| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.27309945G>A | CA346205387 | MPV17 | c.498C>T (p.Asn166=) c.330C>T (p.Asn110=) c.445C>T (p.Leu149Phe) c.*77C>T (n.*77C>T) c.309C>T (p.Asn103=) c.543C>T (p.Asn181=) c.*299C>T (n.*299C>T) c.*163C>T (n.*163C>T) c.332C>T n.171C>T n.801C>T c.339C>T (p.Asn113=) c.450C>T (p.Asn150=) c.480C>T (p.Asn160=) | ClinVar dbSNP |
| 2 | g.27309945G>T | CA341381 | MPV17 | c.498C>A (p.Asn166Lys) c.330C>A (p.Asn110Lys) c.445C>A (p.Leu149Ile) c.*77C>A (n.*77C>A) c.309C>A (p.Asn103Lys) c.543C>A (p.Asn181Lys) c.*299C>A (n.*299C>A) c.*163C>A (n.*163C>A) c.332C>A n.171C>A n.801C>A c.339C>A (p.Asn113Lys) c.450C>A (p.Asn150Lys) c.480C>A (p.Asn160Lys) | ClinVar dbSNP |