| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71709172G>A | CA16609571 | CDH23 | c.3181G>A (p.Glu1061Lys) c.2612G>A c.3196G>A (p.Glu1066Lys) c.1956G>A c.3376G>A (p.Glu1126Lys) c.3310G>A (p.Glu1104Lys) c.3370G>A (p.Glu1124Lys) c.3316G>A (p.Glu1106Lys) c.3241G>A (p.Glu1081Lys) c.2836G>A (p.Glu946Lys) c.2194G>A (p.Glu732Lys) n.3619G>A | ClinVar dbSNP |
| 10 | g.71709172G= | CA1918840924 | CDH23 | c.3181G= (p.Glu1061=) c.2612G= c.3196G= (p.Glu1066=) c.1956G= c.3376G= (p.Glu1126=) c.3310G= (p.Glu1104=) c.3370G= (p.Glu1124=) c.3316G= (p.Glu1106=) c.3241G= (p.Glu1081=) c.2836G= (p.Glu946=) c.2194G= (p.Glu732=) n.3619G= | dbSNP |