| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.179561328G>A | CA117448 | NPHS2 | c.412C>T (p.Arg138Ter) c.275-1567C>T (n.275-1567C>T) c.379-1567C>T (n.379-1567C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.179561328G= | CA1140886942 | NPHS2 | c.412C= (p.Arg138=) c.275-1567C= (n.275-1567C=) c.379-1567C= (n.379-1567C=) | dbSNP |