| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.231272345A>G | CA129915 | GNPAT | c.1556A>G (p.Asp519Gly) c.*1242A>G (n.*1242A>G) c.1526A>G (p.Asp509Gly) c.1373A>G (p.Asp458Gly) c.1553A>G (p.Asp518Gly) c.1229A>G (p.Asp410Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.231272345A>T | CA1452059 | GNPAT | c.1556A>T (p.Asp519Val) c.*1242A>T (n.*1242A>T) c.1526A>T (p.Asp509Val) c.1373A>T (p.Asp458Val) c.1553A>T (p.Asp518Val) c.1229A>T (p.Asp410Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.231272345A= | CA1140265697 | GNPAT | c.1556A= (p.Asp519=) c.*1242A= (n.*1242A=) c.1526A= (p.Asp509=) c.1373A= (p.Asp458=) c.1553A= (p.Asp518=) c.1229A= (p.Asp410=) | dbSNP |
| 1 | g.231272345A>C | CA345237968 | GNPAT | c.1556A>C (p.Asp519Ala) c.*1242A>C (n.*1242A>C) c.1526A>C (p.Asp509Ala) c.1373A>C (p.Asp458Ala) c.1553A>C (p.Asp518Ala) c.1229A>C (p.Asp410Ala) | dbSNP |