| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77208433C>A | CA132405 | MYO7A | c.5860C>A (p.Leu1954Ile) c.3687C>A c.5713C>A (p.Leu1905Ile) c.3286C>A (p.Leu1096Ile) c.5746C>A (p.Leu1916Ile) n.3396C>A n.774C>A c.5743C>A (p.Leu1915Ile) c.5851C>A (p.Leu1951Ile) c.5854C>A (p.Leu1952Ile) c.5827C>A (p.Leu1943Ile) c.5764C>A (p.Leu1922Ile) c.5635C>A (p.Leu1879Ile) c.5623C>A (p.Leu1875Ile) c.5596C>A (p.Leu1866Ile) n.6180C>A c.5950C>A (p.Leu1984Ile) c.5944C>A (p.Leu1982Ile) c.5941C>A (p.Leu1981Ile) c.5836C>A (p.Leu1946Ile) c.5833C>A (p.Leu1945Ile) n.5965C>A n.5880C>A n.5951C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77208433C>T | CA381932484 | MYO7A | c.5860C>T (p.Leu1954Phe) c.3687C>T c.5713C>T (p.Leu1905Phe) c.3286C>T (p.Leu1096Phe) c.5746C>T (p.Leu1916Phe) n.3396C>T n.774C>T c.5743C>T (p.Leu1915Phe) c.5851C>T (p.Leu1951Phe) c.5854C>T (p.Leu1952Phe) c.5827C>T (p.Leu1943Phe) c.5764C>T (p.Leu1922Phe) c.5635C>T (p.Leu1879Phe) c.5623C>T (p.Leu1875Phe) c.5596C>T (p.Leu1866Phe) n.6180C>T c.5950C>T (p.Leu1984Phe) c.5944C>T (p.Leu1982Phe) c.5941C>T (p.Leu1981Phe) c.5836C>T (p.Leu1946Phe) c.5833C>T (p.Leu1945Phe) n.5965C>T n.5880C>T n.5951C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77208433C>G | CA6198859 | MYO7A | c.5860C>G (p.Leu1954Val) c.3687C>G c.5713C>G (p.Leu1905Val) c.3286C>G (p.Leu1096Val) c.5746C>G (p.Leu1916Val) n.3396C>G n.774C>G c.5743C>G (p.Leu1915Val) c.5851C>G (p.Leu1951Val) c.5854C>G (p.Leu1952Val) c.5827C>G (p.Leu1943Val) c.5764C>G (p.Leu1922Val) c.5635C>G (p.Leu1879Val) c.5623C>G (p.Leu1875Val) c.5596C>G (p.Leu1866Val) n.6180C>G c.5950C>G (p.Leu1984Val) c.5944C>G (p.Leu1982Val) c.5941C>G (p.Leu1981Val) c.5836C>G (p.Leu1946Val) c.5833C>G (p.Leu1945Val) n.5965C>G n.5880C>G n.5951C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |