Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.5494466G>T | CA6400041 | NTF3 | c.291G>T (p.Pro97=) c.252G>T (p.Pro84=) n.232-12099G>T n.481G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5494466G>A | CA6400040 | NTF3 | c.291G>A (p.Pro97=) c.252G>A (p.Pro84=) n.232-12099G>A n.481G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |