| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2090309C>T | CA119385 | PKD1 | c.12420G>A (p.Trp4140Ter) c.12417G>A (p.Trp4139Ter) n.448G>A c.9375G>A (p.Trp3125Ter) c.12498G>A (p.Trp4166Ter) c.12495G>A (p.Trp4165Ter) c.12480G>A (p.Trp4160Ter) c.12474G>A (p.Trp4158Ter) c.12471G>A (p.Trp4157Ter) c.12444G>A (p.Trp4148Ter) c.12426G>A (p.Trp4142Ter) c.12372G>A (p.Trp4124Ter) c.12291G>A (p.Trp4097Ter) c.12234G>A (p.Trp4078Ter) c.10320G>A (p.Trp3440Ter) c.9498G>A (p.Trp3166Ter) n.12338G>A c.12540G>A (p.Trp4180Ter) c.12468G>A (p.Trp4156Ter) c.12330G>A (p.Trp4110Ter) c.10416G>A (p.Trp3472Ter) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2090309C= | CA2202041343 | PKD1 | c.12420G= (p.Trp4140=) c.12417G= (p.Trp4139=) n.448G= c.9375G= (p.Trp3125=) c.12498G= (p.Trp4166=) c.12495G= (p.Trp4165=) c.12480G= (p.Trp4160=) c.12474G= (p.Trp4158=) c.12471G= (p.Trp4157=) c.12444G= (p.Trp4148=) c.12426G= (p.Trp4142=) c.12372G= (p.Trp4124=) c.12291G= (p.Trp4097=) c.12234G= (p.Trp4078=) c.10320G= (p.Trp3440=) c.9498G= (p.Trp3166=) n.12338G= c.12540G= (p.Trp4180=) c.12468G= (p.Trp4156=) c.12330G= (p.Trp4110=) c.10416G= (p.Trp3472=) | dbSNP |
| 16 | g.2090309C>A | CA394324610 | PKD1 | c.12420G>T (p.Trp4140Cys) c.12417G>T (p.Trp4139Cys) n.448G>T c.9375G>T (p.Trp3125Cys) c.12498G>T (p.Trp4166Cys) c.12495G>T (p.Trp4165Cys) c.12480G>T (p.Trp4160Cys) c.12474G>T (p.Trp4158Cys) c.12471G>T (p.Trp4157Cys) c.12444G>T (p.Trp4148Cys) c.12426G>T (p.Trp4142Cys) c.12372G>T (p.Trp4124Cys) c.12291G>T (p.Trp4097Cys) c.12234G>T (p.Trp4078Cys) c.10320G>T (p.Trp3440Cys) c.9498G>T (p.Trp3166Cys) n.12338G>T c.12540G>T (p.Trp4180Cys) c.12468G>T (p.Trp4156Cys) c.12330G>T (p.Trp4110Cys) c.10416G>T (p.Trp3472Cys) | dbSNP gnomAD v4 |