| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.35831116G>T | CA9389760 | NPHS1 | c.3418C>A (p.Arg1140Ser) c.3298C>A (p.Arg1100Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35831116G>A | CA250229 | NPHS1 | c.3418C>T (p.Arg1140Cys) c.3298C>T (p.Arg1100Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35831116G>C | CA405416265 | NPHS1 | c.3418C>G (p.Arg1140Gly) c.3298C>G (p.Arg1100Gly) | dbSNP gnomAD v4 |
| 19 | g.35831116G= | CA2333842013 | NPHS1 | c.3418C= (p.Arg1140=) c.3298C= (p.Arg1100=) | dbSNP |