Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35848334C>A | CA250109 | NPHS1 | c.1234G>T (p.Gly412Cys) n.241G>T | ClinVar dbSNP ExAC gnomAD v4 |
19 | g.35848334C>T | CA9390496 | NPHS1 | c.1234G>A (p.Gly412Ser) n.241G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848334C>G | CA9390495 | NPHS1 | c.1234G>C (p.Gly412Arg) n.241G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |