WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77200616_77206133del | CA916084108 | MYO7A | c.4852+798_5673del c.2693+798_3500del c.4705+798_5526del c.2281+798_3099del c.4738+798_5559del n.2391+798_3209del c.4738+798_5556del c.4846+798_5664del c.4846+798_5667del c.4819+798_5640del c.4756+798_5577del c.4627+798_5448del c.4615+798_5436del c.4588+798_5409del c.4852+798_*38del n.5172+798_5993del c.4942+798_5763del c.4936+798_5757del c.4936+798_5754del c.4828+798_5649del c.4828+798_5646del n.4957+798_5778del n.4957+798_5693del n.4957+798_5764del | ClinVar |
| 11 | g.77203137G>A | CA6198654 | MYO7A | c.5246G>A (p.Arg1749Gln) c.3087G>A c.5099G>A (p.Arg1700Gln) c.2672G>A (p.Arg891Gln) c.5132G>A (p.Arg1711Gln) n.2782G>A c.5129G>A (p.Arg1710Gln) c.5237G>A (p.Arg1746Gln) c.5240G>A (p.Arg1747Gln) c.5213G>A (p.Arg1738Gln) c.5150G>A (p.Arg1717Gln) c.5021G>A (p.Arg1674Gln) c.5009G>A (p.Arg1670Gln) c.4982G>A (p.Arg1661Gln) n.5566G>A n.5568G>A c.5336G>A (p.Arg1779Gln) c.5330G>A (p.Arg1777Gln) c.5327G>A (p.Arg1776Gln) c.5222G>A (p.Arg1741Gln) c.5219G>A (p.Arg1740Gln) n.5351G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77203137G>C | CA381952232 | MYO7A | c.5246G>C (p.Arg1749Pro) c.3087G>C c.5099G>C (p.Arg1700Pro) c.2672G>C (p.Arg891Pro) c.5132G>C (p.Arg1711Pro) n.2782G>C c.5129G>C (p.Arg1710Pro) c.5237G>C (p.Arg1746Pro) c.5240G>C (p.Arg1747Pro) c.5213G>C (p.Arg1738Pro) c.5150G>C (p.Arg1717Pro) c.5021G>C (p.Arg1674Pro) c.5009G>C (p.Arg1670Pro) c.4982G>C (p.Arg1661Pro) n.5566G>C n.5568G>C c.5336G>C (p.Arg1779Pro) c.5330G>C (p.Arg1777Pro) c.5327G>C (p.Arg1776Pro) c.5222G>C (p.Arg1741Pro) c.5219G>C (p.Arg1740Pro) n.5351G>C | |
| 11 | g.77203137G= | CA1984125692 | MYO7A | c.5246G= (p.Arg1749=) c.3087G= c.5099G= (p.Arg1700=) c.2672G= (p.Arg891=) c.5132G= (p.Arg1711=) n.2782G= c.5129G= (p.Arg1710=) c.5237G= (p.Arg1746=) c.5240G= (p.Arg1747=) c.5213G= (p.Arg1738=) c.5150G= (p.Arg1717=) c.5021G= (p.Arg1674=) c.5009G= (p.Arg1670=) c.4982G= (p.Arg1661=) n.5566G= n.5568G= c.5336G= (p.Arg1779=) c.5330G= (p.Arg1777=) c.5327G= (p.Arg1776=) c.5222G= (p.Arg1741=) c.5219G= (p.Arg1740=) n.5351G= | |
| 11 | g.77203137G>T | CA381952233 | MYO7A | c.5246G>T (p.Arg1749Leu) c.3087G>T c.5099G>T (p.Arg1700Leu) c.2672G>T (p.Arg891Leu) c.5132G>T (p.Arg1711Leu) n.2782G>T c.5129G>T (p.Arg1710Leu) c.5237G>T (p.Arg1746Leu) c.5240G>T (p.Arg1747Leu) c.5213G>T (p.Arg1738Leu) c.5150G>T (p.Arg1717Leu) c.5021G>T (p.Arg1674Leu) c.5009G>T (p.Arg1670Leu) c.4982G>T (p.Arg1661Leu) n.5566G>T n.5568G>T c.5336G>T (p.Arg1779Leu) c.5330G>T (p.Arg1777Leu) c.5327G>T (p.Arg1776Leu) c.5222G>T (p.Arg1741Leu) c.5219G>T (p.Arg1740Leu) n.5351G>T | gnomAD v4 |
| 11 | g.77203138G>A | CA475796939 | MYO7A | c.5247G>A (p.Arg1749=) c.3088G>A c.5100G>A (p.Arg1700=) c.2673G>A (p.Arg891=) c.5133G>A (p.Arg1711=) n.2783G>A c.5130G>A (p.Arg1710=) c.5238G>A (p.Arg1746=) c.5241G>A (p.Arg1747=) c.5214G>A (p.Arg1738=) c.5151G>A (p.Arg1717=) c.5022G>A (p.Arg1674=) c.5010G>A (p.Arg1670=) c.4983G>A (p.Arg1661=) n.5567G>A n.5569G>A c.5337G>A (p.Arg1779=) c.5331G>A (p.Arg1777=) c.5328G>A (p.Arg1776=) c.5223G>A (p.Arg1741=) c.5220G>A (p.Arg1740=) n.5352G>A | gnomAD v4 |
| 11 | g.77203138G>C | CA475796940 | MYO7A | c.5247G>C (p.Arg1749=) c.3088G>C c.5100G>C (p.Arg1700=) c.2673G>C (p.Arg891=) c.5133G>C (p.Arg1711=) n.2783G>C c.5130G>C (p.Arg1710=) c.5238G>C (p.Arg1746=) c.5241G>C (p.Arg1747=) c.5214G>C (p.Arg1738=) c.5151G>C (p.Arg1717=) c.5022G>C (p.Arg1674=) c.5010G>C (p.Arg1670=) c.4983G>C (p.Arg1661=) n.5567G>C n.5569G>C c.5337G>C (p.Arg1779=) c.5331G>C (p.Arg1777=) c.5328G>C (p.Arg1776=) c.5223G>C (p.Arg1741=) c.5220G>C (p.Arg1740=) n.5352G>C | |
| 11 | g.77203138G>T | CA475796941 | MYO7A | c.5247G>T (p.Arg1749=) c.3088G>T c.5100G>T (p.Arg1700=) c.2673G>T (p.Arg891=) c.5133G>T (p.Arg1711=) n.2783G>T c.5130G>T (p.Arg1710=) c.5238G>T (p.Arg1746=) c.5241G>T (p.Arg1747=) c.5214G>T (p.Arg1738=) c.5151G>T (p.Arg1717=) c.5022G>T (p.Arg1674=) c.5010G>T (p.Arg1670=) c.4983G>T (p.Arg1661=) n.5567G>T n.5569G>T c.5337G>T (p.Arg1779=) c.5331G>T (p.Arg1777=) c.5328G>T (p.Arg1776=) c.5223G>T (p.Arg1741=) c.5220G>T (p.Arg1740=) n.5352G>T | ClinVar gnomAD v4 |
| 11 | g.77203139G>A | CA381952235 | MYO7A | c.5248G>A (p.Glu1750Lys) c.3089G>A c.5101G>A (p.Glu1701Lys) c.2674G>A (p.Glu892Lys) c.5134G>A (p.Glu1712Lys) n.2784G>A c.5131G>A (p.Glu1711Lys) c.5239G>A (p.Glu1747Lys) c.5242G>A (p.Glu1748Lys) c.5215G>A (p.Glu1739Lys) c.5152G>A (p.Glu1718Lys) c.5023G>A (p.Glu1675Lys) c.5011G>A (p.Glu1671Lys) c.4984G>A (p.Glu1662Lys) n.5568G>A n.5570G>A c.5338G>A (p.Glu1780Lys) c.5332G>A (p.Glu1778Lys) c.5329G>A (p.Glu1777Lys) c.5224G>A (p.Glu1742Lys) c.5221G>A (p.Glu1741Lys) n.5353G>A | gnomAD v4 |
| 11 | g.77203139G>C | CA381952237 | MYO7A | c.5248G>C (p.Glu1750Gln) c.3089G>C c.5101G>C (p.Glu1701Gln) c.2674G>C (p.Glu892Gln) c.5134G>C (p.Glu1712Gln) n.2784G>C c.5131G>C (p.Glu1711Gln) c.5239G>C (p.Glu1747Gln) c.5242G>C (p.Glu1748Gln) c.5215G>C (p.Glu1739Gln) c.5152G>C (p.Glu1718Gln) c.5023G>C (p.Glu1675Gln) c.5011G>C (p.Glu1671Gln) c.4984G>C (p.Glu1662Gln) n.5568G>C n.5570G>C c.5338G>C (p.Glu1780Gln) c.5332G>C (p.Glu1778Gln) c.5329G>C (p.Glu1777Gln) c.5224G>C (p.Glu1742Gln) c.5221G>C (p.Glu1741Gln) n.5353G>C | |
| 11 | g.77203139G>T | CA381952238 | MYO7A | c.5248G>T (p.Glu1750Ter) c.3089G>T c.5101G>T (p.Glu1701Ter) c.2674G>T (p.Glu892Ter) c.5134G>T (p.Glu1712Ter) n.2784G>T c.5131G>T (p.Glu1711Ter) c.5239G>T (p.Glu1747Ter) c.5242G>T (p.Glu1748Ter) c.5215G>T (p.Glu1739Ter) c.5152G>T (p.Glu1718Ter) c.5023G>T (p.Glu1675Ter) c.5011G>T (p.Glu1671Ter) c.4984G>T (p.Glu1662Ter) n.5568G>T n.5570G>T c.5338G>T (p.Glu1780Ter) c.5332G>T (p.Glu1778Ter) c.5329G>T (p.Glu1777Ter) c.5224G>T (p.Glu1742Ter) c.5221G>T (p.Glu1741Ter) n.5353G>T | gnomAD v4 |
| 11 | g.77203140A>C | CA381952240 | MYO7A | c.5249A>C (p.Glu1750Ala) c.3090A>C c.5102A>C (p.Glu1701Ala) c.2675A>C (p.Glu892Ala) c.5135A>C (p.Glu1712Ala) n.2785A>C c.5132A>C (p.Glu1711Ala) c.5240A>C (p.Glu1747Ala) c.5243A>C (p.Glu1748Ala) c.5216A>C (p.Glu1739Ala) c.5153A>C (p.Glu1718Ala) c.5024A>C (p.Glu1675Ala) c.5012A>C (p.Glu1671Ala) c.4985A>C (p.Glu1662Ala) n.5569A>C n.5571A>C c.5339A>C (p.Glu1780Ala) c.5333A>C (p.Glu1778Ala) c.5330A>C (p.Glu1777Ala) c.5225A>C (p.Glu1742Ala) c.5222A>C (p.Glu1741Ala) n.5354A>C | |
| 11 | g.77203140A>G | CA381952241 | MYO7A | c.5249A>G (p.Glu1750Gly) c.3090A>G c.5102A>G (p.Glu1701Gly) c.2675A>G (p.Glu892Gly) c.5135A>G (p.Glu1712Gly) n.2785A>G c.5132A>G (p.Glu1711Gly) c.5240A>G (p.Glu1747Gly) c.5243A>G (p.Glu1748Gly) c.5216A>G (p.Glu1739Gly) c.5153A>G (p.Glu1718Gly) c.5024A>G (p.Glu1675Gly) c.5012A>G (p.Glu1671Gly) c.4985A>G (p.Glu1662Gly) n.5569A>G n.5571A>G c.5339A>G (p.Glu1780Gly) c.5333A>G (p.Glu1778Gly) c.5330A>G (p.Glu1777Gly) c.5225A>G (p.Glu1742Gly) c.5222A>G (p.Glu1741Gly) n.5354A>G | |
| 11 | g.77203140A>T | CA381952243 | MYO7A | c.5249A>T (p.Glu1750Val) c.3090A>T c.5102A>T (p.Glu1701Val) c.2675A>T (p.Glu892Val) c.5135A>T (p.Glu1712Val) n.2785A>T c.5132A>T (p.Glu1711Val) c.5240A>T (p.Glu1747Val) c.5243A>T (p.Glu1748Val) c.5216A>T (p.Glu1739Val) c.5153A>T (p.Glu1718Val) c.5024A>T (p.Glu1675Val) c.5012A>T (p.Glu1671Val) c.4985A>T (p.Glu1662Val) n.5569A>T n.5571A>T c.5339A>T (p.Glu1780Val) c.5333A>T (p.Glu1778Val) c.5330A>T (p.Glu1777Val) c.5225A>T (p.Glu1742Val) c.5222A>T (p.Glu1741Val) n.5354A>T | |
| 11 | g.77203141A>C | CA381952245 | MYO7A | c.5250A>C (p.Glu1750Asp) c.3091A>C c.5103A>C (p.Glu1701Asp) c.2676A>C (p.Glu892Asp) c.5136A>C (p.Glu1712Asp) n.2786A>C c.5133A>C (p.Glu1711Asp) c.5241A>C (p.Glu1747Asp) c.5244A>C (p.Glu1748Asp) c.5217A>C (p.Glu1739Asp) c.5154A>C (p.Glu1718Asp) c.5025A>C (p.Glu1675Asp) c.5013A>C (p.Glu1671Asp) c.4986A>C (p.Glu1662Asp) n.5570A>C n.5572A>C c.5340A>C (p.Glu1780Asp) c.5334A>C (p.Glu1778Asp) c.5331A>C (p.Glu1777Asp) c.5226A>C (p.Glu1742Asp) c.5223A>C (p.Glu1741Asp) n.5355A>C | |
| 11 | g.77203141A>G | CA475796942 | MYO7A | c.5250A>G (p.Glu1750=) c.3091A>G c.5103A>G (p.Glu1701=) c.2676A>G (p.Glu892=) c.5136A>G (p.Glu1712=) n.2786A>G c.5133A>G (p.Glu1711=) c.5241A>G (p.Glu1747=) c.5244A>G (p.Glu1748=) c.5217A>G (p.Glu1739=) c.5154A>G (p.Glu1718=) c.5025A>G (p.Glu1675=) c.5013A>G (p.Glu1671=) c.4986A>G (p.Glu1662=) n.5570A>G n.5572A>G c.5340A>G (p.Glu1780=) c.5334A>G (p.Glu1778=) c.5331A>G (p.Glu1777=) c.5226A>G (p.Glu1742=) c.5223A>G (p.Glu1741=) n.5355A>G | |
| 11 | g.77203141A>T | CA381952247 | MYO7A | c.5250A>T (p.Glu1750Asp) c.3091A>T c.5103A>T (p.Glu1701Asp) c.2676A>T (p.Glu892Asp) c.5136A>T (p.Glu1712Asp) n.2786A>T c.5133A>T (p.Glu1711Asp) c.5241A>T (p.Glu1747Asp) c.5244A>T (p.Glu1748Asp) c.5217A>T (p.Glu1739Asp) c.5154A>T (p.Glu1718Asp) c.5025A>T (p.Glu1675Asp) c.5013A>T (p.Glu1671Asp) c.4986A>T (p.Glu1662Asp) n.5570A>T n.5572A>T c.5340A>T (p.Glu1780Asp) c.5334A>T (p.Glu1778Asp) c.5331A>T (p.Glu1777Asp) c.5226A>T (p.Glu1742Asp) c.5223A>T (p.Glu1741Asp) n.5355A>T | |
| 11 | g.77203142C>A | CA381952249 | MYO7A | c.5251C>A (p.Pro1751Thr) c.3092C>A c.5104C>A (p.Pro1702Thr) c.2677C>A (p.Pro893Thr) c.5137C>A (p.Pro1713Thr) n.2787C>A c.5134C>A (p.Pro1712Thr) c.5242C>A (p.Pro1748Thr) c.5245C>A (p.Pro1749Thr) c.5218C>A (p.Pro1740Thr) c.5155C>A (p.Pro1719Thr) c.5026C>A (p.Pro1676Thr) c.5014C>A (p.Pro1672Thr) c.4987C>A (p.Pro1663Thr) n.5571C>A n.5573C>A c.5341C>A (p.Pro1781Thr) c.5335C>A (p.Pro1779Thr) c.5332C>A (p.Pro1778Thr) c.5227C>A (p.Pro1743Thr) c.5224C>A (p.Pro1742Thr) n.5356C>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.77203142C= | CA1984125693 | MYO7A | c.5251C= (p.Pro1751=) c.3092C= c.5104C= (p.Pro1702=) c.2677C= (p.Pro893=) c.5137C= (p.Pro1713=) n.2787C= c.5134C= (p.Pro1712=) c.5242C= (p.Pro1748=) c.5245C= (p.Pro1749=) c.5218C= (p.Pro1740=) c.5155C= (p.Pro1719=) c.5026C= (p.Pro1676=) c.5014C= (p.Pro1672=) c.4987C= (p.Pro1663=) n.5571C= n.5573C= c.5341C= (p.Pro1781=) c.5335C= (p.Pro1779=) c.5332C= (p.Pro1778=) c.5227C= (p.Pro1743=) c.5224C= (p.Pro1742=) n.5356C= | |
| 11 | g.77203142C>G | CA381952250 | MYO7A | c.5251C>G (p.Pro1751Ala) c.3092C>G c.5104C>G (p.Pro1702Ala) c.2677C>G (p.Pro893Ala) c.5137C>G (p.Pro1713Ala) n.2787C>G c.5134C>G (p.Pro1712Ala) c.5242C>G (p.Pro1748Ala) c.5245C>G (p.Pro1749Ala) c.5218C>G (p.Pro1740Ala) c.5155C>G (p.Pro1719Ala) c.5026C>G (p.Pro1676Ala) c.5014C>G (p.Pro1672Ala) c.4987C>G (p.Pro1663Ala) n.5571C>G n.5573C>G c.5341C>G (p.Pro1781Ala) c.5335C>G (p.Pro1779Ala) c.5332C>G (p.Pro1778Ala) c.5227C>G (p.Pro1743Ala) c.5224C>G (p.Pro1742Ala) n.5356C>G | |
| 11 | g.77203142C>T | CA381952252 | MYO7A | c.5251C>T (p.Pro1751Ser) c.3092C>T c.5104C>T (p.Pro1702Ser) c.2677C>T (p.Pro893Ser) c.5137C>T (p.Pro1713Ser) n.2787C>T c.5134C>T (p.Pro1712Ser) c.5242C>T (p.Pro1748Ser) c.5245C>T (p.Pro1749Ser) c.5218C>T (p.Pro1740Ser) c.5155C>T (p.Pro1719Ser) c.5026C>T (p.Pro1676Ser) c.5014C>T (p.Pro1672Ser) c.4987C>T (p.Pro1663Ser) n.5571C>T n.5573C>T c.5341C>T (p.Pro1781Ser) c.5335C>T (p.Pro1779Ser) c.5332C>T (p.Pro1778Ser) c.5227C>T (p.Pro1743Ser) c.5224C>T (p.Pro1742Ser) n.5356C>T | dbSNP gnomAD v4 |
| 11 | g.77203143C>A | CA381952253 | MYO7A | c.5252C>A (p.Pro1751Gln) c.3093C>A c.5105C>A (p.Pro1702Gln) c.2678C>A (p.Pro893Gln) c.5138C>A (p.Pro1713Gln) n.2788C>A c.5135C>A (p.Pro1712Gln) c.5243C>A (p.Pro1748Gln) c.5246C>A (p.Pro1749Gln) c.5219C>A (p.Pro1740Gln) c.5156C>A (p.Pro1719Gln) c.5027C>A (p.Pro1676Gln) c.5015C>A (p.Pro1672Gln) c.4988C>A (p.Pro1663Gln) n.5572C>A n.5574C>A c.5342C>A (p.Pro1781Gln) c.5336C>A (p.Pro1779Gln) c.5333C>A (p.Pro1778Gln) c.5228C>A (p.Pro1743Gln) c.5225C>A (p.Pro1742Gln) n.5357C>A | gnomAD v4 |
| 11 | g.77203143C= | CA1984125694 | MYO7A | c.5252C= (p.Pro1751=) c.3093C= c.5105C= (p.Pro1702=) c.2678C= (p.Pro893=) c.5138C= (p.Pro1713=) n.2788C= c.5135C= (p.Pro1712=) c.5243C= (p.Pro1748=) c.5246C= (p.Pro1749=) c.5219C= (p.Pro1740=) c.5156C= (p.Pro1719=) c.5027C= (p.Pro1676=) c.5015C= (p.Pro1672=) c.4988C= (p.Pro1663=) n.5572C= n.5574C= c.5342C= (p.Pro1781=) c.5336C= (p.Pro1779=) c.5333C= (p.Pro1778=) c.5228C= (p.Pro1743=) c.5225C= (p.Pro1742=) n.5357C= | |
| 11 | g.77203143C>G | CA381952254 | MYO7A | c.5252C>G (p.Pro1751Arg) c.3093C>G c.5105C>G (p.Pro1702Arg) c.2678C>G (p.Pro893Arg) c.5138C>G (p.Pro1713Arg) n.2788C>G c.5135C>G (p.Pro1712Arg) c.5243C>G (p.Pro1748Arg) c.5246C>G (p.Pro1749Arg) c.5219C>G (p.Pro1740Arg) c.5156C>G (p.Pro1719Arg) c.5027C>G (p.Pro1676Arg) c.5015C>G (p.Pro1672Arg) c.4988C>G (p.Pro1663Arg) n.5572C>G n.5574C>G c.5342C>G (p.Pro1781Arg) c.5336C>G (p.Pro1779Arg) c.5333C>G (p.Pro1778Arg) c.5228C>G (p.Pro1743Arg) c.5225C>G (p.Pro1742Arg) n.5357C>G | |
| 11 | g.77203143C>T | CA6198655 | MYO7A | c.5252C>T (p.Pro1751Leu) c.3093C>T c.5105C>T (p.Pro1702Leu) c.2678C>T (p.Pro893Leu) c.5138C>T (p.Pro1713Leu) n.2788C>T c.5135C>T (p.Pro1712Leu) c.5243C>T (p.Pro1748Leu) c.5246C>T (p.Pro1749Leu) c.5219C>T (p.Pro1740Leu) c.5156C>T (p.Pro1719Leu) c.5027C>T (p.Pro1676Leu) c.5015C>T (p.Pro1672Leu) c.4988C>T (p.Pro1663Leu) n.5572C>T n.5574C>T c.5342C>T (p.Pro1781Leu) c.5336C>T (p.Pro1779Leu) c.5333C>T (p.Pro1778Leu) c.5228C>T (p.Pro1743Leu) c.5225C>T (p.Pro1742Leu) n.5357C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77203144G>A | CA6198656 | MYO7A | c.5253G>A (p.Pro1751=) c.3094G>A c.5106G>A (p.Pro1702=) c.2679G>A (p.Pro893=) c.5139G>A (p.Pro1713=) n.2789G>A c.5136G>A (p.Pro1712=) c.5244G>A (p.Pro1748=) c.5247G>A (p.Pro1749=) c.5220G>A (p.Pro1740=) c.5157G>A (p.Pro1719=) c.5028G>A (p.Pro1676=) c.5016G>A (p.Pro1672=) c.4989G>A (p.Pro1663=) n.5573G>A n.5575G>A c.5343G>A (p.Pro1781=) c.5337G>A (p.Pro1779=) c.5334G>A (p.Pro1778=) c.5229G>A (p.Pro1743=) c.5226G>A (p.Pro1742=) n.5358G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77203144G>C | CA475796944 | MYO7A | c.5253G>C (p.Pro1751=) c.3094G>C c.5106G>C (p.Pro1702=) c.2679G>C (p.Pro893=) c.5139G>C (p.Pro1713=) n.2789G>C c.5136G>C (p.Pro1712=) c.5244G>C (p.Pro1748=) c.5247G>C (p.Pro1749=) c.5220G>C (p.Pro1740=) c.5157G>C (p.Pro1719=) c.5028G>C (p.Pro1676=) c.5016G>C (p.Pro1672=) c.4989G>C (p.Pro1663=) n.5573G>C n.5575G>C c.5343G>C (p.Pro1781=) c.5337G>C (p.Pro1779=) c.5334G>C (p.Pro1778=) c.5229G>C (p.Pro1743=) c.5226G>C (p.Pro1742=) n.5358G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77203144G= | CA1984125695 | MYO7A | c.5253G= (p.Pro1751=) c.3094G= c.5106G= (p.Pro1702=) c.2679G= (p.Pro893=) c.5139G= (p.Pro1713=) n.2789G= c.5136G= (p.Pro1712=) c.5244G= (p.Pro1748=) c.5247G= (p.Pro1749=) c.5220G= (p.Pro1740=) c.5157G= (p.Pro1719=) c.5028G= (p.Pro1676=) c.5016G= (p.Pro1672=) c.4989G= (p.Pro1663=) n.5573G= n.5575G= c.5343G= (p.Pro1781=) c.5337G= (p.Pro1779=) c.5334G= (p.Pro1778=) c.5229G= (p.Pro1743=) c.5226G= (p.Pro1742=) n.5358G= | |
| 11 | g.77203144G>T | CA182426 | MYO7A | c.5253G>T (p.Pro1751=) c.3094G>T c.5106G>T (p.Pro1702=) c.2679G>T (p.Pro893=) c.5139G>T (p.Pro1713=) n.2789G>T c.5136G>T (p.Pro1712=) c.5244G>T (p.Pro1748=) c.5247G>T (p.Pro1749=) c.5220G>T (p.Pro1740=) c.5157G>T (p.Pro1719=) c.5028G>T (p.Pro1676=) c.5016G>T (p.Pro1672=) c.4989G>T (p.Pro1663=) n.5573G>T n.5575G>T c.5343G>T (p.Pro1781=) c.5337G>T (p.Pro1779=) c.5334G>T (p.Pro1778=) c.5229G>T (p.Pro1743=) c.5226G>T (p.Pro1742=) n.5358G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77203145C>A | CA381952257 | MYO7A | c.5254C>A (p.Leu1752Ile) c.3095C>A c.5107C>A (p.Leu1703Ile) c.2680C>A (p.Leu894Ile) c.5140C>A (p.Leu1714Ile) n.2790C>A c.5137C>A (p.Leu1713Ile) c.5245C>A (p.Leu1749Ile) c.5248C>A (p.Leu1750Ile) c.5221C>A (p.Leu1741Ile) c.5158C>A (p.Leu1720Ile) c.5029C>A (p.Leu1677Ile) c.5017C>A (p.Leu1673Ile) c.4990C>A (p.Leu1664Ile) n.5574C>A n.5576C>A c.5344C>A (p.Leu1782Ile) c.5338C>A (p.Leu1780Ile) c.5335C>A (p.Leu1779Ile) c.5230C>A (p.Leu1744Ile) c.5227C>A (p.Leu1743Ile) n.5359C>A | |
| 11 | g.77203145C= | CA1984125696 | MYO7A | c.5254C= (p.Leu1752=) c.3095C= c.5107C= (p.Leu1703=) c.2680C= (p.Leu894=) c.5140C= (p.Leu1714=) n.2790C= c.5137C= (p.Leu1713=) c.5245C= (p.Leu1749=) c.5248C= (p.Leu1750=) c.5221C= (p.Leu1741=) c.5158C= (p.Leu1720=) c.5029C= (p.Leu1677=) c.5017C= (p.Leu1673=) c.4990C= (p.Leu1664=) n.5574C= n.5576C= c.5344C= (p.Leu1782=) c.5338C= (p.Leu1780=) c.5335C= (p.Leu1779=) c.5230C= (p.Leu1744=) c.5227C= (p.Leu1743=) n.5359C= | |
| 11 | g.77203145C>G | CA381952265 | MYO7A | c.5254C>G (p.Leu1752Val) c.3095C>G c.5107C>G (p.Leu1703Val) c.2680C>G (p.Leu894Val) c.5140C>G (p.Leu1714Val) n.2790C>G c.5137C>G (p.Leu1713Val) c.5245C>G (p.Leu1749Val) c.5248C>G (p.Leu1750Val) c.5221C>G (p.Leu1741Val) c.5158C>G (p.Leu1720Val) c.5029C>G (p.Leu1677Val) c.5017C>G (p.Leu1673Val) c.4990C>G (p.Leu1664Val) n.5574C>G n.5576C>G c.5344C>G (p.Leu1782Val) c.5338C>G (p.Leu1780Val) c.5335C>G (p.Leu1779Val) c.5230C>G (p.Leu1744Val) c.5227C>G (p.Leu1743Val) n.5359C>G | |
| 11 | g.77203145C>T | CA6198657 | MYO7A | c.5254C>T (p.Leu1752Phe) c.3095C>T c.5107C>T (p.Leu1703Phe) c.2680C>T (p.Leu894Phe) c.5140C>T (p.Leu1714Phe) n.2790C>T c.5137C>T (p.Leu1713Phe) c.5245C>T (p.Leu1749Phe) c.5248C>T (p.Leu1750Phe) c.5221C>T (p.Leu1741Phe) c.5158C>T (p.Leu1720Phe) c.5029C>T (p.Leu1677Phe) c.5017C>T (p.Leu1673Phe) c.4990C>T (p.Leu1664Phe) n.5574C>T n.5576C>T c.5344C>T (p.Leu1782Phe) c.5338C>T (p.Leu1780Phe) c.5335C>T (p.Leu1779Phe) c.5230C>T (p.Leu1744Phe) c.5227C>T (p.Leu1743Phe) n.5359C>T | dbSNP ExAC gnomAD v2 |
| 11 | g.77203146T>A | CA381952268 | MYO7A | c.5255T>A (p.Leu1752His) c.3096T>A c.5108T>A (p.Leu1703His) c.2681T>A (p.Leu894His) c.5141T>A (p.Leu1714His) n.2791T>A c.5138T>A (p.Leu1713His) c.5246T>A (p.Leu1749His) c.5249T>A (p.Leu1750His) c.5222T>A (p.Leu1741His) c.5159T>A (p.Leu1720His) c.5030T>A (p.Leu1677His) c.5018T>A (p.Leu1673His) c.4991T>A (p.Leu1664His) n.5575T>A n.5577T>A c.5345T>A (p.Leu1782His) c.5339T>A (p.Leu1780His) c.5336T>A (p.Leu1779His) c.5231T>A (p.Leu1744His) c.5228T>A (p.Leu1743His) n.5360T>A | |
| 11 | g.77203146T>C | CA381952272 | MYO7A | c.5255T>C (p.Leu1752Pro) c.3096T>C c.5108T>C (p.Leu1703Pro) c.2681T>C (p.Leu894Pro) c.5141T>C (p.Leu1714Pro) n.2791T>C c.5138T>C (p.Leu1713Pro) c.5246T>C (p.Leu1749Pro) c.5249T>C (p.Leu1750Pro) c.5222T>C (p.Leu1741Pro) c.5159T>C (p.Leu1720Pro) c.5030T>C (p.Leu1677Pro) c.5018T>C (p.Leu1673Pro) c.4991T>C (p.Leu1664Pro) n.5575T>C n.5577T>C c.5345T>C (p.Leu1782Pro) c.5339T>C (p.Leu1780Pro) c.5336T>C (p.Leu1779Pro) c.5231T>C (p.Leu1744Pro) c.5228T>C (p.Leu1743Pro) n.5360T>C | |
| 11 | g.77203146T>G | CA381952270 | MYO7A | c.5255T>G (p.Leu1752Arg) c.3096T>G c.5108T>G (p.Leu1703Arg) c.2681T>G (p.Leu894Arg) c.5141T>G (p.Leu1714Arg) n.2791T>G c.5138T>G (p.Leu1713Arg) c.5246T>G (p.Leu1749Arg) c.5249T>G (p.Leu1750Arg) c.5222T>G (p.Leu1741Arg) c.5159T>G (p.Leu1720Arg) c.5030T>G (p.Leu1677Arg) c.5018T>G (p.Leu1673Arg) c.4991T>G (p.Leu1664Arg) n.5575T>G n.5577T>G c.5345T>G (p.Leu1782Arg) c.5339T>G (p.Leu1780Arg) c.5336T>G (p.Leu1779Arg) c.5231T>G (p.Leu1744Arg) c.5228T>G (p.Leu1743Arg) n.5360T>G | |
| 11 | g.77203147C>A | CA475796946 | MYO7A | c.5256C>A (p.Leu1752=) c.3097C>A c.5109C>A (p.Leu1703=) c.2682C>A (p.Leu894=) c.5142C>A (p.Leu1714=) n.2792C>A c.5139C>A (p.Leu1713=) c.5247C>A (p.Leu1749=) c.5250C>A (p.Leu1750=) c.5223C>A (p.Leu1741=) c.5160C>A (p.Leu1720=) c.5031C>A (p.Leu1677=) c.5019C>A (p.Leu1673=) c.4992C>A (p.Leu1664=) n.5576C>A n.5578C>A c.5346C>A (p.Leu1782=) c.5340C>A (p.Leu1780=) c.5337C>A (p.Leu1779=) c.5232C>A (p.Leu1744=) c.5229C>A (p.Leu1743=) n.5361C>A | gnomAD v4 |
| 11 | g.77203147C= | CA1984125697 | MYO7A | c.5256C= (p.Leu1752=) c.3097C= c.5109C= (p.Leu1703=) c.2682C= (p.Leu894=) c.5142C= (p.Leu1714=) n.2792C= c.5139C= (p.Leu1713=) c.5247C= (p.Leu1749=) c.5250C= (p.Leu1750=) c.5223C= (p.Leu1741=) c.5160C= (p.Leu1720=) c.5031C= (p.Leu1677=) c.5019C= (p.Leu1673=) c.4992C= (p.Leu1664=) n.5576C= n.5578C= c.5346C= (p.Leu1782=) c.5340C= (p.Leu1780=) c.5337C= (p.Leu1779=) c.5232C= (p.Leu1744=) c.5229C= (p.Leu1743=) n.5361C= | |
| 11 | g.77203147C>G | CA6198658 | MYO7A | c.5256C>G (p.Leu1752=) c.3097C>G c.5109C>G (p.Leu1703=) c.2682C>G (p.Leu894=) c.5142C>G (p.Leu1714=) n.2792C>G c.5139C>G (p.Leu1713=) c.5247C>G (p.Leu1749=) c.5250C>G (p.Leu1750=) c.5223C>G (p.Leu1741=) c.5160C>G (p.Leu1720=) c.5031C>G (p.Leu1677=) c.5019C>G (p.Leu1673=) c.4992C>G (p.Leu1664=) n.5576C>G n.5578C>G c.5346C>G (p.Leu1782=) c.5340C>G (p.Leu1780=) c.5337C>G (p.Leu1779=) c.5232C>G (p.Leu1744=) c.5229C>G (p.Leu1743=) n.5361C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.77203147C>T | CA475796948 | MYO7A | c.5256C>T (p.Leu1752=) c.3097C>T c.5109C>T (p.Leu1703=) c.2682C>T (p.Leu894=) c.5142C>T (p.Leu1714=) n.2792C>T c.5139C>T (p.Leu1713=) c.5247C>T (p.Leu1749=) c.5250C>T (p.Leu1750=) c.5223C>T (p.Leu1741=) c.5160C>T (p.Leu1720=) c.5031C>T (p.Leu1677=) c.5019C>T (p.Leu1673=) c.4992C>T (p.Leu1664=) n.5576C>T n.5578C>T c.5346C>T (p.Leu1782=) c.5340C>T (p.Leu1780=) c.5337C>T (p.Leu1779=) c.5232C>T (p.Leu1744=) c.5229C>T (p.Leu1743=) n.5361C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77203148A>C | CA381952274 | MYO7A | c.5257A>C (p.Lys1753Gln) c.3098A>C c.5110A>C (p.Lys1704Gln) c.2683A>C (p.Lys895Gln) c.5143A>C (p.Lys1715Gln) n.2793A>C c.5140A>C (p.Lys1714Gln) c.5248A>C (p.Lys1750Gln) c.5251A>C (p.Lys1751Gln) c.5224A>C (p.Lys1742Gln) c.5161A>C (p.Lys1721Gln) c.5032A>C (p.Lys1678Gln) c.5020A>C (p.Lys1674Gln) c.4993A>C (p.Lys1665Gln) n.5577A>C n.5579A>C c.5347A>C (p.Lys1783Gln) c.5341A>C (p.Lys1781Gln) c.5338A>C (p.Lys1780Gln) c.5233A>C (p.Lys1745Gln) c.5230A>C (p.Lys1744Gln) n.5362A>C | |
| 11 | g.77203148A>G | CA381952276 | MYO7A | c.5257A>G (p.Lys1753Glu) c.3098A>G c.5110A>G (p.Lys1704Glu) c.2683A>G (p.Lys895Glu) c.5143A>G (p.Lys1715Glu) n.2793A>G c.5140A>G (p.Lys1714Glu) c.5248A>G (p.Lys1750Glu) c.5251A>G (p.Lys1751Glu) c.5224A>G (p.Lys1742Glu) c.5161A>G (p.Lys1721Glu) c.5032A>G (p.Lys1678Glu) c.5020A>G (p.Lys1674Glu) c.4993A>G (p.Lys1665Glu) n.5577A>G n.5579A>G c.5347A>G (p.Lys1783Glu) c.5341A>G (p.Lys1781Glu) c.5338A>G (p.Lys1780Glu) c.5233A>G (p.Lys1745Glu) c.5230A>G (p.Lys1744Glu) n.5362A>G | |
| 11 | g.77203148A>T | CA381952277 | MYO7A | c.5257A>T (p.Lys1753Ter) c.3098A>T c.5110A>T (p.Lys1704Ter) c.2683A>T (p.Lys895Ter) c.5143A>T (p.Lys1715Ter) n.2793A>T c.5140A>T (p.Lys1714Ter) c.5248A>T (p.Lys1750Ter) c.5251A>T (p.Lys1751Ter) c.5224A>T (p.Lys1742Ter) c.5161A>T (p.Lys1721Ter) c.5032A>T (p.Lys1678Ter) c.5020A>T (p.Lys1674Ter) c.4993A>T (p.Lys1665Ter) n.5577A>T n.5579A>T c.5347A>T (p.Lys1783Ter) c.5341A>T (p.Lys1781Ter) c.5338A>T (p.Lys1780Ter) c.5233A>T (p.Lys1745Ter) c.5230A>T (p.Lys1744Ter) n.5362A>T | |
| 11 | g.77203149A>C | CA381952279 | MYO7A | c.5258A>C (p.Lys1753Thr) c.3099A>C c.5111A>C (p.Lys1704Thr) c.2684A>C (p.Lys895Thr) c.5144A>C (p.Lys1715Thr) n.2794A>C c.5141A>C (p.Lys1714Thr) c.5249A>C (p.Lys1750Thr) c.5252A>C (p.Lys1751Thr) c.5225A>C (p.Lys1742Thr) c.5162A>C (p.Lys1721Thr) c.5033A>C (p.Lys1678Thr) c.5021A>C (p.Lys1674Thr) c.4994A>C (p.Lys1665Thr) n.5578A>C n.5580A>C c.5348A>C (p.Lys1783Thr) c.5342A>C (p.Lys1781Thr) c.5339A>C (p.Lys1780Thr) c.5234A>C (p.Lys1745Thr) c.5231A>C (p.Lys1744Thr) n.5363A>C | |
| 11 | g.77203149A>G | CA381952281 | MYO7A | c.5258A>G (p.Lys1753Arg) c.3099A>G c.5111A>G (p.Lys1704Arg) c.2684A>G (p.Lys895Arg) c.5144A>G (p.Lys1715Arg) n.2794A>G c.5141A>G (p.Lys1714Arg) c.5249A>G (p.Lys1750Arg) c.5252A>G (p.Lys1751Arg) c.5225A>G (p.Lys1742Arg) c.5162A>G (p.Lys1721Arg) c.5033A>G (p.Lys1678Arg) c.5021A>G (p.Lys1674Arg) c.4994A>G (p.Lys1665Arg) n.5578A>G n.5580A>G c.5348A>G (p.Lys1783Arg) c.5342A>G (p.Lys1781Arg) c.5339A>G (p.Lys1780Arg) c.5234A>G (p.Lys1745Arg) c.5231A>G (p.Lys1744Arg) n.5363A>G | gnomAD v4 |
| 11 | g.77203149A>T | CA381952282 | MYO7A | c.5258A>T (p.Lys1753Met) c.3099A>T c.5111A>T (p.Lys1704Met) c.2684A>T (p.Lys895Met) c.5144A>T (p.Lys1715Met) n.2794A>T c.5141A>T (p.Lys1714Met) c.5249A>T (p.Lys1750Met) c.5252A>T (p.Lys1751Met) c.5225A>T (p.Lys1742Met) c.5162A>T (p.Lys1721Met) c.5033A>T (p.Lys1678Met) c.5021A>T (p.Lys1674Met) c.4994A>T (p.Lys1665Met) n.5578A>T n.5580A>T c.5348A>T (p.Lys1783Met) c.5342A>T (p.Lys1781Met) c.5339A>T (p.Lys1780Met) c.5234A>T (p.Lys1745Met) c.5231A>T (p.Lys1744Met) n.5363A>T | |
| 11 | g.77203149_77203150del | CA912973136 | MYO7A | c.5258_5259del (p.Lys1753ThrfsTer11) c.3099_3100del c.5111_5112del (p.Lys1704ThrfsTer11) c.2684_2685del (p.Lys895ThrfsTer11) c.5144_5145del (p.Lys1715ThrfsTer11) n.2794_2795del c.5141_5142del (p.Lys1714ThrfsTer11) c.5249_5250del (p.Lys1750ThrfsTer11) c.5252_5253del (p.Lys1751ThrfsTer11) c.5225_5226del (p.Lys1742ThrfsTer11) c.5162_5163del (p.Lys1721ThrfsTer11) c.5033_5034del (p.Lys1678ThrfsTer11) c.5021_5022del (p.Lys1674ThrfsTer11) c.4994_4995del (p.Lys1665ThrfsTer11) n.5578_5579del n.5580_5581del c.5348_5349del (p.Lys1783ThrfsTer11) c.5342_5343del (p.Lys1781ThrfsTer11) c.5339_5340del (p.Lys1780ThrfsTer11) c.5234_5235del (p.Lys1745ThrfsTer11) c.5231_5232del (p.Lys1744ThrfsTer11) n.5363_5364del | |
| 11 | g.77203149_77203150delinsAG | CA1984125698 | MYO7A | c.5258_5259delinsAG (p.Lys1753=) c.3099_3100delinsAG c.5111_5112delinsAG (p.Lys1704=) c.2684_2685delinsAG (p.Lys895=) c.5144_5145delinsAG (p.Lys1715=) n.2794_2795delinsAG c.5141_5142delinsAG (p.Lys1714=) c.5249_5250delinsAG (p.Lys1750=) c.5252_5253delinsAG (p.Lys1751=) c.5225_5226delinsAG (p.Lys1742=) c.5162_5163delinsAG (p.Lys1721=) c.5033_5034delinsAG (p.Lys1678=) c.5021_5022delinsAG (p.Lys1674=) c.4994_4995delinsAG (p.Lys1665=) n.5578_5579delinsAG n.5580_5581delinsAG c.5348_5349delinsAG (p.Lys1783=) c.5342_5343delinsAG (p.Lys1781=) c.5339_5340delinsAG (p.Lys1780=) c.5234_5235delinsAG (p.Lys1745=) c.5231_5232delinsAG (p.Lys1744=) n.5363_5364delinsAG | |
| 11 | g.77203150del | CA658822326 | MYO7A | c.5259del (p.Lys1753AsnfsTer?) c.3100del c.5112del (p.Lys1704AsnfsTer?) c.2685del (p.Lys895AsnfsTer?) c.5145del (p.Lys1715AsnfsTer?) n.2795del c.5142del (p.Lys1714AsnfsTer?) c.5250del (p.Lys1750AsnfsTer?) c.5253del (p.Lys1751AsnfsTer?) c.5226del (p.Lys1742AsnfsTer?) c.5163del (p.Lys1721AsnfsTer?) c.5034del (p.Lys1678AsnfsTer?) c.5022del (p.Lys1674AsnfsTer?) c.4995del (p.Lys1665AsnfsTer?) n.5579del n.5581del c.5349del (p.Lys1783AsnfsTer?) c.5343del (p.Lys1781AsnfsTer?) c.5340del (p.Lys1780AsnfsTer?) c.5235del (p.Lys1745AsnfsTer?) c.5232del (p.Lys1744AsnfsTer?) n.5364del | ClinVar dbSNP gnomAD v4 |
| 11 | g.77203150G>A | CA132379 | MYO7A | c.5259G>A (p.Lys1753=) c.3100G>A c.5112G>A (p.Lys1704=) c.2685G>A (p.Lys895=) c.5145G>A (p.Lys1715=) n.2795G>A c.5142G>A (p.Lys1714=) c.5250G>A (p.Lys1750=) c.5253G>A (p.Lys1751=) c.5226G>A (p.Lys1742=) c.5163G>A (p.Lys1721=) c.5034G>A (p.Lys1678=) c.5022G>A (p.Lys1674=) c.4995G>A (p.Lys1665=) n.5579G>A n.5581G>A c.5349G>A (p.Lys1783=) c.5343G>A (p.Lys1781=) c.5340G>A (p.Lys1780=) c.5235G>A (p.Lys1745=) c.5232G>A (p.Lys1744=) n.5364G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |