| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.42417960G>A | CA346850 | SLC20A2 | c.1802C>T (p.Ser601Leu) c.*39C>T (n.*39C>T) c.1661C>T (p.Ser554Leu) c.1391C>T (p.Ser464Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.42417960G>C | CA346848 | SLC20A2 | c.1802C>G (p.Ser601Trp) c.*39C>G (n.*39C>G) c.1661C>G (p.Ser554Trp) c.1391C>G (p.Ser464Trp) | ClinVar dbSNP |
| 8 | g.42417960G= | CA1779418393 | SLC20A2 | c.1802C= (p.Ser601=) c.*39C= (n.*39C=) c.1661C= (p.Ser554=) c.1391C= (p.Ser464=) | dbSNP |