| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.54609389C>T | CA866857 | ACOT11,FAM151A | c.1637G>A (p.Gly546Asp) c.*277C>T (n.*277C>T) c.1076G>A (p.Gly359Asp) c.1629+1321C>T (n.1629+1321C>T) n.2140C>T c.1559G>A (p.Gly520Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54609389C>A | CA340441247 | ACOT11,FAM151A | c.1637G>T (p.Gly546Val) c.*277C>A (n.*277C>A) c.1076G>T (p.Gly359Val) c.1629+1321C>A (n.1629+1321C>A) n.2140C>A c.1559G>T (p.Gly520Val) | dbSNP |
| 1 | g.54609389C= | CA1139926633 | ACOT11,FAM151A | c.1637G= (p.Gly546=) c.*277C= (n.*277C=) c.1076G= (p.Gly359=) c.1629+1321C= (n.1629+1321C=) n.2140C= c.1559G= (p.Gly520=) | dbSNP |