Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.77208689T>GCA2615255887MYO7Ac.5945-8T>G (n.5945-8T>G)
c.3772-34T>G
c.5798-8T>G (n.5798-8T>G)
c.3371-8T>G (n.3371-8T>G)
c.5831-8T>G (n.5831-8T>G)
n.3481-8T>G
n.859-8T>G
c.5828-8T>G (n.5828-8T>G)
c.5936-8T>G (n.5936-8T>G)
c.5939-8T>G (n.5939-8T>G)
c.5912-8T>G (n.5912-8T>G)
c.5849-8T>G (n.5849-8T>G)
c.5720-8T>G (n.5720-8T>G)
c.5708-8T>G (n.5708-8T>G)
c.5681-8T>G (n.5681-8T>G)
n.6265-8T>G
n.6265-34T>G
c.6035-8T>G (n.6035-8T>G)
c.6029-8T>G (n.6029-8T>G)
c.6026-8T>G (n.6026-8T>G)
c.5921-8T>G (n.5921-8T>G)
c.5918-8T>G (n.5918-8T>G)
n.6050-34T>G
n.5965-8T>G
n.6036-34T>G
 gnomAD v4
11g.77208690G>ACA2573147839MYO7Ac.5945-7G>A (n.5945-7G>A)
c.3772-33G>A
c.5798-7G>A (n.5798-7G>A)
c.3371-7G>A (n.3371-7G>A)
c.5831-7G>A (n.5831-7G>A)
n.3481-7G>A
n.859-7G>A
c.5828-7G>A (n.5828-7G>A)
c.5936-7G>A (n.5936-7G>A)
c.5939-7G>A (n.5939-7G>A)
c.5912-7G>A (n.5912-7G>A)
c.5849-7G>A (n.5849-7G>A)
c.5720-7G>A (n.5720-7G>A)
c.5708-7G>A (n.5708-7G>A)
c.5681-7G>A (n.5681-7G>A)
n.6265-7G>A
n.6265-33G>A
c.6035-7G>A (n.6035-7G>A)
c.6029-7G>A (n.6029-7G>A)
c.6026-7G>A (n.6026-7G>A)
c.5921-7G>A (n.5921-7G>A)
c.5918-7G>A (n.5918-7G>A)
n.6050-33G>A
n.5965-7G>A
n.6036-33G>A
 ClinVar dbSNP gnomAD v4
11g.77208690G>TCA2615255891MYO7Ac.5945-7G>T (n.5945-7G>T)
c.3772-33G>T
c.5798-7G>T (n.5798-7G>T)
c.3371-7G>T (n.3371-7G>T)
c.5831-7G>T (n.5831-7G>T)
n.3481-7G>T
n.859-7G>T
c.5828-7G>T (n.5828-7G>T)
c.5936-7G>T (n.5936-7G>T)
c.5939-7G>T (n.5939-7G>T)
c.5912-7G>T (n.5912-7G>T)
c.5849-7G>T (n.5849-7G>T)
c.5720-7G>T (n.5720-7G>T)
c.5708-7G>T (n.5708-7G>T)
c.5681-7G>T (n.5681-7G>T)
n.6265-7G>T
n.6265-33G>T
c.6035-7G>T (n.6035-7G>T)
c.6029-7G>T (n.6029-7G>T)
c.6026-7G>T (n.6026-7G>T)
c.5921-7G>T (n.5921-7G>T)
c.5918-7G>T (n.5918-7G>T)
n.6050-33G>T
n.5965-7G>T
n.6036-33G>T
 gnomAD v4
11g.77208691C>ACA2615255915MYO7Ac.5945-6C>A (n.5945-6C>A)
c.3772-32C>A
c.5798-6C>A (n.5798-6C>A)
c.3371-6C>A (n.3371-6C>A)
c.5831-6C>A (n.5831-6C>A)
n.3481-6C>A
n.859-6C>A
c.5828-6C>A (n.5828-6C>A)
c.5936-6C>A (n.5936-6C>A)
c.5939-6C>A (n.5939-6C>A)
c.5912-6C>A (n.5912-6C>A)
c.5849-6C>A (n.5849-6C>A)
c.5720-6C>A (n.5720-6C>A)
c.5708-6C>A (n.5708-6C>A)
c.5681-6C>A (n.5681-6C>A)
n.6265-6C>A
n.6265-32C>A
c.6035-6C>A (n.6035-6C>A)
c.6029-6C>A (n.6029-6C>A)
c.6026-6C>A (n.6026-6C>A)
c.5921-6C>A (n.5921-6C>A)
c.5918-6C>A (n.5918-6C>A)
n.6050-32C>A
n.5965-6C>A
n.6036-32C>A
 gnomAD v4
11g.77208691C=CA1984128560MYO7Ac.5945-6C= (n.5945-6C=)
c.3772-32C=
c.5798-6C= (n.5798-6C=)
c.3371-6C= (n.3371-6C=)
c.5831-6C= (n.5831-6C=)
n.3481-6C=
n.859-6C=
c.5828-6C= (n.5828-6C=)
c.5936-6C= (n.5936-6C=)
c.5939-6C= (n.5939-6C=)
c.5912-6C= (n.5912-6C=)
c.5849-6C= (n.5849-6C=)
c.5720-6C= (n.5720-6C=)
c.5708-6C= (n.5708-6C=)
c.5681-6C= (n.5681-6C=)
n.6265-6C=
n.6265-32C=
c.6035-6C= (n.6035-6C=)
c.6029-6C= (n.6029-6C=)
c.6026-6C= (n.6026-6C=)
c.5921-6C= (n.5921-6C=)
c.5918-6C= (n.5918-6C=)
n.6050-32C=
n.5965-6C=
n.6036-32C=
11g.77208691C>TCA224825398MYO7Ac.5945-6C>T (n.5945-6C>T)
c.3772-32C>T
c.5798-6C>T (n.5798-6C>T)
c.3371-6C>T (n.3371-6C>T)
c.5831-6C>T (n.5831-6C>T)
n.3481-6C>T
n.859-6C>T
c.5828-6C>T (n.5828-6C>T)
c.5936-6C>T (n.5936-6C>T)
c.5939-6C>T (n.5939-6C>T)
c.5912-6C>T (n.5912-6C>T)
c.5849-6C>T (n.5849-6C>T)
c.5720-6C>T (n.5720-6C>T)
c.5708-6C>T (n.5708-6C>T)
c.5681-6C>T (n.5681-6C>T)
n.6265-6C>T
n.6265-32C>T
c.6035-6C>T (n.6035-6C>T)
c.6029-6C>T (n.6029-6C>T)
c.6026-6C>T (n.6026-6C>T)
c.5921-6C>T (n.5921-6C>T)
c.5918-6C>T (n.5918-6C>T)
n.6050-32C>T
n.5965-6C>T
n.6036-32C>T
 dbSNP gnomAD v4
11g.77208692T>CCA2615255918MYO7Ac.5945-5T>C (n.5945-5T>C)
c.3772-31T>C
c.5798-5T>C (n.5798-5T>C)
c.3371-5T>C (n.3371-5T>C)
c.5831-5T>C (n.5831-5T>C)
n.3481-5T>C
n.859-5T>C
c.5828-5T>C (n.5828-5T>C)
c.5936-5T>C (n.5936-5T>C)
c.5939-5T>C (n.5939-5T>C)
c.5912-5T>C (n.5912-5T>C)
c.5849-5T>C (n.5849-5T>C)
c.5720-5T>C (n.5720-5T>C)
c.5708-5T>C (n.5708-5T>C)
c.5681-5T>C (n.5681-5T>C)
n.6265-5T>C
n.6265-31T>C
c.6035-5T>C (n.6035-5T>C)
c.6029-5T>C (n.6029-5T>C)
c.6026-5T>C (n.6026-5T>C)
c.5921-5T>C (n.5921-5T>C)
c.5918-5T>C (n.5918-5T>C)
n.6050-31T>C
n.5965-5T>C
n.6036-31T>C
 gnomAD v4
11g.77208693G>ACA6198889MYO7Ac.5945-4G>A (n.5945-4G>A)
c.3772-30G>A
c.5798-4G>A (n.5798-4G>A)
c.3371-4G>A (n.3371-4G>A)
c.5831-4G>A (n.5831-4G>A)
n.3481-4G>A
n.859-4G>A
c.5828-4G>A (n.5828-4G>A)
c.5936-4G>A (n.5936-4G>A)
c.5939-4G>A (n.5939-4G>A)
c.5912-4G>A (n.5912-4G>A)
c.5849-4G>A (n.5849-4G>A)
c.5720-4G>A (n.5720-4G>A)
c.5708-4G>A (n.5708-4G>A)
c.5681-4G>A (n.5681-4G>A)
n.6265-4G>A
n.6265-30G>A
c.6035-4G>A (n.6035-4G>A)
c.6029-4G>A (n.6029-4G>A)
c.6026-4G>A (n.6026-4G>A)
c.5921-4G>A (n.5921-4G>A)
c.5918-4G>A (n.5918-4G>A)
n.6050-30G>A
n.5965-4G>A
n.6036-30G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208693G=CA1984128561MYO7Ac.5945-4G= (n.5945-4G=)
c.3772-30G=
c.5798-4G= (n.5798-4G=)
c.3371-4G= (n.3371-4G=)
c.5831-4G= (n.5831-4G=)
n.3481-4G=
n.859-4G=
c.5828-4G= (n.5828-4G=)
c.5936-4G= (n.5936-4G=)
c.5939-4G= (n.5939-4G=)
c.5912-4G= (n.5912-4G=)
c.5849-4G= (n.5849-4G=)
c.5720-4G= (n.5720-4G=)
c.5708-4G= (n.5708-4G=)
c.5681-4G= (n.5681-4G=)
n.6265-4G=
n.6265-30G=
c.6035-4G= (n.6035-4G=)
c.6029-4G= (n.6029-4G=)
c.6026-4G= (n.6026-4G=)
c.5921-4G= (n.5921-4G=)
c.5918-4G= (n.5918-4G=)
n.6050-30G=
n.5965-4G=
n.6036-30G=
11g.77208693G>TCA2615255923MYO7Ac.5945-4G>T (n.5945-4G>T)
c.3772-30G>T
c.5798-4G>T (n.5798-4G>T)
c.3371-4G>T (n.3371-4G>T)
c.5831-4G>T (n.5831-4G>T)
n.3481-4G>T
n.859-4G>T
c.5828-4G>T (n.5828-4G>T)
c.5936-4G>T (n.5936-4G>T)
c.5939-4G>T (n.5939-4G>T)
c.5912-4G>T (n.5912-4G>T)
c.5849-4G>T (n.5849-4G>T)
c.5720-4G>T (n.5720-4G>T)
c.5708-4G>T (n.5708-4G>T)
c.5681-4G>T (n.5681-4G>T)
n.6265-4G>T
n.6265-30G>T
c.6035-4G>T (n.6035-4G>T)
c.6029-4G>T (n.6029-4G>T)
c.6026-4G>T (n.6026-4G>T)
c.5921-4G>T (n.5921-4G>T)
c.5918-4G>T (n.5918-4G>T)
n.6050-30G>T
n.5965-4G>T
n.6036-30G>T
 gnomAD v4
11g.77208694C>ACA2615255926MYO7Ac.5945-3C>A (n.5945-3C>A)
c.3772-29C>A
c.5798-3C>A (n.5798-3C>A)
c.3371-3C>A (n.3371-3C>A)
c.5831-3C>A (n.5831-3C>A)
n.3481-3C>A
n.859-3C>A
c.5828-3C>A (n.5828-3C>A)
c.5936-3C>A (n.5936-3C>A)
c.5939-3C>A (n.5939-3C>A)
c.5912-3C>A (n.5912-3C>A)
c.5849-3C>A (n.5849-3C>A)
c.5720-3C>A (n.5720-3C>A)
c.5708-3C>A (n.5708-3C>A)
c.5681-3C>A (n.5681-3C>A)
n.6265-3C>A
n.6265-29C>A
c.6035-3C>A (n.6035-3C>A)
c.6029-3C>A (n.6029-3C>A)
c.6026-3C>A (n.6026-3C>A)
c.5921-3C>A (n.5921-3C>A)
c.5918-3C>A (n.5918-3C>A)
n.6050-29C>A
n.5965-3C>A
n.6036-29C>A
 gnomAD v4
11g.77208694C=CA1984128562MYO7Ac.5945-3C= (n.5945-3C=)
c.3772-29C=
c.5798-3C= (n.5798-3C=)
c.3371-3C= (n.3371-3C=)
c.5831-3C= (n.5831-3C=)
n.3481-3C=
n.859-3C=
c.5828-3C= (n.5828-3C=)
c.5936-3C= (n.5936-3C=)
c.5939-3C= (n.5939-3C=)
c.5912-3C= (n.5912-3C=)
c.5849-3C= (n.5849-3C=)
c.5720-3C= (n.5720-3C=)
c.5708-3C= (n.5708-3C=)
c.5681-3C= (n.5681-3C=)
n.6265-3C=
n.6265-29C=
c.6035-3C= (n.6035-3C=)
c.6029-3C= (n.6029-3C=)
c.6026-3C= (n.6026-3C=)
c.5921-3C= (n.5921-3C=)
c.5918-3C= (n.5918-3C=)
n.6050-29C=
n.5965-3C=
n.6036-29C=
11g.77208694C>TCA224825408MYO7Ac.5945-3C>T (n.5945-3C>T)
c.3772-29C>T
c.5798-3C>T (n.5798-3C>T)
c.3371-3C>T (n.3371-3C>T)
c.5831-3C>T (n.5831-3C>T)
n.3481-3C>T
n.859-3C>T
c.5828-3C>T (n.5828-3C>T)
c.5936-3C>T (n.5936-3C>T)
c.5939-3C>T (n.5939-3C>T)
c.5912-3C>T (n.5912-3C>T)
c.5849-3C>T (n.5849-3C>T)
c.5720-3C>T (n.5720-3C>T)
c.5708-3C>T (n.5708-3C>T)
c.5681-3C>T (n.5681-3C>T)
n.6265-3C>T
n.6265-29C>T
c.6035-3C>T (n.6035-3C>T)
c.6029-3C>T (n.6029-3C>T)
c.6026-3C>T (n.6026-3C>T)
c.5921-3C>T (n.5921-3C>T)
c.5918-3C>T (n.5918-3C>T)
n.6050-29C>T
n.5965-3C>T
n.6036-29C>T
 dbSNP gnomAD v2 gnomAD v4
11g.77208695A>CCA381933979MYO7Ac.5945-2A>C (n.5945-2A>C)
c.3772-28A>C
c.5798-2A>C (n.5798-2A>C)
c.3371-2A>C (n.3371-2A>C)
c.5831-2A>C (n.5831-2A>C)
n.3481-2A>C
n.859-2A>C
c.5828-2A>C (n.5828-2A>C)
c.5936-2A>C (n.5936-2A>C)
c.5939-2A>C (n.5939-2A>C)
c.5912-2A>C (n.5912-2A>C)
c.5849-2A>C (n.5849-2A>C)
c.5720-2A>C (n.5720-2A>C)
c.5708-2A>C (n.5708-2A>C)
c.5681-2A>C (n.5681-2A>C)
n.6265-2A>C
n.6265-28A>C
c.6035-2A>C (n.6035-2A>C)
c.6029-2A>C (n.6029-2A>C)
c.6026-2A>C (n.6026-2A>C)
c.5921-2A>C (n.5921-2A>C)
c.5918-2A>C (n.5918-2A>C)
n.6050-28A>C
n.5965-2A>C
n.6036-28A>C
11g.77208695A>GCA381933976MYO7Ac.5945-2A>G (n.5945-2A>G)
c.3772-28A>G
c.5798-2A>G (n.5798-2A>G)
c.3371-2A>G (n.3371-2A>G)
c.5831-2A>G (n.5831-2A>G)
n.3481-2A>G
n.859-2A>G
c.5828-2A>G (n.5828-2A>G)
c.5936-2A>G (n.5936-2A>G)
c.5939-2A>G (n.5939-2A>G)
c.5912-2A>G (n.5912-2A>G)
c.5849-2A>G (n.5849-2A>G)
c.5720-2A>G (n.5720-2A>G)
c.5708-2A>G (n.5708-2A>G)
c.5681-2A>G (n.5681-2A>G)
n.6265-2A>G
n.6265-28A>G
c.6035-2A>G (n.6035-2A>G)
c.6029-2A>G (n.6029-2A>G)
c.6026-2A>G (n.6026-2A>G)
c.5921-2A>G (n.5921-2A>G)
c.5918-2A>G (n.5918-2A>G)
n.6050-28A>G
n.5965-2A>G
n.6036-28A>G
 gnomAD v4
11g.77208695A>TCA381933973MYO7Ac.5945-2A>T (n.5945-2A>T)
c.3772-28A>T
c.5798-2A>T (n.5798-2A>T)
c.3371-2A>T (n.3371-2A>T)
c.5831-2A>T (n.5831-2A>T)
n.3481-2A>T
n.859-2A>T
c.5828-2A>T (n.5828-2A>T)
c.5936-2A>T (n.5936-2A>T)
c.5939-2A>T (n.5939-2A>T)
c.5912-2A>T (n.5912-2A>T)
c.5849-2A>T (n.5849-2A>T)
c.5720-2A>T (n.5720-2A>T)
c.5708-2A>T (n.5708-2A>T)
c.5681-2A>T (n.5681-2A>T)
n.6265-2A>T
n.6265-28A>T
c.6035-2A>T (n.6035-2A>T)
c.6029-2A>T (n.6029-2A>T)
c.6026-2A>T (n.6026-2A>T)
c.5921-2A>T (n.5921-2A>T)
c.5918-2A>T (n.5918-2A>T)
n.6050-28A>T
n.5965-2A>T
n.6036-28A>T
11g.77208696G>ACA381933984MYO7Ac.5945-1G>A (n.5945-1G>A)
c.3772-27G>A
c.5798-1G>A (n.5798-1G>A)
c.3371-1G>A (n.3371-1G>A)
c.5831-1G>A (n.5831-1G>A)
n.3481-1G>A
n.859-1G>A
c.5828-1G>A (n.5828-1G>A)
c.5936-1G>A (n.5936-1G>A)
c.5939-1G>A (n.5939-1G>A)
c.5912-1G>A (n.5912-1G>A)
c.5849-1G>A (n.5849-1G>A)
c.5720-1G>A (n.5720-1G>A)
c.5708-1G>A (n.5708-1G>A)
c.5681-1G>A (n.5681-1G>A)
n.6265-1G>A
n.6265-27G>A
c.6035-1G>A (n.6035-1G>A)
c.6029-1G>A (n.6029-1G>A)
c.6026-1G>A (n.6026-1G>A)
c.5921-1G>A (n.5921-1G>A)
c.5918-1G>A (n.5918-1G>A)
n.6050-27G>A
n.5965-1G>A
n.6036-27G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77208696G>CCA381933991MYO7Ac.5945-1G>C (n.5945-1G>C)
c.3772-27G>C
c.5798-1G>C (n.5798-1G>C)
c.3371-1G>C (n.3371-1G>C)
c.5831-1G>C (n.5831-1G>C)
n.3481-1G>C
n.859-1G>C
c.5828-1G>C (n.5828-1G>C)
c.5936-1G>C (n.5936-1G>C)
c.5939-1G>C (n.5939-1G>C)
c.5912-1G>C (n.5912-1G>C)
c.5849-1G>C (n.5849-1G>C)
c.5720-1G>C (n.5720-1G>C)
c.5708-1G>C (n.5708-1G>C)
c.5681-1G>C (n.5681-1G>C)
n.6265-1G>C
n.6265-27G>C
c.6035-1G>C (n.6035-1G>C)
c.6029-1G>C (n.6029-1G>C)
c.6026-1G>C (n.6026-1G>C)
c.5921-1G>C (n.5921-1G>C)
c.5918-1G>C (n.5918-1G>C)
n.6050-27G>C
n.5965-1G>C
n.6036-27G>C
11g.77208696G=CA1984128563MYO7Ac.5945-1G= (n.5945-1G=)
c.3772-27G=
c.5798-1G= (n.5798-1G=)
c.3371-1G= (n.3371-1G=)
c.5831-1G= (n.5831-1G=)
n.3481-1G=
n.859-1G=
c.5828-1G= (n.5828-1G=)
c.5936-1G= (n.5936-1G=)
c.5939-1G= (n.5939-1G=)
c.5912-1G= (n.5912-1G=)
c.5849-1G= (n.5849-1G=)
c.5720-1G= (n.5720-1G=)
c.5708-1G= (n.5708-1G=)
c.5681-1G= (n.5681-1G=)
n.6265-1G=
n.6265-27G=
c.6035-1G= (n.6035-1G=)
c.6029-1G= (n.6029-1G=)
c.6026-1G= (n.6026-1G=)
c.5921-1G= (n.5921-1G=)
c.5918-1G= (n.5918-1G=)
n.6050-27G=
n.5965-1G=
n.6036-27G=
11g.77208696G>TCA381933987MYO7Ac.5945-1G>T (n.5945-1G>T)
c.3772-27G>T
c.5798-1G>T (n.5798-1G>T)
c.3371-1G>T (n.3371-1G>T)
c.5831-1G>T (n.5831-1G>T)
n.3481-1G>T
n.859-1G>T
c.5828-1G>T (n.5828-1G>T)
c.5936-1G>T (n.5936-1G>T)
c.5939-1G>T (n.5939-1G>T)
c.5912-1G>T (n.5912-1G>T)
c.5849-1G>T (n.5849-1G>T)
c.5720-1G>T (n.5720-1G>T)
c.5708-1G>T (n.5708-1G>T)
c.5681-1G>T (n.5681-1G>T)
n.6265-1G>T
n.6265-27G>T
c.6035-1G>T (n.6035-1G>T)
c.6029-1G>T (n.6029-1G>T)
c.6026-1G>T (n.6026-1G>T)
c.5921-1G>T (n.5921-1G>T)
c.5918-1G>T (n.5918-1G>T)
n.6050-27G>T
n.5965-1G>T
n.6036-27G>T
 gnomAD v4
11g.77208697G>ACA278700MYO7Ac.5945G>A (p.Gly1982Glu)
c.3772-26G>A
c.5798G>A (p.Gly1933Glu)
c.3371G>A (p.Gly1124Glu)
c.5831G>A (p.Gly1944Glu)
n.3481G>A
n.859G>A
c.5828G>A (p.Gly1943Glu)
c.5936G>A (p.Gly1979Glu)
c.5939G>A (p.Gly1980Glu)
c.5912G>A (p.Gly1971Glu)
c.5849G>A (p.Gly1950Glu)
c.5720G>A (p.Gly1907Glu)
c.5708G>A (p.Gly1903Glu)
c.5681G>A (p.Gly1894Glu)
n.6265G>A
n.6265-26G>A
c.6035G>A (p.Gly2012Glu)
c.6029G>A (p.Gly2010Glu)
c.6026G>A (p.Gly2009Glu)
c.5921G>A (p.Gly1974Glu)
c.5918G>A (p.Gly1973Glu)
n.6050-26G>A
n.5965G>A
n.6036-26G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77208697G>CCA381933995MYO7Ac.5945G>C (p.Gly1982Ala)
c.3772-26G>C
c.5798G>C (p.Gly1933Ala)
c.3371G>C (p.Gly1124Ala)
c.5831G>C (p.Gly1944Ala)
n.3481G>C
n.859G>C
c.5828G>C (p.Gly1943Ala)
c.5936G>C (p.Gly1979Ala)
c.5939G>C (p.Gly1980Ala)
c.5912G>C (p.Gly1971Ala)
c.5849G>C (p.Gly1950Ala)
c.5720G>C (p.Gly1907Ala)
c.5708G>C (p.Gly1903Ala)
c.5681G>C (p.Gly1894Ala)
n.6265G>C
n.6265-26G>C
c.6035G>C (p.Gly2012Ala)
c.6029G>C (p.Gly2010Ala)
c.6026G>C (p.Gly2009Ala)
c.5921G>C (p.Gly1974Ala)
c.5918G>C (p.Gly1973Ala)
n.6050-26G>C
n.5965G>C
n.6036-26G>C
11g.77208697G=CA1984128564MYO7Ac.5945G= (p.Gly1982=)
c.3772-26G=
c.5798G= (p.Gly1933=)
c.3371G= (p.Gly1124=)
c.5831G= (p.Gly1944=)
n.3481G=
n.859G=
c.5828G= (p.Gly1943=)
c.5936G= (p.Gly1979=)
c.5939G= (p.Gly1980=)
c.5912G= (p.Gly1971=)
c.5849G= (p.Gly1950=)
c.5720G= (p.Gly1907=)
c.5708G= (p.Gly1903=)
c.5681G= (p.Gly1894=)
n.6265G=
n.6265-26G=
c.6035G= (p.Gly2012=)
c.6029G= (p.Gly2010=)
c.6026G= (p.Gly2009=)
c.5921G= (p.Gly1974=)
c.5918G= (p.Gly1973=)
n.6050-26G=
n.5965G=
n.6036-26G=
11g.77208697G>TCA381933996MYO7Ac.5945G>T (p.Gly1982Val)
c.3772-26G>T
c.5798G>T (p.Gly1933Val)
c.3371G>T (p.Gly1124Val)
c.5831G>T (p.Gly1944Val)
n.3481G>T
n.859G>T
c.5828G>T (p.Gly1943Val)
c.5936G>T (p.Gly1979Val)
c.5939G>T (p.Gly1980Val)
c.5912G>T (p.Gly1971Val)
c.5849G>T (p.Gly1950Val)
c.5720G>T (p.Gly1907Val)
c.5708G>T (p.Gly1903Val)
c.5681G>T (p.Gly1894Val)
n.6265G>T
n.6265-26G>T
c.6035G>T (p.Gly2012Val)
c.6029G>T (p.Gly2010Val)
c.6026G>T (p.Gly2009Val)
c.5921G>T (p.Gly1974Val)
c.5918G>T (p.Gly1973Val)
n.6050-26G>T
n.5965G>T
n.6036-26G>T
 gnomAD v4
11g.77208698A>CCA475791654MYO7Ac.5946A>C (p.Gly1982=)
c.3772-25A>C
c.5799A>C (p.Gly1933=)
c.3372A>C (p.Gly1124=)
c.5832A>C (p.Gly1944=)
n.3482A>C
n.860A>C
c.5829A>C (p.Gly1943=)
c.5937A>C (p.Gly1979=)
c.5940A>C (p.Gly1980=)
c.5913A>C (p.Gly1971=)
c.5850A>C (p.Gly1950=)
c.5721A>C (p.Gly1907=)
c.5709A>C (p.Gly1903=)
c.5682A>C (p.Gly1894=)
n.6266A>C
n.6265-25A>C
c.6036A>C (p.Gly2012=)
c.6030A>C (p.Gly2010=)
c.6027A>C (p.Gly2009=)
c.5922A>C (p.Gly1974=)
c.5919A>C (p.Gly1973=)
n.6050-25A>C
n.5966A>C
n.6036-25A>C
11g.77208698A>GCA475791655MYO7Ac.5946A>G (p.Gly1982=)
c.3772-25A>G
c.5799A>G (p.Gly1933=)
c.3372A>G (p.Gly1124=)
c.5832A>G (p.Gly1944=)
n.3482A>G
n.860A>G
c.5829A>G (p.Gly1943=)
c.5937A>G (p.Gly1979=)
c.5940A>G (p.Gly1980=)
c.5913A>G (p.Gly1971=)
c.5850A>G (p.Gly1950=)
c.5721A>G (p.Gly1907=)
c.5709A>G (p.Gly1903=)
c.5682A>G (p.Gly1894=)
n.6266A>G
n.6265-25A>G
c.6036A>G (p.Gly2012=)
c.6030A>G (p.Gly2010=)
c.6027A>G (p.Gly2009=)
c.5922A>G (p.Gly1974=)
c.5919A>G (p.Gly1973=)
n.6050-25A>G
n.5966A>G
n.6036-25A>G
 ClinVar dbSNP gnomAD v4
11g.77208698A>TCA475791656MYO7Ac.5946A>T (p.Gly1982=)
c.3772-25A>T
c.5799A>T (p.Gly1933=)
c.3372A>T (p.Gly1124=)
c.5832A>T (p.Gly1944=)
n.3482A>T
n.860A>T
c.5829A>T (p.Gly1943=)
c.5937A>T (p.Gly1979=)
c.5940A>T (p.Gly1980=)
c.5913A>T (p.Gly1971=)
c.5850A>T (p.Gly1950=)
c.5721A>T (p.Gly1907=)
c.5709A>T (p.Gly1903=)
c.5682A>T (p.Gly1894=)
n.6266A>T
n.6265-25A>T
c.6036A>T (p.Gly2012=)
c.6030A>T (p.Gly2010=)
c.6027A>T (p.Gly2009=)
c.5922A>T (p.Gly1974=)
c.5919A>T (p.Gly1973=)
n.6050-25A>T
n.5966A>T
n.6036-25A>T
11g.77208699delCA2615255977MYO7Ac.5947del (p.Ile1983LeufsTer12)
c.3772-24del
c.5800del (p.Ile1934LeufsTer12)
c.3373del (p.Ile1125LeufsTer12)
c.5833del (p.Ile1945LeufsTer12)
n.3483del
n.861del
c.5830del (p.Ile1944LeufsTer12)
c.5938del (p.Ile1980LeufsTer12)
c.5941del (p.Ile1981LeufsTer12)
c.5914del (p.Ile1972LeufsTer12)
c.5851del (p.Ile1951LeufsTer12)
c.5722del (p.Ile1908LeufsTer12)
c.5710del (p.Ile1904LeufsTer12)
c.5683del (p.Ile1895LeufsTer12)
n.6267del
n.6265-24del
c.6037del (p.Ile2013LeufsTer12)
c.6031del (p.Ile2011LeufsTer12)
c.6028del (p.Ile2010LeufsTer12)
c.5923del (p.Ile1975LeufsTer12)
c.5920del (p.Ile1974LeufsTer12)
n.6050-24del
n.5967del
n.6036-24del
 gnomAD v4
11g.77208699A>CCA381933999MYO7Ac.5947A>C (p.Ile1983Leu)
c.3772-24A>C
c.5800A>C (p.Ile1934Leu)
c.3373A>C (p.Ile1125Leu)
c.5833A>C (p.Ile1945Leu)
n.3483A>C
n.861A>C
c.5830A>C (p.Ile1944Leu)
c.5938A>C (p.Ile1980Leu)
c.5941A>C (p.Ile1981Leu)
c.5914A>C (p.Ile1972Leu)
c.5851A>C (p.Ile1951Leu)
c.5722A>C (p.Ile1908Leu)
c.5710A>C (p.Ile1904Leu)
c.5683A>C (p.Ile1895Leu)
n.6267A>C
n.6265-24A>C
c.6037A>C (p.Ile2013Leu)
c.6031A>C (p.Ile2011Leu)
c.6028A>C (p.Ile2010Leu)
c.5923A>C (p.Ile1975Leu)
c.5920A>C (p.Ile1974Leu)
n.6050-24A>C
n.5967A>C
n.6036-24A>C
11g.77208699A>GCA381934001MYO7Ac.5947A>G (p.Ile1983Val)
c.3772-24A>G
c.5800A>G (p.Ile1934Val)
c.3373A>G (p.Ile1125Val)
c.5833A>G (p.Ile1945Val)
n.3483A>G
n.861A>G
c.5830A>G (p.Ile1944Val)
c.5938A>G (p.Ile1980Val)
c.5941A>G (p.Ile1981Val)
c.5914A>G (p.Ile1972Val)
c.5851A>G (p.Ile1951Val)
c.5722A>G (p.Ile1908Val)
c.5710A>G (p.Ile1904Val)
c.5683A>G (p.Ile1895Val)
n.6267A>G
n.6265-24A>G
c.6037A>G (p.Ile2013Val)
c.6031A>G (p.Ile2011Val)
c.6028A>G (p.Ile2010Val)
c.5923A>G (p.Ile1975Val)
c.5920A>G (p.Ile1974Val)
n.6050-24A>G
n.5967A>G
n.6036-24A>G
 gnomAD v4
11g.77208699A>TCA381934003MYO7Ac.5947A>T (p.Ile1983Phe)
c.3772-24A>T
c.5800A>T (p.Ile1934Phe)
c.3373A>T (p.Ile1125Phe)
c.5833A>T (p.Ile1945Phe)
n.3483A>T
n.861A>T
c.5830A>T (p.Ile1944Phe)
c.5938A>T (p.Ile1980Phe)
c.5941A>T (p.Ile1981Phe)
c.5914A>T (p.Ile1972Phe)
c.5851A>T (p.Ile1951Phe)
c.5722A>T (p.Ile1908Phe)
c.5710A>T (p.Ile1904Phe)
c.5683A>T (p.Ile1895Phe)
n.6267A>T
n.6265-24A>T
c.6037A>T (p.Ile2013Phe)
c.6031A>T (p.Ile2011Phe)
c.6028A>T (p.Ile2010Phe)
c.5923A>T (p.Ile1975Phe)
c.5920A>T (p.Ile1974Phe)
n.6050-24A>T
n.5967A>T
n.6036-24A>T
11g.77208700T>ACA381934006MYO7Ac.5948T>A (p.Ile1983Asn)
c.3772-23T>A
c.5801T>A (p.Ile1934Asn)
c.3374T>A (p.Ile1125Asn)
c.5834T>A (p.Ile1945Asn)
n.3484T>A
n.862T>A
c.5831T>A (p.Ile1944Asn)
c.5939T>A (p.Ile1980Asn)
c.5942T>A (p.Ile1981Asn)
c.5915T>A (p.Ile1972Asn)
c.5852T>A (p.Ile1951Asn)
c.5723T>A (p.Ile1908Asn)
c.5711T>A (p.Ile1904Asn)
c.5684T>A (p.Ile1895Asn)
n.6268T>A
n.6265-23T>A
c.6038T>A (p.Ile2013Asn)
c.6032T>A (p.Ile2011Asn)
c.6029T>A (p.Ile2010Asn)
c.5924T>A (p.Ile1975Asn)
c.5921T>A (p.Ile1974Asn)
n.6050-23T>A
n.5968T>A
n.6036-23T>A
11g.77208700T>CCA381934008MYO7Ac.5948T>C (p.Ile1983Thr)
c.3772-23T>C
c.5801T>C (p.Ile1934Thr)
c.3374T>C (p.Ile1125Thr)
c.5834T>C (p.Ile1945Thr)
n.3484T>C
n.862T>C
c.5831T>C (p.Ile1944Thr)
c.5939T>C (p.Ile1980Thr)
c.5942T>C (p.Ile1981Thr)
c.5915T>C (p.Ile1972Thr)
c.5852T>C (p.Ile1951Thr)
c.5723T>C (p.Ile1908Thr)
c.5711T>C (p.Ile1904Thr)
c.5684T>C (p.Ile1895Thr)
n.6268T>C
n.6265-23T>C
c.6038T>C (p.Ile2013Thr)
c.6032T>C (p.Ile2011Thr)
c.6029T>C (p.Ile2010Thr)
c.5924T>C (p.Ile1975Thr)
c.5921T>C (p.Ile1974Thr)
n.6050-23T>C
n.5968T>C
n.6036-23T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77208700T>GCA381934010MYO7Ac.5948T>G (p.Ile1983Ser)
c.3772-23T>G
c.5801T>G (p.Ile1934Ser)
c.3374T>G (p.Ile1125Ser)
c.5834T>G (p.Ile1945Ser)
n.3484T>G
n.862T>G
c.5831T>G (p.Ile1944Ser)
c.5939T>G (p.Ile1980Ser)
c.5942T>G (p.Ile1981Ser)
c.5915T>G (p.Ile1972Ser)
c.5852T>G (p.Ile1951Ser)
c.5723T>G (p.Ile1908Ser)
c.5711T>G (p.Ile1904Ser)
c.5684T>G (p.Ile1895Ser)
n.6268T>G
n.6265-23T>G
c.6038T>G (p.Ile2013Ser)
c.6032T>G (p.Ile2011Ser)
c.6029T>G (p.Ile2010Ser)
c.5924T>G (p.Ile1975Ser)
c.5921T>G (p.Ile1974Ser)
n.6050-23T>G
n.5968T>G
n.6036-23T>G
11g.77208700T=CA1984128565MYO7Ac.5948T= (p.Ile1983=)
c.3772-23T=
c.5801T= (p.Ile1934=)
c.3374T= (p.Ile1125=)
c.5834T= (p.Ile1945=)
n.3484T=
n.862T=
c.5831T= (p.Ile1944=)
c.5939T= (p.Ile1980=)
c.5942T= (p.Ile1981=)
c.5915T= (p.Ile1972=)
c.5852T= (p.Ile1951=)
c.5723T= (p.Ile1908=)
c.5711T= (p.Ile1904=)
c.5684T= (p.Ile1895=)
n.6268T=
n.6265-23T=
c.6038T= (p.Ile2013=)
c.6032T= (p.Ile2011=)
c.6029T= (p.Ile2010=)
c.5924T= (p.Ile1975=)
c.5921T= (p.Ile1974=)
n.6050-23T=
n.5968T=
n.6036-23T=
11g.77208701T>ACA475791657MYO7Ac.5949T>A (p.Ile1983=)
c.3772-22T>A
c.5802T>A (p.Ile1934=)
c.3375T>A (p.Ile1125=)
c.5835T>A (p.Ile1945=)
n.3485T>A
n.863T>A
c.5832T>A (p.Ile1944=)
c.5940T>A (p.Ile1980=)
c.5943T>A (p.Ile1981=)
c.5916T>A (p.Ile1972=)
c.5853T>A (p.Ile1951=)
c.5724T>A (p.Ile1908=)
c.5712T>A (p.Ile1904=)
c.5685T>A (p.Ile1895=)
n.6269T>A
n.6265-22T>A
c.6039T>A (p.Ile2013=)
c.6033T>A (p.Ile2011=)
c.6030T>A (p.Ile2010=)
c.5925T>A (p.Ile1975=)
c.5922T>A (p.Ile1974=)
n.6050-22T>A
n.5969T>A
n.6036-22T>A
11g.77208701T>CCA475791658MYO7Ac.5949T>C (p.Ile1983=)
c.3772-22T>C
c.5802T>C (p.Ile1934=)
c.3375T>C (p.Ile1125=)
c.5835T>C (p.Ile1945=)
n.3485T>C
n.863T>C
c.5832T>C (p.Ile1944=)
c.5940T>C (p.Ile1980=)
c.5943T>C (p.Ile1981=)
c.5916T>C (p.Ile1972=)
c.5853T>C (p.Ile1951=)
c.5724T>C (p.Ile1908=)
c.5712T>C (p.Ile1904=)
c.5685T>C (p.Ile1895=)
n.6269T>C
n.6265-22T>C
c.6039T>C (p.Ile2013=)
c.6033T>C (p.Ile2011=)
c.6030T>C (p.Ile2010=)
c.5925T>C (p.Ile1975=)
c.5922T>C (p.Ile1974=)
n.6050-22T>C
n.5969T>C
n.6036-22T>C
 gnomAD v4
11g.77208701T>GCA381934013MYO7Ac.5949T>G (p.Ile1983Met)
c.3772-22T>G
c.5802T>G (p.Ile1934Met)
c.3375T>G (p.Ile1125Met)
c.5835T>G (p.Ile1945Met)
n.3485T>G
n.863T>G
c.5832T>G (p.Ile1944Met)
c.5940T>G (p.Ile1980Met)
c.5943T>G (p.Ile1981Met)
c.5916T>G (p.Ile1972Met)
c.5853T>G (p.Ile1951Met)
c.5724T>G (p.Ile1908Met)
c.5712T>G (p.Ile1904Met)
c.5685T>G (p.Ile1895Met)
n.6269T>G
n.6265-22T>G
c.6039T>G (p.Ile2013Met)
c.6033T>G (p.Ile2011Met)
c.6030T>G (p.Ile2010Met)
c.5925T>G (p.Ile1975Met)
c.5922T>G (p.Ile1974Met)
n.6050-22T>G
n.5969T>G
n.6036-22T>G
11g.77208702delCA2574931873MYO7Ac.5950del (p.Val1984CysfsTer11)
c.3772-21del
c.5803del (p.Val1935CysfsTer11)
c.3376del (p.Val1126CysfsTer11)
c.5836del (p.Val1946CysfsTer11)
n.3486del
n.864del
c.5833del (p.Val1945CysfsTer11)
c.5941del (p.Val1981CysfsTer11)
c.5944del (p.Val1982CysfsTer11)
c.5917del (p.Val1973CysfsTer11)
c.5854del (p.Val1952CysfsTer11)
c.5725del (p.Val1909CysfsTer11)
c.5713del (p.Val1905CysfsTer11)
c.5686del (p.Val1896CysfsTer11)
n.6270del
n.6265-21del
c.6040del (p.Val2014CysfsTer11)
c.6034del (p.Val2012CysfsTer11)
c.6031del (p.Val2011CysfsTer11)
c.5926del (p.Val1976CysfsTer11)
c.5923del (p.Val1975CysfsTer11)
n.6050-21del
n.5970del
n.6036-21del
11g.77208702G>ACA6198891MYO7Ac.5950G>A (p.Val1984Met)
c.3772-21G>A
c.5803G>A (p.Val1935Met)
c.3376G>A (p.Val1126Met)
c.5836G>A (p.Val1946Met)
n.3486G>A
n.864G>A
c.5833G>A (p.Val1945Met)
c.5941G>A (p.Val1981Met)
c.5944G>A (p.Val1982Met)
c.5917G>A (p.Val1973Met)
c.5854G>A (p.Val1952Met)
c.5725G>A (p.Val1909Met)
c.5713G>A (p.Val1905Met)
c.5686G>A (p.Val1896Met)
n.6270G>A
n.6265-21G>A
c.6040G>A (p.Val2014Met)
c.6034G>A (p.Val2012Met)
c.6031G>A (p.Val2011Met)
c.5926G>A (p.Val1976Met)
c.5923G>A (p.Val1975Met)
n.6050-21G>A
n.5970G>A
n.6036-21G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77208702G>CCA381934019MYO7Ac.5950G>C (p.Val1984Leu)
c.3772-21G>C
c.5803G>C (p.Val1935Leu)
c.3376G>C (p.Val1126Leu)
c.5836G>C (p.Val1946Leu)
n.3486G>C
n.864G>C
c.5833G>C (p.Val1945Leu)
c.5941G>C (p.Val1981Leu)
c.5944G>C (p.Val1982Leu)
c.5917G>C (p.Val1973Leu)
c.5854G>C (p.Val1952Leu)
c.5725G>C (p.Val1909Leu)
c.5713G>C (p.Val1905Leu)
c.5686G>C (p.Val1896Leu)
n.6270G>C
n.6265-21G>C
c.6040G>C (p.Val2014Leu)
c.6034G>C (p.Val2012Leu)
c.6031G>C (p.Val2011Leu)
c.5926G>C (p.Val1976Leu)
c.5923G>C (p.Val1975Leu)
n.6050-21G>C
n.5970G>C
n.6036-21G>C
 gnomAD v4
11g.77208702G=CA1984128566MYO7Ac.5950G= (p.Val1984=)
c.3772-21G=
c.5803G= (p.Val1935=)
c.3376G= (p.Val1126=)
c.5836G= (p.Val1946=)
n.3486G=
n.864G=
c.5833G= (p.Val1945=)
c.5941G= (p.Val1981=)
c.5944G= (p.Val1982=)
c.5917G= (p.Val1973=)
c.5854G= (p.Val1952=)
c.5725G= (p.Val1909=)
c.5713G= (p.Val1905=)
c.5686G= (p.Val1896=)
n.6270G=
n.6265-21G=
c.6040G= (p.Val2014=)
c.6034G= (p.Val2012=)
c.6031G= (p.Val2011=)
c.5926G= (p.Val1976=)
c.5923G= (p.Val1975=)
n.6050-21G=
n.5970G=
n.6036-21G=
11g.77208702G>TCA6198890MYO7Ac.5950G>T (p.Val1984Leu)
c.3772-21G>T
c.5803G>T (p.Val1935Leu)
c.3376G>T (p.Val1126Leu)
c.5836G>T (p.Val1946Leu)
n.3486G>T
n.864G>T
c.5833G>T (p.Val1945Leu)
c.5941G>T (p.Val1981Leu)
c.5944G>T (p.Val1982Leu)
c.5917G>T (p.Val1973Leu)
c.5854G>T (p.Val1952Leu)
c.5725G>T (p.Val1909Leu)
c.5713G>T (p.Val1905Leu)
c.5686G>T (p.Val1896Leu)
n.6270G>T
n.6265-21G>T
c.6040G>T (p.Val2014Leu)
c.6034G>T (p.Val2012Leu)
c.6031G>T (p.Val2011Leu)
c.5926G>T (p.Val1976Leu)
c.5923G>T (p.Val1975Leu)
n.6050-21G>T
n.5970G>T
n.6036-21G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208703T>ACA381934030MYO7Ac.5951T>A (p.Val1984Glu)
c.3772-20T>A
c.5804T>A (p.Val1935Glu)
c.3377T>A (p.Val1126Glu)
c.5837T>A (p.Val1946Glu)
n.3487T>A
n.865T>A
c.5834T>A (p.Val1945Glu)
c.5942T>A (p.Val1981Glu)
c.5945T>A (p.Val1982Glu)
c.5918T>A (p.Val1973Glu)
c.5855T>A (p.Val1952Glu)
c.5726T>A (p.Val1909Glu)
c.5714T>A (p.Val1905Glu)
c.5687T>A (p.Val1896Glu)
n.6271T>A
n.6265-20T>A
c.6041T>A (p.Val2014Glu)
c.6035T>A (p.Val2012Glu)
c.6032T>A (p.Val2011Glu)
c.5927T>A (p.Val1976Glu)
c.5924T>A (p.Val1975Glu)
n.6050-20T>A
n.5971T>A
n.6036-20T>A
11g.77208703T>CCA381934024MYO7Ac.5951T>C (p.Val1984Ala)
c.3772-20T>C
c.5804T>C (p.Val1935Ala)
c.3377T>C (p.Val1126Ala)
c.5837T>C (p.Val1946Ala)
n.3487T>C
n.865T>C
c.5834T>C (p.Val1945Ala)
c.5942T>C (p.Val1981Ala)
c.5945T>C (p.Val1982Ala)
c.5918T>C (p.Val1973Ala)
c.5855T>C (p.Val1952Ala)
c.5726T>C (p.Val1909Ala)
c.5714T>C (p.Val1905Ala)
c.5687T>C (p.Val1896Ala)
n.6271T>C
n.6265-20T>C
c.6041T>C (p.Val2014Ala)
c.6035T>C (p.Val2012Ala)
c.6032T>C (p.Val2011Ala)
c.5927T>C (p.Val1976Ala)
c.5924T>C (p.Val1975Ala)
n.6050-20T>C
n.5971T>C
n.6036-20T>C
 gnomAD v4
11g.77208703T>GCA381934027MYO7Ac.5951T>G (p.Val1984Gly)
c.3772-20T>G
c.5804T>G (p.Val1935Gly)
c.3377T>G (p.Val1126Gly)
c.5837T>G (p.Val1946Gly)
n.3487T>G
n.865T>G
c.5834T>G (p.Val1945Gly)
c.5942T>G (p.Val1981Gly)
c.5945T>G (p.Val1982Gly)
c.5918T>G (p.Val1973Gly)
c.5855T>G (p.Val1952Gly)
c.5726T>G (p.Val1909Gly)
c.5714T>G (p.Val1905Gly)
c.5687T>G (p.Val1896Gly)
n.6271T>G
n.6265-20T>G
c.6041T>G (p.Val2014Gly)
c.6035T>G (p.Val2012Gly)
c.6032T>G (p.Val2011Gly)
c.5927T>G (p.Val1976Gly)
c.5924T>G (p.Val1975Gly)
n.6050-20T>G
n.5971T>G
n.6036-20T>G
 ClinVar gnomAD v4
11g.77208704G>ACA475791661MYO7Ac.5952G>A (p.Val1984=)
c.3772-19G>A
c.5805G>A (p.Val1935=)
c.3378G>A (p.Val1126=)
c.5838G>A (p.Val1946=)
n.3488G>A
n.866G>A
c.5835G>A (p.Val1945=)
c.5943G>A (p.Val1981=)
c.5946G>A (p.Val1982=)
c.5919G>A (p.Val1973=)
c.5856G>A (p.Val1952=)
c.5727G>A (p.Val1909=)
c.5715G>A (p.Val1905=)
c.5688G>A (p.Val1896=)
n.6272G>A
n.6265-19G>A
c.6042G>A (p.Val2014=)
c.6036G>A (p.Val2012=)
c.6033G>A (p.Val2011=)
c.5928G>A (p.Val1976=)
c.5925G>A (p.Val1975=)
n.6050-19G>A
n.5972G>A
n.6036-19G>A
 gnomAD v4
11g.77208704G>CCA475791660MYO7Ac.5952G>C (p.Val1984=)
c.3772-19G>C
c.5805G>C (p.Val1935=)
c.3378G>C (p.Val1126=)
c.5838G>C (p.Val1946=)
n.3488G>C
n.866G>C
c.5835G>C (p.Val1945=)
c.5943G>C (p.Val1981=)
c.5946G>C (p.Val1982=)
c.5919G>C (p.Val1973=)
c.5856G>C (p.Val1952=)
c.5727G>C (p.Val1909=)
c.5715G>C (p.Val1905=)
c.5688G>C (p.Val1896=)
n.6272G>C
n.6265-19G>C
c.6042G>C (p.Val2014=)
c.6036G>C (p.Val2012=)
c.6033G>C (p.Val2011=)
c.5928G>C (p.Val1976=)
c.5925G>C (p.Val1975=)
n.6050-19G>C
n.5972G>C
n.6036-19G>C
11g.77208704G>TCA475791659MYO7Ac.5952G>T (p.Val1984=)
c.3772-19G>T
c.5805G>T (p.Val1935=)
c.3378G>T (p.Val1126=)
c.5838G>T (p.Val1946=)
n.3488G>T
n.866G>T
c.5835G>T (p.Val1945=)
c.5943G>T (p.Val1981=)
c.5946G>T (p.Val1982=)
c.5919G>T (p.Val1973=)
c.5856G>T (p.Val1952=)
c.5727G>T (p.Val1909=)
c.5715G>T (p.Val1905=)
c.5688G>T (p.Val1896=)
n.6272G>T
n.6265-19G>T
c.6042G>T (p.Val2014=)
c.6036G>T (p.Val2012=)
c.6033G>T (p.Val2011=)
c.5928G>T (p.Val1976=)
c.5925G>T (p.Val1975=)
n.6050-19G>T
n.5972G>T
n.6036-19G>T
 gnomAD v4
11g.77208705C>ACA381934033MYO7Ac.5953C>A (p.Pro1985Thr)
c.3772-18C>A
c.5806C>A (p.Pro1936Thr)
c.3379C>A (p.Pro1127Thr)
c.5839C>A (p.Pro1947Thr)
n.3489C>A
n.867C>A
c.5836C>A (p.Pro1946Thr)
c.5944C>A (p.Pro1982Thr)
c.5947C>A (p.Pro1983Thr)
c.5920C>A (p.Pro1974Thr)
c.5857C>A (p.Pro1953Thr)
c.5728C>A (p.Pro1910Thr)
c.5716C>A (p.Pro1906Thr)
c.5689C>A (p.Pro1897Thr)
n.6273C>A
n.6265-18C>A
c.6043C>A (p.Pro2015Thr)
c.6037C>A (p.Pro2013Thr)
c.6034C>A (p.Pro2012Thr)
c.5929C>A (p.Pro1977Thr)
c.5926C>A (p.Pro1976Thr)
n.6050-18C>A
n.5973C>A
n.6036-18C>A
 dbSNP gnomAD v4
11g.77208705C=CA1984128567MYO7Ac.5953C= (p.Pro1985=)
c.3772-18C=
c.5806C= (p.Pro1936=)
c.3379C= (p.Pro1127=)
c.5839C= (p.Pro1947=)
n.3489C=
n.867C=
c.5836C= (p.Pro1946=)
c.5944C= (p.Pro1982=)
c.5947C= (p.Pro1983=)
c.5920C= (p.Pro1974=)
c.5857C= (p.Pro1953=)
c.5728C= (p.Pro1910=)
c.5716C= (p.Pro1906=)
c.5689C= (p.Pro1897=)
n.6273C=
n.6265-18C=
c.6043C= (p.Pro2015=)
c.6037C= (p.Pro2013=)
c.6034C= (p.Pro2012=)
c.5929C= (p.Pro1977=)
c.5926C= (p.Pro1976=)
n.6050-18C=
n.5973C=
n.6036-18C=
11g.77208705C>GCA381934034MYO7Ac.5953C>G (p.Pro1985Ala)
c.3772-18C>G
c.5806C>G (p.Pro1936Ala)
c.3379C>G (p.Pro1127Ala)
c.5839C>G (p.Pro1947Ala)
n.3489C>G
n.867C>G
c.5836C>G (p.Pro1946Ala)
c.5944C>G (p.Pro1982Ala)
c.5947C>G (p.Pro1983Ala)
c.5920C>G (p.Pro1974Ala)
c.5857C>G (p.Pro1953Ala)
c.5728C>G (p.Pro1910Ala)
c.5716C>G (p.Pro1906Ala)
c.5689C>G (p.Pro1897Ala)
n.6273C>G
n.6265-18C>G
c.6043C>G (p.Pro2015Ala)
c.6037C>G (p.Pro2013Ala)
c.6034C>G (p.Pro2012Ala)
c.5929C>G (p.Pro1977Ala)
c.5926C>G (p.Pro1976Ala)
n.6050-18C>G
n.5973C>G
n.6036-18C>G
11g.77208705C>TCA381934035MYO7Ac.5953C>T (p.Pro1985Ser)
c.3772-18C>T
c.5806C>T (p.Pro1936Ser)
c.3379C>T (p.Pro1127Ser)
c.5839C>T (p.Pro1947Ser)
n.3489C>T
n.867C>T
c.5836C>T (p.Pro1946Ser)
c.5944C>T (p.Pro1982Ser)
c.5947C>T (p.Pro1983Ser)
c.5920C>T (p.Pro1974Ser)
c.5857C>T (p.Pro1953Ser)
c.5728C>T (p.Pro1910Ser)
c.5716C>T (p.Pro1906Ser)
c.5689C>T (p.Pro1897Ser)
n.6273C>T
n.6265-18C>T
c.6043C>T (p.Pro2015Ser)
c.6037C>T (p.Pro2013Ser)
c.6034C>T (p.Pro2012Ser)
c.5929C>T (p.Pro1977Ser)
c.5926C>T (p.Pro1976Ser)
n.6050-18C>T
n.5973C>T
n.6036-18C>T
 gnomAD v4
11g.77208707dupCA912973142MYO7Ac.5955dup (p.Ser1986LeufsTer?)
c.3772-16dup
c.5808dup (p.Ser1937LeufsTer?)
c.3381dup (p.Ser1128LeufsTer?)
c.5841dup (p.Ser1948LeufsTer?)
n.3491dup
n.869dup
c.5838dup (p.Ser1947LeufsTer?)
c.5946dup (p.Ser1983LeufsTer?)
c.5949dup (p.Ser1984LeufsTer?)
c.5922dup (p.Ser1975LeufsTer?)
c.5859dup (p.Ser1954LeufsTer?)
c.5730dup (p.Ser1911LeufsTer?)
c.5718dup (p.Ser1907LeufsTer?)
c.5691dup (p.Ser1898LeufsTer?)
n.6275dup
n.6265-16dup
c.6045dup (p.Ser2016LeufsTer?)
c.6039dup (p.Ser2014LeufsTer?)
c.6036dup (p.Ser2013LeufsTer?)
c.5931dup (p.Ser1978LeufsTer?)
c.5928dup (p.Ser1977LeufsTer?)
n.6050-16dup
n.5975dup
n.6036-16dup
11g.77208707delCA2574931874MYO7Ac.5955del (p.Ser1986HisfsTer9)
c.3772-16del
c.5808del (p.Ser1937HisfsTer9)
c.3381del (p.Ser1128HisfsTer9)
c.5841del (p.Ser1948HisfsTer9)
n.3491del
n.869del
c.5838del (p.Ser1947HisfsTer9)
c.5946del (p.Ser1983HisfsTer9)
c.5949del (p.Ser1984HisfsTer9)
c.5922del (p.Ser1975HisfsTer9)
c.5859del (p.Ser1954HisfsTer9)
c.5730del (p.Ser1911HisfsTer9)
c.5718del (p.Ser1907HisfsTer9)
c.5691del (p.Ser1898HisfsTer9)
n.6275del
n.6265-16del
c.6045del (p.Ser2016HisfsTer9)
c.6039del (p.Ser2014HisfsTer9)
c.6036del (p.Ser2013HisfsTer9)
c.5931del (p.Ser1978HisfsTer9)
c.5928del (p.Ser1977HisfsTer9)
n.6050-16del
n.5975del
n.6036-16del
11g.77208706C>ACA381934037MYO7Ac.5954C>A (p.Pro1985His)
c.3772-17C>A
c.5807C>A (p.Pro1936His)
c.3380C>A (p.Pro1127His)
c.5840C>A (p.Pro1947His)
n.3490C>A
n.868C>A
c.5837C>A (p.Pro1946His)
c.5945C>A (p.Pro1982His)
c.5948C>A (p.Pro1983His)
c.5921C>A (p.Pro1974His)
c.5858C>A (p.Pro1953His)
c.5729C>A (p.Pro1910His)
c.5717C>A (p.Pro1906His)
c.5690C>A (p.Pro1897His)
n.6274C>A
n.6265-17C>A
c.6044C>A (p.Pro2015His)
c.6038C>A (p.Pro2013His)
c.6035C>A (p.Pro2012His)
c.5930C>A (p.Pro1977His)
c.5927C>A (p.Pro1976His)
n.6050-17C>A
n.5974C>A
n.6036-17C>A
 gnomAD v4
11g.77208706C=CA1984128568MYO7Ac.5954C= (p.Pro1985=)
c.3772-17C=
c.5807C= (p.Pro1936=)
c.3380C= (p.Pro1127=)
c.5840C= (p.Pro1947=)
n.3490C=
n.868C=
c.5837C= (p.Pro1946=)
c.5945C= (p.Pro1982=)
c.5948C= (p.Pro1983=)
c.5921C= (p.Pro1974=)
c.5858C= (p.Pro1953=)
c.5729C= (p.Pro1910=)
c.5717C= (p.Pro1906=)
c.5690C= (p.Pro1897=)
n.6274C=
n.6265-17C=
c.6044C= (p.Pro2015=)
c.6038C= (p.Pro2013=)
c.6035C= (p.Pro2012=)
c.5930C= (p.Pro1977=)
c.5927C= (p.Pro1976=)
n.6050-17C=
n.5974C=
n.6036-17C=
11g.77208706C>GCA381934040MYO7Ac.5954C>G (p.Pro1985Arg)
c.3772-17C>G
c.5807C>G (p.Pro1936Arg)
c.3380C>G (p.Pro1127Arg)
c.5840C>G (p.Pro1947Arg)
n.3490C>G
n.868C>G
c.5837C>G (p.Pro1946Arg)
c.5945C>G (p.Pro1982Arg)
c.5948C>G (p.Pro1983Arg)
c.5921C>G (p.Pro1974Arg)
c.5858C>G (p.Pro1953Arg)
c.5729C>G (p.Pro1910Arg)
c.5717C>G (p.Pro1906Arg)
c.5690C>G (p.Pro1897Arg)
n.6274C>G
n.6265-17C>G
c.6044C>G (p.Pro2015Arg)
c.6038C>G (p.Pro2013Arg)
c.6035C>G (p.Pro2012Arg)
c.5930C>G (p.Pro1977Arg)
c.5927C>G (p.Pro1976Arg)
n.6050-17C>G
n.5974C>G
n.6036-17C>G
11g.77208706C>TCA381934042MYO7Ac.5954C>T (p.Pro1985Leu)
c.3772-17C>T
c.5807C>T (p.Pro1936Leu)
c.3380C>T (p.Pro1127Leu)
c.5840C>T (p.Pro1947Leu)
n.3490C>T
n.868C>T
c.5837C>T (p.Pro1946Leu)
c.5945C>T (p.Pro1982Leu)
c.5948C>T (p.Pro1983Leu)
c.5921C>T (p.Pro1974Leu)
c.5858C>T (p.Pro1953Leu)
c.5729C>T (p.Pro1910Leu)
c.5717C>T (p.Pro1906Leu)
c.5690C>T (p.Pro1897Leu)
n.6274C>T
n.6265-17C>T
c.6044C>T (p.Pro2015Leu)
c.6038C>T (p.Pro2013Leu)
c.6035C>T (p.Pro2012Leu)
c.5930C>T (p.Pro1977Leu)
c.5927C>T (p.Pro1976Leu)
n.6050-17C>T
n.5974C>T
n.6036-17C>T
11g.77208707C>ACA475791662MYO7Ac.5955C>A (p.Pro1985=)
c.3772-16C>A
c.5808C>A (p.Pro1936=)
c.3381C>A (p.Pro1127=)
c.5841C>A (p.Pro1947=)
n.3491C>A
n.869C>A
c.5838C>A (p.Pro1946=)
c.5946C>A (p.Pro1982=)
c.5949C>A (p.Pro1983=)
c.5922C>A (p.Pro1974=)
c.5859C>A (p.Pro1953=)
c.5730C>A (p.Pro1910=)
c.5718C>A (p.Pro1906=)
c.5691C>A (p.Pro1897=)
n.6275C>A
n.6265-16C>A
c.6045C>A (p.Pro2015=)
c.6039C>A (p.Pro2013=)
c.6036C>A (p.Pro2012=)
c.5931C>A (p.Pro1977=)
c.5928C>A (p.Pro1976=)
n.6050-16C>A
n.5975C>A
n.6036-16C>A
11g.77208707C>GCA475791663MYO7Ac.5955C>G (p.Pro1985=)
c.3772-16C>G
c.5808C>G (p.Pro1936=)
c.3381C>G (p.Pro1127=)
c.5841C>G (p.Pro1947=)
n.3491C>G
n.869C>G
c.5838C>G (p.Pro1946=)
c.5946C>G (p.Pro1982=)
c.5949C>G (p.Pro1983=)
c.5922C>G (p.Pro1974=)
c.5859C>G (p.Pro1953=)
c.5730C>G (p.Pro1910=)
c.5718C>G (p.Pro1906=)
c.5691C>G (p.Pro1897=)
n.6275C>G
n.6265-16C>G
c.6045C>G (p.Pro2015=)
c.6039C>G (p.Pro2013=)
c.6036C>G (p.Pro2012=)
c.5931C>G (p.Pro1977=)
c.5928C>G (p.Pro1976=)
n.6050-16C>G
n.5975C>G
n.6036-16C>G
11g.77208707C>TCA475791664MYO7Ac.5955C>T (p.Pro1985=)
c.3772-16C>T
c.5808C>T (p.Pro1936=)
c.3381C>T (p.Pro1127=)
c.5841C>T (p.Pro1947=)
n.3491C>T
n.869C>T
c.5838C>T (p.Pro1946=)
c.5946C>T (p.Pro1982=)
c.5949C>T (p.Pro1983=)
c.5922C>T (p.Pro1974=)
c.5859C>T (p.Pro1953=)
c.5730C>T (p.Pro1910=)
c.5718C>T (p.Pro1906=)
c.5691C>T (p.Pro1897=)
n.6275C>T
n.6265-16C>T
c.6045C>T (p.Pro2015=)
c.6039C>T (p.Pro2013=)
c.6036C>T (p.Pro2012=)
c.5931C>T (p.Pro1977=)
c.5928C>T (p.Pro1976=)
n.6050-16C>T
n.5975C>T
n.6036-16C>T
 gnomAD v4
11g.77208712_77208715dupCA658822335MYO7Ac.5960_5963dup (p.Tyr1989HisfsTer?)
c.3772-11_3772-8dup
c.5813_5816dup (p.Tyr1940HisfsTer?)
c.3386_3389dup (p.Tyr1131HisfsTer?)
c.5846_5849dup (p.Tyr1951HisfsTer?)
n.3496_3499dup
n.874_877dup
c.5843_5846dup (p.Tyr1950HisfsTer?)
c.5951_5954dup (p.Tyr1986HisfsTer?)
c.5954_5957dup (p.Tyr1987HisfsTer?)
c.5927_5930dup (p.Tyr1978HisfsTer?)
c.5864_5867dup (p.Tyr1957HisfsTer?)
c.5735_5738dup (p.Tyr1914HisfsTer?)
c.5723_5726dup (p.Tyr1910HisfsTer?)
c.5696_5699dup (p.Tyr1901HisfsTer?)
n.6280_6283dup
n.6265-11_6265-8dup
c.6050_6053dup (p.Tyr2019HisfsTer?)
c.6044_6047dup (p.Tyr2017HisfsTer?)
c.6041_6044dup (p.Tyr2016HisfsTer?)
c.5936_5939dup (p.Tyr1981HisfsTer?)
c.5933_5936dup (p.Tyr1980HisfsTer?)
n.6050-11_6050-8dup
n.5980_5983dup
n.6036-11_6036-8dup
 ClinVar dbSNP
11g.77208708T>ACA381934047MYO7Ac.5956T>A (p.Ser1986Thr)
c.3772-15T>A
c.5809T>A (p.Ser1937Thr)
c.3382T>A (p.Ser1128Thr)
c.5842T>A (p.Ser1948Thr)
n.3492T>A
n.870T>A
c.5839T>A (p.Ser1947Thr)
c.5947T>A (p.Ser1983Thr)
c.5950T>A (p.Ser1984Thr)
c.5923T>A (p.Ser1975Thr)
c.5860T>A (p.Ser1954Thr)
c.5731T>A (p.Ser1911Thr)
c.5719T>A (p.Ser1907Thr)
c.5692T>A (p.Ser1898Thr)
n.6276T>A
n.6265-15T>A
c.6046T>A (p.Ser2016Thr)
c.6040T>A (p.Ser2014Thr)
c.6037T>A (p.Ser2013Thr)
c.5932T>A (p.Ser1978Thr)
c.5929T>A (p.Ser1977Thr)
n.6050-15T>A
n.5976T>A
n.6036-15T>A
 gnomAD v4
11g.77208708T>CCA381934050MYO7Ac.5956T>C (p.Ser1986Pro)
c.3772-15T>C
c.5809T>C (p.Ser1937Pro)
c.3382T>C (p.Ser1128Pro)
c.5842T>C (p.Ser1948Pro)
n.3492T>C
n.870T>C
c.5839T>C (p.Ser1947Pro)
c.5947T>C (p.Ser1983Pro)
c.5950T>C (p.Ser1984Pro)
c.5923T>C (p.Ser1975Pro)
c.5860T>C (p.Ser1954Pro)
c.5731T>C (p.Ser1911Pro)
c.5719T>C (p.Ser1907Pro)
c.5692T>C (p.Ser1898Pro)
n.6276T>C
n.6265-15T>C
c.6046T>C (p.Ser2016Pro)
c.6040T>C (p.Ser2014Pro)
c.6037T>C (p.Ser2013Pro)
c.5932T>C (p.Ser1978Pro)
c.5929T>C (p.Ser1977Pro)
n.6050-15T>C
n.5976T>C
n.6036-15T>C
 gnomAD v4
11g.77208708T>GCA381934051MYO7Ac.5956T>G (p.Ser1986Ala)
c.3772-15T>G
c.5809T>G (p.Ser1937Ala)
c.3382T>G (p.Ser1128Ala)
c.5842T>G (p.Ser1948Ala)
n.3492T>G
n.870T>G
c.5839T>G (p.Ser1947Ala)
c.5947T>G (p.Ser1983Ala)
c.5950T>G (p.Ser1984Ala)
c.5923T>G (p.Ser1975Ala)
c.5860T>G (p.Ser1954Ala)
c.5731T>G (p.Ser1911Ala)
c.5719T>G (p.Ser1907Ala)
c.5692T>G (p.Ser1898Ala)
n.6276T>G
n.6265-15T>G
c.6046T>G (p.Ser2016Ala)
c.6040T>G (p.Ser2014Ala)
c.6037T>G (p.Ser2013Ala)
c.5932T>G (p.Ser1978Ala)
c.5929T>G (p.Ser1977Ala)
n.6050-15T>G
n.5976T>G
n.6036-15T>G
11g.77208709C>ACA381934056MYO7Ac.5957C>A (p.Ser1986Ter)
c.3772-14C>A
c.5810C>A (p.Ser1937Ter)
c.3383C>A (p.Ser1128Ter)
c.5843C>A (p.Ser1948Ter)
n.3493C>A
n.871C>A
c.5840C>A (p.Ser1947Ter)
c.5948C>A (p.Ser1983Ter)
c.5951C>A (p.Ser1984Ter)
c.5924C>A (p.Ser1975Ter)
c.5861C>A (p.Ser1954Ter)
c.5732C>A (p.Ser1911Ter)
c.5720C>A (p.Ser1907Ter)
c.5693C>A (p.Ser1898Ter)
n.6277C>A
n.6265-14C>A
c.6047C>A (p.Ser2016Ter)
c.6041C>A (p.Ser2014Ter)
c.6038C>A (p.Ser2013Ter)
c.5933C>A (p.Ser1978Ter)
c.5930C>A (p.Ser1977Ter)
n.6050-14C>A
n.5977C>A
n.6036-14C>A
 gnomAD v4
11g.77208709C=CA1984128569MYO7Ac.5957C= (p.Ser1986=)
c.3772-14C=
c.5810C= (p.Ser1937=)
c.3383C= (p.Ser1128=)
c.5843C= (p.Ser1948=)
n.3493C=
n.871C=
c.5840C= (p.Ser1947=)
c.5948C= (p.Ser1983=)
c.5951C= (p.Ser1984=)
c.5924C= (p.Ser1975=)
c.5861C= (p.Ser1954=)
c.5732C= (p.Ser1911=)
c.5720C= (p.Ser1907=)
c.5693C= (p.Ser1898=)
n.6277C=
n.6265-14C=
c.6047C= (p.Ser2016=)
c.6041C= (p.Ser2014=)
c.6038C= (p.Ser2013=)
c.5933C= (p.Ser1978=)
c.5930C= (p.Ser1977=)
n.6050-14C=
n.5977C=
n.6036-14C=
11g.77208709C>GCA381934058MYO7Ac.5957C>G (p.Ser1986Ter)
c.3772-14C>G
c.5810C>G (p.Ser1937Ter)
c.3383C>G (p.Ser1128Ter)
c.5843C>G (p.Ser1948Ter)
n.3493C>G
n.871C>G
c.5840C>G (p.Ser1947Ter)
c.5948C>G (p.Ser1983Ter)
c.5951C>G (p.Ser1984Ter)
c.5924C>G (p.Ser1975Ter)
c.5861C>G (p.Ser1954Ter)
c.5732C>G (p.Ser1911Ter)
c.5720C>G (p.Ser1907Ter)
c.5693C>G (p.Ser1898Ter)
n.6277C>G
n.6265-14C>G
c.6047C>G (p.Ser2016Ter)
c.6041C>G (p.Ser2014Ter)
c.6038C>G (p.Ser2013Ter)
c.5933C>G (p.Ser1978Ter)
c.5930C>G (p.Ser1977Ter)
n.6050-14C>G
n.5977C>G
n.6036-14C>G
11g.77208709C>TCA381934061MYO7Ac.5957C>T (p.Ser1986Leu)
c.3772-14C>T
c.5810C>T (p.Ser1937Leu)
c.3383C>T (p.Ser1128Leu)
c.5843C>T (p.Ser1948Leu)
n.3493C>T
n.871C>T
c.5840C>T (p.Ser1947Leu)
c.5948C>T (p.Ser1983Leu)
c.5951C>T (p.Ser1984Leu)
c.5924C>T (p.Ser1975Leu)
c.5861C>T (p.Ser1954Leu)
c.5732C>T (p.Ser1911Leu)
c.5720C>T (p.Ser1907Leu)
c.5693C>T (p.Ser1898Leu)
n.6277C>T
n.6265-14C>T
c.6047C>T (p.Ser2016Leu)
c.6041C>T (p.Ser2014Leu)
c.6038C>T (p.Ser2013Leu)
c.5933C>T (p.Ser1978Leu)
c.5930C>T (p.Ser1977Leu)
n.6050-14C>T
n.5977C>T
n.6036-14C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77208710_77208711delCA2615256010MYO7Ac.5958_5959del (p.Leu1987HisfsTer?)
c.3772-13_3772-12del
c.5811_5812del (p.Leu1938HisfsTer?)
c.3384_3385del (p.Leu1129HisfsTer?)
c.5844_5845del (p.Leu1949HisfsTer?)
n.3494_3495del
n.872_873del
c.5841_5842del (p.Leu1948HisfsTer?)
c.5949_5950del (p.Leu1984HisfsTer?)
c.5952_5953del (p.Leu1985HisfsTer?)
c.5925_5926del (p.Leu1976HisfsTer?)
c.5862_5863del (p.Leu1955HisfsTer?)
c.5733_5734del (p.Leu1912HisfsTer?)
c.5721_5722del (p.Leu1908HisfsTer?)
c.5694_5695del (p.Leu1899HisfsTer?)
n.6278_6279del
n.6265-13_6265-12del
c.6048_6049del (p.Leu2017HisfsTer?)
c.6042_6043del (p.Leu2015HisfsTer?)
c.6039_6040del (p.Leu2014HisfsTer?)
c.5934_5935del (p.Leu1979HisfsTer?)
c.5931_5932del (p.Leu1978HisfsTer?)
n.6050-13_6050-12del
n.5978_5979del
n.6036-13_6036-12del
 gnomAD v4
11g.77208710A>CCA475791665MYO7Ac.5958A>C (p.Ser1986=)
c.3772-13A>C
c.5811A>C (p.Ser1937=)
c.3384A>C (p.Ser1128=)
c.5844A>C (p.Ser1948=)
n.3494A>C
n.872A>C
c.5841A>C (p.Ser1947=)
c.5949A>C (p.Ser1983=)
c.5952A>C (p.Ser1984=)
c.5925A>C (p.Ser1975=)
c.5862A>C (p.Ser1954=)
c.5733A>C (p.Ser1911=)
c.5721A>C (p.Ser1907=)
c.5694A>C (p.Ser1898=)
n.6278A>C
n.6265-13A>C
c.6048A>C (p.Ser2016=)
c.6042A>C (p.Ser2014=)
c.6039A>C (p.Ser2013=)
c.5934A>C (p.Ser1978=)
c.5931A>C (p.Ser1977=)
n.6050-13A>C
n.5978A>C
n.6036-13A>C
 dbSNP
11g.77208710A>GCA475791666MYO7Ac.5958A>G (p.Ser1986=)
c.3772-13A>G
c.5811A>G (p.Ser1937=)
c.3384A>G (p.Ser1128=)
c.5844A>G (p.Ser1948=)
n.3494A>G
n.872A>G
c.5841A>G (p.Ser1947=)
c.5949A>G (p.Ser1983=)
c.5952A>G (p.Ser1984=)
c.5925A>G (p.Ser1975=)
c.5862A>G (p.Ser1954=)
c.5733A>G (p.Ser1911=)
c.5721A>G (p.Ser1907=)
c.5694A>G (p.Ser1898=)
n.6278A>G
n.6265-13A>G
c.6048A>G (p.Ser2016=)
c.6042A>G (p.Ser2014=)
c.6039A>G (p.Ser2013=)
c.5934A>G (p.Ser1978=)
c.5931A>G (p.Ser1977=)
n.6050-13A>G
n.5978A>G
n.6036-13A>G
 ClinVar dbSNP gnomAD v4
11g.77208710A>TCA475791667MYO7Ac.5958A>T (p.Ser1986=)
c.3772-13A>T
c.5811A>T (p.Ser1937=)
c.3384A>T (p.Ser1128=)
c.5844A>T (p.Ser1948=)
n.3494A>T
n.872A>T
c.5841A>T (p.Ser1947=)
c.5949A>T (p.Ser1983=)
c.5952A>T (p.Ser1984=)
c.5925A>T (p.Ser1975=)
c.5862A>T (p.Ser1954=)
c.5733A>T (p.Ser1911=)
c.5721A>T (p.Ser1907=)
c.5694A>T (p.Ser1898=)
n.6278A>T
n.6265-13A>T
c.6048A>T (p.Ser2016=)
c.6042A>T (p.Ser2014=)
c.6039A>T (p.Ser2013=)
c.5934A>T (p.Ser1978=)
c.5931A>T (p.Ser1977=)
n.6050-13A>T
n.5978A>T
n.6036-13A>T
 gnomAD v4
11g.77208710dupCA2695215064MYO7Ac.5958dup (p.Leu1987ThrfsTer?)
c.3772-13dup
c.5811dup (p.Leu1938ThrfsTer?)
c.3384dup (p.Leu1129ThrfsTer?)
c.5844dup (p.Leu1949ThrfsTer?)
n.3494dup
n.872dup
c.5841dup (p.Leu1948ThrfsTer?)
c.5949dup (p.Leu1984ThrfsTer?)
c.5952dup (p.Leu1985ThrfsTer?)
c.5925dup (p.Leu1976ThrfsTer?)
c.5862dup (p.Leu1955ThrfsTer?)
c.5733dup (p.Leu1912ThrfsTer?)
c.5721dup (p.Leu1908ThrfsTer?)
c.5694dup (p.Leu1899ThrfsTer?)
n.6278dup
n.6265-13dup
c.6048dup (p.Leu2017ThrfsTer?)
c.6042dup (p.Leu2015ThrfsTer?)
c.6039dup (p.Leu2014ThrfsTer?)
c.5934dup (p.Leu1979ThrfsTer?)
c.5931dup (p.Leu1978ThrfsTer?)
n.6050-13dup
n.5978dup
n.6036-13dup
11g.77208711C>ACA381934064MYO7Ac.5959C>A (p.Leu1987Ile)
c.3772-12C>A
c.5812C>A (p.Leu1938Ile)
c.3385C>A (p.Leu1129Ile)
c.5845C>A (p.Leu1949Ile)
n.3495C>A
n.873C>A
c.5842C>A (p.Leu1948Ile)
c.5950C>A (p.Leu1984Ile)
c.5953C>A (p.Leu1985Ile)
c.5926C>A (p.Leu1976Ile)
c.5863C>A (p.Leu1955Ile)
c.5734C>A (p.Leu1912Ile)
c.5722C>A (p.Leu1908Ile)
c.5695C>A (p.Leu1899Ile)
n.6279C>A
n.6265-12C>A
c.6049C>A (p.Leu2017Ile)
c.6043C>A (p.Leu2015Ile)
c.6040C>A (p.Leu2014Ile)
c.5935C>A (p.Leu1979Ile)
c.5932C>A (p.Leu1978Ile)
n.6050-12C>A
n.5979C>A
n.6036-12C>A
 gnomAD v4
11g.77208711C>GCA381934069MYO7Ac.5959C>G (p.Leu1987Val)
c.3772-12C>G
c.5812C>G (p.Leu1938Val)
c.3385C>G (p.Leu1129Val)
c.5845C>G (p.Leu1949Val)
n.3495C>G
n.873C>G
c.5842C>G (p.Leu1948Val)
c.5950C>G (p.Leu1984Val)
c.5953C>G (p.Leu1985Val)
c.5926C>G (p.Leu1976Val)
c.5863C>G (p.Leu1955Val)
c.5734C>G (p.Leu1912Val)
c.5722C>G (p.Leu1908Val)
c.5695C>G (p.Leu1899Val)
n.6279C>G
n.6265-12C>G
c.6049C>G (p.Leu2017Val)
c.6043C>G (p.Leu2015Val)
c.6040C>G (p.Leu2014Val)
c.5935C>G (p.Leu1979Val)
c.5932C>G (p.Leu1978Val)
n.6050-12C>G
n.5979C>G
n.6036-12C>G
11g.77208711C>TCA381934067MYO7Ac.5959C>T (p.Leu1987Phe)
c.3772-12C>T
c.5812C>T (p.Leu1938Phe)
c.3385C>T (p.Leu1129Phe)
c.5845C>T (p.Leu1949Phe)
n.3495C>T
n.873C>T
c.5842C>T (p.Leu1948Phe)
c.5950C>T (p.Leu1984Phe)
c.5953C>T (p.Leu1985Phe)
c.5926C>T (p.Leu1976Phe)
c.5863C>T (p.Leu1955Phe)
c.5734C>T (p.Leu1912Phe)
c.5722C>T (p.Leu1908Phe)
c.5695C>T (p.Leu1899Phe)
n.6279C>T
n.6265-12C>T
c.6049C>T (p.Leu2017Phe)
c.6043C>T (p.Leu2015Phe)
c.6040C>T (p.Leu2014Phe)
c.5935C>T (p.Leu1979Phe)
c.5932C>T (p.Leu1978Phe)
n.6050-12C>T
n.5979C>T
n.6036-12C>T
11g.77208712T>ACA381934073MYO7Ac.5960T>A (p.Leu1987His)
c.3772-11T>A
c.5813T>A (p.Leu1938His)
c.3386T>A (p.Leu1129His)
c.5846T>A (p.Leu1949His)
n.3496T>A
n.874T>A
c.5843T>A (p.Leu1948His)
c.5951T>A (p.Leu1984His)
c.5954T>A (p.Leu1985His)
c.5927T>A (p.Leu1976His)
c.5864T>A (p.Leu1955His)
c.5735T>A (p.Leu1912His)
c.5723T>A (p.Leu1908His)
c.5696T>A (p.Leu1899His)
n.6280T>A
n.6265-11T>A
c.6050T>A (p.Leu2017His)
c.6044T>A (p.Leu2015His)
c.6041T>A (p.Leu2014His)
c.5936T>A (p.Leu1979His)
c.5933T>A (p.Leu1978His)
n.6050-11T>A
n.5980T>A
n.6036-11T>A
 gnomAD v4
11g.77208712T>CCA381934076MYO7Ac.5960T>C (p.Leu1987Pro)
c.3772-11T>C
c.5813T>C (p.Leu1938Pro)
c.3386T>C (p.Leu1129Pro)
c.5846T>C (p.Leu1949Pro)
n.3496T>C
n.874T>C
c.5843T>C (p.Leu1948Pro)
c.5951T>C (p.Leu1984Pro)
c.5954T>C (p.Leu1985Pro)
c.5927T>C (p.Leu1976Pro)
c.5864T>C (p.Leu1955Pro)
c.5735T>C (p.Leu1912Pro)
c.5723T>C (p.Leu1908Pro)
c.5696T>C (p.Leu1899Pro)
n.6280T>C
n.6265-11T>C
c.6050T>C (p.Leu2017Pro)
c.6044T>C (p.Leu2015Pro)
c.6041T>C (p.Leu2014Pro)
c.5936T>C (p.Leu1979Pro)
c.5933T>C (p.Leu1978Pro)
n.6050-11T>C
n.5980T>C
n.6036-11T>C
 gnomAD v4
11g.77208712T>GCA381934078MYO7Ac.5960T>G (p.Leu1987Arg)
c.3772-11T>G
c.5813T>G (p.Leu1938Arg)
c.3386T>G (p.Leu1129Arg)
c.5846T>G (p.Leu1949Arg)
n.3496T>G
n.874T>G
c.5843T>G (p.Leu1948Arg)
c.5951T>G (p.Leu1984Arg)
c.5954T>G (p.Leu1985Arg)
c.5927T>G (p.Leu1976Arg)
c.5864T>G (p.Leu1955Arg)
c.5735T>G (p.Leu1912Arg)
c.5723T>G (p.Leu1908Arg)
c.5696T>G (p.Leu1899Arg)
n.6280T>G
n.6265-11T>G
c.6050T>G (p.Leu2017Arg)
c.6044T>G (p.Leu2015Arg)
c.6041T>G (p.Leu2014Arg)
c.5936T>G (p.Leu1979Arg)
c.5933T>G (p.Leu1978Arg)
n.6050-11T>G
n.5980T>G
n.6036-11T>G
11g.77208713C>ACA475791668MYO7Ac.5961C>A (p.Leu1987=)
c.3772-10C>A
c.5814C>A (p.Leu1938=)
c.3387C>A (p.Leu1129=)
c.5847C>A (p.Leu1949=)
n.3497C>A
n.875C>A
c.5844C>A (p.Leu1948=)
c.5952C>A (p.Leu1984=)
c.5955C>A (p.Leu1985=)
c.5928C>A (p.Leu1976=)
c.5865C>A (p.Leu1955=)
c.5736C>A (p.Leu1912=)
c.5724C>A (p.Leu1908=)
c.5697C>A (p.Leu1899=)
n.6281C>A
n.6265-10C>A
c.6051C>A (p.Leu2017=)
c.6045C>A (p.Leu2015=)
c.6042C>A (p.Leu2014=)
c.5937C>A (p.Leu1979=)
c.5934C>A (p.Leu1978=)
n.6050-10C>A
n.5981C>A
n.6036-10C>A
 gnomAD v4
11g.77208713C=CA1984128570MYO7Ac.5961C= (p.Leu1987=)
c.3772-10C=
c.5814C= (p.Leu1938=)
c.3387C= (p.Leu1129=)
c.5847C= (p.Leu1949=)
n.3497C=
n.875C=
c.5844C= (p.Leu1948=)
c.5952C= (p.Leu1984=)
c.5955C= (p.Leu1985=)
c.5928C= (p.Leu1976=)
c.5865C= (p.Leu1955=)
c.5736C= (p.Leu1912=)
c.5724C= (p.Leu1908=)
c.5697C= (p.Leu1899=)
n.6281C=
n.6265-10C=
c.6051C= (p.Leu2017=)
c.6045C= (p.Leu2015=)
c.6042C= (p.Leu2014=)
c.5937C= (p.Leu1979=)
c.5934C= (p.Leu1978=)
n.6050-10C=
n.5981C=
n.6036-10C=
11g.77208713C>GCA475791669MYO7Ac.5961C>G (p.Leu1987=)
c.3772-10C>G
c.5814C>G (p.Leu1938=)
c.3387C>G (p.Leu1129=)
c.5847C>G (p.Leu1949=)
n.3497C>G
n.875C>G
c.5844C>G (p.Leu1948=)
c.5952C>G (p.Leu1984=)
c.5955C>G (p.Leu1985=)
c.5928C>G (p.Leu1976=)
c.5865C>G (p.Leu1955=)
c.5736C>G (p.Leu1912=)
c.5724C>G (p.Leu1908=)
c.5697C>G (p.Leu1899=)
n.6281C>G
n.6265-10C>G
c.6051C>G (p.Leu2017=)
c.6045C>G (p.Leu2015=)
c.6042C>G (p.Leu2014=)
c.5937C>G (p.Leu1979=)
c.5934C>G (p.Leu1978=)
n.6050-10C>G
n.5981C>G
n.6036-10C>G
11g.77208713C>TCA6198892MYO7Ac.5961C>T (p.Leu1987=)
c.3772-10C>T
c.5814C>T (p.Leu1938=)
c.3387C>T (p.Leu1129=)
c.5847C>T (p.Leu1949=)
n.3497C>T
n.875C>T
c.5844C>T (p.Leu1948=)
c.5952C>T (p.Leu1984=)
c.5955C>T (p.Leu1985=)
c.5928C>T (p.Leu1976=)
c.5865C>T (p.Leu1955=)
c.5736C>T (p.Leu1912=)
c.5724C>T (p.Leu1908=)
c.5697C>T (p.Leu1899=)
n.6281C>T
n.6265-10C>T
c.6051C>T (p.Leu2017=)
c.6045C>T (p.Leu2015=)
c.6042C>T (p.Leu2014=)
c.5937C>T (p.Leu1979=)
c.5934C>T (p.Leu1978=)
n.6050-10C>T
n.5981C>T
n.6036-10C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208714A=CA1984128571MYO7Ac.5962A= (p.Thr1988=)
c.3772-9A=
c.5815A= (p.Thr1939=)
c.3388A= (p.Thr1130=)
c.5848A= (p.Thr1950=)
n.3498A=
n.876A=
c.5845A= (p.Thr1949=)
c.5953A= (p.Thr1985=)
c.5956A= (p.Thr1986=)
c.5929A= (p.Thr1977=)
c.5866A= (p.Thr1956=)
c.5737A= (p.Thr1913=)
c.5725A= (p.Thr1909=)
c.5698A= (p.Thr1900=)
n.6282A=
n.6265-9A=
c.6052A= (p.Thr2018=)
c.6046A= (p.Thr2016=)
c.6043A= (p.Thr2015=)
c.5938A= (p.Thr1980=)
c.5935A= (p.Thr1979=)
n.6050-9A=
n.5982A=
n.6036-9A=
11g.77208714A>CCA381934086MYO7Ac.5962A>C (p.Thr1988Pro)
c.3772-9A>C
c.5815A>C (p.Thr1939Pro)
c.3388A>C (p.Thr1130Pro)
c.5848A>C (p.Thr1950Pro)
n.3498A>C
n.876A>C
c.5845A>C (p.Thr1949Pro)
c.5953A>C (p.Thr1985Pro)
c.5956A>C (p.Thr1986Pro)
c.5929A>C (p.Thr1977Pro)
c.5866A>C (p.Thr1956Pro)
c.5737A>C (p.Thr1913Pro)
c.5725A>C (p.Thr1909Pro)
c.5698A>C (p.Thr1900Pro)
n.6282A>C
n.6265-9A>C
c.6052A>C (p.Thr2018Pro)
c.6046A>C (p.Thr2016Pro)
c.6043A>C (p.Thr2015Pro)
c.5938A>C (p.Thr1980Pro)
c.5935A>C (p.Thr1979Pro)
n.6050-9A>C
n.5982A>C
n.6036-9A>C
 dbSNP
11g.77208714A>GCA381934089MYO7Ac.5962A>G (p.Thr1988Ala)
c.3772-9A>G
c.5815A>G (p.Thr1939Ala)
c.3388A>G (p.Thr1130Ala)
c.5848A>G (p.Thr1950Ala)
n.3498A>G
n.876A>G
c.5845A>G (p.Thr1949Ala)
c.5953A>G (p.Thr1985Ala)
c.5956A>G (p.Thr1986Ala)
c.5929A>G (p.Thr1977Ala)
c.5866A>G (p.Thr1956Ala)
c.5737A>G (p.Thr1913Ala)
c.5725A>G (p.Thr1909Ala)
c.5698A>G (p.Thr1900Ala)
n.6282A>G
n.6265-9A>G
c.6052A>G (p.Thr2018Ala)
c.6046A>G (p.Thr2016Ala)
c.6043A>G (p.Thr2015Ala)
c.5938A>G (p.Thr1980Ala)
c.5935A>G (p.Thr1979Ala)
n.6050-9A>G
n.5982A>G
n.6036-9A>G
 ClinVar dbSNP
11g.77208714A>TCA381934091MYO7Ac.5962A>T (p.Thr1988Ser)
c.3772-9A>T
c.5815A>T (p.Thr1939Ser)
c.3388A>T (p.Thr1130Ser)
c.5848A>T (p.Thr1950Ser)
n.3498A>T
n.876A>T
c.5845A>T (p.Thr1949Ser)
c.5953A>T (p.Thr1985Ser)
c.5956A>T (p.Thr1986Ser)
c.5929A>T (p.Thr1977Ser)
c.5866A>T (p.Thr1956Ser)
c.5737A>T (p.Thr1913Ser)
c.5725A>T (p.Thr1909Ser)
c.5698A>T (p.Thr1900Ser)
n.6282A>T
n.6265-9A>T
c.6052A>T (p.Thr2018Ser)
c.6046A>T (p.Thr2016Ser)
c.6043A>T (p.Thr2015Ser)
c.5938A>T (p.Thr1980Ser)
c.5935A>T (p.Thr1979Ser)
n.6050-9A>T
n.5982A>T
n.6036-9A>T
 gnomAD v3 gnomAD v4
11g.77208715C>ACA381934095MYO7Ac.5963C>A (p.Thr1988Asn)
c.3772-8C>A
c.5816C>A (p.Thr1939Asn)
c.3389C>A (p.Thr1130Asn)
c.5849C>A (p.Thr1950Asn)
n.3499C>A
n.877C>A
c.5846C>A (p.Thr1949Asn)
c.5954C>A (p.Thr1985Asn)
c.5957C>A (p.Thr1986Asn)
c.5930C>A (p.Thr1977Asn)
c.5867C>A (p.Thr1956Asn)
c.5738C>A (p.Thr1913Asn)
c.5726C>A (p.Thr1909Asn)
c.5699C>A (p.Thr1900Asn)
n.6283C>A
n.6265-8C>A
c.6053C>A (p.Thr2018Asn)
c.6047C>A (p.Thr2016Asn)
c.6044C>A (p.Thr2015Asn)
c.5939C>A (p.Thr1980Asn)
c.5936C>A (p.Thr1979Asn)
n.6050-8C>A
n.5983C>A
n.6036-8C>A
 gnomAD v4
11g.77208715C=CA1984128572MYO7Ac.5963C= (p.Thr1988=)
c.3772-8C=
c.5816C= (p.Thr1939=)
c.3389C= (p.Thr1130=)
c.5849C= (p.Thr1950=)
n.3499C=
n.877C=
c.5846C= (p.Thr1949=)
c.5954C= (p.Thr1985=)
c.5957C= (p.Thr1986=)
c.5930C= (p.Thr1977=)
c.5867C= (p.Thr1956=)
c.5738C= (p.Thr1913=)
c.5726C= (p.Thr1909=)
c.5699C= (p.Thr1900=)
n.6283C=
n.6265-8C=
c.6053C= (p.Thr2018=)
c.6047C= (p.Thr2016=)
c.6044C= (p.Thr2015=)
c.5939C= (p.Thr1980=)
c.5936C= (p.Thr1979=)
n.6050-8C=
n.5983C=
n.6036-8C=
11g.77208715C>GCA381934098MYO7Ac.5963C>G (p.Thr1988Ser)
c.3772-8C>G
c.5816C>G (p.Thr1939Ser)
c.3389C>G (p.Thr1130Ser)
c.5849C>G (p.Thr1950Ser)
n.3499C>G
n.877C>G
c.5846C>G (p.Thr1949Ser)
c.5954C>G (p.Thr1985Ser)
c.5957C>G (p.Thr1986Ser)
c.5930C>G (p.Thr1977Ser)
c.5867C>G (p.Thr1956Ser)
c.5738C>G (p.Thr1913Ser)
c.5726C>G (p.Thr1909Ser)
c.5699C>G (p.Thr1900Ser)
n.6283C>G
n.6265-8C>G
c.6053C>G (p.Thr2018Ser)
c.6047C>G (p.Thr2016Ser)
c.6044C>G (p.Thr2015Ser)
c.5939C>G (p.Thr1980Ser)
c.5936C>G (p.Thr1979Ser)
n.6050-8C>G
n.5983C>G
n.6036-8C>G
11g.77208715C>TCA381934101MYO7Ac.5963C>T (p.Thr1988Ile)
c.3772-8C>T
c.5816C>T (p.Thr1939Ile)
c.3389C>T (p.Thr1130Ile)
c.5849C>T (p.Thr1950Ile)
n.3499C>T
n.877C>T
c.5846C>T (p.Thr1949Ile)
c.5954C>T (p.Thr1985Ile)
c.5957C>T (p.Thr1986Ile)
c.5930C>T (p.Thr1977Ile)
c.5867C>T (p.Thr1956Ile)
c.5738C>T (p.Thr1913Ile)
c.5726C>T (p.Thr1909Ile)
c.5699C>T (p.Thr1900Ile)
n.6283C>T
n.6265-8C>T
c.6053C>T (p.Thr2018Ile)
c.6047C>T (p.Thr2016Ile)
c.6044C>T (p.Thr2015Ile)
c.5939C>T (p.Thr1980Ile)
c.5936C>T (p.Thr1979Ile)
n.6050-8C>T
n.5983C>T
n.6036-8C>T
 ClinVar dbSNP gnomAD v4
11g.77208716C>ACA475791670MYO7Ac.5964C>A (p.Thr1988=)
c.3772-7C>A
c.5817C>A (p.Thr1939=)
c.3390C>A (p.Thr1130=)
c.5850C>A (p.Thr1950=)
n.3500C>A
n.878C>A
c.5847C>A (p.Thr1949=)
c.5955C>A (p.Thr1985=)
c.5958C>A (p.Thr1986=)
c.5931C>A (p.Thr1977=)
c.5868C>A (p.Thr1956=)
c.5739C>A (p.Thr1913=)
c.5727C>A (p.Thr1909=)
c.5700C>A (p.Thr1900=)
n.6284C>A
n.6265-7C>A
c.6054C>A (p.Thr2018=)
c.6048C>A (p.Thr2016=)
c.6045C>A (p.Thr2015=)
c.5940C>A (p.Thr1980=)
c.5937C>A (p.Thr1979=)
n.6050-7C>A
n.5984C>A
n.6036-7C>A
 gnomAD v4
