| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.18142781del | CA273639 | MYO15A | c.5851del (p.Ser1951ValfsTer3) c.5845del (p.Ser1949ValfsTer3) n.6504del c.5854del (p.Ser1952ValfsTer3) n.6543del | ClinVar dbSNP |
| 17 | g.18142781A= | CA2250848991 | MYO15A | c.5851A= (p.Ser1951=) c.5845A= (p.Ser1949=) n.6504A= c.5854A= (p.Ser1952=) n.6543A= | dbSNP dbSNP |