| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.50504025G>A | CA127444 | DDC,FIGNL1 | c.749C>T (p.Ser250Phe) c.515C>T (p.Ser172Phe) c.391C>T c.470C>T (p.Ser157Phe) c.635C>T (p.Ser212Phe) c.-11+38493C>T (n.-11+38493C>T) c.605C>T (p.Ser202Phe) c.398C>T (p.Ser133Phe) c.692C>T (p.Ser231Phe) | ClinVar dbSNP gnomAD v4 |
| 7 | g.50504025G= | CA1706633568 | DDC,FIGNL1 | c.749C= (p.Ser250=) c.515C= (p.Ser172=) c.391C= c.470C= (p.Ser157=) c.635C= (p.Ser212=) c.-11+38493C= (n.-11+38493C=) c.605C= (p.Ser202=) c.398C= (p.Ser133=) c.692C= (p.Ser231=) | dbSNP |