| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.10463995C>T | CA12075663 | ROPN1L | c.594-853C>T (n.594-853C>T) n.885+2636C>T c.593+2636C>T (n.593+2636C>T) c.26C>T (p.Thr9Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.10463995C= | CA1527029396 | ROPN1L | c.594-853C= (n.594-853C=) n.885+2636C= c.593+2636C= (n.593+2636C=) c.26C= (p.Thr9=) | dbSNP |
| 5 | g.10463995C>A | CA2581469987 | ROPN1L | c.594-853C>A (n.594-853C>A) n.885+2636C>A c.593+2636C>A (n.593+2636C>A) c.26C>A (p.Thr9Lys) | dbSNP |
| 5 | g.10463995C>G | CA2581469986 | ROPN1L | c.594-853C>G (n.594-853C>G) n.885+2636C>G c.593+2636C>G (n.593+2636C>G) c.26C>G (p.Thr9Arg) | dbSNP |