| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42630986G>A | CA114084 | CYB5R3 | c.229C>T (p.Gln77Ter) c.160C>T (p.Gln54Ter) c.247C>T (p.Gln83Ter) n.296C>T c.*178C>T (n.*178C>T) n.290C>T c.328C>T (p.Gln110Ter) n.636C>T n.396C>T n.391C>T n.306C>T c.208C>T (p.Gln70Ter) n.253C>T c.149C>T (p.Pro50Leu) c.222C>T (p.Ala74=) c.135C>T (p.Ala45=) n.457C>T n.2363C>T | ClinVar dbSNP gnomAD v4 |
| 22 | g.42630986G= | CA2406839101 | CYB5R3 | c.229C= (p.Gln77=) c.160C= (p.Gln54=) c.247C= (p.Gln83=) n.296C= c.*178C= (n.*178C=) n.290C= c.328C= (p.Gln110=) n.636C= n.396C= n.391C= n.306C= c.208C= (p.Gln70=) n.253C= c.149C= (p.Pro50=) c.222C= (p.Ala74=) c.135C= (p.Ala45=) n.457C= n.2363C= | dbSNP |