Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.179564699del | CA16040670 | NPHS2 | c.369del (p.Cys124AlafsTer2) c.275-4938del (n.275-4938del) | ClinVar dbSNP |
1 | g.179564699G= | CA3071928995 | NPHS2 | c.369C= (p.Phe123=) c.275-4938C= (n.275-4938C=) | dbSNP dbSNP |