| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77192191del | CA278664 | MYO7A | c.4065del (p.His1355GlnfsTer?) c.1906del c.4032del (p.His1344GlnfsTer?) c.1608del (p.His536GlnfsTer?) n.1608del c.4173del (p.His1391GlnfsTer?) c.4083del (p.His1361GlnfsTer?) c.3954del (p.His1318GlnfsTer?) c.3942del (p.His1314GlnfsTer?) c.3915del (p.His1305GlnfsTer?) n.4385del n.4387del n.4495del c.4155del (p.His1385GlnfsTer?) c.4263del (p.His1421GlnfsTer?) n.4170del n.4278del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77192191C= | CA3182674312 | MYO7A | c.4065C= (p.His1355=) c.1906C= c.4032C= (p.His1344=) c.1608C= (p.His536=) n.1608C= c.4173C= (p.His1391=) c.4083C= (p.His1361=) c.3954C= (p.His1318=) c.3942C= (p.His1314=) c.3915C= (p.His1305=) n.4385C= n.4387C= n.4495C= c.4155C= (p.His1385=) c.4263C= (p.His1421=) n.4170C= n.4278C= | dbSNP dbSNP |