| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.107154674G>T | CA365321946 | PDSS2 | c.1145C>A (p.Ser382Ter) c.1343C>A (p.Ser448Ter) c.1211C>A (p.Ser404Ter) c.1208C>A (p.Ser403Ter) c.1013C>A (p.Ser338Ter) c.935C>A (p.Ser312Ter) c.839C>A (p.Ser280Ter) c.737C>A (p.Ser246Ter) | dbSNP |
| 6 | g.107154674G>A | CA114835 | PDSS2 | c.1145C>T (p.Ser382Leu) c.1343C>T (p.Ser448Leu) c.1211C>T (p.Ser404Leu) c.1208C>T (p.Ser403Leu) c.1013C>T (p.Ser338Leu) c.935C>T (p.Ser312Leu) c.839C>T (p.Ser280Leu) c.737C>T (p.Ser246Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |