leu2194=)
n.6685C=
n.6671C=
11g.77214654C>GCA475792795MYO7Ac.6606C>G (p.Leu2202=)
c.4407C>G
c.6459C>G (p.Leu2153=)
c.4032C>G (p.Leu1344=)
c.6486C>G (p.Leu2162=)
n.5156C>G
n.2120C>G
c.6489C>G (p.Leu2163=)
c.6492C>G (p.Leu2164=)
n.6900C>G
c.6696C>G (p.Leu2232=)
c.6579C>G (p.Leu2193=)
c.6582C>G (p.Leu2194=)
n.6685C>G
n.6671C>G
11g.77214654C>TCA475792794MYO7Ac.6606C>T (p.Leu2202=)
c.4407C>T
c.6459C>T (p.Leu2153=)
c.4032C>T (p.Leu1344=)
c.6486C>T (p.Leu2162=)
n.5156C>T
n.2120C>T
c.6489C>T (p.Leu2163=)
c.6492C>T (p.Leu2164=)
n.6900C>T
c.6696C>T (p.Leu2232=)
c.6579C>T (p.Leu2193=)
c.6582C>T (p.Leu2194=)
n.6685C>T
n.6671C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77214655A>CCA381939353MYO7Ac.6607A>C (p.Thr2203Pro)
c.4408A>C
c.6460A>C (p.Thr2154Pro)
c.4033A>C (p.Thr1345Pro)
c.6487A>C (p.Thr2163Pro)
n.5157A>C
n.2121A>C
c.6490A>C (p.Thr2164Pro)
c.6493A>C (p.Thr2165Pro)
n.6901A>C
c.6697A>C (p.Thr2233Pro)
c.6580A>C (p.Thr2194Pro)
c.6583A>C (p.Thr2195Pro)
n.6686A>C
n.6672A>C
11g.77214655A>GCA381939354MYO7Ac.6607A>G (p.Thr2203Ala)
c.4408A>G
c.6460A>G (p.Thr2154Ala)
c.4033A>G (p.Thr1345Ala)
c.6487A>G (p.Thr2163Ala)
n.5157A>G
n.2121A>G
c.6490A>G (p.Thr2164Ala)
c.6493A>G (p.Thr2165Ala)
n.6901A>G
c.6697A>G (p.Thr2233Ala)
c.6580A>G (p.Thr2194Ala)
c.6583A>G (p.Thr2195Ala)
n.6686A>G
n.6672A>G
 gnomAD v4
11g.77214655A>TCA381939356MYO7Ac.6607A>T (p.Thr2203Ser)
c.4408A>T
c.6460A>T (p.Thr2154Ser)
c.4033A>T (p.Thr1345Ser)
c.6487A>T (p.Thr2163Ser)
n.5157A>T
n.2121A>T
c.6490A>T (p.Thr2164Ser)
c.6493A>T (p.Thr2165Ser)
n.6901A>T
c.6697A>T (p.Thr2233Ser)
c.6580A>T (p.Thr2194Ser)
c.6583A>T (p.Thr2195Ser)
n.6686A>T
n.6672A>T
 gnomAD v4
11g.77214656C>ACA381939358MYO7Ac.6608C>A (p.Thr2203Lys)
c.4409C>A
c.6461C>A (p.Thr2154Lys)
c.4034C>A (p.Thr1345Lys)
c.6488C>A (p.Thr2163Lys)
n.5158C>A
n.2122C>A
c.6491C>A (p.Thr2164Lys)
c.6494C>A (p.Thr2165Lys)
n.6902C>A
c.6698C>A (p.Thr2233Lys)
c.6581C>A (p.Thr2194Lys)
c.6584C>A (p.Thr2195Lys)
n.6687C>A
n.6673C>A
 gnomAD v4
11g.77214656C=CA1984131529MYO7Ac.6608C= (p.Thr2203=)
c.4409C=
c.6461C= (p.Thr2154=)
c.4034C= (p.Thr1345=)
c.6488C= (p.Thr2163=)
n.5158C=
n.2122C=
c.6491C= (p.Thr2164=)
c.6494C= (p.Thr2165=)
n.6902C=
c.6698C= (p.Thr2233=)
c.6581C= (p.Thr2194=)
c.6584C= (p.Thr2195=)
n.6687C=
n.6673C=
11g.77214656C>GCA381939361MYO7Ac.6608C>G (p.Thr2203Arg)
c.4409C>G
c.6461C>G (p.Thr2154Arg)
c.4034C>G (p.Thr1345Arg)
c.6488C>G (p.Thr2163Arg)
n.5158C>G
n.2122C>G
c.6491C>G (p.Thr2164Arg)
c.6494C>G (p.Thr2165Arg)
n.6902C>G
c.6698C>G (p.Thr2233Arg)
c.6581C>G (p.Thr2194Arg)
c.6584C>G (p.Thr2195Arg)
n.6687C>G
n.6673C>G
11g.77214656C>TCA381939364MYO7Ac.6608C>T (p.Thr2203Ile)
c.4409C>T
c.6461C>T (p.Thr2154Ile)
c.4034C>T (p.Thr1345Ile)
c.6488C>T (p.Thr2163Ile)
n.5158C>T
n.2122C>T
c.6491C>T (p.Thr2164Ile)
c.6494C>T (p.Thr2165Ile)
n.6902C>T
c.6698C>T (p.Thr2233Ile)
c.6581C>T (p.Thr2194Ile)
c.6584C>T (p.Thr2195Ile)
n.6687C>T
n.6673C>T
 dbSNP gnomAD v2 gnomAD v4
11g.77214657A=CA1984131530MYO7Ac.6609A= (p.Thr2203=)
c.4410A=
c.6462A= (p.Thr2154=)
c.4035A= (p.Thr1345=)
c.6489A= (p.Thr2163=)
n.5159A=
n.2123A=
c.6492A= (p.Thr2164=)
c.6495A= (p.Thr2165=)
n.6903A=
c.6699A= (p.Thr2233=)
c.6582A= (p.Thr2194=)
c.6585A= (p.Thr2195=)
n.6688A=
n.6674A=
11g.77214657A>CCA475792800MYO7Ac.6609A>C (p.Thr2203=)
c.4410A>C
c.6462A>C (p.Thr2154=)
c.4035A>C (p.Thr1345=)
c.6489A>C (p.Thr2163=)
n.5159A>C
n.2123A>C
c.6492A>C (p.Thr2164=)
c.6495A>C (p.Thr2165=)
n.6903A>C
c.6699A>C (p.Thr2233=)
c.6582A>C (p.Thr2194=)
c.6585A>C (p.Thr2195=)
n.6688A>C
n.6674A>C
11g.77214657A>GCA475792801MYO7Ac.6609A>G (p.Thr2203=)
c.4410A>G
c.6462A>G (p.Thr2154=)
c.4035A>G (p.Thr1345=)
c.6489A>G (p.Thr2163=)
n.5159A>G
n.2123A>G
c.6492A>G (p.Thr2164=)
c.6495A>G (p.Thr2165=)
n.6903A>G
c.6699A>G (p.Thr2233=)
c.6582A>G (p.Thr2194=)
c.6585A>G (p.Thr2195=)
n.6688A>G
n.6674A>G
 ClinVar dbSNP gnomAD v4
11g.77214657A>TCA475792802MYO7Ac.6609A>T (p.Thr2203=)
c.4410A>T
c.6462A>T (p.Thr2154=)
c.4035A>T (p.Thr1345=)
c.6489A>T (p.Thr2163=)
n.5159A>T
n.2123A>T
c.6492A>T (p.Thr2164=)
c.6495A>T (p.Thr2165=)
n.6903A>T
c.6699A>T (p.Thr2233=)
c.6582A>T (p.Thr2194=)
c.6585A>T (p.Thr2195=)
n.6688A>T
n.6674A>T
11g.77214658G>ACA381939367MYO7Ac.6610G>A (p.Ala2204Thr)
c.4411G>A
c.6463G>A (p.Ala2155Thr)
c.4036G>A (p.Ala1346Thr)
c.6490G>A (p.Ala2164Thr)
n.5160G>A
n.2124G>A
c.6493G>A (p.Ala2165Thr)
c.6496G>A (p.Ala2166Thr)
n.6904G>A
c.6700G>A (p.Ala2234Thr)
c.6583G>A (p.Ala2195Thr)
c.6586G>A (p.Ala2196Thr)
n.6689G>A
n.6675G>A
 gnomAD v4
11g.77214658G>CCA381939369MYO7Ac.6610G>C (p.Ala2204Pro)
c.4411G>C
c.6463G>C (p.Ala2155Pro)
c.4036G>C (p.Ala1346Pro)
c.6490G>C (p.Ala2164Pro)
n.5160G>C
n.2124G>C
c.6493G>C (p.Ala2165Pro)
c.6496G>C (p.Ala2166Pro)
n.6904G>C
c.6700G>C (p.Ala2234Pro)
c.6583G>C (p.Ala2195Pro)
c.6586G>C (p.Ala2196Pro)
n.6689G>C
n.6675G>C
11g.77214658G=CA1984131531MYO7Ac.6610G= (p.Ala2204=)
c.4411G=
c.6463G= (p.Ala2155=)
c.4036G= (p.Ala1346=)
c.6490G= (p.Ala2164=)
n.5160G=
n.2124G=
c.6493G= (p.Ala2165=)
c.6496G= (p.Ala2166=)
n.6904G=
c.6700G= (p.Ala2234=)
c.6583G= (p.Ala2195=)
c.6586G= (p.Ala2196=)
n.6689G=
n.6675G=
11g.77214658G>TCA381939371MYO7Ac.6610G>T (p.Ala2204Ser)
c.4411G>T
c.6463G>T (p.Ala2155Ser)
c.4036G>T (p.Ala1346Ser)
c.6490G>T (p.Ala2164Ser)
n.5160G>T
n.2124G>T
c.6493G>T (p.Ala2165Ser)
c.6496G>T (p.Ala2166Ser)
n.6904G>T
c.6700G>T (p.Ala2234Ser)
c.6583G>T (p.Ala2195Ser)
c.6586G>T (p.Ala2196Ser)
n.6689G>T
n.6675G>T
 gnomAD v4
11g.77214659C>ACA381939385MYO7Ac.6611C>A (p.Ala2204Asp)
c.4412C>A
c.6464C>A (p.Ala2155Asp)
c.4037C>A (p.Ala1346Asp)
c.6491C>A (p.Ala2164Asp)
n.5161C>A
n.2125C>A
c.6494C>A (p.Ala2165Asp)
c.6497C>A (p.Ala2166Asp)
n.6905C>A
c.6701C>A (p.Ala2234Asp)
c.6584C>A (p.Ala2195Asp)
c.6587C>A (p.Ala2196Asp)
n.6690C>A
n.6676C>A
 gnomAD v4
11g.77214659C=CA1984131532MYO7Ac.6611C= (p.Ala2204=)
c.4412C=
c.6464C= (p.Ala2155=)
c.4037C= (p.Ala1346=)
c.6491C= (p.Ala2164=)
n.5161C=
n.2125C=
c.6494C= (p.Ala2165=)
c.6497C= (p.Ala2166=)
n.6905C=
c.6701C= (p.Ala2234=)
c.6584C= (p.Ala2195=)
c.6587C= (p.Ala2196=)
n.6690C=
n.6676C=
11g.77214659C>GCA381939383MYO7Ac.6611C>G (p.Ala2204Gly)
c.4412C>G
c.6464C>G (p.Ala2155Gly)
c.4037C>G (p.Ala1346Gly)
c.6491C>G (p.Ala2164Gly)
n.5161C>G
n.2125C>G
c.6494C>G (p.Ala2165Gly)
c.6497C>G (p.Ala2166Gly)
n.6905C>G
c.6701C>G (p.Ala2234Gly)
c.6584C>G (p.Ala2195Gly)
c.6587C>G (p.Ala2196Gly)
n.6690C>G
n.6676C>G
11g.77214659C>TCA381939380MYO7Ac.6611C>T (p.Ala2204Val)
c.4412C>T
c.6464C>T (p.Ala2155Val)
c.4037C>T (p.Ala1346Val)
c.6491C>T (p.Ala2164Val)
n.5161C>T
n.2125C>T
c.6494C>T (p.Ala2165Val)
c.6497C>T (p.Ala2166Val)
n.6905C>T
c.6701C>T (p.Ala2234Val)
c.6584C>T (p.Ala2195Val)
c.6587C>T (p.Ala2196Val)
n.6690C>T
n.6676C>T
 dbSNP gnomAD v2 gnomAD v4
11g.77214662_77214682dupCA278730MYO7Ac.6614_6634dup (p.Ser2211_Arg2212insMetSerLysGlnArgGlySer)
c.4415_4435dup
c.6467_6487dup (p.Ser2162_Arg2163insMetSerLysGlnArgGlySer)
c.4040_4060dup (p.Ser1353_Arg1354insMetSerLysGlnArgGlySer)
c.6494_6514dup (p.Ser2171_Arg2172insMetSerLysGlnArgGlySer)
n.5164_5184dup
n.2128_2148dup
c.6497_6517dup (p.Ser2172_Arg2173insMetSerLysGlnArgGlySer)
c.6500_6520dup (p.Ser2173_Arg2174insMetSerLysGlnArgGlySer)
n.6908_6928dup
c.6704_6724dup (p.Ser2241_Arg2242insMetSerLysGlnArgGlySer)
c.6587_6607dup (p.Ser2202_Arg2203insMetSerLysGlnArgGlySer)
c.6590_6610dup (p.Ser2203_Arg2204insMetSerLysGlnArgGlySer)
n.6693_6713dup
n.6679_6699dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77214660C>ACA475792806MYO7Ac.6612C>A (p.Ala2204=)
c.4413C>A
c.6465C>A (p.Ala2155=)
c.4038C>A (p.Ala1346=)
c.6492C>A (p.Ala2164=)
n.5162C>A
n.2126C>A
c.6495C>A (p.Ala2165=)
c.6498C>A (p.Ala2166=)
n.6906C>A
c.6702C>A (p.Ala2234=)
c.6585C>A (p.Ala2195=)
c.6588C>A (p.Ala2196=)
n.6691C>A
n.6677C>A
 gnomAD v4
11g.77214660C>GCA475792809MYO7Ac.6612C>G (p.Ala2204=)
c.4413C>G
c.6465C>G (p.Ala2155=)
c.4038C>G (p.Ala1346=)
c.6492C>G (p.Ala2164=)
n.5162C>G
n.2126C>G
c.6495C>G (p.Ala2165=)
c.6498C>G (p.Ala2166=)
n.6906C>G
c.6702C>G (p.Ala2234=)
c.6585C>G (p.Ala2195=)
c.6588C>G (p.Ala2196=)
n.6691C>G
n.6677C>G
11g.77214660C>TCA475792807MYO7Ac.6612C>T (p.Ala2204=)
c.4413C>T
c.6465C>T (p.Ala2155=)
c.4038C>T (p.Ala1346=)
c.6492C>T (p.Ala2164=)
n.5162C>T
n.2126C>T
c.6495C>T (p.Ala2165=)
c.6498C>T (p.Ala2166=)
n.6906C>T
c.6702C>T (p.Ala2234=)
c.6585C>T (p.Ala2195=)
c.6588C>T (p.Ala2196=)
n.6691C>T
n.6677C>T
 gnomAD v4
11g.77214661A=CA1984131533MYO7Ac.6613A= (p.Met2205=)
c.4414A=
c.6466A= (p.Met2156=)
c.4039A= (p.Met1347=)
c.6493A= (p.Met2165=)
n.5163A=
n.2127A=
c.6496A= (p.Met2166=)
c.6499A= (p.Met2167=)
n.6907A=
c.6703A= (p.Met2235=)
c.6586A= (p.Met2196=)
c.6589A= (p.Met2197=)
n.6692A=
n.6678A=
11g.77214661A>CCA381939389MYO7Ac.6613A>C (p.Met2205Leu)
c.4414A>C
c.6466A>C (p.Met2156Leu)
c.4039A>C (p.Met1347Leu)
c.6493A>C (p.Met2165Leu)
n.5163A>C
n.2127A>C
c.6496A>C (p.Met2166Leu)
c.6499A>C (p.Met2167Leu)
n.6907A>C
c.6703A>C (p.Met2235Leu)
c.6586A>C (p.Met2196Leu)
c.6589A>C (p.Met2197Leu)
n.6692A>C
n.6678A>C
11g.77214661A>GCA224830627MYO7Ac.6613A>G (p.Met2205Val)
c.4414A>G
c.6466A>G (p.Met2156Val)
c.4039A>G (p.Met1347Val)
c.6493A>G (p.Met2165Val)
n.5163A>G
n.2127A>G
c.6496A>G (p.Met2166Val)
c.6499A>G (p.Met2167Val)
n.6907A>G
c.6703A>G (p.Met2235Val)
c.6586A>G (p.Met2196Val)
c.6589A>G (p.Met2197Val)
n.6692A>G
n.6678A>G
 dbSNP gnomAD v4
11g.77214661A>TCA381939392MYO7Ac.6613A>T (p.Met2205Leu)
c.4414A>T
c.6466A>T (p.Met2156Leu)
c.4039A>T (p.Met1347Leu)
c.6493A>T (p.Met2165Leu)
n.5163A>T
n.2127A>T
c.6496A>T (p.Met2166Leu)
c.6499A>T (p.Met2167Leu)
n.6907A>T
c.6703A>T (p.Met2235Leu)
c.6586A>T (p.Met2196Leu)
c.6589A>T (p.Met2197Leu)
n.6692A>T
n.6678A>T
11g.77214662T>ACA381939394MYO7Ac.6614T>A (p.Met2205Lys)
c.4415T>A
c.6467T>A (p.Met2156Lys)
c.4040T>A (p.Met1347Lys)
c.6494T>A (p.Met2165Lys)
n.5164T>A
n.2128T>A
c.6497T>A (p.Met2166Lys)
c.6500T>A (p.Met2167Lys)
n.6908T>A
c.6704T>A (p.Met2235Lys)
c.6587T>A (p.Met2196Lys)
c.6590T>A (p.Met2197Lys)
n.6693T>A
n.6679T>A
 gnomAD v4
11g.77214662T>CCA381939397MYO7Ac.6614T>C (p.Met2205Thr)
c.4415T>C
c.6467T>C (p.Met2156Thr)
c.4040T>C (p.Met1347Thr)
c.6494T>C (p.Met2165Thr)
n.5164T>C
n.2128T>C
c.6497T>C (p.Met2166Thr)
c.6500T>C (p.Met2167Thr)
n.6908T>C
c.6704T>C (p.Met2235Thr)
c.6587T>C (p.Met2196Thr)
c.6590T>C (p.Met2197Thr)
n.6693T>C
n.6679T>C
 gnomAD v4
11g.77214662T>GCA381939398MYO7Ac.6614T>G (p.Met2205Arg)
c.4415T>G
c.6467T>G (p.Met2156Arg)
c.4040T>G (p.Met1347Arg)
c.6494T>G (p.Met2165Arg)
n.5164T>G
n.2128T>G
c.6497T>G (p.Met2166Arg)
c.6500T>G (p.Met2167Arg)
n.6908T>G
c.6704T>G (p.Met2235Arg)
c.6587T>G (p.Met2196Arg)
c.6590T>G (p.Met2197Arg)
n.6693T>G
n.6679T>G
11g.77214662T=CA1984131534MYO7Ac.6614T= (p.Met2205=)
c.4415T=
c.6467T= (p.Met2156=)
c.4040T= (p.Met1347=)
c.6494T= (p.Met2165=)
n.5164T=
n.2128T=
c.6497T= (p.Met2166=)
c.6500T= (p.Met2167=)
n.6908T=
c.6704T= (p.Met2235=)
c.6587T= (p.Met2196=)
c.6590T= (p.Met2197=)
n.6693T=
n.6679T=
11g.77214663G>ACA177397MYO7Ac.6615G>A (p.Met2205Ile)
c.4416G>A
c.6468G>A (p.Met2156Ile)
c.4041G>A (p.Met1347Ile)
c.6495G>A (p.Met2165Ile)
n.5165G>A
n.2129G>A
c.6498G>A (p.Met2166Ile)
c.6501G>A (p.Met2167Ile)
n.6909G>A
c.6705G>A (p.Met2235Ile)
c.6588G>A (p.Met2196Ile)
c.6591G>A (p.Met2197Ile)
n.6694G>A
n.6680G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77214663G>CCA381939401MYO7Ac.6615G>C (p.Met2205Ile)
c.4416G>C
c.6468G>C (p.Met2156Ile)
c.4041G>C (p.Met1347Ile)
c.6495G>C (p.Met2165Ile)
n.5165G>C
n.2129G>C
c.6498G>C (p.Met2166Ile)
c.6501G>C (p.Met2167Ile)
n.6909G>C
c.6705G>C (p.Met2235Ile)
c.6588G>C (p.Met2196Ile)
c.6591G>C (p.Met2197Ile)
n.6694G>C
n.6680G>C
 gnomAD v4
11g.77214663G=CA1984131535MYO7Ac.6615G= (p.Met2205=)
c.4416G=
c.6468G= (p.Met2156=)
c.4041G= (p.Met1347=)
c.6495G= (p.Met2165=)
n.5165G=
n.2129G=
c.6498G= (p.Met2166=)
c.6501G= (p.Met2167=)
n.6909G=
c.6705G= (p.Met2235=)
c.6588G= (p.Met2196=)
c.6591G= (p.Met2197=)
n.6694G=
n.6680G=
11g.77214663G>TCA6199135MYO7Ac.6615G>T (p.Met2205Ile)
c.4416G>T
c.6468G>T (p.Met2156Ile)
c.4041G>T (p.Met1347Ile)
c.6495G>T (p.Met2165Ile)
n.5165G>T
n.2129G>T
c.6498G>T (p.Met2166Ile)
c.6501G>T (p.Met2167Ile)
n.6909G>T
c.6705G>T (p.Met2235Ile)
c.6588G>T (p.Met2196Ile)
c.6591G>T (p.Met2197Ile)
n.6694G>T
n.6680G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77214667_77214687dupCA1984131536MYO7Ac.6619_6639dup (p.Ser2213_Gly2214insLysGlnArgGlySerArgSer)
c.4420_4440dup
c.6472_6492dup (p.Ser2164_Gly2165insLysGlnArgGlySerArgSer)
c.4045_4065dup (p.Ser1355_Gly1356insLysGlnArgGlySerArgSer)
c.6499_6519dup (p.Ser2173_Gly2174insLysGlnArgGlySerArgSer)
n.5169_5189dup
n.2133_2153dup
c.6502_6522dup (p.Ser2174_Gly2175insLysGlnArgGlySerArgSer)
c.6505_6525dup (p.Ser2175_Gly2176insLysGlnArgGlySerArgSer)
n.6913_6933dup
c.6709_6729dup (p.Ser2243_Gly2244insLysGlnArgGlySerArgSer)
c.6592_6612dup (p.Ser2204_Gly2205insLysGlnArgGlySerArgSer)
c.6595_6615dup (p.Ser2205_Gly2206insLysGlnArgGlySerArgSer)
n.6698_6718dup
n.6684_6704dup
 dbSNP
11g.77214664A>CCA381939406MYO7Ac.6616A>C (p.Ser2206Arg)
c.4417A>C
c.6469A>C (p.Ser2157Arg)
c.4042A>C (p.Ser1348Arg)
c.6496A>C (p.Ser2166Arg)
n.5166A>C
n.2130A>C
c.6499A>C (p.Ser2167Arg)
c.6502A>C (p.Ser2168Arg)
n.6910A>C
c.6706A>C (p.Ser2236Arg)
c.6589A>C (p.Ser2197Arg)
c.6592A>C (p.Ser2198Arg)
n.6695A>C
n.6681A>C
11g.77214664A>GCA381939408MYO7Ac.6616A>G (p.Ser2206Gly)
c.4417A>G
c.6469A>G (p.Ser2157Gly)
c.4042A>G (p.Ser1348Gly)
c.6496A>G (p.Ser2166Gly)
n.5166A>G
n.2130A>G
c.6499A>G (p.Ser2167Gly)
c.6502A>G (p.Ser2168Gly)
n.6910A>G
c.6706A>G (p.Ser2236Gly)
c.6589A>G (p.Ser2197Gly)
c.6592A>G (p.Ser2198Gly)
n.6695A>G
n.6681A>G
 gnomAD v4
11g.77214664A>TCA381939410MYO7Ac.6616A>T (p.Ser2206Cys)
c.4417A>T
c.6469A>T (p.Ser2157Cys)
c.4042A>T (p.Ser1348Cys)
c.6496A>T (p.Ser2166Cys)
n.5166A>T
n.2130A>T
c.6499A>T (p.Ser2167Cys)
c.6502A>T (p.Ser2168Cys)
n.6910A>T
c.6706A>T (p.Ser2236Cys)
c.6589A>T (p.Ser2197Cys)
c.6592A>T (p.Ser2198Cys)
n.6695A>T
n.6681A>T
 gnomAD v4
11g.77214665G>ACA381939414MYO7Ac.6617G>A (p.Ser2206Asn)
c.4418G>A
c.6470G>A (p.Ser2157Asn)
c.4043G>A (p.Ser1348Asn)
c.6497G>A (p.Ser2166Asn)
n.5167G>A
n.2131G>A
c.6500G>A (p.Ser2167Asn)
c.6503G>A (p.Ser2168Asn)
n.6911G>A
c.6707G>A (p.Ser2236Asn)
c.6590G>A (p.Ser2197Asn)
c.6593G>A (p.Ser2198Asn)
n.6696G>A
n.6682G>A
 gnomAD v4
11g.77214665G>CCA381939416MYO7Ac.6617G>C (p.Ser2206Thr)
c.4418G>C
c.6470G>C (p.Ser2157Thr)
c.4043G>C (p.Ser1348Thr)
c.6497G>C (p.Ser2166Thr)
n.5167G>C
n.2131G>C
c.6500G>C (p.Ser2167Thr)
c.6503G>C (p.Ser2168Thr)
n.6911G>C
c.6707G>C (p.Ser2236Thr)
c.6590G>C (p.Ser2197Thr)
c.6593G>C (p.Ser2198Thr)
n.6696G>C
n.6682G>C
11g.77214665G>TCA381939418MYO7Ac.6617G>T (p.Ser2206Ile)
c.4418G>T
c.6470G>T (p.Ser2157Ile)
c.4043G>T (p.Ser1348Ile)
c.6497G>T (p.Ser2166Ile)
n.5167G>T
n.2131G>T
c.6500G>T (p.Ser2167Ile)
c.6503G>T (p.Ser2168Ile)
n.6911G>T
c.6707G>T (p.Ser2236Ile)
c.6590G>T (p.Ser2197Ile)
c.6593G>T (p.Ser2198Ile)
n.6696G>T
n.6682G>T
11g.77214666C>ACA381939421MYO7Ac.6618C>A (p.Ser2206Arg)
c.4419C>A
c.6471C>A (p.Ser2157Arg)
c.4044C>A (p.Ser1348Arg)
c.6498C>A (p.Ser2166Arg)
n.5168C>A
n.2132C>A
c.6501C>A (p.Ser2167Arg)
c.6504C>A (p.Ser2168Arg)
n.6912C>A
c.6708C>A (p.Ser2236Arg)
c.6591C>A (p.Ser2197Arg)
c.6594C>A (p.Ser2198Arg)
n.6697C>A
n.6683C>A
 dbSNP
11g.77214666C=CA1984131537MYO7Ac.6618C= (p.Ser2206=)
c.4419C=
c.6471C= (p.Ser2157=)
c.4044C= (p.Ser1348=)
c.6498C= (p.Ser2166=)
n.5168C=
n.2132C=
c.6501C= (p.Ser2167=)
c.6504C= (p.Ser2168=)
n.6912C=
c.6708C= (p.Ser2236=)
c.6591C= (p.Ser2197=)
c.6594C= (p.Ser2198=)
n.6697C=
n.6683C=
11g.77214666C>GCA381939424MYO7Ac.6618C>G (p.Ser2206Arg)
c.4419C>G
c.6471C>G (p.Ser2157Arg)
c.4044C>G (p.Ser1348Arg)
c.6498C>G (p.Ser2166Arg)
n.5168C>G
n.2132C>G
c.6501C>G (p.Ser2167Arg)
c.6504C>G (p.Ser2168Arg)
n.6912C>G
c.6708C>G (p.Ser2236Arg)
c.6591C>G (p.Ser2197Arg)
c.6594C>G (p.Ser2198Arg)
n.6697C>G
n.6683C>G
 gnomAD v4
11g.77214666C>TCA475792814MYO7Ac.6618C>T (p.Ser2206=)
c.4419C>T
c.6471C>T (p.Ser2157=)
c.4044C>T (p.Ser1348=)
c.6498C>T (p.Ser2166=)
n.5168C>T
n.2132C>T
c.6501C>T (p.Ser2167=)
c.6504C>T (p.Ser2168=)
n.6912C>T
c.6708C>T (p.Ser2236=)
c.6591C>T (p.Ser2197=)
c.6594C>T (p.Ser2198=)
n.6697C>T
n.6683C>T
 gnomAD v4
11g.77214667A>CCA381939427MYO7Ac.6619A>C (p.Lys2207Gln)
c.4420A>C
c.6472A>C (p.Lys2158Gln)
c.4045A>C (p.Lys1349Gln)
c.6499A>C (p.Lys2167Gln)
n.5169A>C
n.2133A>C
c.6502A>C (p.Lys2168Gln)
c.6505A>C (p.Lys2169Gln)
n.6913A>C
c.6709A>C (p.Lys2237Gln)
c.6592A>C (p.Lys2198Gln)
c.6595A>C (p.Lys2199Gln)
n.6698A>C
n.6684A>C
11g.77214667A>GCA381939429MYO7Ac.6619A>G (p.Lys2207Glu)
c.4420A>G
c.6472A>G (p.Lys2158Glu)
c.4045A>G (p.Lys1349Glu)
c.6499A>G (p.Lys2167Glu)
n.5169A>G
n.2133A>G
c.6502A>G (p.Lys2168Glu)
c.6505A>G (p.Lys2169Glu)
n.6913A>G
c.6709A>G (p.Lys2237Glu)
c.6592A>G (p.Lys2198Glu)
c.6595A>G (p.Lys2199Glu)
n.6698A>G
n.6684A>G
11g.77214667A>TCA381939431MYO7Ac.6619A>T (p.Lys2207Ter)
c.4420A>T
c.6472A>T (p.Lys2158Ter)
c.4045A>T (p.Lys1349Ter)
c.6499A>T (p.Lys2167Ter)
n.5169A>T
n.2133A>T
c.6502A>T (p.Lys2168Ter)
c.6505A>T (p.Lys2169Ter)
n.6913A>T
c.6709A>T (p.Lys2237Ter)
c.6592A>T (p.Lys2198Ter)
c.6595A>T (p.Lys2199Ter)
n.6698A>T
n.6684A>T
 ClinVar
11g.77214668A=CA1984131538MYO7Ac.6620A= (p.Lys2207=)
c.4421A=
c.6473A= (p.Lys2158=)
c.4046A= (p.Lys1349=)
c.6500A= (p.Lys2167=)
n.5170A=
n.2134A=
c.6503A= (p.Lys2168=)
c.6506A= (p.Lys2169=)
n.6914A=
c.6710A= (p.Lys2237=)
c.6593A= (p.Lys2198=)
c.6596A= (p.Lys2199=)
n.6699A=
n.6685A=
11g.77214668A>CCA381939434MYO7Ac.6620A>C (p.Lys2207Thr)
c.4421A>C
c.6473A>C (p.Lys2158Thr)
c.4046A>C (p.Lys1349Thr)
c.6500A>C (p.Lys2167Thr)
n.5170A>C
n.2134A>C
c.6503A>C (p.Lys2168Thr)
c.6506A>C (p.Lys2169Thr)
n.6914A>C
c.6710A>C (p.Lys2237Thr)
c.6593A>C (p.Lys2198Thr)
c.6596A>C (p.Lys2199Thr)
n.6699A>C
n.6685A>C
11g.77214668A>GCA381939437MYO7Ac.6620A>G (p.Lys2207Arg)
c.4421A>G
c.6473A>G (p.Lys2158Arg)
c.4046A>G (p.Lys1349Arg)
c.6500A>G (p.Lys2167Arg)
n.5170A>G
n.2134A>G
c.6503A>G (p.Lys2168Arg)
c.6506A>G (p.Lys2169Arg)
n.6914A>G
c.6710A>G (p.Lys2237Arg)
c.6593A>G (p.Lys2198Arg)
c.6596A>G (p.Lys2199Arg)
n.6699A>G
n.6685A>G
 dbSNP gnomAD v3 gnomAD v4
11g.77214668A>TCA381939439MYO7Ac.6620A>T (p.Lys2207Ile)
c.4421A>T
c.6473A>T (p.Lys2158Ile)
c.4046A>T (p.Lys1349Ile)
c.6500A>T (p.Lys2167Ile)
n.5170A>T
n.2134A>T
c.6503A>T (p.Lys2168Ile)
c.6506A>T (p.Lys2169Ile)
n.6914A>T
c.6710A>T (p.Lys2237Ile)
c.6593A>T (p.Lys2198Ile)
c.6596A>T (p.Lys2199Ile)
n.6699A>T
n.6685A>T
 gnomAD v4
11g.77214669A>CCA381939441MYO7Ac.6621A>C (p.Lys2207Asn)
c.4422A>C
c.6474A>C (p.Lys2158Asn)
c.4047A>C (p.Lys1349Asn)
c.6501A>C (p.Lys2167Asn)
n.5171A>C
n.2135A>C
c.6504A>C (p.Lys2168Asn)
c.6507A>C (p.Lys2169Asn)
n.6915A>C
c.6711A>C (p.Lys2237Asn)
c.6594A>C (p.Lys2198Asn)
c.6597A>C (p.Lys2199Asn)
n.6700A>C
n.6686A>C
11g.77214669A>GCA475792818MYO7Ac.6621A>G (p.Lys2207=)
c.4422A>G
c.6474A>G (p.Lys2158=)
c.4047A>G (p.Lys1349=)
c.6501A>G (p.Lys2167=)
n.5171A>G
n.2135A>G
c.6504A>G (p.Lys2168=)
c.6507A>G (p.Lys2169=)
n.6915A>G
c.6711A>G (p.Lys2237=)
c.6594A>G (p.Lys2198=)
c.6597A>G (p.Lys2199=)
n.6700A>G
n.6686A>G
 gnomAD v4
11g.77214669A>TCA381939443MYO7Ac.6621A>T (p.Lys2207Asn)
c.4422A>T
c.6474A>T (p.Lys2158Asn)
c.4047A>T (p.Lys1349Asn)
c.6501A>T (p.Lys2167Asn)
n.5171A>T
n.2135A>T
c.6504A>T (p.Lys2168Asn)
c.6507A>T (p.Lys2169Asn)
n.6915A>T
c.6711A>T (p.Lys2237Asn)
c.6594A>T (p.Lys2198Asn)
c.6597A>T (p.Lys2199Asn)
n.6700A>T
n.6686A>T
11g.77214670C>ACA381939445MYO7Ac.6622C>A (p.Gln2208Lys)
c.4423C>A
c.6475C>A (p.Gln2159Lys)
c.4048C>A (p.Gln1350Lys)
c.6502C>A (p.Gln2168Lys)
n.5172C>A
n.2136C>A
c.6505C>A (p.Gln2169Lys)
c.6508C>A (p.Gln2170Lys)
n.6916C>A
c.6712C>A (p.Gln2238Lys)
c.6595C>A (p.Gln2199Lys)
c.6598C>A (p.Gln2200Lys)
n.6701C>A
n.6687C>A
 gnomAD v4
11g.77214670C=CA1984131539MYO7Ac.6622C= (p.Gln2208=)
c.4423C=
c.6475C= (p.Gln2159=)
c.4048C= (p.Gln1350=)
c.6502C= (p.Gln2168=)
n.5172C=
n.2136C=
c.6505C= (p.Gln2169=)
c.6508C= (p.Gln2170=)
n.6916C=
c.6712C= (p.Gln2238=)
c.6595C= (p.Gln2199=)
c.6598C= (p.Gln2200=)
n.6701C=
n.6687C=
11g.77214670C>GCA381939446MYO7Ac.6622C>G (p.Gln2208Glu)
c.4423C>G
c.6475C>G (p.Gln2159Glu)
c.4048C>G (p.Gln1350Glu)
c.6502C>G (p.Gln2168Glu)
n.5172C>G
n.2136C>G
c.6505C>G (p.Gln2169Glu)
c.6508C>G (p.Gln2170Glu)
n.6916C>G
c.6712C>G (p.Gln2238Glu)
c.6595C>G (p.Gln2199Glu)
c.6598C>G (p.Gln2200Glu)
n.6701C>G
n.6687C>G
 dbSNP
11g.77214670C>TCA6199136MYO7Ac.6622C>T (p.Gln2208Ter)
c.4423C>T
c.6475C>T (p.Gln2159Ter)
c.4048C>T (p.Gln1350Ter)
c.6502C>T (p.Gln2168Ter)
n.5172C>T
n.2136C>T
c.6505C>T (p.Gln2169Ter)
c.6508C>T (p.Gln2170Ter)
n.6916C>T
c.6712C>T (p.Gln2238Ter)
c.6595C>T (p.Gln2199Ter)
c.6598C>T (p.Gln2200Ter)
n.6701C>T
n.6687C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77214671A>CCA381939456MYO7Ac.6623A>C (p.Gln2208Pro)
c.4424A>C
c.6476A>C (p.Gln2159Pro)
c.4049A>C (p.Gln1350Pro)
c.6503A>C (p.Gln2168Pro)
n.5173A>C
n.2137A>C
c.6506A>C (p.Gln2169Pro)
c.6509A>C (p.Gln2170Pro)
n.6917A>C
c.6713A>C (p.Gln2238Pro)
c.6596A>C (p.Gln2199Pro)
c.6599A>C (p.Gln2200Pro)
n.6702A>C
n.6688A>C
11g.77214671A>GCA381939453MYO7Ac.6623A>G (p.Gln2208Arg)
c.4424A>G
c.6476A>G (p.Gln2159Arg)
c.4049A>G (p.Gln1350Arg)
c.6503A>G (p.Gln2168Arg)
n.5173A>G
n.2137A>G
c.6506A>G (p.Gln2169Arg)
c.6509A>G (p.Gln2170Arg)
n.6917A>G
c.6713A>G (p.Gln2238Arg)
c.6596A>G (p.Gln2199Arg)
c.6599A>G (p.Gln2200Arg)
n.6702A>G
n.6688A>G
11g.77214671A>TCA381939451MYO7Ac.6623A>T (p.Gln2208Leu)
c.4424A>T
c.6476A>T (p.Gln2159Leu)
c.4049A>T (p.Gln1350Leu)
c.6503A>T (p.Gln2168Leu)
n.5173A>T
n.2137A>T
c.6506A>T (p.Gln2169Leu)
c.6509A>T (p.Gln2170Leu)
n.6917A>T
c.6713A>T (p.Gln2238Leu)
c.6596A>T (p.Gln2199Leu)
c.6599A>T (p.Gln2200Leu)
n.6702A>T
n.6688A>T
 gnomAD v4
11g.77214672G>ACA475792821MYO7Ac.6624G>A (p.Gln2208=)
c.4425G>A
c.6477G>A (p.Gln2159=)
c.4050G>A (p.Gln1350=)
c.6504G>A (p.Gln2168=)
n.5174G>A
n.2138G>A
c.6507G>A (p.Gln2169=)
c.6510G>A (p.Gln2170=)
n.6918G>A
c.6714G>A (p.Gln2238=)
c.6597G>A (p.Gln2199=)
c.6600G>A (p.Gln2200=)
n.6703G>A
n.6689G>A
11g.77214672G>CCA381939460MYO7Ac.6624G>C (p.Gln2208His)
c.4425G>C
c.6477G>C (p.Gln2159His)
c.4050G>C (p.Gln1350His)
c.6504G>C (p.Gln2168His)
n.5174G>C
n.2138G>C
c.6507G>C (p.Gln2169His)
c.6510G>C (p.Gln2170His)
n.6918G>C
c.6714G>C (p.Gln2238His)
c.6597G>C (p.Gln2199His)
c.6600G>C (p.Gln2200His)
n.6703G>C
n.6689G>C
11g.77214672G>TCA381939462MYO7Ac.6624G>T (p.Gln2208His)
c.4425G>T
c.6477G>T (p.Gln2159His)
c.4050G>T (p.Gln1350His)
c.6504G>T (p.Gln2168His)
n.5174G>T
n.2138G>T
c.6507G>T (p.Gln2169His)
c.6510G>T (p.Gln2170His)
n.6918G>T
c.6714G>T (p.Gln2238His)
c.6597G>T (p.Gln2199His)
c.6600G>T (p.Gln2200His)
n.6703G>T
n.6689G>T
 gnomAD v4
11g.77214673delCA2615269264MYO7Ac.6625del (p.Arg2209GlyfsTer?)
c.4426del
c.6478del (p.Arg2160GlyfsTer?)
c.4051del (p.Arg1351GlyfsTer?)
c.6505del (p.Arg2169GlyfsTer?)
n.5175del
n.2139del
c.6508del (p.Arg2170GlyfsTer?)
c.6511del (p.Arg2171GlyfsTer?)
n.6919del
c.6715del (p.Arg2239GlyfsTer?)
c.6598del (p.Arg2200GlyfsTer?)
c.6601del (p.Arg2201GlyfsTer?)
n.6704del
n.6690del
 gnomAD v4
11g.77214673C>ACA6199137MYO7Ac.6625C>A (p.Arg2209=)
c.4426C>A
c.6478C>A (p.Arg2160=)
c.4051C>A (p.Arg1351=)
c.6505C>A (p.Arg2169=)
n.5175C>A
n.2139C>A
c.6508C>A (p.Arg2170=)
c.6511C>A (p.Arg2171=)
n.6919C>A
c.6715C>A (p.Arg2239=)
c.6598C>A (p.Arg2200=)
c.6601C>A (p.Arg2201=)
n.6704C>A
n.6690C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77214673C=CA1984131540MYO7Ac.6625C= (p.Arg2209=)
c.4426C=
c.6478C= (p.Arg2160=)
c.4051C= (p.Arg1351=)
c.6505C= (p.Arg2169=)
n.5175C=
n.2139C=
c.6508C= (p.Arg2170=)
c.6511C= (p.Arg2171=)
n.6919C=
c.6715C= (p.Arg2239=)
c.6598C= (p.Arg2200=)
c.6601C= (p.Arg2201=)
n.6704C=
n.6690C=
11g.77214673C>GCA381939465MYO7Ac.6625C>G (p.Arg2209Gly)
c.4426C>G
c.6478C>G (p.Arg2160Gly)
c.4051C>G (p.Arg1351Gly)
c.6505C>G (p.Arg2169Gly)
n.5175C>G
n.2139C>G
c.6508C>G (p.Arg2170Gly)
c.6511C>G (p.Arg2171Gly)
n.6919C>G
c.6715C>G (p.Arg2239Gly)
c.6598C>G (p.Arg2200Gly)
c.6601C>G (p.Arg2201Gly)
n.6704C>G
n.6690C>G
11g.77214673C>TCA381939468MYO7Ac.6625C>T (p.Arg2209Trp)
c.4426C>T
c.6478C>T (p.Arg2160Trp)
c.4051C>T (p.Arg1351Trp)
c.6505C>T (p.Arg2169Trp)
n.5175C>T
n.2139C>T
c.6508C>T (p.Arg2170Trp)
c.6511C>T (p.Arg2171Trp)
n.6919C>T
c.6715C>T (p.Arg2239Trp)
c.6598C>T (p.Arg2200Trp)
c.6601C>T (p.Arg2201Trp)
n.6704C>T
n.6690C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77214674G>ACA6199138MYO7Ac.6626G>A (p.Arg2209Gln)
c.4427G>A
c.6479G>A (p.Arg2160Gln)
c.4052G>A (p.Arg1351Gln)
c.6506G>A (p.Arg2169Gln)
n.5176G>A
n.2140G>A
c.6509G>A (p.Arg2170Gln)
c.6512G>A (p.Arg2171Gln)
n.6920G>A
c.6716G>A (p.Arg2239Gln)
c.6599G>A (p.Arg2200Gln)
c.6602G>A (p.Arg2201Gln)
n.6705G>A
n.6691G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77214674G>CCA224830649MYO7Ac.6626G>C (p.Arg2209Pro)
c.4427G>C
c.6479G>C (p.Arg2160Pro)
c.4052G>C (p.Arg1351Pro)
c.6506G>C (p.Arg2169Pro)
n.5176G>C
n.2140G>C
c.6509G>C (p.Arg2170Pro)
c.6512G>C (p.Arg2171Pro)
n.6920G>C
c.6716G>C (p.Arg2239Pro)
c.6599G>C (p.Arg2200Pro)
c.6602G>C (p.Arg2201Pro)
n.6705G>C
n.6691G>C
 dbSNP
11g.77214674G=CA1984131541MYO7Ac.6626G= (p.Arg2209=)
c.4427G=
c.6479G= (p.Arg2160=)
c.4052G= (p.Arg1351=)
c.6506G= (p.Arg2169=)
n.5176G=
n.2140G=
c.6509G= (p.Arg2170=)
c.6512G= (p.Arg2171=)
n.6920G=
c.6716G= (p.Arg2239=)
c.6599G= (p.Arg2200=)
c.6602G= (p.Arg2201=)
n.6705G=
n.6691G=
11g.77214674G>TCA381939474MYO7Ac.6626G>T (p.Arg2209Leu)
c.4427G>T
c.6479G>T (p.Arg2160Leu)
c.4052G>T (p.Arg1351Leu)
c.6506G>T (p.Arg2169Leu)
n.5176G>T
n.2140G>T
c.6509G>T (p.Arg2170Leu)
c.6512G>T (p.Arg2171Leu)
n.6920G>T
c.6716G>T (p.Arg2239Leu)
c.6599G>T (p.Arg2200Leu)
c.6602G>T (p.Arg2201Leu)
n.6705G>T
n.6691G>T
 gnomAD v4
11g.77214675G>ACA475792825MYO7Ac.6627G>A (p.Arg2209=)
c.4428G>A
c.6480G>A (p.Arg2160=)
c.4053G>A (p.Arg1351=)
c.6507G>A (p.Arg2169=)
n.5177G>A
n.2141G>A
c.6510G>A (p.Arg2170=)
c.6513G>A (p.Arg2171=)
n.6921G>A
c.6717G>A (p.Arg2239=)
c.6600G>A (p.Arg2200=)
c.6603G>A (p.Arg2201=)
n.6706G>A
n.6692G>A
11g.77214675G>CCA475792826MYO7Ac.6627G>C (p.Arg2209=)
c.4428G>C
c.6480G>C (p.Arg2160=)
c.4053G>C (p.Arg1351=)
c.6507G>C (p.Arg2169=)
n.5177G>C
n.2141G>C
c.6510G>C (p.Arg2170=)
c.6513G>C (p.Arg2171=)
n.6921G>C
c.6717G>C (p.Arg2239=)
c.6600G>C (p.Arg2200=)
c.6603G>C (p.Arg2201=)
n.6706G>C
n.6692G>C
11g.77214675G>TCA475792827MYO7Ac.6627G>T (p.Arg2209=)
c.4428G>T
c.6480G>T (p.Arg2160=)
c.4053G>T (p.Arg1351=)
c.6507G>T (p.Arg2169=)
n.5177G>T
n.2141G>T
c.6510G>T (p.Arg2170=)
c.6513G>T (p.Arg2171=)
n.6921G>T
c.6717G>T (p.Arg2239=)
c.6600G>T (p.Arg2200=)
c.6603G>T (p.Arg2201=)
n.6706G>T
n.6692G>T
 gnomAD v4
11g.77214675_77214691delCA912973159MYO7Ac.6627_6643del (p.Gly2210ValfsTer?)
c.4428_4444del
c.6480_6496del (p.Gly2161ValfsTer?)
c.4053_4069del (p.Gly1352ValfsTer?)
c.6507_6523del (p.Gly2170ValfsTer?)
n.5177_5193del
n.2141_2157del
c.6510_6526del (p.Gly2171ValfsTer?)
c.6513_6529del (p.Gly2172ValfsTer?)
n.6921_6937del
c.6717_6733del (p.Gly2240ValfsTer?)
c.6600_6616del (p.Gly2201ValfsTer?)
c.6603_6619del (p.Gly2202ValfsTer?)
n.6706_6722del
n.6692_6708del
11g.77214675_77214691delinsGGGCTCCAGGAGCGGCACA1984131542MYO7Ac.6627_6643delinsGGGCTCCAGGAGCGGCA (p.Arg2209=)
c.4428_4444delinsGGGCTCCAGGAGCGGCA
c.6480_6496delinsGGGCTCCAGGAGCGGCA (p.Arg2160=)
c.4053_4069delinsGGGCTCCAGGAGCGGCA (p.Arg1351=)
c.6507_6523delinsGGGCTCCAGGAGCGGCA (p.Arg2169=)
n.5177_5193delinsGGGCTCCAGGAGCGGCA
n.2141_2157delinsGGGCTCCAGGAGCGGCA
c.6510_6526delinsGGGCTCCAGGAGCGGCA (p.Arg2170=)
c.6513_6529delinsGGGCTCCAGGAGCGGCA (p.Arg2171=)
n.6921_6937delinsGGGCTCCAGGAGCGGCA
c.6717_6733delinsGGGCTCCAGGAGCGGCA (p.Arg2239=)
c.6600_6616delinsGGGCTCCAGGAGCGGCA (p.Arg2200=)
c.6603_6619delinsGGGCTCCAGGAGCGGCA (p.Arg2201=)
n.6706_6722delinsGGGCTCCAGGAGCGGCA
n.6692_6708delinsGGGCTCCAGGAGCGGCA
11g.77214676G>ACA381939476MYO7Ac.6628G>A (p.Gly2210Ser)
c.4429G>A
c.6481G>A (p.Gly2161Ser)
c.4054G>A (p.Gly1352Ser)
c.6508G>A (p.Gly2170Ser)
n.5178G>A
n.2142G>A
c.6511G>A (p.Gly2171Ser)
c.6514G>A (p.Gly2172Ser)
n.6922G>A
c.6718G>A (p.Gly2240Ser)
c.6601G>A (p.Gly2201Ser)
c.6604G>A (p.Gly2202Ser)
n.6707G>A
n.6693G>A
11g.77214676G>CCA6199139MYO7Ac.6628G>C (p.Gly2210Arg)
c.4429G>C
c.6481G>C (p.Gly2161Arg)
c.4054G>C (p.Gly1352Arg)
c.6508G>C (p.Gly2170Arg)
n.5178G>C
n.2142G>C
c.6511G>C (p.Gly2171Arg)
c.6514G>C (p.Gly2172Arg)
n.6922G>C
c.6718G>C (p.Gly2240Arg)
c.6601G>C (p.Gly2201Arg)
c.6604G>C (p.Gly2202Arg)
n.6707G>C
n.6693G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77214676G=CA1984131543MYO7Ac.6628G= (p.Gly2210=)
c.4429G=
c.6481G= (p.Gly2161=)
c.4054G= (p.Gly1352=)
c.6508G= (p.Gly2170=)
n.5178G=
n.2142G=
c.6511G= (p.Gly2171=)
c.6514G= (p.Gly2172=)
n.6922G=
c.6718G= (p.Gly2240=)
c.6601G= (p.Gly2201=)
c.6604G= (p.Gly2202=)
n.6707G=
n.6693G=
11g.77214676G>TCA381939479MYO7Ac.6628G>T (p.Gly2210Cys)
c.4429G>T
c.6481G>T (p.Gly2161Cys)
c.4054G>T (p.Gly1352Cys)
c.6508G>T (p.Gly2170Cys)
n.5178G>T
n.2142G>T
c.6511G>T (p.Gly2171Cys)
c.6514G>T (p.Gly2172Cys)
n.6922G>T
c.6718G>T (p.Gly2240Cys)
c.6601G>T (p.Gly2201Cys)
c.6604G>T (p.Gly2202Cys)
n.6707G>T
n.6693G>T
 gnomAD v4
11g.77214676_77214691delCA658821724MYO7Ac.6628_6643del (p.Gly2210SerfsTer?)
c.4429_4444del
c.6481_6496del (p.Gly2161SerfsTer?)
c.4054_4069del (p.Gly1352SerfsTer?)
c.6508_6523del (p.Gly2170SerfsTer?)
n.5178_5193del
n.2142_2157del
c.6511_6526del (p.Gly2171SerfsTer?)
c.6514_6529del (p.Gly2172SerfsTer?)
n.6922_6937del
c.6718_6733del (p.Gly2240SerfsTer?)
c.6601_6616del (p.Gly2201SerfsTer?)
c.6604_6619del (p.Gly2202SerfsTer?)
n.6707_6722del
n.6693_6708del
 ClinVar dbSNP
11g.77214677G>ACA6199140MYO7Ac.6629G>A (p.Gly2210Asp)
c.4430G>A
c.6482G>A (p.Gly2161Asp)
c.4055G>A (p.Gly1352Asp)
c.6509G>A (p.Gly2170Asp)
n.5179G>A
n.2143G>A
c.6512G>A (p.Gly2171Asp)
c.6515G>A (p.Gly2172Asp)
n.6923G>A
c.6719G>A (p.Gly2240Asp)
c.6602G>A (p.Gly2201Asp)
c.6605G>A (p.Gly2202Asp)
n.6708G>A
n.6694G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77214677G>CCA381939482MYO7Ac.6629G>C (p.Gly2210Ala)
c.4430G>C
c.6482G>C (p.Gly2161Ala)
c.4055G>C (p.Gly1352Ala)
c.6509G>C (p.Gly2170Ala)
n.5179G>C
n.2143G>C
c.6512G>C (p.Gly2171Ala)
c.6515G>C (p.Gly2172Ala)
n.6923G>C
c.6719G>C (p.Gly2240Ala)
c.6602G>C (p.Gly2201Ala)
c.6605G>C (p.Gly2202Ala)
n.6708G>C
n.6694G>C
11g.77214677G=CA1984131544MYO7Ac.6629G= (p.Gly2210=)
c.4430G=
c.6482G= (p.Gly2161=)
c.4055G= (p.Gly1352=)
c.6509G= (p.Gly2170=)
n.5179G=
n.2143G=
c.6512G= (p.Gly2171=)
c.6515G= (p.Gly2172=)
n.6923G=
c.6719G= (p.Gly2240=)
c.6602G= (p.Gly2201=)
c.6605G= (p.Gly2202=)
n.6708G=
n.6694G=
11g.77214677G>TCA381939484MYO7Ac.6629G>T (p.Gly2210Val)
c.4430G>T
c.6482G>T (p.Gly2161Val)
c.4055G>T (p.Gly1352Val)
c.6509G>T (p.Gly2170Val)
n.5179G>T
n.2143G>T
c.6512G>T (p.Gly2171Val)
c.6515G>T (p.Gly2172Val)
n.6923G>T
c.6719G>T (p.Gly2240Val)
c.6602G>T (p.Gly2201Val)
c.6605G>T (p.Gly2202Val)
n.6708G>T
n.6694G>T
 dbSNP gnomAD v2 gnomAD v4
11g.77214678C>ACA224830666MYO7Ac.6630C>A (p.Gly2210=)
c.4431C>A
c.6483C>A (p.Gly2161=)
c.4056C>A (p.Gly1352=)
c.6510C>A (p.Gly2170=)
n.5180C>A
n.2144C>A
c.6513C>A (p.Gly2171=)
c.6516C>A (p.Gly2172=)
n.6924C>A
c.6720C>A (p.Gly2240=)
c.6603C>A (p.Gly2201=)
c.6606C>A (p.Gly2202=)
n.6709C>A
n.6695C>A
 dbSNP gnomAD v4
11g.77214678C=CA1984131545MYO7Ac.6630C= (p.Gly2210=)
c.4431C=
c.6483C= (p.Gly2161=)
c.4056C= (p.Gly1352=)
c.6510C= (p.Gly2170=)
n.5180C=
n.2144C=
c.6513C= (p.Gly2171=)
c.6516C= (p.Gly2172=)
n.6924C=
c.6720C= (p.Gly2240=)
c.6603C= (p.Gly2201=)
c.6606C= (p.Gly2202=)
n.6709C=
n.6695C=
11g.77214678C>GCA475792828MYO7Ac.6630C>G (p.Gly2210=)
c.4431C>G
c.6483C>G (p.Gly2161=)
c.4056C>G (p.Gly1352=)
c.6510C>G (p.Gly2170=)
n.5180C>G
n.2144C>G
c.6513C>G (p.Gly2171=)
c.6516C>G (p.Gly2172=)
n.6924C>G
c.6720C>G (p.Gly2240=)
c.6603C>G (p.Gly2201=)
c.6606C>G (p.Gly2202=)
n.6709C>G
n.6695C>G
11g.77214678C>TCA475792830MYO7Ac.6630C>T (p.Gly2210=)
c.4431C>T
c.6483C>T (p.Gly2161=)
c.4056C>T (p.Gly1352=)
c.6510C>T (p.Gly2170=)
n.5180C>T
n.2144C>T
c.6513C>T (p.Gly2171=)
c.6516C>T (p.Gly2172=)
n.6924C>T
c.6720C>T (p.Gly2240=)
c.6603C>T (p.Gly2201=)
c.6606C>T (p.Gly2202=)
n.6709C>T
n.6695C>T
 ClinVar
11g.77214679T>ACA381939488MYO7Ac.6631T>A (p.Ser2211Thr)
c.4432T>A
c.6484T>A (p.Ser2162Thr)
c.4057T>A (p.Ser1353Thr)
c.6511T>A (p.Ser2171Thr)
n.5181T>A
n.2145T>A
c.6514T>A (p.Ser2172Thr)
c.6517T>A (p.Ser2173Thr)
n.6925T>A
c.6721T>A (p.Ser2241Thr)
c.6604T>A (p.Ser2202Thr)
c.6607T>A (p.Ser2203Thr)
n.6710T>A
n.6696T>A
11g.77214679T>CCA381939490MYO7Ac.6631T>C (p.Ser2211Pro)
c.4432T>C
c.6484T>C (p.Ser2162Pro)
c.4057T>C (p.Ser1353Pro)
c.6511T>C (p.Ser2171Pro)
n.5181T>C
n.2145T>C
c.6514T>C (p.Ser2172Pro)
c.6517T>C (p.Ser2173Pro)
n.6925T>C
c.6721T>C (p.Ser2241Pro)
c.6604T>C (p.Ser2202Pro)
c.6607T>C (p.Ser2203Pro)
n.6710T>C
n.6696T>C
 gnomAD v4
11g.77214679T>GCA381939492MYO7Ac.6631T>G (p.Ser2211Ala)
c.4432T>G
c.6484T>G (p.Ser2162Ala)
c.4057T>G (p.Ser1353Ala)
c.6511T>G (p.Ser2171Ala)
n.5181T>G
n.2145T>G
c.6514T>G (p.Ser2172Ala)
c.6517T>G (p.Ser2173Ala)
n.6925T>G
c.6721T>G (p.Ser2241Ala)
c.6604T>G (p.Ser2202Ala)
c.6607T>G (p.Ser2203Ala)
n.6710T>G
n.6696T>G
11g.77214680C>ACA381939494MYO7Ac.6632C>A (p.Ser2211Tyr)
c.4433C>A
c.6485C>A (p.Ser2162Tyr)
c.4058C>A (p.Ser1353Tyr)
c.6512C>A (p.Ser2171Tyr)
n.5182C>A
n.2146C>A
c.6515C>A (p.Ser2172Tyr)
c.6518C>A (p.Ser2173Tyr)
n.6926C>A
c.6722C>A (p.Ser2241Tyr)
c.6605C>A (p.Ser2202Tyr)
c.6608C>A (p.Ser2203Tyr)
n.6711C>A
n.6697C>A
 gnomAD v4
11g.77214680C=CA1984131546MYO7Ac.6632C= (p.Ser2211=)
c.4433C=
c.6485C= (p.Ser2162=)
c.4058C= (p.Ser1353=)
c.6512C= (p.Ser2171=)
n.5182C=
n.2146C=
c.6515C= (p.Ser2172=)
c.6518C= (p.Ser2173=)
n.6926C=
c.6722C= (p.Ser2241=)
c.6605C= (p.Ser2202=)
c.6608C= (p.Ser2203=)
n.6711C=
n.6697C=
11g.77214680C>GCA381939497MYO7Ac.6632C>G (p.Ser2211Cys)
c.4433C>G
c.6485C>G (p.Ser2162Cys)
c.4058C>G (p.Ser1353Cys)
c.6512C>G (p.Ser2171Cys)
n.5182C>G
n.2146C>G
c.6515C>G (p.Ser2172Cys)
c.6518C>G (p.Ser2173Cys)
n.6926C>G
c.6722C>G (p.Ser2241Cys)
c.6605C>G (p.Ser2202Cys)
c.6608C>G (p.Ser2203Cys)
n.6711C>G
n.6697C>G
11g.77214680C>TCA6199141MYO7Ac.6632C>T (p.Ser2211Phe)
c.4433C>T
c.6485C>T (p.Ser2162Phe)
c.4058C>T (p.Ser1353Phe)
c.6512C>T (p.Ser2171Phe)
n.5182C>T
n.2146C>T
c.6515C>T (p.Ser2172Phe)
c.6518C>T (p.Ser2173Phe)
n.6926C>T
c.6722C>T (p.Ser2241Phe)
c.6605C>T (p.Ser2202Phe)
c.6608C>T (p.Ser2203Phe)
n.6711C>T
n.6697C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77214681delCA2615269265MYO7Ac.6633del (p.Arg2212GlyfsTer?)
