| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.53959831del | CA16041366 | PCDH15 | c.3059del (p.Ala1020ValfsTer8) c.3023del (p.Ala1008ValfsTer8) c.3044del (p.Ala1015ValfsTer8) c.1882del c.*978del (n.*978del) c.3038del (p.Ala1013ValfsTer8) c.2912del (p.Ala971ValfsTer8) c.2957del (p.Ala986ValfsTer8) c.1306-150285del (n.1306-150285del) c.1099-150285del (n.1099-150285del) c.2091+119500del (n.2091+119500del) c.1856del (p.Ala619ValfsTer8) c.877-119335del (n.877-119335del) c.2810del (p.Ala937ValfsTer8) c.-24-102568del (n.-24-102568del) n.4036del | ClinVar dbSNP |
| 10 | g.53959831G= | CA3174440538 | PCDH15 | c.3059C= (p.Ala1020=) c.3023C= (p.Ala1008=) c.3044C= (p.Ala1015=) c.1882C= c.*978C= (n.*978C=) c.3038C= (p.Ala1013=) c.2912C= (p.Ala971=) c.2957C= (p.Ala986=) c.1306-150285C= (n.1306-150285C=) c.1099-150285C= (n.1099-150285C=) c.2091+119500C= (n.2091+119500C=) c.1856C= (p.Ala619=) c.877-119335C= (n.877-119335C=) c.2810C= (p.Ala937=) c.-24-102568C= (n.-24-102568C=) n.4036C= | dbSNP |