| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240598657A>G | CA2206078 | CAPN10 | c.1996A>G (p.Ile666Val) c.*1160A>G (n.*1160A>G) c.273+9183A>G (n.273+9183A>G) c.394A>G (p.Ile132Val) c.1531A>G (p.Ile511Val) c.*192A>G (n.*192A>G) c.1950A>G (p.Pro650=) c.*711A>G (n.*711A>G) c.117A>G n.3960A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.240598657A= | CA1339195235 | CAPN10 | c.1996A= (p.Ile666=) c.*1160A= (n.*1160A=) c.273+9183A= (n.273+9183A=) c.394A= (p.Ile132=) c.1531A= (p.Ile511=) c.*192A= (n.*192A=) c.1950A= (p.Pro650=) c.*711A= (n.*711A=) c.117A= n.3960A= | dbSNP |