| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.32110063C>G | CA10198350 | SLC5A1 | c.1845C>G (p.His615Gln) c.1464C>G (p.His488Gln) n.487-3121G>C n.486+9792G>C n.491-3121G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.32110063C>T | CA10198351 | SLC5A1 | c.1845C>T (p.His615=) c.1464C>T (p.His488=) n.487-3121G>A n.486+9792G>A n.491-3121G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |