| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77205599G>T | CA224853991 | MYO7A | c.5618G>T (p.Arg1873Leu) c.3445G>T c.5471G>T (p.Arg1824Leu) c.3044G>T (p.Arg1015Leu) c.5504G>T (p.Arg1835Leu) n.3154G>T n.239G>T c.5501G>T (p.Arg1834Leu) c.5609G>T (p.Arg1870Leu) c.5612G>T (p.Arg1871Leu) c.5585G>T (p.Arg1862Leu) c.5522G>T (p.Arg1841Leu) c.5393G>T (p.Arg1798Leu) c.5381G>T (p.Arg1794Leu) c.5354G>T (p.Arg1785Leu) c.5533G>T (p.Gly1845Cys) n.5938G>T n.5841G>T c.5708G>T (p.Arg1903Leu) c.5702G>T (p.Arg1901Leu) c.5699G>T (p.Arg1900Leu) c.5594G>T (p.Arg1865Leu) c.5591G>T (p.Arg1864Leu) n.5723G>T n.5638G>T n.5709G>T n.5624G>T | ClinVar dbSNP |
| 11 | g.77205599G>A | CA278687 | MYO7A | c.5618G>A (p.Arg1873Gln) c.3445G>A c.5471G>A (p.Arg1824Gln) c.3044G>A (p.Arg1015Gln) c.5504G>A (p.Arg1835Gln) n.3154G>A n.239G>A c.5501G>A (p.Arg1834Gln) c.5609G>A (p.Arg1870Gln) c.5612G>A (p.Arg1871Gln) c.5585G>A (p.Arg1862Gln) c.5522G>A (p.Arg1841Gln) c.5393G>A (p.Arg1798Gln) c.5381G>A (p.Arg1794Gln) c.5354G>A (p.Arg1785Gln) c.5533G>A (p.Gly1845Ser) n.5938G>A n.5841G>A c.5708G>A (p.Arg1903Gln) c.5702G>A (p.Arg1901Gln) c.5699G>A (p.Arg1900Gln) c.5594G>A (p.Arg1865Gln) c.5591G>A (p.Arg1864Gln) n.5723G>A n.5638G>A n.5709G>A n.5624G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77205599G= | CA1984126955 | MYO7A | c.5618G= (p.Arg1873=) c.3445G= c.5471G= (p.Arg1824=) c.3044G= (p.Arg1015=) c.5504G= (p.Arg1835=) n.3154G= n.239G= c.5501G= (p.Arg1834=) c.5609G= (p.Arg1870=) c.5612G= (p.Arg1871=) c.5585G= (p.Arg1862=) c.5522G= (p.Arg1841=) c.5393G= (p.Arg1798=) c.5381G= (p.Arg1794=) c.5354G= (p.Arg1785=) c.5533G= (p.Gly1845=) n.5938G= n.5841G= c.5708G= (p.Arg1903=) c.5702G= (p.Arg1901=) c.5699G= (p.Arg1900=) c.5594G= (p.Arg1865=) c.5591G= (p.Arg1864=) n.5723G= n.5638G= n.5709G= n.5624G= | dbSNP |