| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.35848102C>G | CA405404044 | NPHS1 | c.1379G>C (p.Arg460Pro) n.386G>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35848102C>T | CA250119 | NPHS1 | c.1379G>A (p.Arg460Gln) n.386G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35848102C= | CA2333850454 | NPHS1 | c.1379G= (p.Arg460=) n.386G= | dbSNP |