| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149027090T>A | CA342380 | SH3TC2 | c.2538A>T c.2642A>T (p.Asn881Ile) c.*1926A>T (n.*1926A>T) c.*2152A>T (n.*2152A>T) c.*2030A>T (n.*2030A>T) c.2172A>T (n.2172A>T) c.1692A>T c.*2422A>T (n.*2422A>T) c.2621A>T (p.Asn874Ile) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149027090T>C | CA3498953 | SH3TC2 | c.2538A>G c.2642A>G (p.Asn881Ser) c.*1926A>G (n.*1926A>G) c.*2152A>G (n.*2152A>G) c.*2030A>G (n.*2030A>G) c.2172A>G (n.2172A>G) c.1692A>G c.*2422A>G (n.*2422A>G) c.2621A>G (p.Asn874Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |