| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77211331dup | CA278745 | MYO7A | c.6231dup (p.Lys2078GlufsTer?) c.4032dup c.6084dup (p.Lys2029GlufsTer?) c.3657dup (p.Lys1220GlufsTer?) c.6117dup (p.Lys2040GlufsTer?) n.3767dup n.25+420dup n.1698dup c.6114dup (p.Lys2039GlufsTer?) c.6222dup (p.Lys2075GlufsTer?) c.6225dup (p.Lys2076GlufsTer?) c.6198dup (p.Lys2067GlufsTer?) c.6135dup (p.Lys2046GlufsTer?) c.6006dup (p.Lys2003GlufsTer?) c.5994dup (p.Lys1999GlufsTer?) c.5967dup (p.Lys1990GlufsTer?) n.6551dup n.6525dup c.6321dup (p.Lys2108GlufsTer?) c.6315dup (p.Lys2106GlufsTer?) c.6312dup (p.Lys2105GlufsTer?) c.6207dup (p.Lys2070GlufsTer?) c.6204dup (p.Lys2069GlufsTer?) n.6310dup n.6296dup | ClinVar dbSNP |
| 11 | g.77211331del | CA6198954 | MYO7A | c.6231del (p.Trp2077Ter) c.4032del c.6084del (p.Trp2028Ter) c.3657del (p.Trp1219Ter) c.6117del (p.Trp2039Ter) n.3767del n.25+420del n.1698del c.6114del (p.Trp2038Ter) c.6222del (p.Trp2074Ter) c.6225del (p.Trp2075Ter) c.6198del (p.Trp2066Ter) c.6135del (p.Trp2045Ter) c.6006del (p.Trp2002Ter) c.5994del (p.Trp1998Ter) c.5967del (p.Trp1989Ter) n.6551del n.6525del c.6321del (p.Trp2107Ter) c.6315del (p.Trp2105Ter) c.6312del (p.Trp2104Ter) c.6207del (p.Trp2069Ter) c.6204del (p.Trp2068Ter) n.6310del n.6296del | dbSNP ExAC gnomAD v2 |