Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.179575862C>A | CA343554473 | NPHS2 | c.3G>T (p.Met1Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575862C>G | CA343554475 | NPHS2 | c.3G>C (p.Met1Ile) | dbSNP gnomAD v4 |
1 | g.179575862C>T | CA16040673 | NPHS2 | c.3G>A (p.Met1Ile) | ClinVar dbSNP gnomAD v4 |