| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.216064386T>G | CA731413128 | USH2A | c.6049+5715A>C (n.6049+5715A>C) | dbSNP |
| 1 | g.216064386T>C | CA10992728 | USH2A | c.6049+5715A>G (n.6049+5715A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216064386T= | CA1139882364 | USH2A | c.6049+5715A= (n.6049+5715A=) | dbSNP |
| 1 | g.216064386T>A | CA2580576481 | USH2A | c.6049+5715A>T (n.6049+5715A>T) | dbSNP |