| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.53959772del | CA16041365 | PCDH15 | c.3118del (p.His1040IlefsTer18) c.3082del (p.His1028IlefsTer18) c.3103del (p.His1035IlefsTer18) c.1941del c.*1037del (n.*1037del) c.3097del (p.His1033IlefsTer18) c.2971del (p.His991IlefsTer18) c.3016del (p.His1006IlefsTer18) c.1306-150226del (n.1306-150226del) c.1099-150226del (n.1099-150226del) c.2091+119559del (n.2091+119559del) c.1915del (p.His639IlefsTer18) c.877-119276del (n.877-119276del) c.2869del (p.His957IlefsTer18) c.-24-102509del (n.-24-102509del) n.4095del | ClinVar dbSNP |
| 10 | g.53959772G= | CA1910842042 | PCDH15 | c.3118C= (p.His1040=) c.3082C= (p.His1028=) c.3103C= (p.His1035=) c.1941C= c.*1037C= (n.*1037C=) c.3097C= (p.His1033=) c.2971C= (p.His991=) c.3016C= (p.His1006=) c.1306-150226C= (n.1306-150226C=) c.1099-150226C= (n.1099-150226C=) c.2091+119559C= (n.2091+119559C=) c.1915C= (p.His639=) c.877-119276C= (n.877-119276C=) c.2869C= (p.His957=) c.-24-102509C= (n.-24-102509C=) n.4095C= | dbSNP dbSNP |