| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.35848142C>T | CA200833 | NPHS1 | c.1339G>A (p.Glu447Lys) n.346G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.35848142C>G | CA405404394 | NPHS1 | c.1339G>C (p.Glu447Gln) n.346G>C | dbSNP gnomAD v4 |
| 19 | g.35848142C= | CA2333849917 | NPHS1 | c.1339G= (p.Glu447=) n.346G= | dbSNP |