| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.196241987C>T | CA90852858 | PCYT1A,SLC51A | c.669G>A (p.Arg223=) c.58-507C>T (n.58-507C>T) c.471G>A (p.Arg157=) c.288G>A (p.Arg96=) c.486+5380G>A (n.486+5380G>A) | dbSNP |
| 3 | g.196241987C>G | CA214467 | PCYT1A,SLC51A | c.669G>C (p.Arg223Ser) c.58-507C>G (n.58-507C>G) c.471G>C (p.Arg157Ser) c.288G>C (p.Arg96Ser) c.486+5380G>C (n.486+5380G>C) | ClinVar dbSNP |