| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.43065645C>A | CA410601371 | CBS | c.502G>T (p.Val168Leu) n.813G>T c.553G>T (p.Val185Leu) c.187G>T (p.Val63Leu) n.873G>T n.652G>T | dbSNP |
| 21 | g.43065645C>T | CA113895 | CBS | c.502G>A (p.Val168Met) n.813G>A c.553G>A (p.Val185Met) c.187G>A (p.Val63Met) n.873G>A n.652G>A | ClinVar dbSNP gnomAD v4 |
| 21 | g.43065645C>G | CA410601372 | CBS | c.502G>C (p.Val168Leu) n.813G>C c.553G>C (p.Val185Leu) c.187G>C (p.Val63Leu) n.873G>C n.652G>C | ClinVar dbSNP |
| 21 | g.43065645C= | CA2391103866 | CBS | c.502G= (p.Val168=) n.813G= c.553G= (p.Val185=) c.187G= (p.Val63=) n.873G= n.652G= | dbSNP |