Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.33438897G>A | CA9817226 | SNTA1 | c.440C>T (p.Thr147Ile) n.673C>T c.113C>T (p.Thr38Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33438897G>T | CA235722 | SNTA1 | c.440C>A (p.Thr147Asn) n.673C>A c.113C>A (p.Thr38Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |