| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.75886881C>T | CA254507 | MYO6 | c.2545C>T (p.Arg849Ter) c.*2101C>T (n.*2101C>T) c.2554C>T (p.Arg852Ter) c.*652C>T (n.*652C>T) c.*2501C>T (n.*2501C>T) c.*570C>T (n.*570C>T) c.2530C>T (p.Arg844Ter) n.2870C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.75886881C>G | CA364775261 | MYO6 | c.2545C>G (p.Arg849Gly) c.*2101C>G (n.*2101C>G) c.2554C>G (p.Arg852Gly) c.*652C>G (n.*652C>G) c.*2501C>G (n.*2501C>G) c.*570C>G (n.*570C>G) c.2530C>G (p.Arg844Gly) n.2870C>G | ClinVar dbSNP |
| 6 | g.75886881C= | CA3134742700 | MYO6 | c.2545C= (p.Arg849=) c.*2101C= (n.*2101C=) c.2554C= (p.Arg852=) c.*652C= (n.*652C=) c.*2501C= (n.*2501C=) c.*570C= (n.*570C=) c.2530C= (p.Arg844=) n.2870C= | dbSNP |