11g.77208716C=CA1984128573MYO7Ac.5964C= (p.Thr1988=)
c.3772-7C=
c.5817C= (p.Thr1939=)
c.3390C= (p.Thr1130=)
c.5850C= (p.Thr1950=)
n.3500C=
n.878C=
c.5847C= (p.Thr1949=)
c.5955C= (p.Thr1985=)
c.5958C= (p.Thr1986=)
c.5931C= (p.Thr1977=)
c.5868C= (p.Thr1956=)
c.5739C= (p.Thr1913=)
c.5727C= (p.Thr1909=)
c.5700C= (p.Thr1900=)
n.6284C=
n.6265-7C=
c.6054C= (p.Thr2018=)
c.6048C= (p.Thr2016=)
c.6045C= (p.Thr2015=)
c.5940C= (p.Thr1980=)
c.5937C= (p.Thr1979=)
n.6050-7C=
n.5984C=
n.6036-7C=
11g.77208716C>GCA475791671MYO7Ac.5964C>G (p.Thr1988=)
c.3772-7C>G
c.5817C>G (p.Thr1939=)
c.3390C>G (p.Thr1130=)
c.5850C>G (p.Thr1950=)
n.3500C>G
n.878C>G
c.5847C>G (p.Thr1949=)
c.5955C>G (p.Thr1985=)
c.5958C>G (p.Thr1986=)
c.5931C>G (p.Thr1977=)
c.5868C>G (p.Thr1956=)
c.5739C>G (p.Thr1913=)
c.5727C>G (p.Thr1909=)
c.5700C>G (p.Thr1900=)
n.6284C>G
n.6265-7C>G
c.6054C>G (p.Thr2018=)
c.6048C>G (p.Thr2016=)
c.6045C>G (p.Thr2015=)
c.5940C>G (p.Thr1980=)
c.5937C>G (p.Thr1979=)
n.6050-7C>G
n.5984C>G
n.6036-7C>G
 dbSNP gnomAD v3 gnomAD v4
11g.77208716C>TCA475791672MYO7Ac.5964C>T (p.Thr1988=)
c.3772-7C>T
c.5817C>T (p.Thr1939=)
c.3390C>T (p.Thr1130=)
c.5850C>T (p.Thr1950=)
n.3500C>T
n.878C>T
c.5847C>T (p.Thr1949=)
c.5955C>T (p.Thr1985=)
c.5958C>T (p.Thr1986=)
c.5931C>T (p.Thr1977=)
c.5868C>T (p.Thr1956=)
c.5739C>T (p.Thr1913=)
c.5727C>T (p.Thr1909=)
c.5700C>T (p.Thr1900=)
n.6284C>T
n.6265-7C>T
c.6054C>T (p.Thr2018=)
c.6048C>T (p.Thr2016=)
c.6045C>T (p.Thr2015=)
c.5940C>T (p.Thr1980=)
c.5937C>T (p.Thr1979=)
n.6050-7C>T
n.5984C>T
n.6036-7C>T
 gnomAD v4
11g.77208717T>ACA381934107MYO7Ac.5965T>A (p.Tyr1989Asn)
c.3772-6T>A
c.5818T>A (p.Tyr1940Asn)
c.3391T>A (p.Tyr1131Asn)
c.5851T>A (p.Tyr1951Asn)
n.3501T>A
n.879T>A
c.5848T>A (p.Tyr1950Asn)
c.5956T>A (p.Tyr1986Asn)
c.5959T>A (p.Tyr1987Asn)
c.5932T>A (p.Tyr1978Asn)
c.5869T>A (p.Tyr1957Asn)
c.5740T>A (p.Tyr1914Asn)
c.5728T>A (p.Tyr1910Asn)
c.5701T>A (p.Tyr1901Asn)
n.6285T>A
n.6265-6T>A
c.6055T>A (p.Tyr2019Asn)
c.6049T>A (p.Tyr2017Asn)
c.6046T>A (p.Tyr2016Asn)
c.5941T>A (p.Tyr1981Asn)
c.5938T>A (p.Tyr1980Asn)
n.6050-6T>A
n.5985T>A
n.6036-6T>A
11g.77208717T>CCA381934124MYO7Ac.5965T>C (p.Tyr1989His)
c.3772-6T>C
c.5818T>C (p.Tyr1940His)
c.3391T>C (p.Tyr1131His)
c.5851T>C (p.Tyr1951His)
n.3501T>C
n.879T>C
c.5848T>C (p.Tyr1950His)
c.5956T>C (p.Tyr1986His)
c.5959T>C (p.Tyr1987His)
c.5932T>C (p.Tyr1978His)
c.5869T>C (p.Tyr1957His)
c.5740T>C (p.Tyr1914His)
c.5728T>C (p.Tyr1910His)
c.5701T>C (p.Tyr1901His)
n.6285T>C
n.6265-6T>C
c.6055T>C (p.Tyr2019His)
c.6049T>C (p.Tyr2017His)
c.6046T>C (p.Tyr2016His)
c.5941T>C (p.Tyr1981His)
c.5938T>C (p.Tyr1980His)
n.6050-6T>C
n.5985T>C
n.6036-6T>C
 gnomAD v4
11g.77208717T>GCA381934126MYO7Ac.5965T>G (p.Tyr1989Asp)
c.3772-6T>G
c.5818T>G (p.Tyr1940Asp)
c.3391T>G (p.Tyr1131Asp)
c.5851T>G (p.Tyr1951Asp)
n.3501T>G
n.879T>G
c.5848T>G (p.Tyr1950Asp)
c.5956T>G (p.Tyr1986Asp)
c.5959T>G (p.Tyr1987Asp)
c.5932T>G (p.Tyr1978Asp)
c.5869T>G (p.Tyr1957Asp)
c.5740T>G (p.Tyr1914Asp)
c.5728T>G (p.Tyr1910Asp)
c.5701T>G (p.Tyr1901Asp)
n.6285T>G
n.6265-6T>G
c.6055T>G (p.Tyr2019Asp)
c.6049T>G (p.Tyr2017Asp)
c.6046T>G (p.Tyr2016Asp)
c.5941T>G (p.Tyr1981Asp)
c.5938T>G (p.Tyr1980Asp)
n.6050-6T>G
n.5985T>G
n.6036-6T>G
 gnomAD v4
11g.77208718A>CCA381934132MYO7Ac.5966A>C (p.Tyr1989Ser)
c.3772-5A>C
c.5819A>C (p.Tyr1940Ser)
c.3392A>C (p.Tyr1131Ser)
c.5852A>C (p.Tyr1951Ser)
n.3502A>C
n.880A>C
c.5849A>C (p.Tyr1950Ser)
c.5957A>C (p.Tyr1986Ser)
c.5960A>C (p.Tyr1987Ser)
c.5933A>C (p.Tyr1978Ser)
c.5870A>C (p.Tyr1957Ser)
c.5741A>C (p.Tyr1914Ser)
c.5729A>C (p.Tyr1910Ser)
c.5702A>C (p.Tyr1901Ser)
n.6286A>C
n.6265-5A>C
c.6056A>C (p.Tyr2019Ser)
c.6050A>C (p.Tyr2017Ser)
c.6047A>C (p.Tyr2016Ser)
c.5942A>C (p.Tyr1981Ser)
c.5939A>C (p.Tyr1980Ser)
n.6050-5A>C
n.5986A>C
n.6036-5A>C
11g.77208718A>GCA381934135MYO7Ac.5966A>G (p.Tyr1989Cys)
c.3772-5A>G
c.5819A>G (p.Tyr1940Cys)
c.3392A>G (p.Tyr1131Cys)
c.5852A>G (p.Tyr1951Cys)
n.3502A>G
n.880A>G
c.5849A>G (p.Tyr1950Cys)
c.5957A>G (p.Tyr1986Cys)
c.5960A>G (p.Tyr1987Cys)
c.5933A>G (p.Tyr1978Cys)
c.5870A>G (p.Tyr1957Cys)
c.5741A>G (p.Tyr1914Cys)
c.5729A>G (p.Tyr1910Cys)
c.5702A>G (p.Tyr1901Cys)
n.6286A>G
n.6265-5A>G
c.6056A>G (p.Tyr2019Cys)
c.6050A>G (p.Tyr2017Cys)
c.6047A>G (p.Tyr2016Cys)
c.5942A>G (p.Tyr1981Cys)
c.5939A>G (p.Tyr1980Cys)
n.6050-5A>G
n.5986A>G
n.6036-5A>G
 gnomAD v4
11g.77208718A>TCA381934133MYO7Ac.5966A>T (p.Tyr1989Phe)
c.3772-5A>T
c.5819A>T (p.Tyr1940Phe)
c.3392A>T (p.Tyr1131Phe)
c.5852A>T (p.Tyr1951Phe)
n.3502A>T
n.880A>T
c.5849A>T (p.Tyr1950Phe)
c.5957A>T (p.Tyr1986Phe)
c.5960A>T (p.Tyr1987Phe)
c.5933A>T (p.Tyr1978Phe)
c.5870A>T (p.Tyr1957Phe)
c.5741A>T (p.Tyr1914Phe)
c.5729A>T (p.Tyr1910Phe)
c.5702A>T (p.Tyr1901Phe)
n.6286A>T
n.6265-5A>T
c.6056A>T (p.Tyr2019Phe)
c.6050A>T (p.Tyr2017Phe)
c.6047A>T (p.Tyr2016Phe)
c.5942A>T (p.Tyr1981Phe)
c.5939A>T (p.Tyr1980Phe)
n.6050-5A>T
n.5986A>T
n.6036-5A>T
 gnomAD v4
11g.77208719C>ACA381934137MYO7Ac.5967C>A (p.Tyr1989Ter)
c.3772-4C>A
c.5820C>A (p.Tyr1940Ter)
c.3393C>A (p.Tyr1131Ter)
c.5853C>A (p.Tyr1951Ter)
n.3503C>A
n.881C>A
c.5850C>A (p.Tyr1950Ter)
c.5958C>A (p.Tyr1986Ter)
c.5961C>A (p.Tyr1987Ter)
c.5934C>A (p.Tyr1978Ter)
c.5871C>A (p.Tyr1957Ter)
c.5742C>A (p.Tyr1914Ter)
c.5730C>A (p.Tyr1910Ter)
c.5703C>A (p.Tyr1901Ter)
n.6287C>A
n.6265-4C>A
c.6057C>A (p.Tyr2019Ter)
c.6051C>A (p.Tyr2017Ter)
c.6048C>A (p.Tyr2016Ter)
c.5943C>A (p.Tyr1981Ter)
c.5940C>A (p.Tyr1980Ter)
n.6050-4C>A
n.5987C>A
n.6036-4C>A
 ClinVar dbSNP gnomAD v4
11g.77208719C=CA1984128574MYO7Ac.5967C= (p.Tyr1989=)
c.3772-4C=
c.5820C= (p.Tyr1940=)
c.3393C= (p.Tyr1131=)
c.5853C= (p.Tyr1951=)
n.3503C=
n.881C=
c.5850C= (p.Tyr1950=)
c.5958C= (p.Tyr1986=)
c.5961C= (p.Tyr1987=)
c.5934C= (p.Tyr1978=)
c.5871C= (p.Tyr1957=)
c.5742C= (p.Tyr1914=)
c.5730C= (p.Tyr1910=)
c.5703C= (p.Tyr1901=)
n.6287C=
n.6265-4C=
c.6057C= (p.Tyr2019=)
c.6051C= (p.Tyr2017=)
c.6048C= (p.Tyr2016=)
c.5943C= (p.Tyr1981=)
c.5940C= (p.Tyr1980=)
n.6050-4C=
n.5987C=
n.6036-4C=
11g.77208719C>GCA381934139MYO7Ac.5967C>G (p.Tyr1989Ter)
c.3772-4C>G
c.5820C>G (p.Tyr1940Ter)
c.3393C>G (p.Tyr1131Ter)
c.5853C>G (p.Tyr1951Ter)
n.3503C>G
n.881C>G
c.5850C>G (p.Tyr1950Ter)
c.5958C>G (p.Tyr1986Ter)
c.5961C>G (p.Tyr1987Ter)
c.5934C>G (p.Tyr1978Ter)
c.5871C>G (p.Tyr1957Ter)
c.5742C>G (p.Tyr1914Ter)
c.5730C>G (p.Tyr1910Ter)
c.5703C>G (p.Tyr1901Ter)
n.6287C>G
n.6265-4C>G
c.6057C>G (p.Tyr2019Ter)
c.6051C>G (p.Tyr2017Ter)
c.6048C>G (p.Tyr2016Ter)
c.5943C>G (p.Tyr1981Ter)
c.5940C>G (p.Tyr1980Ter)
n.6050-4C>G
n.5987C>G
n.6036-4C>G
11g.77208719C>TCA475791673MYO7Ac.5967C>T (p.Tyr1989=)
c.3772-4C>T
c.5820C>T (p.Tyr1940=)
c.3393C>T (p.Tyr1131=)
c.5853C>T (p.Tyr1951=)
n.3503C>T
n.881C>T
c.5850C>T (p.Tyr1950=)
c.5958C>T (p.Tyr1986=)
c.5961C>T (p.Tyr1987=)
c.5934C>T (p.Tyr1978=)
c.5871C>T (p.Tyr1957=)
c.5742C>T (p.Tyr1914=)
c.5730C>T (p.Tyr1910=)
c.5703C>T (p.Tyr1901=)
n.6287C>T
n.6265-4C>T
c.6057C>T (p.Tyr2019=)
c.6051C>T (p.Tyr2017=)
c.6048C>T (p.Tyr2016=)
c.5943C>T (p.Tyr1981=)
c.5940C>T (p.Tyr1980=)
n.6050-4C>T
n.5987C>T
n.6036-4C>T
 gnomAD v4
11g.77208720C>ACA381934140MYO7Ac.5968C>A (p.Gln1990Lys)
c.3772-3C>A
c.5821C>A (p.Gln1941Lys)
c.3394C>A (p.Gln1132Lys)
c.5854C>A (p.Gln1952Lys)
n.3504C>A
n.882C>A
c.5851C>A (p.Gln1951Lys)
c.5959C>A (p.Gln1987Lys)
c.5962C>A (p.Gln1988Lys)
c.5935C>A (p.Gln1979Lys)
c.5872C>A (p.Gln1958Lys)
c.5743C>A (p.Gln1915Lys)
c.5731C>A (p.Gln1911Lys)
c.5704C>A (p.Gln1902Lys)
n.6288C>A
n.6265-3C>A
c.6058C>A (p.Gln2020Lys)
c.6052C>A (p.Gln2018Lys)
c.6049C>A (p.Gln2017Lys)
c.5944C>A (p.Gln1982Lys)
c.5941C>A (p.Gln1981Lys)
n.6050-3C>A
n.5988C>A
n.6036-3C>A
 gnomAD v4
11g.77208720C=CA1984128575MYO7Ac.5968C= (p.Gln1990=)
c.3772-3C=
c.5821C= (p.Gln1941=)
c.3394C= (p.Gln1132=)
c.5854C= (p.Gln1952=)
n.3504C=
n.882C=
c.5851C= (p.Gln1951=)
c.5959C= (p.Gln1987=)
c.5962C= (p.Gln1988=)
c.5935C= (p.Gln1979=)
c.5872C= (p.Gln1958=)
c.5743C= (p.Gln1915=)
c.5731C= (p.Gln1911=)
c.5704C= (p.Gln1902=)
n.6288C=
n.6265-3C=
c.6058C= (p.Gln2020=)
c.6052C= (p.Gln2018=)
c.6049C= (p.Gln2017=)
c.5944C= (p.Gln1982=)
c.5941C= (p.Gln1981=)
n.6050-3C=
n.5988C=
n.6036-3C=
11g.77208720C>GCA381934141MYO7Ac.5968C>G (p.Gln1990Glu)
c.3772-3C>G
c.5821C>G (p.Gln1941Glu)
c.3394C>G (p.Gln1132Glu)
c.5854C>G (p.Gln1952Glu)
n.3504C>G
n.882C>G
c.5851C>G (p.Gln1951Glu)
c.5959C>G (p.Gln1987Glu)
c.5962C>G (p.Gln1988Glu)
c.5935C>G (p.Gln1979Glu)
c.5872C>G (p.Gln1958Glu)
c.5743C>G (p.Gln1915Glu)
c.5731C>G (p.Gln1911Glu)
c.5704C>G (p.Gln1902Glu)
n.6288C>G
n.6265-3C>G
c.6058C>G (p.Gln2020Glu)
c.6052C>G (p.Gln2018Glu)
c.6049C>G (p.Gln2017Glu)
c.5944C>G (p.Gln1982Glu)
c.5941C>G (p.Gln1981Glu)
n.6050-3C>G
n.5988C>G
n.6036-3C>G
11g.77208720C>TCA278748MYO7Ac.5968C>T (p.Gln1990Ter)
c.3772-3C>T
c.5821C>T (p.Gln1941Ter)
c.3394C>T (p.Gln1132Ter)
c.5854C>T (p.Gln1952Ter)
n.3504C>T
n.882C>T
c.5851C>T (p.Gln1951Ter)
c.5959C>T (p.Gln1987Ter)
c.5962C>T (p.Gln1988Ter)
c.5935C>T (p.Gln1979Ter)
c.5872C>T (p.Gln1958Ter)
c.5743C>T (p.Gln1915Ter)
c.5731C>T (p.Gln1911Ter)
c.5704C>T (p.Gln1902Ter)
n.6288C>T
n.6265-3C>T
c.6058C>T (p.Gln2020Ter)
c.6052C>T (p.Gln2018Ter)
c.6049C>T (p.Gln2017Ter)
c.5944C>T (p.Gln1982Ter)
c.5941C>T (p.Gln1981Ter)
n.6050-3C>T
n.5988C>T
n.6036-3C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208721A=CA1984128576MYO7Ac.5969A= (p.Gln1990=)
c.3772-2A=
c.5822A= (p.Gln1941=)
c.3395A= (p.Gln1132=)
c.5855A= (p.Gln1952=)
n.3505A=
n.883A=
c.5852A= (p.Gln1951=)
c.5960A= (p.Gln1987=)
c.5963A= (p.Gln1988=)
c.5936A= (p.Gln1979=)
c.5873A= (p.Gln1958=)
c.5744A= (p.Gln1915=)
c.5732A= (p.Gln1911=)
c.5705A= (p.Gln1902=)
n.6289A=
n.6265-2A=
c.6059A= (p.Gln2020=)
c.6053A= (p.Gln2018=)
c.6050A= (p.Gln2017=)
c.5945A= (p.Gln1982=)
c.5942A= (p.Gln1981=)
n.6050-2A=
n.5989A=
n.6036-2A=
11g.77208721A>CCA381934144MYO7Ac.5969A>C (p.Gln1990Pro)
c.3772-2A>C
c.5822A>C (p.Gln1941Pro)
c.3395A>C (p.Gln1132Pro)
c.5855A>C (p.Gln1952Pro)
n.3505A>C
n.883A>C
c.5852A>C (p.Gln1951Pro)
c.5960A>C (p.Gln1987Pro)
c.5963A>C (p.Gln1988Pro)
c.5936A>C (p.Gln1979Pro)
c.5873A>C (p.Gln1958Pro)
c.5744A>C (p.Gln1915Pro)
c.5732A>C (p.Gln1911Pro)
c.5705A>C (p.Gln1902Pro)
n.6289A>C
n.6265-2A>C
c.6059A>C (p.Gln2020Pro)
c.6053A>C (p.Gln2018Pro)
c.6050A>C (p.Gln2017Pro)
c.5945A>C (p.Gln1982Pro)
c.5942A>C (p.Gln1981Pro)
n.6050-2A>C
n.5989A>C
n.6036-2A>C
 gnomAD v4
11g.77208721A>GCA6198893MYO7Ac.5969A>G (p.Gln1990Arg)
c.3772-2A>G
c.5822A>G (p.Gln1941Arg)
c.3395A>G (p.Gln1132Arg)
c.5855A>G (p.Gln1952Arg)
n.3505A>G
n.883A>G
c.5852A>G (p.Gln1951Arg)
c.5960A>G (p.Gln1987Arg)
c.5963A>G (p.Gln1988Arg)
c.5936A>G (p.Gln1979Arg)
c.5873A>G (p.Gln1958Arg)
c.5744A>G (p.Gln1915Arg)
c.5732A>G (p.Gln1911Arg)
c.5705A>G (p.Gln1902Arg)
n.6289A>G
n.6265-2A>G
c.6059A>G (p.Gln2020Arg)
c.6053A>G (p.Gln2018Arg)
c.6050A>G (p.Gln2017Arg)
c.5945A>G (p.Gln1982Arg)
c.5942A>G (p.Gln1981Arg)
n.6050-2A>G
n.5989A>G
n.6036-2A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208721A>TCA381934147MYO7Ac.5969A>T (p.Gln1990Leu)
c.3772-2A>T
c.5822A>T (p.Gln1941Leu)
c.3395A>T (p.Gln1132Leu)
c.5855A>T (p.Gln1952Leu)
n.3505A>T
n.883A>T
c.5852A>T (p.Gln1951Leu)
c.5960A>T (p.Gln1987Leu)
c.5963A>T (p.Gln1988Leu)
c.5936A>T (p.Gln1979Leu)
c.5873A>T (p.Gln1958Leu)
c.5744A>T (p.Gln1915Leu)
c.5732A>T (p.Gln1911Leu)
c.5705A>T (p.Gln1902Leu)
n.6289A>T
n.6265-2A>T
c.6059A>T (p.Gln2020Leu)
c.6053A>T (p.Gln2018Leu)
c.6050A>T (p.Gln2017Leu)
c.5945A>T (p.Gln1982Leu)
c.5942A>T (p.Gln1981Leu)
n.6050-2A>T
n.5989A>T
n.6036-2A>T
 gnomAD v4
11g.77208722G>ACA475791674MYO7Ac.5970G>A (p.Gln1990=)
c.3772-1G>A
c.5823G>A (p.Gln1941=)
c.3396G>A (p.Gln1132=)
c.5856G>A (p.Gln1952=)
n.3506G>A
n.884G>A
c.5853G>A (p.Gln1951=)
c.5961G>A (p.Gln1987=)
c.5964G>A (p.Gln1988=)
c.5937G>A (p.Gln1979=)
c.5874G>A (p.Gln1958=)
c.5745G>A (p.Gln1915=)
c.5733G>A (p.Gln1911=)
c.5706G>A (p.Gln1902=)
n.6290G>A
n.6265-1G>A
c.6060G>A (p.Gln2020=)
c.6054G>A (p.Gln2018=)
c.6051G>A (p.Gln2017=)
c.5946G>A (p.Gln1982=)
c.5943G>A (p.Gln1981=)
n.6050-1G>A
n.5990G>A
n.6036-1G>A
 gnomAD v4
11g.77208722G>CCA381934149MYO7Ac.5970G>C (p.Gln1990His)
c.3772-1G>C
c.5823G>C (p.Gln1941His)
c.3396G>C (p.Gln1132His)
c.5856G>C (p.Gln1952His)
n.3506G>C
n.884G>C
c.5853G>C (p.Gln1951His)
c.5961G>C (p.Gln1987His)
c.5964G>C (p.Gln1988His)
c.5937G>C (p.Gln1979His)
c.5874G>C (p.Gln1958His)
c.5745G>C (p.Gln1915His)
c.5733G>C (p.Gln1911His)
c.5706G>C (p.Gln1902His)
n.6290G>C
n.6265-1G>C
c.6060G>C (p.Gln2020His)
c.6054G>C (p.Gln2018His)
c.6051G>C (p.Gln2017His)
c.5946G>C (p.Gln1982His)
c.5943G>C (p.Gln1981His)
n.6050-1G>C
n.5990G>C
n.6036-1G>C
11g.77208722G>TCA381934150MYO7Ac.5970G>T (p.Gln1990His)
c.3772-1G>T
c.5823G>T (p.Gln1941His)
c.3396G>T (p.Gln1132His)
c.5856G>T (p.Gln1952His)
n.3506G>T
n.884G>T
c.5853G>T (p.Gln1951His)
c.5961G>T (p.Gln1987His)
c.5964G>T (p.Gln1988His)
c.5937G>T (p.Gln1979His)
c.5874G>T (p.Gln1958His)
c.5745G>T (p.Gln1915His)
c.5733G>T (p.Gln1911His)
c.5706G>T (p.Gln1902His)
n.6290G>T
n.6265-1G>T
c.6060G>T (p.Gln2020His)
c.6054G>T (p.Gln2018His)
c.6051G>T (p.Gln2017His)
c.5946G>T (p.Gln1982His)
c.5943G>T (p.Gln1981His)
n.6050-1G>T
n.5990G>T
n.6036-1G>T
 gnomAD v4
11g.77208723G>ACA381934154MYO7Ac.5971G>A (p.Val1991Met)
c.3772G>A
c.5824G>A (p.Val1942Met)
c.3397G>A (p.Val1133Met)
c.5857G>A (p.Val1953Met)
n.3507G>A
n.885G>A
c.5854G>A (p.Val1952Met)
c.5962G>A (p.Val1988Met)
c.5965G>A (p.Val1989Met)
c.5938G>A (p.Val1980Met)
c.5875G>A (p.Val1959Met)
c.5746G>A (p.Val1916Met)
c.5734G>A (p.Val1912Met)
c.5707G>A (p.Val1903Met)
n.6291G>A
n.6265G>A
c.6061G>A (p.Val2021Met)
c.6055G>A (p.Val2019Met)
c.6052G>A (p.Val2018Met)
c.5947G>A (p.Val1983Met)
c.5944G>A (p.Val1982Met)
n.6050G>A
n.5991G>A
n.6036G>A
 gnomAD v4
11g.77208723G>CCA381934155MYO7Ac.5971G>C (p.Val1991Leu)
c.3772G>C
c.5824G>C (p.Val1942Leu)
c.3397G>C (p.Val1133Leu)
c.5857G>C (p.Val1953Leu)
n.3507G>C
n.885G>C
c.5854G>C (p.Val1952Leu)
c.5962G>C (p.Val1988Leu)
c.5965G>C (p.Val1989Leu)
c.5938G>C (p.Val1980Leu)
c.5875G>C (p.Val1959Leu)
c.5746G>C (p.Val1916Leu)
c.5734G>C (p.Val1912Leu)
c.5707G>C (p.Val1903Leu)
n.6291G>C
n.6265G>C
c.6061G>C (p.Val2021Leu)
c.6055G>C (p.Val2019Leu)
c.6052G>C (p.Val2018Leu)
c.5947G>C (p.Val1983Leu)
c.5944G>C (p.Val1982Leu)
n.6050G>C
n.5991G>C
n.6036G>C
11g.77208723G=CA1984128577MYO7Ac.5971G= (p.Val1991=)
c.3772G=
c.5824G= (p.Val1942=)
c.3397G= (p.Val1133=)
c.5857G= (p.Val1953=)
n.3507G=
n.885G=
c.5854G= (p.Val1952=)
c.5962G= (p.Val1988=)
c.5965G= (p.Val1989=)
c.5938G= (p.Val1980=)
c.5875G= (p.Val1959=)
c.5746G= (p.Val1916=)
c.5734G= (p.Val1912=)
c.5707G= (p.Val1903=)
n.6291G=
n.6265G=
c.6061G= (p.Val2021=)
c.6055G= (p.Val2019=)
c.6052G= (p.Val2018=)
c.5947G= (p.Val1983=)
c.5944G= (p.Val1982=)
n.6050G=
n.5991G=
n.6036G=
11g.77208723G>TCA381934153MYO7Ac.5971G>T (p.Val1991Leu)
c.3772G>T
c.5824G>T (p.Val1942Leu)
c.3397G>T (p.Val1133Leu)
c.5857G>T (p.Val1953Leu)
n.3507G>T
n.885G>T
c.5854G>T (p.Val1952Leu)
c.5962G>T (p.Val1988Leu)
c.5965G>T (p.Val1989Leu)
c.5938G>T (p.Val1980Leu)
c.5875G>T (p.Val1959Leu)
c.5746G>T (p.Val1916Leu)
c.5734G>T (p.Val1912Leu)
c.5707G>T (p.Val1903Leu)
n.6291G>T
n.6265G>T
c.6061G>T (p.Val2021Leu)
c.6055G>T (p.Val2019Leu)
c.6052G>T (p.Val2018Leu)
c.5947G>T (p.Val1983Leu)
c.5944G>T (p.Val1982Leu)
n.6050G>T
n.5991G>T
n.6036G>T
 dbSNP gnomAD v2
11g.77208724T>ACA381934160MYO7Ac.5972T>A (p.Val1991Glu)
c.3773T>A
c.5825T>A (p.Val1942Glu)
c.3398T>A (p.Val1133Glu)
c.5858T>A (p.Val1953Glu)
n.3508T>A
n.886T>A
c.5855T>A (p.Val1952Glu)
c.5963T>A (p.Val1988Glu)
c.5966T>A (p.Val1989Glu)
c.5939T>A (p.Val1980Glu)
c.5876T>A (p.Val1959Glu)
c.5747T>A (p.Val1916Glu)
c.5735T>A (p.Val1912Glu)
c.5708T>A (p.Val1903Glu)
n.6292T>A
n.6266T>A
c.6062T>A (p.Val2021Glu)
c.6056T>A (p.Val2019Glu)
c.6053T>A (p.Val2018Glu)
c.5948T>A (p.Val1983Glu)
c.5945T>A (p.Val1982Glu)
n.6051T>A
n.5992T>A
n.6037T>A
11g.77208724T>CCA381934157MYO7Ac.5972T>C (p.Val1991Ala)
c.3773T>C
c.5825T>C (p.Val1942Ala)
c.3398T>C (p.Val1133Ala)
c.5858T>C (p.Val1953Ala)
n.3508T>C
n.886T>C
c.5855T>C (p.Val1952Ala)
c.5963T>C (p.Val1988Ala)
c.5966T>C (p.Val1989Ala)
c.5939T>C (p.Val1980Ala)
c.5876T>C (p.Val1959Ala)
c.5747T>C (p.Val1916Ala)
c.5735T>C (p.Val1912Ala)
c.5708T>C (p.Val1903Ala)
n.6292T>C
n.6266T>C
c.6062T>C (p.Val2021Ala)
c.6056T>C (p.Val2019Ala)
c.6053T>C (p.Val2018Ala)
c.5948T>C (p.Val1983Ala)
c.5945T>C (p.Val1982Ala)
n.6051T>C
n.5992T>C
n.6037T>C
 gnomAD v4
11g.77208724T>GCA381934159MYO7Ac.5972T>G (p.Val1991Gly)
c.3773T>G
c.5825T>G (p.Val1942Gly)
c.3398T>G (p.Val1133Gly)
c.5858T>G (p.Val1953Gly)
n.3508T>G
n.886T>G
c.5855T>G (p.Val1952Gly)
c.5963T>G (p.Val1988Gly)
c.5966T>G (p.Val1989Gly)
c.5939T>G (p.Val1980Gly)
c.5876T>G (p.Val1959Gly)
c.5747T>G (p.Val1916Gly)
c.5735T>G (p.Val1912Gly)
c.5708T>G (p.Val1903Gly)
n.6292T>G
n.6266T>G
c.6062T>G (p.Val2021Gly)
c.6056T>G (p.Val2019Gly)
c.6053T>G (p.Val2018Gly)
c.5948T>G (p.Val1983Gly)
c.5945T>G (p.Val1982Gly)
n.6051T>G
n.5992T>G
n.6037T>G
11g.77208725G>ACA475791675MYO7Ac.5973G>A (p.Val1991=)
c.3774G>A
c.5826G>A (p.Val1942=)
c.3399G>A (p.Val1133=)
c.5859G>A (p.Val1953=)
n.3509G>A
n.887G>A
c.5856G>A (p.Val1952=)
c.5964G>A (p.Val1988=)
c.5967G>A (p.Val1989=)
c.5940G>A (p.Val1980=)
c.5877G>A (p.Val1959=)
c.5748G>A (p.Val1916=)
c.5736G>A (p.Val1912=)
c.5709G>A (p.Val1903=)
n.6293G>A
n.6267G>A
c.6063G>A (p.Val2021=)
c.6057G>A (p.Val2019=)
c.6054G>A (p.Val2018=)
c.5949G>A (p.Val1983=)
c.5946G>A (p.Val1982=)
n.6052G>A
n.5993G>A
n.6038G>A
 ClinVar gnomAD v4
11g.77208725G>CCA475791677MYO7Ac.5973G>C (p.Val1991=)
c.3774G>C
c.5826G>C (p.Val1942=)
c.3399G>C (p.Val1133=)
c.5859G>C (p.Val1953=)
n.3509G>C
n.887G>C
c.5856G>C (p.Val1952=)
c.5964G>C (p.Val1988=)
c.5967G>C (p.Val1989=)
c.5940G>C (p.Val1980=)
c.5877G>C (p.Val1959=)
c.5748G>C (p.Val1916=)
c.5736G>C (p.Val1912=)
c.5709G>C (p.Val1903=)
n.6293G>C
n.6267G>C
c.6063G>C (p.Val2021=)
c.6057G>C (p.Val2019=)
c.6054G>C (p.Val2018=)
c.5949G>C (p.Val1983=)
c.5946G>C (p.Val1982=)
n.6052G>C
n.5993G>C
n.6038G>C
 gnomAD v4
11g.77208725G>TCA475791676MYO7Ac.5973G>T (p.Val1991=)
c.3774G>T
c.5826G>T (p.Val1942=)
c.3399G>T (p.Val1133=)
c.5859G>T (p.Val1953=)
n.3509G>T
n.887G>T
c.5856G>T (p.Val1952=)
c.5964G>T (p.Val1988=)
c.5967G>T (p.Val1989=)
c.5940G>T (p.Val1980=)
c.5877G>T (p.Val1959=)
c.5748G>T (p.Val1916=)
c.5736G>T (p.Val1912=)
c.5709G>T (p.Val1903=)
n.6293G>T
n.6267G>T
c.6063G>T (p.Val2021=)
c.6057G>T (p.Val2019=)
c.6054G>T (p.Val2018=)
c.5949G>T (p.Val1983=)
c.5946G>T (p.Val1982=)
n.6052G>T
n.5993G>T
n.6038G>T
 gnomAD v4
11g.77208726T>ACA6198894MYO7Ac.5974T>A (p.Phe1992Ile)
c.3775T>A
c.5827T>A (p.Phe1943Ile)
c.3400T>A (p.Phe1134Ile)
c.5860T>A (p.Phe1954Ile)
n.3510T>A
n.888T>A
c.5857T>A (p.Phe1953Ile)
c.5965T>A (p.Phe1989Ile)
c.5968T>A (p.Phe1990Ile)
c.5941T>A (p.Phe1981Ile)
c.5878T>A (p.Phe1960Ile)
c.5749T>A (p.Phe1917Ile)
c.5737T>A (p.Phe1913Ile)
c.5710T>A (p.Phe1904Ile)
n.6294T>A
n.6268T>A
c.6064T>A (p.Phe2022Ile)
c.6058T>A (p.Phe2020Ile)
c.6055T>A (p.Phe2019Ile)
c.5950T>A (p.Phe1984Ile)
c.5947T>A (p.Phe1983Ile)
n.6053T>A
n.5994T>A
n.6039T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208726T>CCA381934164MYO7Ac.5974T>C (p.Phe1992Leu)
c.3775T>C
c.5827T>C (p.Phe1943Leu)
c.3400T>C (p.Phe1134Leu)
c.5860T>C (p.Phe1954Leu)
n.3510T>C
n.888T>C
c.5857T>C (p.Phe1953Leu)
c.5965T>C (p.Phe1989Leu)
c.5968T>C (p.Phe1990Leu)
c.5941T>C (p.Phe1981Leu)
c.5878T>C (p.Phe1960Leu)
c.5749T>C (p.Phe1917Leu)
c.5737T>C (p.Phe1913Leu)
c.5710T>C (p.Phe1904Leu)
n.6294T>C
n.6268T>C
c.6064T>C (p.Phe2022Leu)
c.6058T>C (p.Phe2020Leu)
c.6055T>C (p.Phe2019Leu)
c.5950T>C (p.Phe1984Leu)
c.5947T>C (p.Phe1983Leu)
n.6053T>C
n.5994T>C
n.6039T>C
11g.77208726T>GCA381934165MYO7Ac.5974T>G (p.Phe1992Val)
c.3775T>G
c.5827T>G (p.Phe1943Val)
c.3400T>G (p.Phe1134Val)
c.5860T>G (p.Phe1954Val)
n.3510T>G
n.888T>G
c.5857T>G (p.Phe1953Val)
c.5965T>G (p.Phe1989Val)
c.5968T>G (p.Phe1990Val)
c.5941T>G (p.Phe1981Val)
c.5878T>G (p.Phe1960Val)
c.5749T>G (p.Phe1917Val)
c.5737T>G (p.Phe1913Val)
c.5710T>G (p.Phe1904Val)
n.6294T>G
n.6268T>G
c.6064T>G (p.Phe2022Val)
c.6058T>G (p.Phe2020Val)
c.6055T>G (p.Phe2019Val)
c.5950T>G (p.Phe1984Val)
c.5947T>G (p.Phe1983Val)
n.6053T>G
n.5994T>G
n.6039T>G
11g.77208726T=CA1984128578MYO7Ac.5974T= (p.Phe1992=)
c.3775T=
c.5827T= (p.Phe1943=)
c.3400T= (p.Phe1134=)
c.5860T= (p.Phe1954=)
n.3510T=
n.888T=
c.5857T= (p.Phe1953=)
c.5965T= (p.Phe1989=)
c.5968T= (p.Phe1990=)
c.5941T= (p.Phe1981=)
c.5878T= (p.Phe1960=)
c.5749T= (p.Phe1917=)
c.5737T= (p.Phe1913=)
c.5710T= (p.Phe1904=)
n.6294T=
n.6268T=
c.6064T= (p.Phe2022=)
c.6058T= (p.Phe2020=)
c.6055T= (p.Phe2019=)
c.5950T= (p.Phe1984=)
c.5947T= (p.Phe1983=)
n.6053T=
n.5994T=
n.6039T=
11g.77208727delCA2574931875MYO7Ac.5975del (p.Phe1992SerfsTer3)
c.3776del
c.5828del (p.Phe1943SerfsTer3)
c.3401del (p.Phe1134SerfsTer3)
c.5861del (p.Phe1954SerfsTer3)
n.3511del
n.889del
c.5858del (p.Phe1953SerfsTer3)
c.5966del (p.Phe1989SerfsTer3)
c.5969del (p.Phe1990SerfsTer3)
c.5942del (p.Phe1981SerfsTer3)
c.5879del (p.Phe1960SerfsTer3)
c.5750del (p.Phe1917SerfsTer3)
c.5738del (p.Phe1913SerfsTer3)
c.5711del (p.Phe1904SerfsTer3)
n.6295del
n.6269del
c.6065del (p.Phe2022SerfsTer3)
c.6059del (p.Phe2020SerfsTer3)
c.6056del (p.Phe2019SerfsTer3)
c.5951del (p.Phe1984SerfsTer3)
c.5948del (p.Phe1983SerfsTer3)
n.6054del
n.5995del
n.6040del
11g.77208727T>ACA381934170MYO7Ac.5975T>A (p.Phe1992Tyr)
c.3776T>A
c.5828T>A (p.Phe1943Tyr)
c.3401T>A (p.Phe1134Tyr)
c.5861T>A (p.Phe1954Tyr)
n.3511T>A
n.889T>A
c.5858T>A (p.Phe1953Tyr)
c.5966T>A (p.Phe1989Tyr)
c.5969T>A (p.Phe1990Tyr)
c.5942T>A (p.Phe1981Tyr)
c.5879T>A (p.Phe1960Tyr)
c.5750T>A (p.Phe1917Tyr)
c.5738T>A (p.Phe1913Tyr)
c.5711T>A (p.Phe1904Tyr)
n.6295T>A
n.6269T>A
c.6065T>A (p.Phe2022Tyr)
c.6059T>A (p.Phe2020Tyr)
c.6056T>A (p.Phe2019Tyr)
c.5951T>A (p.Phe1984Tyr)
c.5948T>A (p.Phe1983Tyr)
n.6054T>A
n.5995T>A
n.6040T>A
11g.77208727T>CCA381934169MYO7Ac.5975T>C (p.Phe1992Ser)
c.3776T>C
c.5828T>C (p.Phe1943Ser)
c.3401T>C (p.Phe1134Ser)
c.5861T>C (p.Phe1954Ser)
n.3511T>C
n.889T>C
c.5858T>C (p.Phe1953Ser)
c.5966T>C (p.Phe1989Ser)
c.5969T>C (p.Phe1990Ser)
c.5942T>C (p.Phe1981Ser)
c.5879T>C (p.Phe1960Ser)
c.5750T>C (p.Phe1917Ser)
c.5738T>C (p.Phe1913Ser)
c.5711T>C (p.Phe1904Ser)
n.6295T>C
n.6269T>C
c.6065T>C (p.Phe2022Ser)
c.6059T>C (p.Phe2020Ser)
c.6056T>C (p.Phe2019Ser)
c.5951T>C (p.Phe1984Ser)
c.5948T>C (p.Phe1983Ser)
n.6054T>C
n.5995T>C
n.6040T>C
11g.77208727T>GCA381934167MYO7Ac.5975T>G (p.Phe1992Cys)
c.3776T>G
c.5828T>G (p.Phe1943Cys)
c.3401T>G (p.Phe1134Cys)
c.5861T>G (p.Phe1954Cys)
n.3511T>G
n.889T>G
c.5858T>G (p.Phe1953Cys)
c.5966T>G (p.Phe1989Cys)
c.5969T>G (p.Phe1990Cys)
c.5942T>G (p.Phe1981Cys)
c.5879T>G (p.Phe1960Cys)
c.5750T>G (p.Phe1917Cys)
c.5738T>G (p.Phe1913Cys)
c.5711T>G (p.Phe1904Cys)
n.6295T>G
n.6269T>G
c.6065T>G (p.Phe2022Cys)
c.6059T>G (p.Phe2020Cys)
c.6056T>G (p.Phe2019Cys)
c.5951T>G (p.Phe1984Cys)
c.5948T>G (p.Phe1983Cys)
n.6054T>G
n.5995T>G
n.6040T>G
11g.77208728C>ACA381934173MYO7Ac.5976C>A (p.Phe1992Leu)
c.3777C>A
c.5829C>A (p.Phe1943Leu)
c.3402C>A (p.Phe1134Leu)
c.5862C>A (p.Phe1954Leu)
n.3512C>A
n.890C>A
c.5859C>A (p.Phe1953Leu)
c.5967C>A (p.Phe1989Leu)
c.5970C>A (p.Phe1990Leu)
c.5943C>A (p.Phe1981Leu)
c.5880C>A (p.Phe1960Leu)
c.5751C>A (p.Phe1917Leu)
c.5739C>A (p.Phe1913Leu)
c.5712C>A (p.Phe1904Leu)
n.6296C>A
n.6270C>A
c.6066C>A (p.Phe2022Leu)
c.6060C>A (p.Phe2020Leu)
c.6057C>A (p.Phe2019Leu)
c.5952C>A (p.Phe1984Leu)
c.5949C>A (p.Phe1983Leu)
n.6055C>A
n.5996C>A
n.6041C>A
 gnomAD v4
11g.77208728C=CA1984128579MYO7Ac.5976C= (p.Phe1992=)
c.3777C=
c.5829C= (p.Phe1943=)
c.3402C= (p.Phe1134=)
c.5862C= (p.Phe1954=)
n.3512C=
n.890C=
c.5859C= (p.Phe1953=)
c.5967C= (p.Phe1989=)
c.5970C= (p.Phe1990=)
c.5943C= (p.Phe1981=)
c.5880C= (p.Phe1960=)
c.5751C= (p.Phe1917=)
c.5739C= (p.Phe1913=)
c.5712C= (p.Phe1904=)
n.6296C=
n.6270C=
c.6066C= (p.Phe2022=)
c.6060C= (p.Phe2020=)
c.6057C= (p.Phe2019=)
c.5952C= (p.Phe1984=)
c.5949C= (p.Phe1983=)
n.6055C=
n.5996C=
n.6041C=
11g.77208728C>GCA381934184MYO7Ac.5976C>G (p.Phe1992Leu)
c.3777C>G
c.5829C>G (p.Phe1943Leu)
c.3402C>G (p.Phe1134Leu)
c.5862C>G (p.Phe1954Leu)
n.3512C>G
n.890C>G
c.5859C>G (p.Phe1953Leu)
c.5967C>G (p.Phe1989Leu)
c.5970C>G (p.Phe1990Leu)
c.5943C>G (p.Phe1981Leu)
c.5880C>G (p.Phe1960Leu)
c.5751C>G (p.Phe1917Leu)
c.5739C>G (p.Phe1913Leu)
c.5712C>G (p.Phe1904Leu)
n.6296C>G
n.6270C>G
c.6066C>G (p.Phe2022Leu)
c.6060C>G (p.Phe2020Leu)
c.6057C>G (p.Phe2019Leu)
c.5952C>G (p.Phe1984Leu)
c.5949C>G (p.Phe1983Leu)
n.6055C>G
n.5996C>G
n.6041C>G
11g.77208728C>TCA6198895MYO7Ac.5976C>T (p.Phe1992=)
c.3777C>T
c.5829C>T (p.Phe1943=)
c.3402C>T (p.Phe1134=)
c.5862C>T (p.Phe1954=)
n.3512C>T
n.890C>T
c.5859C>T (p.Phe1953=)
c.5967C>T (p.Phe1989=)
c.5970C>T (p.Phe1990=)
c.5943C>T (p.Phe1981=)
c.5880C>T (p.Phe1960=)
c.5751C>T (p.Phe1917=)
c.5739C>T (p.Phe1913=)
c.5712C>T (p.Phe1904=)
n.6296C>T
n.6270C>T
c.6066C>T (p.Phe2022=)
c.6060C>T (p.Phe2020=)
c.6057C>T (p.Phe2019=)
c.5952C>T (p.Phe1984=)
c.5949C>T (p.Phe1983=)
n.6055C>T
n.5996C>T
n.6041C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208729T>ACA381934193MYO7Ac.5977T>A (p.Phe1993Ile)
c.3778T>A
c.5830T>A (p.Phe1944Ile)
c.3403T>A (p.Phe1135Ile)
c.5863T>A (p.Phe1955Ile)
n.3513T>A
n.891T>A
c.5860T>A (p.Phe1954Ile)
c.5968T>A (p.Phe1990Ile)
c.5971T>A (p.Phe1991Ile)
c.5944T>A (p.Phe1982Ile)
c.5881T>A (p.Phe1961Ile)
c.5752T>A (p.Phe1918Ile)
c.5740T>A (p.Phe1914Ile)
c.5713T>A (p.Phe1905Ile)
n.6297T>A
n.6271T>A
c.6067T>A (p.Phe2023Ile)
c.6061T>A (p.Phe2021Ile)
c.6058T>A (p.Phe2020Ile)
c.5953T>A (p.Phe1985Ile)
c.5950T>A (p.Phe1984Ile)
n.6056T>A
n.5997T>A
n.6042T>A
 gnomAD v4
11g.77208729T>CCA381934203MYO7Ac.5977T>C (p.Phe1993Leu)
c.3778T>C
c.5830T>C (p.Phe1944Leu)
c.3403T>C (p.Phe1135Leu)
c.5863T>C (p.Phe1955Leu)
n.3513T>C
n.891T>C
c.5860T>C (p.Phe1954Leu)
c.5968T>C (p.Phe1990Leu)
c.5971T>C (p.Phe1991Leu)
c.5944T>C (p.Phe1982Leu)
c.5881T>C (p.Phe1961Leu)
c.5752T>C (p.Phe1918Leu)
c.5740T>C (p.Phe1914Leu)
c.5713T>C (p.Phe1905Leu)
n.6297T>C
n.6271T>C
c.6067T>C (p.Phe2023Leu)
c.6061T>C (p.Phe2021Leu)
c.6058T>C (p.Phe2020Leu)
c.5953T>C (p.Phe1985Leu)
c.5950T>C (p.Phe1984Leu)
n.6056T>C
n.5997T>C
n.6042T>C
11g.77208729T>GCA381934204MYO7Ac.5977T>G (p.Phe1993Val)
c.3778T>G
c.5830T>G (p.Phe1944Val)
c.3403T>G (p.Phe1135Val)
c.5863T>G (p.Phe1955Val)
n.3513T>G
n.891T>G
c.5860T>G (p.Phe1954Val)
c.5968T>G (p.Phe1990Val)
c.5971T>G (p.Phe1991Val)
c.5944T>G (p.Phe1982Val)
c.5881T>G (p.Phe1961Val)
c.5752T>G (p.Phe1918Val)
c.5740T>G (p.Phe1914Val)
c.5713T>G (p.Phe1905Val)
n.6297T>G
n.6271T>G
c.6067T>G (p.Phe2023Val)
c.6061T>G (p.Phe2021Val)
c.6058T>G (p.Phe2020Val)
c.5953T>G (p.Phe1985Val)
c.5950T>G (p.Phe1984Val)
n.6056T>G
n.5997T>G
n.6042T>G
11g.77208730T>ACA381934208MYO7Ac.5978T>A (p.Phe1993Tyr)
c.3779T>A
c.5831T>A (p.Phe1944Tyr)
c.3404T>A (p.Phe1135Tyr)
c.5864T>A (p.Phe1955Tyr)
n.3514T>A
n.892T>A
c.5861T>A (p.Phe1954Tyr)
c.5969T>A (p.Phe1990Tyr)
c.5972T>A (p.Phe1991Tyr)
c.5945T>A (p.Phe1982Tyr)
c.5882T>A (p.Phe1961Tyr)
c.5753T>A (p.Phe1918Tyr)
c.5741T>A (p.Phe1914Tyr)
c.5714T>A (p.Phe1905Tyr)
n.6298T>A
n.6272T>A
c.6068T>A (p.Phe2023Tyr)
c.6062T>A (p.Phe2021Tyr)
c.6059T>A (p.Phe2020Tyr)
c.5954T>A (p.Phe1985Tyr)
c.5951T>A (p.Phe1984Tyr)
n.6057T>A
n.5998T>A
n.6043T>A
11g.77208730T>CCA381934214MYO7Ac.5978T>C (p.Phe1993Ser)
c.3779T>C
c.5831T>C (p.Phe1944Ser)
c.3404T>C (p.Phe1135Ser)
c.5864T>C (p.Phe1955Ser)
n.3514T>C
n.892T>C
c.5861T>C (p.Phe1954Ser)
c.5969T>C (p.Phe1990Ser)
c.5972T>C (p.Phe1991Ser)
c.5945T>C (p.Phe1982Ser)
c.5882T>C (p.Phe1961Ser)
c.5753T>C (p.Phe1918Ser)
c.5741T>C (p.Phe1914Ser)
c.5714T>C (p.Phe1905Ser)
n.6298T>C
n.6272T>C
c.6068T>C (p.Phe2023Ser)
c.6062T>C (p.Phe2021Ser)
c.6059T>C (p.Phe2020Ser)
c.5954T>C (p.Phe1985Ser)
c.5951T>C (p.Phe1984Ser)
n.6057T>C
n.5998T>C
n.6043T>C
 gnomAD v4
11g.77208730T>GCA381934210MYO7Ac.5978T>G (p.Phe1993Cys)
c.3779T>G
c.5831T>G (p.Phe1944Cys)
c.3404T>G (p.Phe1135Cys)
c.5864T>G (p.Phe1955Cys)
n.3514T>G
n.892T>G
c.5861T>G (p.Phe1954Cys)
c.5969T>G (p.Phe1990Cys)
c.5972T>G (p.Phe1991Cys)
c.5945T>G (p.Phe1982Cys)
c.5882T>G (p.Phe1961Cys)
c.5753T>G (p.Phe1918Cys)
c.5741T>G (p.Phe1914Cys)
c.5714T>G (p.Phe1905Cys)
n.6298T>G
n.6272T>G
c.6068T>G (p.Phe2023Cys)
c.6062T>G (p.Phe2021Cys)
c.6059T>G (p.Phe2020Cys)
c.5954T>G (p.Phe1985Cys)
c.5951T>G (p.Phe1984Cys)
n.6057T>G
n.5998T>G
n.6043T>G
11g.77208731C>ACA381934219MYO7Ac.5979C>A (p.Phe1993Leu)
c.3780C>A
c.5832C>A (p.Phe1944Leu)
c.3405C>A (p.Phe1135Leu)
c.5865C>A (p.Phe1955Leu)
n.3515C>A
n.893C>A
c.5862C>A (p.Phe1954Leu)
c.5970C>A (p.Phe1990Leu)
c.5973C>A (p.Phe1991Leu)
c.5946C>A (p.Phe1982Leu)
c.5883C>A (p.Phe1961Leu)
c.5754C>A (p.Phe1918Leu)
c.5742C>A (p.Phe1914Leu)
c.5715C>A (p.Phe1905Leu)
n.6299C>A
n.6273C>A
c.6069C>A (p.Phe2023Leu)
c.6063C>A (p.Phe2021Leu)
c.6060C>A (p.Phe2020Leu)
c.5955C>A (p.Phe1985Leu)
c.5952C>A (p.Phe1984Leu)
n.6058C>A
n.5999C>A
n.6044C>A
 gnomAD v4
11g.77208731C=CA1984128580MYO7Ac.5979C= (p.Phe1993=)
c.3780C=
c.5832C= (p.Phe1944=)
c.3405C= (p.Phe1135=)
c.5865C= (p.Phe1955=)
n.3515C=
n.893C=
c.5862C= (p.Phe1954=)
c.5970C= (p.Phe1990=)
c.5973C= (p.Phe1991=)
c.5946C= (p.Phe1982=)
c.5883C= (p.Phe1961=)
c.5754C= (p.Phe1918=)
c.5742C= (p.Phe1914=)
c.5715C= (p.Phe1905=)
n.6299C=
n.6273C=
c.6069C= (p.Phe2023=)
c.6063C= (p.Phe2021=)
c.6060C= (p.Phe2020=)
c.5955C= (p.Phe1985=)
c.5952C= (p.Phe1984=)
n.6058C=
n.5999C=
n.6044C=
11g.77208731C>GCA381934221MYO7Ac.5979C>G (p.Phe1993Leu)
c.3780C>G
c.5832C>G (p.Phe1944Leu)
c.3405C>G (p.Phe1135Leu)
c.5865C>G (p.Phe1955Leu)
n.3515C>G
n.893C>G
c.5862C>G (p.Phe1954Leu)
c.5970C>G (p.Phe1990Leu)
c.5973C>G (p.Phe1991Leu)
c.5946C>G (p.Phe1982Leu)
c.5883C>G (p.Phe1961Leu)
c.5754C>G (p.Phe1918Leu)
c.5742C>G (p.Phe1914Leu)
c.5715C>G (p.Phe1905Leu)
n.6299C>G
n.6273C>G
c.6069C>G (p.Phe2023Leu)
c.6063C>G (p.Phe2021Leu)
c.6060C>G (p.Phe2020Leu)
c.5955C>G (p.Phe1985Leu)
c.5952C>G (p.Phe1984Leu)
n.6058C>G
n.5999C>G
n.6044C>G
 gnomAD v4
11g.77208731C>TCA475791679MYO7Ac.5979C>T (p.Phe1993=)
c.3780C>T
c.5832C>T (p.Phe1944=)
c.3405C>T (p.Phe1135=)
c.5865C>T (p.Phe1955=)
n.3515C>T
n.893C>T
c.5862C>T (p.Phe1954=)
c.5970C>T (p.Phe1990=)
c.5973C>T (p.Phe1991=)
c.5946C>T (p.Phe1982=)
c.5883C>T (p.Phe1961=)
c.5754C>T (p.Phe1918=)
c.5742C>T (p.Phe1914=)
c.5715C>T (p.Phe1905=)
n.6299C>T
n.6273C>T
c.6069C>T (p.Phe2023=)
c.6063C>T (p.Phe2021=)
c.6060C>T (p.Phe2020=)
c.5955C>T (p.Phe1985=)
c.5952C>T (p.Phe1984=)
n.6058C>T
n.5999C>T
n.6044C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77208732A>CCA381934225MYO7Ac.5980A>C (p.Met1994Leu)
c.3781A>C
c.5833A>C (p.Met1945Leu)
c.3406A>C (p.Met1136Leu)
c.5866A>C (p.Met1956Leu)
n.3516A>C
n.894A>C
c.5863A>C (p.Met1955Leu)
c.5971A>C (p.Met1991Leu)
c.5974A>C (p.Met1992Leu)
c.5947A>C (p.Met1983Leu)
c.5884A>C (p.Met1962Leu)
c.5755A>C (p.Met1919Leu)
c.5743A>C (p.Met1915Leu)
c.5716A>C (p.Met1906Leu)
n.6300A>C
n.6274A>C
c.6070A>C (p.Met2024Leu)
c.6064A>C (p.Met2022Leu)
c.6061A>C (p.Met2021Leu)
c.5956A>C (p.Met1986Leu)
c.5953A>C (p.Met1985Leu)
n.6059A>C
n.6000A>C
n.6045A>C
 dbSNP
11g.77208732A>GCA381934228MYO7Ac.5980A>G (p.Met1994Val)
c.3781A>G
c.5833A>G (p.Met1945Val)
c.3406A>G (p.Met1136Val)
c.5866A>G (p.Met1956Val)
n.3516A>G
n.894A>G
c.5863A>G (p.Met1955Val)
c.5971A>G (p.Met1991Val)
c.5974A>G (p.Met1992Val)
c.5947A>G (p.Met1983Val)
c.5884A>G (p.Met1962Val)
c.5755A>G (p.Met1919Val)
c.5743A>G (p.Met1915Val)
c.5716A>G (p.Met1906Val)
n.6300A>G
n.6274A>G
c.6070A>G (p.Met2024Val)
c.6064A>G (p.Met2022Val)
c.6061A>G (p.Met2021Val)
c.5956A>G (p.Met1986Val)
c.5953A>G (p.Met1985Val)
n.6059A>G
n.6000A>G
n.6045A>G
 gnomAD v4
11g.77208732A>TCA381934230MYO7Ac.5980A>T (p.Met1994Leu)
c.3781A>T
c.5833A>T (p.Met1945Leu)
c.3406A>T (p.Met1136Leu)
c.5866A>T (p.Met1956Leu)
n.3516A>T
n.894A>T
c.5863A>T (p.Met1955Leu)
c.5971A>T (p.Met1991Leu)
c.5974A>T (p.Met1992Leu)
c.5947A>T (p.Met1983Leu)
c.5884A>T (p.Met1962Leu)
c.5755A>T (p.Met1919Leu)
c.5743A>T (p.Met1915Leu)
c.5716A>T (p.Met1906Leu)
n.6300A>T
n.6274A>T
c.6070A>T (p.Met2024Leu)
c.6064A>T (p.Met2022Leu)
c.6061A>T (p.Met2021Leu)
c.5956A>T (p.Met1986Leu)
c.5953A>T (p.Met1985Leu)
n.6059A>T
n.6000A>T
n.6045A>T
11g.77208733T>ACA381934235MYO7Ac.5981T>A (p.Met1994Lys)
c.3782T>A
c.5834T>A (p.Met1945Lys)
c.3407T>A (p.Met1136Lys)
c.5867T>A (p.Met1956Lys)
n.3517T>A
n.895T>A
c.5864T>A (p.Met1955Lys)
c.5972T>A (p.Met1991Lys)
c.5975T>A (p.Met1992Lys)
c.5948T>A (p.Met1983Lys)
c.5885T>A (p.Met1962Lys)
c.5756T>A (p.Met1919Lys)
c.5744T>A (p.Met1915Lys)
c.5717T>A (p.Met1906Lys)
n.6301T>A
n.6275T>A
c.6071T>A (p.Met2024Lys)
c.6065T>A (p.Met2022Lys)
c.6062T>A (p.Met2021Lys)
c.5957T>A (p.Met1986Lys)
c.5954T>A (p.Met1985Lys)
n.6060T>A
n.6001T>A
n.6046T>A
11g.77208733T>CCA381934239MYO7Ac.5981T>C (p.Met1994Thr)
c.3782T>C
c.5834T>C (p.Met1945Thr)
c.3407T>C (p.Met1136Thr)
c.5867T>C (p.Met1956Thr)
n.3517T>C
n.895T>C
c.5864T>C (p.Met1955Thr)
c.5972T>C (p.Met1991Thr)
c.5975T>C (p.Met1992Thr)
c.5948T>C (p.Met1983Thr)
c.5885T>C (p.Met1962Thr)
c.5756T>C (p.Met1919Thr)
c.5744T>C (p.Met1915Thr)
c.5717T>C (p.Met1906Thr)
n.6301T>C
n.6275T>C
c.6071T>C (p.Met2024Thr)
c.6065T>C (p.Met2022Thr)
c.6062T>C (p.Met2021Thr)
c.5957T>C (p.Met1986Thr)
c.5954T>C (p.Met1985Thr)
n.6060T>C
n.6001T>C
n.6046T>C
 dbSNP gnomAD v4
11g.77208733T>GCA381934241MYO7Ac.5981T>G (p.Met1994Arg)
c.3782T>G
c.5834T>G (p.Met1945Arg)
c.3407T>G (p.Met1136Arg)
c.5867T>G (p.Met1956Arg)
n.3517T>G
n.895T>G
c.5864T>G (p.Met1955Arg)
c.5972T>G (p.Met1991Arg)
c.5975T>G (p.Met1992Arg)
c.5948T>G (p.Met1983Arg)
c.5885T>G (p.Met1962Arg)
c.5756T>G (p.Met1919Arg)
c.5744T>G (p.Met1915Arg)
c.5717T>G (p.Met1906Arg)
n.6301T>G
n.6275T>G
c.6071T>G (p.Met2024Arg)
c.6065T>G (p.Met2022Arg)
c.6062T>G (p.Met2021Arg)
c.5957T>G (p.Met1986Arg)
c.5954T>G (p.Met1985Arg)
n.6060T>G
n.6001T>G
n.6046T>G
 dbSNP gnomAD v3 gnomAD v4
11g.77208733T=CA1984128581MYO7Ac.5981T= (p.Met1994=)
c.3782T=
c.5834T= (p.Met1945=)
c.3407T= (p.Met1136=)
c.5867T= (p.Met1956=)
n.3517T=
n.895T=
c.5864T= (p.Met1955=)
c.5972T= (p.Met1991=)
c.5975T= (p.Met1992=)
c.5948T= (p.Met1983=)
c.5885T= (p.Met1962=)
c.5756T= (p.Met1919=)
c.5744T= (p.Met1915=)
c.5717T= (p.Met1906=)
n.6301T=
n.6275T=
c.6071T= (p.Met2024=)
c.6065T= (p.Met2022=)
c.6062T= (p.Met2021=)
c.5957T= (p.Met1986=)
c.5954T= (p.Met1985=)
n.6060T=
n.6001T=
n.6046T=
11g.77208734G>ACA381934246MYO7Ac.5982G>A (p.Met1994Ile)
c.3783G>A
c.5835G>A (p.Met1945Ile)
c.3408G>A (p.Met1136Ile)
c.5868G>A (p.Met1956Ile)
n.3518G>A
n.896G>A
c.5865G>A (p.Met1955Ile)
c.5973G>A (p.Met1991Ile)
c.5976G>A (p.Met1992Ile)
c.5949G>A (p.Met1983Ile)
c.5886G>A (p.Met1962Ile)
c.5757G>A (p.Met1919Ile)
c.5745G>A (p.Met1915Ile)
c.5718G>A (p.Met1906Ile)
n.6302G>A
n.6276G>A
c.6072G>A (p.Met2024Ile)
c.6066G>A (p.Met2022Ile)
c.6063G>A (p.Met2021Ile)
c.5958G>A (p.Met1986Ile)
c.5955G>A (p.Met1985Ile)
n.6061G>A
n.6002G>A
n.6047G>A
 ClinVar dbSNP gnomAD v4
11g.77208734G>CCA381934248MYO7Ac.5982G>C (p.Met1994Ile)
c.3783G>C
c.5835G>C (p.Met1945Ile)
c.3408G>C (p.Met1136Ile)
c.5868G>C (p.Met1956Ile)
n.3518G>C
n.896G>C
c.5865G>C (p.Met1955Ile)
c.5973G>C (p.Met1991Ile)
c.5976G>C (p.Met1992Ile)
c.5949G>C (p.Met1983Ile)
c.5886G>C (p.Met1962Ile)
c.5757G>C (p.Met1919Ile)
c.5745G>C (p.Met1915Ile)
c.5718G>C (p.Met1906Ile)
n.6302G>C
n.6276G>C
c.6072G>C (p.Met2024Ile)
c.6066G>C (p.Met2022Ile)
c.6063G>C (p.Met2021Ile)
c.5958G>C (p.Met1986Ile)
c.5955G>C (p.Met1985Ile)
n.6061G>C
n.6002G>C
n.6047G>C
11g.77208734G=CA1984128582MYO7Ac.5982G= (p.Met1994=)
c.3783G=
c.5835G= (p.Met1945=)
c.3408G= (p.Met1136=)
c.5868G= (p.Met1956=)
n.3518G=
n.896G=
c.5865G= (p.Met1955=)
c.5973G= (p.Met1991=)
c.5976G= (p.Met1992=)
c.5949G= (p.Met1983=)
c.5886G= (p.Met1962=)
c.5757G= (p.Met1919=)
c.5745G= (p.Met1915=)
c.5718G= (p.Met1906=)
n.6302G=
n.6276G=
c.6072G= (p.Met2024=)
c.6066G= (p.Met2022=)
c.6063G= (p.Met2021=)
c.5958G= (p.Met1986=)
c.5955G= (p.Met1985=)
n.6061G=
n.6002G=
n.6047G=
11g.77208734G>TCA381934250MYO7Ac.5982G>T (p.Met1994Ile)
c.3783G>T
c.5835G>T (p.Met1945Ile)
c.3408G>T (p.Met1136Ile)
c.5868G>T (p.Met1956Ile)
n.3518G>T
n.896G>T
c.5865G>T (p.Met1955Ile)
c.5973G>T (p.Met1991Ile)
c.5976G>T (p.Met1992Ile)
c.5949G>T (p.Met1983Ile)
c.5886G>T (p.Met1962Ile)
c.5757G>T (p.Met1919Ile)
c.5745G>T (p.Met1915Ile)
c.5718G>T (p.Met1906Ile)
n.6302G>T
n.6276G>T
c.6072G>T (p.Met2024Ile)
c.6066G>T (p.Met2022Ile)
c.6063G>T (p.Met2021Ile)
c.5958G>T (p.Met1986Ile)
c.5955G>T (p.Met1985Ile)
n.6061G>T
n.6002G>T
n.6047G>T
 gnomAD v4
11g.77208735A>CCA381934258MYO7Ac.5983A>C (p.Lys1995Gln)
c.3784A>C
c.5836A>C (p.Lys1946Gln)
c.3409A>C (p.Lys1137Gln)
c.5869A>C (p.Lys1957Gln)
n.3519A>C
n.897A>C
c.5866A>C (p.Lys1956Gln)
c.5974A>C (p.Lys1992Gln)
c.5977A>C (p.Lys1993Gln)
c.5950A>C (p.Lys1984Gln)
c.5887A>C (p.Lys1963Gln)
c.5758A>C (p.Lys1920Gln)
c.5746A>C (p.Lys1916Gln)
c.5719A>C (p.Lys1907Gln)
n.6303A>C
n.6277A>C
c.6073A>C (p.Lys2025Gln)
c.6067A>C (p.Lys2023Gln)
c.6064A>C (p.Lys2022Gln)
c.5959A>C (p.Lys1987Gln)
c.5956A>C (p.Lys1986Gln)
n.6062A>C
n.6003A>C
n.6048A>C
11g.77208735A>GCA381934255MYO7Ac.5983A>G (p.Lys1995Glu)
c.3784A>G
c.5836A>G (p.Lys1946Glu)
c.3409A>G (p.Lys1137Glu)
c.5869A>G (p.Lys1957Glu)
n.3519A>G
n.897A>G
c.5866A>G (p.Lys1956Glu)
c.5974A>G (p.Lys1992Glu)
c.5977A>G (p.Lys1993Glu)
c.5950A>G (p.Lys1984Glu)
c.5887A>G (p.Lys1963Glu)
c.5758A>G (p.Lys1920Glu)
c.5746A>G (p.Lys1916Glu)
c.5719A>G (p.Lys1907Glu)
n.6303A>G
n.6277A>G
c.6073A>G (p.Lys2025Glu)
c.6067A>G (p.Lys2023Glu)
c.6064A>G (p.Lys2022Glu)
c.5959A>G (p.Lys1987Glu)
c.5956A>G (p.Lys1986Glu)
n.6062A>G
n.6003A>G
n.6048A>G
11g.77208735A>TCA381934253MYO7Ac.5983A>T (p.Lys1995Ter)
c.3784A>T
c.5836A>T (p.Lys1946Ter)
c.3409A>T (p.Lys1137Ter)
c.5869A>T (p.Lys1957Ter)
n.3519A>T
n.897A>T
c.5866A>T (p.Lys1956Ter)
c.5974A>T (p.Lys1992Ter)
c.5977A>T (p.Lys1993Ter)
c.5950A>T (p.Lys1984Ter)
c.5887A>T (p.Lys1963Ter)
c.5758A>T (p.Lys1920Ter)
c.5746A>T (p.Lys1916Ter)
c.5719A>T (p.Lys1907Ter)
n.6303A>T
n.6277A>T
c.6073A>T (p.Lys2025Ter)
c.6067A>T (p.Lys2023Ter)
c.6064A>T (p.Lys2022Ter)
c.5959A>T (p.Lys1987Ter)
c.5956A>T (p.Lys1986Ter)
n.6062A>T
n.6003A>T
n.6048A>T
 gnomAD v4
11g.77208736A>CCA381934261MYO7Ac.5984A>C (p.Lys1995Thr)
c.3785A>C
c.5837A>C (p.Lys1946Thr)
c.3410A>C (p.Lys1137Thr)
c.5870A>C (p.Lys1957Thr)
n.3520A>C
n.898A>C
c.5867A>C (p.Lys1956Thr)
c.5975A>C (p.Lys1992Thr)
c.5978A>C (p.Lys1993Thr)
c.5951A>C (p.Lys1984Thr)
c.5888A>C (p.Lys1963Thr)
c.5759A>C (p.Lys1920Thr)
c.5747A>C (p.Lys1916Thr)
c.5720A>C (p.Lys1907Thr)
n.6304A>C
n.6278A>C
c.6074A>C (p.Lys2025Thr)
c.6068A>C (p.Lys2023Thr)
c.6065A>C (p.Lys2022Thr)
c.5960A>C (p.Lys1987Thr)
c.5957A>C (p.Lys1986Thr)
n.6063A>C
n.6004A>C
n.6049A>C
11g.77208736A>GCA381934263MYO7Ac.5984A>G (p.Lys1995Arg)
c.3785A>G
c.5837A>G (p.Lys1946Arg)
c.3410A>G (p.Lys1137Arg)
c.5870A>G (p.Lys1957Arg)
n.3520A>G
n.898A>G
c.5867A>G (p.Lys1956Arg)
c.5975A>G (p.Lys1992Arg)
c.5978A>G (p.Lys1993Arg)
c.5951A>G (p.Lys1984Arg)
c.5888A>G (p.Lys1963Arg)
c.5759A>G (p.Lys1920Arg)
c.5747A>G (p.Lys1916Arg)
c.5720A>G (p.Lys1907Arg)
n.6304A>G
n.6278A>G
c.6074A>G (p.Lys2025Arg)
c.6068A>G (p.Lys2023Arg)
c.6065A>G (p.Lys2022Arg)
c.5960A>G (p.Lys1987Arg)
c.5957A>G (p.Lys1986Arg)
n.6063A>G
n.6004A>G
n.6049A>G
 gnomAD v4
11g.77208736A>TCA381934266MYO7Ac.5984A>T (p.Lys1995Met)
c.3785A>T
c.5837A>T (p.Lys1946Met)
c.3410A>T (p.Lys1137Met)
c.5870A>T (p.Lys1957Met)
n.3520A>T
n.898A>T
c.5867A>T (p.Lys1956Met)
c.5975A>T (p.Lys1992Met)
c.5978A>T (p.Lys1993Met)
c.5951A>T (p.Lys1984Met)
c.5888A>T (p.Lys1963Met)
c.5759A>T (p.Lys1920Met)
c.5747A>T (p.Lys1916Met)
c.5720A>T (p.Lys1907Met)
n.6304A>T
n.6278A>T
c.6074A>T (p.Lys2025Met)
c.6068A>T (p.Lys2023Met)
c.6065A>T (p.Lys2022Met)
c.5960A>T (p.Lys1987Met)
c.5957A>T (p.Lys1986Met)
n.6063A>T
n.6004A>T
n.6049A>T
11g.77208737G>ACA475791680MYO7Ac.5985G>A (p.Lys1995=)
c.3786G>A
c.5838G>A (p.Lys1946=)
c.3411G>A (p.Lys1137=)
c.5871G>A (p.Lys1957=)
n.3521G>A
n.899G>A
c.5868G>A (p.Lys1956=)
c.5976G>A (p.Lys1992=)
c.5979G>A (p.Lys1993=)
c.5952G>A (p.Lys1984=)
c.5889G>A (p.Lys1963=)
c.5760G>A (p.Lys1920=)
c.5748G>A (p.Lys1916=)
c.5721G>A (p.Lys1907=)
n.6305G>A
n.6279G>A
c.6075G>A (p.Lys2025=)
c.6069G>A (p.Lys2023=)
c.6066G>A (p.Lys2022=)
c.5961G>A (p.Lys1987=)
c.5958G>A (p.Lys1986=)
n.6064G>A
n.6005G>A
n.6050G>A
 dbSNP gnomAD v2
11g.77208737G>CCA381934271MYO7Ac.5985G>C (p.Lys1995Asn)
c.3786G>C
c.5838G>C (p.Lys1946Asn)
c.3411G>C (p.Lys1137Asn)
c.5871G>C (p.Lys1957Asn)
n.3521G>C
n.899G>C
c.5868G>C (p.Lys1956Asn)
c.5976G>C (p.Lys1992Asn)
c.5979G>C (p.Lys1993Asn)
c.5952G>C (p.Lys1984Asn)
c.5889G>C (p.Lys1963Asn)
c.5760G>C (p.Lys1920Asn)
c.5748G>C (p.Lys1916Asn)
c.5721G>C (p.Lys1907Asn)
n.6305G>C
n.6279G>C
c.6075G>C (p.Lys2025Asn)
c.6069G>C (p.Lys2023Asn)
c.6066G>C (p.Lys2022Asn)
c.5961G>C (p.Lys1987Asn)
c.5958G>C (p.Lys1986Asn)
n.6064G>C
n.6005G>C
n.6050G>C
11g.77208737G=CA1984128583MYO7Ac.5985G= (p.Lys1995=)
c.3786G=
c.5838G= (p.Lys1946=)
c.3411G= (p.Lys1137=)
c.5871G= (p.Lys1957=)
n.3521G=
n.899G=
c.5868G= (p.Lys1956=)
c.5976G= (p.Lys1992=)
c.5979G= (p.Lys1993=)
c.5952G= (p.Lys1984=)
c.5889G= (p.Lys1963=)
c.5760G= (p.Lys1920=)
c.5748G= (p.Lys1916=)
c.5721G= (p.Lys1907=)
n.6305G=
n.6279G=
c.6075G= (p.Lys2025=)
c.6069G= (p.Lys2023=)
c.6066G= (p.Lys2022=)
c.5961G= (p.Lys1987=)
c.5958G= (p.Lys1986=)
n.6064G=
n.6005G=
n.6050G=
11g.77208737G>TCA381934274MYO7Ac.5985G>T (p.Lys1995Asn)
c.3786G>T
c.5838G>T (p.Lys1946Asn)
c.3411G>T (p.Lys1137Asn)
c.5871G>T (p.Lys1957Asn)
n.3521G>T
n.899G>T
c.5868G>T (p.Lys1956Asn)
c.5976G>T (p.Lys1992Asn)
c.5979G>T (p.Lys1993Asn)
c.5952G>T (p.Lys1984Asn)
c.5889G>T (p.Lys1963Asn)
c.5760G>T (p.Lys1920Asn)
c.5748G>T (p.Lys1916Asn)
c.5721G>T (p.Lys1907Asn)
n.6305G>T
n.6279G>T
c.6075G>T (p.Lys2025Asn)
c.6069G>T (p.Lys2023Asn)
c.6066G>T (p.Lys2022Asn)
c.5961G>T (p.Lys1987Asn)
c.5958G>T (p.Lys1986Asn)
n.6064G>T
n.6005G>T
n.6050G>T
 gnomAD v4
11g.77208738A>CCA381934277MYO7Ac.5986A>C (p.Lys1996Gln)
c.3787A>C
c.5839A>C (p.Lys1947Gln)
c.3412A>C (p.Lys1138Gln)
c.5872A>C (p.Lys1958Gln)
n.3522A>C
n.900A>C
c.5869A>C (p.Lys1957Gln)
c.5977A>C (p.Lys1993Gln)
c.5980A>C (p.Lys1994Gln)
c.5953A>C (p.Lys1985Gln)
c.5890A>C (p.Lys1964Gln)
c.5761A>C (p.Lys1921Gln)
c.5749A>C (p.Lys1917Gln)
c.5722A>C (p.Lys1908Gln)
n.6306A>C
n.6280A>C
c.6076A>C (p.Lys2026Gln)
c.6070A>C (p.Lys2024Gln)
c.6067A>C (p.Lys2023Gln)
c.5962A>C (p.Lys1988Gln)
c.5959A>C (p.Lys1987Gln)
n.6065A>C
n.6006A>C
n.6051A>C
 gnomAD v4
11g.77208738A>GCA381934286MYO7Ac.5986A>G (p.Lys1996Glu)
c.3787A>G
c.5839A>G (p.Lys1947Glu)
c.3412A>G (p.Lys1138Glu)
c.5872A>G (p.Lys1958Glu)
n.3522A>G
n.900A>G
c.5869A>G (p.Lys1957Glu)
c.5977A>G (p.Lys1993Glu)
c.5980A>G (p.Lys1994Glu)
c.5953A>G (p.Lys1985Glu)
c.5890A>G (p.Lys1964Glu)
c.5761A>G (p.Lys1921Glu)
c.5749A>G (p.Lys1917Glu)
c.5722A>G (p.Lys1908Glu)
n.6306A>G
n.6280A>G
c.6076A>G (p.Lys2026Glu)
c.6070A>G (p.Lys2024Glu)
c.6067A>G (p.Lys2023Glu)
c.5962A>G (p.Lys1988Glu)
c.5959A>G (p.Lys1987Glu)
n.6065A>G
n.6006A>G
n.6051A>G
11g.77208738A>TCA381934291MYO7Ac.5986A>T (p.Lys1996Ter)
c.3787A>T
c.5839A>T (p.Lys1947Ter)
c.3412A>T (p.Lys1138Ter)
c.5872A>T (p.Lys1958Ter)
n.3522A>T
n.900A>T
c.5869A>T (p.Lys1957Ter)
c.5977A>T (p.Lys1993Ter)
c.5980A>T (p.Lys1994Ter)
c.5953A>T (p.Lys1985Ter)
c.5890A>T (p.Lys1964Ter)
c.5761A>T (p.Lys1921Ter)
c.5749A>T (p.Lys1917Ter)
c.5722A>T (p.Lys1908Ter)
n.6306A>T
n.6280A>T
c.6076A>T (p.Lys2026Ter)
c.6070A>T (p.Lys2024Ter)
c.6067A>T (p.Lys2023Ter)
c.5962A>T (p.Lys1988Ter)
c.5959A>T (p.Lys1987Ter)
n.6065A>T
n.6006A>T
n.6051A>T
11g.77208739A=CA1984128584MYO7Ac.5987A= (p.Lys1996=)
c.3788A=
c.5840A= (p.Lys1947=)
c.3413A= (p.Lys1138=)
c.5873A= (p.Lys1958=)
n.3523A=
n.901A=
c.5870A= (p.Lys1957=)
c.5978A= (p.Lys1993=)
c.5981A= (p.Lys1994=)
c.5954A= (p.Lys1985=)
c.5891A= (p.Lys1964=)
c.5762A= (p.Lys1921=)
c.5750A= (p.Lys1917=)
c.5723A= (p.Lys1908=)
n.6307A=
n.6281A=
c.6077A= (p.Lys2026=)
c.6071A= (p.Lys2024=)
c.6068A= (p.Lys2023=)
c.5963A= (p.Lys1988=)
c.5960A= (p.Lys1987=)
n.6066A=
n.6007A=
n.6052A=
11g.77208739A>CCA381934296MYO7Ac.5987A>C (p.Lys1996Thr)
c.3788A>C
c.5840A>C (p.Lys1947Thr)
c.3413A>C (p.Lys1138Thr)
c.5873A>C (p.Lys1958Thr)
n.3523A>C
n.901A>C
c.5870A>C (p.Lys1957Thr)
c.5978A>C (p.Lys1993Thr)
c.5981A>C (p.Lys1994Thr)
c.5954A>C (p.Lys1985Thr)
c.5891A>C (p.Lys1964Thr)
c.5762A>C (p.Lys1921Thr)
c.5750A>C (p.Lys1917Thr)
c.5723A>C (p.Lys1908Thr)
n.6307A>C
n.6281A>C
c.6077A>C (p.Lys2026Thr)
c.6071A>C (p.Lys2024Thr)
c.6068A>C (p.Lys2023Thr)
c.5963A>C (p.Lys1988Thr)
c.5960A>C (p.Lys1987Thr)
n.6066A>C
n.6007A>C
n.6052A>C
11g.77208739A>GCA381934300MYO7Ac.5987A>G (p.Lys1996Arg)
c.3788A>G
c.5840A>G (p.Lys1947Arg)
c.3413A>G (p.Lys1138Arg)
c.5873A>G (p.Lys1958Arg)
n.3523A>G
n.901A>G
c.5870A>G (p.Lys1957Arg)
c.5978A>G (p.Lys1993Arg)
c.5981A>G (p.Lys1994Arg)
c.5954A>G (p.Lys1985Arg)
c.5891A>G (p.Lys1964Arg)
c.5762A>G (p.Lys1921Arg)
c.5750A>G (p.Lys1917Arg)
c.5723A>G (p.Lys1908Arg)
n.6307A>G
n.6281A>G
c.6077A>G (p.Lys2026Arg)
c.6071A>G (p.Lys2024Arg)
c.6068A>G (p.Lys2023Arg)
c.5963A>G (p.Lys1988Arg)
c.5960A>G (p.Lys1987Arg)
n.6066A>G
n.6007A>G
n.6052A>G
11g.77208739A>TCA381934299MYO7Ac.5987A>T (p.Lys1996Met)
c.3788A>T
c.5840A>T (p.Lys1947Met)
c.3413A>T (p.Lys1138Met)
c.5873A>T (p.Lys1958Met)
n.3523A>T
n.901A>T
c.5870A>T (p.Lys1957Met)
c.5978A>T (p.Lys1993Met)
c.5981A>T (p.Lys1994Met)
c.5954A>T (p.Lys1985Met)
c.5891A>T (p.Lys1964Met)
c.5762A>T (p.Lys1921Met)
c.5750A>T (p.Lys1917Met)
c.5723A>T (p.Lys1908Met)
n.6307A>T
n.6281A>T
c.6077A>T (p.Lys2026Met)
c.6071A>T (p.Lys2024Met)
c.6068A>T (p.Lys2023Met)
c.5963A>T (p.Lys1988Met)
c.5960A>T (p.Lys1987Met)
n.6066A>T
n.6007A>T
n.6052A>T
 dbSNP gnomAD v2 gnomAD v4
11g.77208739_77208740insCACA939778033MYO7Ac.5987_5988insCA (p.Lys1996AsnfsTer?)
c.3788_3789insCA
c.5840_5841insCA (p.Lys1947AsnfsTer?)
c.3413_3414insCA (p.Lys1138AsnfsTer?)
c.5873_5874insCA (p.Lys1958AsnfsTer?)
n.3523_3524insCA
n.901_902insCA
c.5870_5871insCA (p.Lys1957AsnfsTer?)
c.5978_5979insCA (p.Lys1993AsnfsTer?)
c.5981_5982insCA (p.Lys1994AsnfsTer?)
c.5954_5955insCA (p.Lys1985AsnfsTer?)
c.5891_5892insCA (p.Lys1964AsnfsTer?)
c.5762_5763insCA (p.Lys1921AsnfsTer?)
c.5750_5751insCA (p.Lys1917AsnfsTer?)
c.5723_5724insCA (p.Lys1908AsnfsTer?)
n.6307_6308insCA
n.6281_6282insCA
c.6077_6078insCA (p.Lys2026AsnfsTer?)
c.6071_6072insCA (p.Lys2024AsnfsTer?)
c.6068_6069insCA (p.Lys2023AsnfsTer?)
c.5963_5964insCA (p.Lys1988AsnfsTer?)
c.5960_5961insCA (p.Lys1987AsnfsTer?)
n.6066_6067insCA
n.6007_6008insCA
n.6052_6053insCA
 gnomAD v3 gnomAD v4
11g.77208740G>ACA475791682MYO7Ac.5988G>A (p.Lys1996=)
c.3789G>A
c.5841G>A (p.Lys1947=)
c.3414G>A (p.Lys1138=)
c.5874G>A (p.Lys1958=)
n.3524G>A
n.902G>A
c.5871G>A (p.Lys1957=)
c.5979G>A (p.Lys1993=)
c.5982G>A (p.Lys1994=)
c.5955G>A (p.Lys1985=)
c.5892G>A (p.Lys1964=)
c.5763G>A (p.Lys1921=)
c.5751G>A (p.Lys1917=)
c.5724G>A (p.Lys1908=)
n.6308G>A
n.6282G>A
c.6078G>A (p.Lys2026=)
c.6072G>A (p.Lys2024=)
c.6069G>A (p.Lys2023=)
c.5964G>A (p.Lys1988=)
c.5961G>A (p.Lys1987=)
n.6067G>A
n.6008G>A
n.6053G>A
11g.77208740G>CCA381934302MYO7Ac.5988G>C (p.Lys1996Asn)
c.3789G>C
c.5841G>C (p.Lys1947Asn)
c.3414G>C (p.Lys1138Asn)
c.5874G>C (p.Lys1958Asn)
n.3524G>C
n.902G>C
c.5871G>C (p.Lys1957Asn)
c.5979G>C (p.Lys1993Asn)
c.5982G>C (p.Lys1994Asn)
c.5955G>C (p.Lys1985Asn)
c.5892G>C (p.Lys1964Asn)
c.5763G>C (p.Lys1921Asn)
c.5751G>C (p.Lys1917Asn)
c.5724G>C (p.Lys1908Asn)
n.6308G>C
n.6282G>C
c.6078G>C (p.Lys2026Asn)
c.6072G>C (p.Lys2024Asn)
c.6069G>C (p.Lys2023Asn)
c.5964G>C (p.Lys1988Asn)
c.5961G>C (p.Lys1987Asn)
n.6067G>C
n.6008G>C
n.6053G>C
 gnomAD v3 gnomAD v4
11g.77208740G>TCA381934303MYO7Ac.5988G>T (p.Lys1996Asn)
c.3789G>T
c.5841G>T (p.Lys1947Asn)
c.3414G>T (p.Lys1138Asn)
c.5874G>T (p.Lys1958Asn)
n.3524G>T
n.902G>T
c.5871G>T (p.Lys1957Asn)
c.5979G>T (p.Lys1993Asn)
c.5982G>T (p.Lys1994Asn)
c.5955G>T (p.Lys1985Asn)
c.5892G>T (p.Lys1964Asn)
c.5763G>T (p.Lys1921Asn)
c.5751G>T (p.Lys1917Asn)
c.5724G>T (p.Lys1908Asn)
n.6308G>T
n.6282G>T
c.6078G>T (p.Lys2026Asn)
c.6072G>T (p.Lys2024Asn)
c.6069G>T (p.Lys2023Asn)
c.5964G>T (p.Lys1988Asn)
c.5961G>T (p.Lys1987Asn)
n.6067G>T
n.6008G>T
n.6053G>T
 gnomAD v4
11g.77208741C>ACA381934307MYO7Ac.5989C>A (p.Leu1997Met)
c.3790C>A
c.5842C>A (p.Leu1948Met)
c.3415C>A (p.Leu1139Met)
c.5875C>A (p.Leu1959Met)
n.3525C>A
n.903C>A
c.5872C>A (p.Leu1958Met)
c.5980C>A (p.Leu1994Met)
c.5983C>A (p.Leu1995Met)
c.5956C>A (p.Leu1986Met)
c.5893C>A (p.Leu1965Met)
c.5764C>A (p.Leu1922Met)
c.5752C>A (p.Leu1918Met)
c.5725C>A (p.Leu1909Met)
n.6309C>A
n.6283C>A
c.6079C>A (p.Leu2027Met)
c.6073C>A (p.Leu2025Met)
c.6070C>A (p.Leu2024Met)
c.5965C>A (p.Leu1989Met)
c.5962C>A (p.Leu1988Met)
n.6068C>A
n.6009C>A
n.6054C>A
 gnomAD v4
11g.77208741C>GCA381934310MYO7Ac.5989C>G (p.Leu1997Val)
c.3790C>G
c.5842C>G (p.Leu1948Val)
c.3415C>G (p.Leu1139Val)
c.5875C>G (p.Leu1959Val)
n.3525C>G
n.903C>G
c.5872C>G (p.Leu1958Val)
c.5980C>G (p.Leu1994Val)
c.5983C>G (p.Leu1995Val)
c.5956C>G (p.Leu1986Val)
c.5893C>G (p.Leu1965Val)
c.5764C>G (p.Leu1922Val)
c.5752C>G (p.Leu1918Val)
c.5725C>G (p.Leu1909Val)
n.6309C>G
n.6283C>G
c.6079C>G (p.Leu2027Val)
c.6073C>G (p.Leu2025Val)
c.6070C>G (p.Leu2024Val)
c.5965C>G (p.Leu1989Val)
c.5962C>G (p.Leu1988Val)
n.6068C>G
n.6009C>G
n.6054C>G
11g.77208741C>TCA475791683MYO7Ac.5989C>T (p.Leu1997=)
c.3790C>T
c.5842C>T (p.Leu1948=)
c.3415C>T (p.Leu1139=)
c.5875C>T (p.Leu1959=)
n.3525C>T
n.903C>T
c.5872C>T (p.Leu1958=)
c.5980C>T (p.Leu1994=)
c.5983C>T (p.Leu1995=)
c.5956C>T (p.Leu1986=)
c.5893C>T (p.Leu1965=)
c.5764C>T (p.Leu1922=)
c.5752C>T (p.Leu1918=)
c.5725C>T (p.Leu1909=)
n.6309C>T
n.6283C>T
c.6079C>T (p.Leu2027=)
c.6073C>T (p.Leu2025=)
c.6070C>T (p.Leu2024=)
c.5965C>T (p.Leu1989=)
c.5962C>T (p.Leu1988=)
n.6068C>T
n.6009C>T
n.6054C>T
11g.77208742T>ACA381934314MYO7Ac.5990T>A (p.Leu1997Gln)
c.3791T>A
c.5843T>A (p.Leu1948Gln)
c.3416T>A (p.Leu1139Gln)
c.5876T>A (p.Leu1959Gln)
n.3526T>A
n.904T>A
c.5873T>A (p.Leu1958Gln)
c.5981T>A (p.Leu1994Gln)
c.5984T>A (p.Leu1995Gln)
c.5957T>A (p.Leu1986Gln)
c.5894T>A (p.Leu1965Gln)
c.5765T>A (p.Leu1922Gln)
c.5753T>A (p.Leu1918Gln)
c.5726T>A (p.Leu1909Gln)
n.6310T>A
n.6284T>A
c.6080T>A (p.Leu2027Gln)
c.6074T>A (p.Leu2025Gln)
c.6071T>A (p.Leu2024Gln)
c.5966T>A (p.Leu1989Gln)
c.5963T>A (p.Leu1988Gln)
n.6069T>A
n.6010T>A
n.6055T>A
 gnomAD v4
11g.77208742T>CCA381934320MYO7Ac.5990T>C (p.Leu1997Pro)
c.3791T>C
c.5843T>C (p.Leu1948Pro)
c.3416T>C (p.Leu1139Pro)
c.5876T>C (p.Leu1959Pro)
n.3526T>C
n.904T>C
c.5873T>C (p.Leu1958Pro)
c.5981T>C (p.Leu1994Pro)
c.5984T>C (p.Leu1995Pro)
c.5957T>C (p.Leu1986Pro)
c.5894T>C (p.Leu1965Pro)
c.5765T>C (p.Leu1922Pro)
c.5753T>C (p.Leu1918Pro)
c.5726T>C (p.Leu1909Pro)
n.6310T>C
n.6284T>C
c.6080T>C (p.Leu2027Pro)
c.6074T>C (p.Leu2025Pro)
c.6071T>C (p.Leu2024Pro)
c.5966T>C (p.Leu1989Pro)
c.5963T>C (p.Leu1988Pro)
n.6069T>C
n.6010T>C
n.6055T>C
 gnomAD v4
11g.77208742T>GCA381934316MYO7Ac.5990T>G (p.Leu1997Arg)
c.3791T>G
c.5843T>G (p.Leu1948Arg)
c.3416T>G (p.Leu1139Arg)
c.5876T>G (p.Leu1959Arg)
n.3526T>G
n.904T>G
c.5873T>G (p.Leu1958Arg)
c.5981T>G (p.Leu1994Arg)
c.5984T>G (p.Leu1995Arg)
c.5957T>G (p.Leu1986Arg)
c.5894T>G (p.Leu1965Arg)
c.5765T>G (p.Leu1922Arg)
c.5753T>G (p.Leu1918Arg)
c.5726T>G (p.Leu1909Arg)
n.6310T>G
n.6284T>G
c.6080T>G (p.Leu2027Arg)
c.6074T>G (p.Leu2025Arg)
c.6071T>G (p.Leu2024Arg)
c.5966T>G (p.Leu1989Arg)
c.5963T>G (p.Leu1988Arg)
n.6069T>G
n.6010T>G
n.6055T>G
11g.77208743G>ACA475791684MYO7Ac.5991G>A (p.Leu1997=)
c.3792G>A
c.5844G>A (p.Leu1948=)
c.3417G>A (p.Leu1139=)
c.5877G>A (p.Leu1959=)
n.3527G>A
n.905G>A
c.5874G>A (p.Leu1958=)
c.5982G>A (p.Leu1994=)
c.5985G>A (p.Leu1995=)
c.5958G>A (p.Leu1986=)
c.5895G>A (p.Leu1965=)
c.5766G>A (p.Leu1922=)
c.5754G>A (p.Leu1918=)
c.5727G>A (p.Leu1909=)
n.6311G>A
n.6285G>A
c.6081G>A (p.Leu2027=)
c.6075G>A (p.Leu2025=)
c.6072G>A (p.Leu2024=)
c.5967G>A (p.Leu1989=)
c.5964G>A (p.Leu1988=)
n.6070G>A
n.6011G>A
n.6056G>A
 dbSNP gnomAD v3 gnomAD v4
11g.77208743G>CCA475791685MYO7Ac.5991G>C (p.Leu1997=)
c.3792G>C
c.5844G>C (p.Leu1948=)
c.3417G>C (p.Leu1139=)
c.5877G>C (p.Leu1959=)
n.3527G>C
n.905G>C
c.5874G>C (p.Leu1958=)
c.5982G>C (p.Leu1994=)
c.5985G>C (p.Leu1995=)
c.5958G>C (p.Leu1986=)
c.5895G>C (p.Leu1965=)
c.5766G>C (p.Leu1922=)
c.5754G>C (p.Leu1918=)
c.5727G>C (p.Leu1909=)
n.6311G>C
n.6285G>C
c.6081G>C (p.Leu2027=)
c.6075G>C (p.Leu2025=)
c.6072G>C (p.Leu2024=)
c.5967G>C (p.Leu1989=)
c.5964G>C (p.Leu1988=)
n.6070G>C
n.6011G>C
n.6056G>C
11g.77208743G=CA1984128585MYO7Ac.5991G= (p.Leu1997=)
c.3792G=
c.5844G= (p.Leu1948=)
c.3417G= (p.Leu1139=)
c.5877G= (p.Leu1959=)
n.3527G=
n.905G=
c.5874G= (p.Leu1958=)
c.5982G= (p.Leu1994=)
c.5985G= (p.Leu1995=)
c.5958G= (p.Leu1986=)
c.5895G= (p.Leu1965=)
c.5766G= (p.Leu1922=)
c.5754G= (p.Leu1918=)
c.5727G= (p.Leu1909=)
n.6311G=
n.6285G=
c.6081G= (p.Leu2027=)
c.6075G= (p.Leu2025=)
c.6072G= (p.Leu2024=)
c.5967G= (p.Leu1989=)
c.5964G= (p.Leu1988=)
n.6070G=
n.6011G=
n.6056G=
11g.77208743G>TCA475791686MYO7Ac.5991G>T (p.Leu1997=)
c.3792G>T
c.5844G>T (p.Leu1948=)
c.3417G>T (p.Leu1139=)
c.5877G>T (p.Leu1959=)
n.3527G>T
n.905G>T
c.5874G>T (p.Leu1958=)
c.5982G>T (p.Leu1994=)
c.5985G>T (p.Leu1995=)
c.5958G>T (p.Leu1986=)
c.5895G>T (p.Leu1965=)
c.5766G>T (p.Leu1922=)
c.5754G>T (p.Leu1918=)
c.5727G>T (p.Leu1909=)
n.6311G>T
n.6285G>T
c.6081G>T (p.Leu2027=)
c.6075G>T (p.Leu2025=)
c.6072G>T (p.Leu2024=)
c.5967G>T (p.Leu1989=)
c.5964G>T (p.Leu1988=)
n.6070G>T
n.6011G>T
n.6056G>T
 gnomAD v4
11g.77208744T>ACA381934324MYO7Ac.5992T>A (p.Trp1998Arg)
c.3793T>A
c.5845T>A (p.Trp1949Arg)
c.3418T>A (p.Trp1140Arg)
c.5878T>A (p.Trp1960Arg)
n.3528T>A
n.906T>A
c.5875T>A (p.Trp1959Arg)
c.5983T>A (p.Trp1995Arg)
c.5986T>A (p.Trp1996Arg)
c.5959T>A (p.Trp1987Arg)
c.5896T>A (p.Trp1966Arg)
c.5767T>A (p.Trp1923Arg)
c.5755T>A (p.Trp1919Arg)
c.5728T>A (p.Trp1910Arg)
n.6312T>A
n.6286T>A
c.6082T>A (p.Trp2028Arg)
c.6076T>A (p.Trp2026Arg)
c.6073T>A (p.Trp2025Arg)
c.5968T>A (p.Trp1990Arg)
c.5965T>A (p.Trp1989Arg)
n.6071T>A
n.6012T>A
n.6057T>A
 gnomAD v4
11g.77208744T>CCA381934328MYO7Ac.5992T>C (p.Trp1998Arg)
c.3793T>C
c.5845T>C (p.Trp1949Arg)
c.3418T>C (p.Trp1140Arg)
c.5878T>C (p.Trp1960Arg)
n.3528T>C
n.906T>C
c.5875T>C (p.Trp1959Arg)
c.5983T>C (p.Trp1995Arg)
c.5986T>C (p.Trp1996Arg)
c.5959T>C (p.Trp1987Arg)
c.5896T>C (p.Trp1966Arg)
c.5767T>C (p.Trp1923Arg)
c.5755T>C (p.Trp1919Arg)
c.5728T>C (p.Trp1910Arg)
n.6312T>C
n.6286T>C
c.6082T>C (p.Trp2028Arg)
c.6076T>C (p.Trp2026Arg)
c.6073T>C (p.Trp2025Arg)
c.5968T>C (p.Trp1990Arg)
c.5965T>C (p.Trp1989Arg)
n.6071T>C
n.6012T>C
n.6057T>C
 gnomAD v4
11g.77208744T>GCA381934331MYO7Ac.5992T>G (p.Trp1998Gly)
c.3793T>G
c.5845T>G (p.Trp1949Gly)
c.3418T>G (p.Trp1140Gly)
c.5878T>G (p.Trp1960Gly)
n.3528T>G
n.906T>G
c.5875T>G (p.Trp1959Gly)
c.5983T>G (p.Trp1995Gly)
c.5986T>G (p.Trp1996Gly)
c.5959T>G (p.Trp1987Gly)
c.5896T>G (p.Trp1966Gly)
c.5767T>G (p.Trp1923Gly)
c.5755T>G (p.Trp1919Gly)
c.5728T>G (p.Trp1910Gly)
n.6312T>G
n.6286T>G
c.6082T>G (p.Trp2028Gly)
c.6076T>G (p.Trp2026Gly)
c.6073T>G (p.Trp2025Gly)
c.5968T>G (p.Trp1990Gly)
c.5965T>G (p.Trp1989Gly)
n.6071T>G
n.6012T>G
n.6057T>G
11g.77208745G>ACA381934334MYO7Ac.5993G>A (p.Trp1998Ter)
c.3794G>A
c.5846G>A (p.Trp1949Ter)
c.3419G>A (p.Trp1140Ter)
c.5879G>A (p.Trp1960Ter)
n.3529G>A
n.907G>A
c.5876G>A (p.Trp1959Ter)
c.5984G>A (p.Trp1995Ter)
c.5987G>A (p.Trp1996Ter)
c.5960G>A (p.Trp1987Ter)
c.5897G>A (p.Trp1966Ter)
c.5768G>A (p.Trp1923Ter)
c.5756G>A (p.Trp1919Ter)
c.5729G>A (p.Trp1910Ter)
n.6313G>A
n.6287G>A
c.6083G>A (p.Trp2028Ter)
c.6077G>A (p.Trp2026Ter)
c.6074G>A (p.Trp2025Ter)
c.5969G>A (p.Trp1990Ter)
c.5966G>A (p.Trp1989Ter)
n.6072G>A
n.6013G>A
n.6058G>A
 gnomAD v4
11g.77208745G>CCA381934338MYO7Ac.5993G>C (p.Trp1998Ser)
c.3794G>C
c.5846G>C (p.Trp1949Ser)
c.3419G>C (p.Trp1140Ser)
c.5879G>C (p.Trp1960Ser)
n.3529G>C
n.907G>C
c.5876G>C (p.Trp1959Ser)
c.5984G>C (p.Trp1995Ser)
c.5987G>C (p.Trp1996Ser)
c.5960G>C (p.Trp1987Ser)
c.5897G>C (p.Trp1966Ser)
c.5768G>C (p.Trp1923Ser)
c.5756G>C (p.Trp1919Ser)
c.5729G>C (p.Trp1910Ser)
n.6313G>C
n.6287G>C
c.6083G>C (p.Trp2028Ser)
c.6077G>C (p.Trp2026Ser)
c.6074G>C (p.Trp2025Ser)
c.5969G>C (p.Trp1990Ser)
c.5966G>C (p.Trp1989Ser)
n.6072G>C
n.6013G>C
n.6058G>C
11g.77208745G>TCA381934341MYO7Ac.5993G>T (p.Trp1998Leu)
c.3794G>T
c.5846G>T (p.Trp1949Leu)
c.3419G>T (p.Trp1140Leu)
c.5879G>T (p.Trp1960Leu)
n.3529G>T
n.907G>T
c.5876G>T (p.Trp1959Leu)
c.5984G>T (p.Trp1995Leu)
c.5987G>T (p.Trp1996Leu)
c.5960G>T (p.Trp1987Leu)
c.5897G>T (p.Trp1966Leu)
c.5768G>T (p.Trp1923Leu)
c.5756G>T (p.Trp1919Leu)
c.5729G>T (p.Trp1910Leu)
n.6313G>T
n.6287G>T
c.6083G>T (p.Trp2028Leu)
c.6077G>T (p.Trp2026Leu)
c.6074G>T (p.Trp2025Leu)
c.5969G>T (p.Trp1990Leu)
c.5966G>T (p.Trp1989Leu)
n.6072G>T
n.6013G>T
n.6058G>T
 gnomAD v4
11g.77208746delCA2615256141MYO7Ac.5994del (p.Trp1998Ter)
c.3795del
c.5847del (p.Trp1949Ter)
c.3420del (p.Trp1140Ter)
c.5880del (p.Trp1960Ter)
n.3530del
n.908del
c.5877del (p.Trp1959Ter)
c.5985del (p.Trp1995Ter)
c.5988del (p.Trp1996Ter)
c.5961del (p.Trp1987Ter)
c.5898del (p.Trp1966Ter)
c.5769del (p.Trp1923Ter)
c.5757del (p.Trp1919Ter)
c.5730del (p.Trp1910Ter)
n.6314del
n.6288del
c.6084del (p.Trp2028Ter)
c.6078del (p.Trp2026Ter)
c.6075del (p.Trp2025Ter)
c.5970del (p.Trp1990Ter)
c.5967del (p.Trp1989Ter)
n.6073del
n.6014del
n.6059del
 gnomAD v4
11g.77208746G>ACA381934344MYO7Ac.5994G>A (p.Trp1998Ter)
c.3795G>A
c.5847G>A (p.Trp1949Ter)
c.3420G>A (p.Trp1140Ter)
c.5880G>A (p.Trp1960Ter)
n.3530G>A
n.908G>A
c.5877G>A (p.Trp1959Ter)
c.5985G>A (p.Trp1995Ter)
c.5988G>A (p.Trp1996Ter)
c.5961G>A (p.Trp1987Ter)
c.5898G>A (p.Trp1966Ter)
c.5769G>A (p.Trp1923Ter)
c.5757G>A (p.Trp1919Ter)
c.5730G>A (p.Trp1910Ter)
n.6314G>A
n.6288G>A
c.6084G>A (p.Trp2028Ter)
c.6078G>A (p.Trp2026Ter)
c.6075G>A (p.Trp2025Ter)
c.5970G>A (p.Trp1990Ter)
c.5967G>A (p.Trp1989Ter)
n.6073G>A
n.6014G>A
n.6059G>A
11g.77208746G>CCA381934347MYO7Ac.5994G>C (p.Trp1998Cys)
c.3795G>C
c.5847G>C (p.Trp1949Cys)
c.3420G>C (p.Trp1140Cys)
c.5880G>C (p.Trp1960Cys)
n.3530G>C
n.908G>C
c.5877G>C (p.Trp1959Cys)
c.5985G>C (p.Trp1995Cys)
c.5988G>C (p.Trp1996Cys)
c.5961G>C (p.Trp1987Cys)
c.5898G>C (p.Trp1966Cys)
c.5769G>C (p.Trp1923Cys)
c.5757G>C (p.Trp1919Cys)
c.5730G>C (p.Trp1910Cys)
n.6314G>C
n.6288G>C
c.6084G>C (p.Trp2028Cys)
c.6078G>C (p.Trp2026Cys)
c.6075G>C (p.Trp2025Cys)
c.5970G>C (p.Trp1990Cys)
c.5967G>C (p.Trp1989Cys)
n.6073G>C
n.6014G>C
n.6059G>C
 gnomAD v4
11g.77208746G>TCA381934350MYO7Ac.5994G>T (p.Trp1998Cys)
c.3795G>T
c.5847G>T (p.Trp1949Cys)
c.3420G>T (p.Trp1140Cys)
c.5880G>T (p.Trp1960Cys)
n.3530G>T
n.908G>T
c.5877G>T (p.Trp1959Cys)
c.5985G>T (p.Trp1995Cys)
c.5988G>T (p.Trp1996Cys)
c.5961G>T (p.Trp1987Cys)
c.5898G>T (p.Trp1966Cys)
c.5769G>T (p.Trp1923Cys)
c.5757G>T (p.Trp1919Cys)
c.5730G>T (p.Trp1910Cys)
n.6314G>T
n.6288G>T
c.6084G>T (p.Trp2028Cys)
c.6078G>T (p.Trp2026Cys)
c.6075G>T (p.Trp2025Cys)
c.5970G>T (p.Trp1990Cys)
c.5967G>T (p.Trp1989Cys)
n.6073G>T
n.6014G>T
n.6059G>T
 ClinVar gnomAD v4
11g.77208747delCA2574931876MYO7Ac.5995del (p.Thr1999ProfsTer?)
c.3796del
c.5848del (p.Thr1950ProfsTer?)
c.3421del (p.Thr1141ProfsTer?)
c.5881del (p.Thr1961ProfsTer?)
n.3531del
n.909del
c.5878del (p.Thr1960ProfsTer?)
c.5986del (p.Thr1996ProfsTer?)
c.5989del (p.Thr1997ProfsTer?)
c.5962del (p.Thr1988ProfsTer?)
c.5899del (p.Thr1967ProfsTer?)
c.5770del (p.Thr1924ProfsTer?)
c.5758del (p.Thr1920ProfsTer?)
c.5731del (p.Thr1911ProfsTer?)
n.6315del
n.6289del
c.6085del (p.Thr2029ProfsTer?)
c.6079del (p.Thr2027ProfsTer?)
c.6076del (p.Thr2026ProfsTer?)
c.5971del (p.Thr1991ProfsTer?)
c.5968del (p.Thr1990ProfsTer?)
n.6074del
n.6015del
n.6060del
11g.77208747A=CA1984128586MYO7Ac.5995A= (p.Thr1999=)
c.3796A=
c.5848A= (p.Thr1950=)
c.3421A= (p.Thr1141=)
c.5881A= (p.Thr1961=)
n.3531A=
n.909A=
c.5878A= (p.Thr1960=)
c.5986A= (p.Thr1996=)
c.5989A= (p.Thr1997=)
c.5962A= (p.Thr1988=)
c.5899A= (p.Thr1967=)
c.5770A= (p.Thr1924=)
c.5758A= (p.Thr1920=)
c.5731A= (p.Thr1911=)
n.6315A=
n.6289A=
c.6085A= (p.Thr2029=)
c.6079A= (p.Thr2027=)
c.6076A= (p.Thr2026=)
c.5971A= (p.Thr1991=)
c.5968A= (p.Thr1990=)
n.6074A=
n.6015A=
n.6060A=
11g.77208747A>CCA224825479MYO7Ac.5995A>C (p.Thr1999Pro)
c.3796A>C
c.5848A>C (p.Thr1950Pro)
c.3421A>C (p.Thr1141Pro)
c.5881A>C (p.Thr1961Pro)
n.3531A>C
n.909A>C
c.5878A>C (p.Thr1960Pro)
c.5986A>C (p.Thr1996Pro)
c.5989A>C (p.Thr1997Pro)
c.5962A>C (p.Thr1988Pro)
c.5899A>C (p.Thr1967Pro)
c.5770A>C (p.Thr1924Pro)
c.5758A>C (p.Thr1920Pro)
c.5731A>C (p.Thr1911Pro)
n.6315A>C
n.6289A>C
c.6085A>C (p.Thr2029Pro)
c.6079A>C (p.Thr2027Pro)
c.6076A>C (p.Thr2026Pro)
c.5971A>C (p.Thr1991Pro)
c.5968A>C (p.Thr1990Pro)
n.6074A>C
n.6015A>C
n.6060A>C
 dbSNP
11g.77208747A>GCA381934354MYO7Ac.5995A>G (p.Thr1999Ala)
c.3796A>G
c.5848A>G (p.Thr1950Ala)
c.3421A>G (p.Thr1141Ala)
c.5881A>G (p.Thr1961Ala)
n.3531A>G
n.909A>G
c.5878A>G (p.Thr1960Ala)
c.5986A>G (p.Thr1996Ala)
c.5989A>G (p.Thr1997Ala)
c.5962A>G (p.Thr1988Ala)
c.5899A>G (p.Thr1967Ala)
c.5770A>G (p.Thr1924Ala)
c.5758A>G (p.Thr1920Ala)
c.5731A>G (p.Thr1911Ala)
n.6315A>G
n.6289A>G
c.6085A>G (p.Thr2029Ala)
c.6079A>G (p.Thr2027Ala)
c.6076A>G (p.Thr2026Ala)
c.5971A>G (p.Thr1991Ala)
c.5968A>G (p.Thr1990Ala)
n.6074A>G
n.6015A>G
n.6060A>G
 dbSNP gnomAD v2 gnomAD v4
11g.77208747A>TCA381934357MYO7Ac.5995A>T (p.Thr1999Ser)
c.3796A>T
c.5848A>T (p.Thr1950Ser)
c.3421A>T (p.Thr1141Ser)
c.5881A>T (p.Thr1961Ser)
n.3531A>T
n.909A>T
c.5878A>T (p.Thr1960Ser)
c.5986A>T (p.Thr1996Ser)
c.5989A>T (p.Thr1997Ser)
c.5962A>T (p.Thr1988Ser)
c.5899A>T (p.Thr1967Ser)
c.5770A>T (p.Thr1924Ser)
c.5758A>T (p.Thr1920Ser)
c.5731A>T (p.Thr1911Ser)
n.6315A>T
n.6289A>T
c.6085A>T (p.Thr2029Ser)
c.6079A>T (p.Thr2027Ser)
c.6076A>T (p.Thr2026Ser)
c.5971A>T (p.Thr1991Ser)
c.5968A>T (p.Thr1990Ser)
n.6074A>T
n.6015A>T
n.6060A>T
11g.77208748C>ACA381934363MYO7Ac.5996C>A (p.Thr1999Asn)
c.3797C>A
c.5849C>A (p.Thr1950Asn)
c.3422C>A (p.Thr1141Asn)
c.5882C>A (p.Thr1961Asn)
n.3532C>A
n.910C>A
c.5879C>A (p.Thr1960Asn)
c.5987C>A (p.Thr1996Asn)
c.5990C>A (p.Thr1997Asn)
c.5963C>A (p.Thr1988Asn)
c.5900C>A (p.Thr1967Asn)
c.5771C>A (p.Thr1924Asn)
c.5759C>A (p.Thr1920Asn)
c.5732C>A (p.Thr1911Asn)
n.6316C>A
n.6290C>A
c.6086C>A (p.Thr2029Asn)
c.6080C>A (p.Thr2027Asn)
c.6077C>A (p.Thr2026Asn)
c.5972C>A (p.Thr1991Asn)
c.5969C>A (p.Thr1990Asn)
n.6075C>A
n.6016C>A
n.6061C>A
 gnomAD v4
11g.77208748C=CA1984128587MYO7Ac.5996C= (p.Thr1999=)
c.3797C=
c.5849C= (p.Thr1950=)
c.3422C= (p.Thr1141=)
c.5882C= (p.Thr1961=)
n.3532C=
n.910C=
c.5879C= (p.Thr1960=)
c.5987C= (p.Thr1996=)
c.5990C= (p.Thr1997=)
c.5963C= (p.Thr1988=)
c.5900C= (p.Thr1967=)
c.5771C= (p.Thr1924=)
c.5759C= (p.Thr1920=)
c.5732C= (p.Thr1911=)
n.6316C=
n.6290C=
c.6086C= (p.Thr2029=)
c.6080C= (p.Thr2027=)
c.6077C= (p.Thr2026=)
c.5972C= (p.Thr1991=)
c.5969C= (p.Thr1990=)
n.6075C=
n.6016C=
n.6061C=
11g.77208748C>GCA381934366MYO7Ac.5996C>G (p.Thr1999Ser)
c.3797C>G
c.5849C>G (p.Thr1950Ser)
c.3422C>G (p.Thr1141Ser)
c.5882C>G (p.Thr1961Ser)
n.3532C>G
n.910C>G
c.5879C>G (p.Thr1960Ser)
c.5987C>G (p.Thr1996Ser)
c.5990C>G (p.Thr1997Ser)
c.5963C>G (p.Thr1988Ser)
c.5900C>G (p.Thr1967Ser)
c.5771C>G (p.Thr1924Ser)
c.5759C>G (p.Thr1920Ser)
c.5732C>G (p.Thr1911Ser)
n.6316C>G
n.6290C>G
c.6086C>G (p.Thr2029Ser)
c.6080C>G (p.Thr2027Ser)
c.6077C>G (p.Thr2026Ser)
c.5972C>G (p.Thr1991Ser)
c.5969C>G (p.Thr1990Ser)
n.6075C>G
n.6016C>G
n.6061C>G
11g.77208748C>TCA6198896MYO7Ac.5996C>T (p.Thr1999Ile)
c.3797C>T
c.5849C>T (p.Thr1950Ile)
c.3422C>T (p.Thr1141Ile)
c.5882C>T (p.Thr1961Ile)
n.3532C>T
n.910C>T
c.5879C>T (p.Thr1960Ile)
c.5987C>T (p.Thr1996Ile)
c.5990C>T (p.Thr1997Ile)
c.5963C>T (p.Thr1988Ile)
c.5900C>T (p.Thr1967Ile)
c.5771C>T (p.Thr1924Ile)
c.5759C>T (p.Thr1920Ile)
c.5732C>T (p.Thr1911Ile)
n.6316C>T
n.6290C>T
c.6086C>T (p.Thr2029Ile)
c.6080C>T (p.Thr2027Ile)
c.6077C>T (p.Thr2026Ile)
c.5972C>T (p.Thr1991Ile)
c.5969C>T (p.Thr1990Ile)
n.6075C>T
n.6016C>T
n.6061C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77208749C>ACA475791687MYO7Ac.5997C>A (p.Thr1999=)
c.3798C>A
c.5850C>A (p.Thr1950=)
c.3423C>A (p.Thr1141=)
c.5883C>A (p.Thr1961=)
n.3533C>A
n.911C>A
c.5880C>A (p.Thr1960=)
c.5988C>A (p.Thr1996=)
c.5991C>A (p.Thr1997=)
c.5964C>A (p.Thr1988=)
c.5901C>A (p.Thr1967=)
c.5772C>A (p.Thr1924=)
c.5760C>A (p.Thr1920=)
c.5733C>A (p.Thr1911=)
n.6317C>A
n.6291C>A
c.6087C>A (p.Thr2029=)
c.6081C>A (p.Thr2027=)
c.6078C>A (p.Thr2026=)
c.5973C>A (p.Thr1991=)
c.5970C>A (p.Thr1990=)
n.6076C>A
n.6017C>A
n.6062C>A
 gnomAD v4
11g.77208749C=CA1984128588MYO7Ac.5997C= (p.Thr1999=)
c.3798C=
c.5850C= (p.Thr1950=)
c.3423C= (p.Thr1141=)
c.5883C= (p.Thr1961=)
n.3533C=
n.911C=
c.5880C= (p.Thr1960=)
c.5988C= (p.Thr1996=)
c.5991C= (p.Thr1997=)
c.5964C= (p.Thr1988=)
c.5901C= (p.Thr1967=)
c.5772C= (p.Thr1924=)
c.5760C= (p.Thr1920=)
c.5733C= (p.Thr1911=)
n.6317C=
n.6291C=
c.6087C= (p.Thr2029=)
c.6081C= (p.Thr2027=)
c.6078C= (p.Thr2026=)
c.5973C= (p.Thr1991=)
c.5970C= (p.Thr1990=)
n.6076C=
n.6017C=
n.6062C=
11g.77208749C>GCA475791688MYO7Ac.5997C>G (p.Thr1999=)
c.3798C>G
c.5850C>G (p.Thr1950=)
c.3423C>G (p.Thr1141=)
c.5883C>G (p.Thr1961=)
n.3533C>G
n.911C>G
c.5880C>G (p.Thr1960=)
c.5988C>G (p.Thr1996=)
c.5991C>G (p.Thr1997=)
c.5964C>G (p.Thr1988=)
c.5901C>G (p.Thr1967=)
c.5772C>G (p.Thr1924=)
c.5760C>G (p.Thr1920=)
c.5733C>G (p.Thr1911=)
n.6317C>G
n.6291C>G
c.6087C>G (p.Thr2029=)
c.6081C>G (p.Thr2027=)
c.6078C>G (p.Thr2026=)
c.5973C>G (p.Thr1991=)
c.5970C>G (p.Thr1990=)
n.6076C>G
n.6017C>G
n.6062C>G
11g.77208749C>TCA475791689MYO7Ac.5997C>T (p.Thr1999=)
c.3798C>T
c.5850C>T (p.Thr1950=)
c.3423C>T (p.Thr1141=)
c.5883C>T (p.Thr1961=)
n.3533C>T
n.911C>T
c.5880C>T (p.Thr1960=)
c.5988C>T (p.Thr1996=)
c.5991C>T (p.Thr1997=)
c.5964C>T (p.Thr1988=)
c.5901C>T (p.Thr1967=)
c.5772C>T (p.Thr1924=)
c.5760C>T (p.Thr1920=)
c.5733C>T (p.Thr1911=)
n.6317C>T
n.6291C>T
c.6087C>T (p.Thr2029=)
c.6081C>T (p.Thr2027=)
c.6078C>T (p.Thr2026=)
c.5973C>T (p.Thr1991=)
c.5970C>T (p.Thr1990=)
n.6076C>T
n.6017C>T
n.6062C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77208750A>CCA381934368MYO7Ac.5998A>C (p.Thr2000Pro)
c.3799A>C
c.5851A>C (p.Thr1951Pro)
c.3424A>C (p.Thr1142Pro)
c.5884A>C (p.Thr1962Pro)
n.3534A>C
n.912A>C
c.5881A>C (p.Thr1961Pro)
c.5989A>C (p.Thr1997Pro)
c.5992A>C (p.Thr1998Pro)
c.5965A>C (p.Thr1989Pro)
c.5902A>C (p.Thr1968Pro)
c.5773A>C (p.Thr1925Pro)
c.5761A>C (p.Thr1921Pro)
c.5734A>C (p.Thr1912Pro)
n.6318A>C
n.6292A>C
c.6088A>C (p.Thr2030Pro)
c.6082A>C (p.Thr2028Pro)
c.6079A>C (p.Thr2027Pro)
c.5974A>C (p.Thr1992Pro)
c.5971A>C (p.Thr1991Pro)
n.6077A>C
n.6018A>C
n.6063A>C
11g.77208750A>GCA381934376MYO7Ac.5998A>G (p.Thr2000Ala)
c.3799A>G
c.5851A>G (p.Thr1951Ala)
c.3424A>G (p.Thr1142Ala)
c.5884A>G (p.Thr1962Ala)
n.3534A>G
n.912A>G
c.5881A>G (p.Thr1961Ala)
c.5989A>G (p.Thr1997Ala)
c.5992A>G (p.Thr1998Ala)
c.5965A>G (p.Thr1989Ala)
c.5902A>G (p.Thr1968Ala)
c.5773A>G (p.Thr1925Ala)
c.5761A>G (p.Thr1921Ala)
c.5734A>G (p.Thr1912Ala)
n.6318A>G
n.6292A>G
c.6088A>G (p.Thr2030Ala)
c.6082A>G (p.Thr2028Ala)
c.6079A>G (p.Thr2027Ala)
c.5974A>G (p.Thr1992Ala)
c.5971A>G (p.Thr1991Ala)
n.6077A>G
n.6018A>G
n.6063A>G
11g.77208750A>TCA381934372MYO7Ac.5998A>T (p.Thr2000Ser)
c.3799A>T
c.5851A>T (p.Thr1951Ser)
c.3424A>T (p.Thr1142Ser)
c.5884A>T (p.Thr1962Ser)
n.3534A>T
n.912A>T
c.5881A>T (p.Thr1961Ser)
c.5989A>T (p.Thr1997Ser)
c.5992A>T (p.Thr1998Ser)
c.5965A>T (p.Thr1989Ser)
c.5902A>T (p.Thr1968Ser)
c.5773A>T (p.Thr1925Ser)
c.5761A>T (p.Thr1921Ser)
c.5734A>T (p.Thr1912Ser)
n.6318A>T
n.6292A>T
c.6088A>T (p.Thr2030Ser)
c.6082A>T (p.Thr2028Ser)
c.6079A>T (p.Thr2027Ser)
c.5974A>T (p.Thr1992Ser)
c.5971A>T (p.Thr1991Ser)
n.6077A>T
n.6018A>T
n.6063A>T
 gnomAD v4
11g.77208750_77208751delinsACCA1984128589MYO7Ac.5998_5999delinsAC (p.Thr2000=)
c.3799_3800delinsAC
c.5851_5852delinsAC (p.Thr1951=)
c.3424_3425delinsAC (p.Thr1142=)
c.5884_5885delinsAC (p.Thr1962=)
n.3534_3535delinsAC
n.912_913delinsAC
c.5881_5882delinsAC (p.Thr1961=)
c.5989_5990delinsAC (p.Thr1997=)
c.5992_5993delinsAC (p.Thr1998=)
c.5965_5966delinsAC (p.Thr1989=)
c.5902_5903delinsAC (p.Thr1968=)
c.5773_5774delinsAC (p.Thr1925=)
c.5761_5762delinsAC (p.Thr1921=)
c.5734_5735delinsAC (p.Thr1912=)
n.6318_6319delinsAC
n.6292_6293delinsAC
c.6088_6089delinsAC (p.Thr2030=)
c.6082_6083delinsAC (p.Thr2028=)
c.6079_6080delinsAC (p.Thr2027=)
c.5974_5975delinsAC (p.Thr1992=)
c.5971_5972delinsAC (p.Thr1991=)
n.6077_6078delinsAC
n.6018_6019delinsAC
n.6063_6064delinsAC
11g.77208751C>ACA381934380MYO7Ac.5999C>A (p.Thr2000Asn)
c.3800C>A
c.5852C>A (p.Thr1951Asn)
c.3425C>A (p.Thr1142Asn)
c.5885C>A (p.Thr1962Asn)
n.3535C>A
n.913C>A
c.5882C>A (p.Thr1961Asn)
c.5990C>A (p.Thr1997Asn)
c.5993C>A (p.Thr1998Asn)
c.5966C>A (p.Thr1989Asn)
c.5903C>A (p.Thr1968Asn)
c.5774C>A (p.Thr1925Asn)
c.5762C>A (p.Thr1921Asn)
c.5735C>A (p.Thr1912Asn)
n.6319C>A
n.6293C>A
c.6089C>A (p.Thr2030Asn)
c.6083C>A (p.Thr2028Asn)
c.6080C>A (p.Thr2027Asn)
c.5975C>A (p.Thr1992Asn)
c.5972C>A (p.Thr1991Asn)
n.6078C>A
n.6019C>A
n.6064C>A
 gnomAD v4
11g.77208751C>GCA381934387MYO7Ac.5999C>G (p.Thr2000Ser)
c.3800C>G
c.5852C>G (p.Thr1951Ser)
c.3425C>G (p.Thr1142Ser)
c.5885C>G (p.Thr1962Ser)
n.3535C>G
n.913C>G
c.5882C>G (p.Thr1961Ser)
c.5990C>G (p.Thr1997Ser)
c.5993C>G (p.Thr1998Ser)
c.5966C>G (p.Thr1989Ser)
c.5903C>G (p.Thr1968Ser)
c.5774C>G (p.Thr1925Ser)
c.5762C>G (p.Thr1921Ser)
c.5735C>G (p.Thr1912Ser)
n.6319C>G
n.6293C>G
c.6089C>G (p.Thr2030Ser)
c.6083C>G (p.Thr2028Ser)
c.6080C>G (p.Thr2027Ser)
c.5975C>G (p.Thr1992Ser)
c.5972C>G (p.Thr1991Ser)
n.6078C>G
n.6019C>G
n.6064C>G
11g.77208751C>TCA381934384MYO7Ac.5999C>T (p.Thr2000Ile)
c.3800C>T
c.5852C>T (p.Thr1951Ile)
c.3425C>T (p.Thr1142Ile)
c.5885C>T (p.Thr1962Ile)
n.3535C>T
n.913C>T
c.5882C>T (p.Thr1961Ile)
c.5990C>T (p.Thr1997Ile)
c.5993C>T (p.Thr1998Ile)
c.5966C>T (p.Thr1989Ile)
c.5903C>T (p.Thr1968Ile)
c.5774C>T (p.Thr1925Ile)
c.5762C>T (p.Thr1921Ile)
c.5735C>T (p.Thr1912Ile)
n.6319C>T
n.6293C>T
c.6089C>T (p.Thr2030Ile)
c.6083C>T (p.Thr2028Ile)
c.6080C>T (p.Thr2027Ile)
c.5975C>T (p.Thr1992Ile)
c.5972C>T (p.Thr1991Ile)
n.6078C>T
n.6019C>T
n.6064C>T
 gnomAD v4
11g.77208752delCA600710899MYO7Ac.6000del (p.Thr2001ArgfsTer?)
c.3801del
c.5853del (p.Thr1952ArgfsTer?)
c.3426del (p.Thr1143ArgfsTer?)
c.5886del (p.Thr1963ArgfsTer?)
n.3536del
n.914del
c.5883del (p.Thr1962ArgfsTer?)
c.5991del (p.Thr1998ArgfsTer?)
c.5994del (p.Thr1999ArgfsTer?)
c.5967del (p.Thr1990ArgfsTer?)
c.5904del (p.Thr1969ArgfsTer?)
c.5775del (p.Thr1926ArgfsTer?)
c.5763del (p.Thr1922ArgfsTer?)
c.5736del (p.Thr1913ArgfsTer?)
n.6320del
n.6294del
c.6090del (p.Thr2031ArgfsTer?)
c.6084del (p.Thr2029ArgfsTer?)
c.6081del (p.Thr2028ArgfsTer?)
c.5976del (p.Thr1993ArgfsTer?)
c.5973del (p.Thr1992ArgfsTer?)
n.6079del
n.6020del
n.6065del
 dbSNP gnomAD v2 gnomAD v4
11g.77208752C>ACA475791690MYO7Ac.6000C>A (p.Thr2000=)
c.3801C>A
c.5853C>A (p.Thr1951=)
c.3426C>A (p.Thr1142=)
c.5886C>A (p.Thr1962=)
n.3536C>A
n.914C>A
c.5883C>A (p.Thr1961=)
c.5991C>A (p.Thr1997=)
c.5994C>A (p.Thr1998=)
c.5967C>A (p.Thr1989=)
c.5904C>A (p.Thr1968=)
c.5775C>A (p.Thr1925=)
c.5763C>A (p.Thr1921=)
c.5736C>A (p.Thr1912=)
n.6320C>A
n.6294C>A
c.6090C>A (p.Thr2030=)
c.6084C>A (p.Thr2028=)
c.6081C>A (p.Thr2027=)
c.5976C>A (p.Thr1992=)
c.5973C>A (p.Thr1991=)
n.6079C>A
n.6020C>A
n.6065C>A
 gnomAD v4
11g.77208752C=CA1984128590MYO7Ac.6000C= (p.Thr2000=)
c.3801C=
c.5853C= (p.Thr1951=)
c.3426C= (p.Thr1142=)
c.5886C= (p.Thr1962=)
n.3536C=
n.914C=
c.5883C= (p.Thr1961=)
c.5991C= (p.Thr1997=)
c.5994C= (p.Thr1998=)
c.5967C= (p.Thr1989=)
c.5904C= (p.Thr1968=)
c.5775C= (p.Thr1925=)
c.5763C= (p.Thr1921=)
c.5736C= (p.Thr1912=)
n.6320C=
n.6294C=
c.6090C= (p.Thr2030=)
c.6084C= (p.Thr2028=)
c.6081C= (p.Thr2027=)
c.5976C= (p.Thr1992=)
c.5973C= (p.Thr1991=)
n.6079C=
n.6020C=
n.6065C=
11g.77208752C>GCA475791691MYO7Ac.6000C>G (p.Thr2000=)
c.3801C>G
c.5853C>G (p.Thr1951=)
c.3426C>G (p.Thr1142=)
c.5886C>G (p.Thr1962=)
n.3536C>G
n.914C>G
c.5883C>G (p.Thr1961=)
c.5991C>G (p.Thr1997=)
c.5994C>G (p.Thr1998=)
c.5967C>G (p.Thr1989=)
c.5904C>G (p.Thr1968=)
c.5775C>G (p.Thr1925=)
c.5763C>G (p.Thr1921=)
c.5736C>G (p.Thr1912=)
n.6320C>G
n.6294C>G
c.6090C>G (p.Thr2030=)
c.6084C>G (p.Thr2028=)
c.6081C>G (p.Thr2027=)
c.5976C>G (p.Thr1992=)
c.5973C>G (p.Thr1991=)
n.6079C>G
n.6020C>G
n.6065C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77208752C>TCA475791692MYO7Ac.6000C>T (p.Thr2000=)
c.3801C>T
c.5853C>T (p.Thr1951=)
c.3426C>T (p.Thr1142=)
c.5886C>T (p.Thr1962=)
n.3536C>T
n.914C>T
c.5883C>T (p.Thr1961=)
c.5991C>T (p.Thr1997=)
c.5994C>T (p.Thr1998=)
c.5967C>T (p.Thr1989=)
c.5904C>T (p.Thr1968=)
c.5775C>T (p.Thr1925=)
c.5763C>T (p.Thr1921=)
c.5736C>T (p.Thr1912=)
n.6320C>T
n.6294C>T
c.6090C>T (p.Thr2030=)
c.6084C>T (p.Thr2028=)
c.6081C>T (p.Thr2027=)
c.5976C>T (p.Thr1992=)
c.5973C>T (p.Thr1991=)
n.6079C>T
n.6020C>T
n.6065C>T
 dbSNP gnomAD v4 COSMIC
11g.77208753A>CCA381934390MYO7Ac.6001A>C (p.Thr2001Pro)
c.3802A>C
c.5854A>C (p.Thr1952Pro)
c.3427A>C (p.Thr1143Pro)
c.5887A>C (p.Thr1963Pro)
n.3537A>C
n.915A>C
c.5884A>C (p.Thr1962Pro)
c.5992A>C (p.Thr1998Pro)
c.5995A>C (p.Thr1999Pro)
c.5968A>C (p.Thr1990Pro)
c.5905A>C (p.Thr1969Pro)
c.5776A>C (p.Thr1926Pro)
c.5764A>C (p.Thr1922Pro)
c.5737A>C (p.Thr1913Pro)
n.6321A>C
n.6295A>C
c.6091A>C (p.Thr2031Pro)
c.6085A>C (p.Thr2029Pro)
c.6082A>C (p.Thr2028Pro)
c.5977A>C (p.Thr1993Pro)
c.5974A>C (p.Thr1992Pro)
n.6080A>C
n.6021A>C
n.6066A>C
11g.77208753A>GCA381934395MYO7Ac.6001A>G (p.Thr2001Ala)
c.3802A>G
c.5854A>G (p.Thr1952Ala)
c.3427A>G (p.Thr1143Ala)
c.5887A>G (p.Thr1963Ala)
n.3537A>G
n.915A>G
c.5884A>G (p.Thr1962Ala)
c.5992A>G (p.Thr1998Ala)
c.5995A>G (p.Thr1999Ala)
c.5968A>G (p.Thr1990Ala)
c.5905A>G (p.Thr1969Ala)
c.5776A>G (p.Thr1926Ala)
c.5764A>G (p.Thr1922Ala)
c.5737A>G (p.Thr1913Ala)
n.6321A>G
n.6295A>G
c.6091A>G (p.Thr2031Ala)
c.6085A>G (p.Thr2029Ala)
c.6082A>G (p.Thr2028Ala)
c.5977A>G (p.Thr1993Ala)
c.5974A>G (p.Thr1992Ala)
n.6080A>G
n.6021A>G
n.6066A>G
 gnomAD v4
11g.77208753A>TCA381934392MYO7Ac.6001A>T (p.Thr2001Ser)
c.3802A>T
c.5854A>T (p.Thr1952Ser)
c.3427A>T (p.Thr1143Ser)
c.5887A>T (p.Thr1963Ser)
n.3537A>T
n.915A>T
c.5884A>T (p.Thr1962Ser)
c.5992A>T (p.Thr1998Ser)
c.5995A>T (p.Thr1999Ser)
c.5968A>T (p.Thr1990Ser)
c.5905A>T (p.Thr1969Ser)
c.5776A>T (p.Thr1926Ser)
c.5764A>T (p.Thr1922Ser)
c.5737A>T (p.Thr1913Ser)
n.6321A>T
n.6295A>T
c.6091A>T (p.Thr2031Ser)
c.6085A>T (p.Thr2029Ser)
c.6082A>T (p.Thr2028Ser)
c.5977A>T (p.Thr1993Ser)
c.5974A>T (p.Thr1992Ser)
n.6080A>T
n.6021A>T
n.6066A>T
11g.77208754delCA2615256207MYO7Ac.6002del (p.Thr2001ArgfsTer?)
c.3803del
c.5855del (p.Thr1952ArgfsTer?)
c.3428del (p.Thr1143ArgfsTer?)
c.5888del (p.Thr1963ArgfsTer?)
n.3538del
n.916del
c.5885del (p.Thr1962ArgfsTer?)
c.5993del (p.Thr1998ArgfsTer?)
c.5996del (p.Thr1999ArgfsTer?)
c.5969del (p.Thr1990ArgfsTer?)
c.5906del (p.Thr1969ArgfsTer?)
c.5777del (p.Thr1926ArgfsTer?)
c.5765del (p.Thr1922ArgfsTer?)
c.5738del (p.Thr1913ArgfsTer?)
n.6322del
n.6296del
c.6092del (p.Thr2031ArgfsTer?)
c.6086del (p.Thr2029ArgfsTer?)
c.6083del (p.Thr2028ArgfsTer?)
c.5978del (p.Thr1993ArgfsTer?)
c.5975del (p.Thr1992ArgfsTer?)
n.6081del
n.6022del
n.6067del
 gnomAD v4
11g.77208754C>ACA381934399MYO7Ac.6002C>A (p.Thr2001Lys)
c.3803C>A
c.5855C>A (p.Thr1952Lys)
c.3428C>A (p.Thr1143Lys)
c.5888C>A (p.Thr1963Lys)
n.3538C>A
n.916C>A
c.5885C>A (p.Thr1962Lys)
c.5993C>A (p.Thr1998Lys)
c.5996C>A (p.Thr1999Lys)
c.5969C>A (p.Thr1990Lys)
c.5906C>A (p.Thr1969Lys)
c.5777C>A (p.Thr1926Lys)
c.5765C>A (p.Thr1922Lys)
c.5738C>A (p.Thr1913Lys)
n.6322C>A
n.6296C>A
c.6092C>A (p.Thr2031Lys)
c.6086C>A (p.Thr2029Lys)
c.6083C>A (p.Thr2028Lys)
c.5978C>A (p.Thr1993Lys)
c.5975C>A (p.Thr1992Lys)
n.6081C>A
n.6022C>A
n.6067C>A
 dbSNP gnomAD v4
11g.77208754C=CA1984128591MYO7Ac.6002C= (p.Thr2001=)
c.3803C=
c.5855C= (p.Thr1952=)
c.3428C= (p.Thr1143=)
c.5888C= (p.Thr1963=)
n.3538C=
n.916C=
c.5885C= (p.Thr1962=)
c.5993C= (p.Thr1998=)
c.5996C= (p.Thr1999=)
c.5969C= (p.Thr1990=)
c.5906C= (p.Thr1969=)
c.5777C= (p.Thr1926=)
c.5765C= (p.Thr1922=)
c.5738C= (p.Thr1913=)
n.6322C=
n.6296C=
c.6092C= (p.Thr2031=)
c.6086C= (p.Thr2029=)
c.6083C= (p.Thr2028=)
c.5978C= (p.Thr1993=)
c.5975C= (p.Thr1992=)
n.6081C=
n.6022C=
n.6067C=
11g.77208754C>GCA381934403MYO7Ac.6002C>G (p.Thr2001Arg)
c.3803C>G
c.5855C>G (p.Thr1952Arg)
c.3428C>G (p.Thr1143Arg)
c.5888C>G (p.Thr1963Arg)
n.3538C>G
n.916C>G
c.5885C>G (p.Thr1962Arg)
c.5993C>G (p.Thr1998Arg)
c.5996C>G (p.Thr1999Arg)
c.5969C>G (p.Thr1990Arg)
c.5906C>G (p.Thr1969Arg)
c.5777C>G (p.Thr1926Arg)
c.5765C>G (p.Thr1922Arg)
c.5738C>G (p.Thr1913Arg)
n.6322C>G
n.6296C>G
c.6092C>G (p.Thr2031Arg)
c.6086C>G (p.Thr2029Arg)
c.6083C>G (p.Thr2028Arg)
c.5978C>G (p.Thr1993Arg)
c.5975C>G (p.Thr1992Arg)
n.6081C>G
n.6022C>G
n.6067C>G
11g.77208754C>TCA6198897MYO7Ac.6002C>T (p.Thr2001Met)
c.3803C>T
c.5855C>T (p.Thr1952Met)
c.3428C>T (p.Thr1143Met)
c.5888C>T (p.Thr1963Met)
n.3538C>T
n.916C>T
c.5885C>T (p.Thr1962Met)
c.5993C>T (p.Thr1998Met)
c.5996C>T (p.Thr1999Met)
c.5969C>T (p.Thr1990Met)
c.5906C>T (p.Thr1969Met)
c.5777C>T (p.Thr1926Met)
c.5765C>T (p.Thr1922Met)
c.5738C>T (p.Thr1913Met)
n.6322C>T
n.6296C>T
c.6092C>T (p.Thr2031Met)
c.6086C>T (p.Thr2029Met)
c.6083C>T (p.Thr2028Met)
c.5978C>T (p.Thr1993Met)
c.5975C>T (p.Thr1992Met)
n.6081C>T
n.6022C>T
n.6067C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77208755G>ACA6198898MYO7Ac.6003G>A (p.Thr2001=)
c.3804G>A
c.5856G>A (p.Thr1952=)
c.3429G>A (p.Thr1143=)
c.5889G>A (p.Thr1963=)
n.3539G>A
n.917G>A
c.5886G>A (p.Thr1962=)
c.5994G>A (p.Thr1998=)
c.5997G>A (p.Thr1999=)
c.5970G>A (p.Thr1990=)
c.5907G>A (p.Thr1969=)
c.5778G>A (p.Thr1926=)
c.5766G>A (p.Thr1922=)
c.5739G>A (p.Thr1913=)
n.6323G>A
n.6297G>A
c.6093G>A (p.Thr2031=)
c.6087G>A (p.Thr2029=)
c.6084G>A (p.Thr2028=)
c.5979G>A (p.Thr1993=)
c.5976G>A (p.Thr1992=)
n.6082G>A
n.6023G>A
n.6068G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208755G>CCA475791693MYO7Ac.6003G>C (p.Thr2001=)
c.3804G>C
c.5856G>C (p.Thr1952=)
c.3429G>C (p.Thr1143=)
c.5889G>C (p.Thr1963=)
n.3539G>C
n.917G>C
c.5886G>C (p.Thr1962=)
c.5994G>C (p.Thr1998=)
c.5997G>C (p.Thr1999=)
c.5970G>C (p.Thr1990=)
c.5907G>C (p.Thr1969=)
c.5778G>C (p.Thr1926=)
c.5766G>C (p.Thr1922=)
c.5739G>C (p.Thr1913=)
n.6323G>C
n.6297G>C
c.6093G>C (p.Thr2031=)
c.6087G>C (p.Thr2029=)
c.6084G>C (p.Thr2028=)
c.5979G>C (p.Thr1993=)
c.5976G>C (p.Thr1992=)
n.6082G>C
n.6023G>C
n.6068G>C
11g.77208755G=CA1984128592MYO7Ac.6003G= (p.Thr2001=)
c.3804G=
c.5856G= (p.Thr1952=)
c.3429G= (p.Thr1143=)
c.5889G= (p.Thr1963=)
n.3539G=
n.917G=
c.5886G= (p.Thr1962=)
c.5994G= (p.Thr1998=)
c.5997G= (p.Thr1999=)
c.5970G= (p.Thr1990=)
c.5907G= (p.Thr1969=)
c.5778G= (p.Thr1926=)
c.5766G= (p.Thr1922=)
c.5739G= (p.Thr1913=)
n.6323G=
n.6297G=
c.6093G= (p.Thr2031=)
c.6087G= (p.Thr2029=)
c.6084G= (p.Thr2028=)
c.5979G= (p.Thr1993=)
c.5976G= (p.Thr1992=)
n.6082G=
n.6023G=
n.6068G=
11g.77208755G>TCA475791694MYO7Ac.6003G>T (p.Thr2001=)
c.3804G>T
c.5856G>T (p.Thr1952=)
c.3429G>T (p.Thr1143=)
c.5889G>T (p.Thr1963=)
n.3539G>T
n.917G>T
c.5886G>T (p.Thr1962=)
c.5994G>T (p.Thr1998=)
c.5997G>T (p.Thr1999=)
c.5970G>T (p.Thr1990=)
c.5907G>T (p.Thr1969=)
c.5778G>T (p.Thr1926=)
c.5766G>T (p.Thr1922=)
c.5739G>T (p.Thr1913=)
n.6323G>T
n.6297G>T
c.6093G>T (p.Thr2031=)
c.6087G>T (p.Thr2029=)
c.6084G>T (p.Thr2028=)
c.5979G>T (p.Thr1993=)
c.5976G>T (p.Thr1992=)
n.6082G>T
n.6023G>T
n.6068G>T
 gnomAD v4
11g.77208756G>ACA381934417MYO7Ac.6004G>A (p.Val2002Met)
c.3805G>A
c.5857G>A (p.Val1953Met)
c.3430G>A (p.Val1144Met)
c.5890G>A (p.Val1964Met)
n.3540G>A
n.918G>A
c.5887G>A (p.Val1963Met)
c.5995G>A (p.Val1999Met)
c.5998G>A (p.Val2000Met)
c.5971G>A (p.Val1991Met)
c.5908G>A (p.Val1970Met)
c.5779G>A (p.Val1927Met)
c.5767G>A (p.Val1923Met)
c.5740G>A (p.Val1914Met)
n.6324G>A
n.6298G>A
c.6094G>A (p.Val2032Met)
c.6088G>A (p.Val2030Met)
c.6085G>A (p.Val2029Met)
c.5980G>A (p.Val1994Met)
c.5977G>A (p.Val1993Met)
n.6083G>A
n.6024G>A
n.6069G>A
 gnomAD v4
11g.77208756G>CCA381934412MYO7Ac.6004G>C (p.Val2002Leu)
c.3805G>C
c.5857G>C (p.Val1953Leu)
c.3430G>C (p.Val1144Leu)
c.5890G>C (p.Val1964Leu)
n.3540G>C
n.918G>C
c.5887G>C (p.Val1963Leu)
c.5995G>C (p.Val1999Leu)
c.5998G>C (p.Val2000Leu)
c.5971G>C (p.Val1991Leu)
c.5908G>C (p.Val1970Leu)
c.5779G>C (p.Val1927Leu)
c.5767G>C (p.Val1923Leu)
c.5740G>C (p.Val1914Leu)
n.6324G>C
n.6298G>C
c.6094G>C (p.Val2032Leu)
c.6088G>C (p.Val2030Leu)
c.6085G>C (p.Val2029Leu)
c.5980G>C (p.Val1994Leu)
c.5977G>C (p.Val1993Leu)
n.6083G>C
n.6024G>C
n.6069G>C
11g.77208756G=CA1984128593MYO7Ac.6004G= (p.Val2002=)
c.3805G=
c.5857G= (p.Val1953=)
c.3430G= (p.Val1144=)
c.5890G= (p.Val1964=)
n.3540G=
n.918G=
c.5887G= (p.Val1963=)
c.5995G= (p.Val1999=)
c.5998G= (p.Val2000=)
c.5971G= (p.Val1991=)
c.5908G= (p.Val1970=)
c.5779G= (p.Val1927=)
c.5767G= (p.Val1923=)
c.5740G= (p.Val1914=)
n.6324G=
n.6298G=
c.6094G= (p.Val2032=)
c.6088G= (p.Val2030=)
c.6085G= (p.Val2029=)
c.5980G= (p.Val1994=)
c.5977G= (p.Val1993=)
n.6083G=
n.6024G=
n.6069G=
11g.77208756G>TCA381934414MYO7Ac.6004G>T (p.Val2002Leu)
c.3805G>T
c.5857G>T (p.Val1953Leu)
c.3430G>T (p.Val1144Leu)
c.5890G>T (p.Val1964Leu)
n.3540G>T
n.918G>T
c.5887G>T (p.Val1963Leu)
c.5995G>T (p.Val1999Leu)
c.5998G>T (p.Val2000Leu)
c.5971G>T (p.Val1991Leu)
c.5908G>T (p.Val1970Leu)
c.5779G>T (p.Val1927Leu)
c.5767G>T (p.Val1923Leu)
c.5740G>T (p.Val1914Leu)
n.6324G>T
n.6298G>T
c.6094G>T (p.Val2032Leu)
c.6088G>T (p.Val2030Leu)
c.6085G>T (p.Val2029Leu)
c.5980G>T (p.Val1994Leu)
c.5977G>T (p.Val1993Leu)
n.6083G>T
n.6024G>T
n.6069G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77208757T>ACA381934422MYO7Ac.6005T>A (p.Val2002Glu)
c.3806T>A
c.5858T>A (p.Val1953Glu)
c.3431T>A (p.Val1144Glu)
c.5891T>A (p.Val1964Glu)
n.3541T>A
n.919T>A
c.5888T>A (p.Val1963Glu)
c.5996T>A (p.Val1999Glu)
c.5999T>A (p.Val2000Glu)
c.5972T>A (p.Val1991Glu)
c.5909T>A (p.Val1970Glu)
c.5780T>A (p.Val1927Glu)
c.5768T>A (p.Val1923Glu)
c.5741T>A (p.Val1914Glu)
n.6325T>A
n.6299T>A
c.6095T>A (p.Val2032Glu)
c.6089T>A (p.Val2030Glu)
c.6086T>A (p.Val2029Glu)
c.5981T>A (p.Val1994Glu)
c.5978T>A (p.Val1993Glu)
n.6084T>A
n.6025T>A
n.6070T>A
11g.77208757T>CCA381934424MYO7Ac.6005T>C (p.Val2002Ala)
c.3806T>C
c.5858T>C (p.Val1953Ala)
c.3431T>C (p.Val1144Ala)
c.5891T>C (p.Val1964Ala)
n.3541T>C
n.919T>C
c.5888T>C (p.Val1963Ala)
c.5996T>C (p.Val1999Ala)
c.5999T>C (p.Val2000Ala)
c.5972T>C (p.Val1991Ala)
c.5909T>C (p.Val1970Ala)
c.5780T>C (p.Val1927Ala)
c.5768T>C (p.Val1923Ala)
c.5741T>C (p.Val1914Ala)
n.6325T>C
n.6299T>C
c.6095T>C (p.Val2032Ala)
c.6089T>C (p.Val2030Ala)
c.6086T>C (p.Val2029Ala)
c.5981T>C (p.Val1994Ala)
c.5978T>C (p.Val1993Ala)
n.6084T>C
n.6025T>C
n.6070T>C
11g.77208757T>GCA381934427MYO7Ac.6005T>G (p.Val2002Gly)
c.3806T>G
c.5858T>G (p.Val1953Gly)
c.3431T>G (p.Val1144Gly)
c.5891T>G (p.Val1964Gly)
n.3541T>G
n.919T>G
c.5888T>G (p.Val1963Gly)
c.5996T>G (p.Val1999Gly)
c.5999T>G (p.Val2000Gly)
c.5972T>G (p.Val1991Gly)
c.5909T>G (p.Val1970Gly)
c.5780T>G (p.Val1927Gly)
c.5768T>G (p.Val1923Gly)
c.5741T>G (p.Val1914Gly)
n.6325T>G
n.6299T>G
c.6095T>G (p.Val2032Gly)
c.6089T>G (p.Val2030Gly)
c.6086T>G (p.Val2029Gly)
c.5981T>G (p.Val1994Gly)
c.5978T>G (p.Val1993Gly)
n.6084T>G
n.6025T>G
n.6070T>G
11g.77208758G>ACA475791696MYO7Ac.6006G>A (p.Val2002=)
c.3807G>A
c.5859G>A (p.Val1953=)
c.3432G>A (p.Val1144=)
c.5892G>A (p.Val1964=)
n.3542G>A
n.920G>A
c.5889G>A (p.Val1963=)
c.5997G>A (p.Val1999=)
c.6000G>A (p.Val2000=)
c.5973G>A (p.Val1991=)
c.5910G>A (p.Val1970=)
c.5781G>A (p.Val1927=)
c.5769G>A (p.Val1923=)
c.5742G>A (p.Val1914=)
n.6326G>A
n.6300G>A
c.6096G>A (p.Val2032=)
c.6090G>A (p.Val2030=)
c.6087G>A (p.Val2029=)
c.5982G>A (p.Val1994=)
c.5979G>A (p.Val1993=)
n.6085G>A
n.6026G>A
n.6071G>A
 gnomAD v4
11g.77208758G>CCA475791697MYO7Ac.6006G>C (p.Val2002=)
c.3807G>C
c.5859G>C (p.Val1953=)
c.3432G>C (p.Val1144=)
c.5892G>C (p.Val1964=)
n.3542G>C
n.920G>C
c.5889G>C (p.Val1963=)
c.5997G>C (p.Val1999=)
c.6000G>C (p.Val2000=)
c.5973G>C (p.Val1991=)
c.5910G>C (p.Val1970=)
c.5781G>C (p.Val1927=)
c.5769G>C (p.Val1923=)
c.5742G>C (p.Val1914=)
n.6326G>C
n.6300G>C
c.6096G>C (p.Val2032=)
c.6090G>C (p.Val2030=)
c.6087G>C (p.Val2029=)
c.5982G>C (p.Val1994=)
c.5979G>C (p.Val1993=)
n.6085G>C
n.6026G>C
n.6071G>C
11g.77208758G=CA1984128594MYO7Ac.6006G= (p.Val2002=)
c.3807G=
c.5859G= (p.Val1953=)
c.3432G= (p.Val1144=)
c.5892G= (p.Val1964=)
n.3542G=
n.920G=
c.5889G= (p.Val1963=)
c.5997G= (p.Val1999=)
c.6000G= (p.Val2000=)
c.5973G= (p.Val1991=)
c.5910G= (p.Val1970=)
c.5781G= (p.Val1927=)
c.5769G= (p.Val1923=)
c.5742G= (p.Val1914=)
n.6326G=
n.6300G=
c.6096G= (p.Val2032=)
c.6090G= (p.Val2030=)
c.6087G= (p.Val2029=)
c.5982G= (p.Val1994=)
c.5979G= (p.Val1993=)
n.6085G=
n.6026G=
n.6071G=
11g.77208758G>TCA475791695MYO7Ac.6006G>T (p.Val2002=)
c.3807G>T
c.5859G>T (p.Val1953=)
c.3432G>T (p.Val1144=)
c.5892G>T (p.Val1964=)
n.3542G>T
n.920G>T
c.5889G>T (p.Val1963=)
c.5997G>T (p.Val1999=)
c.6000G>T (p.Val2000=)
c.5973G>T (p.Val1991=)
c.5910G>T (p.Val1970=)
c.5781G>T (p.Val1927=)
c.5769G>T (p.Val1923=)
c.5742G>T (p.Val1914=)
n.6326G>T
n.6300G>T
c.6096G>T (p.Val2032=)
c.6090G>T (p.Val2030=)
c.6087G>T (p.Val2029=)
c.5982G>T (p.Val1994=)
c.5979G>T (p.Val1993=)
n.6085G>T
n.6026G>T
n.6071G>T
 ClinVar dbSNP gnomAD v4
11g.77208759C>ACA381934429MYO7Ac.6007C>A (p.Pro2003Thr)
c.3808C>A
c.5860C>A (p.Pro1954Thr)
c.3433C>A (p.Pro1145Thr)
c.5893C>A (p.Pro1965Thr)
n.3543C>A
n.921C>A
c.5890C>A (p.Pro1964Thr)
c.5998C>A (p.Pro2000Thr)
c.6001C>A (p.Pro2001Thr)
c.5974C>A (p.Pro1992Thr)
c.5911C>A (p.Pro1971Thr)
c.5782C>A (p.Pro1928Thr)
c.5770C>A (p.Pro1924Thr)
c.5743C>A (p.Pro1915Thr)
n.6327C>A
n.6301C>A
c.6097C>A (p.Pro2033Thr)
c.6091C>A (p.Pro2031Thr)
c.6088C>A (p.Pro2030Thr)
c.5983C>A (p.Pro1995Thr)
c.5980C>A (p.Pro1994Thr)
n.6086C>A
n.6027C>A
n.6072C>A
 gnomAD v4
11g.77208759C=CA1984128595MYO7Ac.6007C= (p.Pro2003=)
c.3808C=
c.5860C= (p.Pro1954=)
c.3433C= (p.Pro1145=)
c.5893C= (p.Pro1965=)
n.3543C=
n.921C=
c.5890C= (p.Pro1964=)
c.5998C= (p.Pro2000=)
c.6001C= (p.Pro2001=)
c.5974C= (p.Pro1992=)
c.5911C= (p.Pro1971=)
c.5782C= (p.Pro1928=)
c.5770C= (p.Pro1924=)
c.5743C= (p.Pro1915=)
n.6327C=
n.6301C=
c.6097C= (p.Pro2033=)
c.6091C= (p.Pro2031=)
c.6088C= (p.Pro2030=)
c.5983C= (p.Pro1995=)
c.5980C= (p.Pro1994=)
n.6086C=
n.6027C=
n.6072C=
11g.77208759C>GCA381934431MYO7Ac.6007C>G (p.Pro2003Ala)
c.3808C>G
c.5860C>G (p.Pro1954Ala)
c.3433C>G (p.Pro1145Ala)
c.5893C>G (p.Pro1965Ala)
n.3543C>G
n.921C>G
c.5890C>G (p.Pro1964Ala)
c.5998C>G (p.Pro2000Ala)
c.6001C>G (p.Pro2001Ala)
c.5974C>G (p.Pro1992Ala)
c.5911C>G (p.Pro1971Ala)
c.5782C>G (p.Pro1928Ala)
c.5770C>G (p.Pro1924Ala)
c.5743C>G (p.Pro1915Ala)
n.6327C>G
n.6301C>G
c.6097C>G (p.Pro2033Ala)
c.6091C>G (p.Pro2031Ala)
c.6088C>G (p.Pro2030Ala)
c.5983C>G (p.Pro1995Ala)
c.5980C>G (p.Pro1994Ala)
n.6086C>G
n.6027C>G
n.6072C>G
 dbSNP gnomAD v3 gnomAD v4
11g.77208759C>TCA381934434MYO7Ac.6007C>T (p.Pro2003Ser)
c.3808C>T
c.5860C>T (p.Pro1954Ser)
c.3433C>T (p.Pro1145Ser)
c.5893C>T (p.Pro1965Ser)
n.3543C>T
n.921C>T
c.5890C>T (p.Pro1964Ser)
c.5998C>T (p.Pro2000Ser)
c.6001C>T (p.Pro2001Ser)
c.5974C>T (p.Pro1992Ser)
c.5911C>T (p.Pro1971Ser)
c.5782C>T (p.Pro1928Ser)
c.5770C>T (p.Pro1924Ser)
c.5743C>T (p.Pro1915Ser)
n.6327C>T
n.6301C>T
c.6097C>T (p.Pro2033Ser)
c.6091C>T (p.Pro2031Ser)
c.6088C>T (p.Pro2030Ser)
c.5983C>T (p.Pro1995Ser)
c.5980C>T (p.Pro1994Ser)
n.6086C>T
n.6027C>T
n.6072C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77208760C>ACA381934437MYO7Ac.6008C>A (p.Pro2003Gln)
c.3809C>A
c.5861C>A (p.Pro1954Gln)
c.3434C>A (p.Pro1145Gln)
c.5894C>A (p.Pro1965Gln)
n.3544C>A
n.922C>A
c.5891C>A (p.Pro1964Gln)
c.5999C>A (p.Pro2000Gln)
c.6002C>A (p.Pro2001Gln)
c.5975C>A (p.Pro1992Gln)
c.5912C>A (p.Pro1971Gln)
c.5783C>A (p.Pro1928Gln)
c.5771C>A (p.Pro1924Gln)
c.5744C>A (p.Pro1915Gln)
n.6328C>A
n.6302C>A
c.6098C>A (p.Pro2033Gln)
c.6092C>A (p.Pro2031Gln)
c.6089C>A (p.Pro2030Gln)
c.5984C>A (p.Pro1995Gln)
c.5981C>A (p.Pro1994Gln)
n.6087C>A
n.6028C>A
n.6073C>A
 gnomAD v4
11g.77208760C=CA1984128596MYO7Ac.6008C= (p.Pro2003=)
c.3809C=
c.5861C= (p.Pro1954=)
c.3434C= (p.Pro1145=)
c.5894C= (p.Pro1965=)
n.3544C=
n.922C=
c.5891C= (p.Pro1964=)
c.5999C= (p.Pro2000=)
c.6002C= (p.Pro2001=)
c.5975C= (p.Pro1992=)
c.5912C= (p.Pro1971=)
c.5783C= (p.Pro1928=)
c.5771C= (p.Pro1924=)
c.5744C= (p.Pro1915=)
n.6328C=
n.6302C=
c.6098C= (p.Pro2033=)
c.6092C= (p.Pro2031=)
c.6089C= (p.Pro2030=)
c.5984C= (p.Pro1995=)
c.5981C= (p.Pro1994=)
n.6087C=
n.6028C=
n.6073C=
11g.77208760C>GCA381934440MYO7Ac.6008C>G (p.Pro2003Arg)
c.3809C>G
c.5861C>G (p.Pro1954Arg)
c.3434C>G (p.Pro1145Arg)
c.5894C>G (p.Pro1965Arg)
n.3544C>G
n.922C>G
c.5891C>G (p.Pro1964Arg)
c.5999C>G (p.Pro2000Arg)
c.6002C>G (p.Pro2001Arg)
c.5975C>G (p.Pro1992Arg)
c.5912C>G (p.Pro1971Arg)
c.5783C>G (p.Pro1928Arg)
c.5771C>G (p.Pro1924Arg)
c.5744C>G (p.Pro1915Arg)
n.6328C>G
n.6302C>G
c.6098C>G (p.Pro2033Arg)
c.6092C>G (p.Pro2031Arg)
c.6089C>G (p.Pro2030Arg)
c.5984C>G (p.Pro1995Arg)
c.5981C>G (p.Pro1994Arg)
n.6087C>G
n.6028C>G
n.6073C>G
 dbSNP gnomAD v3 gnomAD v4
11g.77208760C>TCA381934443MYO7Ac.6008C>T (p.Pro2003Leu)
c.3809C>T
c.5861C>T (p.Pro1954Leu)
c.3434C>T (p.Pro1145Leu)
c.5894C>T (p.Pro1965Leu)
n.3544C>T
n.922C>T
c.5891C>T (p.Pro1964Leu)
c.5999C>T (p.Pro2000Leu)
c.6002C>T (p.Pro2001Leu)
c.5975C>T (p.Pro1992Leu)
c.5912C>T (p.Pro1971Leu)
c.5783C>T (p.Pro1928Leu)
c.5771C>T (p.Pro1924Leu)
c.5744C>T (p.Pro1915Leu)
n.6328C>T
n.6302C>T
c.6098C>T (p.Pro2033Leu)
c.6092C>T (p.Pro2031Leu)
c.6089C>T (p.Pro2030Leu)
c.5984C>T (p.Pro1995Leu)
c.5981C>T (p.Pro1994Leu)
n.6087C>T
n.6028C>T
n.6073C>T
11g.77208761A>CCA475791700MYO7Ac.6009A>C (p.Pro2003=)
c.3810A>C
c.5862A>C (p.Pro1954=)
c.3435A>C (p.Pro1145=)
c.5895A>C (p.Pro1965=)
n.3545A>C
n.923A>C
c.5892A>C (p.Pro1964=)
c.6000A>C (p.Pro2000=)
c.6003A>C (p.Pro2001=)
c.5976A>C (p.Pro1992=)
c.5913A>C (p.Pro1971=)
c.5784A>C (p.Pro1928=)
c.5772A>C (p.Pro1924=)
c.5745A>C (p.Pro1915=)
n.6329A>C
n.6303A>C
c.6099A>C (p.Pro2033=)
c.6093A>C (p.Pro2031=)
c.6090A>C (p.Pro2030=)
c.5985A>C (p.Pro1995=)
c.5982A>C (p.Pro1994=)
n.6088A>C
n.6029A>C
n.6074A>C
11g.77208761A>GCA475791699MYO7Ac.6009A>G (p.Pro2003=)
c.3810A>G
c.5862A>G (p.Pro1954=)
c.3435A>G (p.Pro1145=)
c.5895A>G (p.Pro1965=)
n.3545A>G
n.923A>G
c.5892A>G (p.Pro1964=)
c.6000A>G (p.Pro2000=)
c.6003A>G (p.Pro2001=)
c.5976A>G (p.Pro1992=)
c.5913A>G (p.Pro1971=)
c.5784A>G (p.Pro1928=)
c.5772A>G (p.Pro1924=)
c.5745A>G (p.Pro1915=)
n.6329A>G
n.6303A>G
c.6099A>G (p.Pro2033=)
c.6093A>G (p.Pro2031=)
c.6090A>G (p.Pro2030=)
c.5985A>G (p.Pro1995=)
c.5982A>G (p.Pro1994=)
n.6088A>G
n.6029A>G
n.6074A>G
 gnomAD v4
11g.77208761A>TCA475791698MYO7Ac.6009A>T (p.Pro2003=)
c.3810A>T
c.5862A>T (p.Pro1954=)
c.3435A>T (p.Pro1145=)
c.5895A>T (p.Pro1965=)
n.3545A>T
n.923A>T
c.5892A>T (p.Pro1964=)
c.6000A>T (p.Pro2000=)
c.6003A>T (p.Pro2001=)
c.5976A>T (p.Pro1992=)
c.5913A>T (p.Pro1971=)
c.5784A>T (p.Pro1928=)
c.5772A>T (p.Pro1924=)
c.5745A>T (p.Pro1915=)
n.6329A>T
n.6303A>T
c.6099A>T (p.Pro2033=)
c.6093A>T (p.Pro2031=)
c.6090A>T (p.Pro2030=)
c.5985A>T (p.Pro1995=)
c.5982A>T (p.Pro1994=)
n.6088A>T
n.6029A>T
n.6074A>T
11g.77208762G>ACA381934464MYO7Ac.6010G>A (p.Gly2004Arg)
c.3811G>A
c.5863G>A (p.Gly1955Arg)
c.3436G>A (p.Gly1146Arg)
c.5896G>A (p.Gly1966Arg)
n.3546G>A
n.924G>A
c.5893G>A (p.Gly1965Arg)
c.6001G>A (p.Gly2001Arg)
c.6004G>A (p.Gly2002Arg)
c.5977G>A (p.Gly1993Arg)
c.5914G>A (p.Gly1972Arg)
c.5785G>A (p.Gly1929Arg)
c.5773G>A (p.Gly1925Arg)
c.5746G>A (p.Gly1916Arg)
n.6330G>A
n.6304G>A
c.6100G>A (p.Gly2034Arg)
c.6094G>A (p.Gly2032Arg)
c.6091G>A (p.Gly2031Arg)
c.5986G>A (p.Gly1996Arg)
c.5983G>A (p.Gly1995Arg)
n.6089G>A
n.6030G>A
n.6075G>A
11g.77208762G>CCA381934462MYO7Ac.6010G>C (p.Gly2004Arg)
c.3811G>C
c.5863G>C (p.Gly1955Arg)
c.3436G>C (p.Gly1146Arg)
c.5896G>C (p.Gly1966Arg)
n.3546G>C
n.924G>C
c.5893G>C (p.Gly1965Arg)
c.6001G>C (p.Gly2001Arg)
c.6004G>C (p.Gly2002Arg)
c.5977G>C (p.Gly1993Arg)
c.5914G>C (p.Gly1972Arg)
c.5785G>C (p.Gly1929Arg)
c.5773G>C (p.Gly1925Arg)
c.5746G>C (p.Gly1916Arg)
n.6330G>C
n.6304G>C
c.6100G>C (p.Gly2034Arg)
c.6094G>C (p.Gly2032Arg)
c.6091G>C (p.Gly2031Arg)
c.5986G>C (p.Gly1996Arg)
c.5983G>C (p.Gly1995Arg)
n.6089G>C
n.6030G>C
n.6075G>C
11g.77208762G>TCA381934447MYO7Ac.6010G>T (p.Gly2004Trp)
c.3811G>T
c.5863G>T (p.Gly1955Trp)
c.3436G>T (p.Gly1146Trp)
c.5896G>T (p.Gly1966Trp)
n.3546G>T
n.924G>T
c.5893G>T (p.Gly1965Trp)
c.6001G>T (p.Gly2001Trp)
c.6004G>T (p.Gly2002Trp)
c.5977G>T (p.Gly1993Trp)
c.5914G>T (p.Gly1972Trp)
c.5785G>T (p.Gly1929Trp)
c.5773G>T (p.Gly1925Trp)
c.5746G>T (p.Gly1916Trp)
n.6330G>T
n.6304G>T
c.6100G>T (p.Gly2034Trp)
c.6094G>T (p.Gly2032Trp)
c.6091G>T (p.Gly2031Trp)
c.5986G>T (p.Gly1996Trp)
c.5983G>T (p.Gly1995Trp)
n.6089G>T
n.6030G>T
n.6075G>T
 gnomAD v4
11g.77208764delCA2615256259MYO7Ac.6012del (p.Lys2005ArgfsTer?)
c.3813del
c.5865del (p.Lys1956ArgfsTer?)
c.3438del (p.Lys1147ArgfsTer?)
c.5898del (p.Lys1967ArgfsTer?)
n.3548del
n.926del
c.5895del (p.Lys1966ArgfsTer?)
c.6003del (p.Lys2002ArgfsTer?)
c.6006del (p.Lys2003ArgfsTer?)
c.5979del (p.Lys1994ArgfsTer?)
c.5916del (p.Lys1973ArgfsTer?)
c.5787del (p.Lys1930ArgfsTer?)
c.5775del (p.Lys1926ArgfsTer?)
c.5748del (p.Lys1917ArgfsTer?)
n.6332del
n.6306del
c.6102del (p.Lys2035ArgfsTer?)
c.6096del (p.Lys2033ArgfsTer?)
c.6093del (p.Lys2032ArgfsTer?)
c.5988del (p.Lys1997ArgfsTer?)
c.5985del (p.Lys1996ArgfsTer?)
n.6091del
n.6032del
n.6077del
 gnomAD v4
11g.77208763G>ACA224825523MYO7Ac.6011G>A (p.Gly2004Glu)
c.3812G>A
c.5864G>A (p.Gly1955Glu)
c.3437G>A (p.Gly1146Glu)
c.5897G>A (p.Gly1966Glu)
n.3547G>A
n.925G>A
c.5894G>A (p.Gly1965Glu)
c.6002G>A (p.Gly2001Glu)
c.6005G>A (p.Gly2002Glu)
c.5978G>A (p.Gly1993Glu)
c.5915G>A (p.Gly1972Glu)
c.5786G>A (p.Gly1929Glu)
c.5774G>A (p.Gly1925Glu)
c.5747G>A (p.Gly1916Glu)
n.6331G>A
n.6305G>A
c.6101G>A (p.Gly2034Glu)
c.6095G>A (p.Gly2032Glu)
c.6092G>A (p.Gly2031Glu)
c.5987G>A (p.Gly1996Glu)
c.5984G>A (p.Gly1995Glu)
n.6090G>A
n.6031G>A
n.6076G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.77208763G>CCA381934473MYO7Ac.6011G>C (p.Gly2004Ala)
c.3812G>C
c.5864G>C (p.Gly1955Ala)
c.3437G>C (p.Gly1146Ala)
c.5897G>C (p.Gly1966Ala)
n.3547G>C
n.925G>C
c.5894G>C (p.Gly1965Ala)
c.6002G>C (p.Gly2001Ala)
c.6005G>C (p.Gly2002Ala)
c.5978G>C (p.Gly1993Ala)
c.5915G>C (p.Gly1972Ala)
c.5786G>C (p.Gly1929Ala)
c.5774G>C (p.Gly1925Ala)
c.5747G>C (p.Gly1916Ala)
n.6331G>C
n.6305G>C
c.6101G>C (p.Gly2034Ala)
c.6095G>C (p.Gly2032Ala)
c.6092G>C (p.Gly2031Ala)
c.5987G>C (p.Gly1996Ala)
c.5984G>C (p.Gly1995Ala)
n.6090G>C
n.6031G>C
n.6076G>C
11g.77208763G=CA1984128597MYO7Ac.6011G= (p.Gly2004=)
c.3812G=
c.5864G= (p.Gly1955=)
c.3437G= (p.Gly1146=)
c.5897G= (p.Gly1966=)
n.3547G=
n.925G=
c.5894G= (p.Gly1965=)
c.6002G= (p.Gly2001=)
c.6005G= (p.Gly2002=)
c.5978G= (p.Gly1993=)
c.5915G= (p.Gly1972=)
c.5786G= (p.Gly1929=)
c.5774G= (p.Gly1925=)
c.5747G= (p.Gly1916=)
n.6331G=
n.6305G=
c.6101G= (p.Gly2034=)
c.6095G= (p.Gly2032=)
c.6092G= (p.Gly2031=)
c.5987G= (p.Gly1996=)
c.5984G= (p.Gly1995=)
n.6090G=
n.6031G=
n.6076G=
11g.77208763G>TCA381934476MYO7Ac.6011G>T (p.Gly2004Val)
c.3812G>T
c.5864G>T (p.Gly1955Val)
c.3437G>T (p.Gly1146Val)
c.5897G>T (p.Gly1966Val)
n.3547G>T
n.925G>T
c.5894G>T (p.Gly1965Val)
c.6002G>T (p.Gly2001Val)
c.6005G>T (p.Gly2002Val)
c.5978G>T (p.Gly1993Val)
c.5915G>T (p.Gly1972Val)
c.5786G>T (p.Gly1929Val)
c.5774G>T (p.Gly1925Val)
c.5747G>T (p.Gly1916Val)
n.6331G>T
n.6305G>T
c.6101G>T (p.Gly2034Val)
c.6095G>T (p.Gly2032Val)
c.6092G>T (p.Gly2031Val)
c.5987G>T (p.Gly1996Val)
c.5984G>T (p.Gly1995Val)
n.6090G>T
n.6031G>T
n.6076G>T
 gnomAD v4
11g.77208764G>ACA224825527MYO7Ac.6012G>A (p.Gly2004=)
c.3813G>A
c.5865G>A (p.Gly1955=)
c.3438G>A (p.Gly1146=)
c.5898G>A (p.Gly1966=)
n.3548G>A
n.926G>A
c.5895G>A (p.Gly1965=)
c.6003G>A (p.Gly2001=)
c.6006G>A (p.Gly2002=)
c.5979G>A (p.Gly1993=)
c.5916G>A (p.Gly1972=)
c.5787G>A (p.Gly1929=)
c.5775G>A (p.Gly1925=)
c.5748G>A (p.Gly1916=)
n.6332G>A
n.6306G>A
c.6102G>A (p.Gly2034=)
c.6096G>A (p.Gly2032=)
c.6093G>A (p.Gly2031=)
c.5988G>A (p.Gly1996=)
c.5985G>A (p.Gly1995=)
n.6091G>A
n.6032G>A
n.6077G>A
 dbSNP gnomAD v2 gnomAD v4
11g.77208764G>CCA475791702MYO7Ac.6012G>C (p.Gly2004=)
c.3813G>C
c.5865G>C (p.Gly1955=)
c.3438G>C (p.Gly1146=)
c.5898G>C (p.Gly1966=)
n.3548G>C
n.926G>C
c.5895G>C (p.Gly1965=)
c.6003G>C (p.Gly2001=)
c.6006G>C (p.Gly2002=)
c.5979G>C (p.Gly1993=)
c.5916G>C (p.Gly1972=)
c.5787G>C (p.Gly1929=)
c.5775G>C (p.Gly1925=)
c.5748G>C (p.Gly1916=)
n.6332G>C
n.6306G>C
c.6102G>C (p.Gly2034=)
c.6096G>C (p.Gly2032=)
c.6093G>C (p.Gly2031=)
c.5988G>C (p.Gly1996=)
c.5985G>C (p.Gly1995=)
n.6091G>C
n.6032G>C
n.6077G>C
11g.77208764G=CA1984128598MYO7Ac.6012G= (p.Gly2004=)
c.3813G=
c.5865G= (p.Gly1955=)
c.3438G= (p.Gly1146=)
c.5898G= (p.Gly1966=)
n.3548G=
n.926G=
c.5895G= (p.Gly1965=)
c.6003G= (p.Gly2001=)
c.6006G= (p.Gly2002=)
c.5979G= (p.Gly1993=)
c.5916G= (p.Gly1972=)
c.5787G= (p.Gly1929=)
c.5775G= (p.Gly1925=)
c.5748G= (p.Gly1916=)
n.6332G=
n.6306G=
c.6102G= (p.Gly2034=)
c.6096G= (p.Gly2032=)
c.6093G= (p.Gly2031=)
c.5988G= (p.Gly1996=)
c.5985G= (p.Gly1995=)
n.6091G=
n.6032G=
n.6077G=
11g.77208764G>TCA475791701MYO7Ac.6012G>T (p.Gly2004=)
c.3813G>T
c.5865G>T (p.Gly1955=)
c.3438G>T (p.Gly1146=)
c.5898G>T (p.Gly1966=)
n.3548G>T
n.926G>T
c.5895G>T (p.Gly1965=)
c.6003G>T (p.Gly2001=)
c.6006G>T (p.Gly2002=)
c.5979G>T (p.Gly1993=)
c.5916G>T (p.Gly1972=)
c.5787G>T (p.Gly1929=)
c.5775G>T (p.Gly1925=)
c.5748G>T (p.Gly1916=)
n.6332G>T
n.6306G>T
c.6102G>T (p.Gly2034=)
c.6096G>T (p.Gly2032=)
c.6093G>T (p.Gly2031=)
c.5988G>T (p.Gly1996=)
c.5985G>T (p.Gly1995=)
n.6091G>T
n.6032G>T
n.6077G>T
 gnomAD v4
11g.77208765A=CA1984128599MYO7Ac.6013A= (p.Lys2005=)
c.3814A=
c.5866A= (p.Lys1956=)
c.3439A= (p.Lys1147=)
c.5899A= (p.Lys1967=)
n.3549A=
n.927A=
c.5896A= (p.Lys1966=)
c.6004A= (p.Lys2002=)
c.6007A= (p.Lys2003=)
c.5980A= (p.Lys1994=)
c.5917A= (p.Lys1973=)
c.5788A= (p.Lys1930=)
c.5776A= (p.Lys1926=)
c.5749A= (p.Lys1917=)
n.6333A=
n.6307A=
c.6103A= (p.Lys2035=)
c.6097A= (p.Lys2033=)
c.6094A= (p.Lys2032=)
c.5989A= (p.Lys1997=)
c.5986A= (p.Lys1996=)
n.6092A=
n.6033A=
n.6078A=
11g.77208765A>CCA381934483MYO7Ac.6013A>C (p.Lys2005Gln)
c.3814A>C
c.5866A>C (p.Lys1956Gln)
c.3439A>C (p.Lys1147Gln)
c.5899A>C (p.Lys1967Gln)
n.3549A>C
n.927A>C
c.5896A>C (p.Lys1966Gln)
c.6004A>C (p.Lys2002Gln)
c.6007A>C (p.Lys2003Gln)
c.5980A>C (p.Lys1994Gln)
c.5917A>C (p.Lys1973Gln)
c.5788A>C (p.Lys1930Gln)
c.5776A>C (p.Lys1926Gln)
c.5749A>C (p.Lys1917Gln)
n.6333A>C
n.6307A>C
c.6103A>C (p.Lys2035Gln)
c.6097A>C (p.Lys2033Gln)
c.6094A>C (p.Lys2032Gln)
c.5989A>C (p.Lys1997Gln)
c.5986A>C (p.Lys1996Gln)
n.6092A>C
n.6033A>C
n.6078A>C
11g.77208765A>GCA132412MYO7Ac.6013A>G (p.Lys2005Glu)
c.3814A>G
c.5866A>G (p.Lys1956Glu)
c.3439A>G (p.Lys1147Glu)
c.5899A>G (p.Lys1967Glu)
n.3549A>G
n.927A>G
c.5896A>G (p.Lys1966Glu)
c.6004A>G (p.Lys2002Glu)
c.6007A>G (p.Lys2003Glu)
c.5980A>G (p.Lys1994Glu)
c.5917A>G (p.Lys1973Glu)
c.5788A>G (p.Lys1930Glu)
c.5776A>G (p.Lys1926Glu)
c.5749A>G (p.Lys1917Glu)
n.6333A>G
n.6307A>G
c.6103A>G (p.Lys2035Glu)
c.6097A>G (p.Lys2033Glu)
c.6094A>G (p.Lys2032Glu)
c.5989A>G (p.Lys1997Glu)
c.5986A>G (p.Lys1996Glu)
n.6092A>G
n.6033A>G
n.6078A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208765A>TCA381934488MYO7Ac.6013A>T (p.Lys2005Ter)
c.3814A>T
c.5866A>T (p.Lys1956Ter)
c.3439A>T (p.Lys1147Ter)
c.5899A>T (p.Lys1967Ter)
n.3549A>T
n.927A>T
c.5896A>T (p.Lys1966Ter)
c.6004A>T (p.Lys2002Ter)
c.6007A>T (p.Lys2003Ter)
c.5980A>T (p.Lys1994Ter)
c.5917A>T (p.Lys1973Ter)
c.5788A>T (p.Lys1930Ter)
c.5776A>T (p.Lys1926Ter)
c.5749A>T (p.Lys1917Ter)
n.6333A>T
n.6307A>T
c.6103A>T (p.Lys2035Ter)
c.6097A>T (p.Lys2033Ter)
c.6094A>T (p.Lys2032Ter)
c.5989A>T (p.Lys1997Ter)
c.5986A>T (p.Lys1996Ter)
n.6092A>T
n.6033A>T
n.6078A>T
 ClinVar dbSNP
11g.77208766delCA2615256281MYO7Ac.6014del (p.Lys2005ArgfsTer?)
c.3815del
c.5867del (p.Lys1956ArgfsTer?)
c.3440del (p.Lys1147ArgfsTer?)
c.5900del (p.Lys1967ArgfsTer?)
n.3550del
n.928del
c.5897del (p.Lys1966ArgfsTer?)
c.6005del (p.Lys2002ArgfsTer?)
c.6008del (p.Lys2003ArgfsTer?)
c.5981del (p.Lys1994ArgfsTer?)
c.5918del (p.Lys1973ArgfsTer?)
c.5789del (p.Lys1930ArgfsTer?)
c.5777del (p.Lys1926ArgfsTer?)
c.5750del (p.Lys1917ArgfsTer?)
n.6334del
n.6308del
c.6104del (p.Lys2035ArgfsTer?)
c.6098del (p.Lys2033ArgfsTer?)
c.6095del (p.Lys2032ArgfsTer?)
c.5990del (p.Lys1997ArgfsTer?)
c.5987del (p.Lys1996ArgfsTer?)
n.6093del
n.6034del
n.6079del
 gnomAD v4
11g.77208766A=CA1984128600MYO7Ac.6014A= (p.Lys2005=)
c.3815A=
c.5867A= (p.Lys1956=)
c.3440A= (p.Lys1147=)
c.5900A= (p.Lys1967=)
n.3550A=
n.928A=
c.5897A= (p.Lys1966=)
c.6005A= (p.Lys2002=)
c.6008A= (p.Lys2003=)
c.5981A= (p.Lys1994=)
c.5918A= (p.Lys1973=)
c.5789A= (p.Lys1930=)
c.5777A= (p.Lys1926=)
c.5750A= (p.Lys1917=)
n.6334A=
n.6308A=
c.6104A= (p.Lys2035=)
c.6098A= (p.Lys2033=)
c.6095A= (p.Lys2032=)
c.5990A= (p.Lys1997=)
c.5987A= (p.Lys1996=)
n.6093A=
n.6034A=
n.6079A=
11g.77208766A>CCA381934493MYO7Ac.6014A>C (p.Lys2005Thr)
c.3815A>C
c.5867A>C (p.Lys1956Thr)
c.3440A>C (p.Lys1147Thr)
c.5900A>C (p.Lys1967Thr)
n.3550A>C
n.928A>C
c.5897A>C (p.Lys1966Thr)
c.6005A>C (p.Lys2002Thr)
c.6008A>C (p.Lys2003Thr)
c.5981A>C (p.Lys1994Thr)
c.5918A>C (p.Lys1973Thr)
c.5789A>C (p.Lys1930Thr)
c.5777A>C (p.Lys1926Thr)
c.5750A>C (p.Lys1917Thr)
n.6334A>C
n.6308A>C
c.6104A>C (p.Lys2035Thr)
c.6098A>C (p.Lys2033Thr)
c.6095A>C (p.Lys2032Thr)
c.5990A>C (p.Lys1997Thr)
c.5987A>C (p.Lys1996Thr)
n.6093A>C
n.6034A>C
n.6079A>C
 gnomAD v4
11g.77208766A>GCA381934497MYO7Ac.6014A>G (p.Lys2005Arg)
c.3815A>G
c.5867A>G (p.Lys1956Arg)
c.3440A>G (p.Lys1147Arg)
c.5900A>G (p.Lys1967Arg)
n.3550A>G
n.928A>G
c.5897A>G (p.Lys1966Arg)
c.6005A>G (p.Lys2002Arg)
c.6008A>G (p.Lys2003Arg)
c.5981A>G (p.Lys1994Arg)
c.5918A>G (p.Lys1973Arg)
c.5789A>G (p.Lys1930Arg)
c.5777A>G (p.Lys1926Arg)
c.5750A>G (p.Lys1917Arg)
n.6334A>G
n.6308A>G
c.6104A>G (p.Lys2035Arg)
c.6098A>G (p.Lys2033Arg)
c.6095A>G (p.Lys2032Arg)
c.5990A>G (p.Lys1997Arg)
c.5987A>G (p.Lys1996Arg)
n.6093A>G
n.6034A>G
n.6079A>G
 dbSNP gnomAD v4
11g.77208766A>TCA381934498MYO7Ac.6014A>T (p.Lys2005Met)
c.3815A>T
c.5867A>T (p.Lys1956Met)
c.3440A>T (p.Lys1147Met)
c.5900A>T (p.Lys1967Met)
n.3550A>T
n.928A>T
c.5897A>T (p.Lys1966Met)
c.6005A>T (p.Lys2002Met)
c.6008A>T (p.Lys2003Met)
c.5981A>T (p.Lys1994Met)
c.5918A>T (p.Lys1973Met)
c.5789A>T (p.Lys1930Met)
c.5777A>T (p.Lys1926Met)
c.5750A>T (p.Lys1917Met)
n.6334A>T
n.6308A>T
c.6104A>T (p.Lys2035Met)
c.6098A>T (p.Lys2033Met)
c.6095A>T (p.Lys2032Met)
c.5990A>T (p.Lys1997Met)
c.5987A>T (p.Lys1996Met)
n.6093A>T
n.6034A>T
n.6079A>T
 gnomAD v4
11g.77208767G>ACA475791703MYO7Ac.6015G>A (p.Lys2005=)
c.3816G>A
c.5868G>A (p.Lys1956=)
c.3441G>A (p.Lys1147=)
c.5901G>A (p.Lys1967=)
n.3551G>A
n.929G>A
c.5898G>A (p.Lys1966=)
c.6006G>A (p.Lys2002=)
c.6009G>A (p.Lys2003=)
c.5982G>A (p.Lys1994=)
c.5919G>A (p.Lys1973=)
c.5790G>A (p.Lys1930=)
c.5778G>A (p.Lys1926=)
c.5751G>A (p.Lys1917=)
n.6335G>A
n.6309G>A
c.6105G>A (p.Lys2035=)
c.6099G>A (p.Lys2033=)
c.6096G>A (p.Lys2032=)
c.5991G>A (p.Lys1997=)
c.5988G>A (p.Lys1996=)
n.6094G>A
n.6035G>A
n.6080G>A
 gnomAD v4
11g.77208767G>CCA381934502MYO7Ac.6015G>C (p.Lys2005Asn)
c.3816G>C
c.5868G>C (p.Lys1956Asn)
c.3441G>C (p.Lys1147Asn)
c.5901G>C (p.Lys1967Asn)
n.3551G>C
n.929G>C
c.5898G>C (p.Lys1966Asn)
c.6006G>C (p.Lys2002Asn)
c.6009G>C (p.Lys2003Asn)
c.5982G>C (p.Lys1994Asn)
c.5919G>C (p.Lys1973Asn)
c.5790G>C (p.Lys1930Asn)
c.5778G>C (p.Lys1926Asn)
c.5751G>C (p.Lys1917Asn)
n.6335G>C
n.6309G>C
c.6105G>C (p.Lys2035Asn)
c.6099G>C (p.Lys2033Asn)
c.6096G>C (p.Lys2032Asn)
c.5991G>C (p.Lys1997Asn)
c.5988G>C (p.Lys1996Asn)
n.6094G>C
n.6035G>C
n.6080G>C
11g.77208767G>TCA381934505MYO7Ac.6015G>T (p.Lys2005Asn)
c.3816G>T
c.5868G>T (p.Lys1956Asn)
c.3441G>T (p.Lys1147Asn)
c.5901G>T (p.Lys1967Asn)
n.3551G>T
n.929G>T
c.5898G>T (p.Lys1966Asn)
c.6006G>T (p.Lys2002Asn)
c.6009G>T (p.Lys2003Asn)
c.5982G>T (p.Lys1994Asn)
c.5919G>T (p.Lys1973Asn)
c.5790G>T (p.Lys1930Asn)
c.5778G>T (p.Lys1926Asn)
c.5751G>T (p.Lys1917Asn)
n.6335G>T
n.6309G>T
c.6105G>T (p.Lys2035Asn)
c.6099G>T (p.Lys2033Asn)
c.6096G>T (p.Lys2032Asn)
c.5991G>T (p.Lys1997Asn)
c.5988G>T (p.Lys1996Asn)
n.6094G>T
n.6035G>T
n.6080G>T
 gnomAD v4
11g.77208768G>ACA381934517MYO7Ac.6016G>A (p.Asp2006Asn)
c.3817G>A
c.5869G>A (p.Asp1957Asn)
c.3442G>A (p.Asp1148Asn)
c.5902G>A (p.Asp1968Asn)
n.3552G>A
n.930G>A
c.5899G>A (p.Asp1967Asn)
c.6007G>A (p.Asp2003Asn)
c.6010G>A (p.Asp2004Asn)
c.5983G>A (p.Asp1995Asn)
c.5920G>A (p.Asp1974Asn)
c.5791G>A (p.Asp1931Asn)
c.5779G>A (p.Asp1927Asn)
c.5752G>A (p.Asp1918Asn)
n.6336G>A
n.6310G>A
c.6106G>A (p.Asp2036Asn)
c.6100G>A (p.Asp2034Asn)
c.6097G>A (p.Asp2033Asn)
c.5992G>A (p.Asp1998Asn)
c.5989G>A (p.Asp1997Asn)
n.6095G>A
n.6036G>A
n.6081G>A
 ClinVar dbSNP COSMIC
11g.77208768G>CCA381934514MYO7Ac.6016G>C (p.Asp2006His)
c.3817G>C
c.5869G>C (p.Asp1957His)
c.3442G>C (p.Asp1148His)
c.5902G>C (p.Asp1968His)
n.3552G>C
n.930G>C
c.5899G>C (p.Asp1967His)
c.6007G>C (p.Asp2003His)
c.6010G>C (p.Asp2004His)
c.5983G>C (p.Asp1995His)
c.5920G>C (p.Asp1974His)
c.5791G>C (p.Asp1931His)
c.5779G>C (p.Asp1927His)
c.5752G>C (p.Asp1918His)
n.6336G>C
n.6310G>C
c.6106G>C (p.Asp2036His)
c.6100G>C (p.Asp2034His)
c.6097G>C (p.Asp2033His)
c.5992G>C (p.Asp1998His)
c.5989G>C (p.Asp1997His)
n.6095G>C
n.6036G>C
n.6081G>C
11g.77208768G>TCA381934509MYO7Ac.6016G>T (p.Asp2006Tyr)
c.3817G>T
c.5869G>T (p.Asp1957Tyr)
c.3442G>T (p.Asp1148Tyr)
c.5902G>T (p.Asp1968Tyr)
n.3552G>T
n.930G>T
c.5899G>T (p.Asp1967Tyr)
c.6007G>T (p.Asp2003Tyr)
c.6010G>T (p.Asp2004Tyr)
c.5983G>T (p.Asp1995Tyr)
c.5920G>T (p.Asp1974Tyr)
c.5791G>T (p.Asp1931Tyr)
c.5779G>T (p.Asp1927Tyr)
c.5752G>T (p.Asp1918Tyr)
n.6336G>T
n.6310G>T
c.6106G>T (p.Asp2036Tyr)
c.6100G>T (p.Asp2034Tyr)
c.6097G>T (p.Asp2033Tyr)
c.5992G>T (p.Asp1998Tyr)
c.5989G>T (p.Asp1997Tyr)
n.6095G>T
n.6036G>T
n.6081G>T
 gnomAD v4
11g.77208769A>CCA381934520MYO7Ac.6017A>C (p.Asp2006Ala)
c.3818A>C
c.5870A>C (p.Asp1957Ala)
c.3443A>C (p.Asp1148Ala)
c.5903A>C (p.Asp1968Ala)
n.3553A>C
n.931A>C
c.5900A>C (p.Asp1967Ala)
c.6008A>C (p.Asp2003Ala)
c.6011A>C (p.Asp2004Ala)
c.5984A>C (p.Asp1995Ala)
c.5921A>C (p.Asp1974Ala)
c.5792A>C (p.Asp1931Ala)
c.5780A>C (p.Asp1927Ala)
c.5753A>C (p.Asp1918Ala)
n.6337A>C
n.6311A>C
c.6107A>C (p.Asp2036Ala)
c.6101A>C (p.Asp2034Ala)
c.6098A>C (p.Asp2033Ala)
c.5993A>C (p.Asp1998Ala)
c.5990A>C (p.Asp1997Ala)
n.6096A>C
n.6037A>C
n.6082A>C
11g.77208769A>GCA381934523MYO7Ac.6017A>G (p.Asp2006Gly)
c.3818A>G
c.5870A>G (p.Asp1957Gly)
c.3443A>G (p.Asp1148Gly)
c.5903A>G (p.Asp1968Gly)
n.3553A>G
n.931A>G
c.5900A>G (p.Asp1967Gly)
c.6008A>G (p.Asp2003Gly)
c.6011A>G (p.Asp2004Gly)
c.5984A>G (p.Asp1995Gly)
c.5921A>G (p.Asp1974Gly)
c.5792A>G (p.Asp1931Gly)
c.5780A>G (p.Asp1927Gly)
c.5753A>G (p.Asp1918Gly)
n.6337A>G
n.6311A>G
c.6107A>G (p.Asp2036Gly)
c.6101A>G (p.Asp2034Gly)
c.6098A>G (p.Asp2033Gly)
c.5993A>G (p.Asp1998Gly)
c.5990A>G (p.Asp1997Gly)
n.6096A>G
n.6037A>G
n.6082A>G
11g.77208769A>TCA381934525MYO7Ac.6017A>T (p.Asp2006Val)
c.3818A>T
c.5870A>T (p.Asp1957Val)
c.3443A>T (p.Asp1148Val)
c.5903A>T (p.Asp1968Val)
n.3553A>T
n.931A>T
c.5900A>T (p.Asp1967Val)
c.6008A>T (p.Asp2003Val)
c.6011A>T (p.Asp2004Val)
c.5984A>T (p.Asp1995Val)
c.5921A>T (p.Asp1974Val)
c.5792A>T (p.Asp1931Val)
c.5780A>T (p.Asp1927Val)
c.5753A>T (p.Asp1918Val)
n.6337A>T
n.6311A>T
c.6107A>T (p.Asp2036Val)
c.6101A>T (p.Asp2034Val)
c.6098A>T (p.Asp2033Val)
c.5993A>T (p.Asp1998Val)
c.5990A>T (p.Asp1997Val)
n.6096A>T
n.6037A>T
n.6082A>T
11g.77208769_77208770delCA2695215065MYO7Ac.6017_6018del (p.Asp2006AlafsTer?)
c.3818_3819del
c.5870_5871del (p.Asp1957AlafsTer?)
c.3443_3444del (p.Asp1148AlafsTer?)
c.5903_5904del (p.Asp1968AlafsTer?)
n.3553_3554del
n.931_932del
c.5900_5901del (p.Asp1967AlafsTer?)
c.6008_6009del (p.Asp2003AlafsTer?)
c.6011_6012del (p.Asp2004AlafsTer?)
c.5984_5985del (p.Asp1995AlafsTer?)
c.5921_5922del (p.Asp1974AlafsTer?)
c.5792_5793del (p.Asp1931AlafsTer?)
c.5780_5781del (p.Asp1927AlafsTer?)
c.5753_5754del (p.Asp1918AlafsTer?)
n.6337_6338del
n.6311_6312del
c.6107_6108del (p.Asp2036AlafsTer?)
c.6101_6102del (p.Asp2034AlafsTer?)
c.6098_6099del (p.Asp2033AlafsTer?)
c.5993_5994del (p.Asp1998AlafsTer?)
c.5990_5991del (p.Asp1997AlafsTer?)
n.6096_6097del
n.6037_6038del
n.6082_6083del
 ClinVar
11g.77208770T>ACA381934529MYO7Ac.6018T>A (p.Asp2006Glu)
c.3819T>A
c.5871T>A (p.Asp1957Glu)
c.3444T>A (p.Asp1148Glu)
c.5904T>A (p.Asp1968Glu)
n.3554T>A
n.932T>A
c.5901T>A (p.Asp1967Glu)
c.6009T>A (p.Asp2003Glu)
c.6012T>A (p.Asp2004Glu)
c.5985T>A (p.Asp1995Glu)
c.5922T>A (p.Asp1974Glu)
c.5793T>A (p.Asp1931Glu)
c.5781T>A (p.Asp1927Glu)
c.5754T>A (p.Asp1918Glu)
n.6338T>A
n.6312T>A
c.6108T>A (p.Asp2036Glu)
c.6102T>A (p.Asp2034Glu)
c.6099T>A (p.Asp2033Glu)
c.5994T>A (p.Asp1998Glu)
c.5991T>A (p.Asp1997Glu)
n.6097T>A
n.6038T>A
n.6083T>A
11g.77208770T>CCA475791704MYO7Ac.6018T>C (p.Asp2006=)
c.3819T>C
c.5871T>C (p.Asp1957=)
c.3444T>C (p.Asp1148=)
c.5904T>C (p.Asp1968=)
n.3554T>C
n.932T>C
c.5901T>C (p.Asp1967=)
c.6009T>C (p.Asp2003=)
c.6012T>C (p.Asp2004=)
c.5985T>C (p.Asp1995=)
c.5922T>C (p.Asp1974=)
c.5793T>C (p.Asp1931=)
c.5781T>C (p.Asp1927=)
c.5754T>C (p.Asp1918=)
n.6338T>C
n.6312T>C
c.6108T>C (p.Asp2036=)
c.6102T>C (p.Asp2034=)
c.6099T>C (p.Asp2033=)
c.5994T>C (p.Asp1998=)
c.5991T>C (p.Asp1997=)
n.6097T>C
n.6038T>C
n.6083T>C
 gnomAD v4
11g.77208770T>GCA381934532MYO7Ac.6018T>G (p.Asp2006Glu)
c.3819T>G
c.5871T>G (p.Asp1957Glu)
c.3444T>G (p.Asp1148Glu)
c.5904T>G (p.Asp1968Glu)
n.3554T>G
n.932T>G
c.5901T>G (p.Asp1967Glu)
c.6009T>G (p.Asp2003Glu)
c.6012T>G (p.Asp2004Glu)
c.5985T>G (p.Asp1995Glu)
c.5922T>G (p.Asp1974Glu)
c.5793T>G (p.Asp1931Glu)
c.5781T>G (p.Asp1927Glu)
c.5754T>G (p.Asp1918Glu)
n.6338T>G
n.6312T>G
c.6108T>G (p.Asp2036Glu)
c.6102T>G (p.Asp2034Glu)
c.6099T>G (p.Asp2033Glu)
c.5994T>G (p.Asp1998Glu)
c.5991T>G (p.Asp1997Glu)
n.6097T>G
n.6038T>G
n.6083T>G
11g.77208771C>ACA381934536MYO7Ac.6019C>A (p.Pro2007Thr)
c.3820C>A
c.5872C>A (p.Pro1958Thr)
c.3445C>A (p.Pro1149Thr)
c.5905C>A (p.Pro1969Thr)
n.3555C>A
n.933C>A
c.5902C>A (p.Pro1968Thr)
c.6010C>A (p.Pro2004Thr)
c.6013C>A (p.Pro2005Thr)
c.5986C>A (p.Pro1996Thr)
c.5923C>A (p.Pro1975Thr)
c.5794C>A (p.Pro1932Thr)
c.5782C>A (p.Pro1928Thr)
c.5755C>A (p.Pro1919Thr)
n.6339C>A
n.6313C>A
c.6109C>A (p.Pro2037Thr)
c.6103C>A (p.Pro2035Thr)
c.6100C>A (p.Pro2034Thr)
c.5995C>A (p.Pro1999Thr)
c.5992C>A (p.Pro1998Thr)
n.6098C>A
n.6039C>A
n.6084C>A
 gnomAD v4
11g.77208771C=CA1984128601MYO7Ac.6019C= (p.Pro2007=)
c.3820C=
c.5872C= (p.Pro1958=)
c.3445C= (p.Pro1149=)
c.5905C= (p.Pro1969=)
n.3555C=
n.933C=
c.5902C= (p.Pro1968=)
c.6010C= (p.Pro2004=)
c.6013C= (p.Pro2005=)
c.5986C= (p.Pro1996=)
c.5923C= (p.Pro1975=)
c.5794C= (p.Pro1932=)
c.5782C= (p.Pro1928=)
c.5755C= (p.Pro1919=)
n.6339C=
n.6313C=
c.6109C= (p.Pro2037=)
c.6103C= (p.Pro2035=)
c.6100C= (p.Pro2034=)
c.5995C= (p.Pro1999=)
c.5992C= (p.Pro1998=)
n.6098C=
n.6039C=
n.6084C=
11g.77208771C>GCA6198899MYO7Ac.6019C>G (p.Pro2007Ala)
c.3820C>G
c.5872C>G (p.Pro1958Ala)
c.3445C>G (p.Pro1149Ala)
c.5905C>G (p.Pro1969Ala)
n.3555C>G
n.933C>G
c.5902C>G (p.Pro1968Ala)
c.6010C>G (p.Pro2004Ala)
c.6013C>G (p.Pro2005Ala)
c.5986C>G (p.Pro1996Ala)
c.5923C>G (p.Pro1975Ala)
c.5794C>G (p.Pro1932Ala)
c.5782C>G (p.Pro1928Ala)
c.5755C>G (p.Pro1919Ala)
n.6339C>G
n.6313C>G
c.6109C>G (p.Pro2037Ala)
c.6103C>G (p.Pro2035Ala)
c.6100C>G (p.Pro2034Ala)
c.5995C>G (p.Pro1999Ala)
c.5992C>G (p.Pro1998Ala)
n.6098C>G
n.6039C>G
n.6084C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208771C>TCA381934542MYO7Ac.6019C>T (p.Pro2007Ser)
c.3820C>T
c.5872C>T (p.Pro1958Ser)
c.3445C>T (p.Pro1149Ser)
c.5905C>T (p.Pro1969Ser)
n.3555C>T
n.933C>T
c.5902C>T (p.Pro1968Ser)
c.6010C>T (p.Pro2004Ser)
c.6013C>T (p.Pro2005Ser)
c.5986C>T (p.Pro1996Ser)
c.5923C>T (p.Pro1975Ser)
c.5794C>T (p.Pro1932Ser)
c.5782C>T (p.Pro1928Ser)
c.5755C>T (p.Pro1919Ser)
n.6339C>T
n.6313C>T
c.6109C>T (p.Pro2037Ser)
c.6103C>T (p.Pro2035Ser)
c.6100C>T (p.Pro2034Ser)
c.5995C>T (p.Pro1999Ser)
c.5992C>T (p.Pro1998Ser)
n.6098C>T
n.6039C>T
n.6084C>T
11g.77208772C>ACA381934545MYO7Ac.6020C>A (p.Pro2007His)
c.3821C>A
c.5873C>A (p.Pro1958His)
c.3446C>A (p.Pro1149His)
c.5906C>A (p.Pro1969His)
n.3556C>A
n.934C>A
c.5903C>A (p.Pro1968His)
c.6011C>A (p.Pro2004His)
c.6014C>A (p.Pro2005His)
c.5987C>A (p.Pro1996His)
c.5924C>A (p.Pro1975His)
c.5795C>A (p.Pro1932His)
c.5783C>A (p.Pro1928His)
c.5756C>A (p.Pro1919His)
n.6340C>A
n.6314C>A
c.6110C>A (p.Pro2037His)
c.6104C>A (p.Pro2035His)
c.6101C>A (p.Pro2034His)
c.5996C>A (p.Pro1999His)
c.5993C>A (p.Pro1998His)
n.6099C>A
n.6040C>A
n.6085C>A
 gnomAD v4
11g.77208772C=CA1984128602MYO7Ac.6020C= (p.Pro2007=)
c.3821C=
c.5873C= (p.Pro1958=)
c.3446C= (p.Pro1149=)
c.5906C= (p.Pro1969=)
n.3556C=
n.934C=
c.5903C= (p.Pro1968=)
c.6011C= (p.Pro2004=)
c.6014C= (p.Pro2005=)
c.5987C= (p.Pro1996=)
c.5924C= (p.Pro1975=)
c.5795C= (p.Pro1932=)
c.5783C= (p.Pro1928=)
c.5756C= (p.Pro1919=)
n.6340C=
n.6314C=
c.6110C= (p.Pro2037=)
c.6104C= (p.Pro2035=)
c.6101C= (p.Pro2034=)
c.5996C= (p.Pro1999=)
c.5993C= (p.Pro1998=)
n.6099C=
n.6040C=
n.6085C=
11g.77208772C>GCA381934548MYO7Ac.6020C>G (p.Pro2007Arg)
c.3821C>G
c.5873C>G (p.Pro1958Arg)
c.3446C>G (p.Pro1149Arg)
c.5906C>G (p.Pro1969Arg)
n.3556C>G
n.934C>G
c.5903C>G (p.Pro1968Arg)
c.6011C>G (p.Pro2004Arg)
c.6014C>G (p.Pro2005Arg)
c.5987C>G (p.Pro1996Arg)
c.5924C>G (p.Pro1975Arg)
c.5795C>G (p.Pro1932Arg)
c.5783C>G (p.Pro1928Arg)
c.5756C>G (p.Pro1919Arg)
n.6340C>G
n.6314C>G
c.6110C>G (p.Pro2037Arg)
c.6104C>G (p.Pro2035Arg)
c.6101C>G (p.Pro2034Arg)
c.5996C>G (p.Pro1999Arg)
c.5993C>G (p.Pro1998Arg)
n.6099C>G
n.6040C>G
n.6085C>G
11g.77208772C>TCA381934551MYO7Ac.6020C>T (p.Pro2007Leu)
c.3821C>T
c.5873C>T (p.Pro1958Leu)
c.3446C>T (p.Pro1149Leu)
c.5906C>T (p.Pro1969Leu)
n.3556C>T
n.934C>T
c.5903C>T (p.Pro1968Leu)
c.6011C>T (p.Pro2004Leu)
c.6014C>T (p.Pro2005Leu)
c.5987C>T (p.Pro1996Leu)
c.5924C>T (p.Pro1975Leu)
c.5795C>T (p.Pro1932Leu)
c.5783C>T (p.Pro1928Leu)
c.5756C>T (p.Pro1919Leu)
n.6340C>T
n.6314C>T
c.6110C>T (p.Pro2037Leu)
c.6104C>T (p.Pro2035Leu)
c.6101C>T (p.Pro2034Leu)
c.5996C>T (p.Pro1999Leu)
c.5993C>T (p.Pro1998Leu)
n.6099C>T
n.6040C>T
n.6085C>T
 dbSNP gnomAD v2 gnomAD v4
11g.77208773C>ACA475791705MYO7Ac.6021C>A (p.Pro2007=)
c.3822C>A
c.5874C>A (p.Pro1958=)
c.3447C>A (p.Pro1149=)
c.5907C>A (p.Pro1969=)
n.3557C>A
n.935C>A
c.5904C>A (p.Pro1968=)
c.6012C>A (p.Pro2004=)
c.6015C>A (p.Pro2005=)
c.5988C>A (p.Pro1996=)
c.5925C>A (p.Pro1975=)
c.5796C>A (p.Pro1932=)
c.5784C>A (p.Pro1928=)
c.5757C>A (p.Pro1919=)
n.6341C>A
n.6315C>A
c.6111C>A (p.Pro2037=)
c.6105C>A (p.Pro2035=)
c.6102C>A (p.Pro2034=)
c.5997C>A (p.Pro1999=)
c.5994C>A (p.Pro1998=)
n.6100C>A
n.6041C>A
n.6086C>A
 gnomAD v4
11g.77208773C=CA1984128603MYO7Ac.6021C= (p.Pro2007=)
c.3822C=
c.5874C= (p.Pro1958=)
c.3447C= (p.Pro1149=)
c.5907C= (p.Pro1969=)
n.3557C=
n.935C=
c.5904C= (p.Pro1968=)
c.6012C= (p.Pro2004=)
c.6015C= (p.Pro2005=)
c.5988C= (p.Pro1996=)
c.5925C= (p.Pro1975=)
c.5796C= (p.Pro1932=)
c.5784C= (p.Pro1928=)
c.5757C= (p.Pro1919=)
n.6341C=
n.6315C=
c.6111C= (p.Pro2037=)
c.6105C= (p.Pro2035=)
c.6102C= (p.Pro2034=)
c.5997C= (p.Pro1999=)
c.5994C= (p.Pro1998=)
n.6100C=
n.6041C=
n.6086C=
11g.77208773C>GCA475791706MYO7Ac.6021C>G (p.Pro2007=)
c.3822C>G
c.5874C>G (p.Pro1958=)
c.3447C>G (p.Pro1149=)
c.5907C>G (p.Pro1969=)
n.3557C>G
n.935C>G
c.5904C>G (p.Pro1968=)
c.6012C>G (p.Pro2004=)
c.6015C>G (p.Pro2005=)
c.5988C>G (p.Pro1996=)
c.5925C>G (p.Pro1975=)
c.5796C>G (p.Pro1932=)
c.5784C>G (p.Pro1928=)
c.5757C>G (p.Pro1919=)
n.6341C>G
n.6315C>G
c.6111C>G (p.Pro2037=)
c.6105C>G (p.Pro2035=)
c.6102C>G (p.Pro2034=)
c.5997C>G (p.Pro1999=)
c.5994C>G (p.Pro1998=)
n.6100C>G
n.6041C>G
n.6086C>G
11g.77208773C>TCA6198900MYO7Ac.6021C>T (p.Pro2007=)
c.3822C>T
c.5874C>T (p.Pro1958=)
c.3447C>T (p.Pro1149=)
c.5907C>T (p.Pro1969=)
n.3557C>T
n.935C>T
c.5904C>T (p.Pro1968=)
c.6012C>T (p.Pro2004=)
c.6015C>T (p.Pro2005=)
c.5988C>T (p.Pro1996=)
c.5925C>T (p.Pro1975=)
c.5796C>T (p.Pro1932=)
c.5784C>T (p.Pro1928=)
c.5757C>T (p.Pro1919=)
n.6341C>T
n.6315C>T
c.6111C>T (p.Pro2037=)
c.6105C>T (p.Pro2035=)
c.6102C>T (p.Pro2034=)
c.5997C>T (p.Pro1999=)
c.5994C>T (p.Pro1998=)
n.6100C>T
n.6041C>T
n.6086C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208774A=CA1984128604MYO7Ac.6022A= (p.Met2008=)
c.3823A=
c.5875A= (p.Met1959=)
c.3448A= (p.Met1150=)
c.5908A= (p.Met1970=)
n.3558A=
n.936A=
c.5905A= (p.Met1969=)
c.6013A= (p.Met2005=)
c.6016A= (p.Met2006=)
c.5989A= (p.Met1997=)
c.5926A= (p.Met1976=)
c.5797A= (p.Met1933=)
c.5785A= (p.Met1929=)
c.5758A= (p.Met1920=)
n.6342A=
n.6316A=
c.6112A= (p.Met2038=)
c.6106A= (p.Met2036=)
c.6103A= (p.Met2035=)
c.5998A= (p.Met2000=)
c.5995A= (p.Met1999=)
n.6101A=
n.6042A=
n.6087A=
11g.77208774A>CCA381934565MYO7Ac.6022A>C (p.Met2008Leu)
c.3823A>C
c.5875A>C (p.Met1959Leu)
c.3448A>C (p.Met1150Leu)
c.5908A>C (p.Met1970Leu)
n.3558A>C
n.936A>C
c.5905A>C (p.Met1969Leu)
c.6013A>C (p.Met2005Leu)
c.6016A>C (p.Met2006Leu)
c.5989A>C (p.Met1997Leu)
c.5926A>C (p.Met1976Leu)
c.5797A>C (p.Met1933Leu)
c.5785A>C (p.Met1929Leu)
c.5758A>C (p.Met1920Leu)
n.6342A>C
n.6316A>C
c.6112A>C (p.Met2038Leu)
c.6106A>C (p.Met2036Leu)
c.6103A>C (p.Met2035Leu)
c.5998A>C (p.Met2000Leu)
c.5995A>C (p.Met1999Leu)
n.6101A>C
n.6042A>C
n.6087A>C
11g.77208774A>GCA6198901MYO7Ac.6022A>G (p.Met2008Val)
c.3823A>G
c.5875A>G (p.Met1959Val)
c.3448A>G (p.Met1150Val)
c.5908A>G (p.Met1970Val)
n.3558A>G
n.936A>G
c.5905A>G (p.Met1969Val)
c.6013A>G (p.Met2005Val)
c.6016A>G (p.Met2006Val)
c.5989A>G (p.Met1997Val)
c.5926A>G (p.Met1976Val)
c.5797A>G (p.Met1933Val)
c.5785A>G (p.Met1929Val)
c.5758A>G (p.Met1920Val)
n.6342A>G
n.6316A>G
c.6112A>G (p.Met2038Val)
c.6106A>G (p.Met2036Val)
c.6103A>G (p.Met2035Val)
c.5998A>G (p.Met2000Val)
c.5995A>G (p.Met1999Val)
n.6101A>G
n.6042A>G
n.6087A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208774A>TCA381934562MYO7Ac.6022A>T (p.Met2008Leu)
c.3823A>T
c.5875A>T (p.Met1959Leu)
c.3448A>T (p.Met1150Leu)
c.5908A>T (p.Met1970Leu)
n.3558A>T
n.936A>T
c.5905A>T (p.Met1969Leu)
c.6013A>T (p.Met2005Leu)
c.6016A>T (p.Met2006Leu)
c.5989A>T (p.Met1997Leu)
c.5926A>T (p.Met1976Leu)
c.5797A>T (p.Met1933Leu)
c.5785A>T (p.Met1929Leu)
c.5758A>T (p.Met1920Leu)
n.6342A>T
n.6316A>T
c.6112A>T (p.Met2038Leu)
c.6106A>T (p.Met2036Leu)
c.6103A>T (p.Met2035Leu)
c.5998A>T (p.Met2000Leu)
c.5995A>T (p.Met1999Leu)
n.6101A>T
n.6042A>T
n.6087A>T
11g.77208775T>ACA381934569MYO7Ac.6023T>A (p.Met2008Lys)
c.3824T>A
c.5876T>A (p.Met1959Lys)
c.3449T>A (p.Met1150Lys)
c.5909T>A (p.Met1970Lys)
n.3559T>A
n.937T>A
c.5906T>A (p.Met1969Lys)
c.6014T>A (p.Met2005Lys)
c.6017T>A (p.Met2006Lys)
c.5990T>A (p.Met1997Lys)
c.5927T>A (p.Met1976Lys)
c.5798T>A (p.Met1933Lys)
c.5786T>A (p.Met1929Lys)
c.5759T>A (p.Met1920Lys)
n.6343T>A
n.6317T>A
c.6113T>A (p.Met2038Lys)
c.6107T>A (p.Met2036Lys)
c.6104T>A (p.Met2035Lys)
c.5999T>A (p.Met2000Lys)
c.5996T>A (p.Met1999Lys)
n.6102T>A
n.6043T>A
n.6088T>A
11g.77208775T>CCA6198902MYO7Ac.6023T>C (p.Met2008Thr)
c.3824T>C
c.5876T>C (p.Met1959Thr)
c.3449T>C (p.Met1150Thr)
c.5909T>C (p.Met1970Thr)
n.3559T>C
n.937T>C
c.5906T>C (p.Met1969Thr)
c.6014T>C (p.Met2005Thr)
c.6017T>C (p.Met2006Thr)
c.5990T>C (p.Met1997Thr)
c.5927T>C (p.Met1976Thr)
c.5798T>C (p.Met1933Thr)
c.5786T>C (p.Met1929Thr)
c.5759T>C (p.Met1920Thr)
n.6343T>C
n.6317T>C
c.6113T>C (p.Met2038Thr)
c.6107T>C (p.Met2036Thr)
c.6104T>C (p.Met2035Thr)
c.5999T>C (p.Met2000Thr)
c.5996T>C (p.Met1999Thr)
n.6102T>C
n.6043T>C
n.6088T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208775T>GCA381934575MYO7Ac.6023T>G (p.Met2008Arg)
c.3824T>G
c.5876T>G (p.Met1959Arg)
c.3449T>G (p.Met1150Arg)
c.5909T>G (p.Met1970Arg)
n.3559T>G
n.937T>G
c.5906T>G (p.Met1969Arg)
c.6014T>G (p.Met2005Arg)
c.6017T>G (p.Met2006Arg)
c.5990T>G (p.Met1997Arg)
c.5927T>G (p.Met1976Arg)
c.5798T>G (p.Met1933Arg)
c.5786T>G (p.Met1929Arg)
c.5759T>G (p.Met1920Arg)
n.6343T>G
n.6317T>G
c.6113T>G (p.Met2038Arg)
c.6107T>G (p.Met2036Arg)
c.6104T>G (p.Met2035Arg)
c.5999T>G (p.Met2000Arg)
c.5996T>G (p.Met1999Arg)
n.6102T>G
n.6043T>G
n.6088T>G
11g.77208775T=CA1984128606MYO7Ac.6023T= (p.Met2008=)
c.3824T=
c.5876T= (p.Met1959=)
c.3449T= (p.Met1150=)
c.5909T= (p.Met1970=)
n.3559T=
n.937T=
c.5906T= (p.Met1969=)
c.6014T= (p.Met2005=)
c.6017T= (p.Met2006=)
c.5990T= (p.Met1997=)
c.5927T= (p.Met1976=)
c.5798T= (p.Met1933=)
c.5786T= (p.Met1929=)
c.5759T= (p.Met1920=)
n.6343T=
n.6317T=
c.6113T= (p.Met2038=)
c.6107T= (p.Met2036=)
c.6104T= (p.Met2035=)
c.5999T= (p.Met2000=)
c.5996T= (p.Met1999=)
n.6102T=
n.6043T=
n.6088T=
11g.77208775_77208776delinsTGCA1984128605MYO7Ac.6023_6024delinsTG (p.Met2008=)
c.3824_3825delinsTG
c.5876_5877delinsTG (p.Met1959=)
c.3449_3450delinsTG (p.Met1150=)
c.5909_5910delinsTG (p.Met1970=)
n.3559_3560delinsTG
n.937_938delinsTG
c.5906_5907delinsTG (p.Met1969=)
c.6014_6015delinsTG (p.Met2005=)
c.6017_6018delinsTG (p.Met2006=)
c.5990_5991delinsTG (p.Met1997=)
c.5927_5928delinsTG (p.Met1976=)
c.5798_5799delinsTG (p.Met1933=)
c.5786_5787delinsTG (p.Met1929=)
c.5759_5760delinsTG (p.Met1920=)
n.6343_6344delinsTG
n.6317_6318delinsTG
c.6113_6114delinsTG (p.Met2038=)
c.6107_6108delinsTG (p.Met2036=)
c.6104_6105delinsTG (p.Met2035=)
c.5999_6000delinsTG (p.Met2000=)
c.5996_5997delinsTG (p.Met1999=)
n.6102_6103delinsTG
n.6043_6044delinsTG
n.6088_6089delinsTG
11g.77208776G>ACA381934581MYO7Ac.6024G>A (p.Met2008Ile)
c.3825G>A
c.5877G>A (p.Met1959Ile)
c.3450G>A (p.Met1150Ile)
c.5910G>A (p.Met1970Ile)
n.3560G>A
n.938G>A
c.5907G>A (p.Met1969Ile)
c.6015G>A (p.Met2005Ile)
c.6018G>A (p.Met2006Ile)
c.5991G>A (p.Met1997Ile)
c.5928G>A (p.Met1976Ile)
c.5799G>A (p.Met1933Ile)
c.5787G>A (p.Met1929Ile)
c.5760G>A (p.Met1920Ile)
n.6344G>A
n.6318G>A
c.6114G>A (p.Met2038Ile)
c.6108G>A (p.Met2036Ile)
c.6105G>A (p.Met2035Ile)
c.6000G>A (p.Met2000Ile)
c.5997G>A (p.Met1999Ile)
n.6103G>A
n.6044G>A
n.6089G>A
 gnomAD v4
11g.77208776G>CCA381934585MYO7Ac.6024G>C (p.Met2008Ile)
c.3825G>C
c.5877G>C (p.Met1959Ile)
c.3450G>C (p.Met1150Ile)
c.5910G>C (p.Met1970Ile)
n.3560G>C
n.938G>C
c.5907G>C (p.Met1969Ile)
c.6015G>C (p.Met2005Ile)
c.6018G>C (p.Met2006Ile)
c.5991G>C (p.Met1997Ile)
c.5928G>C (p.Met1976Ile)
c.5799G>C (p.Met1933Ile)
c.5787G>C (p.Met1929Ile)
c.5760G>C (p.Met1920Ile)
n.6344G>C
n.6318G>C
c.6114G>C (p.Met2038Ile)
c.6108G>C (p.Met2036Ile)
c.6105G>C (p.Met2035Ile)
c.6000G>C (p.Met2000Ile)
c.5997G>C (p.Met1999Ile)
n.6103G>C
n.6044G>C
n.6089G>C
11g.77208776G>TCA381934587MYO7Ac.6024G>T (p.Met2008Ile)
c.3825G>T
c.5877G>T (p.Met1959Ile)
c.3450G>T (p.Met1150Ile)
c.5910G>T (p.Met1970Ile)
n.3560G>T
n.938G>T
c.5907G>T (p.Met1969Ile)
c.6015G>T (p.Met2005Ile)
c.6018G>T (p.Met2006Ile)
c.5991G>T (p.Met1997Ile)
c.5928G>T (p.Met1976Ile)
c.5799G>T (p.Met1933Ile)
c.5787G>T (p.Met1929Ile)
c.5760G>T (p.Met1920Ile)
n.6344G>T
n.6318G>T
c.6114G>T (p.Met2038Ile)
c.6108G>T (p.Met2036Ile)
c.6105G>T (p.Met2035Ile)
c.6000G>T (p.Met2000Ile)
c.5997G>T (p.Met1999Ile)
n.6103G>T
n.6044G>T
n.6089G>T
 gnomAD v4
11g.77208777delCA278702MYO7Ac.6025del (p.Ala2009ProfsTer?)
c.3826del
c.5878del (p.Ala1960ProfsTer?)
c.3451del (p.Ala1151ProfsTer?)
c.5911del (p.Ala1971ProfsTer?)
n.3561del
n.939del
c.5908del (p.Ala1970ProfsTer?)
c.6016del (p.Ala2006ProfsTer?)
c.6019del (p.Ala2007ProfsTer?)
c.5992del (p.Ala1998ProfsTer?)
c.5929del (p.Ala1977ProfsTer?)
c.5800del (p.Ala1934ProfsTer?)
c.5788del (p.Ala1930ProfsTer?)
c.5761del (p.Ala1921ProfsTer?)
n.6345del
n.6319del
c.6115del (p.Ala2039ProfsTer?)
c.6109del (p.Ala2037ProfsTer?)
c.6106del (p.Ala2036ProfsTer?)
c.6001del (p.Ala2001ProfsTer?)
c.5998del (p.Ala2000ProfsTer?)
