| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.124398012G>A | CA113943 | OAT | c.1250C>T (p.Pro417Leu) c.836C>T (p.Pro279Leu) c.929C>T (p.Pro310Leu) c.650C>T (p.Pro217Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.124398012G= | CA1942335659 | OAT | c.1250C= (p.Pro417=) c.836C= (p.Pro279=) c.929C= (p.Pro310=) c.650C= (p.Pro217=) | dbSNP |
| 10 | g.124398012G>T | CA378633100 | OAT | c.1250C>A (p.Pro417Gln) c.836C>A (p.Pro279Gln) c.929C>A (p.Pro310Gln) c.650C>A (p.Pro217Gln) | dbSNP gnomAD v4 COSMIC |