Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.109850287T>A | CA1571948984 | MAN2A1 | c.2976+2497T>A (n.2976+2497T>A) c.2829+2497T>A (n.2829+2497T>A) c.2382+2497T>A (n.2382+2497T>A) n.4101+2497T>A | dbSNP |
5 | g.109850287T>G | CA12120392 | MAN2A1 | c.2976+2497T>G (n.2976+2497T>G) c.2829+2497T>G (n.2829+2497T>G) c.2382+2497T>G (n.2382+2497T>G) n.4101+2497T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |