| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73615425G>C | CA253539 | SLC17A5 | c.1001C>G (p.Pro334Arg) c.950C>G (p.Pro317Arg) c.803C>G (p.Pro268Arg) c.770C>G (p.Pro257Arg) c.1022C>G (p.Pro341Arg) c.914C>G (p.Pro305Arg) c.842C>G (p.Pro281Arg) c.998C>G (p.Pro333Arg) c.683C>G (p.Pro228Arg) | ClinVar dbSNP |
| 6 | g.73615425G>A | CA364712386 | SLC17A5 | c.1001C>T (p.Pro334Leu) c.950C>T (p.Pro317Leu) c.803C>T (p.Pro268Leu) c.770C>T (p.Pro257Leu) c.1022C>T (p.Pro341Leu) c.914C>T (p.Pro305Leu) c.842C>T (p.Pro281Leu) c.998C>T (p.Pro333Leu) c.683C>T (p.Pro228Leu) | dbSNP gnomAD v3 gnomAD v4 |