| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.5863955G>A | CA235731 | NPHP4 | c.4075C>T (p.Arg1359Trp) n.3226C>T c.*2976C>T (n.*2976C>T) n.2823C>T n.3807C>T c.*1886C>T (n.*1886C>T) c.2536C>T (p.Arg846Trp) c.2539C>T (p.Arg847Trp) n.4890C>T c.4072C>T (p.Arg1358Trp) c.4033C>T (p.Arg1345Trp) c.3964C>T (p.Arg1322Trp) c.4021C>T (p.Arg1341Trp) c.4030C>T (p.Arg1344Trp) c.3547C>T (p.Arg1183Trp) c.3277C>T (p.Arg1093Trp) n.3941C>T n.3926C>T n.4842C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.5863955G>T | CA415787004 | NPHP4 | c.4075C>A (p.Arg1359=) n.3226C>A c.*2976C>A (n.*2976C>A) n.2823C>A n.3807C>A c.*1886C>A (n.*1886C>A) c.2536C>A (p.Arg846=) c.2539C>A (p.Arg847=) n.4890C>A c.4072C>A (p.Arg1358=) c.4033C>A (p.Arg1345=) c.3964C>A (p.Arg1322=) c.4021C>A (p.Arg1341=) c.4030C>A (p.Arg1344=) c.3547C>A (p.Arg1183=) c.3277C>A (p.Arg1093=) n.3941C>A n.3926C>A n.4842C>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.5863955G= | CA1143645390 | NPHP4 | c.4075C= (p.Arg1359=) n.3226C= c.*2976C= (n.*2976C=) n.2823C= n.3807C= c.*1886C= (n.*1886C=) c.2536C= (p.Arg846=) c.2539C= (p.Arg847=) n.4890C= c.4072C= (p.Arg1358=) c.4033C= (p.Arg1345=) c.3964C= (p.Arg1322=) c.4021C= (p.Arg1341=) c.4030C= (p.Arg1344=) c.3547C= (p.Arg1183=) c.3277C= (p.Arg1093=) n.3941C= n.3926C= n.4842C= | dbSNP |