| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.35843579G>A | CA250178 | NPHS1 | c.2227C>T (p.Arg743Cys) n.918C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.35843579G= | CA2333848027 | NPHS1 | c.2227C= (p.Arg743=) n.918C= | dbSNP |
| 19 | g.35843579G>T | CA405396868 | NPHS1 | c.2227C>A (p.Arg743Ser) n.918C>A | dbSNP |
| 19 | g.35843579G>C | CA405396874 | NPHS1 | c.2227C>G (p.Arg743Gly) n.918C>G | dbSNP gnomAD v4 |