Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.170108274G>A | CA254394 | FOXI1 | c.800G>A (p.Arg267Gln) c.575-60G>A (n.575-60G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.170108274G>C | CA362127427 | FOXI1 | c.800G>C (p.Arg267Pro) c.575-60G>C (n.575-60G>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.170108274G>T | CA362127430 | FOXI1 | c.800G>T (p.Arg267Leu) c.575-60G>T (n.575-60G>T) | dbSNP gnomAD v4 |
5 | g.170108274G= | CA1600185004 | FOXI1 | c.800G= (p.Arg267=) c.575-60G= (n.575-60G=) | dbSNP |