| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.135621138C>T | CA2715626910 | NUP205 | c.4330+1250C>T (n.4330+1250C>T) c.75+1250C>T n.2608+1250C>T c.3256+1250C>T (n.3256+1250C>T) | dbSNP |
| 7 | g.135621138C>A | CA12675906 | NUP205 | c.4330+1250C>A (n.4330+1250C>A) c.75+1250C>A n.2608+1250C>A c.3256+1250C>A (n.3256+1250C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |