1 | g.179559710C>T | CA199046 | NPHS2 | c.503G>A (p.Arg168His) c.326G>A (p.Arg109His) c.430G>A (p.Val144Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.179559710C= | CA1144468076 | NPHS2 | c.503G= (p.Arg168=) c.326G= (p.Arg109=) c.430G= (p.Val144=)
| dbSNP |