| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.54629679C>T | CA270095 | RP1 | c.5797C>T (p.Arg1933Ter) c.787+7391C>T (n.787+7391C>T) c.5818C>T (p.Arg1940Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54629679C>A | CA461100669 | RP1 | c.5797C>A (p.Arg1933=) c.787+7391C>A (n.787+7391C>A) c.5818C>A (p.Arg1940=) | dbSNP gnomAD v4 |
| 8 | g.54629679C= | CA1785165011 | RP1 | c.5797C= (p.Arg1933=) c.787+7391C= (n.787+7391C=) c.5818C= (p.Arg1940=) | dbSNP |