| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.46161921C>T | CA10074308 | SPATC1L | c.691G>A (p.Glu231Lys) c.229G>A (p.Glu77Lys) c.349G>A (p.Glu117Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.46161921C= | CA2392532735 | SPATC1L | c.691G= (p.Glu231=) c.229G= (p.Glu77=) c.349G= (p.Glu117=) | dbSNP |
| 21 | g.46161921C>G | CA410528241 | SPATC1L | c.691G>C (p.Glu231Gln) c.229G>C (p.Glu77Gln) c.349G>C (p.Glu117Gln) | dbSNP gnomAD v4 |