n.6104del
n.6045del
n.6090del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77208777G>ACA132414MYO7Ac.6025G>A (p.Ala2009Thr)
c.3826G>A
c.5878G>A (p.Ala1960Thr)
c.3451G>A (p.Ala1151Thr)
c.5911G>A (p.Ala1971Thr)
n.3561G>A
n.939G>A
c.5908G>A (p.Ala1970Thr)
c.6016G>A (p.Ala2006Thr)
c.6019G>A (p.Ala2007Thr)
c.5992G>A (p.Ala1998Thr)
c.5929G>A (p.Ala1977Thr)
c.5800G>A (p.Ala1934Thr)
c.5788G>A (p.Ala1930Thr)
c.5761G>A (p.Ala1921Thr)
n.6345G>A
n.6319G>A
c.6115G>A (p.Ala2039Thr)
c.6109G>A (p.Ala2037Thr)
c.6106G>A (p.Ala2036Thr)
c.6001G>A (p.Ala2001Thr)
c.5998G>A (p.Ala2000Thr)
n.6104G>A
n.6045G>A
n.6090G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77208777G>CCA381934597MYO7Ac.6025G>C (p.Ala2009Pro)
c.3826G>C
c.5878G>C (p.Ala1960Pro)
c.3451G>C (p.Ala1151Pro)
c.5911G>C (p.Ala1971Pro)
n.3561G>C
n.939G>C
c.5908G>C (p.Ala1970Pro)
c.6016G>C (p.Ala2006Pro)
c.6019G>C (p.Ala2007Pro)
c.5992G>C (p.Ala1998Pro)
c.5929G>C (p.Ala1977Pro)
c.5800G>C (p.Ala1934Pro)
c.5788G>C (p.Ala1930Pro)
c.5761G>C (p.Ala1921Pro)
n.6345G>C
n.6319G>C
c.6115G>C (p.Ala2039Pro)
c.6109G>C (p.Ala2037Pro)
c.6106G>C (p.Ala2036Pro)
c.6001G>C (p.Ala2001Pro)
c.5998G>C (p.Ala2000Pro)
n.6104G>C
n.6045G>C
n.6090G>C
 gnomAD v4
11g.77208777G=CA1984128607MYO7Ac.6025G= (p.Ala2009=)
c.3826G=
c.5878G= (p.Ala1960=)
c.3451G= (p.Ala1151=)
c.5911G= (p.Ala1971=)
n.3561G=
n.939G=
c.5908G= (p.Ala1970=)
c.6016G= (p.Ala2006=)
c.6019G= (p.Ala2007=)
c.5992G= (p.Ala1998=)
c.5929G= (p.Ala1977=)
c.5800G= (p.Ala1934=)
c.5788G= (p.Ala1930=)
c.5761G= (p.Ala1921=)
n.6345G=
n.6319G=
c.6115G= (p.Ala2039=)
c.6109G= (p.Ala2037=)
c.6106G= (p.Ala2036=)
c.6001G= (p.Ala2001=)
c.5998G= (p.Ala2000=)
n.6104G=
n.6045G=
n.6090G=
11g.77208777G>TCA381934599MYO7Ac.6025G>T (p.Ala2009Ser)
c.3826G>T
c.5878G>T (p.Ala1960Ser)
c.3451G>T (p.Ala1151Ser)
c.5911G>T (p.Ala1971Ser)
n.3561G>T
n.939G>T
c.5908G>T (p.Ala1970Ser)
c.6016G>T (p.Ala2006Ser)
c.6019G>T (p.Ala2007Ser)
c.5992G>T (p.Ala1998Ser)
c.5929G>T (p.Ala1977Ser)
c.5800G>T (p.Ala1934Ser)
c.5788G>T (p.Ala1930Ser)
c.5761G>T (p.Ala1921Ser)
n.6345G>T
n.6319G>T
c.6115G>T (p.Ala2039Ser)
c.6109G>T (p.Ala2037Ser)
c.6106G>T (p.Ala2036Ser)
c.6001G>T (p.Ala2001Ser)
c.5998G>T (p.Ala2000Ser)
n.6104G>T
n.6045G>T
n.6090G>T
 gnomAD v4
11g.77208778C>ACA381934605MYO7Ac.6026C>A (p.Ala2009Asp)
c.3827C>A
c.5879C>A (p.Ala1960Asp)
c.3452C>A (p.Ala1151Asp)
c.5912C>A (p.Ala1971Asp)
n.3562C>A
n.940C>A
c.5909C>A (p.Ala1970Asp)
c.6017C>A (p.Ala2006Asp)
c.6020C>A (p.Ala2007Asp)
c.5993C>A (p.Ala1998Asp)
c.5930C>A (p.Ala1977Asp)
c.5801C>A (p.Ala1934Asp)
c.5789C>A (p.Ala1930Asp)
c.5762C>A (p.Ala1921Asp)
n.6346C>A
n.6320C>A
c.6116C>A (p.Ala2039Asp)
c.6110C>A (p.Ala2037Asp)
c.6107C>A (p.Ala2036Asp)
c.6002C>A (p.Ala2001Asp)
c.5999C>A (p.Ala2000Asp)
n.6105C>A
n.6046C>A
n.6091C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77208778C=CA1984128608MYO7Ac.6026C= (p.Ala2009=)
c.3827C=
c.5879C= (p.Ala1960=)
c.3452C= (p.Ala1151=)
c.5912C= (p.Ala1971=)
n.3562C=
n.940C=
c.5909C= (p.Ala1970=)
c.6017C= (p.Ala2006=)
c.6020C= (p.Ala2007=)
c.5993C= (p.Ala1998=)
c.5930C= (p.Ala1977=)
c.5801C= (p.Ala1934=)
c.5789C= (p.Ala1930=)
c.5762C= (p.Ala1921=)
n.6346C=
n.6320C=
c.6116C= (p.Ala2039=)
c.6110C= (p.Ala2037=)
c.6107C= (p.Ala2036=)
c.6002C= (p.Ala2001=)
c.5999C= (p.Ala2000=)
n.6105C=
n.6046C=
n.6091C=
11g.77208778C>GCA381934609MYO7Ac.6026C>G (p.Ala2009Gly)
c.3827C>G
c.5879C>G (p.Ala1960Gly)
c.3452C>G (p.Ala1151Gly)
c.5912C>G (p.Ala1971Gly)
n.3562C>G
n.940C>G
c.5909C>G (p.Ala1970Gly)
c.6017C>G (p.Ala2006Gly)
c.6020C>G (p.Ala2007Gly)
c.5993C>G (p.Ala1998Gly)
c.5930C>G (p.Ala1977Gly)
c.5801C>G (p.Ala1934Gly)
c.5789C>G (p.Ala1930Gly)
c.5762C>G (p.Ala1921Gly)
n.6346C>G
n.6320C>G
c.6116C>G (p.Ala2039Gly)
c.6110C>G (p.Ala2037Gly)
c.6107C>G (p.Ala2036Gly)
c.6002C>G (p.Ala2001Gly)
c.5999C>G (p.Ala2000Gly)
n.6105C>G
n.6046C>G
n.6091C>G
 gnomAD v4
11g.77208778C>TCA381934602MYO7Ac.6026C>T (p.Ala2009Val)
c.3827C>T
c.5879C>T (p.Ala1960Val)
c.3452C>T (p.Ala1151Val)
c.5912C>T (p.Ala1971Val)
n.3562C>T
n.940C>T
c.5909C>T (p.Ala1970Val)
c.6017C>T (p.Ala2006Val)
c.6020C>T (p.Ala2007Val)
c.5993C>T (p.Ala1998Val)
c.5930C>T (p.Ala1977Val)
c.5801C>T (p.Ala1934Val)
c.5789C>T (p.Ala1930Val)
c.5762C>T (p.Ala1921Val)
n.6346C>T
n.6320C>T
c.6116C>T (p.Ala2039Val)
c.6110C>T (p.Ala2037Val)
c.6107C>T (p.Ala2036Val)
c.6002C>T (p.Ala2001Val)
c.5999C>T (p.Ala2000Val)
n.6105C>T
n.6046C>T
n.6091C>T
 dbSNP gnomAD v2 gnomAD v4
11g.77208779C>ACA475791707MYO7Ac.6027C>A (p.Ala2009=)
c.3828C>A
c.5880C>A (p.Ala1960=)
c.3453C>A (p.Ala1151=)
c.5913C>A (p.Ala1971=)
n.3563C>A
n.941C>A
c.5910C>A (p.Ala1970=)
c.6018C>A (p.Ala2006=)
c.6021C>A (p.Ala2007=)
c.5994C>A (p.Ala1998=)
c.5931C>A (p.Ala1977=)
c.5802C>A (p.Ala1934=)
c.5790C>A (p.Ala1930=)
c.5763C>A (p.Ala1921=)
n.6347C>A
n.6321C>A
c.6117C>A (p.Ala2039=)
c.6111C>A (p.Ala2037=)
c.6108C>A (p.Ala2036=)
c.6003C>A (p.Ala2001=)
c.6000C>A (p.Ala2000=)
n.6106C>A
n.6047C>A
n.6092C>A
 gnomAD v4
11g.77208779C=CA1984128609MYO7Ac.6027C= (p.Ala2009=)
c.3828C=
c.5880C= (p.Ala1960=)
c.3453C= (p.Ala1151=)
c.5913C= (p.Ala1971=)
n.3563C=
n.941C=
c.5910C= (p.Ala1970=)
c.6018C= (p.Ala2006=)
c.6021C= (p.Ala2007=)
c.5994C= (p.Ala1998=)
c.5931C= (p.Ala1977=)
c.5802C= (p.Ala1934=)
c.5790C= (p.Ala1930=)
c.5763C= (p.Ala1921=)
n.6347C=
n.6321C=
c.6117C= (p.Ala2039=)
c.6111C= (p.Ala2037=)
c.6108C= (p.Ala2036=)
c.6003C= (p.Ala2001=)
c.6000C= (p.Ala2000=)
n.6106C=
n.6047C=
n.6092C=
11g.77208779C>GCA475791708MYO7Ac.6027C>G (p.Ala2009=)
c.3828C>G
c.5880C>G (p.Ala1960=)
c.3453C>G (p.Ala1151=)
c.5913C>G (p.Ala1971=)
n.3563C>G
n.941C>G
c.5910C>G (p.Ala1970=)
c.6018C>G (p.Ala2006=)
c.6021C>G (p.Ala2007=)
c.5994C>G (p.Ala1998=)
c.5931C>G (p.Ala1977=)
c.5802C>G (p.Ala1934=)
c.5790C>G (p.Ala1930=)
c.5763C>G (p.Ala1921=)
n.6347C>G
n.6321C>G
c.6117C>G (p.Ala2039=)
c.6111C>G (p.Ala2037=)
c.6108C>G (p.Ala2036=)
c.6003C>G (p.Ala2001=)
c.6000C>G (p.Ala2000=)
n.6106C>G
n.6047C>G
n.6092C>G
11g.77208779C>TCA6198903MYO7Ac.6027C>T (p.Ala2009=)
c.3828C>T
c.5880C>T (p.Ala1960=)
c.3453C>T (p.Ala1151=)
c.5913C>T (p.Ala1971=)
n.3563C>T
n.941C>T
c.5910C>T (p.Ala1970=)
c.6018C>T (p.Ala2006=)
c.6021C>T (p.Ala2007=)
c.5994C>T (p.Ala1998=)
c.5931C>T (p.Ala1977=)
c.5802C>T (p.Ala1934=)
c.5790C>T (p.Ala1930=)
c.5763C>T (p.Ala1921=)
n.6347C>T
n.6321C>T
c.6117C>T (p.Ala2039=)
c.6111C>T (p.Ala2037=)
c.6108C>T (p.Ala2036=)
c.6003C>T (p.Ala2001=)
c.6000C>T (p.Ala2000=)
n.6106C>T
n.6047C>T
n.6092C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208780G>ACA6198904MYO7Ac.6028G>A (p.Asp2010Asn)
c.3829G>A
c.5881G>A (p.Asp1961Asn)
c.3454G>A (p.Asp1152Asn)
c.5914G>A (p.Asp1972Asn)
n.3564G>A
n.942G>A
c.5911G>A (p.Asp1971Asn)
c.6019G>A (p.Asp2007Asn)
c.6022G>A (p.Asp2008Asn)
c.5995G>A (p.Asp1999Asn)
c.5932G>A (p.Asp1978Asn)
c.5803G>A (p.Asp1935Asn)
c.5791G>A (p.Asp1931Asn)
c.5764G>A (p.Asp1922Asn)
n.6348G>A
n.6322G>A
c.6118G>A (p.Asp2040Asn)
c.6112G>A (p.Asp2038Asn)
c.6109G>A (p.Asp2037Asn)
c.6004G>A (p.Asp2002Asn)
c.6001G>A (p.Asp2001Asn)
n.6107G>A
n.6048G>A
n.6093G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77208780G>CCA381934617MYO7Ac.6028G>C (p.Asp2010His)
c.3829G>C
c.5881G>C (p.Asp1961His)
c.3454G>C (p.Asp1152His)
c.5914G>C (p.Asp1972His)
n.3564G>C
n.942G>C
c.5911G>C (p.Asp1971His)
c.6019G>C (p.Asp2007His)
c.6022G>C (p.Asp2008His)
c.5995G>C (p.Asp1999His)
c.5932G>C (p.Asp1978His)
c.5803G>C (p.Asp1935His)
c.5791G>C (p.Asp1931His)
c.5764G>C (p.Asp1922His)
n.6348G>C
n.6322G>C
c.6118G>C (p.Asp2040His)
c.6112G>C (p.Asp2038His)
c.6109G>C (p.Asp2037His)
c.6004G>C (p.Asp2002His)
c.6001G>C (p.Asp2001His)
n.6107G>C
n.6048G>C
n.6093G>C
 gnomAD v4
11g.77208780G=CA1984128610MYO7Ac.6028G= (p.Asp2010=)
c.3829G=
c.5881G= (p.Asp1961=)
c.3454G= (p.Asp1152=)
c.5914G= (p.Asp1972=)
n.3564G=
n.942G=
c.5911G= (p.Asp1971=)
c.6019G= (p.Asp2007=)
c.6022G= (p.Asp2008=)
c.5995G= (p.Asp1999=)
c.5932G= (p.Asp1978=)
c.5803G= (p.Asp1935=)
c.5791G= (p.Asp1931=)
c.5764G= (p.Asp1922=)
n.6348G=
n.6322G=
c.6118G= (p.Asp2040=)
c.6112G= (p.Asp2038=)
c.6109G= (p.Asp2037=)
c.6004G= (p.Asp2002=)
c.6001G= (p.Asp2001=)
n.6107G=
n.6048G=
n.6093G=
11g.77208780G>TCA381934630MYO7Ac.6028G>T (p.Asp2010Tyr)
c.3829G>T
c.5881G>T (p.Asp1961Tyr)
c.3454G>T (p.Asp1152Tyr)
c.5914G>T (p.Asp1972Tyr)
n.3564G>T
n.942G>T
c.5911G>T (p.Asp1971Tyr)
c.6019G>T (p.Asp2007Tyr)
c.6022G>T (p.Asp2008Tyr)
c.5995G>T (p.Asp1999Tyr)
c.5932G>T (p.Asp1978Tyr)
c.5803G>T (p.Asp1935Tyr)
c.5791G>T (p.Asp1931Tyr)
c.5764G>T (p.Asp1922Tyr)
n.6348G>T
n.6322G>T
c.6118G>T (p.Asp2040Tyr)
c.6112G>T (p.Asp2038Tyr)
c.6109G>T (p.Asp2037Tyr)
c.6004G>T (p.Asp2002Tyr)
c.6001G>T (p.Asp2001Tyr)
n.6107G>T
n.6048G>T
n.6093G>T
 ClinVar dbSNP gnomAD v4
11g.77208781A=CA1984128611MYO7Ac.6029A= (p.Asp2010=)
c.3830A=
c.5882A= (p.Asp1961=)
c.3455A= (p.Asp1152=)
c.5915A= (p.Asp1972=)
n.3565A=
n.943A=
c.5912A= (p.Asp1971=)
c.6020A= (p.Asp2007=)
c.6023A= (p.Asp2008=)
c.5996A= (p.Asp1999=)
c.5933A= (p.Asp1978=)
c.5804A= (p.Asp1935=)
c.5792A= (p.Asp1931=)
c.5765A= (p.Asp1922=)
n.6349A=
n.6323A=
c.6119A= (p.Asp2040=)
c.6113A= (p.Asp2038=)
c.6110A= (p.Asp2037=)
c.6005A= (p.Asp2002=)
c.6002A= (p.Asp2001=)
n.6108A=
n.6049A=
n.6094A=
11g.77208781A>CCA381934634MYO7Ac.6029A>C (p.Asp2010Ala)
c.3830A>C
c.5882A>C (p.Asp1961Ala)
c.3455A>C (p.Asp1152Ala)
c.5915A>C (p.Asp1972Ala)
n.3565A>C
n.943A>C
c.5912A>C (p.Asp1971Ala)
c.6020A>C (p.Asp2007Ala)
c.6023A>C (p.Asp2008Ala)
c.5996A>C (p.Asp1999Ala)
c.5933A>C (p.Asp1978Ala)
c.5804A>C (p.Asp1935Ala)
c.5792A>C (p.Asp1931Ala)
c.5765A>C (p.Asp1922Ala)
n.6349A>C
n.6323A>C
c.6119A>C (p.Asp2040Ala)
c.6113A>C (p.Asp2038Ala)
c.6110A>C (p.Asp2037Ala)
c.6005A>C (p.Asp2002Ala)
c.6002A>C (p.Asp2001Ala)
n.6108A>C
n.6049A>C
n.6094A>C
11g.77208781A>GCA278703MYO7Ac.6029A>G (p.Asp2010Gly)
c.3830A>G
c.5882A>G (p.Asp1961Gly)
c.3455A>G (p.Asp1152Gly)
c.5915A>G (p.Asp1972Gly)
n.3565A>G
n.943A>G
c.5912A>G (p.Asp1971Gly)
c.6020A>G (p.Asp2007Gly)
c.6023A>G (p.Asp2008Gly)
c.5996A>G (p.Asp1999Gly)
c.5933A>G (p.Asp1978Gly)
c.5804A>G (p.Asp1935Gly)
c.5792A>G (p.Asp1931Gly)
c.5765A>G (p.Asp1922Gly)
n.6349A>G
n.6323A>G
c.6119A>G (p.Asp2040Gly)
c.6113A>G (p.Asp2038Gly)
c.6110A>G (p.Asp2037Gly)
c.6005A>G (p.Asp2002Gly)
c.6002A>G (p.Asp2001Gly)
n.6108A>G
n.6049A>G
n.6094A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77208781A>TCA381934639MYO7Ac.6029A>T (p.Asp2010Val)
c.3830A>T
c.5882A>T (p.Asp1961Val)
c.3455A>T (p.Asp1152Val)
c.5915A>T (p.Asp1972Val)
n.3565A>T
n.943A>T
c.5912A>T (p.Asp1971Val)
c.6020A>T (p.Asp2007Val)
c.6023A>T (p.Asp2008Val)
c.5996A>T (p.Asp1999Val)
c.5933A>T (p.Asp1978Val)
c.5804A>T (p.Asp1935Val)
c.5792A>T (p.Asp1931Val)
c.5765A>T (p.Asp1922Val)
n.6349A>T
n.6323A>T
c.6119A>T (p.Asp2040Val)
c.6113A>T (p.Asp2038Val)
c.6110A>T (p.Asp2037Val)
c.6005A>T (p.Asp2002Val)
c.6002A>T (p.Asp2001Val)
n.6108A>T
n.6049A>T
n.6094A>T
11g.77208782T>ACA381934643MYO7Ac.6030T>A (p.Asp2010Glu)
c.3831T>A
c.5883T>A (p.Asp1961Glu)
c.3456T>A (p.Asp1152Glu)
c.5916T>A (p.Asp1972Glu)
n.3566T>A
n.944T>A
c.5913T>A (p.Asp1971Glu)
c.6021T>A (p.Asp2007Glu)
c.6024T>A (p.Asp2008Glu)
c.5997T>A (p.Asp1999Glu)
c.5934T>A (p.Asp1978Glu)
c.5805T>A (p.Asp1935Glu)
c.5793T>A (p.Asp1931Glu)
c.5766T>A (p.Asp1922Glu)
n.6350T>A
n.6324T>A
c.6120T>A (p.Asp2040Glu)
c.6114T>A (p.Asp2038Glu)
c.6111T>A (p.Asp2037Glu)
c.6006T>A (p.Asp2002Glu)
c.6003T>A (p.Asp2001Glu)
n.6109T>A
n.6050T>A
n.6095T>A
11g.77208782T>CCA475791709MYO7Ac.6030T>C (p.Asp2010=)
c.3831T>C
c.5883T>C (p.Asp1961=)
c.3456T>C (p.Asp1152=)
c.5916T>C (p.Asp1972=)
n.3566T>C
n.944T>C
c.5913T>C (p.Asp1971=)
c.6021T>C (p.Asp2007=)
c.6024T>C (p.Asp2008=)
c.5997T>C (p.Asp1999=)
c.5934T>C (p.Asp1978=)
c.5805T>C (p.Asp1935=)
c.5793T>C (p.Asp1931=)
c.5766T>C (p.Asp1922=)
n.6350T>C
n.6324T>C
c.6120T>C (p.Asp2040=)
c.6114T>C (p.Asp2038=)
c.6111T>C (p.Asp2037=)
c.6006T>C (p.Asp2002=)
c.6003T>C (p.Asp2001=)
n.6109T>C
n.6050T>C
n.6095T>C
 ClinVar
11g.77208782T>GCA381934646MYO7Ac.6030T>G (p.Asp2010Glu)
c.3831T>G
c.5883T>G (p.Asp1961Glu)
c.3456T>G (p.Asp1152Glu)
c.5916T>G (p.Asp1972Glu)
n.3566T>G
n.944T>G
c.5913T>G (p.Asp1971Glu)
c.6021T>G (p.Asp2007Glu)
c.6024T>G (p.Asp2008Glu)
c.5997T>G (p.Asp1999Glu)
c.5934T>G (p.Asp1978Glu)
c.5805T>G (p.Asp1935Glu)
c.5793T>G (p.Asp1931Glu)
c.5766T>G (p.Asp1922Glu)
n.6350T>G
n.6324T>G
c.6120T>G (p.Asp2040Glu)
c.6114T>G (p.Asp2038Glu)
c.6111T>G (p.Asp2037Glu)
c.6006T>G (p.Asp2002Glu)
c.6003T>G (p.Asp2001Glu)
n.6109T>G
n.6050T>G
n.6095T>G
11g.77208783T>ACA381934649MYO7Ac.6031T>A (p.Ser2011Thr)
c.3832T>A
c.5884T>A (p.Ser1962Thr)
c.3457T>A (p.Ser1153Thr)
c.5917T>A (p.Ser1973Thr)
n.3567T>A
n.945T>A
c.5914T>A (p.Ser1972Thr)
c.6022T>A (p.Ser2008Thr)
c.6025T>A (p.Ser2009Thr)
c.5998T>A (p.Ser2000Thr)
c.5935T>A (p.Ser1979Thr)
c.5806T>A (p.Ser1936Thr)
c.5794T>A (p.Ser1932Thr)
c.5767T>A (p.Ser1923Thr)
n.6351T>A
n.6325T>A
c.6121T>A (p.Ser2041Thr)
c.6115T>A (p.Ser2039Thr)
c.6112T>A (p.Ser2038Thr)
c.6007T>A (p.Ser2003Thr)
c.6004T>A (p.Ser2002Thr)
n.6110T>A
n.6051T>A
n.6096T>A
11g.77208783T>CCA381934651MYO7Ac.6031T>C (p.Ser2011Pro)
c.3832T>C
c.5884T>C (p.Ser1962Pro)
c.3457T>C (p.Ser1153Pro)
c.5917T>C (p.Ser1973Pro)
n.3567T>C
n.945T>C
c.5914T>C (p.Ser1972Pro)
c.6022T>C (p.Ser2008Pro)
c.6025T>C (p.Ser2009Pro)
c.5998T>C (p.Ser2000Pro)
c.5935T>C (p.Ser1979Pro)
c.5806T>C (p.Ser1936Pro)
c.5794T>C (p.Ser1932Pro)
c.5767T>C (p.Ser1923Pro)
n.6351T>C
n.6325T>C
c.6121T>C (p.Ser2041Pro)
c.6115T>C (p.Ser2039Pro)
c.6112T>C (p.Ser2038Pro)
c.6007T>C (p.Ser2003Pro)
c.6004T>C (p.Ser2002Pro)
n.6110T>C
n.6051T>C
n.6096T>C
11g.77208783T>GCA381934654MYO7Ac.6031T>G (p.Ser2011Ala)
c.3832T>G
c.5884T>G (p.Ser1962Ala)
c.3457T>G (p.Ser1153Ala)
c.5917T>G (p.Ser1973Ala)
n.3567T>G
n.945T>G
c.5914T>G (p.Ser1972Ala)
c.6022T>G (p.Ser2008Ala)
c.6025T>G (p.Ser2009Ala)
c.5998T>G (p.Ser2000Ala)
c.5935T>G (p.Ser1979Ala)
c.5806T>G (p.Ser1936Ala)
c.5794T>G (p.Ser1932Ala)
c.5767T>G (p.Ser1923Ala)
n.6351T>G
n.6325T>G
c.6121T>G (p.Ser2041Ala)
c.6115T>G (p.Ser2039Ala)
c.6112T>G (p.Ser2038Ala)
c.6007T>G (p.Ser2003Ala)
c.6004T>G (p.Ser2002Ala)
n.6110T>G
n.6051T>G
n.6096T>G
11g.77208784C>ACA381934664MYO7Ac.6032C>A (p.Ser2011Tyr)
c.3833C>A
c.5885C>A (p.Ser1962Tyr)
c.3458C>A (p.Ser1153Tyr)
c.5918C>A (p.Ser1973Tyr)
n.3568C>A
n.946C>A
c.5915C>A (p.Ser1972Tyr)
c.6023C>A (p.Ser2008Tyr)
c.6026C>A (p.Ser2009Tyr)
c.5999C>A (p.Ser2000Tyr)
c.5936C>A (p.Ser1979Tyr)
c.5807C>A (p.Ser1936Tyr)
c.5795C>A (p.Ser1932Tyr)
c.5768C>A (p.Ser1923Tyr)
n.6352C>A
n.6326C>A
c.6122C>A (p.Ser2041Tyr)
c.6116C>A (p.Ser2039Tyr)
c.6113C>A (p.Ser2038Tyr)
c.6008C>A (p.Ser2003Tyr)
c.6005C>A (p.Ser2002Tyr)
n.6111C>A
n.6052C>A
n.6097C>A
 gnomAD v4
11g.77208784C>GCA381934661MYO7Ac.6032C>G (p.Ser2011Cys)
c.3833C>G
c.5885C>G (p.Ser1962Cys)
c.3458C>G (p.Ser1153Cys)
c.5918C>G (p.Ser1973Cys)
n.3568C>G
n.946C>G
c.5915C>G (p.Ser1972Cys)
c.6023C>G (p.Ser2008Cys)
c.6026C>G (p.Ser2009Cys)
c.5999C>G (p.Ser2000Cys)
c.5936C>G (p.Ser1979Cys)
c.5807C>G (p.Ser1936Cys)
c.5795C>G (p.Ser1932Cys)
c.5768C>G (p.Ser1923Cys)
n.6352C>G
n.6326C>G
c.6122C>G (p.Ser2041Cys)
c.6116C>G (p.Ser2039Cys)
c.6113C>G (p.Ser2038Cys)
c.6008C>G (p.Ser2003Cys)
c.6005C>G (p.Ser2002Cys)
n.6111C>G
n.6052C>G
n.6097C>G
11g.77208784C>TCA381934658MYO7Ac.6032C>T (p.Ser2011Phe)
c.3833C>T
c.5885C>T (p.Ser1962Phe)
c.3458C>T (p.Ser1153Phe)
c.5918C>T (p.Ser1973Phe)
n.3568C>T
n.946C>T
c.5915C>T (p.Ser1972Phe)
c.6023C>T (p.Ser2008Phe)
c.6026C>T (p.Ser2009Phe)
c.5999C>T (p.Ser2000Phe)
c.5936C>T (p.Ser1979Phe)
c.5807C>T (p.Ser1936Phe)
c.5795C>T (p.Ser1932Phe)
c.5768C>T (p.Ser1923Phe)
n.6352C>T
n.6326C>T
c.6122C>T (p.Ser2041Phe)
c.6116C>T (p.Ser2039Phe)
c.6113C>T (p.Ser2038Phe)
c.6008C>T (p.Ser2003Phe)
c.6005C>T (p.Ser2002Phe)
n.6111C>T
n.6052C>T
n.6097C>T
 gnomAD v4
11g.77208785C>ACA475791710MYO7Ac.6033C>A (p.Ser2011=)
c.3834C>A
c.5886C>A (p.Ser1962=)
c.3459C>A (p.Ser1153=)
c.5919C>A (p.Ser1973=)
n.3569C>A
n.947C>A
c.5916C>A (p.Ser1972=)
c.6024C>A (p.Ser2008=)
c.6027C>A (p.Ser2009=)
c.6000C>A (p.Ser2000=)
c.5937C>A (p.Ser1979=)
c.5808C>A (p.Ser1936=)
c.5796C>A (p.Ser1932=)
c.5769C>A (p.Ser1923=)
n.6353C>A
n.6327C>A
c.6123C>A (p.Ser2041=)
c.6117C>A (p.Ser2039=)
c.6114C>A (p.Ser2038=)
c.6009C>A (p.Ser2003=)
c.6006C>A (p.Ser2002=)
n.6112C>A
n.6053C>A
n.6098C>A
 dbSNP gnomAD v2 gnomAD v4
11g.77208785C=CA1984128612MYO7Ac.6033C= (p.Ser2011=)
c.3834C=
c.5886C= (p.Ser1962=)
c.3459C= (p.Ser1153=)
c.5919C= (p.Ser1973=)
n.3569C=
n.947C=
c.5916C= (p.Ser1972=)
c.6024C= (p.Ser2008=)
c.6027C= (p.Ser2009=)
c.6000C= (p.Ser2000=)
c.5937C= (p.Ser1979=)
c.5808C= (p.Ser1936=)
c.5796C= (p.Ser1932=)
c.5769C= (p.Ser1923=)
n.6353C=
n.6327C=
c.6123C= (p.Ser2041=)
c.6117C= (p.Ser2039=)
c.6114C= (p.Ser2038=)
c.6009C= (p.Ser2003=)
c.6006C= (p.Ser2002=)
n.6112C=
n.6053C=
n.6098C=
11g.77208785C>GCA475791712MYO7Ac.6033C>G (p.Ser2011=)
c.3834C>G
c.5886C>G (p.Ser1962=)
c.3459C>G (p.Ser1153=)
c.5919C>G (p.Ser1973=)
n.3569C>G
n.947C>G
c.5916C>G (p.Ser1972=)
c.6024C>G (p.Ser2008=)
c.6027C>G (p.Ser2009=)
c.6000C>G (p.Ser2000=)
c.5937C>G (p.Ser1979=)
c.5808C>G (p.Ser1936=)
c.5796C>G (p.Ser1932=)
c.5769C>G (p.Ser1923=)
n.6353C>G
n.6327C>G
c.6123C>G (p.Ser2041=)
c.6117C>G (p.Ser2039=)
c.6114C>G (p.Ser2038=)
c.6009C>G (p.Ser2003=)
c.6006C>G (p.Ser2002=)
n.6112C>G
n.6053C>G
n.6098C>G
11g.77208785C>TCA475791711MYO7Ac.6033C>T (p.Ser2011=)
c.3834C>T
c.5886C>T (p.Ser1962=)
c.3459C>T (p.Ser1153=)
c.5919C>T (p.Ser1973=)
n.3569C>T
n.947C>T
c.5916C>T (p.Ser1972=)
c.6024C>T (p.Ser2008=)
c.6027C>T (p.Ser2009=)
c.6000C>T (p.Ser2000=)
c.5937C>T (p.Ser1979=)
c.5808C>T (p.Ser1936=)
c.5796C>T (p.Ser1932=)
c.5769C>T (p.Ser1923=)
n.6353C>T
n.6327C>T
c.6123C>T (p.Ser2041=)
c.6117C>T (p.Ser2039=)
c.6114C>T (p.Ser2038=)
c.6009C>T (p.Ser2003=)
c.6006C>T (p.Ser2002=)
n.6112C>T
n.6053C>T
n.6098C>T
 ClinVar dbSNP
11g.77208786A=CA1984128613MYO7Ac.6034A= (p.Ile2012=)
c.3835A=
c.5887A= (p.Ile1963=)
c.3460A= (p.Ile1154=)
c.5920A= (p.Ile1974=)
n.3570A=
n.948A=
c.5917A= (p.Ile1973=)
c.6025A= (p.Ile2009=)
c.6028A= (p.Ile2010=)
c.6001A= (p.Ile2001=)
c.5938A= (p.Ile1980=)
c.5809A= (p.Ile1937=)
c.5797A= (p.Ile1933=)
c.5770A= (p.Ile1924=)
n.6354A=
n.6328A=
c.6124A= (p.Ile2042=)
c.6118A= (p.Ile2040=)
c.6115A= (p.Ile2039=)
c.6010A= (p.Ile2004=)
c.6007A= (p.Ile2003=)
n.6113A=
n.6054A=
n.6099A=
11g.77208786A>CCA381934666MYO7Ac.6034A>C (p.Ile2012Leu)
c.3835A>C
c.5887A>C (p.Ile1963Leu)
c.3460A>C (p.Ile1154Leu)
c.5920A>C (p.Ile1974Leu)
n.3570A>C
n.948A>C
c.5917A>C (p.Ile1973Leu)
c.6025A>C (p.Ile2009Leu)
c.6028A>C (p.Ile2010Leu)
c.6001A>C (p.Ile2001Leu)
c.5938A>C (p.Ile1980Leu)
c.5809A>C (p.Ile1937Leu)
c.5797A>C (p.Ile1933Leu)
c.5770A>C (p.Ile1924Leu)
n.6354A>C
n.6328A>C
c.6124A>C (p.Ile2042Leu)
c.6118A>C (p.Ile2040Leu)
c.6115A>C (p.Ile2039Leu)
c.6010A>C (p.Ile2004Leu)
c.6007A>C (p.Ile2003Leu)
n.6113A>C
n.6054A>C
n.6099A>C
11g.77208786A>GCA381934669MYO7Ac.6034A>G (p.Ile2012Val)
c.3835A>G
c.5887A>G (p.Ile1963Val)
c.3460A>G (p.Ile1154Val)
c.5920A>G (p.Ile1974Val)
n.3570A>G
n.948A>G
c.5917A>G (p.Ile1973Val)
c.6025A>G (p.Ile2009Val)
c.6028A>G (p.Ile2010Val)
c.6001A>G (p.Ile2001Val)
c.5938A>G (p.Ile1980Val)
c.5809A>G (p.Ile1937Val)
c.5797A>G (p.Ile1933Val)
c.5770A>G (p.Ile1924Val)
n.6354A>G
n.6328A>G
c.6124A>G (p.Ile2042Val)
c.6118A>G (p.Ile2040Val)
c.6115A>G (p.Ile2039Val)
c.6010A>G (p.Ile2004Val)
c.6007A>G (p.Ile2003Val)
n.6113A>G
n.6054A>G
n.6099A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77208786A>TCA381934672MYO7Ac.6034A>T (p.Ile2012Phe)
c.3835A>T
c.5887A>T (p.Ile1963Phe)
c.3460A>T (p.Ile1154Phe)
c.5920A>T (p.Ile1974Phe)
n.3570A>T
n.948A>T
c.5917A>T (p.Ile1973Phe)
c.6025A>T (p.Ile2009Phe)
c.6028A>T (p.Ile2010Phe)
c.6001A>T (p.Ile2001Phe)
c.5938A>T (p.Ile1980Phe)
c.5809A>T (p.Ile1937Phe)
c.5797A>T (p.Ile1933Phe)
c.5770A>T (p.Ile1924Phe)
n.6354A>T
n.6328A>T
c.6124A>T (p.Ile2042Phe)
c.6118A>T (p.Ile2040Phe)
c.6115A>T (p.Ile2039Phe)
c.6010A>T (p.Ile2004Phe)
c.6007A>T (p.Ile2003Phe)
n.6113A>T
n.6054A>T
n.6099A>T
11g.77208787T>ACA381934676MYO7Ac.6035T>A (p.Ile2012Asn)
c.3836T>A
c.5888T>A (p.Ile1963Asn)
c.3461T>A (p.Ile1154Asn)
c.5921T>A (p.Ile1974Asn)
n.3571T>A
n.949T>A
c.5918T>A (p.Ile1973Asn)
c.6026T>A (p.Ile2009Asn)
c.6029T>A (p.Ile2010Asn)
c.6002T>A (p.Ile2001Asn)
c.5939T>A (p.Ile1980Asn)
c.5810T>A (p.Ile1937Asn)
c.5798T>A (p.Ile1933Asn)
c.5771T>A (p.Ile1924Asn)
n.6355T>A
n.6329T>A
c.6125T>A (p.Ile2042Asn)
c.6119T>A (p.Ile2040Asn)
c.6116T>A (p.Ile2039Asn)
c.6011T>A (p.Ile2004Asn)
c.6008T>A (p.Ile2003Asn)
n.6114T>A
n.6055T>A
n.6100T>A
 gnomAD v4
11g.77208787T>CCA381934678MYO7Ac.6035T>C (p.Ile2012Thr)
c.3836T>C
c.5888T>C (p.Ile1963Thr)
c.3461T>C (p.Ile1154Thr)
c.5921T>C (p.Ile1974Thr)
n.3571T>C
n.949T>C
c.5918T>C (p.Ile1973Thr)
c.6026T>C (p.Ile2009Thr)
c.6029T>C (p.Ile2010Thr)
c.6002T>C (p.Ile2001Thr)
c.5939T>C (p.Ile1980Thr)
c.5810T>C (p.Ile1937Thr)
c.5798T>C (p.Ile1933Thr)
c.5771T>C (p.Ile1924Thr)
n.6355T>C
n.6329T>C
c.6125T>C (p.Ile2042Thr)
c.6119T>C (p.Ile2040Thr)
c.6116T>C (p.Ile2039Thr)
c.6011T>C (p.Ile2004Thr)
c.6008T>C (p.Ile2003Thr)
n.6114T>C
n.6055T>C
n.6100T>C
 gnomAD v4
11g.77208787T>GCA381934681MYO7Ac.6035T>G (p.Ile2012Ser)
c.3836T>G
c.5888T>G (p.Ile1963Ser)
c.3461T>G (p.Ile1154Ser)
c.5921T>G (p.Ile1974Ser)
n.3571T>G
n.949T>G
c.5918T>G (p.Ile1973Ser)
c.6026T>G (p.Ile2009Ser)
c.6029T>G (p.Ile2010Ser)
c.6002T>G (p.Ile2001Ser)
c.5939T>G (p.Ile1980Ser)
c.5810T>G (p.Ile1937Ser)
c.5798T>G (p.Ile1933Ser)
c.5771T>G (p.Ile1924Ser)
n.6355T>G
n.6329T>G
c.6125T>G (p.Ile2042Ser)
c.6119T>G (p.Ile2040Ser)
c.6116T>G (p.Ile2039Ser)
c.6011T>G (p.Ile2004Ser)
c.6008T>G (p.Ile2003Ser)
n.6114T>G
n.6055T>G
n.6100T>G
11g.77208788C>ACA475791713MYO7Ac.6036C>A (p.Ile2012=)
c.3837C>A
c.5889C>A (p.Ile1963=)
c.3462C>A (p.Ile1154=)
c.5922C>A (p.Ile1974=)
n.3572C>A
n.950C>A
c.5919C>A (p.Ile1973=)
c.6027C>A (p.Ile2009=)
c.6030C>A (p.Ile2010=)
c.6003C>A (p.Ile2001=)
c.5940C>A (p.Ile1980=)
c.5811C>A (p.Ile1937=)
c.5799C>A (p.Ile1933=)
c.5772C>A (p.Ile1924=)
n.6356C>A
n.6330C>A
c.6126C>A (p.Ile2042=)
c.6120C>A (p.Ile2040=)
c.6117C>A (p.Ile2039=)
c.6012C>A (p.Ile2004=)
c.6009C>A (p.Ile2003=)
n.6115C>A
n.6056C>A
n.6101C>A
 gnomAD v4
11g.77208788C=CA1984128614MYO7Ac.6036C= (p.Ile2012=)
c.3837C=
c.5889C= (p.Ile1963=)
c.3462C= (p.Ile1154=)
c.5922C= (p.Ile1974=)
n.3572C=
n.950C=
c.5919C= (p.Ile1973=)
c.6027C= (p.Ile2009=)
c.6030C= (p.Ile2010=)
c.6003C= (p.Ile2001=)
c.5940C= (p.Ile1980=)
c.5811C= (p.Ile1937=)
c.5799C= (p.Ile1933=)
c.5772C= (p.Ile1924=)
n.6356C=
n.6330C=
c.6126C= (p.Ile2042=)
c.6120C= (p.Ile2040=)
c.6117C= (p.Ile2039=)
c.6012C= (p.Ile2004=)
c.6009C= (p.Ile2003=)
n.6115C=
n.6056C=
n.6101C=
11g.77208788C>GCA381934683MYO7Ac.6036C>G (p.Ile2012Met)
c.3837C>G
c.5889C>G (p.Ile1963Met)
c.3462C>G (p.Ile1154Met)
c.5922C>G (p.Ile1974Met)
n.3572C>G
n.950C>G
c.5919C>G (p.Ile1973Met)
c.6027C>G (p.Ile2009Met)
c.6030C>G (p.Ile2010Met)
c.6003C>G (p.Ile2001Met)
c.5940C>G (p.Ile1980Met)
c.5811C>G (p.Ile1937Met)
c.5799C>G (p.Ile1933Met)
c.5772C>G (p.Ile1924Met)
n.6356C>G
n.6330C>G
c.6126C>G (p.Ile2042Met)
c.6120C>G (p.Ile2040Met)
c.6117C>G (p.Ile2039Met)
c.6012C>G (p.Ile2004Met)
c.6009C>G (p.Ile2003Met)
n.6115C>G
n.6056C>G
n.6101C>G
11g.77208788C>TCA475791714MYO7Ac.6036C>T (p.Ile2012=)
c.3837C>T
c.5889C>T (p.Ile1963=)
c.3462C>T (p.Ile1154=)
c.5922C>T (p.Ile1974=)
n.3572C>T
n.950C>T
c.5919C>T (p.Ile1973=)
c.6027C>T (p.Ile2009=)
c.6030C>T (p.Ile2010=)
c.6003C>T (p.Ile2001=)
c.5940C>T (p.Ile1980=)
c.5811C>T (p.Ile1937=)
c.5799C>T (p.Ile1933=)
c.5772C>T (p.Ile1924=)
n.6356C>T
n.6330C>T
c.6126C>T (p.Ile2042=)
c.6120C>T (p.Ile2040=)
c.6117C>T (p.Ile2039=)
c.6012C>T (p.Ile2004=)
c.6009C>T (p.Ile2003=)
n.6115C>T
n.6056C>T
n.6101C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77208789T>ACA381934688MYO7Ac.6037T>A (p.Phe2013Ile)
c.3838T>A
c.5890T>A (p.Phe1964Ile)
c.3463T>A (p.Phe1155Ile)
c.5923T>A (p.Phe1975Ile)
n.3573T>A
n.951T>A
c.5920T>A (p.Phe1974Ile)
c.6028T>A (p.Phe2010Ile)
c.6031T>A (p.Phe2011Ile)
c.6004T>A (p.Phe2002Ile)
c.5941T>A (p.Phe1981Ile)
c.5812T>A (p.Phe1938Ile)
c.5800T>A (p.Phe1934Ile)
c.5773T>A (p.Phe1925Ile)
n.6357T>A
n.6331T>A
c.6127T>A (p.Phe2043Ile)
c.6121T>A (p.Phe2041Ile)
c.6118T>A (p.Phe2040Ile)
c.6013T>A (p.Phe2005Ile)
c.6010T>A (p.Phe2004Ile)
n.6116T>A
n.6057T>A
n.6102T>A
 ClinVar gnomAD v4
11g.77208789T>CCA381934690MYO7Ac.6037T>C (p.Phe2013Leu)
c.3838T>C
c.5890T>C (p.Phe1964Leu)
c.3463T>C (p.Phe1155Leu)
c.5923T>C (p.Phe1975Leu)
n.3573T>C
n.951T>C
c.5920T>C (p.Phe1974Leu)
c.6028T>C (p.Phe2010Leu)
c.6031T>C (p.Phe2011Leu)
c.6004T>C (p.Phe2002Leu)
c.5941T>C (p.Phe1981Leu)
c.5812T>C (p.Phe1938Leu)
c.5800T>C (p.Phe1934Leu)
c.5773T>C (p.Phe1925Leu)
n.6357T>C
n.6331T>C
c.6127T>C (p.Phe2043Leu)
c.6121T>C (p.Phe2041Leu)
c.6118T>C (p.Phe2040Leu)
c.6013T>C (p.Phe2005Leu)
c.6010T>C (p.Phe2004Leu)
n.6116T>C
n.6057T>C
n.6102T>C
 gnomAD v4
11g.77208789T>GCA381934694MYO7Ac.6037T>G (p.Phe2013Val)
c.3838T>G
c.5890T>G (p.Phe1964Val)
c.3463T>G (p.Phe1155Val)
c.5923T>G (p.Phe1975Val)
n.3573T>G
n.951T>G
c.5920T>G (p.Phe1974Val)
c.6028T>G (p.Phe2010Val)
c.6031T>G (p.Phe2011Val)
c.6004T>G (p.Phe2002Val)
c.5941T>G (p.Phe1981Val)
c.5812T>G (p.Phe1938Val)
c.5800T>G (p.Phe1934Val)
c.5773T>G (p.Phe1925Val)
n.6357T>G
n.6331T>G
c.6127T>G (p.Phe2043Val)
c.6121T>G (p.Phe2041Val)
c.6118T>G (p.Phe2040Val)
c.6013T>G (p.Phe2005Val)
c.6010T>G (p.Phe2004Val)
n.6116T>G
n.6057T>G
n.6102T>G

Number of alleles fetched