c.4434del
c.6486del (p.Arg2163GlyfsTer?)
c.4059del (p.Arg1354GlyfsTer?)
c.6513del (p.Arg2172GlyfsTer?)
n.5183del
n.2147del
c.6516del (p.Arg2173GlyfsTer?)
c.6519del (p.Arg2174GlyfsTer?)
n.6927del
c.6723del (p.Arg2242GlyfsTer?)
c.6606del (p.Arg2203GlyfsTer?)
c.6609del (p.Arg2204GlyfsTer?)
n.6712del
n.6698del
 gnomAD v4
11g.77214681C>ACA475792832MYO7Ac.6633C>A (p.Ser2211=)
c.4434C>A
c.6486C>A (p.Ser2162=)
c.4059C>A (p.Ser1353=)
c.6513C>A (p.Ser2171=)
n.5183C>A
n.2147C>A
c.6516C>A (p.Ser2172=)
c.6519C>A (p.Ser2173=)
n.6927C>A
c.6723C>A (p.Ser2241=)
c.6606C>A (p.Ser2202=)
c.6609C>A (p.Ser2203=)
n.6712C>A
n.6698C>A
 gnomAD v4
11g.77214681C=CA1984131547MYO7Ac.6633C= (p.Ser2211=)
c.4434C=
c.6486C= (p.Ser2162=)
c.4059C= (p.Ser1353=)
c.6513C= (p.Ser2171=)
n.5183C=
n.2147C=
c.6516C= (p.Ser2172=)
c.6519C= (p.Ser2173=)
n.6927C=
c.6723C= (p.Ser2241=)
c.6606C= (p.Ser2202=)
c.6609C= (p.Ser2203=)
n.6712C=
n.6698C=
11g.77214681C>GCA475792833MYO7Ac.6633C>G (p.Ser2211=)
c.4434C>G
c.6486C>G (p.Ser2162=)
c.4059C>G (p.Ser1353=)
c.6513C>G (p.Ser2171=)
n.5183C>G
n.2147C>G
c.6516C>G (p.Ser2172=)
c.6519C>G (p.Ser2173=)
n.6927C>G
c.6723C>G (p.Ser2241=)
c.6606C>G (p.Ser2202=)
c.6609C>G (p.Ser2203=)
n.6712C>G
n.6698C>G
 ClinVar dbSNP gnomAD v4
11g.77214681C>TCA475792834MYO7Ac.6633C>T (p.Ser2211=)
c.4434C>T
c.6486C>T (p.Ser2162=)
c.4059C>T (p.Ser1353=)
c.6513C>T (p.Ser2171=)
n.5183C>T
n.2147C>T
c.6516C>T (p.Ser2172=)
c.6519C>T (p.Ser2173=)
n.6927C>T
c.6723C>T (p.Ser2241=)
c.6606C>T (p.Ser2202=)
c.6609C>T (p.Ser2203=)
n.6712C>T
n.6698C>T
 dbSNP gnomAD v4
11g.77214682A>CCA475792835MYO7Ac.6634A>C (p.Arg2212=)
c.4435A>C
c.6487A>C (p.Arg2163=)
c.4060A>C (p.Arg1354=)
c.6514A>C (p.Arg2172=)
n.5184A>C
n.2148A>C
c.6517A>C (p.Arg2173=)
c.6520A>C (p.Arg2174=)
n.6928A>C
c.6724A>C (p.Arg2242=)
c.6607A>C (p.Arg2203=)
c.6610A>C (p.Arg2204=)
n.6713A>C
n.6699A>C
11g.77214682A>GCA381939500MYO7Ac.6634A>G (p.Arg2212Gly)
c.4435A>G
c.6487A>G (p.Arg2163Gly)
c.4060A>G (p.Arg1354Gly)
c.6514A>G (p.Arg2172Gly)
n.5184A>G
n.2148A>G
c.6517A>G (p.Arg2173Gly)
c.6520A>G (p.Arg2174Gly)
n.6928A>G
c.6724A>G (p.Arg2242Gly)
c.6607A>G (p.Arg2203Gly)
c.6610A>G (p.Arg2204Gly)
n.6713A>G
n.6699A>G
 gnomAD v4
11g.77214682A>TCA381939502MYO7Ac.6634A>T (p.Arg2212Trp)
c.4435A>T
c.6487A>T (p.Arg2163Trp)
c.4060A>T (p.Arg1354Trp)
c.6514A>T (p.Arg2172Trp)
n.5184A>T
n.2148A>T
c.6517A>T (p.Arg2173Trp)
c.6520A>T (p.Arg2174Trp)
n.6928A>T
c.6724A>T (p.Arg2242Trp)
c.6607A>T (p.Arg2203Trp)
c.6610A>T (p.Arg2204Trp)
n.6713A>T
n.6699A>T
11g.77214683G>ACA381939504MYO7Ac.6635G>A (p.Arg2212Lys)
c.4436G>A
c.6488G>A (p.Arg2163Lys)
c.4061G>A (p.Arg1354Lys)
c.6515G>A (p.Arg2172Lys)
n.5185G>A
n.2149G>A
c.6518G>A (p.Arg2173Lys)
c.6521G>A (p.Arg2174Lys)
n.6929G>A
c.6725G>A (p.Arg2242Lys)
c.6608G>A (p.Arg2203Lys)
c.6611G>A (p.Arg2204Lys)
n.6714G>A
n.6700G>A
 dbSNP gnomAD v4
11g.77214683G>CCA381939506MYO7Ac.6635G>C (p.Arg2212Thr)
c.4436G>C
c.6488G>C (p.Arg2163Thr)
c.4061G>C (p.Arg1354Thr)
c.6515G>C (p.Arg2172Thr)
n.5185G>C
n.2149G>C
c.6518G>C (p.Arg2173Thr)
c.6521G>C (p.Arg2174Thr)
n.6929G>C
c.6725G>C (p.Arg2242Thr)
c.6608G>C (p.Arg2203Thr)
c.6611G>C (p.Arg2204Thr)
n.6714G>C
n.6700G>C
11g.77214683G=CA1984131548MYO7Ac.6635G= (p.Arg2212=)
c.4436G=
c.6488G= (p.Arg2163=)
c.4061G= (p.Arg1354=)
c.6515G= (p.Arg2172=)
n.5185G=
n.2149G=
c.6518G= (p.Arg2173=)
c.6521G= (p.Arg2174=)
n.6929G=
c.6725G= (p.Arg2242=)
c.6608G= (p.Arg2203=)
c.6611G= (p.Arg2204=)
n.6714G=
n.6700G=
11g.77214683G>TCA6199142MYO7Ac.6635G>T (p.Arg2212Met)
c.4436G>T
c.6488G>T (p.Arg2163Met)
c.4061G>T (p.Arg1354Met)
c.6515G>T (p.Arg2172Met)
n.5185G>T
n.2149G>T
c.6518G>T (p.Arg2173Met)
c.6521G>T (p.Arg2174Met)
n.6929G>T
c.6725G>T (p.Arg2242Met)
c.6608G>T (p.Arg2203Met)
c.6611G>T (p.Arg2204Met)
n.6714G>T
n.6700G>T
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched