| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.155806513G>A | CA458750786 | SHH | c.345C>T (p.Asn115=) c.84C>T (p.Asn28=) n.254C>T c.6C>T (p.Asn2=) n.345C>T | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.155806513G>T | CA340846 | SHH | c.345C>A (p.Asn115Lys) c.84C>A (p.Asn28Lys) n.254C>A c.6C>A (p.Asn2Lys) n.345C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |