| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.179557080G>T | CA422025734 | NPHS2 | c.685C>A (p.Arg229=) c.535-2549C>A (n.535-2549C>A) c.508C>A (p.Arg170=) c.461+2599C>A (n.461+2599C>A) c.534+2599C>A (n.534+2599C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179557080G>A | CA16040668 | NPHS2 | c.685C>T (p.Arg229Ter) c.535-2549C>T (n.535-2549C>T) c.508C>T (p.Arg170Ter) c.461+2599C>T (n.461+2599C>T) c.534+2599C>T (n.534+2599C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.179557080G>C | CA343567612 | NPHS2 | c.685C>G (p.Arg229Gly) c.535-2549C>G (n.535-2549C>G) c.508C>G (p.Arg170Gly) c.461+2599C>G (n.461+2599C>G) c.534+2599C>G (n.534+2599C>G) | dbSNP gnomAD v4 |
| 1 | g.179557080G= | CA1210319242 | NPHS2 | c.685C= (p.Arg229=) c.535-2549C= (n.535-2549C=) c.508C= (p.Arg170=) c.461+2599C= (n.461+2599C=) c.534+2599C= (n.534+2599C=) | dbSNP |