| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.179559734T>C | CA117456 | NPHS2 | c.479A>G (p.Asp160Gly) c.302A>G (p.Asp101Gly) c.406A>G (p.Ile136Val) | ClinVar dbSNP |
| 1 | g.179559734T>A | CA343568973 | NPHS2 | c.479A>T (p.Asp160Val) c.302A>T (p.Asp101Val) c.406A>T (p.Ile136Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.179559734T= | CA1140886940 | NPHS2 | c.479A= (p.Asp160=) c.302A= (p.Asp101=) c.406A= (p.Ile136=) | dbSNP |