Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.77208678_77208681dup | CA2615255828 | MYO7A | c.5945-19_5945-16dup (n.5945-19_5945-16dup) c.3772-45_3772-42dup c.5798-19_5798-16dup (n.5798-19_5798-16dup) c.3371-19_3371-16dup (n.3371-19_3371-16dup) c.5831-19_5831-16dup (n.5831-19_5831-16dup) n.3481-19_3481-16dup n.859-19_859-16dup c.5828-19_5828-16dup (n.5828-19_5828-16dup) c.5936-19_5936-16dup (n.5936-19_5936-16dup) c.5939-19_5939-16dup (n.5939-19_5939-16dup) c.5912-19_5912-16dup (n.5912-19_5912-16dup) c.5849-19_5849-16dup (n.5849-19_5849-16dup) c.5720-19_5720-16dup (n.5720-19_5720-16dup) c.5708-19_5708-16dup (n.5708-19_5708-16dup) c.5681-19_5681-16dup (n.5681-19_5681-16dup) n.6265-19_6265-16dup n.6265-45_6265-42dup c.6035-19_6035-16dup (n.6035-19_6035-16dup) c.6029-19_6029-16dup (n.6029-19_6029-16dup) c.6026-19_6026-16dup (n.6026-19_6026-16dup) c.5921-19_5921-16dup (n.5921-19_5921-16dup) c.5918-19_5918-16dup (n.5918-19_5918-16dup) n.6050-45_6050-42dup n.5965-19_5965-16dup n.6036-45_6036-42dup | gnomAD v4 |
11 | g.77208681C>A | CA2615255854 | MYO7A | c.5945-16C>A (n.5945-16C>A) c.3772-42C>A c.5798-16C>A (n.5798-16C>A) c.3371-16C>A (n.3371-16C>A) c.5831-16C>A (n.5831-16C>A) n.3481-16C>A n.859-16C>A c.5828-16C>A (n.5828-16C>A) c.5936-16C>A (n.5936-16C>A) c.5939-16C>A (n.5939-16C>A) c.5912-16C>A (n.5912-16C>A) c.5849-16C>A (n.5849-16C>A) c.5720-16C>A (n.5720-16C>A) c.5708-16C>A (n.5708-16C>A) c.5681-16C>A (n.5681-16C>A) n.6265-16C>A n.6265-42C>A c.6035-16C>A (n.6035-16C>A) c.6029-16C>A (n.6029-16C>A) c.6026-16C>A (n.6026-16C>A) c.5921-16C>A (n.5921-16C>A) c.5918-16C>A (n.5918-16C>A) n.6050-42C>A n.5965-16C>A n.6036-42C>A | gnomAD v4 |
11 | g.77208682T>C | CA6198888 | MYO7A | c.5945-15T>C (n.5945-15T>C) c.3772-41T>C c.5798-15T>C (n.5798-15T>C) c.3371-15T>C (n.3371-15T>C) c.5831-15T>C (n.5831-15T>C) n.3481-15T>C n.859-15T>C c.5828-15T>C (n.5828-15T>C) c.5936-15T>C (n.5936-15T>C) c.5939-15T>C (n.5939-15T>C) c.5912-15T>C (n.5912-15T>C) c.5849-15T>C (n.5849-15T>C) c.5720-15T>C (n.5720-15T>C) c.5708-15T>C (n.5708-15T>C) c.5681-15T>C (n.5681-15T>C) n.6265-15T>C n.6265-41T>C c.6035-15T>C (n.6035-15T>C) c.6029-15T>C (n.6029-15T>C) c.6026-15T>C (n.6026-15T>C) c.5921-15T>C (n.5921-15T>C) c.5918-15T>C (n.5918-15T>C) n.6050-41T>C n.5965-15T>C n.6036-41T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77208682T= | CA1984128555 | MYO7A | c.5945-15T= (n.5945-15T=) c.3772-41T= c.5798-15T= (n.5798-15T=) c.3371-15T= (n.3371-15T=) c.5831-15T= (n.5831-15T=) n.3481-15T= n.859-15T= c.5828-15T= (n.5828-15T=) c.5936-15T= (n.5936-15T=) c.5939-15T= (n.5939-15T=) c.5912-15T= (n.5912-15T=) c.5849-15T= (n.5849-15T=) c.5720-15T= (n.5720-15T=) c.5708-15T= (n.5708-15T=) c.5681-15T= (n.5681-15T=) n.6265-15T= n.6265-41T= c.6035-15T= (n.6035-15T=) c.6029-15T= (n.6029-15T=) c.6026-15T= (n.6026-15T=) c.5921-15T= (n.5921-15T=) c.5918-15T= (n.5918-15T=) n.6050-41T= n.5965-15T= n.6036-41T= | |
11 | g.77208683G>A | CA2615255859 | MYO7A | c.5945-14G>A (n.5945-14G>A) c.3772-40G>A c.5798-14G>A (n.5798-14G>A) c.3371-14G>A (n.3371-14G>A) c.5831-14G>A (n.5831-14G>A) n.3481-14G>A n.859-14G>A c.5828-14G>A (n.5828-14G>A) c.5936-14G>A (n.5936-14G>A) c.5939-14G>A (n.5939-14G>A) c.5912-14G>A (n.5912-14G>A) c.5849-14G>A (n.5849-14G>A) c.5720-14G>A (n.5720-14G>A) c.5708-14G>A (n.5708-14G>A) c.5681-14G>A (n.5681-14G>A) n.6265-14G>A n.6265-40G>A c.6035-14G>A (n.6035-14G>A) c.6029-14G>A (n.6029-14G>A) c.6026-14G>A (n.6026-14G>A) c.5921-14G>A (n.5921-14G>A) c.5918-14G>A (n.5918-14G>A) n.6050-40G>A n.5965-14G>A n.6036-40G>A | gnomAD v4 |
11 | g.77208683G>T | CA2615255860 | MYO7A | c.5945-14G>T (n.5945-14G>T) c.3772-40G>T c.5798-14G>T (n.5798-14G>T) c.3371-14G>T (n.3371-14G>T) c.5831-14G>T (n.5831-14G>T) n.3481-14G>T n.859-14G>T c.5828-14G>T (n.5828-14G>T) c.5936-14G>T (n.5936-14G>T) c.5939-14G>T (n.5939-14G>T) c.5912-14G>T (n.5912-14G>T) c.5849-14G>T (n.5849-14G>T) c.5720-14G>T (n.5720-14G>T) c.5708-14G>T (n.5708-14G>T) c.5681-14G>T (n.5681-14G>T) n.6265-14G>T n.6265-40G>T c.6035-14G>T (n.6035-14G>T) c.6029-14G>T (n.6029-14G>T) c.6026-14G>T (n.6026-14G>T) c.5921-14G>T (n.5921-14G>T) c.5918-14G>T (n.5918-14G>T) n.6050-40G>T n.5965-14G>T n.6036-40G>T | gnomAD v4 |
11 | g.77208683_77208685del | CA2615255858 | MYO7A | c.5945-14_5945-12del (n.5945-14_5945-12del) c.3772-40_3772-38del c.5798-14_5798-12del (n.5798-14_5798-12del) c.3371-14_3371-12del (n.3371-14_3371-12del) c.5831-14_5831-12del (n.5831-14_5831-12del) n.3481-14_3481-12del n.859-14_859-12del c.5828-14_5828-12del (n.5828-14_5828-12del) c.5936-14_5936-12del (n.5936-14_5936-12del) c.5939-14_5939-12del (n.5939-14_5939-12del) c.5912-14_5912-12del (n.5912-14_5912-12del) c.5849-14_5849-12del (n.5849-14_5849-12del) c.5720-14_5720-12del (n.5720-14_5720-12del) c.5708-14_5708-12del (n.5708-14_5708-12del) c.5681-14_5681-12del (n.5681-14_5681-12del) n.6265-14_6265-12del n.6265-40_6265-38del c.6035-14_6035-12del (n.6035-14_6035-12del) c.6029-14_6029-12del (n.6029-14_6029-12del) c.6026-14_6026-12del (n.6026-14_6026-12del) c.5921-14_5921-12del (n.5921-14_5921-12del) c.5918-14_5918-12del (n.5918-14_5918-12del) n.6050-40_6050-38del n.5965-14_5965-12del n.6036-40_6036-38del | gnomAD v4 |
11 | g.77208684C>A | CA2615255862 | MYO7A | c.5945-13C>A (n.5945-13C>A) c.3772-39C>A c.5798-13C>A (n.5798-13C>A) c.3371-13C>A (n.3371-13C>A) c.5831-13C>A (n.5831-13C>A) n.3481-13C>A n.859-13C>A c.5828-13C>A (n.5828-13C>A) c.5936-13C>A (n.5936-13C>A) c.5939-13C>A (n.5939-13C>A) c.5912-13C>A (n.5912-13C>A) c.5849-13C>A (n.5849-13C>A) c.5720-13C>A (n.5720-13C>A) c.5708-13C>A (n.5708-13C>A) c.5681-13C>A (n.5681-13C>A) n.6265-13C>A n.6265-39C>A c.6035-13C>A (n.6035-13C>A) c.6029-13C>A (n.6029-13C>A) c.6026-13C>A (n.6026-13C>A) c.5921-13C>A (n.5921-13C>A) c.5918-13C>A (n.5918-13C>A) n.6050-39C>A n.5965-13C>A n.6036-39C>A | gnomAD v4 |
11 | g.77208684C= | CA1984128556 | MYO7A | c.5945-13C= (n.5945-13C=) c.3772-39C= c.5798-13C= (n.5798-13C=) c.3371-13C= (n.3371-13C=) c.5831-13C= (n.5831-13C=) n.3481-13C= n.859-13C= c.5828-13C= (n.5828-13C=) c.5936-13C= (n.5936-13C=) c.5939-13C= (n.5939-13C=) c.5912-13C= (n.5912-13C=) c.5849-13C= (n.5849-13C=) c.5720-13C= (n.5720-13C=) c.5708-13C= (n.5708-13C=) c.5681-13C= (n.5681-13C=) n.6265-13C= n.6265-39C= c.6035-13C= (n.6035-13C=) c.6029-13C= (n.6029-13C=) c.6026-13C= (n.6026-13C=) c.5921-13C= (n.5921-13C=) c.5918-13C= (n.5918-13C=) n.6050-39C= n.5965-13C= n.6036-39C= | |
11 | g.77208684C>T | CA600710892 | MYO7A | c.5945-13C>T (n.5945-13C>T) c.3772-39C>T c.5798-13C>T (n.5798-13C>T) c.3371-13C>T (n.3371-13C>T) c.5831-13C>T (n.5831-13C>T) n.3481-13C>T n.859-13C>T c.5828-13C>T (n.5828-13C>T) c.5936-13C>T (n.5936-13C>T) c.5939-13C>T (n.5939-13C>T) c.5912-13C>T (n.5912-13C>T) c.5849-13C>T (n.5849-13C>T) c.5720-13C>T (n.5720-13C>T) c.5708-13C>T (n.5708-13C>T) c.5681-13C>T (n.5681-13C>T) n.6265-13C>T n.6265-39C>T c.6035-13C>T (n.6035-13C>T) c.6029-13C>T (n.6029-13C>T) c.6026-13C>T (n.6026-13C>T) c.5921-13C>T (n.5921-13C>T) c.5918-13C>T (n.5918-13C>T) n.6050-39C>T n.5965-13C>T n.6036-39C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77208685C>A | CA1984128558 | MYO7A | c.5945-12C>A (n.5945-12C>A) c.3772-38C>A c.5798-12C>A (n.5798-12C>A) c.3371-12C>A (n.3371-12C>A) c.5831-12C>A (n.5831-12C>A) n.3481-12C>A n.859-12C>A c.5828-12C>A (n.5828-12C>A) c.5936-12C>A (n.5936-12C>A) c.5939-12C>A (n.5939-12C>A) c.5912-12C>A (n.5912-12C>A) c.5849-12C>A (n.5849-12C>A) c.5720-12C>A (n.5720-12C>A) c.5708-12C>A (n.5708-12C>A) c.5681-12C>A (n.5681-12C>A) n.6265-12C>A n.6265-38C>A c.6035-12C>A (n.6035-12C>A) c.6029-12C>A (n.6029-12C>A) c.6026-12C>A (n.6026-12C>A) c.5921-12C>A (n.5921-12C>A) c.5918-12C>A (n.5918-12C>A) n.6050-38C>A n.5965-12C>A n.6036-38C>A | dbSNP gnomAD v4 |
11 | g.77208685C= | CA1984128557 | MYO7A | c.5945-12C= (n.5945-12C=) c.3772-38C= c.5798-12C= (n.5798-12C=) c.3371-12C= (n.3371-12C=) c.5831-12C= (n.5831-12C=) n.3481-12C= n.859-12C= c.5828-12C= (n.5828-12C=) c.5936-12C= (n.5936-12C=) c.5939-12C= (n.5939-12C=) c.5912-12C= (n.5912-12C=) c.5849-12C= (n.5849-12C=) c.5720-12C= (n.5720-12C=) c.5708-12C= (n.5708-12C=) c.5681-12C= (n.5681-12C=) n.6265-12C= n.6265-38C= c.6035-12C= (n.6035-12C=) c.6029-12C= (n.6029-12C=) c.6026-12C= (n.6026-12C=) c.5921-12C= (n.5921-12C=) c.5918-12C= (n.5918-12C=) n.6050-38C= n.5965-12C= n.6036-38C= | |
11 | g.77208685C>T | CA2574931872 | MYO7A | c.5945-12C>T (n.5945-12C>T) c.3772-38C>T c.5798-12C>T (n.5798-12C>T) c.3371-12C>T (n.3371-12C>T) c.5831-12C>T (n.5831-12C>T) n.3481-12C>T n.859-12C>T c.5828-12C>T (n.5828-12C>T) c.5936-12C>T (n.5936-12C>T) c.5939-12C>T (n.5939-12C>T) c.5912-12C>T (n.5912-12C>T) c.5849-12C>T (n.5849-12C>T) c.5720-12C>T (n.5720-12C>T) c.5708-12C>T (n.5708-12C>T) c.5681-12C>T (n.5681-12C>T) n.6265-12C>T n.6265-38C>T c.6035-12C>T (n.6035-12C>T) c.6029-12C>T (n.6029-12C>T) c.6026-12C>T (n.6026-12C>T) c.5921-12C>T (n.5921-12C>T) c.5918-12C>T (n.5918-12C>T) n.6050-38C>T n.5965-12C>T n.6036-38C>T | ClinVar gnomAD v4 |
11 | g.77208686C>A | CA2615255869 | MYO7A | c.5945-11C>A (n.5945-11C>A) c.3772-37C>A c.5798-11C>A (n.5798-11C>A) c.3371-11C>A (n.3371-11C>A) c.5831-11C>A (n.5831-11C>A) n.3481-11C>A n.859-11C>A c.5828-11C>A (n.5828-11C>A) c.5936-11C>A (n.5936-11C>A) c.5939-11C>A (n.5939-11C>A) c.5912-11C>A (n.5912-11C>A) c.5849-11C>A (n.5849-11C>A) c.5720-11C>A (n.5720-11C>A) c.5708-11C>A (n.5708-11C>A) c.5681-11C>A (n.5681-11C>A) n.6265-11C>A n.6265-37C>A c.6035-11C>A (n.6035-11C>A) c.6029-11C>A (n.6029-11C>A) c.6026-11C>A (n.6026-11C>A) c.5921-11C>A (n.5921-11C>A) c.5918-11C>A (n.5918-11C>A) n.6050-37C>A n.5965-11C>A n.6036-37C>A | gnomAD v4 |
11 | g.77208686C>T | CA2615255872 | MYO7A | c.5945-11C>T (n.5945-11C>T) c.3772-37C>T c.5798-11C>T (n.5798-11C>T) c.3371-11C>T (n.3371-11C>T) c.5831-11C>T (n.5831-11C>T) n.3481-11C>T n.859-11C>T c.5828-11C>T (n.5828-11C>T) c.5936-11C>T (n.5936-11C>T) c.5939-11C>T (n.5939-11C>T) c.5912-11C>T (n.5912-11C>T) c.5849-11C>T (n.5849-11C>T) c.5720-11C>T (n.5720-11C>T) c.5708-11C>T (n.5708-11C>T) c.5681-11C>T (n.5681-11C>T) n.6265-11C>T n.6265-37C>T c.6035-11C>T (n.6035-11C>T) c.6029-11C>T (n.6029-11C>T) c.6026-11C>T (n.6026-11C>T) c.5921-11C>T (n.5921-11C>T) c.5918-11C>T (n.5918-11C>T) n.6050-37C>T n.5965-11C>T n.6036-37C>T | gnomAD v4 |
11 | g.77208687T>A | CA2615255873 | MYO7A | c.5945-10T>A (n.5945-10T>A) c.3772-36T>A c.5798-10T>A (n.5798-10T>A) c.3371-10T>A (n.3371-10T>A) c.5831-10T>A (n.5831-10T>A) n.3481-10T>A n.859-10T>A c.5828-10T>A (n.5828-10T>A) c.5936-10T>A (n.5936-10T>A) c.5939-10T>A (n.5939-10T>A) c.5912-10T>A (n.5912-10T>A) c.5849-10T>A (n.5849-10T>A) c.5720-10T>A (n.5720-10T>A) c.5708-10T>A (n.5708-10T>A) c.5681-10T>A (n.5681-10T>A) n.6265-10T>A n.6265-36T>A c.6035-10T>A (n.6035-10T>A) c.6029-10T>A (n.6029-10T>A) c.6026-10T>A (n.6026-10T>A) c.5921-10T>A (n.5921-10T>A) c.5918-10T>A (n.5918-10T>A) n.6050-36T>A n.5965-10T>A n.6036-36T>A | gnomAD v4 |
11 | g.77208687T>C | CA2615255874 | MYO7A | c.5945-10T>C (n.5945-10T>C) c.3772-36T>C c.5798-10T>C (n.5798-10T>C) c.3371-10T>C (n.3371-10T>C) c.5831-10T>C (n.5831-10T>C) n.3481-10T>C n.859-10T>C c.5828-10T>C (n.5828-10T>C) c.5936-10T>C (n.5936-10T>C) c.5939-10T>C (n.5939-10T>C) c.5912-10T>C (n.5912-10T>C) c.5849-10T>C (n.5849-10T>C) c.5720-10T>C (n.5720-10T>C) c.5708-10T>C (n.5708-10T>C) c.5681-10T>C (n.5681-10T>C) n.6265-10T>C n.6265-36T>C c.6035-10T>C (n.6035-10T>C) c.6029-10T>C (n.6029-10T>C) c.6026-10T>C (n.6026-10T>C) c.5921-10T>C (n.5921-10T>C) c.5918-10T>C (n.5918-10T>C) n.6050-36T>C n.5965-10T>C n.6036-36T>C | gnomAD v4 |
11 | g.77208687T>G | CA2615255876 | MYO7A | c.5945-10T>G (n.5945-10T>G) c.3772-36T>G c.5798-10T>G (n.5798-10T>G) c.3371-10T>G (n.3371-10T>G) c.5831-10T>G (n.5831-10T>G) n.3481-10T>G n.859-10T>G c.5828-10T>G (n.5828-10T>G) c.5936-10T>G (n.5936-10T>G) c.5939-10T>G (n.5939-10T>G) c.5912-10T>G (n.5912-10T>G) c.5849-10T>G (n.5849-10T>G) c.5720-10T>G (n.5720-10T>G) c.5708-10T>G (n.5708-10T>G) c.5681-10T>G (n.5681-10T>G) n.6265-10T>G n.6265-36T>G c.6035-10T>G (n.6035-10T>G) c.6029-10T>G (n.6029-10T>G) c.6026-10T>G (n.6026-10T>G) c.5921-10T>G (n.5921-10T>G) c.5918-10T>G (n.5918-10T>G) n.6050-36T>G n.5965-10T>G n.6036-36T>G | gnomAD v4 |
11 | g.77208688del | CA2615255884 | MYO7A | c.5945-9del (n.5945-9del) c.3772-35del c.5798-9del (n.5798-9del) c.3371-9del (n.3371-9del) c.5831-9del (n.5831-9del) n.3481-9del n.859-9del c.5828-9del (n.5828-9del) c.5936-9del (n.5936-9del) c.5939-9del (n.5939-9del) c.5912-9del (n.5912-9del) c.5849-9del (n.5849-9del) c.5720-9del (n.5720-9del) c.5708-9del (n.5708-9del) c.5681-9del (n.5681-9del) n.6265-9del n.6265-35del c.6035-9del (n.6035-9del) c.6029-9del (n.6029-9del) c.6026-9del (n.6026-9del) c.5921-9del (n.5921-9del) c.5918-9del (n.5918-9del) n.6050-35del n.5965-9del n.6036-35del | gnomAD v4 |
11 | g.77208688G>A | CA658656140 | MYO7A | c.5945-9G>A (n.5945-9G>A) c.3772-35G>A c.5798-9G>A (n.5798-9G>A) c.3371-9G>A (n.3371-9G>A) c.5831-9G>A (n.5831-9G>A) n.3481-9G>A n.859-9G>A c.5828-9G>A (n.5828-9G>A) c.5936-9G>A (n.5936-9G>A) c.5939-9G>A (n.5939-9G>A) c.5912-9G>A (n.5912-9G>A) c.5849-9G>A (n.5849-9G>A) c.5720-9G>A (n.5720-9G>A) c.5708-9G>A (n.5708-9G>A) c.5681-9G>A (n.5681-9G>A) n.6265-9G>A n.6265-35G>A c.6035-9G>A (n.6035-9G>A) c.6029-9G>A (n.6029-9G>A) c.6026-9G>A (n.6026-9G>A) c.5921-9G>A (n.5921-9G>A) c.5918-9G>A (n.5918-9G>A) n.6050-35G>A n.5965-9G>A n.6036-35G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.77208688G>C | CA680425402 | MYO7A | c.5945-9G>C (n.5945-9G>C) c.3772-35G>C c.5798-9G>C (n.5798-9G>C) c.3371-9G>C (n.3371-9G>C) c.5831-9G>C (n.5831-9G>C) n.3481-9G>C n.859-9G>C c.5828-9G>C (n.5828-9G>C) c.5936-9G>C (n.5936-9G>C) c.5939-9G>C (n.5939-9G>C) c.5912-9G>C (n.5912-9G>C) c.5849-9G>C (n.5849-9G>C) c.5720-9G>C (n.5720-9G>C) c.5708-9G>C (n.5708-9G>C) c.5681-9G>C (n.5681-9G>C) n.6265-9G>C n.6265-35G>C c.6035-9G>C (n.6035-9G>C) c.6029-9G>C (n.6029-9G>C) c.6026-9G>C (n.6026-9G>C) c.5921-9G>C (n.5921-9G>C) c.5918-9G>C (n.5918-9G>C) n.6050-35G>C n.5965-9G>C n.6036-35G>C | ClinVar dbSNP gnomAD v4 |
11 | g.77208688G= | CA1984128559 | MYO7A | c.5945-9G= (n.5945-9G=) c.3772-35G= c.5798-9G= (n.5798-9G=) c.3371-9G= (n.3371-9G=) c.5831-9G= (n.5831-9G=) n.3481-9G= n.859-9G= c.5828-9G= (n.5828-9G=) c.5936-9G= (n.5936-9G=) c.5939-9G= (n.5939-9G=) c.5912-9G= (n.5912-9G=) c.5849-9G= (n.5849-9G=) c.5720-9G= (n.5720-9G=) c.5708-9G= (n.5708-9G=) c.5681-9G= (n.5681-9G=) n.6265-9G= n.6265-35G= c.6035-9G= (n.6035-9G=) c.6029-9G= (n.6029-9G=) c.6026-9G= (n.6026-9G=) c.5921-9G= (n.5921-9G=) c.5918-9G= (n.5918-9G=) n.6050-35G= n.5965-9G= n.6036-35G= | |
11 | g.77208689T>G | CA2615255887 | MYO7A | c.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 |
11 | g.77208690G>A | CA2573147839 | MYO7A | c.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 |
11 | g.77208690G>T | CA2615255891 | MYO7A | c.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 |
11 | g.77208691C>A | CA2615255915 | MYO7A | c.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 |
11 | g.77208691C= | CA1984128560 | MYO7A | c.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= | |
11 | g.77208691C>T | CA224825398 | MYO7A | c.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 |
11 | g.77208692T>C | CA2615255918 | MYO7A | c.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 |
11 | g.77208693G>A | CA6198889 | MYO7A | c.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 |
11 | g.77208693G= | CA1984128561 | MYO7A | c.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= | |
11 | g.77208693G>T | CA2615255923 | MYO7A | c.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 |
11 | g.77208694C>A | CA2615255926 | MYO7A | c.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 |
11 | g.77208694C= | CA1984128562 | MYO7A | c.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= | |
11 | g.77208694C>T | CA224825408 | MYO7A | c.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 |
11 | g.77208695A>C | CA381933979 | MYO7A | c.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 | |
11 | g.77208695A>G | CA381933976 | MYO7A | c.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 |
11 | g.77208695A>T | CA381933973 | MYO7A | c.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 | |
11 | g.77208696G>A | CA381933984 | MYO7A | c.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 |
11 | g.77208696G>C | CA381933991 | MYO7A | c.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 | |
11 | g.77208696G= | CA1984128563 | MYO7A | c.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= | |
11 | g.77208696G>T | CA381933987 | MYO7A | c.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 |
11 | g.77208697G>A | CA278700 | MYO7A | c.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 |
11 | g.77208697G>C | CA381933995 | MYO7A | c.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 | |
11 | g.77208697G= | CA1984128564 | MYO7A | c.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= | |
11 | g.77208697G>T | CA381933996 | MYO7A | c.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 |
11 | g.77208698A>C | CA475791654 | MYO7A | c.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 | |
11 | g.77208698A>G | CA475791655 | MYO7A | c.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 |
11 | g.77208698A>T | CA475791656 | MYO7A | c.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 | |
11 | g.77208699del | CA2615255977 | MYO7A | c.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 |
11 | g.77208699A>C | CA381933999 | MYO7A | c.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 | |
11 | g.77208699A>G | CA381934001 | MYO7A | c.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 |
11 | g.77208699A>T | CA381934003 | MYO7A | c.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 | |
11 | g.77208700T>A | CA381934006 | MYO7A | c.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 | |
11 | g.77208700T>C | CA381934008 | MYO7A | c.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 |
11 | g.77208700T>G | CA381934010 | MYO7A | c.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 | |
11 | g.77208700T= | CA1984128565 | MYO7A | c.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= | |
11 | g.77208701T>A | CA475791657 | MYO7A | c.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 | |
11 | g.77208701T>C | CA475791658 | MYO7A | c.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 |
11 | g.77208701T>G | CA381934013 | MYO7A | c.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 | |
11 | g.77208702del | CA2574931873 | MYO7A | c.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 | |
11 | g.77208702G>A | CA6198891 | MYO7A | c.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 |
11 | g.77208702G>C | CA381934019 | MYO7A | c.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 |
11 | g.77208702G= | CA1984128566 | MYO7A | c.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= | |
11 | g.77208702G>T | CA6198890 | MYO7A | c.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 |
11 | g.77208703T>A | CA381934030 | MYO7A | c.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 | |
11 | g.77208703T>C | CA381934024 | MYO7A | c.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 |
11 | g.77208703T>G | CA381934027 | MYO7A | c.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 |
11 | g.77208704G>A | CA475791661 | MYO7A | c.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 |
11 | g.77208704G>C | CA475791660 | MYO7A | c.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 | |
11 | g.77208704G>T | CA475791659 | MYO7A | c.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 |
11 | g.77208705C>A | CA381934033 | MYO7A | c.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 |
11 | g.77208705C= | CA1984128567 | MYO7A | c.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= | |
11 | g.77208705C>G | CA381934034 | MYO7A | c.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 | |
11 | g.77208705C>T | CA381934035 | MYO7A | c.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 |
11 | g.77208707dup | CA912973142 | MYO7A | c.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 | |
11 | g.77208707del | CA2574931874 | MYO7A | c.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 | |
11 | g.77208706C>A | CA381934037 | MYO7A | c.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 |
11 | g.77208706C= | CA1984128568 | MYO7A | c.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= | |
11 | g.77208706C>G | CA381934040 | MYO7A | c.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 | |
11 | g.77208706C>T | CA381934042 | MYO7A | c.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 | |
11 | g.77208707C>A | CA475791662 | MYO7A | c.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 | |
11 | g.77208707C>G | CA475791663 | MYO7A | c.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 | |
11 | g.77208707C>T | CA475791664 | MYO7A | c.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 |
11 | g.77208712_77208715dup | CA658822335 | MYO7A | c.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 |
11 | g.77208708T>A | CA381934047 | MYO7A | c.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 |
11 | g.77208708T>C | CA381934050 | MYO7A | c.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 |
11 | g.77208708T>G | CA381934051 | MYO7A | c.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 | |
11 | g.77208709C>A | CA381934056 | MYO7A | c.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 |
11 | g.77208709C= | CA1984128569 | MYO7A | c.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= | |
11 | g.77208709C>G | CA381934058 | MYO7A | c.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 | |
11 | g.77208709C>T | CA381934061 | MYO7A | c.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 |
11 | g.77208710_77208711del | CA2615256010 | MYO7A | c.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 |
11 | g.77208710A>C | CA475791665 | MYO7A | c.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 |
11 | g.77208710A>G | CA475791666 | MYO7A | c.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 |
11 | g.77208710A>T | CA475791667 | MYO7A | c.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 |
11 | g.77208710dup | CA2695215064 | MYO7A | c.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 | |
11 | g.77208711C>A | CA381934064 | MYO7A | c.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 |
11 | g.77208711C>G | CA381934069 | MYO7A | c.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 | |
11 | g.77208711C>T | CA381934067 | MYO7A | c.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 | |
11 | g.77208712T>A | CA381934073 | MYO7A | c.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 |
11 | g.77208712T>C | CA381934076 | MYO7A | c.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 |
11 | g.77208712T>G | CA381934078 | MYO7A | c.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 | |
11 | g.77208713C>A | CA475791668 | MYO7A | c.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 |
11 | g.77208713C= | CA1984128570 | MYO7A | c.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= | |
11 | g.77208713C>G | CA475791669 | MYO7A | c.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 | |
11 | g.77208713C>T | CA6198892 | MYO7A | c.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 |
11 | g.77208714A= | CA1984128571 | MYO7A | c.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= | |
11 | g.77208714A>C | CA381934086 | MYO7A | c.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 |
11 | g.77208714A>G | CA381934089 | MYO7A | c.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 |
11 | g.77208714A>T | CA381934091 | MYO7A | c.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 |
11 | g.77208715C>A | CA381934095 | MYO7A | c.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 |
11 | g.77208715C= | CA1984128572 | MYO7A | c.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= | |
11 | g.77208715C>G | CA381934098 | MYO7A | c.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 | |
11 | g.77208715C>T | CA381934101 | MYO7A | c.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 |
11 | g.77208716C>A | CA475791670 | MYO7A | c.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 |
11 | g.77208716C= | CA1984128573 | MYO7A | c.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= | |
11 | g.77208716C>G | CA475791671 | MYO7A | c.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 |
11 | g.77208716C>T | CA475791672 | MYO7A | c.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 |
11 | g.77208717T>A | CA381934107 | MYO7A | c.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 | |
11 | g.77208717T>C | CA381934124 | MYO7A | c.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 |
11 | g.77208717T>G | CA381934126 | MYO7A | c.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 |
11 | g.77208718A>C | CA381934132 | MYO7A | c.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 | |
11 | g.77208718A>G | CA381934135 | MYO7A | c.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 |
11 | g.77208718A>T | CA381934133 | MYO7A | c.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 |
11 | g.77208719C>A | CA381934137 | MYO7A | c.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 |
11 | g.77208719C= | CA1984128574 | MYO7A | c.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= | |
11 | g.77208719C>G | CA381934139 | MYO7A | c.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 | |
11 | g.77208719C>T | CA475791673 | MYO7A | c.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 |
11 | g.77208720C>A | CA381934140 | MYO7A | c.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 |
11 | g.77208720C= | CA1984128575 | MYO7A | c.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= | |
11 | g.77208720C>G | CA381934141 | MYO7A | c.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 | |
11 | g.77208720C>T | CA278748 | MYO7A | c.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 |
11 | g.77208721A= | CA1984128576 | MYO7A | c.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= | |
11 | g.77208721A>C | CA381934144 | MYO7A | c.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 |
11 | g.77208721A>G | CA6198893 | MYO7A | c.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 |
11 | g.77208721A>T | CA381934147 | MYO7A | c.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 |
11 | g.77208722G>A | CA475791674 | MYO7A | c.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 |
11 | g.77208722G>C | CA381934149 | MYO7A | c.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 | |
11 | g.77208722G>T | CA381934150 | MYO7A | c.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 |
11 | g.77208723G>A | CA381934154 | MYO7A | c.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 |
11 | g.77208723G>C | CA381934155 | MYO7A | c.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 | |
11 | g.77208723G= | CA1984128577 | MYO7A | c.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= | |
11 | g.77208723G>T | CA381934153 | MYO7A | c.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 |
11 | g.77208724T>A | CA381934160 | MYO7A | c.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 | |
11 | g.77208724T>C | CA381934157 | MYO7A | c.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 |
11 | g.77208724T>G | CA381934159 | MYO7A | c.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 | |
11 | g.77208725G>A | CA475791675 | MYO7A | c.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 |
11 | g.77208725G>C | CA475791677 | MYO7A | c.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 |
11 | g.77208725G>T | CA475791676 | MYO7A | c.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 |
11 | g.77208726T>A | CA6198894 | MYO7A | c.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 |
11 | g.77208726T>C | CA381934164 | MYO7A | c.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 | |
11 | g.77208726T>G | CA381934165 | MYO7A | c.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 | |
11 | g.77208726T= | CA1984128578 | MYO7A | c.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= | |
11 | g.77208727del | CA2574931875 | MYO7A | c.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 | |
11 | g.77208727T>A | CA381934170 | MYO7A | c.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 | |
11 | g.77208727T>C | CA381934169 | MYO7A | c.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 | |
11 | g.77208727T>G | CA381934167 | MYO7A | c.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 | |
11 | g.77208728C>A | CA381934173 | MYO7A | c.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 |
11 | g.77208728C= | CA1984128579 | MYO7A | c.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= | |
11 | g.77208728C>G | CA381934184 | MYO7A | c.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 | |
11 | g.77208728C>T | CA6198895 | MYO7A | c.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 |
11 | g.77208729T>A | CA381934193 | MYO7A | c.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 |
11 | g.77208729T>C | CA381934203 | MYO7A | c.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 | |
11 | g.77208729T>G | CA381934204 | MYO7A | c.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 | |
11 | g.77208730T>A | CA381934208 | MYO7A | c.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 | |
11 | g.77208730T>C | CA381934214 | MYO7A | c.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 |
11 | g.77208730T>G | CA381934210 | MYO7A | c.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 | |
11 | g.77208731C>A | CA381934219 | MYO7A | c.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 |
11 | g.77208731C= | CA1984128580 | MYO7A | c.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= | |
11 | g.77208731C>G | CA381934221 | MYO7A | c.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 |
11 | g.77208731C>T | CA475791679 | MYO7A | c.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 |
11 | g.77208732A>C | CA381934225 | MYO7A | c.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 |
11 | g.77208732A>G | CA381934228 | MYO7A | c.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 |
11 | g.77208732A>T | CA381934230 | MYO7A | c.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 | |
11 | g.77208733T>A | CA381934235 | MYO7A | c.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 | |
11 | g.77208733T>C | CA381934239 | MYO7A | c.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 |
11 | g.77208733T>G | CA381934241 | MYO7A | c.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 |
11 | g.77208733T= | CA1984128581 | MYO7A | c.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= | |
11 | g.77208734G>A | CA381934246 | MYO7A | c.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 |
11 | g.77208734G>C | CA381934248 | MYO7A | c.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 | |
11 | g.77208734G= | CA1984128582 | MYO7A | c.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= | |
11 | g.77208734G>T | CA381934250 | MYO7A | c.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 |
11 | g.77208735A>C | CA381934258 | MYO7A | c.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 | |
11 | g.77208735A>G | CA381934255 | MYO7A | c.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 | |
11 | g.77208735A>T | CA381934253 | MYO7A | c.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 |
11 | g.77208736A>C | CA381934261 | MYO7A | c.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 | |
11 | g.77208736A>G | CA381934263 | MYO7A | c.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 |
11 | g.77208736A>T | CA381934266 | MYO7A | c.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 | |
11 | g.77208737G>A | CA475791680 | MYO7A | c.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 |
11 | g.77208737G>C | CA381934271 | MYO7A | c.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 | |
11 | g.77208737G= | CA1984128583 | MYO7A | c.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= | |
11 | g.77208737G>T | CA381934274 | MYO7A | c.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 |
11 | g.77208738A>C | CA381934277 | MYO7A | c.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 |
11 | g.77208738A>G | CA381934286 | MYO7A | c.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 | |
11 | g.77208738A>T | CA381934291 | MYO7A | c.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 | |
11 | g.77208739A= | CA1984128584 | MYO7A | c.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= | |
11 | g.77208739A>C | CA381934296 | MYO7A | c.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 | |
11 | g.77208739A>G | CA381934300 | MYO7A | c.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 | |
11 | g.77208739A>T | CA381934299 | MYO7A | c.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 |
11 | g.77208739_77208740insCA | CA939778033 | MYO7A | c.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 |
11 | g.77208740G>A | CA475791682 | MYO7A | c.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 | |
11 | g.77208740G>C | CA381934302 | MYO7A | c.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 |
11 | g.77208740G>T | CA381934303 | MYO7A | c.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 |
11 | g.77208741C>A | CA381934307 | MYO7A | c.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 |
11 | g.77208741C>G | CA381934310 | MYO7A | c.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 | |
11 | g.77208741C>T | CA475791683 | MYO7A | c.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 | |
11 | g.77208742T>A | CA381934314 | MYO7A | c.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 |
11 | g.77208742T>C | CA381934320 | MYO7A | c.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 |
11 | g.77208742T>G | CA381934316 | MYO7A | c.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 | |
11 | g.77208743G>A | CA475791684 | MYO7A | c.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 |
11 | g.77208743G>C | CA475791685 | MYO7A | c.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 | |
11 | g.77208743G= | CA1984128585 | MYO7A | c.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= | |
11 | g.77208743G>T | CA475791686 | MYO7A | c.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 |
11 | g.77208744T>A | CA381934324 | MYO7A | c.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 |
11 | g.77208744T>C | CA381934328 | MYO7A | c.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 |
11 | g.77208744T>G | CA381934331 | MYO7A | c.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 | |
11 | g.77208745G>A | CA381934334 | MYO7A | c.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 |
11 | g.77208745G>C | CA381934338 | MYO7A | c.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 | |
11 | g.77208745G>T | CA381934341 | MYO7A | c.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 |
11 | g.77208746del | CA2615256141 | MYO7A | c.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 |
11 | g.77208746G>A | CA381934344 | MYO7A | c.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 | |
11 | g.77208746G>C | CA381934347 | MYO7A | c.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 |
11 | g.77208746G>T | CA381934350 | MYO7A | c.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 |
11 | g.77208747del | CA2574931876 | MYO7A | c.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 | |
11 | g.77208747A= | CA1984128586 | MYO7A | c.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= | |
11 | g.77208747A>C | CA224825479 | MYO7A | c.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 |
11 | g.77208747A>G | CA381934354 | MYO7A | c.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 |
11 | g.77208747A>T | CA381934357 | MYO7A | c.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 | |
11 | g.77208748C>A | CA381934363 | MYO7A | c.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 |
11 | g.77208748C= | CA1984128587 | MYO7A | c.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= | |
11 | g.77208748C>G | CA381934366 | MYO7A | c.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 | |
11 | g.77208748C>T | CA6198896 | MYO7A | c.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 |
11 | g.77208749C>A | CA475791687 | MYO7A | c.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 |
11 | g.77208749C= | CA1984128588 | MYO7A | c.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= | |
11 | g.77208749C>G | CA475791688 | MYO7A | c.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 | |
11 | g.77208749C>T | CA475791689 | MYO7A | c.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 |
11 | g.77208750A>C | CA381934368 | MYO7A | c.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 | |
11 | g.77208750A>G | CA381934376 | MYO7A | c.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 | |
11 | g.77208750A>T | CA381934372 | MYO7A | c.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 |
11 | g.77208750_77208751delinsAC | CA1984128589 | MYO7A | c.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 | |
11 | g.77208751C>A | CA381934380 | MYO7A | c.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 |
11 | g.77208751C>G | CA381934387 | MYO7A | c.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 | |
11 | g.77208751C>T | CA381934384 | MYO7A | c.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 |
11 | g.77208752del | CA600710899 | MYO7A | c.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 |
11 | g.77208752C>A | CA475791690 | MYO7A | c.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 |
11 | g.77208752C= | CA1984128590 | MYO7A | c.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= | |
11 | g.77208752C>G | CA475791691 | MYO7A | c.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 |
11 | g.77208752C>T | CA475791692 | MYO7A | c.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 |
11 | g.77208753A>C | CA381934390 | MYO7A | c.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 | |
11 | g.77208753A>G | CA381934395 | MYO7A | c.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 |
11 | g.77208753A>T | CA381934392 | MYO7A | c.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 | |
11 | g.77208754del | CA2615256207 | MYO7A | c.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 |
11 | g.77208754C>A | CA381934399 | MYO7A | c.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 |
11 | g.77208754C= | CA1984128591 | MYO7A | c.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= | |
11 | g.77208754C>G | CA381934403 | MYO7A | c.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 | |
11 | g.77208754C>T | CA6198897 | MYO7A | c.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 |
11 | g.77208755G>A | CA6198898 | MYO7A | c.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 |
11 | g.77208755G>C | CA475791693 | MYO7A | c.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 | |
11 | g.77208755G= | CA1984128592 | MYO7A | c.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= | |
11 | g.77208755G>T | CA475791694 | MYO7A | c.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 |
11 | g.77208756G>A | CA381934417 | MYO7A | c.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 |
11 | g.77208756G>C | CA381934412 | MYO7A | c.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 | |
11 | g.77208756G= | CA1984128593 | MYO7A | c.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= | |
11 | g.77208756G>T | CA381934414 | MYO7A | c.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 |
11 | g.77208757T>A | CA381934422 | MYO7A | c.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 | |
11 | g.77208757T>C | CA381934424 | MYO7A | c.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 | |
11 | g.77208757T>G | CA381934427 | MYO7A | c.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 | |
11 | g.77208758G>A | CA475791696 | MYO7A | c.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 |
11 | g.77208758G>C | CA475791697 | MYO7A | c.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 | |
11 | g.77208758G= | CA1984128594 | MYO7A | c.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= | |
11 | g.77208758G>T | CA475791695 | MYO7A | c.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 |
11 | g.77208759C>A | CA381934429 | MYO7A | c.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 |
11 | g.77208759C= | CA1984128595 | MYO7A | c.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= | |
11 | g.77208759C>G | CA381934431 | MYO7A | c.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 |
11 | g.77208759C>T | CA381934434 | MYO7A | c.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 |
11 | g.77208760C>A | CA381934437 | MYO7A | c.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 |
11 | g.77208760C= | CA1984128596 | MYO7A | c.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= | |
11 | g.77208760C>G | CA381934440 | MYO7A | c.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 |
11 | g.77208760C>T | CA381934443 | MYO7A | c.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 | |
11 | g.77208761A>C | CA475791700 | MYO7A | c.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 | |
11 | g.77208761A>G | CA475791699 | MYO7A | c.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 |
11 | g.77208761A>T | CA475791698 | MYO7A | c.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 | |
11 | g.77208762G>A | CA381934464 | MYO7A | c.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 | |
11 | g.77208762G>C | CA381934462 | MYO7A | c.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 | |
11 | g.77208762G>T | CA381934447 | MYO7A | c.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 |
11 | g.77208764del | CA2615256259 | MYO7A | c.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 |
11 | g.77208763G>A | CA224825523 | MYO7A | c.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 |
11 | g.77208763G>C | CA381934473 | MYO7A | c.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 | |
11 | g.77208763G= | CA1984128597 | MYO7A | c.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= | |
11 | g.77208763G>T | CA381934476 | MYO7A | c.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 |
11 | g.77208764G>A | CA224825527 | MYO7A | c.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 |
11 | g.77208764G>C | CA475791702 | MYO7A | c.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 | |
11 | g.77208764G= | CA1984128598 | MYO7A | c.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= | |
11 | g.77208764G>T | CA475791701 | MYO7A | c.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 |
11 | g.77208765A= | CA1984128599 | MYO7A | c.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= | |
11 | g.77208765A>C | CA381934483 | MYO7A | c.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 | |
11 | g.77208765A>G | CA132412 | MYO7A | c.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 |
11 | g.77208765A>T | CA381934488 | MYO7A | c.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 |
11 | g.77208766del | CA2615256281 | MYO7A | c.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 |
11 | g.77208766A= | CA1984128600 | MYO7A | c.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= | |
11 | g.77208766A>C | CA381934493 | MYO7A | c.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 |
11 | g.77208766A>G | CA381934497 | MYO7A | c.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 |
11 | g.77208766A>T | CA381934498 | MYO7A | c.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 |
11 | g.77208767G>A | CA475791703 | MYO7A | c.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 |
11 | g.77208767G>C | CA381934502 | MYO7A | c.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 | |
11 | g.77208767G>T | CA381934505 | MYO7A | c.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 |
11 | g.77208768G>A | CA381934517 | MYO7A | c.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 |
11 | g.77208768G>C | CA381934514 | MYO7A | c.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 | |
11 | g.77208768G>T | CA381934509 | MYO7A | c.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 |
11 | g.77208769A>C | CA381934520 | MYO7A | c.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 | |
11 | g.77208769A>G | CA381934523 | MYO7A | c.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 | |
11 | g.77208769A>T | CA381934525 | MYO7A | c.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 | |
11 | g.77208769_77208770del | CA2695215065 | MYO7A | c.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 |
11 | g.77208770T>A | CA381934529 | MYO7A | c.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 | |
11 | g.77208770T>C | CA475791704 | MYO7A | c.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 |
11 | g.77208770T>G | CA381934532 | MYO7A | c.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 | |
11 | g.77208771C>A | CA381934536 | MYO7A | c.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 |
11 | g.77208771C= | CA1984128601 | MYO7A | c.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= | |
11 | g.77208771C>G | CA6198899 | MYO7A | c.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 |
11 | g.77208771C>T | CA381934542 | MYO7A | c.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 | |
11 | g.77208772C>A | CA381934545 | MYO7A | c.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 |
11 | g.77208772C= | CA1984128602 | MYO7A | c.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= | |
11 | g.77208772C>G | CA381934548 | MYO7A | c.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 | |
11 | g.77208772C>T | CA381934551 | MYO7A | c.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 |
11 | g.77208773C>A | CA475791705 | MYO7A | c.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 |
11 | g.77208773C= | CA1984128603 | MYO7A | c.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= | |
11 | g.77208773C>G | CA475791706 | MYO7A | c.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 | |
11 | g.77208773C>T | CA6198900 | MYO7A | c.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 |
11 | g.77208774A= | CA1984128604 | MYO7A | c.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= | |
11 | g.77208774A>C | CA381934565 | MYO7A | c.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 | |
11 | g.77208774A>G | CA6198901 | MYO7A | c.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 |
11 | g.77208774A>T | CA381934562 | MYO7A | c.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 | |
11 | g.77208775T>A | CA381934569 | MYO7A | c.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 | |
11 | g.77208775T>C | CA6198902 | MYO7A | c.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 |
11 | g.77208775T>G | CA381934575 | MYO7A | c.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 | |
11 | g.77208775T= | CA1984128606 | MYO7A | c.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= | |
11 | g.77208775_77208776delinsTG | CA1984128605 | MYO7A | c.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 | |
11 | g.77208776G>A | CA381934581 | MYO7A | c.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 |
11 | g.77208776G>C | CA381934585 | MYO7A | c.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 | |
11 | g.77208776G>T | CA381934587 | MYO7A | c.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 |
11 | g.77208777del | CA278702 | MYO7A | c.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 |
11 | g.77208777G>A | CA132414 | MYO7A | c.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 |
11 | g.77208777G>C | CA381934597 | MYO7A | c.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 |
11 | g.77208777G= | CA1984128607 | MYO7A | c.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= | |
11 | g.77208777G>T | CA381934599 | MYO7A | c.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 |
11 | g.77208778C>A | CA381934605 | MYO7A | c.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 |
11 | g.77208778C= | CA1984128608 | MYO7A | c.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= | |
11 | g.77208778C>G | CA381934609 | MYO7A | c.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 |
11 | g.77208778C>T | CA381934602 | MYO7A | c.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 |
11 | g.77208779C>A | CA475791707 | MYO7A | c.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 |
11 | g.77208779C= | CA1984128609 | MYO7A | c.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= | |
11 | g.77208779C>G | CA475791708 | MYO7A | c.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 | |
11 | g.77208779C>T | CA6198903 | MYO7A | c.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 |
11 | g.77208780G>A | CA6198904 | MYO7A | c.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 |
11 | g.77208780G>C | CA381934617 | MYO7A | c.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 |
11 | g.77208780G= | CA1984128610 | MYO7A | c.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= | |
11 | g.77208780G>T | CA381934630 | MYO7A | c.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 |
11 | g.77208781A= | CA1984128611 | MYO7A | c.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= | |
11 | g.77208781A>C | CA381934634 | MYO7A | c.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 | |
11 | g.77208781A>G | CA278703 | MYO7A | c.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 |
11 | g.77208781A>T | CA381934639 | MYO7A | c.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 |