| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73638492del | CA234945 | SLC17A5 | c.533del (p.Thr178AsnfsTer?) n.299del c.482del (p.Thr161AsnfsTer?) c.335del (p.Thr112AsnfsTer?) c.302del (p.Thr101AsnfsTer?) c.554del (p.Thr185AsnfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73638492G= | CA1638220488 | SLC17A5 | c.533C= (p.Thr178=) n.299C= c.482C= (p.Thr161=) c.335C= (p.Thr112=) c.302C= (p.Thr101=) c.554C= (p.Thr185=) | dbSNP dbSNP |