Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.75914034G>A | CA3897730 | MYO6 | c.3344-29G>A (n.3344-29G>A) c.3440-29G>A (n.3440-29G>A) c.3371-29G>A (n.3371-29G>A) c.3467-29G>A (n.3467-29G>A) c.*1451-29G>A (n.*1451-29G>A) n.1606-29G>A c.3470-29G>A (n.3470-29G>A) c.3428-29G>A (n.3428-29G>A) c.3413-29G>A (n.3413-29G>A) c.3401-29G>A (n.3401-29G>A) c.3374-29G>A (n.3374-29G>A) c.3356-29G>A (n.3356-29G>A) n.3669-29G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.75914034_75914040del | CA2497157110 | MYO6 | c.3344-29_3344-23del (n.3344-29_3344-23del) c.3440-29_3440-23del (n.3440-29_3440-23del) c.3371-29_3371-23del (n.3371-29_3371-23del) c.3467-29_3467-23del (n.3467-29_3467-23del) c.*1451-29_*1451-23del (n.*1451-29_*1451-23del) n.1606-29_1606-23del c.3470-29_3470-23del (n.3470-29_3470-23del) c.3428-29_3428-23del (n.3428-29_3428-23del) c.3413-29_3413-23del (n.3413-29_3413-23del) c.3401-29_3401-23del (n.3401-29_3401-23del) c.3374-29_3374-23del (n.3374-29_3374-23del) c.3356-29_3356-23del (n.3356-29_3356-23del) n.3669-29_3669-23del | dbSNP |
6 | g.75914035G>T | CA568152421 | MYO6 | c.3344-28G>T (n.3344-28G>T) c.3440-28G>T (n.3440-28G>T) c.3371-28G>T (n.3371-28G>T) c.3467-28G>T (n.3467-28G>T) c.*1451-28G>T (n.*1451-28G>T) n.1606-28G>T c.3470-28G>T (n.3470-28G>T) c.3428-28G>T (n.3428-28G>T) c.3413-28G>T (n.3413-28G>T) c.3401-28G>T (n.3401-28G>T) c.3374-28G>T (n.3374-28G>T) c.3356-28G>T (n.3356-28G>T) n.3669-28G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.75914036_75914040del | CA2771759965 | MYO6 | c.3344-27_3344-23del (n.3344-27_3344-23del) c.3440-27_3440-23del (n.3440-27_3440-23del) c.3371-27_3371-23del (n.3371-27_3371-23del) c.3467-27_3467-23del (n.3467-27_3467-23del) c.*1451-27_*1451-23del (n.*1451-27_*1451-23del) n.1606-27_1606-23del c.3470-27_3470-23del (n.3470-27_3470-23del) c.3428-27_3428-23del (n.3428-27_3428-23del) c.3413-27_3413-23del (n.3413-27_3413-23del) c.3401-27_3401-23del (n.3401-27_3401-23del) c.3374-27_3374-23del (n.3374-27_3374-23del) c.3356-27_3356-23del (n.3356-27_3356-23del) n.3669-27_3669-23del | |
6 | g.75914037A>G | CA3897731 | MYO6 | c.3344-26A>G (n.3344-26A>G) c.3440-26A>G (n.3440-26A>G) c.3371-26A>G (n.3371-26A>G) c.3467-26A>G (n.3467-26A>G) c.*1451-26A>G (n.*1451-26A>G) n.1606-26A>G c.3470-26A>G (n.3470-26A>G) c.3428-26A>G (n.3428-26A>G) c.3413-26A>G (n.3413-26A>G) c.3401-26A>G (n.3401-26A>G) c.3374-26A>G (n.3374-26A>G) c.3356-26A>G (n.3356-26A>G) n.3669-26A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.75914039A>T | CA568152424 | MYO6 | c.3344-24A>T (n.3344-24A>T) c.3440-24A>T (n.3440-24A>T) c.3371-24A>T (n.3371-24A>T) c.3467-24A>T (n.3467-24A>T) c.*1451-24A>T (n.*1451-24A>T) n.1606-24A>T c.3470-24A>T (n.3470-24A>T) c.3428-24A>T (n.3428-24A>T) c.3413-24A>T (n.3413-24A>T) c.3401-24A>T (n.3401-24A>T) c.3374-24A>T (n.3374-24A>T) c.3356-24A>T (n.3356-24A>T) n.3669-24A>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.75914040A>G | CA3897732 | MYO6 | c.3344-23A>G (n.3344-23A>G) c.3440-23A>G (n.3440-23A>G) c.3371-23A>G (n.3371-23A>G) c.3467-23A>G (n.3467-23A>G) c.*1451-23A>G (n.*1451-23A>G) n.1606-23A>G c.3470-23A>G (n.3470-23A>G) c.3428-23A>G (n.3428-23A>G) c.3413-23A>G (n.3413-23A>G) c.3401-23A>G (n.3401-23A>G) c.3374-23A>G (n.3374-23A>G) c.3356-23A>G (n.3356-23A>G) n.3669-23A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.75914041C>A | CA2679455985 | MYO6 | c.3344-22C>A (n.3344-22C>A) c.3440-22C>A (n.3440-22C>A) c.3371-22C>A (n.3371-22C>A) c.3467-22C>A (n.3467-22C>A) c.*1451-22C>A (n.*1451-22C>A) n.1606-22C>A c.3470-22C>A (n.3470-22C>A) c.3428-22C>A (n.3428-22C>A) c.3413-22C>A (n.3413-22C>A) c.3401-22C>A (n.3401-22C>A) c.3374-22C>A (n.3374-22C>A) c.3356-22C>A (n.3356-22C>A) n.3669-22C>A | dbSNP gnomAD v4 |
6 | g.75914041C>G | CA568152425 | MYO6 | c.3344-22C>G (n.3344-22C>G) c.3440-22C>G (n.3440-22C>G) c.3371-22C>G (n.3371-22C>G) c.3467-22C>G (n.3467-22C>G) c.*1451-22C>G (n.*1451-22C>G) n.1606-22C>G c.3470-22C>G (n.3470-22C>G) c.3428-22C>G (n.3428-22C>G) c.3413-22C>G (n.3413-22C>G) c.3401-22C>G (n.3401-22C>G) c.3374-22C>G (n.3374-22C>G) c.3356-22C>G (n.3356-22C>G) n.3669-22C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.75914041C>T | CA3897733 | MYO6 | c.3344-22C>T (n.3344-22C>T) c.3440-22C>T (n.3440-22C>T) c.3371-22C>T (n.3371-22C>T) c.3467-22C>T (n.3467-22C>T) c.*1451-22C>T (n.*1451-22C>T) n.1606-22C>T c.3470-22C>T (n.3470-22C>T) c.3428-22C>T (n.3428-22C>T) c.3413-22C>T (n.3413-22C>T) c.3401-22C>T (n.3401-22C>T) c.3374-22C>T (n.3374-22C>T) c.3356-22C>T (n.3356-22C>T) n.3669-22C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.75914042T>C | CA2679455988 | MYO6 | c.3344-21T>C (n.3344-21T>C) c.3440-21T>C (n.3440-21T>C) c.3371-21T>C (n.3371-21T>C) c.3467-21T>C (n.3467-21T>C) c.*1451-21T>C (n.*1451-21T>C) n.1606-21T>C c.3470-21T>C (n.3470-21T>C) c.3428-21T>C (n.3428-21T>C) c.3413-21T>C (n.3413-21T>C) c.3401-21T>C (n.3401-21T>C) c.3374-21T>C (n.3374-21T>C) c.3356-21T>C (n.3356-21T>C) n.3669-21T>C | gnomAD v4 |
6 | g.75914044T>C | CA2679455989 | MYO6 | c.3344-19T>C (n.3344-19T>C) c.3440-19T>C (n.3440-19T>C) c.3371-19T>C (n.3371-19T>C) c.3467-19T>C (n.3467-19T>C) c.*1451-19T>C (n.*1451-19T>C) n.1606-19T>C c.3470-19T>C (n.3470-19T>C) c.3428-19T>C (n.3428-19T>C) c.3413-19T>C (n.3413-19T>C) c.3401-19T>C (n.3401-19T>C) c.3374-19T>C (n.3374-19T>C) c.3356-19T>C (n.3356-19T>C) n.3669-19T>C | gnomAD v4 |
6 | g.75914045C>T | CA568152426 | MYO6 | c.3344-18C>T (n.3344-18C>T) c.3440-18C>T (n.3440-18C>T) c.3371-18C>T (n.3371-18C>T) c.3467-18C>T (n.3467-18C>T) c.*1451-18C>T (n.*1451-18C>T) n.1606-18C>T c.3470-18C>T (n.3470-18C>T) c.3428-18C>T (n.3428-18C>T) c.3413-18C>T (n.3413-18C>T) c.3401-18C>T (n.3401-18C>T) c.3374-18C>T (n.3374-18C>T) c.3356-18C>T (n.3356-18C>T) n.3669-18C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.75914048T>C | CA2679455991 | MYO6 | c.3344-15T>C (n.3344-15T>C) c.3440-15T>C (n.3440-15T>C) c.3371-15T>C (n.3371-15T>C) c.3467-15T>C (n.3467-15T>C) c.*1451-15T>C (n.*1451-15T>C) n.1606-15T>C c.3470-15T>C (n.3470-15T>C) c.3428-15T>C (n.3428-15T>C) c.3413-15T>C (n.3413-15T>C) c.3401-15T>C (n.3401-15T>C) c.3374-15T>C (n.3374-15T>C) c.3356-15T>C (n.3356-15T>C) n.3669-15T>C | gnomAD v4 |
6 | g.75914049G>A | CA828152943 | MYO6 | c.3344-14G>A (n.3344-14G>A) c.3440-14G>A (n.3440-14G>A) c.3371-14G>A (n.3371-14G>A) c.3467-14G>A (n.3467-14G>A) c.*1451-14G>A (n.*1451-14G>A) n.1606-14G>A c.3470-14G>A (n.3470-14G>A) c.3428-14G>A (n.3428-14G>A) c.3413-14G>A (n.3413-14G>A) c.3401-14G>A (n.3401-14G>A) c.3374-14G>A (n.3374-14G>A) c.3356-14G>A (n.3356-14G>A) n.3669-14G>A | dbSNP gnomAD v4 |
6 | g.75914051T>A | CA2679455992 | MYO6 | c.3344-12T>A (n.3344-12T>A) c.3440-12T>A (n.3440-12T>A) c.3371-12T>A (n.3371-12T>A) c.3467-12T>A (n.3467-12T>A) c.*1451-12T>A (n.*1451-12T>A) n.1606-12T>A c.3470-12T>A (n.3470-12T>A) c.3428-12T>A (n.3428-12T>A) c.3413-12T>A (n.3413-12T>A) c.3401-12T>A (n.3401-12T>A) c.3374-12T>A (n.3374-12T>A) c.3356-12T>A (n.3356-12T>A) n.3669-12T>A | gnomAD v4 |
6 | g.75914052C>T | CA2578673938 | MYO6 | c.3344-11C>T (n.3344-11C>T) c.3440-11C>T (n.3440-11C>T) c.3371-11C>T (n.3371-11C>T) c.3467-11C>T (n.3467-11C>T) c.*1451-11C>T (n.*1451-11C>T) n.1606-11C>T c.3470-11C>T (n.3470-11C>T) c.3428-11C>T (n.3428-11C>T) c.3413-11C>T (n.3413-11C>T) c.3401-11C>T (n.3401-11C>T) c.3374-11C>T (n.3374-11C>T) c.3356-11C>T (n.3356-11C>T) n.3669-11C>T | dbSNP gnomAD v4 |
6 | g.75914054G>A | CA141060087 | MYO6 | c.3344-9G>A (n.3344-9G>A) c.3440-9G>A (n.3440-9G>A) c.3371-9G>A (n.3371-9G>A) c.3467-9G>A (n.3467-9G>A) c.*1451-9G>A (n.*1451-9G>A) n.1606-9G>A c.3470-9G>A (n.3470-9G>A) c.3428-9G>A (n.3428-9G>A) c.3413-9G>A (n.3413-9G>A) c.3401-9G>A (n.3401-9G>A) c.3374-9G>A (n.3374-9G>A) c.3356-9G>A (n.3356-9G>A) n.3669-9G>A | dbSNP gnomAD v4 |
6 | g.75914055T>C | CA568152427 | MYO6 | c.3344-8T>C (n.3344-8T>C) c.3440-8T>C (n.3440-8T>C) c.3371-8T>C (n.3371-8T>C) c.3467-8T>C (n.3467-8T>C) c.*1451-8T>C (n.*1451-8T>C) n.1606-8T>C c.3470-8T>C (n.3470-8T>C) c.3428-8T>C (n.3428-8T>C) c.3413-8T>C (n.3413-8T>C) c.3401-8T>C (n.3401-8T>C) c.3374-8T>C (n.3374-8T>C) c.3356-8T>C (n.3356-8T>C) n.3669-8T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.75914058A>G | CA3897734 | MYO6 | c.3344-5A>G (n.3344-5A>G) c.3440-5A>G (n.3440-5A>G) c.3371-5A>G (n.3371-5A>G) c.3467-5A>G (n.3467-5A>G) c.*1451-5A>G (n.*1451-5A>G) n.1606-5A>G c.3470-5A>G (n.3470-5A>G) c.3428-5A>G (n.3428-5A>G) c.3413-5A>G (n.3413-5A>G) c.3401-5A>G (n.3401-5A>G) c.3374-5A>G (n.3374-5A>G) c.3356-5A>G (n.3356-5A>G) n.3669-5A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.75914058_75914059dup | CA2497157111 | MYO6 | c.3344-5_3344-4dup (n.3344-5_3344-4dup) c.3440-5_3440-4dup (n.3440-5_3440-4dup) c.3371-5_3371-4dup (n.3371-5_3371-4dup) c.3467-5_3467-4dup (n.3467-5_3467-4dup) c.*1451-5_*1451-4dup (n.*1451-5_*1451-4dup) n.1606-5_1606-4dup c.3470-5_3470-4dup (n.3470-5_3470-4dup) c.3428-5_3428-4dup (n.3428-5_3428-4dup) c.3413-5_3413-4dup (n.3413-5_3413-4dup) c.3401-5_3401-4dup (n.3401-5_3401-4dup) c.3374-5_3374-4dup (n.3374-5_3374-4dup) c.3356-5_3356-4dup (n.3356-5_3356-4dup) n.3669-5_3669-4dup | dbSNP gnomAD v4 |
6 | g.75914059A>G | CA568152431 | MYO6 | c.3344-4A>G (n.3344-4A>G) c.3440-4A>G (n.3440-4A>G) c.3371-4A>G (n.3371-4A>G) c.3467-4A>G (n.3467-4A>G) c.*1451-4A>G (n.*1451-4A>G) n.1606-4A>G c.3470-4A>G (n.3470-4A>G) c.3428-4A>G (n.3428-4A>G) c.3413-4A>G (n.3413-4A>G) c.3401-4A>G (n.3401-4A>G) c.3374-4A>G (n.3374-4A>G) c.3356-4A>G (n.3356-4A>G) n.3669-4A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.75914060T>C | CA3897735 | MYO6 | c.3344-3T>C (n.3344-3T>C) c.3440-3T>C (n.3440-3T>C) c.3371-3T>C (n.3371-3T>C) c.3467-3T>C (n.3467-3T>C) c.*1451-3T>C (n.*1451-3T>C) n.1606-3T>C c.3470-3T>C (n.3470-3T>C) c.3428-3T>C (n.3428-3T>C) c.3413-3T>C (n.3413-3T>C) c.3401-3T>C (n.3401-3T>C) c.3374-3T>C (n.3374-3T>C) c.3356-3T>C (n.3356-3T>C) n.3669-3T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.75914061A>C | CA364760984 | MYO6 | c.3344-2A>C (n.3344-2A>C) c.3440-2A>C (n.3440-2A>C) c.3371-2A>C (n.3371-2A>C) c.3467-2A>C (n.3467-2A>C) c.*1451-2A>C (n.*1451-2A>C) n.1606-2A>C c.3470-2A>C (n.3470-2A>C) c.3428-2A>C (n.3428-2A>C) c.3413-2A>C (n.3413-2A>C) c.3401-2A>C (n.3401-2A>C) c.3374-2A>C (n.3374-2A>C) c.3356-2A>C (n.3356-2A>C) n.3669-2A>C | |
6 | g.75914061A>G | CA364760985 | MYO6 | c.3344-2A>G (n.3344-2A>G) c.3440-2A>G (n.3440-2A>G) c.3371-2A>G (n.3371-2A>G) c.3467-2A>G (n.3467-2A>G) c.*1451-2A>G (n.*1451-2A>G) n.1606-2A>G c.3470-2A>G (n.3470-2A>G) c.3428-2A>G (n.3428-2A>G) c.3413-2A>G (n.3413-2A>G) c.3401-2A>G (n.3401-2A>G) c.3374-2A>G (n.3374-2A>G) c.3356-2A>G (n.3356-2A>G) n.3669-2A>G | |
6 | g.75914061A>T | CA364760987 | MYO6 | c.3344-2A>T (n.3344-2A>T) c.3440-2A>T (n.3440-2A>T) c.3371-2A>T (n.3371-2A>T) c.3467-2A>T (n.3467-2A>T) c.*1451-2A>T (n.*1451-2A>T) n.1606-2A>T c.3470-2A>T (n.3470-2A>T) c.3428-2A>T (n.3428-2A>T) c.3413-2A>T (n.3413-2A>T) c.3401-2A>T (n.3401-2A>T) c.3374-2A>T (n.3374-2A>T) c.3356-2A>T (n.3356-2A>T) n.3669-2A>T | |
6 | g.75914062G>A | CA364760989 | MYO6 | c.3344-1G>A (n.3344-1G>A) c.3440-1G>A (n.3440-1G>A) c.3371-1G>A (n.3371-1G>A) c.3467-1G>A (n.3467-1G>A) c.*1451-1G>A (n.*1451-1G>A) n.1606-1G>A c.3470-1G>A (n.3470-1G>A) c.3428-1G>A (n.3428-1G>A) c.3413-1G>A (n.3413-1G>A) c.3401-1G>A (n.3401-1G>A) c.3374-1G>A (n.3374-1G>A) c.3356-1G>A (n.3356-1G>A) n.3669-1G>A | |
6 | g.75914062G>C | CA364760990 | MYO6 | c.3344-1G>C (n.3344-1G>C) c.3440-1G>C (n.3440-1G>C) c.3371-1G>C (n.3371-1G>C) c.3467-1G>C (n.3467-1G>C) c.*1451-1G>C (n.*1451-1G>C) n.1606-1G>C c.3470-1G>C (n.3470-1G>C) c.3428-1G>C (n.3428-1G>C) c.3413-1G>C (n.3413-1G>C) c.3401-1G>C (n.3401-1G>C) c.3374-1G>C (n.3374-1G>C) c.3356-1G>C (n.3356-1G>C) n.3669-1G>C | |
6 | g.75914062G>T | CA364760992 | MYO6 | c.3344-1G>T (n.3344-1G>T) c.3440-1G>T (n.3440-1G>T) c.3371-1G>T (n.3371-1G>T) c.3467-1G>T (n.3467-1G>T) c.*1451-1G>T (n.*1451-1G>T) n.1606-1G>T c.3470-1G>T (n.3470-1G>T) c.3428-1G>T (n.3428-1G>T) c.3413-1G>T (n.3413-1G>T) c.3401-1G>T (n.3401-1G>T) c.3374-1G>T (n.3374-1G>T) c.3356-1G>T (n.3356-1G>T) n.3669-1G>T | |
6 | g.75914063C>A | CA364760995 | MYO6 | c.3344C>A (p.Ala1115Asp) c.3440C>A (p.Pro1147His) c.3371C>A (p.Pro1124His) c.3467C>A (p.Pro1156His) c.*1451C>A (n.*1451C>A) c.3440C>A (p.Ala1147Asp) n.1606C>A c.3470C>A (p.Pro1157His) c.3428C>A (p.Pro1143His) c.3413C>A (p.Ala1138Asp) c.3401C>A (p.Pro1134His) c.3374C>A (p.Ala1125Asp) c.3401C>A (p.Ala1134Asp) c.3356C>A (p.Pro1119His) n.3669C>A | |
6 | g.75914063C>G | CA364760998 | MYO6 | c.3344C>G (p.Ala1115Gly) c.3440C>G (p.Pro1147Arg) c.3371C>G (p.Pro1124Arg) c.3467C>G (p.Pro1156Arg) c.*1451C>G (n.*1451C>G) c.3440C>G (p.Ala1147Gly) n.1606C>G c.3470C>G (p.Pro1157Arg) c.3428C>G (p.Pro1143Arg) c.3413C>G (p.Ala1138Gly) c.3401C>G (p.Pro1134Arg) c.3374C>G (p.Ala1125Gly) c.3401C>G (p.Ala1134Gly) c.3356C>G (p.Pro1119Arg) n.3669C>G | |
6 | g.75914063C>T | CA3897736 | MYO6 | c.3344C>T (p.Ala1115Val) c.3440C>T (p.Pro1147Leu) c.3371C>T (p.Pro1124Leu) c.3467C>T (p.Pro1156Leu) c.*1451C>T (n.*1451C>T) c.3440C>T (p.Ala1147Val) n.1606C>T c.3470C>T (p.Pro1157Leu) c.3428C>T (p.Pro1143Leu) c.3413C>T (p.Ala1138Val) c.3401C>T (p.Pro1134Leu) c.3374C>T (p.Ala1125Val) c.3401C>T (p.Ala1134Val) c.3356C>T (p.Pro1119Leu) n.3669C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.75914064T>A | CA450938411 | MYO6 | c.3345T>A (p.Ala1115=) c.3441T>A (p.Pro1147=) c.3372T>A (p.Pro1124=) c.3468T>A (p.Pro1156=) c.*1452T>A (n.*1452T>A) c.3441T>A (p.Ala1147=) n.1607T>A c.3471T>A (p.Pro1157=) c.3429T>A (p.Pro1143=) c.3414T>A (p.Ala1138=) c.3402T>A (p.Pro1134=) c.3375T>A (p.Ala1125=) c.3402T>A (p.Ala1134=) c.3357T>A (p.Pro1119=) n.3670T>A | |
6 | g.75914064T>C | CA450938412 | MYO6 | c.3345T>C (p.Ala1115=) c.3441T>C (p.Pro1147=) c.3372T>C (p.Pro1124=) c.3468T>C (p.Pro1156=) c.*1452T>C (n.*1452T>C) c.3441T>C (p.Ala1147=) n.1607T>C c.3471T>C (p.Pro1157=) c.3429T>C (p.Pro1143=) c.3414T>C (p.Ala1138=) c.3402T>C (p.Pro1134=) c.3375T>C (p.Ala1125=) c.3402T>C (p.Ala1134=) c.3357T>C (p.Pro1119=) n.3670T>C | |
6 | g.75914064T>G | CA450938413 | MYO6 | c.3345T>G (p.Ala1115=) c.3441T>G (p.Pro1147=) c.3372T>G (p.Pro1124=) c.3468T>G (p.Pro1156=) c.*1452T>G (n.*1452T>G) c.3441T>G (p.Ala1147=) n.1607T>G c.3471T>G (p.Pro1157=) c.3429T>G (p.Pro1143=) c.3414T>G (p.Ala1138=) c.3402T>G (p.Pro1134=) c.3375T>G (p.Ala1125=) c.3402T>G (p.Ala1134=) c.3357T>G (p.Pro1119=) n.3670T>G | |
6 | g.75914065C>A | CA364760999 | MYO6 | c.3346C>A (p.Gln1116Lys) c.3442C>A (p.Gln1148Lys) c.3373C>A (p.Gln1125Lys) c.3469C>A (p.Gln1157Lys) c.*1453C>A (n.*1453C>A) n.1608C>A c.3472C>A (p.Gln1158Lys) c.3430C>A (p.Gln1144Lys) c.3415C>A (p.Gln1139Lys) c.3403C>A (p.Gln1135Lys) c.3376C>A (p.Gln1126Lys) c.3358C>A (p.Gln1120Lys) n.3671C>A | |
6 | g.75914065C>G | CA364761002 | MYO6 | c.3346C>G (p.Gln1116Glu) c.3442C>G (p.Gln1148Glu) c.3373C>G (p.Gln1125Glu) c.3469C>G (p.Gln1157Glu) c.*1453C>G (n.*1453C>G) n.1608C>G c.3472C>G (p.Gln1158Glu) c.3430C>G (p.Gln1144Glu) c.3415C>G (p.Gln1139Glu) c.3403C>G (p.Gln1135Glu) c.3376C>G (p.Gln1126Glu) c.3358C>G (p.Gln1120Glu) n.3671C>G | |
6 | g.75914065C>T | CA364761004 | MYO6 | c.3346C>T (p.Gln1116Ter) c.3442C>T (p.Gln1148Ter) c.3373C>T (p.Gln1125Ter) c.3469C>T (p.Gln1157Ter) c.*1453C>T (n.*1453C>T) n.1608C>T c.3472C>T (p.Gln1158Ter) c.3430C>T (p.Gln1144Ter) c.3415C>T (p.Gln1139Ter) c.3403C>T (p.Gln1135Ter) c.3376C>T (p.Gln1126Ter) c.3358C>T (p.Gln1120Ter) n.3671C>T | gnomAD v4 |
6 | g.75914066A>C | CA364761006 | MYO6 | c.3347A>C (p.Gln1116Pro) c.3443A>C (p.Gln1148Pro) c.3374A>C (p.Gln1125Pro) c.3470A>C (p.Gln1157Pro) c.*1454A>C (n.*1454A>C) n.1609A>C c.3473A>C (p.Gln1158Pro) c.3431A>C (p.Gln1144Pro) c.3416A>C (p.Gln1139Pro) c.3404A>C (p.Gln1135Pro) c.3377A>C (p.Gln1126Pro) c.3359A>C (p.Gln1120Pro) n.3672A>C | |
6 | g.75914066A>G | CA364761007 | MYO6 | c.3347A>G (p.Gln1116Arg) c.3443A>G (p.Gln1148Arg) c.3374A>G (p.Gln1125Arg) c.3470A>G (p.Gln1157Arg) c.*1454A>G (n.*1454A>G) n.1609A>G c.3473A>G (p.Gln1158Arg) c.3431A>G (p.Gln1144Arg) c.3416A>G (p.Gln1139Arg) c.3404A>G (p.Gln1135Arg) c.3377A>G (p.Gln1126Arg) c.3359A>G (p.Gln1120Arg) n.3672A>G | |
6 | g.75914066A>T | CA364761009 | MYO6 | c.3347A>T (p.Gln1116Leu) c.3443A>T (p.Gln1148Leu) c.3374A>T (p.Gln1125Leu) c.3470A>T (p.Gln1157Leu) c.*1454A>T (n.*1454A>T) n.1609A>T c.3473A>T (p.Gln1158Leu) c.3431A>T (p.Gln1144Leu) c.3416A>T (p.Gln1139Leu) c.3404A>T (p.Gln1135Leu) c.3377A>T (p.Gln1126Leu) c.3359A>T (p.Gln1120Leu) n.3672A>T | |
6 | g.75914067G>A | CA450938415 | MYO6 | c.3348G>A (p.Gln1116=) c.3444G>A (p.Gln1148=) c.3375G>A (p.Gln1125=) c.3471G>A (p.Gln1157=) c.*1455G>A (n.*1455G>A) n.1610G>A c.3474G>A (p.Gln1158=) c.3432G>A (p.Gln1144=) c.3417G>A (p.Gln1139=) c.3405G>A (p.Gln1135=) c.3378G>A (p.Gln1126=) c.3360G>A (p.Gln1120=) n.3673G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
6 | g.75914067G>C | CA364761010 | MYO6 | c.3348G>C (p.Gln1116His) c.3444G>C (p.Gln1148His) c.3375G>C (p.Gln1125His) c.3471G>C (p.Gln1157His) c.*1455G>C (n.*1455G>C) n.1610G>C c.3474G>C (p.Gln1158His) c.3432G>C (p.Gln1144His) c.3417G>C (p.Gln1139His) c.3405G>C (p.Gln1135His) c.3378G>C (p.Gln1126His) c.3360G>C (p.Gln1120His) n.3673G>C | |
6 | g.75914067G>T | CA364761011 | MYO6 | c.3348G>T (p.Gln1116His) c.3444G>T (p.Gln1148His) c.3375G>T (p.Gln1125His) c.3471G>T (p.Gln1157His) c.*1455G>T (n.*1455G>T) n.1610G>T c.3474G>T (p.Gln1158His) c.3432G>T (p.Gln1144His) c.3417G>T (p.Gln1139His) c.3405G>T (p.Gln1135His) c.3378G>T (p.Gln1126His) c.3360G>T (p.Gln1120His) n.3673G>T | |
6 | g.75914067_75914068insAA | CA2771759981 | MYO6 | c.3348_3349insAA (p.Gln1117AsnfsTer17) c.3444_3445insAA (p.Gln1149AsnfsTer17) c.3375_3376insAA (p.Gln1126AsnfsTer17) c.3471_3472insAA (p.Gln1158AsnfsTer17) c.*1455_*1456insAA (n.*1455_*1456insAA) n.1610_1611insAA c.3474_3475insAA (p.Gln1159AsnfsTer17) c.3432_3433insAA (p.Gln1145AsnfsTer17) c.3417_3418insAA (p.Gln1140AsnfsTer17) c.3405_3406insAA (p.Gln1136AsnfsTer17) c.3378_3379insAA (p.Gln1127AsnfsTer17) c.3360_3361insAA (p.Gln1121AsnfsTer17) n.3673_3674insAA | |
6 | g.75914068C>A | CA364761013 | MYO6 | c.3349C>A (p.Gln1117Lys) c.3445C>A (p.Gln1149Lys) c.3376C>A (p.Gln1126Lys) c.3472C>A (p.Gln1158Lys) c.*1456C>A (n.*1456C>A) n.1611C>A c.3475C>A (p.Gln1159Lys) c.3433C>A (p.Gln1145Lys) c.3418C>A (p.Gln1140Lys) c.3406C>A (p.Gln1136Lys) c.3379C>A (p.Gln1127Lys) c.3361C>A (p.Gln1121Lys) n.3674C>A | |
6 | g.75914068C>G | CA364761014 | MYO6 | c.3349C>G (p.Gln1117Glu) c.3445C>G (p.Gln1149Glu) c.3376C>G (p.Gln1126Glu) c.3472C>G (p.Gln1158Glu) c.*1456C>G (n.*1456C>G) n.1611C>G c.3475C>G (p.Gln1159Glu) c.3433C>G (p.Gln1145Glu) c.3418C>G (p.Gln1140Glu) c.3406C>G (p.Gln1136Glu) c.3379C>G (p.Gln1127Glu) c.3361C>G (p.Gln1121Glu) n.3674C>G | |
6 | g.75914068C>T | CA364761015 | MYO6 | c.3349C>T (p.Gln1117Ter) c.3445C>T (p.Gln1149Ter) c.3376C>T (p.Gln1126Ter) c.3472C>T (p.Gln1158Ter) c.*1456C>T (n.*1456C>T) n.1611C>T c.3475C>T (p.Gln1159Ter) c.3433C>T (p.Gln1145Ter) c.3418C>T (p.Gln1140Ter) c.3406C>T (p.Gln1136Ter) c.3379C>T (p.Gln1127Ter) c.3361C>T (p.Gln1121Ter) n.3674C>T | |
6 | g.75914069A>C | CA364761019 | MYO6 | c.3350A>C (p.Gln1117Pro) c.3446A>C (p.Gln1149Pro) c.3377A>C (p.Gln1126Pro) c.3473A>C (p.Gln1158Pro) c.*1457A>C (n.*1457A>C) n.1612A>C c.3476A>C (p.Gln1159Pro) c.3434A>C (p.Gln1145Pro) c.3419A>C (p.Gln1140Pro) c.3407A>C (p.Gln1136Pro) c.3380A>C (p.Gln1127Pro) c.3362A>C (p.Gln1121Pro) n.3675A>C | |
6 | g.75914069A>G | CA141060104 | MYO6 | c.3350A>G (p.Gln1117Arg) c.3446A>G (p.Gln1149Arg) c.3377A>G (p.Gln1126Arg) c.3473A>G (p.Gln1158Arg) c.*1457A>G (n.*1457A>G) n.1612A>G c.3476A>G (p.Gln1159Arg) c.3434A>G (p.Gln1145Arg) c.3419A>G (p.Gln1140Arg) c.3407A>G (p.Gln1136Arg) c.3380A>G (p.Gln1127Arg) c.3362A>G (p.Gln1121Arg) n.3675A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.75914069A>T | CA364761017 | MYO6 | c.3350A>T (p.Gln1117Leu) c.3446A>T (p.Gln1149Leu) c.3377A>T (p.Gln1126Leu) c.3473A>T (p.Gln1158Leu) c.*1457A>T (n.*1457A>T) n.1612A>T c.3476A>T (p.Gln1159Leu) c.3434A>T (p.Gln1145Leu) c.3419A>T (p.Gln1140Leu) c.3407A>T (p.Gln1136Leu) c.3380A>T (p.Gln1127Leu) c.3362A>T (p.Gln1121Leu) n.3675A>T | |
6 | g.75914070A>C | CA364761020 | MYO6 | c.3351A>C (p.Gln1117His) c.3447A>C (p.Gln1149His) c.3378A>C (p.Gln1126His) c.3474A>C (p.Gln1158His) c.*1458A>C (n.*1458A>C) n.1613A>C c.3477A>C (p.Gln1159His) c.3435A>C (p.Gln1145His) c.3420A>C (p.Gln1140His) c.3408A>C (p.Gln1136His) c.3381A>C (p.Gln1127His) c.3363A>C (p.Gln1121His) n.3676A>C | |
6 | g.75914070A>G | CA450938420 | MYO6 | c.3351A>G (p.Gln1117=) c.3447A>G (p.Gln1149=) c.3378A>G (p.Gln1126=) c.3474A>G (p.Gln1158=) c.*1458A>G (n.*1458A>G) n.1613A>G c.3477A>G (p.Gln1159=) c.3435A>G (p.Gln1145=) c.3420A>G (p.Gln1140=) c.3408A>G (p.Gln1136=) c.3381A>G (p.Gln1127=) c.3363A>G (p.Gln1121=) n.3676A>G | |
6 | g.75914070A>T | CA364761022 | MYO6 | c.3351A>T (p.Gln1117His) c.3447A>T (p.Gln1149His) c.3378A>T (p.Gln1126His) c.3474A>T (p.Gln1158His) c.*1458A>T (n.*1458A>T) n.1613A>T c.3477A>T (p.Gln1159His) c.3435A>T (p.Gln1145His) c.3420A>T (p.Gln1140His) c.3408A>T (p.Gln1136His) c.3381A>T (p.Gln1127His) c.3363A>T (p.Gln1121His) n.3676A>T | |
6 | g.75914070_75914071insGG | CA2771759986 | MYO6 | c.3351_3352insGG (p.Asn1118GlyfsTer16) c.3447_3448insGG (p.Asn1150GlyfsTer16) c.3378_3379insGG (p.Asn1127GlyfsTer16) c.3474_3475insGG (p.Asn1159GlyfsTer16) c.*1458_*1459insGG (n.*1458_*1459insGG) n.1613_1614insGG c.3477_3478insGG (p.Asn1160GlyfsTer16) c.3435_3436insGG (p.Asn1146GlyfsTer16) c.3420_3421insGG (p.Asn1141GlyfsTer16) c.3408_3409insGG (p.Asn1137GlyfsTer16) c.3381_3382insGG (p.Asn1128GlyfsTer16) c.3363_3364insGG (p.Asn1122GlyfsTer16) n.3676_3677insGG | |
6 | g.75914071A>C | CA364761027 | MYO6 | c.3352A>C (p.Asn1118His) c.3448A>C (p.Asn1150His) c.3379A>C (p.Asn1127His) c.3475A>C (p.Asn1159His) c.*1459A>C (n.*1459A>C) n.1614A>C c.3478A>C (p.Asn1160His) c.3436A>C (p.Asn1146His) c.3421A>C (p.Asn1141His) c.3409A>C (p.Asn1137His) c.3382A>C (p.Asn1128His) c.3364A>C (p.Asn1122His) n.3677A>C | |
6 | g.75914071A>G | CA141060114 | MYO6 | c.3352A>G (p.Asn1118Asp) c.3448A>G (p.Asn1150Asp) c.3379A>G (p.Asn1127Asp) c.3475A>G (p.Asn1159Asp) c.*1459A>G (n.*1459A>G) n.1614A>G c.3478A>G (p.Asn1160Asp) c.3436A>G (p.Asn1146Asp) c.3421A>G (p.Asn1141Asp) c.3409A>G (p.Asn1137Asp) c.3382A>G (p.Asn1128Asp) c.3364A>G (p.Asn1122Asp) n.3677A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.75914071A>T | CA364761032 | MYO6 | c.3352A>T (p.Asn1118Tyr) c.3448A>T (p.Asn1150Tyr) c.3379A>T (p.Asn1127Tyr) c.3475A>T (p.Asn1159Tyr) c.*1459A>T (n.*1459A>T) n.1614A>T c.3478A>T (p.Asn1160Tyr) c.3436A>T (p.Asn1146Tyr) c.3421A>T (p.Asn1141Tyr) c.3409A>T (p.Asn1137Tyr) c.3382A>T (p.Asn1128Tyr) c.3364A>T (p.Asn1122Tyr) n.3677A>T | |
