| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77179069del | CA16609575 | MYO7A | c.2307del (p.Asn769LysfsTer5) c.372del (p.Asn124LysfsTer5) c.148del c.2274del (p.Asn758LysfsTer5) c.2076del (p.Asn692LysfsTer5) c.2049del (p.Asn683LysfsTer5) n.2627del n.2629del c.2397del (p.Asn799LysfsTer5) c.2166del (p.Asn722LysfsTer5) n.2412del | ClinVar dbSNP |
| 11 | g.77179069C= | CA1984120919 | MYO7A | c.2307C= (p.Asn769=) c.372C= (p.Asn124=) c.148C= c.2274C= (p.Asn758=) c.2076C= (p.Asn692=) c.2049C= (p.Asn683=) n.2627C= n.2629C= c.2397C= (p.Asn799=) c.2166C= (p.Asn722=) n.2412C= | dbSNP dbSNP |