| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.74919525del | CA10605752 | USH1G | c.1311del (p.Lys438ArgfsTer6) c.*910del (n.*910del) c.1002del (p.Lys335ArgfsTer6) | ClinVar dbSNP |
| 17 | g.74919525C= | CA3223377011 | USH1G | c.1311G= (p.Lys437=) c.*910G= (n.*910G=) c.1002G= (p.Lys334=) | dbSNP |