| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56691261A>G | CA14283560 | MT1A | c.*130+51181A>G (n.*130+51181A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56691261A>C | CA2224267148 | MT1A | c.*130+51181A>C (n.*130+51181A>C) | dbSNP |
| 16 | g.56691261A= | CA2224267147 | MT1A | c.*130+51181A= (n.*130+51181A=) | dbSNP |