| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71809867_71809868insTGGCTGTA | CA16618984 | CDH23 | c.8770_8771insTGGCTGTA (p.Ser2924MetfsTer31) c.2703_2704insTGGCTGTA (n.2703_2704insTGGCTGTA) c.2367_2368insTGGCTGTA (n.2367_2368insTGGCTGTA) c.8785_8786insTGGCTGTA (p.Ser2929MetfsTer31) c.2050_2051insTGGCTGTA (p.Ser684MetfsTer31) n.2306_2307insTGGCTGTA c.8965_8966insTGGCTGTA (p.Ser2989MetfsTer31) c.8899_8900insTGGCTGTA (p.Ser2967MetfsTer31) c.8962_8963insTGGCTGTA (p.Ser2988MetfsTer31) c.8959_8960insTGGCTGTA (p.Ser2987MetfsTer31) c.8905_8906insTGGCTGTA (p.Ser2969MetfsTer31) c.8875_8876insTGGCTGTA (p.Ser2959MetfsTer31) c.8830_8831insTGGCTGTA (p.Ser2944MetfsTer31) c.8425_8426insTGGCTGTA (p.Ser2809MetfsTer31) c.7783_7784insTGGCTGTA (p.Ser2595MetfsTer31) c.5293_5294insTGGCTGTA (p.Ser1765MetfsTer31) | ClinVar dbSNP |
| 10 | g.71809867A= | CA3174440491 | CDH23 | c.8770A= (p.Ser2924=) c.2703A= (n.2703A=) c.2367A= (n.2367A=) c.8785A= (p.Ser2929=) c.2050A= (p.Ser684=) n.2306A= c.8965A= (p.Ser2989=) c.8899A= (p.Ser2967=) c.8962A= (p.Ser2988=) c.8959A= (p.Ser2987=) c.8905A= (p.Ser2969=) c.8875A= (p.Ser2959=) c.8830A= (p.Ser2944=) c.8425A= (p.Ser2809=) c.7783A= (p.Ser2595=) c.5293A= (p.Ser1765=) | dbSNP dbSNP |