| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.179575591C>A | CA117454 | NPHS2 | c.274G>T (p.Gly92Cys) | ClinVar dbSNP COSMIC |
| 1 | g.179575591C>G | CA343552402 | NPHS2 | c.274G>C (p.Gly92Arg) | dbSNP |
| 1 | g.179575591C>T | CA343552395 | NPHS2 | c.274G>A (p.Gly92Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.179575591C= | CA1140886939 | NPHS2 | c.274G= (p.Gly92=) | dbSNP |