| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.43065417G>C | CA320697 | CBS | c.636C>G (p.Asn212Lys) n.947C>G c.687C>G (p.Asn229Lys) c.321C>G (p.Asn107Lys) n.1007C>G n.786C>G | ClinVar dbSNP gnomAD v4 |
| 21 | g.43065417G>A | CA289972 | CBS | c.636C>T (p.Asn212=) n.947C>T c.687C>T (p.Asn229=) c.321C>T (p.Asn107=) n.1007C>T n.786C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |