| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.53938847del | CA16041363 | PCDH15 | c.3377del (p.Val1126GlyfsTer?) c.3341del (p.Val1114GlyfsTer?) c.3362del (p.Val1121GlyfsTer?) c.2200del c.*1296del (n.*1296del) c.3356del (p.Val1119GlyfsTer?) c.3230del (p.Val1077GlyfsTer?) c.3275del (p.Val1092GlyfsTer?) c.1306-129301del (n.1306-129301del) c.1099-129301del (n.1099-129301del) c.2092-129301del (n.2092-129301del) c.2174del (p.Val725GlyfsTer?) c.877-98351del (n.877-98351del) c.3128del (p.Val1043GlyfsTer?) c.-24-81584del (n.-24-81584del) n.4354del | ClinVar dbSNP |
| 10 | g.53938847A= | CA1910788435 | PCDH15 | c.3377T= (p.Val1126=) c.3341T= (p.Val1114=) c.3362T= (p.Val1121=) c.2200T= c.*1296T= (n.*1296T=) c.3356T= (p.Val1119=) c.3230T= (p.Val1077=) c.3275T= (p.Val1092=) c.1306-129301T= (n.1306-129301T=) c.1099-129301T= (n.1099-129301T=) c.2092-129301T= (n.2092-129301T=) c.2174T= (p.Val725=) c.877-98351T= (n.877-98351T=) c.3128T= (p.Val1043=) c.-24-81584T= (n.-24-81584T=) n.4354T= | dbSNP dbSNP |