6 | g.75914072A>C | CA364761036 | MYO6 | c.3353A>C (p.Asn1118Thr) c.3449A>C (p.Asn1150Thr) c.3380A>C (p.Asn1127Thr) c.3476A>C (p.Asn1159Thr) c.*1460A>C (n.*1460A>C) n.1615A>C c.3479A>C (p.Asn1160Thr) c.3437A>C (p.Asn1146Thr) c.3422A>C (p.Asn1141Thr) c.3410A>C (p.Asn1137Thr) c.3383A>C (p.Asn1128Thr) c.3365A>C (p.Asn1122Thr) n.3678A>C | dbSNP |
6 | g.75914072A>G | CA364761039 | MYO6 | c.3353A>G (p.Asn1118Ser) c.3449A>G (p.Asn1150Ser) c.3380A>G (p.Asn1127Ser) c.3476A>G (p.Asn1159Ser) c.*1460A>G (n.*1460A>G) n.1615A>G c.3479A>G (p.Asn1160Ser) c.3437A>G (p.Asn1146Ser) c.3422A>G (p.Asn1141Ser) c.3410A>G (p.Asn1137Ser) c.3383A>G (p.Asn1128Ser) c.3365A>G (p.Asn1122Ser) n.3678A>G | dbSNP |
6 | g.75914072A>T | CA364761040 | MYO6 | c.3353A>T (p.Asn1118Ile) c.3449A>T (p.Asn1150Ile) c.3380A>T (p.Asn1127Ile) c.3476A>T (p.Asn1159Ile) c.*1460A>T (n.*1460A>T) n.1615A>T c.3479A>T (p.Asn1160Ile) c.3437A>T (p.Asn1146Ile) c.3422A>T (p.Asn1141Ile) c.3410A>T (p.Asn1137Ile) c.3383A>T (p.Asn1128Ile) c.3365A>T (p.Asn1122Ile) n.3678A>T | dbSNP |
6 | g.75914072_75914073insAGTTAT | CA2771759992 | MYO6 | c.3353_3354insAGTTAT (p.Asn1118delinsLysValIle) c.3449_3450insAGTTAT (p.Asn1150delinsLysValIle) c.3380_3381insAGTTAT (p.Asn1127delinsLysValIle) c.3476_3477insAGTTAT (p.Asn1159delinsLysValIle) c.*1460_*1461insAGTTAT (n.*1460_*1461insAGTTAT) n.1615_1616insAGTTAT c.3479_3480insAGTTAT (p.Asn1160delinsLysValIle) c.3437_3438insAGTTAT (p.Asn1146delinsLysValIle) c.3422_3423insAGTTAT (p.Asn1141delinsLysValIle) c.3410_3411insAGTTAT (p.Asn1137delinsLysValIle) c.3383_3384insAGTTAT (p.Asn1128delinsLysValIle) c.3365_3366insAGTTAT (p.Asn1122delinsLysValIle) n.3678_3679insAGTTAT | |
6 | g.75914073C>A | CA364761043 | MYO6 | c.3354C>A (p.Asn1118Lys) c.3450C>A (p.Asn1150Lys) c.3381C>A (p.Asn1127Lys) c.3477C>A (p.Asn1159Lys) c.*1461C>A (n.*1461C>A) n.1616C>A c.3480C>A (p.Asn1160Lys) c.3438C>A (p.Asn1146Lys) c.3423C>A (p.Asn1141Lys) c.3411C>A (p.Asn1137Lys) c.3384C>A (p.Asn1128Lys) c.3366C>A (p.Asn1122Lys) n.3679C>A | |
6 | g.75914073C>G | CA364761050 | MYO6 | c.3354C>G (p.Asn1118Lys) c.3450C>G (p.Asn1150Lys) c.3381C>G (p.Asn1127Lys) c.3477C>G (p.Asn1159Lys) c.*1461C>G (n.*1461C>G) n.1616C>G c.3480C>G (p.Asn1160Lys) c.3438C>G (p.Asn1146Lys) c.3423C>G (p.Asn1141Lys) c.3411C>G (p.Asn1137Lys) c.3384C>G (p.Asn1128Lys) c.3366C>G (p.Asn1122Lys) n.3679C>G | |
6 | g.75914073C>T | CA450938424 | MYO6 | c.3354C>T (p.Asn1118=) c.3450C>T (p.Asn1150=) c.3381C>T (p.Asn1127=) c.3477C>T (p.Asn1159=) c.*1461C>T (n.*1461C>T) n.1616C>T c.3480C>T (p.Asn1160=) c.3438C>T (p.Asn1146=) c.3423C>T (p.Asn1141=) c.3411C>T (p.Asn1137=) c.3384C>T (p.Asn1128=) c.3366C>T (p.Asn1122=) n.3679C>T | |
6 | g.75914074C>A | CA364761053 | MYO6 | c.3355C>A (p.Pro1119Thr) c.3451C>A (p.Pro1151Thr) c.3382C>A (p.Pro1128Thr) c.3478C>A (p.Pro1160Thr) c.*1462C>A (n.*1462C>A) n.1617C>A c.3481C>A (p.Pro1161Thr) c.3439C>A (p.Pro1147Thr) c.3424C>A (p.Pro1142Thr) c.3412C>A (p.Pro1138Thr) c.3385C>A (p.Pro1129Thr) c.3367C>A (p.Pro1123Thr) n.3680C>A | gnomAD v4 |
6 | g.75914074C>G | CA364761056 | MYO6 | c.3355C>G (p.Pro1119Ala) c.3451C>G (p.Pro1151Ala) c.3382C>G (p.Pro1128Ala) c.3478C>G (p.Pro1160Ala) c.*1462C>G (n.*1462C>G) n.1617C>G c.3481C>G (p.Pro1161Ala) c.3439C>G (p.Pro1147Ala) c.3424C>G (p.Pro1142Ala) c.3412C>G (p.Pro1138Ala) c.3385C>G (p.Pro1129Ala) c.3367C>G (p.Pro1123Ala) n.3680C>G | |
6 | g.75914074C>T | CA364761059 | MYO6 | c.3355C>T (p.Pro1119Ser) c.3451C>T (p.Pro1151Ser) c.3382C>T (p.Pro1128Ser) c.3478C>T (p.Pro1160Ser) c.*1462C>T (n.*1462C>T) n.1617C>T c.3481C>T (p.Pro1161Ser) c.3439C>T (p.Pro1147Ser) c.3424C>T (p.Pro1142Ser) c.3412C>T (p.Pro1138Ser) c.3385C>T (p.Pro1129Ser) c.3367C>T (p.Pro1123Ser) n.3680C>T | |
6 | g.75914075C>A | CA364761065 | MYO6 | c.3356C>A (p.Pro1119Gln) c.3452C>A (p.Pro1151Gln) c.3383C>A (p.Pro1128Gln) c.3479C>A (p.Pro1160Gln) c.*1463C>A (n.*1463C>A) n.1618C>A c.3482C>A (p.Pro1161Gln) c.3440C>A (p.Pro1147Gln) c.3425C>A (p.Pro1142Gln) c.3413C>A (p.Pro1138Gln) c.3386C>A (p.Pro1129Gln) c.3368C>A (p.Pro1123Gln) n.3681C>A | |
6 | g.75914075C>G | CA364761067 | MYO6 | c.3356C>G (p.Pro1119Arg) c.3452C>G (p.Pro1151Arg) c.3383C>G (p.Pro1128Arg) c.3479C>G (p.Pro1160Arg) c.*1463C>G (n.*1463C>G) n.1618C>G c.3482C>G (p.Pro1161Arg) c.3440C>G (p.Pro1147Arg) c.3425C>G (p.Pro1142Arg) c.3413C>G (p.Pro1138Arg) c.3386C>G (p.Pro1129Arg) c.3368C>G (p.Pro1123Arg) n.3681C>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.75914075C>T | CA364761062 | MYO6 | c.3356C>T (p.Pro1119Leu) c.3452C>T (p.Pro1151Leu) c.3383C>T (p.Pro1128Leu) c.3479C>T (p.Pro1160Leu) c.*1463C>T (n.*1463C>T) n.1618C>T c.3482C>T (p.Pro1161Leu) c.3440C>T (p.Pro1147Leu) c.3425C>T (p.Pro1142Leu) c.3413C>T (p.Pro1138Leu) c.3386C>T (p.Pro1129Leu) c.3368C>T (p.Pro1123Leu) n.3681C>T | COSMIC COSMIC |
6 | g.75914076A>C | CA450938430 | MYO6 | c.3357A>C (p.Pro1119=) c.3453A>C (p.Pro1151=) c.3384A>C (p.Pro1128=) c.3480A>C (p.Pro1160=) c.*1464A>C (n.*1464A>C) n.1619A>C c.3483A>C (p.Pro1161=) c.3441A>C (p.Pro1147=) c.3426A>C (p.Pro1142=) c.3414A>C (p.Pro1138=) c.3387A>C (p.Pro1129=) c.3369A>C (p.Pro1123=) n.3682A>C | |
6 | g.75914076A>G | CA450938432 | MYO6 | c.3357A>G (p.Pro1119=) c.3453A>G (p.Pro1151=) c.3384A>G (p.Pro1128=) c.3480A>G (p.Pro1160=) c.*1464A>G (n.*1464A>G) n.1619A>G c.3483A>G (p.Pro1161=) c.3441A>G (p.Pro1147=) c.3426A>G (p.Pro1142=) c.3414A>G (p.Pro1138=) c.3387A>G (p.Pro1129=) c.3369A>G (p.Pro1123=) n.3682A>G | |
6 | g.75914076A>T | CA450938428 | MYO6 | c.3357A>T (p.Pro1119=) c.3453A>T (p.Pro1151=) c.3384A>T (p.Pro1128=) c.3480A>T (p.Pro1160=) c.*1464A>T (n.*1464A>T) n.1619A>T c.3483A>T (p.Pro1161=) c.3441A>T (p.Pro1147=) c.3426A>T (p.Pro1142=) c.3414A>T (p.Pro1138=) c.3387A>T (p.Pro1129=) c.3369A>T (p.Pro1123=) n.3682A>T | |
6 | g.75914077G>A | CA364761071 | MYO6 | c.3358G>A (p.Ala1120Thr) c.3454G>A (p.Ala1152Thr) c.3385G>A (p.Ala1129Thr) c.3481G>A (p.Ala1161Thr) c.*1465G>A (n.*1465G>A) n.1620G>A c.3484G>A (p.Ala1162Thr) c.3442G>A (p.Ala1148Thr) c.3427G>A (p.Ala1143Thr) c.3415G>A (p.Ala1139Thr) c.3388G>A (p.Ala1130Thr) c.3370G>A (p.Ala1124Thr) n.3683G>A | |
6 | g.75914077G>C | CA364761073 | MYO6 | c.3358G>C (p.Ala1120Pro) c.3454G>C (p.Ala1152Pro) c.3385G>C (p.Ala1129Pro) c.3481G>C (p.Ala1161Pro) c.*1465G>C (n.*1465G>C) n.1620G>C c.3484G>C (p.Ala1162Pro) c.3442G>C (p.Ala1148Pro) c.3427G>C (p.Ala1143Pro) c.3415G>C (p.Ala1139Pro) c.3388G>C (p.Ala1130Pro) c.3370G>C (p.Ala1124Pro) n.3683G>C | |
6 | g.75914077G>T | CA364761074 | MYO6 | c.3358G>T (p.Ala1120Ser) c.3454G>T (p.Ala1152Ser) c.3385G>T (p.Ala1129Ser) c.3481G>T (p.Ala1161Ser) c.*1465G>T (n.*1465G>T) n.1620G>T c.3484G>T (p.Ala1162Ser) c.3442G>T (p.Ala1148Ser) c.3427G>T (p.Ala1143Ser) c.3415G>T (p.Ala1139Ser) c.3388G>T (p.Ala1130Ser) c.3370G>T (p.Ala1124Ser) n.3683G>T | |
6 | g.75914078C>A | CA364761079 | MYO6 | c.3359C>A (p.Ala1120Glu) c.3455C>A (p.Ala1152Glu) c.3386C>A (p.Ala1129Glu) c.3482C>A (p.Ala1161Glu) c.*1466C>A (n.*1466C>A) n.1621C>A c.3485C>A (p.Ala1162Glu) c.3443C>A (p.Ala1148Glu) c.3428C>A (p.Ala1143Glu) c.3416C>A (p.Ala1139Glu) c.3389C>A (p.Ala1130Glu) c.3371C>A (p.Ala1124Glu) n.3684C>A | |
6 | g.75914078C>G | CA364761080 | MYO6 | c.3359C>G (p.Ala1120Gly) c.3455C>G (p.Ala1152Gly) c.3386C>G (p.Ala1129Gly) c.3482C>G (p.Ala1161Gly) c.*1466C>G (n.*1466C>G) n.1621C>G c.3485C>G (p.Ala1162Gly) c.3443C>G (p.Ala1148Gly) c.3428C>G (p.Ala1143Gly) c.3416C>G (p.Ala1139Gly) c.3389C>G (p.Ala1130Gly) c.3371C>G (p.Ala1124Gly) n.3684C>G | gnomAD v4 |
6 | g.75914078C>T | CA364761083 | MYO6 | c.3359C>T (p.Ala1120Val) c.3455C>T (p.Ala1152Val) c.3386C>T (p.Ala1129Val) c.3482C>T (p.Ala1161Val) c.*1466C>T (n.*1466C>T) n.1621C>T c.3485C>T (p.Ala1162Val) c.3443C>T (p.Ala1148Val) c.3428C>T (p.Ala1143Val) c.3416C>T (p.Ala1139Val) c.3389C>T (p.Ala1130Val) c.3371C>T (p.Ala1124Val) n.3684C>T | |
6 | g.75914079A>C | CA450938435 | MYO6 | c.3360A>C (p.Ala1120=) c.3456A>C (p.Ala1152=) c.3387A>C (p.Ala1129=) c.3483A>C (p.Ala1161=) c.*1467A>C (n.*1467A>C) n.1622A>C c.3486A>C (p.Ala1162=) c.3444A>C (p.Ala1148=) c.3429A>C (p.Ala1143=) c.3417A>C (p.Ala1139=) c.3390A>C (p.Ala1130=) c.3372A>C (p.Ala1124=) n.3685A>C | |
6 | g.75914079A>G | CA450938436 | MYO6 | c.3360A>G (p.Ala1120=) c.3456A>G (p.Ala1152=) c.3387A>G (p.Ala1129=) c.3483A>G (p.Ala1161=) c.*1467A>G (n.*1467A>G) n.1622A>G c.3486A>G (p.Ala1162=) c.3444A>G (p.Ala1148=) c.3429A>G (p.Ala1143=) c.3417A>G (p.Ala1139=) c.3390A>G (p.Ala1130=) c.3372A>G (p.Ala1124=) n.3685A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.75914079A>T | CA450938437 | MYO6 | c.3360A>T (p.Ala1120=) c.3456A>T (p.Ala1152=) c.3387A>T (p.Ala1129=) c.3483A>T (p.Ala1161=) c.*1467A>T (n.*1467A>T) n.1622A>T c.3486A>T (p.Ala1162=) c.3444A>T (p.Ala1148=) c.3429A>T (p.Ala1143=) c.3417A>T (p.Ala1139=) c.3390A>T (p.Ala1130=) c.3372A>T (p.Ala1124=) n.3685A>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.75914080G>A | CA3897737 | MYO6 | c.3361G>A (p.Ala1121Thr) c.3457G>A (p.Ala1153Thr) c.3388G>A (p.Ala1130Thr) c.3484G>A (p.Ala1162Thr) c.*1468G>A (n.*1468G>A) n.1623G>A c.3487G>A (p.Ala1163Thr) c.3445G>A (p.Ala1149Thr) c.3430G>A (p.Ala1144Thr) c.3418G>A (p.Ala1140Thr) c.3391G>A (p.Ala1131Thr) c.3373G>A (p.Ala1125Thr) n.3686G>A | dbSNP ExAC gnomAD v2 |
6 | g.75914080G>C | CA364761085 | MYO6 | c.3361G>C (p.Ala1121Pro) c.3457G>C (p.Ala1153Pro) c.3388G>C (p.Ala1130Pro) c.3484G>C (p.Ala1162Pro) c.*1468G>C (n.*1468G>C) n.1623G>C c.3487G>C (p.Ala1163Pro) c.3445G>C (p.Ala1149Pro) c.3430G>C (p.Ala1144Pro) c.3418G>C (p.Ala1140Pro) c.3391G>C (p.Ala1131Pro) c.3373G>C (p.Ala1125Pro) n.3686G>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.75914080G>T | CA364761096 | MYO6 | c.3361G>T (p.Ala1121Ser) c.3457G>T (p.Ala1153Ser) c.3388G>T (p.Ala1130Ser) c.3484G>T (p.Ala1162Ser) c.*1468G>T (n.*1468G>T) n.1623G>T c.3487G>T (p.Ala1163Ser) c.3445G>T (p.Ala1149Ser) c.3430G>T (p.Ala1144Ser) c.3418G>T (p.Ala1140Ser) c.3391G>T (p.Ala1131Ser) c.3373G>T (p.Ala1125Ser) n.3686G>T | |
6 | g.75914081C>A | CA364761100 | MYO6 | c.3362C>A (p.Ala1121Asp) c.3458C>A (p.Ala1153Asp) c.3389C>A (p.Ala1130Asp) c.3485C>A (p.Ala1162Asp) c.*1469C>A (n.*1469C>A) n.1624C>A c.3488C>A (p.Ala1163Asp) c.3446C>A (p.Ala1149Asp) c.3431C>A (p.Ala1144Asp) c.3419C>A (p.Ala1140Asp) c.3392C>A (p.Ala1131Asp) c.3374C>A (p.Ala1125Asp) n.3687C>A | |
6 | g.75914081C>G | CA364761102 | MYO6 | c.3362C>G (p.Ala1121Gly) c.3458C>G (p.Ala1153Gly) c.3389C>G (p.Ala1130Gly) c.3485C>G (p.Ala1162Gly) c.*1469C>G (n.*1469C>G) n.1624C>G c.3488C>G (p.Ala1163Gly) c.3446C>G (p.Ala1149Gly) c.3431C>G (p.Ala1144Gly) c.3419C>G (p.Ala1140Gly) c.3392C>G (p.Ala1131Gly) c.3374C>G (p.Ala1125Gly) n.3687C>G | |
6 | g.75914081C>T | CA364761106 | MYO6 | c.3362C>T (p.Ala1121Val) c.3458C>T (p.Ala1153Val) c.3389C>T (p.Ala1130Val) c.3485C>T (p.Ala1162Val) c.*1469C>T (n.*1469C>T) n.1624C>T c.3488C>T (p.Ala1163Val) c.3446C>T (p.Ala1149Val) c.3431C>T (p.Ala1144Val) c.3419C>T (p.Ala1140Val) c.3392C>T (p.Ala1131Val) c.3374C>T (p.Ala1125Val) n.3687C>T | |
6 | g.75914082T>A | CA450938443 | MYO6 | c.3363T>A (p.Ala1121=) c.3459T>A (p.Ala1153=) c.3390T>A (p.Ala1130=) c.3486T>A (p.Ala1162=) c.*1470T>A (n.*1470T>A) n.1625T>A c.3489T>A (p.Ala1163=) c.3447T>A (p.Ala1149=) c.3432T>A (p.Ala1144=) c.3420T>A (p.Ala1140=) c.3393T>A (p.Ala1131=) c.3375T>A (p.Ala1125=) n.3688T>A | |
6 | g.75914082T>C | CA450938445 | MYO6 | c.3363T>C (p.Ala1121=) c.3459T>C (p.Ala1153=) c.3390T>C (p.Ala1130=) c.3486T>C (p.Ala1162=) c.*1470T>C (n.*1470T>C) n.1625T>C c.3489T>C (p.Ala1163=) c.3447T>C (p.Ala1149=) c.3432T>C (p.Ala1144=) c.3420T>C (p.Ala1140=) c.3393T>C (p.Ala1131=) c.3375T>C (p.Ala1125=) n.3688T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.75914082T>G | CA450938446 | MYO6 | c.3363T>G (p.Ala1121=) c.3459T>G (p.Ala1153=) c.3390T>G (p.Ala1130=) c.3486T>G (p.Ala1162=) c.*1470T>G (n.*1470T>G) n.1625T>G c.3489T>G (p.Ala1163=) c.3447T>G (p.Ala1149=) c.3432T>G (p.Ala1144=) c.3420T>G (p.Ala1140=) c.3393T>G (p.Ala1131=) c.3375T>G (p.Ala1125=) n.3688T>G | |
6 | g.75914083C>A | CA364761109 | MYO6 | c.3364C>A (p.Gln1122Lys) c.3460C>A (p.Gln1154Lys) c.3391C>A (p.Gln1131Lys) c.3487C>A (p.Gln1163Lys) c.*1471C>A (n.*1471C>A) n.1626C>A c.3490C>A (p.Gln1164Lys) c.3448C>A (p.Gln1150Lys) c.3433C>A (p.Gln1145Lys) c.3421C>A (p.Gln1141Lys) c.3394C>A (p.Gln1132Lys) c.3376C>A (p.Gln1126Lys) n.3689C>A | gnomAD v4 |
6 | g.75914083C>G | CA364761112 | MYO6 | c.3364C>G (p.Gln1122Glu) c.3460C>G (p.Gln1154Glu) c.3391C>G (p.Gln1131Glu) c.3487C>G (p.Gln1163Glu) c.*1471C>G (n.*1471C>G) n.1626C>G c.3490C>G (p.Gln1164Glu) c.3448C>G (p.Gln1150Glu) c.3433C>G (p.Gln1145Glu) c.3421C>G (p.Gln1141Glu) c.3394C>G (p.Gln1132Glu) c.3376C>G (p.Gln1126Glu) n.3689C>G | |
6 | g.75914083C>T | CA3897738 | MYO6 | c.3364C>T (p.Gln1122Ter) c.3460C>T (p.Gln1154Ter) c.3391C>T (p.Gln1131Ter) c.3487C>T (p.Gln1163Ter) c.*1471C>T (n.*1471C>T) n.1626C>T c.3490C>T (p.Gln1164Ter) c.3448C>T (p.Gln1150Ter) c.3433C>T (p.Gln1145Ter) c.3421C>T (p.Gln1141Ter) c.3394C>T (p.Gln1132Ter) c.3376C>T (p.Gln1126Ter) n.3689C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.75914084A>C | CA364761133 | MYO6 | c.3365A>C (p.Gln1122Pro) c.3461A>C (p.Gln1154Pro) c.3392A>C (p.Gln1131Pro) c.3488A>C (p.Gln1163Pro) c.*1472A>C (n.*1472A>C) n.1627A>C c.3491A>C (p.Gln1164Pro) c.3449A>C (p.Gln1150Pro) c.3434A>C (p.Gln1145Pro) c.3422A>C (p.Gln1141Pro) c.3395A>C (p.Gln1132Pro) c.3377A>C (p.Gln1126Pro) n.3690A>C | |
6 | g.75914084A>G | CA364761139 | MYO6 | c.3365A>G (p.Gln1122Arg) c.3461A>G (p.Gln1154Arg) c.3392A>G (p.Gln1131Arg) c.3488A>G (p.Gln1163Arg) c.*1472A>G (n.*1472A>G) n.1627A>G c.3491A>G (p.Gln1164Arg) c.3449A>G (p.Gln1150Arg) c.3434A>G (p.Gln1145Arg) c.3422A>G (p.Gln1141Arg) c.3395A>G (p.Gln1132Arg) c.3377A>G (p.Gln1126Arg) n.3690A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.75914084A>T | CA364761136 | MYO6 | c.3365A>T (p.Gln1122Leu) c.3461A>T (p.Gln1154Leu) c.3392A>T (p.Gln1131Leu) c.3488A>T (p.Gln1163Leu) c.*1472A>T (n.*1472A>T) n.1627A>T c.3491A>T (p.Gln1164Leu) c.3449A>T (p.Gln1150Leu) c.3434A>T (p.Gln1145Leu) c.3422A>T (p.Gln1141Leu) c.3395A>T (p.Gln1132Leu) c.3377A>T (p.Gln1126Leu) n.3690A>T | |
6 | g.75914085G>A | CA450938448 | MYO6 | c.3366G>A (p.Gln1122=) c.3462G>A (p.Gln1154=) c.3393G>A (p.Gln1131=) c.3489G>A (p.Gln1163=) c.*1473G>A (n.*1473G>A) n.1628G>A c.3492G>A (p.Gln1164=) c.3450G>A (p.Gln1150=) c.3435G>A (p.Gln1145=) c.3423G>A (p.Gln1141=) c.3396G>A (p.Gln1132=) c.3378G>A (p.Gln1126=) n.3691G>A | |
6 | g.75914085G>C | CA364761141 | MYO6 | c.3366G>C (p.Gln1122His) c.3462G>C (p.Gln1154His) c.3393G>C (p.Gln1131His) c.3489G>C (p.Gln1163His) c.*1473G>C (n.*1473G>C) n.1628G>C c.3492G>C (p.Gln1164His) c.3450G>C (p.Gln1150His) c.3435G>C (p.Gln1145His) c.3423G>C (p.Gln1141His) c.3396G>C (p.Gln1132His) c.3378G>C (p.Gln1126His) n.3691G>C | |
6 | g.75914085G>T | CA364761143 | MYO6 | c.3366G>T (p.Gln1122His) c.3462G>T (p.Gln1154His) c.3393G>T (p.Gln1131His) c.3489G>T (p.Gln1163His) c.*1473G>T (n.*1473G>T) n.1628G>T c.3492G>T (p.Gln1164His) c.3450G>T (p.Gln1150His) c.3435G>T (p.Gln1145His) c.3423G>T (p.Gln1141His) c.3396G>T (p.Gln1132His) c.3378G>T (p.Gln1126His) n.3691G>T | |
6 | g.75914086A>C | CA364761145 | MYO6 | c.3367A>C (p.Ile1123Leu) c.3463A>C (p.Ile1155Leu) c.3394A>C (p.Ile1132Leu) c.3490A>C (p.Ile1164Leu) c.*1474A>C (n.*1474A>C) n.1629A>C c.3493A>C (p.Ile1165Leu) c.3451A>C (p.Ile1151Leu) c.3436A>C (p.Ile1146Leu) c.3424A>C (p.Ile1142Leu) c.3397A>C (p.Ile1133Leu) c.3379A>C (p.Ile1127Leu) n.3692A>C | |
6 | g.75914086A>G | CA364761146 | MYO6 | c.3367A>G (p.Ile1123Val) c.3463A>G (p.Ile1155Val) c.3394A>G (p.Ile1132Val) c.3490A>G (p.Ile1164Val) c.*1474A>G (n.*1474A>G) n.1629A>G c.3493A>G (p.Ile1165Val) c.3451A>G (p.Ile1151Val) c.3436A>G (p.Ile1146Val) c.3424A>G (p.Ile1142Val) c.3397A>G (p.Ile1133Val) c.3379A>G (p.Ile1127Val) n.3692A>G | |
6 | g.75914086A>T | CA364761148 | MYO6 | c.3367A>T (p.Ile1123Phe) c.3463A>T (p.Ile1155Phe) c.3394A>T (p.Ile1132Phe) c.3490A>T (p.Ile1164Phe) c.*1474A>T (n.*1474A>T) n.1629A>T c.3493A>T (p.Ile1165Phe) c.3451A>T (p.Ile1151Phe) c.3436A>T (p.Ile1146Phe) c.3424A>T (p.Ile1142Phe) c.3397A>T (p.Ile1133Phe) c.3379A>T (p.Ile1127Phe) n.3692A>T | |
6 | g.75914087T>A | CA364761151 | MYO6 | c.3368T>A (p.Ile1123Asn) c.3464T>A (p.Ile1155Asn) c.3395T>A (p.Ile1132Asn) c.3491T>A (p.Ile1164Asn) c.*1475T>A (n.*1475T>A) n.1630T>A c.3494T>A (p.Ile1165Asn) c.3452T>A (p.Ile1151Asn) c.3437T>A (p.Ile1146Asn) c.3425T>A (p.Ile1142Asn) c.3398T>A (p.Ile1133Asn) c.3380T>A (p.Ile1127Asn) n.3693T>A | |
6 | g.75914087T>C | CA364761152 | MYO6 | c.3368T>C (p.Ile1123Thr) c.3464T>C (p.Ile1155Thr) c.3395T>C (p.Ile1132Thr) c.3491T>C (p.Ile1164Thr) c.*1475T>C (n.*1475T>C) n.1630T>C c.3494T>C (p.Ile1165Thr) c.3452T>C (p.Ile1151Thr) c.3437T>C (p.Ile1146Thr) c.3425T>C (p.Ile1142Thr) c.3398T>C (p.Ile1133Thr) c.3380T>C (p.Ile1127Thr) n.3693T>C | |
6 | g.75914087T>G | CA364761155 | MYO6 | c.3368T>G (p.Ile1123Ser) c.3464T>G (p.Ile1155Ser) c.3395T>G (p.Ile1132Ser) c.3491T>G (p.Ile1164Ser) c.*1475T>G (n.*1475T>G) n.1630T>G c.3494T>G (p.Ile1165Ser) c.3452T>G (p.Ile1151Ser) c.3437T>G (p.Ile1146Ser) c.3425T>G (p.Ile1142Ser) c.3398T>G (p.Ile1133Ser) c.3380T>G (p.Ile1127Ser) n.3693T>G | gnomAD v4 |
6 | g.75914088dup | CA2497157112 | MYO6 | c.3369dup (p.Pro1124SerfsTer8) c.3465dup (p.Pro1156SerfsTer8) c.3396dup (p.Pro1133SerfsTer8) c.3492dup (p.Pro1165SerfsTer8) c.*1476dup (n.*1476dup) n.1631dup c.3495dup (p.Pro1166SerfsTer8) c.3453dup (p.Pro1152SerfsTer8) c.3438dup (p.Pro1147SerfsTer8) c.3426dup (p.Pro1143SerfsTer8) c.3399dup (p.Pro1134SerfsTer8) c.3381dup (p.Pro1128SerfsTer8) n.3694dup | dbSNP |
6 | g.75914088T>A | CA450938454 | MYO6 | c.3369T>A (p.Ile1123=) c.3465T>A (p.Ile1155=) c.3396T>A (p.Ile1132=) c.3492T>A (p.Ile1164=) c.*1476T>A (n.*1476T>A) n.1631T>A c.3495T>A (p.Ile1165=) c.3453T>A (p.Ile1151=) c.3438T>A (p.Ile1146=) c.3426T>A (p.Ile1142=) c.3399T>A (p.Ile1133=) c.3381T>A (p.Ile1127=) n.3694T>A | |
6 | g.75914088T>C | CA450938456 | MYO6 | c.3369T>C (p.Ile1123=) c.3465T>C (p.Ile1155=) c.3396T>C (p.Ile1132=) c.3492T>C (p.Ile1164=) c.*1476T>C (n.*1476T>C) n.1631T>C c.3495T>C (p.Ile1165=) c.3453T>C (p.Ile1151=) c.3438T>C (p.Ile1146=) c.3426T>C (p.Ile1142=) c.3399T>C (p.Ile1133=) c.3381T>C (p.Ile1127=) n.3694T>C | |
6 | g.75914088T>G | CA364761157 | MYO6 | c.3369T>G (p.Ile1123Met) c.3465T>G (p.Ile1155Met) c.3396T>G (p.Ile1132Met) c.3492T>G (p.Ile1164Met) c.*1476T>G (n.*1476T>G) n.1631T>G c.3495T>G (p.Ile1165Met) c.3453T>G (p.Ile1151Met) c.3438T>G (p.Ile1146Met) c.3426T>G (p.Ile1142Met) c.3399T>G (p.Ile1133Met) c.3381T>G (p.Ile1127Met) n.3694T>G | |
6 | g.75914089C>A | CA364761160 | MYO6 | c.3370C>A (p.Pro1124Thr) c.3466C>A (p.Pro1156Thr) c.3397C>A (p.Pro1133Thr) c.3493C>A (p.Pro1165Thr) c.*1477C>A (n.*1477C>A) n.1632C>A c.3496C>A (p.Pro1166Thr) c.3454C>A (p.Pro1152Thr) c.3439C>A (p.Pro1147Thr) c.3427C>A (p.Pro1143Thr) c.3400C>A (p.Pro1134Thr) c.3382C>A (p.Pro1128Thr) n.3695C>A | |
6 | g.75914089C>G | CA364761163 | MYO6 | c.3370C>G (p.Pro1124Ala) c.3466C>G (p.Pro1156Ala) c.3397C>G (p.Pro1133Ala) c.3493C>G (p.Pro1165Ala) c.*1477C>G (n.*1477C>G) n.1632C>G c.3496C>G (p.Pro1166Ala) c.3454C>G (p.Pro1152Ala) c.3439C>G (p.Pro1147Ala) c.3427C>G (p.Pro1143Ala) c.3400C>G (p.Pro1134Ala) c.3382C>G (p.Pro1128Ala) n.3695C>G | |
6 | g.75914089C>T | CA3897739 | MYO6 | c.3370C>T (p.Pro1124Ser) c.3466C>T (p.Pro1156Ser) c.3397C>T (p.Pro1133Ser) c.3493C>T (p.Pro1165Ser) c.*1477C>T (n.*1477C>T) n.1632C>T c.3496C>T (p.Pro1166Ser) c.3454C>T (p.Pro1152Ser) c.3439C>T (p.Pro1147Ser) c.3427C>T (p.Pro1143Ser) c.3400C>T (p.Pro1134Ser) c.3382C>T (p.Pro1128Ser) n.3695C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.75914090C>A | CA364761174 | MYO6 | c.3371C>A (p.Pro1124His) c.3467C>A (p.Pro1156His) c.3398C>A (p.Pro1133His) c.3494C>A (p.Pro1165His) c.*1478C>A (n.*1478C>A) n.1633C>A c.3497C>A (p.Pro1166His) c.3455C>A (p.Pro1152His) c.3440C>A (p.Pro1147His) c.3428C>A (p.Pro1143His) c.3401C>A (p.Pro1134His) c.3383C>A (p.Pro1128His) n.3696C>A | |
6 | g.75914090C>G | CA364761172 | MYO6 | c.3371C>G (p.Pro1124Arg) c.3467C>G (p.Pro1156Arg) c.3398C>G (p.Pro1133Arg) c.3494C>G (p.Pro1165Arg) c.*1478C>G (n.*1478C>G) n.1633C>G c.3497C>G (p.Pro1166Arg) c.3455C>G (p.Pro1152Arg) c.3440C>G (p.Pro1147Arg) c.3428C>G (p.Pro1143Arg) c.3401C>G (p.Pro1134Arg) c.3383C>G (p.Pro1128Arg) n.3696C>G | |
6 | g.75914090C>T | CA364761173 | MYO6 | c.3371C>T (p.Pro1124Leu) c.3467C>T (p.Pro1156Leu) c.3398C>T (p.Pro1133Leu) c.3494C>T (p.Pro1165Leu) c.*1478C>T (n.*1478C>T) n.1633C>T c.3497C>T (p.Pro1166Leu) c.3455C>T (p.Pro1152Leu) c.3440C>T (p.Pro1147Leu) c.3428C>T (p.Pro1143Leu) c.3401C>T (p.Pro1134Leu) c.3383C>T (p.Pro1128Leu) n.3696C>T | |
6 | g.75914091T>A | CA450938460 | MYO6 | c.3372T>A (p.Pro1124=) c.3468T>A (p.Pro1156=) c.3399T>A (p.Pro1133=) c.3495T>A (p.Pro1165=) c.*1479T>A (n.*1479T>A) n.1634T>A c.3498T>A (p.Pro1166=) c.3456T>A (p.Pro1152=) c.3441T>A (p.Pro1147=) c.3429T>A (p.Pro1143=) c.3402T>A (p.Pro1134=) c.3384T>A (p.Pro1128=) n.3697T>A | |
6 | g.75914091T>C | CA450938461 | MYO6 | c.3372T>C (p.Pro1124=) c.3468T>C (p.Pro1156=) c.3399T>C (p.Pro1133=) c.3495T>C (p.Pro1165=) c.*1479T>C (n.*1479T>C) n.1634T>C c.3498T>C (p.Pro1166=) c.3456T>C (p.Pro1152=) c.3441T>C (p.Pro1147=) c.3429T>C (p.Pro1143=) c.3402T>C (p.Pro1134=) c.3384T>C (p.Pro1128=) n.3697T>C | |
6 | g.75914091T>G | CA450938459 | MYO6 | c.3372T>G (p.Pro1124=) c.3468T>G (p.Pro1156=) c.3399T>G (p.Pro1133=) c.3495T>G (p.Pro1165=) c.*1479T>G (n.*1479T>G) n.1634T>G c.3498T>G (p.Pro1166=) c.3456T>G (p.Pro1152=) c.3441T>G (p.Pro1147=) c.3429T>G (p.Pro1143=) c.3402T>G (p.Pro1134=) c.3384T>G (p.Pro1128=) n.3697T>G | |
6 | g.75914092G>A | CA364761178 | MYO6 | c.3373G>A (p.Ala1125Thr) c.3469G>A (p.Ala1157Thr) c.3400G>A (p.Ala1134Thr) c.3496G>A (p.Ala1166Thr) c.*1480G>A (n.*1480G>A) n.1635G>A c.3499G>A (p.Ala1167Thr) c.3457G>A (p.Ala1153Thr) c.3442G>A (p.Ala1148Thr) c.3430G>A (p.Ala1144Thr) c.3403G>A (p.Ala1135Thr) c.3385G>A (p.Ala1129Thr) n.3698G>A | |
6 | g.75914092G>C | CA364761180 | MYO6 | c.3373G>C (p.Ala1125Pro) c.3469G>C (p.Ala1157Pro) c.3400G>C (p.Ala1134Pro) c.3496G>C (p.Ala1166Pro) c.*1480G>C (n.*1480G>C) n.1635G>C c.3499G>C (p.Ala1167Pro) c.3457G>C (p.Ala1153Pro) c.3442G>C (p.Ala1148Pro) c.3430G>C (p.Ala1144Pro) c.3403G>C (p.Ala1135Pro) c.3385G>C (p.Ala1129Pro) n.3698G>C | |
6 | g.75914092G>T | CA364761182 | MYO6 | c.3373G>T (p.Ala1125Ser) c.3469G>T (p.Ala1157Ser) c.3400G>T (p.Ala1134Ser) c.3496G>T (p.Ala1166Ser) c.*1480G>T (n.*1480G>T) n.1635G>T c.3499G>T (p.Ala1167Ser) c.3457G>T (p.Ala1153Ser) c.3442G>T (p.Ala1148Ser) c.3430G>T (p.Ala1144Ser) c.3403G>T (p.Ala1135Ser) c.3385G>T (p.Ala1129Ser) n.3698G>T | |
6 | g.75914093C>A | CA364761183 | MYO6 | c.3374C>A (p.Ala1125Asp) c.3470C>A (p.Ala1157Asp) c.3401C>A (p.Ala1134Asp) c.3497C>A (p.Ala1166Asp) c.*1481C>A (n.*1481C>A) n.1636C>A c.3500C>A (p.Ala1167Asp) c.3458C>A (p.Ala1153Asp) c.3443C>A (p.Ala1148Asp) c.3431C>A (p.Ala1144Asp) c.3404C>A (p.Ala1135Asp) c.3386C>A (p.Ala1129Asp) n.3699C>A | |
6 | g.75914093C>G | CA364761184 | MYO6 | c.3374C>G (p.Ala1125Gly) c.3470C>G (p.Ala1157Gly) c.3401C>G (p.Ala1134Gly) c.3497C>G (p.Ala1166Gly) c.*1481C>G (n.*1481C>G) n.1636C>G c.3500C>G (p.Ala1167Gly) c.3458C>G (p.Ala1153Gly) c.3443C>G (p.Ala1148Gly) c.3431C>G (p.Ala1144Gly) c.3404C>G (p.Ala1135Gly) c.3386C>G (p.Ala1129Gly) n.3699C>G | |
6 | g.75914093C>T | CA364761190 | MYO6 | c.3374C>T (p.Ala1125Val) c.3470C>T (p.Ala1157Val) c.3401C>T (p.Ala1134Val) c.3497C>T (p.Ala1166Val) c.*1481C>T (n.*1481C>T) n.1636C>T c.3500C>T (p.Ala1167Val) c.3458C>T (p.Ala1153Val) c.3443C>T (p.Ala1148Val) c.3431C>T (p.Ala1144Val) c.3404C>T (p.Ala1135Val) c.3386C>T (p.Ala1129Val) n.3699C>T | |
6 | g.75914094C>A | CA450938470 | MYO6 | c.3375C>A (p.Ala1125=) c.3471C>A (p.Ala1157=) c.3402C>A (p.Ala1134=) c.3498C>A (p.Ala1166=) c.*1482C>A (n.*1482C>A) n.1637C>A c.3501C>A (p.Ala1167=) c.3459C>A (p.Ala1153=) c.3444C>A (p.Ala1148=) c.3432C>A (p.Ala1144=) c.3405C>A (p.Ala1135=) c.3387C>A (p.Ala1129=) n.3700C>A | gnomAD v4 |
6 | g.75914094C>G | CA450938466 | MYO6 | c.3375C>G (p.Ala1125=) c.3471C>G (p.Ala1157=) c.3402C>G (p.Ala1134=) c.3498C>G (p.Ala1166=) c.*1482C>G (n.*1482C>G) n.1637C>G c.3501C>G (p.Ala1167=) c.3459C>G (p.Ala1153=) c.3444C>G (p.Ala1148=) c.3432C>G (p.Ala1144=) c.3405C>G (p.Ala1135=) c.3387C>G (p.Ala1129=) n.3700C>G | |
6 | g.75914094C>T | CA450938468 | MYO6 | c.3375C>T (p.Ala1125=) c.3471C>T (p.Ala1157=) c.3402C>T (p.Ala1134=) c.3498C>T (p.Ala1166=) c.*1482C>T (n.*1482C>T) n.1637C>T c.3501C>T (p.Ala1167=) c.3459C>T (p.Ala1153=) c.3444C>T (p.Ala1148=) c.3432C>T (p.Ala1144=) c.3405C>T (p.Ala1135=) c.3387C>T (p.Ala1129=) n.3700C>T | |
6 | g.75914095A>C | CA450938471 | MYO6 | c.3376A>C (p.Arg1126=) c.3472A>C (p.Arg1158=) c.3403A>C (p.Arg1135=) c.3499A>C (p.Arg1167=) c.*1483A>C (n.*1483A>C) n.1638A>C c.3502A>C (p.Arg1168=) c.3460A>C (p.Arg1154=) c.3445A>C (p.Arg1149=) c.3433A>C (p.Arg1145=) c.3406A>C (p.Arg1136=) c.3388A>C (p.Arg1130=) n.3701A>C | |
6 | g.75914095A>G | CA141060128 | MYO6 | c.3376A>G (p.Arg1126Gly) c.3472A>G (p.Arg1158Gly) c.3403A>G (p.Arg1135Gly) c.3499A>G (p.Arg1167Gly) c.*1483A>G (n.*1483A>G) n.1638A>G c.3502A>G (p.Arg1168Gly) c.3460A>G (p.Arg1154Gly) c.3445A>G (p.Arg1149Gly) c.3433A>G (p.Arg1145Gly) c.3406A>G (p.Arg1136Gly) c.3388A>G (p.Arg1130Gly) n.3701A>G | dbSNP |
6 | g.75914095A>T | CA364761199 | MYO6 | c.3376A>T (p.Arg1126Trp) c.3472A>T (p.Arg1158Trp) c.3403A>T (p.Arg1135Trp) c.3499A>T (p.Arg1167Trp) c.*1483A>T (n.*1483A>T) n.1638A>T c.3502A>T (p.Arg1168Trp) c.3460A>T (p.Arg1154Trp) c.3445A>T (p.Arg1149Trp) c.3433A>T (p.Arg1145Trp) c.3406A>T (p.Arg1136Trp) c.3388A>T (p.Arg1130Trp) n.3701A>T | |
6 | g.75914096G>A | CA364761201 | MYO6 | c.3377G>A (p.Arg1126Lys) c.3473G>A (p.Arg1158Lys) c.3404G>A (p.Arg1135Lys) c.3500G>A (p.Arg1167Lys) c.*1484G>A (n.*1484G>A) n.1639G>A c.3503G>A (p.Arg1168Lys) c.3461G>A (p.Arg1154Lys) c.3446G>A (p.Arg1149Lys) c.3434G>A (p.Arg1145Lys) c.3407G>A (p.Arg1136Lys) c.3389G>A (p.Arg1130Lys) n.3702G>A | |
6 | g.75914096G>C | CA3897740 | MYO6 | c.3377G>C (p.Arg1126Thr) c.3473G>C (p.Arg1158Thr) c.3404G>C (p.Arg1135Thr) c.3500G>C (p.Arg1167Thr) c.*1484G>C (n.*1484G>C) n.1639G>C c.3503G>C (p.Arg1168Thr) c.3461G>C (p.Arg1154Thr) c.3446G>C (p.Arg1149Thr) c.3434G>C (p.Arg1145Thr) c.3407G>C (p.Arg1136Thr) c.3389G>C (p.Arg1130Thr) n.3702G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.75914096G>T | CA364761205 | MYO6 | c.3377G>T (p.Arg1126Met) c.3473G>T (p.Arg1158Met) c.3404G>T (p.Arg1135Met) c.3500G>T (p.Arg1167Met) c.*1484G>T (n.*1484G>T) n.1639G>T c.3503G>T (p.Arg1168Met) c.3461G>T (p.Arg1154Met) c.3446G>T (p.Arg1149Met) c.3434G>T (p.Arg1145Met) c.3407G>T (p.Arg1136Met) c.3389G>T (p.Arg1130Met) n.3702G>T | |
6 | g.75914097G>A | CA450938473 | MYO6 | c.3378G>A (p.Arg1126=) c.3474G>A (p.Arg1158=) c.3405G>A (p.Arg1135=) c.3501G>A (p.Arg1167=) c.*1485G>A (n.*1485G>A) n.1640G>A c.3504G>A (p.Arg1168=) c.3462G>A (p.Arg1154=) c.3447G>A (p.Arg1149=) c.3435G>A (p.Arg1145=) c.3408G>A (p.Arg1136=) c.3390G>A (p.Arg1130=) n.3703G>A | |
6 | g.75914097G>C | CA364761207 | MYO6 | c.3378G>C (p.Arg1126Ser) c.3474G>C (p.Arg1158Ser) c.3405G>C (p.Arg1135Ser) c.3501G>C (p.Arg1167Ser) c.*1485G>C (n.*1485G>C) n.1640G>C c.3504G>C (p.Arg1168Ser) c.3462G>C (p.Arg1154Ser) c.3447G>C (p.Arg1149Ser) c.3435G>C (p.Arg1145Ser) c.3408G>C (p.Arg1136Ser) c.3390G>C (p.Arg1130Ser) n.3703G>C | |
6 | g.75914097G>T | CA364761208 | MYO6 | c.3378G>T (p.Arg1126Ser) c.3474G>T (p.Arg1158Ser) c.3405G>T (p.Arg1135Ser) c.3501G>T (p.Arg1167Ser) c.*1485G>T (n.*1485G>T) n.1640G>T c.3504G>T (p.Arg1168Ser) c.3462G>T (p.Arg1154Ser) c.3447G>T (p.Arg1149Ser) c.3435G>T (p.Arg1145Ser) c.3408G>T (p.Arg1136Ser) c.3390G>T (p.Arg1130Ser) n.3703G>T | |
6 | g.75914098del | CA828153055 | MYO6 | c.3379del (p.Gln1127SerfsTer6) c.3475del (p.Gln1159SerfsTer6) c.3406del (p.Gln1136SerfsTer6) c.3502del (p.Gln1168SerfsTer6) c.*1486del (n.*1486del) n.1641del c.3505del (p.Gln1169SerfsTer6) c.3463del (p.Gln1155SerfsTer6) c.3448del (p.Gln1150SerfsTer6) c.3436del (p.Gln1146SerfsTer6) c.3409del (p.Gln1137SerfsTer6) c.3391del (p.Gln1131SerfsTer6) n.3704del | dbSNP |
6 | g.75914098C>A | CA364761216 | MYO6 | c.3379C>A (p.Gln1127Lys) c.3475C>A (p.Gln1159Lys) c.3406C>A (p.Gln1136Lys) c.3502C>A (p.Gln1168Lys) c.*1486C>A (n.*1486C>A) n.1641C>A c.3505C>A (p.Gln1169Lys) c.3463C>A (p.Gln1155Lys) c.3448C>A (p.Gln1150Lys) c.3436C>A (p.Gln1146Lys) c.3409C>A (p.Gln1137Lys) c.3391C>A (p.Gln1131Lys) n.3704C>A | |
6 | g.75914098C>G | CA364761214 | MYO6 | c.3379C>G (p.Gln1127Glu) c.3475C>G (p.Gln1159Glu) c.3406C>G (p.Gln1136Glu) c.3502C>G (p.Gln1168Glu) c.*1486C>G (n.*1486C>G) n.1641C>G c.3505C>G (p.Gln1169Glu) c.3463C>G (p.Gln1155Glu) c.3448C>G (p.Gln1150Glu) c.3436C>G (p.Gln1146Glu) c.3409C>G (p.Gln1137Glu) c.3391C>G (p.Gln1131Glu) n.3704C>G | gnomAD v4 |
6 | g.75914098C>T | CA364761211 | MYO6 | c.3379C>T (p.Gln1127Ter) c.3475C>T (p.Gln1159Ter) c.3406C>T (p.Gln1136Ter) c.3502C>T (p.Gln1168Ter) c.*1486C>T (n.*1486C>T) n.1641C>T c.3505C>T (p.Gln1169Ter) c.3463C>T (p.Gln1155Ter) c.3448C>T (p.Gln1150Ter) c.3436C>T (p.Gln1146Ter) c.3409C>T (p.Gln1137Ter) c.3391C>T (p.Gln1131Ter) n.3704C>T | |
6 | g.75914099A>C | CA364761217 | MYO6 | c.3380A>C (p.Gln1127Pro) c.3476A>C (p.Gln1159Pro) c.3407A>C (p.Gln1136Pro) c.3503A>C (p.Gln1168Pro) c.*1487A>C (n.*1487A>C) n.1642A>C c.3506A>C (p.Gln1169Pro) c.3464A>C (p.Gln1155Pro) c.3449A>C (p.Gln1150Pro) c.3437A>C (p.Gln1146Pro) c.3410A>C (p.Gln1137Pro) c.3392A>C (p.Gln1131Pro) n.3705A>C | |
6 | g.75914099A>G | CA364761218 | MYO6 | c.3380A>G (p.Gln1127Arg) c.3476A>G (p.Gln1159Arg) c.3407A>G (p.Gln1136Arg) c.3503A>G (p.Gln1168Arg) c.*1487A>G (n.*1487A>G) n.1642A>G c.3506A>G (p.Gln1169Arg) c.3464A>G (p.Gln1155Arg) c.3449A>G (p.Gln1150Arg) c.3437A>G (p.Gln1146Arg) c.3410A>G (p.Gln1137Arg) c.3392A>G (p.Gln1131Arg) n.3705A>G | |
6 | g.75914099A>T | CA364761219 | MYO6 | c.3380A>T (p.Gln1127Leu) c.3476A>T (p.Gln1159Leu) c.3407A>T (p.Gln1136Leu) c.3503A>T (p.Gln1168Leu) c.*1487A>T (n.*1487A>T) n.1642A>T c.3506A>T (p.Gln1169Leu) c.3464A>T (p.Gln1155Leu) c.3449A>T (p.Gln1150Leu) c.3437A>T (p.Gln1146Leu) c.3410A>T (p.Gln1137Leu) c.3392A>T (p.Gln1131Leu) n.3705A>T | |
6 | g.75914100G>A | CA450938477 | MYO6 | c.3381G>A (p.Gln1127=) c.3477G>A (p.Gln1159=) c.3408G>A (p.Gln1136=) c.3504G>A (p.Gln1168=) c.*1488G>A (n.*1488G>A) n.1643G>A c.3507G>A (p.Gln1169=) c.3465G>A (p.Gln1155=) c.3450G>A (p.Gln1150=) c.3438G>A (p.Gln1146=) c.3411G>A (p.Gln1137=) c.3393G>A (p.Gln1131=) n.3706G>A | |
6 | g.75914100G>C | CA364761220 | MYO6 | c.3381G>C (p.Gln1127His) c.3477G>C (p.Gln1159His) c.3408G>C (p.Gln1136His) c.3504G>C (p.Gln1168His) c.*1488G>C (n.*1488G>C) n.1643G>C c.3507G>C (p.Gln1169His) c.3465G>C (p.Gln1155His) c.3450G>C (p.Gln1150His) c.3438G>C (p.Gln1146His) c.3411G>C (p.Gln1137His) c.3393G>C (p.Gln1131His) n.3706G>C | gnomAD v4 |
6 | g.75914100G>T | CA364761221 | MYO6 | c.3381G>T (p.Gln1127His) c.3477G>T (p.Gln1159His) c.3408G>T (p.Gln1136His) c.3504G>T (p.Gln1168His) c.*1488G>T (n.*1488G>T) n.1643G>T c.3507G>T (p.Gln1169His) c.3465G>T (p.Gln1155His) c.3450G>T (p.Gln1150His) c.3438G>T (p.Gln1146His) c.3411G>T (p.Gln1137His) c.3393G>T (p.Gln1131His) n.3706G>T | |
6 | g.75914101C>A | CA450938478 | MYO6 | c.3382C>A (p.Arg1128=) c.3478C>A (p.Arg1160=) c.3409C>A (p.Arg1137=) c.3505C>A (p.Arg1169=) c.*1489C>A (n.*1489C>A) n.1644C>A c.3508C>A (p.Arg1170=) c.3466C>A (p.Arg1156=) c.3451C>A (p.Arg1151=) c.3439C>A (p.Arg1147=) c.3412C>A (p.Arg1138=) c.3394C>A (p.Arg1132=) n.3707C>A | |
6 | g.75914101C>G | CA364761223 | MYO6 | c.3382C>G (p.Arg1128Gly) c.3478C>G (p.Arg1160Gly) c.3409C>G (p.Arg1137Gly) c.3505C>G (p.Arg1169Gly) c.*1489C>G (n.*1489C>G) n.1644C>G c.3508C>G (p.Arg1170Gly) c.3466C>G (p.Arg1156Gly) c.3451C>G (p.Arg1151Gly) c.3439C>G (p.Arg1147Gly) c.3412C>G (p.Arg1138Gly) c.3394C>G (p.Arg1132Gly) n.3707C>G | |
6 | g.75914101C>T | CA3897741 | MYO6 | c.3382C>T (p.Arg1128Trp) c.3478C>T (p.Arg1160Trp) c.3409C>T (p.Arg1137Trp) c.3505C>T (p.Arg1169Trp) c.*1489C>T (n.*1489C>T) n.1644C>T c.3508C>T (p.Arg1170Trp) c.3466C>T (p.Arg1156Trp) c.3451C>T (p.Arg1151Trp) c.3439C>T (p.Arg1147Trp) c.3412C>T (p.Arg1138Trp) c.3394C>T (p.Arg1132Trp) n.3707C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.75914102G>A | CA364761239 | MYO6 | c.3383G>A (p.Arg1128Gln) c.3479G>A (p.Arg1160Gln) c.3410G>A (p.Arg1137Gln) c.3506G>A (p.Arg1169Gln) c.*1490G>A (n.*1490G>A) n.1645G>A c.3509G>A (p.Arg1170Gln) c.3467G>A (p.Arg1156Gln) c.3452G>A (p.Arg1151Gln) c.3440G>A (p.Arg1147Gln) c.3413G>A (p.Arg1138Gln) c.3395G>A (p.Arg1132Gln) n.3708G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
6 | g.75914102G>C | CA364761249 | MYO6 | c.3383G>C (p.Arg1128Pro) c.3479G>C (p.Arg1160Pro) c.3410G>C (p.Arg1137Pro) c.3506G>C (p.Arg1169Pro) c.*1490G>C (n.*1490G>C) n.1645G>C c.3509G>C (p.Arg1170Pro) c.3467G>C (p.Arg1156Pro) c.3452G>C (p.Arg1151Pro) c.3440G>C (p.Arg1147Pro) c.3413G>C (p.Arg1138Pro) c.3395G>C (p.Arg1132Pro) n.3708G>C | |
6 | g.75914102G>T | CA364761250 | MYO6 | c.3383G>T (p.Arg1128Leu) c.3479G>T (p.Arg1160Leu) c.3410G>T (p.Arg1137Leu) c.3506G>T (p.Arg1169Leu) c.*1490G>T (n.*1490G>T) n.1645G>T c.3509G>T (p.Arg1170Leu) c.3467G>T (p.Arg1156Leu) c.3452G>T (p.Arg1151Leu) c.3440G>T (p.Arg1147Leu) c.3413G>T (p.Arg1138Leu) c.3395G>T (p.Arg1132Leu) n.3708G>T | gnomAD v4 |
6 | g.75914103G>A | CA450938482 | MYO6 | c.3384G>A (p.Arg1128=) c.3480G>A (p.Arg1160=) c.3411G>A (p.Arg1137=) c.3507G>A (p.Arg1169=) c.*1491G>A (n.*1491G>A) n.1646G>A c.3510G>A (p.Arg1170=) c.3468G>A (p.Arg1156=) c.3453G>A (p.Arg1151=) c.3441G>A (p.Arg1147=) c.3414G>A (p.Arg1138=) c.3396G>A (p.Arg1132=) n.3709G>A | |
6 | g.75914103G>C | CA450938480 | MYO6 | c.3384G>C (p.Arg1128=) c.3480G>C (p.Arg1160=) c.3411G>C (p.Arg1137=) c.3507G>C (p.Arg1169=) c.*1491G>C (n.*1491G>C) n.1646G>C c.3510G>C (p.Arg1170=) c.3468G>C (p.Arg1156=) c.3453G>C (p.Arg1151=) c.3441G>C (p.Arg1147=) c.3414G>C (p.Arg1138=) c.3396G>C (p.Arg1132=) n.3709G>C | |
6 | g.75914103G>T | CA450938481 | MYO6 | c.3384G>T (p.Arg1128=) c.3480G>T (p.Arg1160=) c.3411G>T (p.Arg1137=) c.3507G>T (p.Arg1169=) c.*1491G>T (n.*1491G>T) n.1646G>T c.3510G>T (p.Arg1170=) c.3468G>T (p.Arg1156=) c.3453G>T (p.Arg1151=) c.3441G>T (p.Arg1147=) c.3414G>T (p.Arg1138=) c.3396G>T (p.Arg1132=) n.3709G>T | |
6 | g.75914104G>A | CA364761253 | MYO6 | c.3385G>A (p.Glu1129Lys) c.3481G>A (p.Glu1161Lys) c.3412G>A (p.Glu1138Lys) c.3508G>A (p.Glu1170Lys) c.*1492G>A (n.*1492G>A) n.1647G>A c.3511G>A (p.Glu1171Lys) c.3469G>A (p.Glu1157Lys) c.3454G>A (p.Glu1152Lys) c.3442G>A (p.Glu1148Lys) c.3415G>A (p.Glu1139Lys) c.3397G>A (p.Glu1133Lys) n.3710G>A | |
6 | g.75914104G>C | CA364761256 | MYO6 | c.3385G>C (p.Glu1129Gln) c.3481G>C (p.Glu1161Gln) c.3412G>C (p.Glu1138Gln) c.3508G>C (p.Glu1170Gln) c.*1492G>C (n.*1492G>C) n.1647G>C c.3511G>C (p.Glu1171Gln) c.3469G>C (p.Glu1157Gln) c.3454G>C (p.Glu1152Gln) c.3442G>C (p.Glu1148Gln) c.3415G>C (p.Glu1139Gln) c.3397G>C (p.Glu1133Gln) n.3710G>C | |
6 | g.75914104G>T | CA364761258 | MYO6 | c.3385G>T (p.Glu1129Ter) c.3481G>T (p.Glu1161Ter) c.3412G>T (p.Glu1138Ter) c.3508G>T (p.Glu1170Ter) c.*1492G>T (n.*1492G>T) n.1647G>T c.3511G>T (p.Glu1171Ter) c.3469G>T (p.Glu1157Ter) c.3454G>T (p.Glu1152Ter) c.3442G>T (p.Glu1148Ter) c.3415G>T (p.Glu1139Ter) c.3397G>T (p.Glu1133Ter) n.3710G>T | |
6 | g.75914105A>C | CA364761270 | MYO6 | c.3386A>C (p.Glu1129Ala) c.3482A>C (p.Glu1161Ala) c.3413A>C (p.Glu1138Ala) c.3509A>C (p.Glu1170Ala) c.*1493A>C (n.*1493A>C) n.1648A>C c.3512A>C (p.Glu1171Ala) c.3470A>C (p.Glu1157Ala) c.3455A>C (p.Glu1152Ala) c.3443A>C (p.Glu1148Ala) c.3416A>C (p.Glu1139Ala) c.3398A>C (p.Glu1133Ala) n.3711A>C | |
6 | g.75914105A>G | CA364761273 | MYO6 | c.3386A>G (p.Glu1129Gly) c.3482A>G (p.Glu1161Gly) c.3413A>G (p.Glu1138Gly) c.3509A>G (p.Glu1170Gly) c.*1493A>G (n.*1493A>G) n.1648A>G c.3512A>G (p.Glu1171Gly) c.3470A>G (p.Glu1157Gly) c.3455A>G (p.Glu1152Gly) c.3443A>G (p.Glu1148Gly) c.3416A>G (p.Glu1139Gly) c.3398A>G (p.Glu1133Gly) n.3711A>G | |
6 | g.75914105A>T | CA364761267 | MYO6 | c.3386A>T (p.Glu1129Val) c.3482A>T (p.Glu1161Val) c.3413A>T (p.Glu1138Val) c.3509A>T (p.Glu1170Val) c.*1493A>T (n.*1493A>T) n.1648A>T c.3512A>T (p.Glu1171Val) c.3470A>T (p.Glu1157Val) c.3455A>T (p.Glu1152Val) c.3443A>T (p.Glu1148Val) c.3416A>T (p.Glu1139Val) c.3398A>T (p.Glu1133Val) n.3711A>T | |
6 | g.75914106G>A | CA3897742 | MYO6 | c.3387G>A (p.Glu1129=) c.3483G>A (p.Glu1161=) c.3414G>A (p.Glu1138=) c.3510G>A (p.Glu1170=) c.*1494G>A (n.*1494G>A) n.1649G>A c.3513G>A (p.Glu1171=) c.3471G>A (p.Glu1157=) c.3456G>A (p.Glu1152=) c.3444G>A (p.Glu1148=) c.3417G>A (p.Glu1139=) c.3399G>A (p.Glu1133=) n.3712G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.75914106G>C | CA364761278 | MYO6 | c.3387G>C (p.Glu1129Asp) c.3483G>C (p.Glu1161Asp) c.3414G>C (p.Glu1138Asp) c.3510G>C (p.Glu1170Asp) c.*1494G>C (n.*1494G>C) n.1649G>C c.3513G>C (p.Glu1171Asp) c.3471G>C (p.Glu1157Asp) c.3456G>C (p.Glu1152Asp) c.3444G>C (p.Glu1148Asp) c.3417G>C (p.Glu1139Asp) c.3399G>C (p.Glu1133Asp) n.3712G>C | |
6 | g.75914106G= | CA2695196650 | MYO6 | c.3387G= (p.Glu1129=) c.3483G= (p.Glu1161=) c.3414G= (p.Glu1138=) c.3510G= (p.Glu1170=) c.*1494G= (n.*1494G=) n.1649G= c.3513G= (p.Glu1171=) c.3471G= (p.Glu1157=) c.3456G= (p.Glu1152=) c.3444G= (p.Glu1148=) c.3417G= (p.Glu1139=) c.3399G= (p.Glu1133=) n.3712G= | |
6 | g.75914106G>T | CA364761280 | MYO6 | c.3387G>T (p.Glu1129Asp) c.3483G>T (p.Glu1161Asp) c.3414G>T (p.Glu1138Asp) c.3510G>T (p.Glu1170Asp) c.*1494G>T (n.*1494G>T) n.1649G>T c.3513G>T (p.Glu1171Asp) c.3471G>T (p.Glu1157Asp) c.3456G>T (p.Glu1152Asp) c.3444G>T (p.Glu1148Asp) c.3417G>T (p.Glu1139Asp) c.3399G>T (p.Glu1133Asp) n.3712G>T | |
6 | g.75914107A>C | CA364761281 | MYO6 | c.3388A>C (p.Ile1130Leu) c.3484A>C (p.Ile1162Leu) c.3415A>C (p.Ile1139Leu) c.3511A>C (p.Ile1171Leu) c.*1495A>C (n.*1495A>C) n.1650A>C c.3514A>C (p.Ile1172Leu) c.3472A>C (p.Ile1158Leu) c.3457A>C (p.Ile1153Leu) c.3445A>C (p.Ile1149Leu) c.3418A>C (p.Ile1140Leu) c.3400A>C (p.Ile1134Leu) n.3713A>C | |
6 | g.75914107A>G | CA364761282 | MYO6 | c.3388A>G (p.Ile1130Val) c.3484A>G (p.Ile1162Val) c.3415A>G (p.Ile1139Val) c.3511A>G (p.Ile1171Val) c.*1495A>G (n.*1495A>G) n.1650A>G c.3514A>G (p.Ile1172Val) c.3472A>G (p.Ile1158Val) c.3457A>G (p.Ile1153Val) c.3445A>G (p.Ile1149Val) c.3418A>G (p.Ile1140Val) c.3400A>G (p.Ile1134Val) n.3713A>G | gnomAD v4 |
6 | g.75914107A>T | CA364761283 | MYO6 | c.3388A>T (p.Ile1130Phe) c.3484A>T (p.Ile1162Phe) c.3415A>T (p.Ile1139Phe) c.3511A>T (p.Ile1171Phe) c.*1495A>T (n.*1495A>T) n.1650A>T c.3514A>T (p.Ile1172Phe) c.3472A>T (p.Ile1158Phe) c.3457A>T (p.Ile1153Phe) c.3445A>T (p.Ile1149Phe) c.3418A>T (p.Ile1140Phe) c.3400A>T (p.Ile1134Phe) n.3713A>T | |
6 | g.75914108T>A | CA364761284 | MYO6 | c.3389T>A (p.Ile1130Asn) c.3485T>A (p.Ile1162Asn) c.3416T>A (p.Ile1139Asn) c.3512T>A (p.Ile1171Asn) c.*1496T>A (n.*1496T>A) n.1651T>A c.3515T>A (p.Ile1172Asn) c.3473T>A (p.Ile1158Asn) c.3458T>A (p.Ile1153Asn) c.3446T>A (p.Ile1149Asn) c.3419T>A (p.Ile1140Asn) c.3401T>A (p.Ile1134Asn) n.3714T>A | |
6 | g.75914108T>C | CA364761285 | MYO6 | c.3389T>C (p.Ile1130Thr) c.3485T>C (p.Ile1162Thr) c.3416T>C (p.Ile1139Thr) c.3512T>C (p.Ile1171Thr) c.*1496T>C (n.*1496T>C) n.1651T>C c.3515T>C (p.Ile1172Thr) c.3473T>C (p.Ile1158Thr) c.3458T>C (p.Ile1153Thr) c.3446T>C (p.Ile1149Thr) c.3419T>C (p.Ile1140Thr) c.3401T>C (p.Ile1134Thr) n.3714T>C | |
6 | g.75914108T>G | CA364761286 | MYO6 | c.3389T>G (p.Ile1130Ser) c.3485T>G (p.Ile1162Ser) c.3416T>G (p.Ile1139Ser) c.3512T>G (p.Ile1171Ser) c.*1496T>G (n.*1496T>G) n.1651T>G c.3515T>G (p.Ile1172Ser) c.3473T>G (p.Ile1158Ser) c.3458T>G (p.Ile1153Ser) c.3446T>G (p.Ile1149Ser) c.3419T>G (p.Ile1140Ser) c.3401T>G (p.Ile1134Ser) n.3714T>G | |
6 | g.75914109T>A | CA450938487 | MYO6 | c.3390T>A (p.Ile1130=) c.3486T>A (p.Ile1162=) c.3417T>A (p.Ile1139=) c.3513T>A (p.Ile1171=) c.*1497T>A (n.*1497T>A) n.1652T>A c.3516T>A (p.Ile1172=) c.3474T>A (p.Ile1158=) c.3459T>A (p.Ile1153=) c.3447T>A (p.Ile1149=) c.3420T>A (p.Ile1140=) c.3402T>A (p.Ile1134=) n.3715T>A | |
6 | g.75914109T>C | CA450938488 | MYO6 | c.3390T>C (p.Ile1130=) c.3486T>C (p.Ile1162=) c.3417T>C (p.Ile1139=) c.3513T>C (p.Ile1171=) c.*1497T>C (n.*1497T>C) n.1652T>C c.3516T>C (p.Ile1172=) c.3474T>C (p.Ile1158=) c.3459T>C (p.Ile1153=) c.3447T>C (p.Ile1149=) c.3420T>C (p.Ile1140=) c.3402T>C (p.Ile1134=) n.3715T>C | |
6 | g.75914109T>G | CA364761287 | MYO6 | c.3390T>G (p.Ile1130Met) c.3486T>G (p.Ile1162Met) c.3417T>G (p.Ile1139Met) c.3513T>G (p.Ile1171Met) c.*1497T>G (n.*1497T>G) n.1652T>G c.3516T>G (p.Ile1172Met) c.3474T>G (p.Ile1158Met) c.3459T>G (p.Ile1153Met) c.3447T>G (p.Ile1149Met) c.3420T>G (p.Ile1140Met) c.3402T>G (p.Ile1134Met) n.3715T>G | gnomAD v4 |
6 | g.75914110G>A | CA364761288 | MYO6 | c.3391G>A (p.Glu1131Lys) c.3487G>A (p.Glu1163Lys) c.3418G>A (p.Glu1140Lys) c.3514G>A (p.Glu1172Lys) c.*1498G>A (n.*1498G>A) n.1653G>A c.3517G>A (p.Glu1173Lys) c.3475G>A (p.Glu1159Lys) c.3460G>A (p.Glu1154Lys) c.3448G>A (p.Glu1150Lys) c.3421G>A (p.Glu1141Lys) c.3403G>A (p.Glu1135Lys) n.3716G>A | COSMIC |
6 | g.75914110G>C | CA364761289 | MYO6 | c.3391G>C (p.Glu1131Gln) c.3487G>C (p.Glu1163Gln) c.3418G>C (p.Glu1140Gln) c.3514G>C (p.Glu1172Gln) c.*1498G>C (n.*1498G>C) n.1653G>C c.3517G>C (p.Glu1173Gln) c.3475G>C (p.Glu1159Gln) c.3460G>C (p.Glu1154Gln) c.3448G>C (p.Glu1150Gln) c.3421G>C (p.Glu1141Gln) c.3403G>C (p.Glu1135Gln) n.3716G>C | |
6 | g.75914110G>T | CA364761291 | MYO6 | c.3391G>T (p.Glu1131Ter) c.3487G>T (p.Glu1163Ter) c.3418G>T (p.Glu1140Ter) c.3514G>T (p.Glu1172Ter) c.*1498G>T (n.*1498G>T) n.1653G>T c.3517G>T (p.Glu1173Ter) c.3475G>T (p.Glu1159Ter) c.3460G>T (p.Glu1154Ter) c.3448G>T (p.Glu1150Ter) c.3421G>T (p.Glu1141Ter) c.3403G>T (p.Glu1135Ter) n.3716G>T | |
6 | g.75914111A>C | CA364761312 | MYO6 | c.3392A>C (p.Glu1131Ala) c.3488A>C (p.Glu1163Ala) c.3419A>C (p.Glu1140Ala) c.3515A>C (p.Glu1172Ala) c.*1499A>C (n.*1499A>C) n.1654A>C c.3518A>C (p.Glu1173Ala) c.3476A>C (p.Glu1159Ala) c.3461A>C (p.Glu1154Ala) c.3449A>C (p.Glu1150Ala) c.3422A>C (p.Glu1141Ala) c.3404A>C (p.Glu1135Ala) n.3717A>C | |
6 | g.75914111A>G | CA364761304 | MYO6 | c.3392A>G (p.Glu1131Gly) c.3488A>G (p.Glu1163Gly) c.3419A>G (p.Glu1140Gly) c.3515A>G (p.Glu1172Gly) c.*1499A>G (n.*1499A>G) n.1654A>G c.3518A>G (p.Glu1173Gly) c.3476A>G (p.Glu1159Gly) c.3461A>G (p.Glu1154Gly) c.3449A>G (p.Glu1150Gly) c.3422A>G (p.Glu1141Gly) c.3404A>G (p.Glu1135Gly) n.3717A>G | |
6 | g.75914111A>T | CA364761292 | MYO6 | c.3392A>T (p.Glu1131Val) c.3488A>T (p.Glu1163Val) c.3419A>T (p.Glu1140Val) c.3515A>T (p.Glu1172Val) c.*1499A>T (n.*1499A>T) n.1654A>T c.3518A>T (p.Glu1173Val) c.3476A>T (p.Glu1159Val) c.3461A>T (p.Glu1154Val) c.3449A>T (p.Glu1150Val) c.3422A>T (p.Glu1141Val) c.3404A>T (p.Glu1135Val) n.3717A>T | |
6 | g.75914112A>C | CA364761317 | MYO6 | c.3393A>C (p.Glu1131Asp) c.3489A>C (p.Glu1163Asp) c.3420A>C (p.Glu1140Asp) c.3516A>C (p.Glu1172Asp) c.*1500A>C (n.*1500A>C) n.1655A>C c.3519A>C (p.Glu1173Asp) c.3477A>C (p.Glu1159Asp) c.3462A>C (p.Glu1154Asp) c.3450A>C (p.Glu1150Asp) c.3423A>C (p.Glu1141Asp) c.3405A>C (p.Glu1135Asp) n.3718A>C | |
6 | g.75914112A>G | CA450938492 | MYO6 | c.3393A>G (p.Glu1131=) c.3489A>G (p.Glu1163=) c.3420A>G (p.Glu1140=) c.3516A>G (p.Glu1172=) c.*1500A>G (n.*1500A>G) n.1655A>G c.3519A>G (p.Glu1173=) c.3477A>G (p.Glu1159=) c.3462A>G (p.Glu1154=) c.3450A>G (p.Glu1150=) c.3423A>G (p.Glu1141=) c.3405A>G (p.Glu1135=) n.3718A>G | |
6 | g.75914112A>T | CA364761322 | MYO6 | c.3393A>T (p.Glu1131Asp) c.3489A>T (p.Glu1163Asp) c.3420A>T (p.Glu1140Asp) c.3516A>T (p.Glu1172Asp) c.*1500A>T (n.*1500A>T) n.1655A>T c.3519A>T (p.Glu1173Asp) c.3477A>T (p.Glu1159Asp) c.3462A>T (p.Glu1154Asp) c.3450A>T (p.Glu1150Asp) c.3423A>T (p.Glu1141Asp) c.3405A>T (p.Glu1135Asp) n.3718A>T | |
6 | g.75914113A>C | CA364761325 | MYO6 | c.3394A>C (p.Met1132Leu) c.3490A>C (p.Met1164Leu) c.3421A>C (p.Met1141Leu) c.3517A>C (p.Met1173Leu) c.*1501A>C (n.*1501A>C) n.1656A>C c.3520A>C (p.Met1174Leu) c.3478A>C (p.Met1160Leu) c.3463A>C (p.Met1155Leu) c.3451A>C (p.Met1151Leu) c.3424A>C (p.Met1142Leu) c.3406A>C (p.Met1136Leu) n.3719A>C | |
6 | g.75914113A>G | CA364761327 | MYO6 | c.3394A>G (p.Met1132Val) c.3490A>G (p.Met1164Val) c.3421A>G (p.Met1141Val) c.3517A>G (p.Met1173Val) c.*1501A>G (n.*1501A>G) n.1656A>G c.3520A>G (p.Met1174Val) c.3478A>G (p.Met1160Val) c.3463A>G (p.Met1155Val) c.3451A>G (p.Met1151Val) c.3424A>G (p.Met1142Val) c.3406A>G (p.Met1136Val) n.3719A>G | gnomAD v4 |
6 | g.75914113A>T | CA364761328 | MYO6 | c.3394A>T (p.Met1132Leu) c.3490A>T (p.Met1164Leu) c.3421A>T (p.Met1141Leu) c.3517A>T (p.Met1173Leu) c.*1501A>T (n.*1501A>T) n.1656A>T c.3520A>T (p.Met1174Leu) c.3478A>T (p.Met1160Leu) c.3463A>T (p.Met1155Leu) c.3451A>T (p.Met1151Leu) c.3424A>T (p.Met1142Leu) c.3406A>T (p.Met1136Leu) n.3719A>T | |
6 | g.75914114T>A | CA364761332 | MYO6 | c.3395T>A (p.Met1132Lys) c.3491T>A (p.Met1164Lys) c.3422T>A (p.Met1141Lys) c.3518T>A (p.Met1173Lys) c.*1502T>A (n.*1502T>A) n.1657T>A c.3521T>A (p.Met1174Lys) c.3479T>A (p.Met1160Lys) c.3464T>A (p.Met1155Lys) c.3452T>A (p.Met1151Lys) c.3425T>A (p.Met1142Lys) c.3407T>A (p.Met1136Lys) n.3720T>A | |
6 | g.75914114T>C | CA364761336 | MYO6 | c.3395T>C (p.Met1132Thr) c.3491T>C (p.Met1164Thr) c.3422T>C (p.Met1141Thr) c.3518T>C (p.Met1173Thr) c.*1502T>C (n.*1502T>C) n.1657T>C c.3521T>C (p.Met1174Thr) c.3479T>C (p.Met1160Thr) c.3464T>C (p.Met1155Thr) c.3452T>C (p.Met1151Thr) c.3425T>C (p.Met1142Thr) c.3407T>C (p.Met1136Thr) n.3720T>C | |
6 | g.75914114T>G | CA364761338 | MYO6 | c.3395T>G (p.Met1132Arg) c.3491T>G (p.Met1164Arg) c.3422T>G (p.Met1141Arg) c.3518T>G (p.Met1173Arg) c.*1502T>G (n.*1502T>G) n.1657T>G c.3521T>G (p.Met1174Arg) c.3479T>G (p.Met1160Arg) c.3464T>G (p.Met1155Arg) c.3452T>G (p.Met1151Arg) c.3425T>G (p.Met1142Arg) c.3407T>G (p.Met1136Arg) n.3720T>G | gnomAD v4 |
6 | g.75914115G>A | CA364761343 | MYO6 | c.3396G>A (p.Met1132Ile) c.3492G>A (p.Met1164Ile) c.3423G>A (p.Met1141Ile) c.3519G>A (p.Met1173Ile) c.*1503G>A (n.*1503G>A) n.1658G>A c.3522G>A (p.Met1174Ile) c.3480G>A (p.Met1160Ile) c.3465G>A (p.Met1155Ile) c.3453G>A (p.Met1151Ile) c.3426G>A (p.Met1142Ile) c.3408G>A (p.Met1136Ile) n.3721G>A | COSMIC COSMIC |
6 | g.75914115G>C | CA364761345 | MYO6 | c.3396G>C (p.Met1132Ile) c.3492G>C (p.Met1164Ile) c.3423G>C (p.Met1141Ile) c.3519G>C (p.Met1173Ile) c.*1503G>C (n.*1503G>C) n.1658G>C c.3522G>C (p.Met1174Ile) c.3480G>C (p.Met1160Ile) c.3465G>C (p.Met1155Ile) c.3453G>C (p.Met1151Ile) c.3426G>C (p.Met1142Ile) c.3408G>C (p.Met1136Ile) n.3721G>C | |
6 | g.75914115G>T | CA364761350 | MYO6 | c.3396G>T (p.Met1132Ile) c.3492G>T (p.Met1164Ile) c.3423G>T (p.Met1141Ile) c.3519G>T (p.Met1173Ile) c.*1503G>T (n.*1503G>T) n.1658G>T c.3522G>T (p.Met1174Ile) c.3480G>T (p.Met1160Ile) c.3465G>T (p.Met1155Ile) c.3453G>T (p.Met1151Ile) c.3426G>T (p.Met1142Ile) c.3408G>T (p.Met1136Ile) n.3721G>T | |
6 | g.75914116A>C | CA364761354 | MYO6 | c.3397A>C (p.Asn1133His) c.3493A>C (p.Asn1165His) c.3424A>C (p.Asn1142His) c.3520A>C (p.Asn1174His) c.*1504A>C (n.*1504A>C) n.1659A>C c.3523A>C (p.Asn1175His) c.3481A>C (p.Asn1161His) c.3466A>C (p.Asn1156His) c.3454A>C (p.Asn1152His) c.3427A>C (p.Asn1143His) c.3409A>C (p.Asn1137His) n.3722A>C | |
6 | g.75914116A>G | CA364761356 | MYO6 | c.3397A>G (p.Asn1133Asp) c.3493A>G (p.Asn1165Asp) c.3424A>G (p.Asn1142Asp) c.3520A>G (p.Asn1174Asp) c.*1504A>G (n.*1504A>G) n.1659A>G c.3523A>G (p.Asn1175Asp) c.3481A>G (p.Asn1161Asp) c.3466A>G (p.Asn1156Asp) c.3454A>G (p.Asn1152Asp) c.3427A>G (p.Asn1143Asp) c.3409A>G (p.Asn1137Asp) n.3722A>G | |
6 | g.75914116A>T | CA364761357 | MYO6 | c.3397A>T (p.Asn1133Tyr) c.3493A>T (p.Asn1165Tyr) c.3424A>T (p.Asn1142Tyr) c.3520A>T (p.Asn1174Tyr) c.*1504A>T (n.*1504A>T) n.1659A>T c.3523A>T (p.Asn1175Tyr) c.3481A>T (p.Asn1161Tyr) c.3466A>T (p.Asn1156Tyr) c.3454A>T (p.Asn1152Tyr) c.3427A>T (p.Asn1143Tyr) c.3409A>T (p.Asn1137Tyr) n.3722A>T | |
6 | g.75914117A>C | CA364761363 | MYO6 | c.3398A>C (p.Asn1133Thr) c.3494A>C (p.Asn1165Thr) c.3425A>C (p.Asn1142Thr) c.3521A>C (p.Asn1174Thr) c.*1505A>C (n.*1505A>C) n.1660A>C c.3524A>C (p.Asn1175Thr) c.3482A>C (p.Asn1161Thr) c.3467A>C (p.Asn1156Thr) c.3455A>C (p.Asn1152Thr) c.3428A>C (p.Asn1143Thr) c.3410A>C (p.Asn1137Thr) n.3723A>C | |
6 | g.75914117A>G | CA364761369 | MYO6 | c.3398A>G (p.Asn1133Ser) c.3494A>G (p.Asn1165Ser) c.3425A>G (p.Asn1142Ser) c.3521A>G (p.Asn1174Ser) c.*1505A>G (n.*1505A>G) n.1660A>G c.3524A>G (p.Asn1175Ser) c.3482A>G (p.Asn1161Ser) c.3467A>G (p.Asn1156Ser) c.3455A>G (p.Asn1152Ser) c.3428A>G (p.Asn1143Ser) c.3410A>G (p.Asn1137Ser) n.3723A>G | |
6 | g.75914117A>T | CA364761360 | MYO6 | c.3398A>T (p.Asn1133Ile) c.3494A>T (p.Asn1165Ile) c.3425A>T (p.Asn1142Ile) c.3521A>T (p.Asn1174Ile) c.*1505A>T (n.*1505A>T) n.1660A>T c.3524A>T (p.Asn1175Ile) c.3482A>T (p.Asn1161Ile) c.3467A>T (p.Asn1156Ile) c.3455A>T (p.Asn1152Ile) c.3428A>T (p.Asn1143Ile) c.3410A>T (p.Asn1137Ile) n.3723A>T | |
6 | g.75914118C>A | CA364761373 | MYO6 | c.3399C>A (p.Asn1133Lys) c.3495C>A (p.Asn1165Lys) c.3426C>A (p.Asn1142Lys) c.3522C>A (p.Asn1174Lys) c.*1506C>A (n.*1506C>A) n.1661C>A c.3525C>A (p.Asn1175Lys) c.3483C>A (p.Asn1161Lys) c.3468C>A (p.Asn1156Lys) c.3456C>A (p.Asn1152Lys) c.3429C>A (p.Asn1143Lys) c.3411C>A (p.Asn1137Lys) n.3724C>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.75914118C>G | CA364761375 | MYO6 | c.3399C>G (p.Asn1133Lys) c.3495C>G (p.Asn1165Lys) c.3426C>G (p.Asn1142Lys) c.3522C>G (p.Asn1174Lys) c.*1506C>G (n.*1506C>G) n.1661C>G c.3525C>G (p.Asn1175Lys) c.3483C>G (p.Asn1161Lys) c.3468C>G (p.Asn1156Lys) c.3456C>G (p.Asn1152Lys) c.3429C>G (p.Asn1143Lys) c.3411C>G (p.Asn1137Lys) n.3724C>G | |
6 | g.75914118C>T | CA450938499 | MYO6 | c.3399C>T (p.Asn1133=) c.3495C>T (p.Asn1165=) c.3426C>T (p.Asn1142=) c.3522C>T (p.Asn1174=) c.*1506C>T (n.*1506C>T) n.1661C>T c.3525C>T (p.Asn1175=) c.3483C>T (p.Asn1161=) c.3468C>T (p.Asn1156=) c.3456C>T (p.Asn1152=) c.3429C>T (p.Asn1143=) c.3411C>T (p.Asn1137=) n.3724C>T | |
6 | g.75914119C>A | CA450938500 | MYO6 | c.3400C>A (p.Arg1134=) c.3496C>A (p.Arg1166=) c.3427C>A (p.Arg1143=) c.3523C>A (p.Arg1175=) c.*1507C>A (n.*1507C>A) n.1662C>A c.3526C>A (p.Arg1176=) c.3484C>A (p.Arg1162=) c.3469C>A (p.Arg1157=) c.3457C>A (p.Arg1153=) c.3430C>A (p.Arg1144=) c.3412C>A (p.Arg1138=) n.3725C>A | |
6 | g.75914119C>G | CA364761378 | MYO6 | c.3400C>G (p.Arg1134Gly) c.3496C>G (p.Arg1166Gly) c.3427C>G (p.Arg1143Gly) c.3523C>G (p.Arg1175Gly) c.*1507C>G (n.*1507C>G) n.1662C>G c.3526C>G (p.Arg1176Gly) c.3484C>G (p.Arg1162Gly) c.3469C>G (p.Arg1157Gly) c.3457C>G (p.Arg1153Gly) c.3430C>G (p.Arg1144Gly) c.3412C>G (p.Arg1138Gly) n.3725C>G | |
6 | g.75914119C>T | CA254505 | MYO6 | c.3400C>T (p.Arg1134Ter) c.3496C>T (p.Arg1166Ter) c.3427C>T (p.Arg1143Ter) c.3523C>T (p.Arg1175Ter) c.*1507C>T (n.*1507C>T) n.1662C>T c.3526C>T (p.Arg1176Ter) c.3484C>T (p.Arg1162Ter) c.3469C>T (p.Arg1157Ter) c.3457C>T (p.Arg1153Ter) c.3430C>T (p.Arg1144Ter) c.3412C>T (p.Arg1138Ter) n.3725C>T | ClinVar dbSNP gnomAD v4 |
6 | g.75914121_75914129del | CA568152449 | MYO6 | c.3402_3410del (p.Gln1135_Arg1137del) c.3498_3506del (p.Gln1167_Arg1169del) c.3429_3437del (p.Gln1144_Arg1146del) c.3525_3533del (p.Gln1176_Arg1178del) c.*1509_*1517del (n.*1509_*1517del) n.1664_1672del c.3528_3536del (p.Gln1177_Arg1179del) c.3486_3494del (p.Gln1163_Arg1165del) c.3471_3479del (p.Gln1158_Arg1160del) c.3459_3467del (p.Gln1154_Arg1156del) c.3432_3440del (p.Gln1145_Arg1147del) c.3414_3422del (p.Gln1139_Arg1141del) n.3727_3735del | dbSNP gnomAD v2 gnomAD v4 |
6 | g.75914120G>A | CA3897743 | MYO6 | c.3401G>A (p.Arg1134Gln) c.3497G>A (p.Arg1166Gln) c.3428G>A (p.Arg1143Gln) c.3524G>A (p.Arg1175Gln) c.*1508G>A (n.*1508G>A) n.1663G>A c.3527G>A (p.Arg1176Gln) c.3485G>A (p.Arg1162Gln) c.3470G>A (p.Arg1157Gln) c.3458G>A (p.Arg1153Gln) c.3431G>A (p.Arg1144Gln) c.3413G>A (p.Arg1138Gln) n.3726G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.75914120G>C | CA364761386 | MYO6 | c.3401G>C (p.Arg1134Pro) c.3497G>C (p.Arg1166Pro) c.3428G>C (p.Arg1143Pro) c.3524G>C (p.Arg1175Pro) c.*1508G>C (n.*1508G>C) n.1663G>C c.3527G>C (p.Arg1176Pro) c.3485G>C (p.Arg1162Pro) c.3470G>C (p.Arg1157Pro) c.3458G>C (p.Arg1153Pro) c.3431G>C (p.Arg1144Pro) c.3413G>C (p.Arg1138Pro) n.3726G>C | |
6 | g.75914120G>T | CA3897744 | MYO6 | c.3401G>T (p.Arg1134Leu) c.3497G>T (p.Arg1166Leu) c.3428G>T (p.Arg1143Leu) c.3524G>T (p.Arg1175Leu) c.*1508G>T (n.*1508G>T) n.1663G>T c.3527G>T (p.Arg1176Leu) c.3485G>T (p.Arg1162Leu) c.3470G>T (p.Arg1157Leu) c.3458G>T (p.Arg1153Leu) c.3431G>T (p.Arg1144Leu) c.3413G>T (p.Arg1138Leu) n.3726G>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
6 | g.75914121A>C | CA450938503 | MYO6 | c.3402A>C (p.Arg1134=) c.3498A>C (p.Arg1166=) c.3429A>C (p.Arg1143=) c.3525A>C (p.Arg1175=) c.*1509A>C (n.*1509A>C) n.1664A>C c.3528A>C (p.Arg1176=) c.3486A>C (p.Arg1162=) c.3471A>C (p.Arg1157=) c.3459A>C (p.Arg1153=) c.3432A>C (p.Arg1144=) c.3414A>C (p.Arg1138=) n.3727A>C | |
6 | g.75914121A>G | CA450938501 | MYO6 | c.3402A>G (p.Arg1134=) c.3498A>G (p.Arg1166=) c.3429A>G (p.Arg1143=) c.3525A>G (p.Arg1175=) c.*1509A>G (n.*1509A>G) n.1664A>G c.3528A>G (p.Arg1176=) c.3486A>G (p.Arg1162=) c.3471A>G (p.Arg1157=) c.3459A>G (p.Arg1153=) c.3432A>G (p.Arg1144=) c.3414A>G (p.Arg1138=) n.3727A>G | |
6 | g.75914121A>T | CA450938502 | MYO6 | c.3402A>T (p.Arg1134=) c.3498A>T (p.Arg1166=) c.3429A>T (p.Arg1143=) c.3525A>T (p.Arg1175=) c.*1509A>T (n.*1509A>T) n.1664A>T c.3528A>T (p.Arg1176=) c.3486A>T (p.Arg1162=) c.3471A>T (p.Arg1157=) c.3459A>T (p.Arg1153=) c.3432A>T (p.Arg1144=) c.3414A>T (p.Arg1138=) n.3727A>T | |
6 | g.75914123_75914128dup | CA2739289901 | MYO6 | c.3404_3409dup (p.Gln1136_Arg1137insGlnGln) c.3500_3505dup (p.Gln1168_Arg1169insGlnGln) c.3431_3436dup (p.Gln1145_Arg1146insGlnGln) c.3527_3532dup (p.Gln1177_Arg1178insGlnGln) c.*1511_*1516dup (n.*1511_*1516dup) n.1666_1671dup c.3530_3535dup (p.Gln1178_Arg1179insGlnGln) c.3488_3493dup (p.Gln1164_Arg1165insGlnGln) c.3473_3478dup (p.Gln1159_Arg1160insGlnGln) c.3461_3466dup (p.Gln1155_Arg1156insGlnGln) c.3434_3439dup (p.Gln1146_Arg1147insGlnGln) c.3416_3421dup (p.Gln1140_Arg1141insGlnGln) n.3729_3734dup | |
6 | g.75914122C>A | CA364761393 | MYO6 | c.3403C>A (p.Gln1135Lys) c.3499C>A (p.Gln1167Lys) c.3430C>A (p.Gln1144Lys) c.3526C>A (p.Gln1176Lys) c.*1510C>A (n.*1510C>A) n.1665C>A c.3529C>A (p.Gln1177Lys) c.3487C>A (p.Gln1163Lys) c.3472C>A (p.Gln1158Lys) c.3460C>A (p.Gln1154Lys) c.3433C>A (p.Gln1145Lys) c.3415C>A (p.Gln1139Lys) n.3728C>A | dbSNP |
6 | g.75914122C>G | CA364761395 | MYO6 | c.3403C>G (p.Gln1135Glu) c.3499C>G (p.Gln1167Glu) c.3430C>G (p.Gln1144Glu) c.3526C>G (p.Gln1176Glu) c.*1510C>G (n.*1510C>G) n.1665C>G c.3529C>G (p.Gln1177Glu) c.3487C>G (p.Gln1163Glu) c.3472C>G (p.Gln1158Glu) c.3460C>G (p.Gln1154Glu) c.3433C>G (p.Gln1145Glu) c.3415C>G (p.Gln1139Glu) n.3728C>G | |
6 | g.75914122C>T | CA3897745 | MYO6 | c.3403C>T (p.Gln1135Ter) c.3499C>T (p.Gln1167Ter) c.3430C>T (p.Gln1144Ter) c.3526C>T (p.Gln1176Ter) c.*1510C>T (n.*1510C>T) n.1665C>T c.3529C>T (p.Gln1177Ter) c.3487C>T (p.Gln1163Ter) c.3472C>T (p.Gln1158Ter) c.3460C>T (p.Gln1154Ter) c.3433C>T (p.Gln1145Ter) c.3415C>T (p.Gln1139Ter) n.3728C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.75914123A>C | CA141060160 | MYO6 | c.3404A>C (p.Gln1135Pro) c.3500A>C (p.Gln1167Pro) c.3431A>C (p.Gln1144Pro) c.3527A>C (p.Gln1176Pro) c.*1511A>C (n.*1511A>C) n.1666A>C c.3530A>C (p.Gln1177Pro) c.3488A>C (p.Gln1163Pro) c.3473A>C (p.Gln1158Pro) c.3461A>C (p.Gln1154Pro) c.3434A>C (p.Gln1145Pro) c.3416A>C (p.Gln1139Pro) n.3729A>C | dbSNP |
6 | g.75914123A>G | CA364761400 | MYO6 | c.3404A>G (p.Gln1135Arg) c.3500A>G (p.Gln1167Arg) c.3431A>G (p.Gln1144Arg) c.3527A>G (p.Gln1176Arg) c.*1511A>G (n.*1511A>G) n.1666A>G c.3530A>G (p.Gln1177Arg) c.3488A>G (p.Gln1163Arg) c.3473A>G (p.Gln1158Arg) c.3461A>G (p.Gln1154Arg) c.3434A>G (p.Gln1145Arg) c.3416A>G (p.Gln1139Arg) n.3729A>G | |
6 | g.75914123A>T | CA364761402 | MYO6 | c.3404A>T (p.Gln1135Leu) c.3500A>T (p.Gln1167Leu) c.3431A>T (p.Gln1144Leu) c.3527A>T (p.Gln1176Leu) c.*1511A>T (n.*1511A>T) n.1666A>T c.3530A>T (p.Gln1177Leu) c.3488A>T (p.Gln1163Leu) c.3473A>T (p.Gln1158Leu) c.3461A>T (p.Gln1154Leu) c.3434A>T (p.Gln1145Leu) c.3416A>T (p.Gln1139Leu) n.3729A>T | COSMIC COSMIC |
6 | g.75914124G>A | CA450938504 | MYO6 | c.3405G>A (p.Gln1135=) c.3501G>A (p.Gln1167=) c.3432G>A (p.Gln1144=) c.3528G>A (p.Gln1176=) c.*1512G>A (n.*1512G>A) n.1667G>A c.3531G>A (p.Gln1177=) c.3489G>A (p.Gln1163=) c.3474G>A (p.Gln1158=) c.3462G>A (p.Gln1154=) c.3435G>A (p.Gln1145=) c.3417G>A (p.Gln1139=) n.3730G>A | |
6 | g.75914124G>C | CA364761419 | MYO6 | c.3405G>C (p.Gln1135His) c.3501G>C (p.Gln1167His) c.3432G>C (p.Gln1144His) c.3528G>C (p.Gln1176His) c.*1512G>C (n.*1512G>C) n.1667G>C c.3531G>C (p.Gln1177His) c.3489G>C (p.Gln1163His) c.3474G>C (p.Gln1158His) c.3462G>C (p.Gln1154His) c.3435G>C (p.Gln1145His) c.3417G>C (p.Gln1139His) n.3730G>C | |
6 | g.75914124G>T | CA364761415 | MYO6 | c.3405G>T (p.Gln1135His) c.3501G>T (p.Gln1167His) c.3432G>T (p.Gln1144His) c.3528G>T (p.Gln1176His) c.*1512G>T (n.*1512G>T) n.1667G>T c.3531G>T (p.Gln1177His) c.3489G>T (p.Gln1163His) c.3474G>T (p.Gln1158His) c.3462G>T (p.Gln1154His) c.3435G>T (p.Gln1145His) c.3417G>T (p.Gln1139His) n.3730G>T | |
6 | g.75914125C>A | CA364761431 | MYO6 | c.3406C>A (p.Gln1136Lys) c.3502C>A (p.Gln1168Lys) c.3433C>A (p.Gln1145Lys) c.3529C>A (p.Gln1177Lys) c.*1513C>A (n.*1513C>A) n.1668C>A c.3532C>A (p.Gln1178Lys) c.3490C>A (p.Gln1164Lys) c.3475C>A (p.Gln1159Lys) c.3463C>A (p.Gln1155Lys) c.3436C>A (p.Gln1146Lys) c.3418C>A (p.Gln1140Lys) n.3731C>A | |
6 | g.75914125C>G | CA364761433 | MYO6 | c.3406C>G (p.Gln1136Glu) c.3502C>G (p.Gln1168Glu) c.3433C>G (p.Gln1145Glu) c.3529C>G (p.Gln1177Glu) c.*1513C>G (n.*1513C>G) n.1668C>G c.3532C>G (p.Gln1178Glu) c.3490C>G (p.Gln1164Glu) c.3475C>G (p.Gln1159Glu) c.3463C>G (p.Gln1155Glu) c.3436C>G (p.Gln1146Glu) c.3418C>G (p.Gln1140Glu) n.3731C>G | |
6 | g.75914125C>T | CA364761436 | MYO6 | c.3406C>T (p.Gln1136Ter) c.3502C>T (p.Gln1168Ter) c.3433C>T (p.Gln1145Ter) c.3529C>T (p.Gln1177Ter) c.*1513C>T (n.*1513C>T) n.1668C>T c.3532C>T (p.Gln1178Ter) c.3490C>T (p.Gln1164Ter) c.3475C>T (p.Gln1159Ter) c.3463C>T (p.Gln1155Ter) c.3436C>T (p.Gln1146Ter) c.3418C>T (p.Gln1140Ter) n.3731C>T | |
6 | g.75914126A>C | CA364761438 | MYO6 | c.3407A>C (p.Gln1136Pro) c.3503A>C (p.Gln1168Pro) c.3434A>C (p.Gln1145Pro) c.3530A>C (p.Gln1177Pro) c.*1514A>C (n.*1514A>C) n.1669A>C c.3533A>C (p.Gln1178Pro) c.3491A>C (p.Gln1164Pro) c.3476A>C (p.Gln1159Pro) c.3464A>C (p.Gln1155Pro) c.3437A>C (p.Gln1146Pro) c.3419A>C (p.Gln1140Pro) n.3732A>C | gnomAD v4 |
6 | g.75914126A>G | CA364761441 | MYO6 | c.3407A>G (p.Gln1136Arg) c.3503A>G (p.Gln1168Arg) c.3434A>G (p.Gln1145Arg) c.3530A>G (p.Gln1177Arg) c.*1514A>G (n.*1514A>G) n.1669A>G c.3533A>G (p.Gln1178Arg) c.3491A>G (p.Gln1164Arg) c.3476A>G (p.Gln1159Arg) c.3464A>G (p.Gln1155Arg) c.3437A>G (p.Gln1146Arg) c.3419A>G (p.Gln1140Arg) n.3732A>G | |
6 | g.75914126A>T | CA364761443 | MYO6 | c.3407A>T (p.Gln1136Leu) c.3503A>T (p.Gln1168Leu) c.3434A>T (p.Gln1145Leu) c.3530A>T (p.Gln1177Leu) c.*1514A>T (n.*1514A>T) n.1669A>T c.3533A>T (p.Gln1178Leu) c.3491A>T (p.Gln1164Leu) c.3476A>T (p.Gln1159Leu) c.3464A>T (p.Gln1155Leu) c.3437A>T (p.Gln1146Leu) c.3419A>T (p.Gln1140Leu) n.3732A>T | |
6 | g.75914127A>C | CA364761453 | MYO6 | c.3408A>C (p.Gln1136His) c.3504A>C (p.Gln1168His) c.3435A>C (p.Gln1145His) c.3531A>C (p.Gln1177His) c.*1515A>C (n.*1515A>C) n.1670A>C c.3534A>C (p.Gln1178His) c.3492A>C (p.Gln1164His) c.3477A>C (p.Gln1159His) c.3465A>C (p.Gln1155His) c.3438A>C (p.Gln1146His) c.3420A>C (p.Gln1140His) n.3733A>C | |
6 | g.75914127A>G | CA3897746 | MYO6 | c.3408A>G (p.Gln1136=) c.3504A>G (p.Gln1168=) c.3435A>G (p.Gln1145=) c.3531A>G (p.Gln1177=) c.*1515A>G (n.*1515A>G) n.1670A>G c.3534A>G (p.Gln1178=) c.3492A>G (p.Gln1164=) c.3477A>G (p.Gln1159=) c.3465A>G (p.Gln1155=) c.3438A>G (p.Gln1146=) c.3420A>G (p.Gln1140=) n.3733A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.75914127A>T | CA364761466 | MYO6 | c.3408A>T (p.Gln1136His) c.3504A>T (p.Gln1168His) c.3435A>T (p.Gln1145His) c.3531A>T (p.Gln1177His) c.*1515A>T (n.*1515A>T) n.1670A>T c.3534A>T (p.Gln1178His) c.3492A>T (p.Gln1164His) c.3477A>T (p.Gln1159His) c.3465A>T (p.Gln1155His) c.3438A>T (p.Gln1146His) c.3420A>T (p.Gln1140His) n.3733A>T | |
6 | g.75914128C>A | CA364761471 | MYO6 | c.3409C>A (p.Arg1137Ser) c.3505C>A (p.Arg1169Ser) c.3436C>A (p.Arg1146Ser) c.3532C>A (p.Arg1178Ser) c.*1516C>A (n.*1516C>A) n.1671C>A c.3535C>A (p.Arg1179Ser) c.3493C>A (p.Arg1165Ser) c.3478C>A (p.Arg1160Ser) c.3466C>A (p.Arg1156Ser) c.3439C>A (p.Arg1147Ser) c.3421C>A (p.Arg1141Ser) n.3734C>A | gnomAD v4 |
6 | g.75914128C>G | CA364761472 | MYO6 | c.3409C>G (p.Arg1137Gly) c.3505C>G (p.Arg1169Gly) c.3436C>G (p.Arg1146Gly) c.3532C>G (p.Arg1178Gly) c.*1516C>G (n.*1516C>G) n.1671C>G c.3535C>G (p.Arg1179Gly) c.3493C>G (p.Arg1165Gly) c.3478C>G (p.Arg1160Gly) c.3466C>G (p.Arg1156Gly) c.3439C>G (p.Arg1147Gly) c.3421C>G (p.Arg1141Gly) n.3734C>G | |
6 | g.75914128C>T | CA177362 | MYO6 | c.3409C>T (p.Arg1137Cys) c.3505C>T (p.Arg1169Cys) c.3436C>T (p.Arg1146Cys) c.3532C>T (p.Arg1178Cys) c.*1516C>T (n.*1516C>T) n.1671C>T c.3535C>T (p.Arg1179Cys) c.3493C>T (p.Arg1165Cys) c.3478C>T (p.Arg1160Cys) c.3466C>T (p.Arg1156Cys) c.3439C>T (p.Arg1147Cys) c.3421C>T (p.Arg1141Cys) n.3734C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.75914129G>A | CA3897747 | MYO6 | c.3410G>A (p.Arg1137His) c.3506G>A (p.Arg1169His) c.3437G>A (p.Arg1146His) c.3533G>A (p.Arg1178His) c.*1517G>A (n.*1517G>A) n.1672G>A c.3536G>A (p.Arg1179His) c.3494G>A (p.Arg1165His) c.3479G>A (p.Arg1160His) c.3467G>A (p.Arg1156His) c.3440G>A (p.Arg1147His) c.3422G>A (p.Arg1141His) n.3735G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.75914129G>C | CA364761475 | MYO6 | c.3410G>C (p.Arg1137Pro) c.3506G>C (p.Arg1169Pro) c.3437G>C (p.Arg1146Pro) c.3533G>C (p.Arg1178Pro) c.*1517G>C (n.*1517G>C) n.1672G>C c.3536G>C (p.Arg1179Pro) c.3494G>C (p.Arg1165Pro) c.3479G>C (p.Arg1160Pro) c.3467G>C (p.Arg1156Pro) c.3440G>C (p.Arg1147Pro) c.3422G>C (p.Arg1141Pro) n.3735G>C | |
6 | g.75914129G>T | CA364761474 | MYO6 | c.3410G>T (p.Arg1137Leu) c.3506G>T (p.Arg1169Leu) c.3437G>T (p.Arg1146Leu) c.3533G>T (p.Arg1178Leu) c.*1517G>T (n.*1517G>T) n.1672G>T c.3536G>T (p.Arg1179Leu) c.3494G>T (p.Arg1165Leu) c.3479G>T (p.Arg1160Leu) c.3467G>T (p.Arg1156Leu) c.3440G>T (p.Arg1147Leu) c.3422G>T (p.Arg1141Leu) n.3735G>T | ClinVar |
6 | g.75914130C>A | CA450938505 | MYO6 | c.3411C>A (p.Arg1137=) c.3507C>A (p.Arg1169=) c.3438C>A (p.Arg1146=) c.3534C>A (p.Arg1178=) c.*1518C>A (n.*1518C>A) n.1673C>A c.3537C>A (p.Arg1179=) c.3495C>A (p.Arg1165=) c.3480C>A (p.Arg1160=) c.3468C>A (p.Arg1156=) c.3441C>A (p.Arg1147=) c.3423C>A (p.Arg1141=) n.3736C>A | dbSNP |
6 | g.75914130C>G | CA450938506 | MYO6 | c.3411C>G (p.Arg1137=) c.3507C>G (p.Arg1169=) c.3438C>G (p.Arg1146=) c.3534C>G (p.Arg1178=) c.*1518C>G (n.*1518C>G) n.1673C>G c.3537C>G (p.Arg1179=) c.3495C>G (p.Arg1165=) c.3480C>G (p.Arg1160=) c.3468C>G (p.Arg1156=) c.3441C>G (p.Arg1147=) c.3423C>G (p.Arg1141=) n.3736C>G | |
6 | g.75914130C>T | CA450938507 | MYO6 | c.3411C>T (p.Arg1137=) c.3507C>T (p.Arg1169=) c.3438C>T (p.Arg1146=) c.3534C>T (p.Arg1178=) c.*1518C>T (n.*1518C>T) n.1673C>T c.3537C>T (p.Arg1179=) c.3495C>T (p.Arg1165=) c.3480C>T (p.Arg1160=) c.3468C>T (p.Arg1156=) c.3441C>T (p.Arg1147=) c.3423C>T (p.Arg1141=) n.3736C>T | |
6 | g.75914131T>A | CA364761477 | MYO6 | c.3412T>A (p.Phe1138Ile) c.3508T>A (p.Phe1170Ile) c.3439T>A (p.Phe1147Ile) c.3535T>A (p.Phe1179Ile) c.*1519T>A (n.*1519T>A) n.1674T>A c.3538T>A (p.Phe1180Ile) c.3496T>A (p.Phe1166Ile) c.3481T>A (p.Phe1161Ile) c.3469T>A (p.Phe1157Ile) c.3442T>A (p.Phe1148Ile) c.3424T>A (p.Phe1142Ile) n.3737T>A | |
6 | g.75914131T>C | CA364761479 | MYO6 | c.3412T>C (p.Phe1138Leu) c.3508T>C (p.Phe1170Leu) c.3439T>C (p.Phe1147Leu) c.3535T>C (p.Phe1179Leu) c.*1519T>C (n.*1519T>C) n.1674T>C c.3538T>C (p.Phe1180Leu) c.3496T>C (p.Phe1166Leu) c.3481T>C (p.Phe1161Leu) c.3469T>C (p.Phe1157Leu) c.3442T>C (p.Phe1148Leu) c.3424T>C (p.Phe1142Leu) n.3737T>C | |
6 | g.75914131T>G | CA364761478 | MYO6 | c.3412T>G (p.Phe1138Val) c.3508T>G (p.Phe1170Val) c.3439T>G (p.Phe1147Val) c.3535T>G (p.Phe1179Val) c.*1519T>G (n.*1519T>G) n.1674T>G c.3538T>G (p.Phe1180Val) c.3496T>G (p.Phe1166Val) c.3481T>G (p.Phe1161Val) c.3469T>G (p.Phe1157Val) c.3442T>G (p.Phe1148Val) c.3424T>G (p.Phe1142Val) n.3737T>G | |
6 | g.75914132T>A | CA364761480 | MYO6 | c.3413T>A (p.Phe1138Tyr) c.3509T>A (p.Phe1170Tyr) c.3440T>A (p.Phe1147Tyr) c.3536T>A (p.Phe1179Tyr) c.*1520T>A (n.*1520T>A) n.1675T>A c.3539T>A (p.Phe1180Tyr) c.3497T>A (p.Phe1166Tyr) c.3482T>A (p.Phe1161Tyr) c.3470T>A (p.Phe1157Tyr) c.3443T>A (p.Phe1148Tyr) c.3425T>A (p.Phe1142Tyr) n.3738T>A | |
6 | g.75914132T>C | CA364761485 | MYO6 | c.3413T>C (p.Phe1138Ser) c.3509T>C (p.Phe1170Ser) c.3440T>C (p.Phe1147Ser) c.3536T>C (p.Phe1179Ser) c.*1520T>C (n.*1520T>C) n.1675T>C c.3539T>C (p.Phe1180Ser) c.3497T>C (p.Phe1166Ser) c.3482T>C (p.Phe1161Ser) c.3470T>C (p.Phe1157Ser) c.3443T>C (p.Phe1148Ser) c.3425T>C (p.Phe1142Ser) n.3738T>C | |
6 | g.75914132T>G | CA364761482 | MYO6 | c.3413T>G (p.Phe1138Cys) c.3509T>G (p.Phe1170Cys) c.3440T>G (p.Phe1147Cys) c.3536T>G (p.Phe1179Cys) c.*1520T>G (n.*1520T>G) n.1675T>G c.3539T>G (p.Phe1180Cys) c.3497T>G (p.Phe1166Cys) c.3482T>G (p.Phe1161Cys) c.3470T>G (p.Phe1157Cys) c.3443T>G (p.Phe1148Cys) c.3425T>G (p.Phe1142Cys) n.3738T>G | dbSNP gnomAD v4 |
6 | g.75914133C>A | CA364761488 | MYO6 | c.3414C>A (p.Phe1138Leu) c.3510C>A (p.Phe1170Leu) c.3441C>A (p.Phe1147Leu) c.3537C>A (p.Phe1179Leu) c.*1521C>A (n.*1521C>A) n.1676C>A c.3540C>A (p.Phe1180Leu) c.3498C>A (p.Phe1166Leu) c.3483C>A (p.Phe1161Leu) c.3471C>A (p.Phe1157Leu) c.3444C>A (p.Phe1148Leu) c.3426C>A (p.Phe1142Leu) n.3739C>A | COSMIC COSMIC |
6 | g.75914133C>G | CA364761489 | MYO6 | c.3414C>G (p.Phe1138Leu) c.3510C>G (p.Phe1170Leu) c.3441C>G (p.Phe1147Leu) c.3537C>G (p.Phe1179Leu) c.*1521C>G (n.*1521C>G) n.1676C>G c.3540C>G (p.Phe1180Leu) c.3498C>G (p.Phe1166Leu) c.3483C>G (p.Phe1161Leu) c.3471C>G (p.Phe1157Leu) c.3444C>G (p.Phe1148Leu) c.3426C>G (p.Phe1142Leu) n.3739C>G | |
6 | g.75914133C>T | CA450938508 | MYO6 | c.3414C>T (p.Phe1138=) c.3510C>T (p.Phe1170=) c.3441C>T (p.Phe1147=) c.3537C>T (p.Phe1179=) c.*1521C>T (n.*1521C>T) n.1676C>T c.3540C>T (p.Phe1180=) c.3498C>T (p.Phe1166=) c.3483C>T (p.Phe1161=) c.3471C>T (p.Phe1157=) c.3444C>T (p.Phe1148=) c.3426C>T (p.Phe1142=) n.3739C>T | |
6 | g.75914134T>A | CA364761492 | MYO6 | c.3415T>A (p.Phe1139Ile) c.3511T>A (p.Phe1171Ile) c.3442T>A (p.Phe1148Ile) c.3538T>A (p.Phe1180Ile) c.*1522T>A (n.*1522T>A) n.1677T>A c.3541T>A (p.Phe1181Ile) c.3499T>A (p.Phe1167Ile) c.3484T>A (p.Phe1162Ile) c.3472T>A (p.Phe1158Ile) c.3445T>A (p.Phe1149Ile) c.3427T>A (p.Phe1143Ile) n.3740T>A | |
6 | g.75914134T>C | CA364761494 | MYO6 | c.3415T>C (p.Phe1139Leu) c.3511T>C (p.Phe1171Leu) c.3442T>C (p.Phe1148Leu) c.3538T>C (p.Phe1180Leu) c.*1522T>C (n.*1522T>C) n.1677T>C c.3541T>C (p.Phe1181Leu) c.3499T>C (p.Phe1167Leu) c.3484T>C (p.Phe1162Leu) c.3472T>C (p.Phe1158Leu) c.3445T>C (p.Phe1149Leu) c.3427T>C (p.Phe1143Leu) n.3740T>C | |
6 | g.75914134T>G | CA364761497 | MYO6 | c.3415T>G (p.Phe1139Val) c.3511T>G (p.Phe1171Val) c.3442T>G (p.Phe1148Val) c.3538T>G (p.Phe1180Val) c.*1522T>G (n.*1522T>G) n.1677T>G c.3541T>G (p.Phe1181Val) c.3499T>G (p.Phe1167Val) c.3484T>G (p.Phe1162Val) c.3472T>G (p.Phe1158Val) c.3445T>G (p.Phe1149Val) c.3427T>G (p.Phe1143Val) n.3740T>G |