Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.77200616_77206133delCA916084108MYO7Ac.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
11g.77203142C>ACA381952249MYO7Ac.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
11g.77203142C=CA1984125693MYO7Ac.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=
11g.77203142C>GCA381952250MYO7Ac.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
11g.77203142C>TCA381952252MYO7Ac.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
11g.77203143C>ACA381952253MYO7Ac.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
11g.77203143C=CA1984125694MYO7Ac.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=
11g.77203143C>GCA381952254MYO7Ac.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
11g.77203143C>TCA6198655MYO7Ac.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
11g.77203144G>ACA6198656MYO7Ac.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
11g.77203144G>CCA475796944MYO7Ac.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
11g.77203144G=CA1984125695MYO7Ac.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=
11g.77203144G>TCA182426MYO7Ac.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
11g.77203145C>ACA381952257MYO7Ac.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
11g.77203145C=CA1984125696MYO7Ac.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=
11g.77203145C>GCA381952265MYO7Ac.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
11g.77203145C>TCA6198657MYO7Ac.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
11g.77203146T>ACA381952268MYO7Ac.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
11g.77203146T>CCA381952272MYO7Ac.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
11g.77203146T>GCA381952270MYO7Ac.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
11g.77203147C>ACA475796946MYO7Ac.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
11g.77203147C=CA1984125697MYO7Ac.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=
11g.77203147C>GCA6198658MYO7Ac.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
11g.77203147C>TCA475796948MYO7Ac.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
11g.77203148A>CCA381952274MYO7Ac.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
11g.77203148A>GCA381952276MYO7Ac.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
11g.77203148A>TCA381952277MYO7Ac.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
11g.77203149A>CCA381952279MYO7Ac.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
11g.77203149A>GCA381952281MYO7Ac.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
11g.77203149A>TCA381952282MYO7Ac.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
11g.77203149_77203150delCA912973136MYO7Ac.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
11g.77203149_77203150delinsAGCA1984125698MYO7Ac.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
11g.77203150delCA658822326MYO7Ac.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
11g.77203150G>ACA132379MYO7Ac.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
11g.77203150G>CCA381952284MYO7Ac.5259G>C (p.Lys1753Asn)
c.3100G>C
c.5112G>C (p.Lys1704Asn)
c.2685G>C (p.Lys895Asn)
c.5145G>C (p.Lys1715Asn)
n.2795G>C
c.5142G>C (p.Lys1714Asn)
c.5250G>C (p.Lys1750Asn)
c.5253G>C (p.Lys1751Asn)
c.5226G>C (p.Lys1742Asn)
c.5163G>C (p.Lys1721Asn)
c.5034G>C (p.Lys1678Asn)
c.5022G>C (p.Lys1674Asn)
c.4995G>C (p.Lys1665Asn)
n.5579G>C
n.5581G>C
c.5349G>C (p.Lys1783Asn)
c.5343G>C (p.Lys1781Asn)
c.5340G>C (p.Lys1780Asn)
c.5235G>C (p.Lys1745Asn)
c.5232G>C (p.Lys1744Asn)
n.5364G>C
11g.77203150G=CA1984125699MYO7Ac.5259G= (p.Lys1753=)
c.3100G=
c.5112G= (p.Lys1704=)
c.2685G= (p.Lys895=)
c.5145G= (p.Lys1715=)
n.2795G=
c.5142G= (p.Lys1714=)
c.5250G= (p.Lys1750=)
c.5253G= (p.Lys1751=)
c.5226G= (p.Lys1742=)
c.5163G= (p.Lys1721=)
c.5034G= (p.Lys1678=)
c.5022G= (p.Lys1674=)
c.4995G= (p.Lys1665=)
n.5579G=
n.5581G=
c.5349G= (p.Lys1783=)
c.5343G= (p.Lys1781=)
c.5340G= (p.Lys1780=)
c.5235G= (p.Lys1745=)
c.5232G= (p.Lys1744=)
n.5364G=
11g.77203150G>TCA381952286MYO7Ac.5259G>T (p.Lys1753Asn)
c.3100G>T
c.5112G>T (p.Lys1704Asn)
c.2685G>T (p.Lys895Asn)
c.5145G>T (p.Lys1715Asn)
n.2795G>T
c.5142G>T (p.Lys1714Asn)
c.5250G>T (p.Lys1750Asn)
c.5253G>T (p.Lys1751Asn)
c.5226G>T (p.Lys1742Asn)
c.5163G>T (p.Lys1721Asn)
c.5034G>T (p.Lys1678Asn)
c.5022G>T (p.Lys1674Asn)
c.4995G>T (p.Lys1665Asn)
n.5579G>T
n.5581G>T
c.5349G>T (p.Lys1783Asn)
c.5343G>T (p.Lys1781Asn)
c.5340G>T (p.Lys1780Asn)
c.5235G>T (p.Lys1745Asn)
c.5232G>T (p.Lys1744Asn)
n.5364G>T
 gnomAD v4
11g.77203151C>ACA381952287MYO7Ac.5260C>A (p.Gln1754Lys)
c.3101C>A
c.5113C>A (p.Gln1705Lys)
c.2686C>A (p.Gln896Lys)
c.5146C>A (p.Gln1716Lys)
n.2796C>A
c.5143C>A (p.Gln1715Lys)
c.5251C>A (p.Gln1751Lys)
c.5254C>A (p.Gln1752Lys)
c.5227C>A (p.Gln1743Lys)
c.5164C>A (p.Gln1722Lys)
c.5035C>A (p.Gln1679Lys)
c.5023C>A (p.Gln1675Lys)
c.4996C>A (p.Gln1666Lys)
n.5580C>A
n.5582C>A
c.5350C>A (p.Gln1784Lys)
c.5344C>A (p.Gln1782Lys)
c.5341C>A (p.Gln1781Lys)
c.5236C>A (p.Gln1746Lys)
c.5233C>A (p.Gln1745Lys)
n.5365C>A
 gnomAD v4
11g.77203151C>GCA381952289MYO7Ac.5260C>G (p.Gln1754Glu)
c.3101C>G
c.5113C>G (p.Gln1705Glu)
c.2686C>G (p.Gln896Glu)
c.5146C>G (p.Gln1716Glu)
n.2796C>G
c.5143C>G (p.Gln1715Glu)
c.5251C>G (p.Gln1751Glu)
c.5254C>G (p.Gln1752Glu)
c.5227C>G (p.Gln1743Glu)
c.5164C>G (p.Gln1722Glu)
c.5035C>G (p.Gln1679Glu)
c.5023C>G (p.Gln1675Glu)
c.4996C>G (p.Gln1666Glu)
n.5580C>G
n.5582C>G
c.5350C>G (p.Gln1784Glu)
c.5344C>G (p.Gln1782Glu)
c.5341C>G (p.Gln1781Glu)
c.5236C>G (p.Gln1746Glu)
c.5233C>G (p.Gln1745Glu)
n.5365C>G
11g.77203151C>TCA381952290MYO7Ac.5260C>T (p.Gln1754Ter)
c.3101C>T
c.5113C>T (p.Gln1705Ter)
c.2686C>T (p.Gln896Ter)
c.5146C>T (p.Gln1716Ter)
n.2796C>T
c.5143C>T (p.Gln1715Ter)
c.5251C>T (p.Gln1751Ter)
c.5254C>T (p.Gln1752Ter)
c.5227C>T (p.Gln1743Ter)
c.5164C>T (p.Gln1722Ter)
c.5035C>T (p.Gln1679Ter)
c.5023C>T (p.Gln1675Ter)
c.4996C>T (p.Gln1666Ter)
n.5580C>T
n.5582C>T
c.5350C>T (p.Gln1784Ter)
c.5344C>T (p.Gln1782Ter)
c.5341C>T (p.Gln1781Ter)
c.5236C>T (p.Gln1746Ter)
c.5233C>T (p.Gln1745Ter)
n.5365C>T
 ClinVar gnomAD v4
11g.77203152A>CCA381952295MYO7Ac.5261A>C (p.Gln1754Pro)
c.3102A>C
c.5114A>C (p.Gln1705Pro)
c.2687A>C (p.Gln896Pro)
c.5147A>C (p.Gln1716Pro)
n.2797A>C
c.5144A>C (p.Gln1715Pro)
c.5252A>C (p.Gln1751Pro)
c.5255A>C (p.Gln1752Pro)
c.5228A>C (p.Gln1743Pro)
c.5165A>C (p.Gln1722Pro)
c.5036A>C (p.Gln1679Pro)
c.5024A>C (p.Gln1675Pro)
c.4997A>C (p.Gln1666Pro)
n.5581A>C
n.5583A>C
c.5351A>C (p.Gln1784Pro)
c.5345A>C (p.Gln1782Pro)
c.5342A>C (p.Gln1781Pro)
c.5237A>C (p.Gln1746Pro)
c.5234A>C (p.Gln1745Pro)
n.5366A>C
 gnomAD v4
11g.77203152A>GCA381952292MYO7Ac.5261A>G (p.Gln1754Arg)
c.3102A>G
c.5114A>G (p.Gln1705Arg)
c.2687A>G (p.Gln896Arg)
c.5147A>G (p.Gln1716Arg)
n.2797A>G
c.5144A>G (p.Gln1715Arg)
c.5252A>G (p.Gln1751Arg)
c.5255A>G (p.Gln1752Arg)
c.5228A>G (p.Gln1743Arg)
c.5165A>G (p.Gln1722Arg)
c.5036A>G (p.Gln1679Arg)
c.5024A>G (p.Gln1675Arg)
c.4997A>G (p.Gln1666Arg)
n.5581A>G
n.5583A>G
c.5351A>G (p.Gln1784Arg)
c.5345A>G (p.Gln1782Arg)
c.5342A>G (p.Gln1781Arg)
c.5237A>G (p.Gln1746Arg)
c.5234A>G (p.Gln1745Arg)
n.5366A>G
 gnomAD v4
11g.77203152A>TCA381952294MYO7Ac.5261A>T (p.Gln1754Leu)
c.3102A>T
c.5114A>T (p.Gln1705Leu)
c.2687A>T (p.Gln896Leu)
c.5147A>T (p.Gln1716Leu)
n.2797A>T
c.5144A>T (p.Gln1715Leu)
c.5252A>T (p.Gln1751Leu)
c.5255A>T (p.Gln1752Leu)
c.5228A>T (p.Gln1743Leu)
c.5165A>T (p.Gln1722Leu)
c.5036A>T (p.Gln1679Leu)
c.5024A>T (p.Gln1675Leu)
c.4997A>T (p.Gln1666Leu)
n.5581A>T
n.5583A>T
c.5351A>T (p.Gln1784Leu)
c.5345A>T (p.Gln1782Leu)
c.5342A>T (p.Gln1781Leu)
c.5237A>T (p.Gln1746Leu)
c.5234A>T (p.Gln1745Leu)
n.5366A>T
11g.77203153G>ACA475796950MYO7Ac.5262G>A (p.Gln1754=)
c.3103G>A
c.5115G>A (p.Gln1705=)
c.2688G>A (p.Gln896=)
c.5148G>A (p.Gln1716=)
n.2798G>A
c.5145G>A (p.Gln1715=)
c.5253G>A (p.Gln1751=)
c.5256G>A (p.Gln1752=)
c.5229G>A (p.Gln1743=)
c.5166G>A (p.Gln1722=)
c.5037G>A (p.Gln1679=)
c.5025G>A (p.Gln1675=)
c.4998G>A (p.Gln1666=)
n.5582G>A
n.5584G>A
c.5352G>A (p.Gln1784=)
c.5346G>A (p.Gln1782=)
c.5343G>A (p.Gln1781=)
c.5238G>A (p.Gln1746=)
c.5235G>A (p.Gln1745=)
n.5367G>A
11g.77203153G>CCA381952297MYO7Ac.5262G>C (p.Gln1754His)
c.3103G>C
c.5115G>C (p.Gln1705His)
c.2688G>C (p.Gln896His)
c.5148G>C (p.Gln1716His)
n.2798G>C
c.5145G>C (p.Gln1715His)
c.5253G>C (p.Gln1751His)
c.5256G>C (p.Gln1752His)
c.5229G>C (p.Gln1743His)
c.5166G>C (p.Gln1722His)
c.5037G>C (p.Gln1679His)
c.5025G>C (p.Gln1675His)
c.4998G>C (p.Gln1666His)
n.5582G>C
n.5584G>C
c.5352G>C (p.Gln1784His)
c.5346G>C (p.Gln1782His)
c.5343G>C (p.Gln1781His)
c.5238G>C (p.Gln1746His)
c.5235G>C (p.Gln1745His)
n.5367G>C
11g.77203153G=CA1984125700MYO7Ac.5262G= (p.Gln1754=)
c.3103G=
c.5115G= (p.Gln1705=)
c.2688G= (p.Gln896=)
c.5148G= (p.Gln1716=)
n.2798G=
c.5145G= (p.Gln1715=)
c.5253G= (p.Gln1751=)
c.5256G= (p.Gln1752=)
c.5229G= (p.Gln1743=)
c.5166G= (p.Gln1722=)
c.5037G= (p.Gln1679=)
c.5025G= (p.Gln1675=)
c.4998G= (p.Gln1666=)
n.5582G=
n.5584G=
c.5352G= (p.Gln1784=)
c.5346G= (p.Gln1782=)
c.5343G= (p.Gln1781=)
c.5238G= (p.Gln1746=)
c.5235G= (p.Gln1745=)
n.5367G=
11g.77203153G>TCA381952299MYO7Ac.5262G>T (p.Gln1754His)
c.3103G>T
c.5115G>T (p.Gln1705His)
c.2688G>T (p.Gln896His)
c.5148G>T (p.Gln1716His)
n.2798G>T
c.5145G>T (p.Gln1715His)
c.5253G>T (p.Gln1751His)
c.5256G>T (p.Gln1752His)
c.5229G>T (p.Gln1743His)
c.5166G>T (p.Gln1722His)
c.5037G>T (p.Gln1679His)
c.5025G>T (p.Gln1675His)
c.4998G>T (p.Gln1666His)
n.5582G>T
n.5584G>T
c.5352G>T (p.Gln1784His)
c.5346G>T (p.Gln1782His)
c.5343G>T (p.Gln1781His)
c.5238G>T (p.Gln1746His)
c.5235G>T (p.Gln1745His)
n.5367G>T
 dbSNP
11g.77203154G>ACA6198659MYO7Ac.5263G>A (p.Ala1755Thr)
c.3104G>A
c.5116G>A (p.Ala1706Thr)
c.2689G>A (p.Ala897Thr)
c.5149G>A (p.Ala1717Thr)
n.2799G>A
c.5146G>A (p.Ala1716Thr)
c.5254G>A (p.Ala1752Thr)
c.5257G>A (p.Ala1753Thr)
c.5230G>A (p.Ala1744Thr)
c.5167G>A (p.Ala1723Thr)
c.5038G>A (p.Ala1680Thr)
c.5026G>A (p.Ala1676Thr)
c.4999G>A (p.Ala1667Thr)
n.5583G>A
n.5585G>A
c.5353G>A (p.Ala1785Thr)
c.5347G>A (p.Ala1783Thr)
c.5344G>A (p.Ala1782Thr)
c.5239G>A (p.Ala1747Thr)
c.5236G>A (p.Ala1746Thr)
n.5368G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77203154G>CCA381952301MYO7Ac.5263G>C (p.Ala1755Pro)
c.3104G>C
c.5116G>C (p.Ala1706Pro)
c.2689G>C (p.Ala897Pro)
c.5149G>C (p.Ala1717Pro)
n.2799G>C
c.5146G>C (p.Ala1716Pro)
c.5254G>C (p.Ala1752Pro)
c.5257G>C (p.Ala1753Pro)
c.5230G>C (p.Ala1744Pro)
c.5167G>C (p.Ala1723Pro)
c.5038G>C (p.Ala1680Pro)
c.5026G>C (p.Ala1676Pro)
c.4999G>C (p.Ala1667Pro)
n.5583G>C
n.5585G>C
c.5353G>C (p.Ala1785Pro)
c.5347G>C (p.Ala1783Pro)
c.5344G>C (p.Ala1782Pro)
c.5239G>C (p.Ala1747Pro)
c.5236G>C (p.Ala1746Pro)
n.5368G>C
 gnomAD v4
11g.77203154G=CA1984125701MYO7Ac.5263G= (p.Ala1755=)
c.3104G=
c.5116G= (p.Ala1706=)
c.2689G= (p.Ala897=)
c.5149G= (p.Ala1717=)
n.2799G=
c.5146G= (p.Ala1716=)
c.5254G= (p.Ala1752=)
c.5257G= (p.Ala1753=)
c.5230G= (p.Ala1744=)
c.5167G= (p.Ala1723=)
c.5038G= (p.Ala1680=)
c.5026G= (p.Ala1676=)
c.4999G= (p.Ala1667=)
n.5583G=
n.5585G=
c.5353G= (p.Ala1785=)
c.5347G= (p.Ala1783=)
c.5344G= (p.Ala1782=)
c.5239G= (p.Ala1747=)
c.5236G= (p.Ala1746=)
n.5368G=
11g.77203154G>TCA381952302MYO7Ac.5263G>T (p.Ala1755Ser)
c.3104G>T
c.5116G>T (p.Ala1706Ser)
c.2689G>T (p.Ala897Ser)
c.5149G>T (p.Ala1717Ser)
n.2799G>T
c.5146G>T (p.Ala1716Ser)
c.5254G>T (p.Ala1752Ser)
c.5257G>T (p.Ala1753Ser)
c.5230G>T (p.Ala1744Ser)
c.5167G>T (p.Ala1723Ser)
c.5038G>T (p.Ala1680Ser)
c.5026G>T (p.Ala1676Ser)
c.4999G>T (p.Ala1667Ser)
n.5583G>T
n.5585G>T
c.5353G>T (p.Ala1785Ser)
c.5347G>T (p.Ala1783Ser)
c.5344G>T (p.Ala1782Ser)
c.5239G>T (p.Ala1747Ser)
c.5236G>T (p.Ala1746Ser)
n.5368G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77203155C>ACA381952304MYO7Ac.5264C>A (p.Ala1755Glu)
c.3105C>A
c.5117C>A (p.Ala1706Glu)
c.2690C>A (p.Ala897Glu)
c.5150C>A (p.Ala1717Glu)
n.2800C>A
c.5147C>A (p.Ala1716Glu)
c.5255C>A (p.Ala1752Glu)
c.5258C>A (p.Ala1753Glu)
c.5231C>A (p.Ala1744Glu)
c.5168C>A (p.Ala1723Glu)
c.5039C>A (p.Ala1680Glu)
c.5027C>A (p.Ala1676Glu)
c.5000C>A (p.Ala1667Glu)
n.5584C>A
n.5586C>A
c.5354C>A (p.Ala1785Glu)
c.5348C>A (p.Ala1783Glu)
c.5345C>A (p.Ala1782Glu)
c.5240C>A (p.Ala1747Glu)
c.5237C>A (p.Ala1746Glu)
n.5369C>A
 gnomAD v4
11g.77203155C=CA1984125702MYO7Ac.5264C= (p.Ala1755=)
c.3105C=
c.5117C= (p.Ala1706=)
c.2690C= (p.Ala897=)
c.5150C= (p.Ala1717=)
n.2800C=
c.5147C= (p.Ala1716=)
c.5255C= (p.Ala1752=)
c.5258C= (p.Ala1753=)
c.5231C= (p.Ala1744=)
c.5168C= (p.Ala1723=)
c.5039C= (p.Ala1680=)
c.5027C= (p.Ala1676=)
c.5000C= (p.Ala1667=)
n.5584C=
n.5586C=
c.5354C= (p.Ala1785=)
c.5348C= (p.Ala1783=)
c.5345C= (p.Ala1782=)
c.5240C= (p.Ala1747=)
c.5237C= (p.Ala1746=)
n.5369C=
11g.77203155C>GCA381952306MYO7Ac.5264C>G (p.Ala1755Gly)
c.3105C>G
c.5117C>G (p.Ala1706Gly)
c.2690C>G (p.Ala897Gly)
c.5150C>G (p.Ala1717Gly)
n.2800C>G
c.5147C>G (p.Ala1716Gly)
c.5255C>G (p.Ala1752Gly)
c.5258C>G (p.Ala1753Gly)
c.5231C>G (p.Ala1744Gly)
c.5168C>G (p.Ala1723Gly)
c.5039C>G (p.Ala1680Gly)
c.5027C>G (p.Ala1676Gly)
c.5000C>G (p.Ala1667Gly)
n.5584C>G
n.5586C>G
c.5354C>G (p.Ala1785Gly)
c.5348C>G (p.Ala1783Gly)
c.5345C>G (p.Ala1782Gly)
c.5240C>G (p.Ala1747Gly)
c.5237C>G (p.Ala1746Gly)
n.5369C>G
11g.77203155C>TCA6198660MYO7Ac.5264C>T (p.Ala1755Val)
c.3105C>T
c.5117C>T (p.Ala1706Val)
c.2690C>T (p.Ala897Val)
c.5150C>T (p.Ala1717Val)
n.2800C>T
c.5147C>T (p.Ala1716Val)
c.5255C>T (p.Ala1752Val)
c.5258C>T (p.Ala1753Val)
c.5231C>T (p.Ala1744Val)
c.5168C>T (p.Ala1723Val)
c.5039C>T (p.Ala1680Val)
c.5027C>T (p.Ala1676Val)
c.5000C>T (p.Ala1667Val)
n.5584C>T
n.5586C>T
c.5354C>T (p.Ala1785Val)
c.5348C>T (p.Ala1783Val)
c.5345C>T (p.Ala1782Val)
c.5240C>T (p.Ala1747Val)
c.5237C>T (p.Ala1746Val)
n.5369C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77203156G>ACA6198661MYO7Ac.5265G>A (p.Ala1755=)
c.3106G>A
c.5118G>A (p.Ala1706=)
c.2691G>A (p.Ala897=)
c.5151G>A (p.Ala1717=)
n.2801G>A
c.5148G>A (p.Ala1716=)
c.5256G>A (p.Ala1752=)
c.5259G>A (p.Ala1753=)
c.5232G>A (p.Ala1744=)
c.5169G>A (p.Ala1723=)
c.5040G>A (p.Ala1680=)
c.5028G>A (p.Ala1676=)
c.5001G>A (p.Ala1667=)
n.5585G>A
n.5587G>A
c.5355G>A (p.Ala1785=)
c.5349G>A (p.Ala1783=)
c.5346G>A (p.Ala1782=)
c.5241G>A (p.Ala1747=)
c.5238G>A (p.Ala1746=)
n.5370G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77203156G>CCA475796951MYO7Ac.5265G>C (p.Ala1755=)
c.3106G>C
c.5118G>C (p.Ala1706=)
c.2691G>C (p.Ala897=)
c.5151G>C (p.Ala1717=)
n.2801G>C
c.5148G>C (p.Ala1716=)
c.5256G>C (p.Ala1752=)
c.5259G>C (p.Ala1753=)
c.5232G>C (p.Ala1744=)
c.5169G>C (p.Ala1723=)
c.5040G>C (p.Ala1680=)
c.5028G>C (p.Ala1676=)
c.5001G>C (p.Ala1667=)
n.5585G>C
n.5587G>C
c.5355G>C (p.Ala1785=)
c.5349G>C (p.Ala1783=)
c.5346G>C (p.Ala1782=)
c.5241G>C (p.Ala1747=)
c.5238G>C (p.Ala1746=)
n.5370G>C
 gnomAD v4
11g.77203156G=CA1984125703MYO7Ac.5265G= (p.Ala1755=)
c.3106G=
c.5118G= (p.Ala1706=)
c.2691G= (p.Ala897=)
c.5151G= (p.Ala1717=)
n.2801G=
c.5148G= (p.Ala1716=)
c.5256G= (p.Ala1752=)
c.5259G= (p.Ala1753=)
c.5232G= (p.Ala1744=)
c.5169G= (p.Ala1723=)
c.5040G= (p.Ala1680=)
c.5028G= (p.Ala1676=)
c.5001G= (p.Ala1667=)
n.5585G=
n.5587G=
c.5355G= (p.Ala1785=)
c.5349G= (p.Ala1783=)
c.5346G= (p.Ala1782=)
c.5241G= (p.Ala1747=)
c.5238G= (p.Ala1746=)
n.5370G=
11g.77203156G>TCA6198662MYO7Ac.5265G>T (p.Ala1755=)
c.3106G>T
c.5118G>T (p.Ala1706=)
c.2691G>T (p.Ala897=)
c.5151G>T (p.Ala1717=)
n.2801G>T
c.5148G>T (p.Ala1716=)
c.5256G>T (p.Ala1752=)
c.5259G>T (p.Ala1753=)
c.5232G>T (p.Ala1744=)
c.5169G>T (p.Ala1723=)
c.5040G>T (p.Ala1680=)
c.5028G>T (p.Ala1676=)
c.5001G>T (p.Ala1667=)
n.5585G>T
n.5587G>T
c.5355G>T (p.Ala1785=)
c.5349G>T (p.Ala1783=)
c.5346G>T (p.Ala1782=)
c.5241G>T (p.Ala1747=)
c.5238G>T (p.Ala1746=)
n.5370G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77203157C>ACA381952308MYO7Ac.5266C>A (p.Leu1756Met)
c.3107C>A
c.5119C>A (p.Leu1707Met)
c.2692C>A (p.Leu898Met)
c.5152C>A (p.Leu1718Met)
n.2802C>A
c.5149C>A (p.Leu1717Met)
c.5257C>A (p.Leu1753Met)
c.5260C>A (p.Leu1754Met)
c.5233C>A (p.Leu1745Met)
c.5170C>A (p.Leu1724Met)
c.5041C>A (p.Leu1681Met)
c.5029C>A (p.Leu1677Met)
c.5002C>A (p.Leu1668Met)
n.5586C>A
n.5588C>A
c.5356C>A (p.Leu1786Met)
c.5350C>A (p.Leu1784Met)
c.5347C>A (p.Leu1783Met)
c.5242C>A (p.Leu1748Met)
c.5239C>A (p.Leu1747Met)
n.5371C>A
 gnomAD v4
11g.77203157C=CA1984125704MYO7Ac.5266C= (p.Leu1756=)
c.3107C=
c.5119C= (p.Leu1707=)
c.2692C= (p.Leu898=)
c.5152C= (p.Leu1718=)
n.2802C=
c.5149C= (p.Leu1717=)
c.5257C= (p.Leu1753=)
c.5260C= (p.Leu1754=)
c.5233C= (p.Leu1745=)
c.5170C= (p.Leu1724=)
c.5041C= (p.Leu1681=)
c.5029C= (p.Leu1677=)
c.5002C= (p.Leu1668=)
n.5586C=
n.5588C=
c.5356C= (p.Leu1786=)
c.5350C= (p.Leu1784=)
c.5347C= (p.Leu1783=)
c.5242C= (p.Leu1748=)
c.5239C= (p.Leu1747=)
n.5371C=
11g.77203157C>GCA381952309MYO7Ac.5266C>G (p.Leu1756Val)
c.3107C>G
c.5119C>G (p.Leu1707Val)
c.2692C>G (p.Leu898Val)
c.5152C>G (p.Leu1718Val)
n.2802C>G
c.5149C>G (p.Leu1717Val)
c.5257C>G (p.Leu1753Val)
c.5260C>G (p.Leu1754Val)
c.5233C>G (p.Leu1745Val)
c.5170C>G (p.Leu1724Val)
c.5041C>G (p.Leu1681Val)
c.5029C>G (p.Leu1677Val)
c.5002C>G (p.Leu1668Val)
n.5586C>G
n.5588C>G
c.5356C>G (p.Leu1786Val)
c.5350C>G (p.Leu1784Val)
c.5347C>G (p.Leu1783Val)
c.5242C>G (p.Leu1748Val)
c.5239C>G (p.Leu1747Val)
n.5371C>G
11g.77203157C>TCA475796952MYO7Ac.5266C>T (p.Leu1756=)
c.3107C>T
c.5119C>T (p.Leu1707=)
c.2692C>T (p.Leu898=)
c.5152C>T (p.Leu1718=)
n.2802C>T
c.5149C>T (p.Leu1717=)
c.5257C>T (p.Leu1753=)
c.5260C>T (p.Leu1754=)
c.5233C>T (p.Leu1745=)
c.5170C>T (p.Leu1724=)
c.5041C>T (p.Leu1681=)
c.5029C>T (p.Leu1677=)
c.5002C>T (p.Leu1668=)
n.5586C>T
n.5588C>T
c.5356C>T (p.Leu1786=)
c.5350C>T (p.Leu1784=)
c.5347C>T (p.Leu1783=)
c.5242C>T (p.Leu1748=)
c.5239C>T (p.Leu1747=)
n.5371C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77203158T>ACA381952311MYO7Ac.5267T>A (p.Leu1756Gln)
c.3108T>A
c.5120T>A (p.Leu1707Gln)
c.2693T>A (p.Leu898Gln)
c.5153T>A (p.Leu1718Gln)
n.2803T>A
c.5150T>A (p.Leu1717Gln)
c.5258T>A (p.Leu1753Gln)
c.5261T>A (p.Leu1754Gln)
c.5234T>A (p.Leu1745Gln)
c.5171T>A (p.Leu1724Gln)
c.5042T>A (p.Leu1681Gln)
c.5030T>A (p.Leu1677Gln)
c.5003T>A (p.Leu1668Gln)
n.5587T>A
n.5589T>A
c.5357T>A (p.Leu1786Gln)
c.5351T>A (p.Leu1784Gln)
c.5348T>A (p.Leu1783Gln)
c.5243T>A (p.Leu1748Gln)
c.5240T>A (p.Leu1747Gln)
n.5372T>A
11g.77203158T>CCA381952315MYO7Ac.5267T>C (p.Leu1756Pro)
c.3108T>C
c.5120T>C (p.Leu1707Pro)
c.2693T>C (p.Leu898Pro)
c.5153T>C (p.Leu1718Pro)
n.2803T>C
c.5150T>C (p.Leu1717Pro)
c.5258T>C (p.Leu1753Pro)
c.5261T>C (p.Leu1754Pro)
c.5234T>C (p.Leu1745Pro)
c.5171T>C (p.Leu1724Pro)
c.5042T>C (p.Leu1681Pro)
c.5030T>C (p.Leu1677Pro)
c.5003T>C (p.Leu1668Pro)
n.5587T>C
n.5589T>C
c.5357T>C (p.Leu1786Pro)
c.5351T>C (p.Leu1784Pro)
c.5348T>C (p.Leu1783Pro)
c.5243T>C (p.Leu1748Pro)
c.5240T>C (p.Leu1747Pro)
n.5372T>C
11g.77203158T>GCA381952313MYO7Ac.5267T>G (p.Leu1756Arg)
c.3108T>G
c.5120T>G (p.Leu1707Arg)
c.2693T>G (p.Leu898Arg)
c.5153T>G (p.Leu1718Arg)
n.2803T>G
c.5150T>G (p.Leu1717Arg)
c.5258T>G (p.Leu1753Arg)
c.5261T>G (p.Leu1754Arg)
c.5234T>G (p.Leu1745Arg)
c.5171T>G (p.Leu1724Arg)
c.5042T>G (p.Leu1681Arg)
c.5030T>G (p.Leu1677Arg)
c.5003T>G (p.Leu1668Arg)
n.5587T>G
n.5589T>G
c.5357T>G (p.Leu1786Arg)
c.5351T>G (p.Leu1784Arg)
c.5348T>G (p.Leu1783Arg)
c.5243T>G (p.Leu1748Arg)
c.5240T>G (p.Leu1747Arg)
n.5372T>G
11g.77203159G>ACA6198663MYO7Ac.5268G>A (p.Leu1756=)
c.3109G>A
c.5121G>A (p.Leu1707=)
c.2694G>A (p.Leu898=)
c.5154G>A (p.Leu1718=)
n.2804G>A
c.5151G>A (p.Leu1717=)
c.5259G>A (p.Leu1753=)
c.5262G>A (p.Leu1754=)
c.5235G>A (p.Leu1745=)
c.5172G>A (p.Leu1724=)
c.5043G>A (p.Leu1681=)
c.5031G>A (p.Leu1677=)
c.5004G>A (p.Leu1668=)
n.5588G>A
n.5590G>A
c.5358G>A (p.Leu1786=)
c.5352G>A (p.Leu1784=)
c.5349G>A (p.Leu1783=)
c.5244G>A (p.Leu1748=)
c.5241G>A (p.Leu1747=)
n.5373G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77203159G>CCA475796956MYO7Ac.5268G>C (p.Leu1756=)
c.3109G>C
c.5121G>C (p.Leu1707=)
c.2694G>C (p.Leu898=)
c.5154G>C (p.Leu1718=)
n.2804G>C
c.5151G>C (p.Leu1717=)
c.5259G>C (p.Leu1753=)
c.5262G>C (p.Leu1754=)
c.5235G>C (p.Leu1745=)
c.5172G>C (p.Leu1724=)
c.5043G>C (p.Leu1681=)
c.5031G>C (p.Leu1677=)
c.5004G>C (p.Leu1668=)
n.5588G>C
n.5590G>C
c.5358G>C (p.Leu1786=)
c.5352G>C (p.Leu1784=)
c.5349G>C (p.Leu1783=)
c.5244G>C (p.Leu1748=)
c.5241G>C (p.Leu1747=)
n.5373G>C
11g.77203159G=CA1984125705MYO7Ac.5268G= (p.Leu1756=)
c.3109G=
c.5121G= (p.Leu1707=)
c.2694G= (p.Leu898=)
c.5154G= (p.Leu1718=)
n.2804G=
c.5151G= (p.Leu1717=)
c.5259G= (p.Leu1753=)
c.5262G= (p.Leu1754=)
c.5235G= (p.Leu1745=)
c.5172G= (p.Leu1724=)
c.5043G= (p.Leu1681=)
c.5031G= (p.Leu1677=)
c.5004G= (p.Leu1668=)
n.5588G=
n.5590G=
c.5358G= (p.Leu1786=)
c.5352G= (p.Leu1784=)
c.5349G= (p.Leu1783=)
c.5244G= (p.Leu1748=)
c.5241G= (p.Leu1747=)
n.5373G=
11g.77203159G>TCA475796955MYO7Ac.5268G>T (p.Leu1756=)
c.3109G>T
c.5121G>T (p.Leu1707=)
c.2694G>T (p.Leu898=)
c.5154G>T (p.Leu1718=)
n.2804G>T
c.5151G>T (p.Leu1717=)
c.5259G>T (p.Leu1753=)
c.5262G>T (p.Leu1754=)
c.5235G>T (p.Leu1745=)
c.5172G>T (p.Leu1724=)
c.5043G>T (p.Leu1681=)
c.5031G>T (p.Leu1677=)
c.5004G>T (p.Leu1668=)
n.5588G>T
n.5590G>T
c.5358G>T (p.Leu1786=)
c.5352G>T (p.Leu1784=)
c.5349G>T (p.Leu1783=)
c.5244G>T (p.Leu1748=)
c.5241G>T (p.Leu1747=)
n.5373G>T
 ClinVar gnomAD v4
11g.77203160C>ACA381952318MYO7Ac.5269C>A (p.Leu1757Ile)
c.3110C>A
c.5122C>A (p.Leu1708Ile)
c.2695C>A (p.Leu899Ile)
c.5155C>A (p.Leu1719Ile)
n.2805C>A
c.5152C>A (p.Leu1718Ile)
c.5260C>A (p.Leu1754Ile)
c.5263C>A (p.Leu1755Ile)
c.5236C>A (p.Leu1746Ile)
c.5173C>A (p.Leu1725Ile)
c.5044C>A (p.Leu1682Ile)
c.5032C>A (p.Leu1678Ile)
c.5005C>A (p.Leu1669Ile)
n.5589C>A
n.5591C>A
c.5359C>A (p.Leu1787Ile)
c.5353C>A (p.Leu1785Ile)
c.5350C>A (p.Leu1784Ile)
c.5245C>A (p.Leu1749Ile)
c.5242C>A (p.Leu1748Ile)
n.5374C>A
 gnomAD v4
11g.77203160C>GCA381952319MYO7Ac.5269C>G (p.Leu1757Val)
c.3110C>G
c.5122C>G (p.Leu1708Val)
c.2695C>G (p.Leu899Val)
c.5155C>G (p.Leu1719Val)
n.2805C>G
c.5152C>G (p.Leu1718Val)
c.5260C>G (p.Leu1754Val)
c.5263C>G (p.Leu1755Val)
c.5236C>G (p.Leu1746Val)
c.5173C>G (p.Leu1725Val)
c.5044C>G (p.Leu1682Val)
c.5032C>G (p.Leu1678Val)
c.5005C>G (p.Leu1669Val)
n.5589C>G
n.5591C>G
c.5359C>G (p.Leu1787Val)
c.5353C>G (p.Leu1785Val)
c.5350C>G (p.Leu1784Val)
c.5245C>G (p.Leu1749Val)
c.5242C>G (p.Leu1748Val)
n.5374C>G
11g.77203160C>TCA381952320MYO7Ac.5269C>T (p.Leu1757Phe)
c.3110C>T
c.5122C>T (p.Leu1708Phe)
c.2695C>T (p.Leu899Phe)
c.5155C>T (p.Leu1719Phe)
n.2805C>T
c.5152C>T (p.Leu1718Phe)
c.5260C>T (p.Leu1754Phe)
c.5263C>T (p.Leu1755Phe)
c.5236C>T (p.Leu1746Phe)
c.5173C>T (p.Leu1725Phe)
c.5044C>T (p.Leu1682Phe)
c.5032C>T (p.Leu1678Phe)
c.5005C>T (p.Leu1669Phe)
n.5589C>T
n.5591C>T
c.5359C>T (p.Leu1787Phe)
c.5353C>T (p.Leu1785Phe)
c.5350C>T (p.Leu1784Phe)
c.5245C>T (p.Leu1749Phe)
c.5242C>T (p.Leu1748Phe)
n.5374C>T
 gnomAD v4
11g.77203161T>ACA381952322MYO7Ac.5270T>A (p.Leu1757His)
c.3111T>A
c.5123T>A (p.Leu1708His)
c.2696T>A (p.Leu899His)
c.5156T>A (p.Leu1719His)
n.2806T>A
c.5153T>A (p.Leu1718His)
c.5261T>A (p.Leu1754His)
c.5264T>A (p.Leu1755His)
c.5237T>A (p.Leu1746His)
c.5174T>A (p.Leu1725His)
c.5045T>A (p.Leu1682His)
c.5033T>A (p.Leu1678His)
c.5006T>A (p.Leu1669His)
n.5590T>A
n.5592T>A
c.5360T>A (p.Leu1787His)
c.5354T>A (p.Leu1785His)
c.5351T>A (p.Leu1784His)
c.5246T>A (p.Leu1749His)
c.5243T>A (p.Leu1748His)
n.5375T>A
11g.77203161T>CCA381952324MYO7Ac.5270T>C (p.Leu1757Pro)
c.3111T>C
c.5123T>C (p.Leu1708Pro)
c.2696T>C (p.Leu899Pro)
c.5156T>C (p.Leu1719Pro)
n.2806T>C
c.5153T>C (p.Leu1718Pro)
c.5261T>C (p.Leu1754Pro)
c.5264T>C (p.Leu1755Pro)
c.5237T>C (p.Leu1746Pro)
c.5174T>C (p.Leu1725Pro)
c.5045T>C (p.Leu1682Pro)
c.5033T>C (p.Leu1678Pro)
c.5006T>C (p.Leu1669Pro)
n.5590T>C
n.5592T>C
c.5360T>C (p.Leu1787Pro)
c.5354T>C (p.Leu1785Pro)
c.5351T>C (p.Leu1784Pro)
c.5246T>C (p.Leu1749Pro)
c.5243T>C (p.Leu1748Pro)
n.5375T>C
 gnomAD v4
11g.77203161T>GCA381952326MYO7Ac.5270T>G (p.Leu1757Arg)
c.3111T>G
c.5123T>G (p.Leu1708Arg)
c.2696T>G (p.Leu899Arg)
c.5156T>G (p.Leu1719Arg)
n.2806T>G
c.5153T>G (p.Leu1718Arg)
c.5261T>G (p.Leu1754Arg)
c.5264T>G (p.Leu1755Arg)
c.5237T>G (p.Leu1746Arg)
c.5174T>G (p.Leu1725Arg)
c.5045T>G (p.Leu1682Arg)
c.5033T>G (p.Leu1678Arg)
c.5006T>G (p.Leu1669Arg)
n.5590T>G
n.5592T>G
c.5360T>G (p.Leu1787Arg)
c.5354T>G (p.Leu1785Arg)
c.5351T>G (p.Leu1784Arg)
c.5246T>G (p.Leu1749Arg)
c.5243T>G (p.Leu1748Arg)
n.5375T>G
11g.77203162C>ACA475796958MYO7Ac.5271C>A (p.Leu1757=)
c.3112C>A
c.5124C>A (p.Leu1708=)
c.2697C>A (p.Leu899=)
c.5157C>A (p.Leu1719=)
n.2807C>A
c.5154C>A (p.Leu1718=)
c.5262C>A (p.Leu1754=)
c.5265C>A (p.Leu1755=)
c.5238C>A (p.Leu1746=)
c.5175C>A (p.Leu1725=)
c.5046C>A (p.Leu1682=)
c.5034C>A (p.Leu1678=)
c.5007C>A (p.Leu1669=)
n.5591C>A
n.5593C>A
c.5361C>A (p.Leu1787=)
c.5355C>A (p.Leu1785=)
c.5352C>A (p.Leu1784=)
c.5247C>A (p.Leu1749=)
c.5244C>A (p.Leu1748=)
n.5376C>A
 gnomAD v4
11g.77203162C>GCA475796960MYO7Ac.5271C>G (p.Leu1757=)
c.3112C>G
c.5124C>G (p.Leu1708=)
c.2697C>G (p.Leu899=)
c.5157C>G (p.Leu1719=)
n.2807C>G
c.5154C>G (p.Leu1718=)
c.5262C>G (p.Leu1754=)
c.5265C>G (p.Leu1755=)
c.5238C>G (p.Leu1746=)
c.5175C>G (p.Leu1725=)
c.5046C>G (p.Leu1682=)
c.5034C>G (p.Leu1678=)
c.5007C>G (p.Leu1669=)
n.5591C>G
n.5593C>G
c.5361C>G (p.Leu1787=)
c.5355C>G (p.Leu1785=)
c.5352C>G (p.Leu1784=)
c.5247C>G (p.Leu1749=)
c.5244C>G (p.Leu1748=)
n.5376C>G
 ClinVar gnomAD v4
11g.77203162C>TCA475796959MYO7Ac.5271C>T (p.Leu1757=)
c.3112C>T
c.5124C>T (p.Leu1708=)
c.2697C>T (p.Leu899=)
c.5157C>T (p.Leu1719=)
n.2807C>T
c.5154C>T (p.Leu1718=)
c.5262C>T (p.Leu1754=)
c.5265C>T (p.Leu1755=)
c.5238C>T (p.Leu1746=)
c.5175C>T (p.Leu1725=)
c.5046C>T (p.Leu1682=)
c.5034C>T (p.Leu1678=)
c.5007C>T (p.Leu1669=)
n.5591C>T
n.5593C>T
c.5361C>T (p.Leu1787=)
c.5355C>T (p.Leu1785=)
c.5352C>T (p.Leu1784=)
c.5247C>T (p.Leu1749=)
c.5244C>T (p.Leu1748=)
n.5376C>T
 ClinVar dbSNP gnomAD v4
11g.77203163A>CCA381952327MYO7Ac.5272A>C (p.Lys1758Gln)
c.3113A>C
c.5125A>C (p.Lys1709Gln)
c.2698A>C (p.Lys900Gln)
c.5158A>C (p.Lys1720Gln)
n.2808A>C
c.5155A>C (p.Lys1719Gln)
c.5263A>C (p.Lys1755Gln)
c.5266A>C (p.Lys1756Gln)
c.5239A>C (p.Lys1747Gln)
c.5176A>C (p.Lys1726Gln)
c.5047A>C (p.Lys1683Gln)
c.5035A>C (p.Lys1679Gln)
c.5008A>C (p.Lys1670Gln)
n.5592A>C
n.5594A>C
c.5362A>C (p.Lys1788Gln)
c.5356A>C (p.Lys1786Gln)
c.5353A>C (p.Lys1785Gln)
c.5248A>C (p.Lys1750Gln)
c.5245A>C (p.Lys1749Gln)
n.5377A>C
11g.77203163A>GCA381952328MYO7Ac.5272A>G (p.Lys1758Glu)
c.3113A>G
c.5125A>G (p.Lys1709Glu)
c.2698A>G (p.Lys900Glu)
c.5158A>G (p.Lys1720Glu)
n.2808A>G
c.5155A>G (p.Lys1719Glu)
c.5263A>G (p.Lys1755Glu)
c.5266A>G (p.Lys1756Glu)
c.5239A>G (p.Lys1747Glu)
c.5176A>G (p.Lys1726Glu)
c.5047A>G (p.Lys1683Glu)
c.5035A>G (p.Lys1679Glu)
c.5008A>G (p.Lys1670Glu)
n.5592A>G
n.5594A>G
c.5362A>G (p.Lys1788Glu)
c.5356A>G (p.Lys1786Glu)
c.5353A>G (p.Lys1785Glu)
c.5248A>G (p.Lys1750Glu)
c.5245A>G (p.Lys1749Glu)
n.5377A>G
 gnomAD v4
11g.77203163A>TCA381952330MYO7Ac.5272A>T (p.Lys1758Ter)
c.3113A>T
c.5125A>T (p.Lys1709Ter)
c.2698A>T (p.Lys900Ter)
c.5158A>T (p.Lys1720Ter)
n.2808A>T
c.5155A>T (p.Lys1719Ter)
c.5263A>T (p.Lys1755Ter)
c.5266A>T (p.Lys1756Ter)
c.5239A>T (p.Lys1747Ter)
c.5176A>T (p.Lys1726Ter)
c.5047A>T (p.Lys1683Ter)
c.5035A>T (p.Lys1679Ter)
c.5008A>T (p.Lys1670Ter)
n.5592A>T
n.5594A>T
c.5362A>T (p.Lys1788Ter)
c.5356A>T (p.Lys1786Ter)
c.5353A>T (p.Lys1785Ter)
c.5248A>T (p.Lys1750Ter)
c.5245A>T (p.Lys1749Ter)
n.5377A>T
11g.77203163_77203180delCA2615262305MYO7Ac.5272_5289del (p.Lys1758_Ser1763del)
c.3113_3130del
c.5125_5142del (p.Lys1709_Ser1714del)
c.2698_2715del (p.Lys900_Ser905del)
c.5158_5175del (p.Lys1720_Ser1725del)
n.2808_2825del
c.5155_5172del (p.Lys1719_Ser1724del)
c.5263_5280del (p.Lys1755_Ser1760del)
c.5266_5283del (p.Lys1756_Ser1761del)
c.5239_5256del (p.Lys1747_Ser1752del)
c.5176_5193del (p.Lys1726_Ser1731del)
c.5047_5064del (p.Lys1683_Ser1688del)
c.5035_5052del (p.Lys1679_Ser1684del)
c.5008_5025del (p.Lys1670_Ser1675del)
n.5592_5609del
n.5594_5611del
c.5362_5379del (p.Lys1788_Ser1793del)
c.5356_5373del (p.Lys1786_Ser1791del)
c.5353_5370del (p.Lys1785_Ser1790del)
c.5248_5265del (p.Lys1750_Ser1755del)
c.5245_5262del (p.Lys1749_Ser1754del)
n.5377_5394del
 gnomAD v4
11g.77203164A=CA1984125706MYO7Ac.5273A= (p.Lys1758=)
c.3114A=
c.5126A= (p.Lys1709=)
c.2699A= (p.Lys900=)
c.5159A= (p.Lys1720=)
n.2809A=
c.5156A= (p.Lys1719=)
c.5264A= (p.Lys1755=)
c.5267A= (p.Lys1756=)
c.5240A= (p.Lys1747=)
c.5177A= (p.Lys1726=)
c.5048A= (p.Lys1683=)
c.5036A= (p.Lys1679=)
c.5009A= (p.Lys1670=)
n.5593A=
n.5595A=
c.5363A= (p.Lys1788=)
c.5357A= (p.Lys1786=)
c.5354A= (p.Lys1785=)
c.5249A= (p.Lys1750=)
c.5246A= (p.Lys1749=)
n.5378A=
11g.77203164A>CCA381952332MYO7Ac.5273A>C (p.Lys1758Thr)
c.3114A>C
c.5126A>C (p.Lys1709Thr)
c.2699A>C (p.Lys900Thr)
c.5159A>C (p.Lys1720Thr)
n.2809A>C
c.5156A>C (p.Lys1719Thr)
c.5264A>C (p.Lys1755Thr)
c.5267A>C (p.Lys1756Thr)
c.5240A>C (p.Lys1747Thr)
c.5177A>C (p.Lys1726Thr)
c.5048A>C (p.Lys1683Thr)
c.5036A>C (p.Lys1679Thr)
c.5009A>C (p.Lys1670Thr)
n.5593A>C
n.5595A>C
c.5363A>C (p.Lys1788Thr)
c.5357A>C (p.Lys1786Thr)
c.5354A>C (p.Lys1785Thr)
c.5249A>C (p.Lys1750Thr)
c.5246A>C (p.Lys1749Thr)
n.5378A>C
11g.77203164A>GCA381952334MYO7Ac.5273A>G (p.Lys1758Arg)
c.3114A>G
c.5126A>G (p.Lys1709Arg)
c.2699A>G (p.Lys900Arg)
c.5159A>G (p.Lys1720Arg)
n.2809A>G
c.5156A>G (p.Lys1719Arg)
c.5264A>G (p.Lys1755Arg)
c.5267A>G (p.Lys1756Arg)
c.5240A>G (p.Lys1747Arg)
c.5177A>G (p.Lys1726Arg)
c.5048A>G (p.Lys1683Arg)
c.5036A>G (p.Lys1679Arg)
c.5009A>G (p.Lys1670Arg)
n.5593A>G
n.5595A>G
c.5363A>G (p.Lys1788Arg)
c.5357A>G (p.Lys1786Arg)
c.5354A>G (p.Lys1785Arg)
c.5249A>G (p.Lys1750Arg)
c.5246A>G (p.Lys1749Arg)
n.5378A>G
 dbSNP
11g.77203164A>TCA381952336MYO7Ac.5273A>T (p.Lys1758Met)
c.3114A>T
c.5126A>T (p.Lys1709Met)
c.2699A>T (p.Lys900Met)
c.5159A>T (p.Lys1720Met)
n.2809A>T
c.5156A>T (p.Lys1719Met)
c.5264A>T (p.Lys1755Met)
c.5267A>T (p.Lys1756Met)
c.5240A>T (p.Lys1747Met)
c.5177A>T (p.Lys1726Met)
c.5048A>T (p.Lys1683Met)
c.5036A>T (p.Lys1679Met)
c.5009A>T (p.Lys1670Met)
n.5593A>T
n.5595A>T
c.5363A>T (p.Lys1788Met)
c.5357A>T (p.Lys1786Met)
c.5354A>T (p.Lys1785Met)
c.5249A>T (p.Lys1750Met)
c.5246A>T (p.Lys1749Met)
n.5378A>T
 gnomAD v4
11g.77203165G>ACA475796961MYO7Ac.5274G>A (p.Lys1758=)
c.3115G>A
c.5127G>A (p.Lys1709=)
c.2700G>A (p.Lys900=)
c.5160G>A (p.Lys1720=)
n.2810G>A
c.5157G>A (p.Lys1719=)
c.5265G>A (p.Lys1755=)
c.5268G>A (p.Lys1756=)
c.5241G>A (p.Lys1747=)
c.5178G>A (p.Lys1726=)
c.5049G>A (p.Lys1683=)
c.5037G>A (p.Lys1679=)
c.5010G>A (p.Lys1670=)
n.5594G>A
n.5596G>A
c.5364G>A (p.Lys1788=)
c.5358G>A (p.Lys1786=)
c.5355G>A (p.Lys1785=)
c.5250G>A (p.Lys1750=)
c.5247G>A (p.Lys1749=)
n.5379G>A
11g.77203165G>CCA381952337MYO7Ac.5274G>C (p.Lys1758Asn)
c.3115G>C
c.5127G>C (p.Lys1709Asn)
c.2700G>C (p.Lys900Asn)
c.5160G>C (p.Lys1720Asn)
n.2810G>C
c.5157G>C (p.Lys1719Asn)
c.5265G>C (p.Lys1755Asn)
c.5268G>C (p.Lys1756Asn)
c.5241G>C (p.Lys1747Asn)
c.5178G>C (p.Lys1726Asn)
c.5049G>C (p.Lys1683Asn)
c.5037G>C (p.Lys1679Asn)
c.5010G>C (p.Lys1670Asn)
n.5594G>C
n.5596G>C
c.5364G>C (p.Lys1788Asn)
c.5358G>C (p.Lys1786Asn)
c.5355G>C (p.Lys1785Asn)
c.5250G>C (p.Lys1750Asn)
c.5247G>C (p.Lys1749Asn)
n.5379G>C
11g.77203165G>TCA381952338MYO7Ac.5274G>T (p.Lys1758Asn)
c.3115G>T
c.5127G>T (p.Lys1709Asn)
c.2700G>T (p.Lys900Asn)
c.5160G>T (p.Lys1720Asn)
n.2810G>T
c.5157G>T (p.Lys1719Asn)
c.5265G>T (p.Lys1755Asn)
c.5268G>T (p.Lys1756Asn)
c.5241G>T (p.Lys1747Asn)
c.5178G>T (p.Lys1726Asn)
c.5049G>T (p.Lys1683Asn)
c.5037G>T (p.Lys1679Asn)
c.5010G>T (p.Lys1670Asn)
n.5594G>T
n.5596G>T
c.5364G>T (p.Lys1788Asn)
c.5358G>T (p.Lys1786Asn)
c.5355G>T (p.Lys1785Asn)
c.5250G>T (p.Lys1750Asn)
c.5247G>T (p.Lys1749Asn)
n.5379G>T
11g.77203166A=CA1984125707MYO7Ac.5275A= (p.Lys1759=)
c.3116A=
c.5128A= (p.Lys1710=)
c.2701A= (p.Lys901=)
c.5161A= (p.Lys1721=)
n.2811A=
c.5158A= (p.Lys1720=)
c.5266A= (p.Lys1756=)
c.5269A= (p.Lys1757=)
c.5242A= (p.Lys1748=)
c.5179A= (p.Lys1727=)
c.5050A= (p.Lys1684=)
c.5038A= (p.Lys1680=)
c.5011A= (p.Lys1671=)
n.5595A=
n.5597A=
c.5365A= (p.Lys1789=)
c.5359A= (p.Lys1787=)
c.5356A= (p.Lys1786=)
c.5251A= (p.Lys1751=)
c.5248A= (p.Lys1750=)
n.5380A=
11g.77203166A>CCA381952340MYO7Ac.5275A>C (p.Lys1759Gln)
c.3116A>C
c.5128A>C (p.Lys1710Gln)
c.2701A>C (p.Lys901Gln)
c.5161A>C (p.Lys1721Gln)
n.2811A>C
c.5158A>C (p.Lys1720Gln)
c.5266A>C (p.Lys1756Gln)
c.5269A>C (p.Lys1757Gln)
c.5242A>C (p.Lys1748Gln)
c.5179A>C (p.Lys1727Gln)
c.5050A>C (p.Lys1684Gln)
c.5038A>C (p.Lys1680Gln)
c.5011A>C (p.Lys1671Gln)
n.5595A>C
n.5597A>C
c.5365A>C (p.Lys1789Gln)
c.5359A>C (p.Lys1787Gln)
c.5356A>C (p.Lys1786Gln)
c.5251A>C (p.Lys1751Gln)
c.5248A>C (p.Lys1750Gln)
n.5380A>C
11g.77203166A>GCA381952341MYO7Ac.5275A>G (p.Lys1759Glu)
c.3116A>G
c.5128A>G (p.Lys1710Glu)
c.2701A>G (p.Lys901Glu)
c.5161A>G (p.Lys1721Glu)
n.2811A>G
c.5158A>G (p.Lys1720Glu)
c.5266A>G (p.Lys1756Glu)
c.5269A>G (p.Lys1757Glu)
c.5242A>G (p.Lys1748Glu)
c.5179A>G (p.Lys1727Glu)
c.5050A>G (p.Lys1684Glu)
c.5038A>G (p.Lys1680Glu)
c.5011A>G (p.Lys1671Glu)
n.5595A>G
n.5597A>G
c.5365A>G (p.Lys1789Glu)
c.5359A>G (p.Lys1787Glu)
c.5356A>G (p.Lys1786Glu)
c.5251A>G (p.Lys1751Glu)
c.5248A>G (p.Lys1750Glu)
n.5380A>G
 dbSNP gnomAD v3 gnomAD v4
11g.77203166A>TCA381952343MYO7Ac.5275A>T (p.Lys1759Ter)
c.3116A>T
c.5128A>T (p.Lys1710Ter)
c.2701A>T (p.Lys901Ter)
c.5161A>T (p.Lys1721Ter)
n.2811A>T
c.5158A>T (p.Lys1720Ter)
c.5266A>T (p.Lys1756Ter)
c.5269A>T (p.Lys1757Ter)
c.5242A>T (p.Lys1748Ter)
c.5179A>T (p.Lys1727Ter)
c.5050A>T (p.Lys1684Ter)
c.5038A>T (p.Lys1680Ter)
c.5011A>T (p.Lys1671Ter)
n.5595A>T
n.5597A>T
c.5365A>T (p.Lys1789Ter)
c.5359A>T (p.Lys1787Ter)
c.5356A>T (p.Lys1786Ter)
c.5251A>T (p.Lys1751Ter)
c.5248A>T (p.Lys1750Ter)
n.5380A>T
 ClinVar
11g.77203167A=CA1984125708MYO7Ac.5276A= (p.Lys1759=)
c.3117A=
c.5129A= (p.Lys1710=)
c.2702A= (p.Lys901=)
c.5162A= (p.Lys1721=)
n.2812A=
c.5159A= (p.Lys1720=)
c.5267A= (p.Lys1756=)
c.5270A= (p.Lys1757=)
c.5243A= (p.Lys1748=)
c.5180A= (p.Lys1727=)
c.5051A= (p.Lys1684=)
c.5039A= (p.Lys1680=)
c.5012A= (p.Lys1671=)
n.5596A=
n.5598A=
c.5366A= (p.Lys1789=)
c.5360A= (p.Lys1787=)
c.5357A= (p.Lys1786=)
c.5252A= (p.Lys1751=)
c.5249A= (p.Lys1750=)
n.5381A=
11g.77203167A>CCA381952345MYO7Ac.5276A>C (p.Lys1759Thr)
c.3117A>C
c.5129A>C (p.Lys1710Thr)
c.2702A>C (p.Lys901Thr)
c.5162A>C (p.Lys1721Thr)
n.2812A>C
c.5159A>C (p.Lys1720Thr)
c.5267A>C (p.Lys1756Thr)
c.5270A>C (p.Lys1757Thr)
c.5243A>C (p.Lys1748Thr)
c.5180A>C (p.Lys1727Thr)
c.5051A>C (p.Lys1684Thr)
c.5039A>C (p.Lys1680Thr)
c.5012A>C (p.Lys1671Thr)
n.5596A>C
n.5598A>C
c.5366A>C (p.Lys1789Thr)
c.5360A>C (p.Lys1787Thr)
c.5357A>C (p.Lys1786Thr)
c.5252A>C (p.Lys1751Thr)
c.5249A>C (p.Lys1750Thr)
n.5381A>C
11g.77203167A>GCA381952347MYO7Ac.5276A>G (p.Lys1759Arg)
c.3117A>G
c.5129A>G (p.Lys1710Arg)
c.2702A>G (p.Lys901Arg)
c.5162A>G (p.Lys1721Arg)
n.2812A>G
c.5159A>G (p.Lys1720Arg)
c.5267A>G (p.Lys1756Arg)
c.5270A>G (p.Lys1757Arg)
c.5243A>G (p.Lys1748Arg)
c.5180A>G (p.Lys1727Arg)
c.5051A>G (p.Lys1684Arg)
c.5039A>G (p.Lys1680Arg)
c.5012A>G (p.Lys1671Arg)
n.5596A>G
n.5598A>G
c.5366A>G (p.Lys1789Arg)
c.5360A>G (p.Lys1787Arg)
c.5357A>G (p.Lys1786Arg)
c.5252A>G (p.Lys1751Arg)
c.5249A>G (p.Lys1750Arg)
n.5381A>G
11g.77203167A>TCA381952348MYO7Ac.5276A>T (p.Lys1759Met)
c.3117A>T
c.5129A>T (p.Lys1710Met)
c.2702A>T (p.Lys901Met)
c.5162A>T (p.Lys1721Met)
n.2812A>T
c.5159A>T (p.Lys1720Met)
c.5267A>T (p.Lys1756Met)
c.5270A>T (p.Lys1757Met)
c.5243A>T (p.Lys1748Met)
c.5180A>T (p.Lys1727Met)
c.5051A>T (p.Lys1684Met)
c.5039A>T (p.Lys1680Met)
c.5012A>T (p.Lys1671Met)
n.5596A>T
n.5598A>T
c.5366A>T (p.Lys1789Met)
c.5360A>T (p.Lys1787Met)
c.5357A>T (p.Lys1786Met)
c.5252A>T (p.Lys1751Met)
c.5249A>T (p.Lys1750Met)
n.5381A>T
 dbSNP
11g.77203168G>ACA475796962MYO7Ac.5277G>A (p.Lys1759=)
c.3118G>A
c.5130G>A (p.Lys1710=)
c.2703G>A (p.Lys901=)
c.5163G>A (p.Lys1721=)
n.2813G>A
c.5160G>A (p.Lys1720=)
c.5268G>A (p.Lys1756=)
c.5271G>A (p.Lys1757=)
c.5244G>A (p.Lys1748=)
c.5181G>A (p.Lys1727=)
c.5052G>A (p.Lys1684=)
c.5040G>A (p.Lys1680=)
c.5013G>A (p.Lys1671=)
n.5597G>A
n.5599G>A
c.5367G>A (p.Lys1789=)
c.5361G>A (p.Lys1787=)
c.5358G>A (p.Lys1786=)
c.5253G>A (p.Lys1751=)
c.5250G>A (p.Lys1750=)
n.5382G>A
 gnomAD v4
11g.77203168G>CCA381952350MYO7Ac.5277G>C (p.Lys1759Asn)
c.3118G>C
c.5130G>C (p.Lys1710Asn)
c.2703G>C (p.Lys901Asn)
c.5163G>C (p.Lys1721Asn)
n.2813G>C
c.5160G>C (p.Lys1720Asn)
c.5268G>C (p.Lys1756Asn)
c.5271G>C (p.Lys1757Asn)
c.5244G>C (p.Lys1748Asn)
c.5181G>C (p.Lys1727Asn)
c.5052G>C (p.Lys1684Asn)
c.5040G>C (p.Lys1680Asn)
c.5013G>C (p.Lys1671Asn)
n.5597G>C
n.5599G>C
c.5367G>C (p.Lys1789Asn)
c.5361G>C (p.Lys1787Asn)
c.5358G>C (p.Lys1786Asn)
c.5253G>C (p.Lys1751Asn)
c.5250G>C (p.Lys1750Asn)
n.5382G>C
11g.77203168G=CA1984125709MYO7Ac.5277G= (p.Lys1759=)
c.3118G=
c.5130G= (p.Lys1710=)
c.2703G= (p.Lys901=)
c.5163G= (p.Lys1721=)
n.2813G=
c.5160G= (p.Lys1720=)
c.5268G= (p.Lys1756=)
c.5271G= (p.Lys1757=)
c.5244G= (p.Lys1748=)
c.5181G= (p.Lys1727=)
c.5052G= (p.Lys1684=)
c.5040G= (p.Lys1680=)
c.5013G= (p.Lys1671=)
n.5597G=
n.5599G=
c.5367G= (p.Lys1789=)
c.5361G= (p.Lys1787=)
c.5358G= (p.Lys1786=)
c.5253G= (p.Lys1751=)
c.5250G= (p.Lys1750=)
n.5382G=
11g.77203168G>TCA381952352MYO7Ac.5277G>T (p.Lys1759Asn)
c.3118G>T
c.5130G>T (p.Lys1710Asn)
c.2703G>T (p.Lys901Asn)
c.5163G>T (p.Lys1721Asn)
n.2813G>T
c.5160G>T (p.Lys1720Asn)
c.5268G>T (p.Lys1756Asn)
c.5271G>T (p.Lys1757Asn)
c.5244G>T (p.Lys1748Asn)
c.5181G>T (p.Lys1727Asn)
c.5052G>T (p.Lys1684Asn)
c.5040G>T (p.Lys1680Asn)
c.5013G>T (p.Lys1671Asn)
n.5597G>T
n.5599G>T
c.5367G>T (p.Lys1789Asn)
c.5361G>T (p.Lys1787Asn)
c.5358G>T (p.Lys1786Asn)
c.5253G>T (p.Lys1751Asn)
c.5250G>T (p.Lys1750Asn)
n.5382G>T
11g.77203169C>ACA381952353MYO7Ac.5278C>A (p.Leu1760Ile)
c.3119C>A
c.5131C>A (p.Leu1711Ile)
c.2704C>A (p.Leu902Ile)
c.5164C>A (p.Leu1722Ile)
n.2814C>A
c.5161C>A (p.Leu1721Ile)
c.5269C>A (p.Leu1757Ile)
c.5272C>A (p.Leu1758Ile)
c.5245C>A (p.Leu1749Ile)
c.5182C>A (p.Leu1728Ile)
c.5053C>A (p.Leu1685Ile)
c.5041C>A (p.Leu1681Ile)
c.5014C>A (p.Leu1672Ile)
n.5598C>A
n.5600C>A
c.5368C>A (p.Leu1790Ile)
c.5362C>A (p.Leu1788Ile)
c.5359C>A (p.Leu1787Ile)
c.5254C>A (p.Leu1752Ile)
c.5251C>A (p.Leu1751Ile)
n.5383C>A
 gnomAD v4
11g.77203169C=CA1984125710MYO7Ac.5278C= (p.Leu1760=)
c.3119C=
c.5131C= (p.Leu1711=)
c.2704C= (p.Leu902=)
c.5164C= (p.Leu1722=)
n.2814C=
c.5161C= (p.Leu1721=)
c.5269C= (p.Leu1757=)
c.5272C= (p.Leu1758=)
c.5245C= (p.Leu1749=)
c.5182C= (p.Leu1728=)
c.5053C= (p.Leu1685=)
c.5041C= (p.Leu1681=)
c.5014C= (p.Leu1672=)
n.5598C=
n.5600C=
c.5368C= (p.Leu1790=)
c.5362C= (p.Leu1788=)
c.5359C= (p.Leu1787=)
c.5254C= (p.Leu1752=)
c.5251C= (p.Leu1751=)
n.5383C=
11g.77203169C>GCA381952355MYO7Ac.5278C>G (p.Leu1760Val)
c.3119C>G
c.5131C>G (p.Leu1711Val)
c.2704C>G (p.Leu902Val)
c.5164C>G (p.Leu1722Val)
n.2814C>G
c.5161C>G (p.Leu1721Val)
c.5269C>G (p.Leu1757Val)
c.5272C>G (p.Leu1758Val)
c.5245C>G (p.Leu1749Val)
c.5182C>G (p.Leu1728Val)
c.5053C>G (p.Leu1685Val)
c.5041C>G (p.Leu1681Val)
c.5014C>G (p.Leu1672Val)
n.5598C>G
n.5600C>G
c.5368C>G (p.Leu1790Val)
c.5362C>G (p.Leu1788Val)
c.5359C>G (p.Leu1787Val)
c.5254C>G (p.Leu1752Val)
c.5251C>G (p.Leu1751Val)
n.5383C>G
11g.77203169C>TCA224852707MYO7Ac.5278C>T (p.Leu1760Phe)
c.3119C>T
c.5131C>T (p.Leu1711Phe)
c.2704C>T (p.Leu902Phe)
c.5164C>T (p.Leu1722Phe)
n.2814C>T
c.5161C>T (p.Leu1721Phe)
c.5269C>T (p.Leu1757Phe)
c.5272C>T (p.Leu1758Phe)
c.5245C>T (p.Leu1749Phe)
c.5182C>T (p.Leu1728Phe)
c.5053C>T (p.Leu1685Phe)
c.5041C>T (p.Leu1681Phe)
c.5014C>T (p.Leu1672Phe)
n.5598C>T
n.5600C>T
c.5368C>T (p.Leu1790Phe)
c.5362C>T (p.Leu1788Phe)
c.5359C>T (p.Leu1787Phe)
c.5254C>T (p.Leu1752Phe)
c.5251C>T (p.Leu1751Phe)
n.5383C>T
 dbSNP gnomAD v4
11g.77203171_77203173dupCA680420820MYO7Ac.5280_5282dup (p.Leu1761_Gly1762insLeu)
c.3121_3123dup
c.5133_5135dup (p.Leu1712_Gly1713insLeu)
c.2706_2708dup (p.Leu903_Gly904insLeu)
c.5166_5168dup (p.Leu1723_Gly1724insLeu)
n.2816_2818dup
c.5163_5165dup (p.Leu1722_Gly1723insLeu)
c.5271_5273dup (p.Leu1758_Gly1759insLeu)
c.5274_5276dup (p.Leu1759_Gly1760insLeu)
c.5247_5249dup (p.Leu1750_Gly1751insLeu)
c.5184_5186dup (p.Leu1729_Gly1730insLeu)
c.5055_5057dup (p.Leu1686_Gly1687insLeu)
c.5043_5045dup (p.Leu1682_Gly1683insLeu)
c.5016_5018dup (p.Leu1673_Gly1674insLeu)
n.5600_5602dup
n.5602_5604dup
c.5370_5372dup (p.Leu1791_Gly1792insLeu)
c.5364_5366dup (p.Leu1789_Gly1790insLeu)
c.5361_5363dup (p.Leu1788_Gly1789insLeu)
c.5256_5258dup (p.Leu1753_Gly1754insLeu)
c.5253_5255dup (p.Leu1752_Gly1753insLeu)
n.5385_5387dup
 dbSNP
11g.77203170T>ACA381952359MYO7Ac.5279T>A (p.Leu1760His)
c.3120T>A
c.5132T>A (p.Leu1711His)
c.2705T>A (p.Leu902His)
c.5165T>A (p.Leu1722His)
n.2815T>A
c.5162T>A (p.Leu1721His)
c.5270T>A (p.Leu1757His)
c.5273T>A (p.Leu1758His)
c.5246T>A (p.Leu1749His)
c.5183T>A (p.Leu1728His)
c.5054T>A (p.Leu1685His)
c.5042T>A (p.Leu1681His)
c.5015T>A (p.Leu1672His)
n.5599T>A
n.5601T>A
c.5369T>A (p.Leu1790His)
c.5363T>A (p.Leu1788His)
c.5360T>A (p.Leu1787His)
c.5255T>A (p.Leu1752His)
c.5252T>A (p.Leu1751His)
n.5384T>A
11g.77203170T>CCA381952361MYO7Ac.5279T>C (p.Leu1760Pro)
c.3120T>C
c.5132T>C (p.Leu1711Pro)
c.2705T>C (p.Leu902Pro)
c.5165T>C (p.Leu1722Pro)
n.2815T>C
c.5162T>C (p.Leu1721Pro)
c.5270T>C (p.Leu1757Pro)
c.5273T>C (p.Leu1758Pro)
c.5246T>C (p.Leu1749Pro)
c.5183T>C (p.Leu1728Pro)
c.5054T>C (p.Leu1685Pro)
c.5042T>C (p.Leu1681Pro)
c.5015T>C (p.Leu1672Pro)
n.5599T>C
n.5601T>C
c.5369T>C (p.Leu1790Pro)
c.5363T>C (p.Leu1788Pro)
c.5360T>C (p.Leu1787Pro)
c.5255T>C (p.Leu1752Pro)
c.5252T>C (p.Leu1751Pro)
n.5384T>C
 gnomAD v4
11g.77203170T>GCA381952358MYO7Ac.5279T>G (p.Leu1760Arg)
c.3120T>G
c.5132T>G (p.Leu1711Arg)
c.2705T>G (p.Leu902Arg)
c.5165T>G (p.Leu1722Arg)
n.2815T>G
c.5162T>G (p.Leu1721Arg)
c.5270T>G (p.Leu1757Arg)
c.5273T>G (p.Leu1758Arg)
c.5246T>G (p.Leu1749Arg)
c.5183T>G (p.Leu1728Arg)
c.5054T>G (p.Leu1685Arg)
c.5042T>G (p.Leu1681Arg)
c.5015T>G (p.Leu1672Arg)
n.5599T>G
n.5601T>G
c.5369T>G (p.Leu1790Arg)
c.5363T>G (p.Leu1788Arg)
c.5360T>G (p.Leu1787Arg)
c.5255T>G (p.Leu1752Arg)
c.5252T>G (p.Leu1751Arg)
n.5384T>G
11g.77203171C>ACA475796963MYO7Ac.5280C>A (p.Leu1760=)
c.3121C>A
c.5133C>A (p.Leu1711=)
c.2706C>A (p.Leu902=)
c.5166C>A (p.Leu1722=)
n.2816C>A
c.5163C>A (p.Leu1721=)
c.5271C>A (p.Leu1757=)
c.5274C>A (p.Leu1758=)
c.5247C>A (p.Leu1749=)
c.5184C>A (p.Leu1728=)
c.5055C>A (p.Leu1685=)
c.5043C>A (p.Leu1681=)
c.5016C>A (p.Leu1672=)
n.5600C>A
n.5602C>A
c.5370C>A (p.Leu1790=)
c.5364C>A (p.Leu1788=)
c.5361C>A (p.Leu1787=)
c.5256C>A (p.Leu1752=)
c.5253C>A (p.Leu1751=)
n.5385C>A
 gnomAD v4
11g.77203171C=CA1984125711MYO7Ac.5280C= (p.Leu1760=)
c.3121C=
c.5133C= (p.Leu1711=)
c.2706C= (p.Leu902=)
c.5166C= (p.Leu1722=)
n.2816C=
c.5163C= (p.Leu1721=)
c.5271C= (p.Leu1757=)
c.5274C= (p.Leu1758=)
c.5247C= (p.Leu1749=)
c.5184C= (p.Leu1728=)
c.5055C= (p.Leu1685=)
c.5043C= (p.Leu1681=)
c.5016C= (p.Leu1672=)
n.5600C=
n.5602C=
c.5370C= (p.Leu1790=)
c.5364C= (p.Leu1788=)
c.5361C= (p.Leu1787=)
c.5256C= (p.Leu1752=)
c.5253C= (p.Leu1751=)
n.5385C=
11g.77203171C>GCA475796964MYO7Ac.5280C>G (p.Leu1760=)
c.3121C>G
c.5133C>G (p.Leu1711=)
c.2706C>G (p.Leu902=)
c.5166C>G (p.Leu1722=)
n.2816C>G
c.5163C>G (p.Leu1721=)
c.5271C>G (p.Leu1757=)
c.5274C>G (p.Leu1758=)
c.5247C>G (p.Leu1749=)
c.5184C>G (p.Leu1728=)
c.5055C>G (p.Leu1685=)
c.5043C>G (p.Leu1681=)
c.5016C>G (p.Leu1672=)
n.5600C>G
n.5602C>G
c.5370C>G (p.Leu1790=)
c.5364C>G (p.Leu1788=)
c.5361C>G (p.Leu1787=)
c.5256C>G (p.Leu1752=)
c.5253C>G (p.Leu1751=)
n.5385C>G
11g.77203171C>TCA475796965MYO7Ac.5280C>T (p.Leu1760=)
c.3121C>T
c.5133C>T (p.Leu1711=)
c.2706C>T (p.Leu902=)
c.5166C>T (p.Leu1722=)
n.2816C>T
c.5163C>T (p.Leu1721=)
c.5271C>T (p.Leu1757=)
c.5274C>T (p.Leu1758=)
c.5247C>T (p.Leu1749=)
c.5184C>T (p.Leu1728=)
c.5055C>T (p.Leu1685=)
c.5043C>T (p.Leu1681=)
c.5016C>T (p.Leu1672=)
n.5600C>T
n.5602C>T
c.5370C>T (p.Leu1790=)
c.5364C>T (p.Leu1788=)
c.5361C>T (p.Leu1787=)
c.5256C>T (p.Leu1752=)
c.5253C>T (p.Leu1751=)
n.5385C>T
 ClinVar dbSNP gnomAD v4
11g.77203172C>ACA381952365MYO7Ac.5281C>A (p.Leu1761Met)
c.3122C>A
c.5134C>A (p.Leu1712Met)
c.2707C>A (p.Leu903Met)
c.5167C>A (p.Leu1723Met)
n.2817C>A
c.5164C>A (p.Leu1722Met)
c.5272C>A (p.Leu1758Met)
c.5275C>A (p.Leu1759Met)
c.5248C>A (p.Leu1750Met)
c.5185C>A (p.Leu1729Met)
c.5056C>A (p.Leu1686Met)
c.5044C>A (p.Leu1682Met)
c.5017C>A (p.Leu1673Met)
n.5601C>A
n.5603C>A
c.5371C>A (p.Leu1791Met)
c.5365C>A (p.Leu1789Met)
c.5362C>A (p.Leu1788Met)
c.5257C>A (p.Leu1753Met)
c.5254C>A (p.Leu1752Met)
n.5386C>A
11g.77203172C>GCA381952363MYO7Ac.5281C>G (p.Leu1761Val)
c.3122C>G
c.5134C>G (p.Leu1712Val)
c.2707C>G (p.Leu903Val)
c.5167C>G (p.Leu1723Val)
n.2817C>G
c.5164C>G (p.Leu1722Val)
c.5272C>G (p.Leu1758Val)
c.5275C>G (p.Leu1759Val)
c.5248C>G (p.Leu1750Val)
c.5185C>G (p.Leu1729Val)
c.5056C>G (p.Leu1686Val)
c.5044C>G (p.Leu1682Val)
c.5017C>G (p.Leu1673Val)
n.5601C>G
n.5603C>G
c.5371C>G (p.Leu1791Val)
c.5365C>G (p.Leu1789Val)
c.5362C>G (p.Leu1788Val)
c.5257C>G (p.Leu1753Val)
c.5254C>G (p.Leu1752Val)
n.5386C>G
 gnomAD v4
11g.77203172C>TCA475796966MYO7Ac.5281C>T (p.Leu1761=)
c.3122C>T
c.5134C>T (p.Leu1712=)
c.2707C>T (p.Leu903=)
c.5167C>T (p.Leu1723=)
n.2817C>T
c.5164C>T (p.Leu1722=)
c.5272C>T (p.Leu1758=)
c.5275C>T (p.Leu1759=)
c.5248C>T (p.Leu1750=)
c.5185C>T (p.Leu1729=)
c.5056C>T (p.Leu1686=)
c.5044C>T (p.Leu1682=)
c.5017C>T (p.Leu1673=)
n.5601C>T
n.5603C>T
c.5371C>T (p.Leu1791=)
c.5365C>T (p.Leu1789=)
c.5362C>T (p.Leu1788=)
c.5257C>T (p.Leu1753=)
c.5254C>T (p.Leu1752=)
n.5386C>T
 ClinVar
11g.77203173T>ACA381952372MYO7Ac.5282T>A (p.Leu1761Gln)
c.3123T>A
c.5135T>A (p.Leu1712Gln)
c.2708T>A (p.Leu903Gln)
c.5168T>A (p.Leu1723Gln)
n.2818T>A
c.5165T>A (p.Leu1722Gln)
c.5273T>A (p.Leu1758Gln)
c.5276T>A (p.Leu1759Gln)
c.5249T>A (p.Leu1750Gln)
c.5186T>A (p.Leu1729Gln)
c.5057T>A (p.Leu1686Gln)
c.5045T>A (p.Leu1682Gln)
c.5018T>A (p.Leu1673Gln)
n.5602T>A
n.5604T>A
c.5372T>A (p.Leu1791Gln)
c.5366T>A (p.Leu1789Gln)
c.5363T>A (p.Leu1788Gln)
c.5258T>A (p.Leu1753Gln)
c.5255T>A (p.Leu1752Gln)
n.5387T>A
11g.77203173T>CCA381952366MYO7Ac.5282T>C (p.Leu1761Pro)
c.3123T>C
c.5135T>C (p.Leu1712Pro)
c.2708T>C (p.Leu903Pro)
c.5168T>C (p.Leu1723Pro)
n.2818T>C
c.5165T>C (p.Leu1722Pro)
c.5273T>C (p.Leu1758Pro)
c.5276T>C (p.Leu1759Pro)
c.5249T>C (p.Leu1750Pro)
c.5186T>C (p.Leu1729Pro)
c.5057T>C (p.Leu1686Pro)
c.5045T>C (p.Leu1682Pro)
c.5018T>C (p.Leu1673Pro)
n.5602T>C
n.5604T>C
c.5372T>C (p.Leu1791Pro)
c.5366T>C (p.Leu1789Pro)
c.5363T>C (p.Leu1788Pro)
c.5258T>C (p.Leu1753Pro)
c.5255T>C (p.Leu1752Pro)
n.5387T>C
 ClinVar dbSNP gnomAD v4
11g.77203173T>GCA381952370MYO7Ac.5282T>G (p.Leu1761Arg)
c.3123T>G
c.5135T>G (p.Leu1712Arg)
c.2708T>G (p.Leu903Arg)
c.5168T>G (p.Leu1723Arg)
n.2818T>G
c.5165T>G (p.Leu1722Arg)
c.5273T>G (p.Leu1758Arg)
c.5276T>G (p.Leu1759Arg)
c.5249T>G (p.Leu1750Arg)
c.5186T>G (p.Leu1729Arg)
c.5057T>G (p.Leu1686Arg)
c.5045T>G (p.Leu1682Arg)
c.5018T>G (p.Leu1673Arg)
n.5602T>G
n.5604T>G
c.5372T>G (p.Leu1791Arg)
c.5366T>G (p.Leu1789Arg)
c.5363T>G (p.Leu1788Arg)
c.5258T>G (p.Leu1753Arg)
c.5255T>G (p.Leu1752Arg)
n.5387T>G
11g.77203174G>ACA475796967MYO7Ac.5283G>A (p.Leu1761=)
c.3124G>A
c.5136G>A (p.Leu1712=)
c.2709G>A (p.Leu903=)
c.5169G>A (p.Leu1723=)
n.2819G>A
c.5166G>A (p.Leu1722=)
c.5274G>A (p.Leu1758=)
c.5277G>A (p.Leu1759=)
c.5250G>A (p.Leu1750=)
c.5187G>A (p.Leu1729=)
c.5058G>A (p.Leu1686=)
c.5046G>A (p.Leu1682=)
c.5019G>A (p.Leu1673=)
n.5603G>A
n.5605G>A
c.5373G>A (p.Leu1791=)
c.5367G>A (p.Leu1789=)
c.5364G>A (p.Leu1788=)
c.5259G>A (p.Leu1753=)
c.5256G>A (p.Leu1752=)
n.5388G>A
 gnomAD v4
11g.77203174G>CCA475796968MYO7Ac.5283G>C (p.Leu1761=)
c.3124G>C
c.5136G>C (p.Leu1712=)
c.2709G>C (p.Leu903=)
c.5169G>C (p.Leu1723=)
n.2819G>C
c.5166G>C (p.Leu1722=)
c.5274G>C (p.Leu1758=)
c.5277G>C (p.Leu1759=)
c.5250G>C (p.Leu1750=)
c.5187G>C (p.Leu1729=)
c.5058G>C (p.Leu1686=)
c.5046G>C (p.Leu1682=)
c.5019G>C (p.Leu1673=)
n.5603G>C
n.5605G>C
c.5373G>C (p.Leu1791=)
c.5367G>C (p.Leu1789=)
c.5364G>C (p.Leu1788=)
c.5259G>C (p.Leu1753=)
c.5256G>C (p.Leu1752=)
n.5388G>C
11g.77203174G=CA1984125712MYO7Ac.5283G= (p.Leu1761=)
c.3124G=
c.5136G= (p.Leu1712=)
c.2709G= (p.Leu903=)
c.5169G= (p.Leu1723=)
n.2819G=
c.5166G= (p.Leu1722=)
c.5274G= (p.Leu1758=)
c.5277G= (p.Leu1759=)
c.5250G= (p.Leu1750=)
c.5187G= (p.Leu1729=)
c.5058G= (p.Leu1686=)
c.5046G= (p.Leu1682=)
c.5019G= (p.Leu1673=)
n.5603G=
n.5605G=
c.5373G= (p.Leu1791=)
c.5367G= (p.Leu1789=)
c.5364G= (p.Leu1788=)
c.5259G= (p.Leu1753=)
c.5256G= (p.Leu1752=)
n.5388G=
11g.77203174G>TCA475796969MYO7Ac.5283G>T (p.Leu1761=)
c.3124G>T
c.5136G>T (p.Leu1712=)
c.2709G>T (p.Leu903=)
c.5169G>T (p.Leu1723=)
n.2819G>T
c.5166G>T (p.Leu1722=)
c.5274G>T (p.Leu1758=)
c.5277G>T (p.Leu1759=)
c.5250G>T (p.Leu1750=)
c.5187G>T (p.Leu1729=)
c.5058G>T (p.Leu1686=)
c.5046G>T (p.Leu1682=)
c.5019G>T (p.Leu1673=)
n.5603G>T
n.5605G>T
c.5373G>T (p.Leu1791=)
c.5367G>T (p.Leu1789=)
c.5364G>T (p.Leu1788=)
c.5259G>T (p.Leu1753=)
c.5256G>T (p.Leu1752=)
n.5388G>T
 dbSNP gnomAD v2 gnomAD v4
11g.77203175G>ACA381952374MYO7Ac.5284G>A (p.Gly1762Ser)
c.3125G>A
c.5137G>A (p.Gly1713Ser)
c.2710G>A (p.Gly904Ser)
c.5170G>A (p.Gly1724Ser)
n.2820G>A
c.5167G>A (p.Gly1723Ser)
c.5275G>A (p.Gly1759Ser)
c.5278G>A (p.Gly1760Ser)
c.5251G>A (p.Gly1751Ser)
c.5188G>A (p.Gly1730Ser)
c.5059G>A (p.Gly1687Ser)
c.5047G>A (p.Gly1683Ser)
c.5020G>A (p.Gly1674Ser)
n.5604G>A
n.5606G>A
c.5374G>A (p.Gly1792Ser)
c.5368G>A (p.Gly1790Ser)
c.5365G>A (p.Gly1789Ser)
c.5260G>A (p.Gly1754Ser)
c.5257G>A (p.Gly1753Ser)
n.5389G>A
 gnomAD v4
11g.77203175G>CCA381952375MYO7Ac.5284G>C (p.Gly1762Arg)
c.3125G>C
c.5137G>C (p.Gly1713Arg)
c.2710G>C (p.Gly904Arg)
c.5170G>C (p.Gly1724Arg)
n.2820G>C
c.5167G>C (p.Gly1723Arg)
c.5275G>C (p.Gly1759Arg)
c.5278G>C (p.Gly1760Arg)
c.5251G>C (p.Gly1751Arg)
c.5188G>C (p.Gly1730Arg)
c.5059G>C (p.Gly1687Arg)
c.5047G>C (p.Gly1683Arg)
c.5020G>C (p.Gly1674Arg)
n.5604G>C
n.5606G>C
c.5374G>C (p.Gly1792Arg)
c.5368G>C (p.Gly1790Arg)
c.5365G>C (p.Gly1789Arg)
c.5260G>C (p.Gly1754Arg)
c.5257G>C (p.Gly1753Arg)
n.5389G>C
11g.77203175G>TCA381952376MYO7Ac.5284G>T (p.Gly1762Cys)
c.3125G>T
c.5137G>T (p.Gly1713Cys)
c.2710G>T (p.Gly904Cys)
c.5170G>T (p.Gly1724Cys)
n.2820G>T
c.5167G>T (p.Gly1723Cys)
c.5275G>T (p.Gly1759Cys)
c.5278G>T (p.Gly1760Cys)
c.5251G>T (p.Gly1751Cys)
c.5188G>T (p.Gly1730Cys)
c.5059G>T (p.Gly1687Cys)
c.5047G>T (p.Gly1683Cys)
c.5020G>T (p.Gly1674Cys)
n.5604G>T
n.5606G>T
c.5374G>T (p.Gly1792Cys)
c.5368G>T (p.Gly1790Cys)
c.5365G>T (p.Gly1789Cys)
c.5260G>T (p.Gly1754Cys)
c.5257G>T (p.Gly1753Cys)
n.5389G>T
 gnomAD v4
11g.77203176G>ACA381952378MYO7Ac.5285G>A (p.Gly1762Asp)
c.3126G>A
c.5138G>A (p.Gly1713Asp)
c.2711G>A (p.Gly904Asp)
c.5171G>A (p.Gly1724Asp)
n.2821G>A
c.5168G>A (p.Gly1723Asp)
c.5276G>A (p.Gly1759Asp)
c.5279G>A (p.Gly1760Asp)
c.5252G>A (p.Gly1751Asp)
c.5189G>A (p.Gly1730Asp)
c.5060G>A (p.Gly1687Asp)
c.5048G>A (p.Gly1683Asp)
c.5021G>A (p.Gly1674Asp)
n.5605G>A
n.5607G>A
c.5375G>A (p.Gly1792Asp)
c.5369G>A (p.Gly1790Asp)
c.5366G>A (p.Gly1789Asp)
c.5261G>A (p.Gly1754Asp)
c.5258G>A (p.Gly1753Asp)
n.5390G>A
 gnomAD v4
11g.77203176G>CCA381952379MYO7Ac.5285G>C (p.Gly1762Ala)
c.3126G>C
c.5138G>C (p.Gly1713Ala)
c.2711G>C (p.Gly904Ala)
c.5171G>C (p.Gly1724Ala)
n.2821G>C
c.5168G>C (p.Gly1723Ala)
c.5276G>C (p.Gly1759Ala)
c.5279G>C (p.Gly1760Ala)
c.5252G>C (p.Gly1751Ala)
c.5189G>C (p.Gly1730Ala)
c.5060G>C (p.Gly1687Ala)
c.5048G>C (p.Gly1683Ala)
c.5021G>C (p.Gly1674Ala)
n.5605G>C
n.5607G>C
c.5375G>C (p.Gly1792Ala)
c.5369G>C (p.Gly1790Ala)
c.5366G>C (p.Gly1789Ala)
c.5261G>C (p.Gly1754Ala)
c.5258G>C (p.Gly1753Ala)
n.5390G>C
 gnomAD v4
11g.77203176G>TCA381952380MYO7Ac.5285G>T (p.Gly1762Val)
c.3126G>T
c.5138G>T (p.Gly1713Val)
c.2711G>T (p.Gly904Val)
c.5171G>T (p.Gly1724Val)
n.2821G>T
c.5168G>T (p.Gly1723Val)
c.5276G>T (p.Gly1759Val)
c.5279G>T (p.Gly1760Val)
c.5252G>T (p.Gly1751Val)
c.5189G>T (p.Gly1730Val)
c.5060G>T (p.Gly1687Val)
c.5048G>T (p.Gly1683Val)
c.5021G>T (p.Gly1674Val)
n.5605G>T
n.5607G>T
c.5375G>T (p.Gly1792Val)
c.5369G>T (p.Gly1790Val)
c.5366G>T (p.Gly1789Val)
c.5261G>T (p.Gly1754Val)
c.5258G>T (p.Gly1753Val)
n.5390G>T
11g.77203177C>ACA475796971MYO7Ac.5286C>A (p.Gly1762=)
c.3127C>A
c.5139C>A (p.Gly1713=)
c.2712C>A (p.Gly904=)
c.5172C>A (p.Gly1724=)
n.2822C>A
c.5169C>A (p.Gly1723=)
c.5277C>A (p.Gly1759=)
c.5280C>A (p.Gly1760=)
c.5253C>A (p.Gly1751=)
c.5190C>A (p.Gly1730=)
c.5061C>A (p.Gly1687=)
c.5049C>A (p.Gly1683=)
c.5022C>A (p.Gly1674=)
n.5606C>A
n.5608C>A
c.5376C>A (p.Gly1792=)
c.5370C>A (p.Gly1790=)
c.5367C>A (p.Gly1789=)
c.5262C>A (p.Gly1754=)
c.5259C>A (p.Gly1753=)
n.5391C>A
 gnomAD v4
11g.77203177C>GCA475796972MYO7Ac.5286C>G (p.Gly1762=)
c.3127C>G
c.5139C>G (p.Gly1713=)
c.2712C>G (p.Gly904=)
c.5172C>G (p.Gly1724=)
n.2822C>G
c.5169C>G (p.Gly1723=)
c.5277C>G (p.Gly1759=)
c.5280C>G (p.Gly1760=)
c.5253C>G (p.Gly1751=)
c.5190C>G (p.Gly1730=)
c.5061C>G (p.Gly1687=)
c.5049C>G (p.Gly1683=)
c.5022C>G (p.Gly1674=)
n.5606C>G
n.5608C>G
c.5376C>G (p.Gly1792=)
c.5370C>G (p.Gly1790=)
c.5367C>G (p.Gly1789=)
c.5262C>G (p.Gly1754=)
c.5259C>G (p.Gly1753=)
n.5391C>G
11g.77203177C>TCA475796970MYO7Ac.5286C>T (p.Gly1762=)
c.3127C>T
c.5139C>T (p.Gly1713=)
c.2712C>T (p.Gly904=)
c.5172C>T (p.Gly1724=)
n.2822C>T
c.5169C>T (p.Gly1723=)
c.5277C>T (p.Gly1759=)
c.5280C>T (p.Gly1760=)
c.5253C>T (p.Gly1751=)
c.5190C>T (p.Gly1730=)
c.5061C>T (p.Gly1687=)
c.5049C>T (p.Gly1683=)
c.5022C>T (p.Gly1674=)
n.5606C>T
n.5608C>T
c.5376C>T (p.Gly1792=)
c.5370C>T (p.Gly1790=)
c.5367C>T (p.Gly1789=)
c.5262C>T (p.Gly1754=)
c.5259C>T (p.Gly1753=)
n.5391C>T
 gnomAD v4
11g.77203178A>CCA381952382MYO7Ac.5287A>C (p.Ser1763Arg)
c.3128A>C
c.5140A>C (p.Ser1714Arg)
c.2713A>C (p.Ser905Arg)
c.5173A>C (p.Ser1725Arg)
n.2823A>C
c.5170A>C (p.Ser1724Arg)
c.5278A>C (p.Ser1760Arg)
c.5281A>C (p.Ser1761Arg)
c.5254A>C (p.Ser1752Arg)
c.5191A>C (p.Ser1731Arg)
c.5062A>C (p.Ser1688Arg)
c.5050A>C (p.Ser1684Arg)
c.5023A>C (p.Ser1675Arg)
n.5607A>C
n.5609A>C
c.5377A>C (p.Ser1793Arg)
c.5371A>C (p.Ser1791Arg)
c.5368A>C (p.Ser1790Arg)
c.5263A>C (p.Ser1755Arg)
c.5260A>C (p.Ser1754Arg)
n.5392A>C
11g.77203178A>GCA381952384MYO7Ac.5287A>G (p.Ser1763Gly)
c.3128A>G
c.5140A>G (p.Ser1714Gly)
c.2713A>G (p.Ser905Gly)
c.5173A>G (p.Ser1725Gly)
n.2823A>G
c.5170A>G (p.Ser1724Gly)
c.5278A>G (p.Ser1760Gly)
c.5281A>G (p.Ser1761Gly)
c.5254A>G (p.Ser1752Gly)
c.5191A>G (p.Ser1731Gly)
c.5062A>G (p.Ser1688Gly)
c.5050A>G (p.Ser1684Gly)
c.5023A>G (p.Ser1675Gly)
n.5607A>G
n.5609A>G
c.5377A>G (p.Ser1793Gly)
c.5371A>G (p.Ser1791Gly)
c.5368A>G (p.Ser1790Gly)
c.5263A>G (p.Ser1755Gly)
c.5260A>G (p.Ser1754Gly)
n.5392A>G
 gnomAD v4
11g.77203178A>TCA381952386MYO7Ac.5287A>T (p.Ser1763Cys)
c.3128A>T
c.5140A>T (p.Ser1714Cys)
c.2713A>T (p.Ser905Cys)
c.5173A>T (p.Ser1725Cys)
n.2823A>T
c.5170A>T (p.Ser1724Cys)
c.5278A>T (p.Ser1760Cys)
c.5281A>T (p.Ser1761Cys)
c.5254A>T (p.Ser1752Cys)
c.5191A>T (p.Ser1731Cys)
c.5062A>T (p.Ser1688Cys)
c.5050A>T (p.Ser1684Cys)
c.5023A>T (p.Ser1675Cys)
n.5607A>T
n.5609A>T
c.5377A>T (p.Ser1793Cys)
c.5371A>T (p.Ser1791Cys)
c.5368A>T (p.Ser1790Cys)
c.5263A>T (p.Ser1755Cys)
c.5260A>T (p.Ser1754Cys)
n.5392A>T
11g.77203179G>ACA381952389MYO7Ac.5288G>A (p.Ser1763Asn)
c.3129G>A
c.5141G>A (p.Ser1714Asn)
c.2714G>A (p.Ser905Asn)
c.5174G>A (p.Ser1725Asn)
n.2824G>A
c.5171G>A (p.Ser1724Asn)
c.5279G>A (p.Ser1760Asn)
c.5282G>A (p.Ser1761Asn)
c.5255G>A (p.Ser1752Asn)
c.5192G>A (p.Ser1731Asn)
c.5063G>A (p.Ser1688Asn)
c.5051G>A (p.Ser1684Asn)
c.5024G>A (p.Ser1675Asn)
n.5608G>A
n.5610G>A
c.5378G>A (p.Ser1793Asn)
c.5372G>A (p.Ser1791Asn)
c.5369G>A (p.Ser1790Asn)
c.5264G>A (p.Ser1755Asn)
c.5261G>A (p.Ser1754Asn)
n.5393G>A
 dbSNP
11g.77203179G>CCA381952390MYO7Ac.5288G>C (p.Ser1763Thr)
c.3129G>C
c.5141G>C (p.Ser1714Thr)
c.2714G>C (p.Ser905Thr)
c.5174G>C (p.Ser1725Thr)
n.2824G>C
c.5171G>C (p.Ser1724Thr)
c.5279G>C (p.Ser1760Thr)
c.5282G>C (p.Ser1761Thr)
c.5255G>C (p.Ser1752Thr)
c.5192G>C (p.Ser1731Thr)
c.5063G>C (p.Ser1688Thr)
c.5051G>C (p.Ser1684Thr)
c.5024G>C (p.Ser1675Thr)
n.5608G>C
n.5610G>C
c.5378G>C (p.Ser1793Thr)
c.5372G>C (p.Ser1791Thr)
c.5369G>C (p.Ser1790Thr)
c.5264G>C (p.Ser1755Thr)
c.5261G>C (p.Ser1754Thr)
n.5393G>C
 gnomAD v4
11g.77203179G=CA1984125713MYO7Ac.5288G= (p.Ser1763=)
c.3129G=
c.5141G= (p.Ser1714=)
c.2714G= (p.Ser905=)
c.5174G= (p.Ser1725=)
n.2824G=
c.5171G= (p.Ser1724=)
c.5279G= (p.Ser1760=)
c.5282G= (p.Ser1761=)
c.5255G= (p.Ser1752=)
c.5192G= (p.Ser1731=)
c.5063G= (p.Ser1688=)
c.5051G= (p.Ser1684=)
c.5024G= (p.Ser1675=)
n.5608G=
n.5610G=
c.5378G= (p.Ser1793=)
c.5372G= (p.Ser1791=)
c.5369G= (p.Ser1790=)
c.5264G= (p.Ser1755=)
c.5261G= (p.Ser1754=)
n.5393G=
11g.77203179G>TCA381952391MYO7Ac.5288G>T (p.Ser1763Ile)
c.3129G>T
c.5141G>T (p.Ser1714Ile)
c.2714G>T (p.Ser905Ile)
c.5174G>T (p.Ser1725Ile)
n.2824G>T
c.5171G>T (p.Ser1724Ile)
c.5279G>T (p.Ser1760Ile)
c.5282G>T (p.Ser1761Ile)
c.5255G>T (p.Ser1752Ile)
c.5192G>T (p.Ser1731Ile)
c.5063G>T (p.Ser1688Ile)
c.5051G>T (p.Ser1684Ile)
c.5024G>T (p.Ser1675Ile)
n.5608G>T
n.5610G>T
c.5378G>T (p.Ser1793Ile)
c.5372G>T (p.Ser1791Ile)
c.5369G>T (p.Ser1790Ile)
c.5264G>T (p.Ser1755Ile)
c.5261G>T (p.Ser1754Ile)
n.5393G>T
 dbSNP
11g.77203180T>ACA381952393MYO7Ac.5289T>A (p.Ser1763Arg)
c.3130T>A
c.5142T>A (p.Ser1714Arg)
c.2715T>A (p.Ser905Arg)
c.5175T>A (p.Ser1725Arg)
n.2825T>A
c.5172T>A (p.Ser1724Arg)
c.5280T>A (p.Ser1760Arg)
c.5283T>A (p.Ser1761Arg)
c.5256T>A (p.Ser1752Arg)
c.5193T>A (p.Ser1731Arg)
c.5064T>A (p.Ser1688Arg)
c.5052T>A (p.Ser1684Arg)
c.5025T>A (p.Ser1675Arg)
n.5609T>A
n.5611T>A
c.5379T>A (p.Ser1793Arg)
c.5373T>A (p.Ser1791Arg)
c.5370T>A (p.Ser1790Arg)
c.5265T>A (p.Ser1755Arg)
c.5262T>A (p.Ser1754Arg)
n.5394T>A
11g.77203180T>CCA475796980MYO7Ac.5289T>C (p.Ser1763=)
c.3130T>C
c.5142T>C (p.Ser1714=)
c.2715T>C (p.Ser905=)
c.5175T>C (p.Ser1725=)
n.2825T>C
c.5172T>C (p.Ser1724=)
c.5280T>C (p.Ser1760=)
c.5283T>C (p.Ser1761=)
c.5256T>C (p.Ser1752=)
c.5193T>C (p.Ser1731=)
c.5064T>C (p.Ser1688=)
c.5052T>C (p.Ser1684=)
c.5025T>C (p.Ser1675=)
n.5609T>C
n.5611T>C
c.5379T>C (p.Ser1793=)
c.5373T>C (p.Ser1791=)
c.5370T>C (p.Ser1790=)
c.5265T>C (p.Ser1755=)
c.5262T>C (p.Ser1754=)
n.5394T>C
11g.77203180T>GCA6198664MYO7Ac.5289T>G (p.Ser1763Arg)
c.3130T>G
c.5142T>G (p.Ser1714Arg)
c.2715T>G (p.Ser905Arg)
c.5175T>G (p.Ser1725Arg)
n.2825T>G
c.5172T>G (p.Ser1724Arg)
c.5280T>G (p.Ser1760Arg)
c.5283T>G (p.Ser1761Arg)
c.5256T>G (p.Ser1752Arg)
c.5193T>G (p.Ser1731Arg)
c.5064T>G (p.Ser1688Arg)
c.5052T>G (p.Ser1684Arg)
c.5025T>G (p.Ser1675Arg)
n.5609T>G
n.5611T>G
c.5379T>G (p.Ser1793Arg)
c.5373T>G (p.Ser1791Arg)
c.5370T>G (p.Ser1790Arg)
c.5265T>G (p.Ser1755Arg)
c.5262T>G (p.Ser1754Arg)
n.5394T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77203180T=CA1984125714MYO7Ac.5289T= (p.Ser1763=)
c.3130T=
c.5142T= (p.Ser1714=)
c.2715T= (p.Ser905=)
c.5175T= (p.Ser1725=)
n.2825T=
c.5172T= (p.Ser1724=)
c.5280T= (p.Ser1760=)
c.5283T= (p.Ser1761=)
c.5256T= (p.Ser1752=)
c.5193T= (p.Ser1731=)
c.5064T= (p.Ser1688=)
c.5052T= (p.Ser1684=)
c.5025T= (p.Ser1675=)
n.5609T=
n.5611T=
c.5379T= (p.Ser1793=)
c.5373T= (p.Ser1791=)
c.5370T= (p.Ser1790=)
c.5265T= (p.Ser1755=)
c.5262T= (p.Ser1754=)
n.5394T=
11g.77203181G>ACA381952396MYO7Ac.5290G>A (p.Glu1764Lys)
c.3131G>A
c.5143G>A (p.Glu1715Lys)
c.2716G>A (p.Glu906Lys)
c.5176G>A (p.Glu1726Lys)
n.2826G>A
c.5173G>A (p.Glu1725Lys)
c.5281G>A (p.Glu1761Lys)
c.5284G>A (p.Glu1762Lys)
c.5257G>A (p.Glu1753Lys)
c.5194G>A (p.Glu1732Lys)
c.5065G>A (p.Glu1689Lys)
c.5053G>A (p.Glu1685Lys)
c.5026G>A (p.Glu1676Lys)
n.5610G>A
n.5612G>A
c.5380G>A (p.Glu1794Lys)
c.5374G>A (p.Glu1792Lys)
c.5371G>A (p.Glu1791Lys)
c.5266G>A (p.Glu1756Lys)
c.5263G>A (p.Glu1755Lys)
n.5395G>A
 gnomAD v4
11g.77203181G>CCA381952398MYO7Ac.5290G>C (p.Glu1764Gln)
c.3131G>C
c.5143G>C (p.Glu1715Gln)
c.2716G>C (p.Glu906Gln)
c.5176G>C (p.Glu1726Gln)
n.2826G>C
c.5173G>C (p.Glu1725Gln)
c.5281G>C (p.Glu1761Gln)
c.5284G>C (p.Glu1762Gln)
c.5257G>C (p.Glu1753Gln)
c.5194G>C (p.Glu1732Gln)
c.5065G>C (p.Glu1689Gln)
c.5053G>C (p.Glu1685Gln)
c.5026G>C (p.Glu1676Gln)
n.5610G>C
n.5612G>C
c.5380G>C (p.Glu1794Gln)
c.5374G>C (p.Glu1792Gln)
c.5371G>C (p.Glu1791Gln)
c.5266G>C (p.Glu1756Gln)
c.5263G>C (p.Glu1755Gln)
n.5395G>C
 gnomAD v4
11g.77203181G>TCA381952399MYO7Ac.5290G>T (p.Glu1764Ter)
c.3131G>T
c.5143G>T (p.Glu1715Ter)
c.2716G>T (p.Glu906Ter)
c.5176G>T (p.Glu1726Ter)
n.2826G>T
c.5173G>T (p.Glu1725Ter)
c.5281G>T (p.Glu1761Ter)
c.5284G>T (p.Glu1762Ter)
c.5257G>T (p.Glu1753Ter)
c.5194G>T (p.Glu1732Ter)
c.5065G>T (p.Glu1689Ter)
c.5053G>T (p.Glu1685Ter)
c.5026G>T (p.Glu1676Ter)
n.5610G>T
n.5612G>T
c.5380G>T (p.Glu1794Ter)
c.5374G>T (p.Glu1792Ter)
c.5371G>T (p.Glu1791Ter)
c.5266G>T (p.Glu1756Ter)
c.5263G>T (p.Glu1755Ter)
n.5395G>T
 gnomAD v4
11g.77203182A=CA1984125715MYO7Ac.5291A= (p.Glu1764=)
c.3132A=
c.5144A= (p.Glu1715=)
c.2717A= (p.Glu906=)
c.5177A= (p.Glu1726=)
n.2827A=
c.5174A= (p.Glu1725=)
c.5282A= (p.Glu1761=)
c.5285A= (p.Glu1762=)
c.5258A= (p.Glu1753=)
c.5195A= (p.Glu1732=)
c.5066A= (p.Glu1689=)
c.5054A= (p.Glu1685=)
c.5027A= (p.Glu1676=)
n.5611A=
n.5613A=
c.5381A= (p.Glu1794=)
c.5375A= (p.Glu1792=)
c.5372A= (p.Glu1791=)
c.5267A= (p.Glu1756=)
c.5264A= (p.Glu1755=)
n.5396A=
11g.77203182A>CCA381952400MYO7Ac.5291A>C (p.Glu1764Ala)
c.3132A>C
c.5144A>C (p.Glu1715Ala)
c.2717A>C (p.Glu906Ala)
c.5177A>C (p.Glu1726Ala)
n.2827A>C
c.5174A>C (p.Glu1725Ala)
c.5282A>C (p.Glu1761Ala)
c.5285A>C (p.Glu1762Ala)
c.5258A>C (p.Glu1753Ala)
c.5195A>C (p.Glu1732Ala)
c.5066A>C (p.Glu1689Ala)
c.5054A>C (p.Glu1685Ala)
c.5027A>C (p.Glu1676Ala)
n.5611A>C
n.5613A>C
c.5381A>C (p.Glu1794Ala)
c.5375A>C (p.Glu1792Ala)
c.5372A>C (p.Glu1791Ala)
c.5267A>C (p.Glu1756Ala)
c.5264A>C (p.Glu1755Ala)
n.5396A>C
11g.77203182A>GCA6198665MYO7Ac.5291A>G (p.Glu1764Gly)
c.3132A>G
c.5144A>G (p.Glu1715Gly)
c.2717A>G (p.Glu906Gly)
c.5177A>G (p.Glu1726Gly)
n.2827A>G
c.5174A>G (p.Glu1725Gly)
c.5282A>G (p.Glu1761Gly)
c.5285A>G (p.Glu1762Gly)
c.5258A>G (p.Glu1753Gly)
c.5195A>G (p.Glu1732Gly)
c.5066A>G (p.Glu1689Gly)
c.5054A>G (p.Glu1685Gly)
c.5027A>G (p.Glu1676Gly)
n.5611A>G
n.5613A>G
c.5381A>G (p.Glu1794Gly)
c.5375A>G (p.Glu1792Gly)
c.5372A>G (p.Glu1791Gly)
c.5267A>G (p.Glu1756Gly)
c.5264A>G (p.Glu1755Gly)
n.5396A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77203182A>TCA381952403MYO7Ac.5291A>T (p.Glu1764Val)
c.3132A>T
c.5144A>T (p.Glu1715Val)
c.2717A>T (p.Glu906Val)
c.5177A>T (p.Glu1726Val)
n.2827A>T
c.5174A>T (p.Glu1725Val)
c.5282A>T (p.Glu1761Val)
c.5285A>T (p.Glu1762Val)
c.5258A>T (p.Glu1753Val)
c.5195A>T (p.Glu1732Val)
c.5066A>T (p.Glu1689Val)
c.5054A>T (p.Glu1685Val)
c.5027A>T (p.Glu1676Val)
n.5611A>T
n.5613A>T
c.5381A>T (p.Glu1794Val)
c.5375A>T (p.Glu1792Val)
c.5372A>T (p.Glu1791Val)
c.5267A>T (p.Glu1756Val)
c.5264A>T (p.Glu1755Val)
n.5396A>T
 gnomAD v4
11g.77203183G>ACA475796981MYO7Ac.5292G>A (p.Glu1764=)
c.3133G>A
c.5145G>A (p.Glu1715=)
c.2718G>A (p.Glu906=)
c.5178G>A (p.Glu1726=)
n.2828G>A
c.5175G>A (p.Glu1725=)
c.5283G>A (p.Glu1761=)
c.5286G>A (p.Glu1762=)
c.5259G>A (p.Glu1753=)
c.5196G>A (p.Glu1732=)
c.5067G>A (p.Glu1689=)
c.5055G>A (p.Glu1685=)
c.5028G>A (p.Glu1676=)
n.5612G>A
n.5614G>A
c.5382G>A (p.Glu1794=)
c.5376G>A (p.Glu1792=)
c.5373G>A (p.Glu1791=)
c.5268G>A (p.Glu1756=)
c.5265G>A (p.Glu1755=)
n.5397G>A
 gnomAD v4
11g.77203183G>CCA381952405MYO7Ac.5292G>C (p.Glu1764Asp)
c.3133G>C
c.5145G>C (p.Glu1715Asp)
c.2718G>C (p.Glu906Asp)
c.5178G>C (p.Glu1726Asp)
n.2828G>C
c.5175G>C (p.Glu1725Asp)
c.5283G>C (p.Glu1761Asp)
c.5286G>C (p.Glu1762Asp)
c.5259G>C (p.Glu1753Asp)
c.5196G>C (p.Glu1732Asp)
c.5067G>C (p.Glu1689Asp)
c.5055G>C (p.Glu1685Asp)
c.5028G>C (p.Glu1676Asp)
n.5612G>C
n.5614G>C
c.5382G>C (p.Glu1794Asp)
c.5376G>C (p.Glu1792Asp)
c.5373G>C (p.Glu1791Asp)
c.5268G>C (p.Glu1756Asp)
c.5265G>C (p.Glu1755Asp)
n.5397G>C
11g.77203183G>TCA381952406MYO7Ac.5292G>T (p.Glu1764Asp)
c.3133G>T
c.5145G>T (p.Glu1715Asp)
c.2718G>T (p.Glu906Asp)
c.5178G>T (p.Glu1726Asp)
n.2828G>T
c.5175G>T (p.Glu1725Asp)
c.5283G>T (p.Glu1761Asp)
c.5286G>T (p.Glu1762Asp)
c.5259G>T (p.Glu1753Asp)
c.5196G>T (p.Glu1732Asp)
c.5067G>T (p.Glu1689Asp)
c.5055G>T (p.Glu1685Asp)
c.5028G>T (p.Glu1676Asp)
n.5612G>T
n.5614G>T
c.5382G>T (p.Glu1794Asp)
c.5376G>T (p.Glu1792Asp)
c.5373G>T (p.Glu1791Asp)
c.5268G>T (p.Glu1756Asp)
c.5265G>T (p.Glu1755Asp)
n.5397G>T
 gnomAD v4
11g.77203184G>ACA6198666MYO7Ac.5293G>A (p.Glu1765Lys)
c.3134G>A
c.5146G>A (p.Glu1716Lys)
c.2719G>A (p.Glu907Lys)
c.5179G>A (p.Glu1727Lys)
n.2829G>A
c.5176G>A (p.Glu1726Lys)
c.5284G>A (p.Glu1762Lys)
c.5287G>A (p.Glu1763Lys)
c.5260G>A (p.Glu1754Lys)
c.5197G>A (p.Glu1733Lys)
c.5068G>A (p.Glu1690Lys)
c.5056G>A (p.Glu1686Lys)
c.5029G>A (p.Glu1677Lys)
n.5613G>A
n.5615G>A
c.5383G>A (p.Glu1795Lys)
c.5377G>A (p.Glu1793Lys)
c.5374G>A (p.Glu1792Lys)
c.5269G>A (p.Glu1757Lys)
c.5266G>A (p.Glu1756Lys)
n.5398G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77203184G>CCA381952407MYO7Ac.5293G>C (p.Glu1765Gln)
c.3134G>C
c.5146G>C (p.Glu1716Gln)
c.2719G>C (p.Glu907Gln)
c.5179G>C (p.Glu1727Gln)
n.2829G>C
c.5176G>C (p.Glu1726Gln)
c.5284G>C (p.Glu1762Gln)
c.5287G>C (p.Glu1763Gln)
c.5260G>C (p.Glu1754Gln)
c.5197G>C (p.Glu1733Gln)
c.5068G>C (p.Glu1690Gln)
c.5056G>C (p.Glu1686Gln)
c.5029G>C (p.Glu1677Gln)
n.5613G>C
n.5615G>C
c.5383G>C (p.Glu1795Gln)
c.5377G>C (p.Glu1793Gln)
c.5374G>C (p.Glu1792Gln)
c.5269G>C (p.Glu1757Gln)
c.5266G>C (p.Glu1756Gln)
n.5398G>C
 gnomAD v4
11g.77203184G=CA1984125716MYO7Ac.5293G= (p.Glu1765=)
c.3134G=
c.5146G= (p.Glu1716=)
c.2719G= (p.Glu907=)
c.5179G= (p.Glu1727=)
n.2829G=
c.5176G= (p.Glu1726=)
c.5284G= (p.Glu1762=)
c.5287G= (p.Glu1763=)
c.5260G= (p.Glu1754=)
c.5197G= (p.Glu1733=)
c.5068G= (p.Glu1690=)
c.5056G= (p.Glu1686=)
c.5029G= (p.Glu1677=)
n.5613G=
n.5615G=
c.5383G= (p.Glu1795=)
c.5377G= (p.Glu1793=)
c.5374G= (p.Glu1792=)
c.5269G= (p.Glu1757=)
c.5266G= (p.Glu1756=)
n.5398G=
11g.77203184G>TCA381952408MYO7Ac.5293G>T (p.Glu1765Ter)
c.3134G>T
c.5146G>T (p.Glu1716Ter)
c.2719G>T (p.Glu907Ter)
c.5179G>T (p.Glu1727Ter)
n.2829G>T
c.5176G>T (p.Glu1726Ter)
c.5284G>T (p.Glu1762Ter)
c.5287G>T (p.Glu1763Ter)
c.5260G>T (p.Glu1754Ter)
c.5197G>T (p.Glu1733Ter)
c.5068G>T (p.Glu1690Ter)
c.5056G>T (p.Glu1686Ter)
c.5029G>T (p.Glu1677Ter)
n.5613G>T
n.5615G>T
c.5383G>T (p.Glu1795Ter)
c.5377G>T (p.Glu1793Ter)
c.5374G>T (p.Glu1792Ter)
c.5269G>T (p.Glu1757Ter)
c.5266G>T (p.Glu1756Ter)
n.5398G>T
 gnomAD v4
11g.77203185A=CA1984125717MYO7Ac.5294A= (p.Glu1765=)
c.3135A=
c.5147A= (p.Glu1716=)
c.2720A= (p.Glu907=)
c.5180A= (p.Glu1727=)
n.2830A=
c.5177A= (p.Glu1726=)
c.5285A= (p.Glu1762=)
c.5288A= (p.Glu1763=)
c.5261A= (p.Glu1754=)
c.5198A= (p.Glu1733=)
c.5069A= (p.Glu1690=)
c.5057A= (p.Glu1686=)
c.5030A= (p.Glu1677=)
n.5614A=
n.5616A=
c.5384A= (p.Glu1795=)
c.5378A= (p.Glu1793=)
c.5375A= (p.Glu1792=)
c.5270A= (p.Glu1757=)
c.5267A= (p.Glu1756=)
n.5399A=
11g.77203185A>CCA381952410MYO7Ac.5294A>C (p.Glu1765Ala)
c.3135A>C
c.5147A>C (p.Glu1716Ala)
c.2720A>C (p.Glu907Ala)
c.5180A>C (p.Glu1727Ala)
n.2830A>C
c.5177A>C (p.Glu1726Ala)
c.5285A>C (p.Glu1762Ala)
c.5288A>C (p.Glu1763Ala)
c.5261A>C (p.Glu1754Ala)
c.5198A>C (p.Glu1733Ala)
c.5069A>C (p.Glu1690Ala)
c.5057A>C (p.Glu1686Ala)
c.5030A>C (p.Glu1677Ala)
n.5614A>C
n.5616A>C
c.5384A>C (p.Glu1795Ala)
c.5378A>C (p.Glu1793Ala)
c.5375A>C (p.Glu1792Ala)
c.5270A>C (p.Glu1757Ala)
c.5267A>C (p.Glu1756Ala)
n.5399A>C
11g.77203185A>GCA381952409MYO7Ac.5294A>G (p.Glu1765Gly)
c.3135A>G
c.5147A>G (p.Glu1716Gly)
c.2720A>G (p.Glu907Gly)
c.5180A>G (p.Glu1727Gly)
n.2830A>G
c.5177A>G (p.Glu1726Gly)
c.5285A>G (p.Glu1762Gly)
c.5288A>G (p.Glu1763Gly)
c.5261A>G (p.Glu1754Gly)
c.5198A>G (p.Glu1733Gly)
c.5069A>G (p.Glu1690Gly)
c.5057A>G (p.Glu1686Gly)
c.5030A>G (p.Glu1677Gly)
n.5614A>G
n.5616A>G
c.5384A>G (p.Glu1795Gly)
c.5378A>G (p.Glu1793Gly)
c.5375A>G (p.Glu1792Gly)
c.5270A>G (p.Glu1757Gly)
c.5267A>G (p.Glu1756Gly)
n.5399A>G
11g.77203185A>TCA6198667MYO7Ac.5294A>T (p.Glu1765Val)
c.3135A>T
c.5147A>T (p.Glu1716Val)
c.2720A>T (p.Glu907Val)
c.5180A>T (p.Glu1727Val)
n.2830A>T
c.5177A>T (p.Glu1726Val)
c.5285A>T (p.Glu1762Val)
c.5288A>T (p.Glu1763Val)
c.5261A>T (p.Glu1754Val)
c.5198A>T (p.Glu1733Val)
c.5069A>T (p.Glu1690Val)
c.5057A>T (p.Glu1686Val)
c.5030A>T (p.Glu1677Val)
n.5614A>T
n.5616A>T
c.5384A>T (p.Glu1795Val)
c.5378A>T (p.Glu1793Val)
c.5375A>T (p.Glu1792Val)
c.5270A>T (p.Glu1757Val)
c.5267A>T (p.Glu1756Val)
n.5399A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77203186G>ACA475796982MYO7Ac.5295G>A (p.Glu1765=)
c.3136G>A
c.5148G>A (p.Glu1716=)
c.2721G>A (p.Glu907=)
c.5181G>A (p.Glu1727=)
n.2831G>A
n.1G>A
c.5178G>A (p.Glu1726=)
c.5286G>A (p.Glu1762=)
c.5289G>A (p.Glu1763=)
c.5262G>A (p.Glu1754=)
c.5199G>A (p.Glu1733=)
c.5070G>A (p.Glu1690=)
c.5058G>A (p.Glu1686=)
c.5031G>A (p.Glu1677=)
n.5615G>A
n.5617G>A
c.5385G>A (p.Glu1795=)
c.5379G>A (p.Glu1793=)
c.5376G>A (p.Glu1792=)
c.5271G>A (p.Glu1757=)
c.5268G>A (p.Glu1756=)
n.5400G>A
 gnomAD v4
11g.77203186G>CCA381952411MYO7Ac.5295G>C (p.Glu1765Asp)
c.3136G>C
c.5148G>C (p.Glu1716Asp)
c.2721G>C (p.Glu907Asp)
c.5181G>C (p.Glu1727Asp)
n.2831G>C
n.1G>C
c.5178G>C (p.Glu1726Asp)
c.5286G>C (p.Glu1762Asp)
c.5289G>C (p.Glu1763Asp)
c.5262G>C (p.Glu1754Asp)
c.5199G>C (p.Glu1733Asp)
c.5070G>C (p.Glu1690Asp)
c.5058G>C (p.Glu1686Asp)
c.5031G>C (p.Glu1677Asp)
n.5615G>C
n.5617G>C
c.5385G>C (p.Glu1795Asp)
c.5379G>C (p.Glu1793Asp)
c.5376G>C (p.Glu1792Asp)
c.5271G>C (p.Glu1757Asp)
c.5268G>C (p.Glu1756Asp)
n.5400G>C
11g.77203186G>TCA381952412MYO7Ac.5295G>T (p.Glu1765Asp)
c.3136G>T
c.5148G>T (p.Glu1716Asp)
c.2721G>T (p.Glu907Asp)
c.5181G>T (p.Glu1727Asp)
n.2831G>T
n.1G>T
c.5178G>T (p.Glu1726Asp)
c.5286G>T (p.Glu1762Asp)
c.5289G>T (p.Glu1763Asp)
c.5262G>T (p.Glu1754Asp)
c.5199G>T (p.Glu1733Asp)
c.5070G>T (p.Glu1690Asp)
c.5058G>T (p.Glu1686Asp)
c.5031G>T (p.Glu1677Asp)
n.5615G>T
n.5617G>T
c.5385G>T (p.Glu1795Asp)
c.5379G>T (p.Glu1793Asp)
c.5376G>T (p.Glu1792Asp)
c.5271G>T (p.Glu1757Asp)
c.5268G>T (p.Glu1756Asp)
n.5400G>T
 gnomAD v4
11g.77203187C>ACA381952413MYO7Ac.5296C>A (p.Leu1766Ile)
c.3137C>A
c.5149C>A (p.Leu1717Ile)
c.2722C>A (p.Leu908Ile)
c.5182C>A (p.Leu1728Ile)
n.2832C>A
n.2C>A
c.5179C>A (p.Leu1727Ile)
c.5287C>A (p.Leu1763Ile)
c.5290C>A (p.Leu1764Ile)
c.5263C>A (p.Leu1755Ile)
c.5200C>A (p.Leu1734Ile)
c.5071C>A (p.Leu1691Ile)
c.5059C>A (p.Leu1687Ile)
c.5032C>A (p.Leu1678Ile)
n.5616C>A
n.5618C>A
c.5386C>A (p.Leu1796Ile)
c.5380C>A (p.Leu1794Ile)
c.5377C>A (p.Leu1793Ile)
c.5272C>A (p.Leu1758Ile)
c.5269C>A (p.Leu1757Ile)
n.5401C>A
 gnomAD v4
11g.77203187C>GCA381952414MYO7Ac.5296C>G (p.Leu1766Val)
c.3137C>G
c.5149C>G (p.Leu1717Val)
c.2722C>G (p.Leu908Val)
c.5182C>G (p.Leu1728Val)
n.2832C>G
n.2C>G
c.5179C>G (p.Leu1727Val)
c.5287C>G (p.Leu1763Val)
c.5290C>G (p.Leu1764Val)
c.5263C>G (p.Leu1755Val)
c.5200C>G (p.Leu1734Val)
c.5071C>G (p.Leu1691Val)
c.5059C>G (p.Leu1687Val)
c.5032C>G (p.Leu1678Val)
n.5616C>G
n.5618C>G
c.5386C>G (p.Leu1796Val)
c.5380C>G (p.Leu1794Val)
c.5377C>G (p.Leu1793Val)
c.5272C>G (p.Leu1758Val)
c.5269C>G (p.Leu1757Val)
n.5401C>G
11g.77203187C>TCA381952415MYO7Ac.5296C>T (p.Leu1766Phe)
c.3137C>T
c.5149C>T (p.Leu1717Phe)
c.2722C>T (p.Leu908Phe)
c.5182C>T (p.Leu1728Phe)
n.2832C>T
n.2C>T
c.5179C>T (p.Leu1727Phe)
c.5287C>T (p.Leu1763Phe)
c.5290C>T (p.Leu1764Phe)
c.5263C>T (p.Leu1755Phe)
c.5200C>T (p.Leu1734Phe)
c.5071C>T (p.Leu1691Phe)
c.5059C>T (p.Leu1687Phe)
c.5032C>T (p.Leu1678Phe)
n.5616C>T
n.5618C>T
c.5386C>T (p.Leu1796Phe)
c.5380C>T (p.Leu1794Phe)
c.5377C>T (p.Leu1793Phe)
c.5272C>T (p.Leu1758Phe)
c.5269C>T (p.Leu1757Phe)
n.5401C>T
 gnomAD v4
11g.77203188T>ACA381952416MYO7Ac.5297T>A (p.Leu1766His)
c.3138T>A
c.5150T>A (p.Leu1717His)
c.2723T>A (p.Leu908His)
c.5183T>A (p.Leu1728His)
n.2833T>A
n.3T>A
c.5180T>A (p.Leu1727His)
c.5288T>A (p.Leu1763His)
c.5291T>A (p.Leu1764His)
c.5264T>A (p.Leu1755His)
c.5201T>A (p.Leu1734His)
c.5072T>A (p.Leu1691His)
c.5060T>A (p.Leu1687His)
c.5033T>A (p.Leu1678His)
n.5617T>A
n.5619T>A
c.5387T>A (p.Leu1796His)
c.5381T>A (p.Leu1794His)
c.5378T>A (p.Leu1793His)
c.5273T>A (p.Leu1758His)
c.5270T>A (p.Leu1757His)
n.5402T>A
 dbSNP
11g.77203188T>CCA381952417MYO7Ac.5297T>C (p.Leu1766Pro)
c.3138T>C
c.5150T>C (p.Leu1717Pro)
c.2723T>C (p.Leu908Pro)
c.5183T>C (p.Leu1728Pro)
n.2833T>C
n.3T>C
c.5180T>C (p.Leu1727Pro)
c.5288T>C (p.Leu1763Pro)
c.5291T>C (p.Leu1764Pro)
c.5264T>C (p.Leu1755Pro)
c.5201T>C (p.Leu1734Pro)
c.5072T>C (p.Leu1691Pro)
c.5060T>C (p.Leu1687Pro)
c.5033T>C (p.Leu1678Pro)
n.5617T>C
n.5619T>C
c.5387T>C (p.Leu1796Pro)
c.5381T>C (p.Leu1794Pro)
c.5378T>C (p.Leu1793Pro)
c.5273T>C (p.Leu1758Pro)
c.5270T>C (p.Leu1757Pro)
n.5402T>C
11g.77203188T>GCA381952418MYO7Ac.5297T>G (p.Leu1766Arg)
c.3138T>G
c.5150T>G (p.Leu1717Arg)
c.2723T>G (p.Leu908Arg)
c.5183T>G (p.Leu1728Arg)
n.2833T>G
n.3T>G
c.5180T>G (p.Leu1727Arg)
c.5288T>G (p.Leu1763Arg)
c.5291T>G (p.Leu1764Arg)
c.5264T>G (p.Leu1755Arg)
c.5201T>G (p.Leu1734Arg)
c.5072T>G (p.Leu1691Arg)
c.5060T>G (p.Leu1687Arg)
c.5033T>G (p.Leu1678Arg)
n.5617T>G
n.5619T>G
c.5387T>G (p.Leu1796Arg)
c.5381T>G (p.Leu1794Arg)
c.5378T>G (p.Leu1793Arg)
c.5273T>G (p.Leu1758Arg)
c.5270T>G (p.Leu1757Arg)
n.5402T>G
11g.77203188T=CA1984125718MYO7Ac.5297T= (p.Leu1766=)
c.3138T=
c.5150T= (p.Leu1717=)
c.2723T= (p.Leu908=)
c.5183T= (p.Leu1728=)
n.2833T=
n.3T=
c.5180T= (p.Leu1727=)
c.5288T= (p.Leu1763=)
c.5291T= (p.Leu1764=)
c.5264T= (p.Leu1755=)
c.5201T= (p.Leu1734=)
c.5072T= (p.Leu1691=)
c.5060T= (p.Leu1687=)
c.5033T= (p.Leu1678=)
n.5617T=
n.5619T=
c.5387T= (p.Leu1796=)
c.5381T= (p.Leu1794=)
c.5378T= (p.Leu1793=)
c.5273T= (p.Leu1758=)
c.5270T= (p.Leu1757=)
n.5402T=
11g.77203189C>ACA475796985MYO7Ac.5298C>A (p.Leu1766=)
c.3139C>A
c.5151C>A (p.Leu1717=)
c.2724C>A (p.Leu908=)
c.5184C>A (p.Leu1728=)
n.2834C>A
n.4C>A
c.5181C>A (p.Leu1727=)
c.5289C>A (p.Leu1763=)
c.5292C>A (p.Leu1764=)
c.5265C>A (p.Leu1755=)
c.5202C>A (p.Leu1734=)
c.5073C>A (p.Leu1691=)
c.5061C>A (p.Leu1687=)
c.5034C>A (p.Leu1678=)
n.5618C>A
n.5620C>A
c.5388C>A (p.Leu1796=)
c.5382C>A (p.Leu1794=)
c.5379C>A (p.Leu1793=)
c.5274C>A (p.Leu1758=)
c.5271C>A (p.Leu1757=)
n.5403C>A
 gnomAD v4
11g.77203189C>GCA475796983MYO7Ac.5298C>G (p.Leu1766=)
c.3139C>G
c.5151C>G (p.Leu1717=)
c.2724C>G (p.Leu908=)
c.5184C>G (p.Leu1728=)
n.2834C>G
n.4C>G
c.5181C>G (p.Leu1727=)
c.5289C>G (p.Leu1763=)
c.5292C>G (p.Leu1764=)
c.5265C>G (p.Leu1755=)
c.5202C>G (p.Leu1734=)
c.5073C>G (p.Leu1691=)
c.5061C>G (p.Leu1687=)
c.5034C>G (p.Leu1678=)
n.5618C>G
n.5620C>G
c.5388C>G (p.Leu1796=)
c.5382C>G (p.Leu1794=)
c.5379C>G (p.Leu1793=)
c.5274C>G (p.Leu1758=)
c.5271C>G (p.Leu1757=)
n.5403C>G
11g.77203189C>TCA475796984MYO7Ac.5298C>T (p.Leu1766=)
c.3139C>T
c.5151C>T (p.Leu1717=)
c.2724C>T (p.Leu908=)
c.5184C>T (p.Leu1728=)
n.2834C>T
n.4C>T
c.5181C>T (p.Leu1727=)
c.5289C>T (p.Leu1763=)
c.5292C>T (p.Leu1764=)
c.5265C>T (p.Leu1755=)
c.5202C>T (p.Leu1734=)
c.5073C>T (p.Leu1691=)
c.5061C>T (p.Leu1687=)
c.5034C>T (p.Leu1678=)
n.5618C>T
n.5620C>T
c.5388C>T (p.Leu1796=)
c.5382C>T (p.Leu1794=)
c.5379C>T (p.Leu1793=)
c.5274C>T (p.Leu1758=)
c.5271C>T (p.Leu1757=)
n.5403C>T
11g.77203190T>ACA381952419MYO7Ac.5299T>A (p.Ser1767Thr)
c.3140T>A
c.5152T>A (p.Ser1718Thr)
c.2725T>A (p.Ser909Thr)
c.5185T>A (p.Ser1729Thr)
n.2835T>A
n.5T>A
c.5182T>A (p.Ser1728Thr)
c.5290T>A (p.Ser1764Thr)
c.5293T>A (p.Ser1765Thr)
c.5266T>A (p.Ser1756Thr)
c.5203T>A (p.Ser1735Thr)
c.5074T>A (p.Ser1692Thr)
c.5062T>A (p.Ser1688Thr)
c.5035T>A (p.Ser1679Thr)
n.5619T>A
n.5621T>A
c.5389T>A (p.Ser1797Thr)
c.5383T>A (p.Ser1795Thr)
c.5380T>A (p.Ser1794Thr)
c.5275T>A (p.Ser1759Thr)
c.5272T>A (p.Ser1758Thr)
n.5404T>A
 gnomAD v4
11g.77203190T>CCA381952420MYO7Ac.5299T>C (p.Ser1767Pro)
c.3140T>C
c.5152T>C (p.Ser1718Pro)
c.2725T>C (p.Ser909Pro)
c.5185T>C (p.Ser1729Pro)
n.2835T>C
n.5T>C
c.5182T>C (p.Ser1728Pro)
c.5290T>C (p.Ser1764Pro)
c.5293T>C (p.Ser1765Pro)
c.5266T>C (p.Ser1756Pro)
c.5203T>C (p.Ser1735Pro)
c.5074T>C (p.Ser1692Pro)
c.5062T>C (p.Ser1688Pro)
c.5035T>C (p.Ser1679Pro)
n.5619T>C
n.5621T>C
c.5389T>C (p.Ser1797Pro)
c.5383T>C (p.Ser1795Pro)
c.5380T>C (p.Ser1794Pro)
c.5275T>C (p.Ser1759Pro)
c.5272T>C (p.Ser1758Pro)
n.5404T>C
11g.77203190T>GCA381952421MYO7Ac.5299T>G (p.Ser1767Ala)
c.3140T>G
c.5152T>G (p.Ser1718Ala)
c.2725T>G (p.Ser909Ala)
c.5185T>G (p.Ser1729Ala)
n.2835T>G
n.5T>G
c.5182T>G (p.Ser1728Ala)
c.5290T>G (p.Ser1764Ala)
c.5293T>G (p.Ser1765Ala)
c.5266T>G (p.Ser1756Ala)
c.5203T>G (p.Ser1735Ala)
c.5074T>G (p.Ser1692Ala)
c.5062T>G (p.Ser1688Ala)
c.5035T>G (p.Ser1679Ala)
n.5619T>G
n.5621T>G
c.5389T>G (p.Ser1797Ala)
c.5383T>G (p.Ser1795Ala)
c.5380T>G (p.Ser1794Ala)
c.5275T>G (p.Ser1759Ala)
c.5272T>G (p.Ser1758Ala)
n.5404T>G
11g.77203191C>ACA381952422MYO7Ac.5300C>A (p.Ser1767Ter)
c.3141C>A
c.5153C>A (p.Ser1718Ter)
c.2726C>A (p.Ser909Ter)
c.5186C>A (p.Ser1729Ter)
n.2836C>A
n.6C>A
c.5183C>A (p.Ser1728Ter)
c.5291C>A (p.Ser1764Ter)
c.5294C>A (p.Ser1765Ter)
c.5267C>A (p.Ser1756Ter)
c.5204C>A (p.Ser1735Ter)
c.5075C>A (p.Ser1692Ter)
c.5063C>A (p.Ser1688Ter)
c.5036C>A (p.Ser1679Ter)
n.5620C>A
n.5622C>A
c.5390C>A (p.Ser1797Ter)
c.5384C>A (p.Ser1795Ter)
c.5381C>A (p.Ser1794Ter)
c.5276C>A (p.Ser1759Ter)
c.5273C>A (p.Ser1758Ter)
n.5405C>A
 ClinVar dbSNP gnomAD v4
11g.77203191C=CA1984125719MYO7Ac.5300C= (p.Ser1767=)
c.3141C=
c.5153C= (p.Ser1718=)
c.2726C= (p.Ser909=)
c.5186C= (p.Ser1729=)
n.2836C=
n.6C=
c.5183C= (p.Ser1728=)
c.5291C= (p.Ser1764=)
c.5294C= (p.Ser1765=)
c.5267C= (p.Ser1756=)
c.5204C= (p.Ser1735=)
c.5075C= (p.Ser1692=)
c.5063C= (p.Ser1688=)
c.5036C= (p.Ser1679=)
n.5620C=
n.5622C=
c.5390C= (p.Ser1797=)
c.5384C= (p.Ser1795=)
c.5381C= (p.Ser1794=)
c.5276C= (p.Ser1759=)
c.5273C= (p.Ser1758=)
n.5405C=
11g.77203191C>GCA381952423MYO7Ac.5300C>G (p.Ser1767Trp)
c.3141C>G
c.5153C>G (p.Ser1718Trp)
c.2726C>G (p.Ser909Trp)
c.5186C>G (p.Ser1729Trp)
n.2836C>G
n.6C>G
c.5183C>G (p.Ser1728Trp)
c.5291C>G (p.Ser1764Trp)
c.5294C>G (p.Ser1765Trp)
c.5267C>G (p.Ser1756Trp)
c.5204C>G (p.Ser1735Trp)
c.5075C>G (p.Ser1692Trp)
c.5063C>G (p.Ser1688Trp)
c.5036C>G (p.Ser1679Trp)
n.5620C>G
n.5622C>G
c.5390C>G (p.Ser1797Trp)
c.5384C>G (p.Ser1795Trp)
c.5381C>G (p.Ser1794Trp)
c.5276C>G (p.Ser1759Trp)
c.5273C>G (p.Ser1758Trp)
n.5405C>G
11g.77203191C>TCA6198668MYO7Ac.5300C>T (p.Ser1767Leu)
c.3141C>T
c.5153C>T (p.Ser1718Leu)
c.2726C>T (p.Ser909Leu)
c.5186C>T (p.Ser1729Leu)
n.2836C>T
n.6C>T
c.5183C>T (p.Ser1728Leu)
c.5291C>T (p.Ser1764Leu)
c.5294C>T (p.Ser1765Leu)
c.5267C>T (p.Ser1756Leu)
c.5204C>T (p.Ser1735Leu)
c.5075C>T (p.Ser1692Leu)
c.5063C>T (p.Ser1688Leu)
c.5036C>T (p.Ser1679Leu)
n.5620C>T
n.5622C>T
c.5390C>T (p.Ser1797Leu)
c.5384C>T (p.Ser1795Leu)
c.5381C>T (p.Ser1794Leu)
c.5276C>T (p.Ser1759Leu)
c.5273C>T (p.Ser1758Leu)
n.5405C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77203192G>ACA224852714MYO7Ac.5301G>A (p.Ser1767=)
c.3142G>A
c.5154G>A (p.Ser1718=)
c.2727G>A (p.Ser909=)
c.5187G>A (p.Ser1729=)
n.2837G>A
n.7G>A
c.5184G>A (p.Ser1728=)
c.5292G>A (p.Ser1764=)
c.5295G>A (p.Ser1765=)
c.5268G>A (p.Ser1756=)
c.5205G>A (p.Ser1735=)
c.5076G>A (p.Ser1692=)
c.5064G>A (p.Ser1688=)
c.5037G>A (p.Ser1679=)
n.5621G>A
n.5623G>A
c.5391G>A (p.Ser1797=)
c.5385G>A (p.Ser1795=)
c.5382G>A (p.Ser1794=)
c.5277G>A (p.Ser1759=)
c.5274G>A (p.Ser1758=)
n.5406G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77203192G>CCA475796986MYO7Ac.5301G>C (p.Ser1767=)
c.3142G>C
c.5154G>C (p.Ser1718=)
c.2727G>C (p.Ser909=)
c.5187G>C (p.Ser1729=)
n.2837G>C
n.7G>C
c.5184G>C (p.Ser1728=)
c.5292G>C (p.Ser1764=)
c.5295G>C (p.Ser1765=)
c.5268G>C (p.Ser1756=)
c.5205G>C (p.Ser1735=)
c.5076G>C (p.Ser1692=)
c.5064G>C (p.Ser1688=)
c.5037G>C (p.Ser1679=)
n.5621G>C
n.5623G>C
c.5391G>C (p.Ser1797=)
c.5385G>C (p.Ser1795=)
c.5382G>C (p.Ser1794=)
c.5277G>C (p.Ser1759=)
c.5274G>C (p.Ser1758=)
n.5406G>C
11g.77203192G=CA1984125720MYO7Ac.5301G= (p.Ser1767=)
c.3142G=
c.5154G= (p.Ser1718=)
c.2727G= (p.Ser909=)
c.5187G= (p.Ser1729=)
n.2837G=
n.7G=
c.5184G= (p.Ser1728=)
c.5292G= (p.Ser1764=)
c.5295G= (p.Ser1765=)
c.5268G= (p.Ser1756=)
c.5205G= (p.Ser1735=)
c.5076G= (p.Ser1692=)
c.5064G= (p.Ser1688=)
c.5037G= (p.Ser1679=)
n.5621G=
n.5623G=
c.5391G= (p.Ser1797=)
c.5385G= (p.Ser1795=)
c.5382G= (p.Ser1794=)
c.5277G= (p.Ser1759=)
c.5274G= (p.Ser1758=)
n.5406G=
11g.77203192G>TCA475796987MYO7Ac.5301G>T (p.Ser1767=)
c.3142G>T
c.5154G>T (p.Ser1718=)
c.2727G>T (p.Ser909=)
c.5187G>T (p.Ser1729=)
n.2837G>T
n.7G>T
c.5184G>T (p.Ser1728=)
c.5292G>T (p.Ser1764=)
c.5295G>T (p.Ser1765=)
c.5268G>T (p.Ser1756=)
c.5205G>T (p.Ser1735=)
c.5076G>T (p.Ser1692=)
c.5064G>T (p.Ser1688=)
c.5037G>T (p.Ser1679=)
n.5621G>T
n.5623G>T
c.5391G>T (p.Ser1797=)
c.5385G>T (p.Ser1795=)
c.5382G>T (p.Ser1794=)
c.5277G>T (p.Ser1759=)
c.5274G>T (p.Ser1758=)
n.5406G>T
 gnomAD v4
11g.77203192_77203196delCA2792790408MYO7Ac.5301_5305del (p.Gln1768GlyfsTer?)
c.3142_3146del
c.5154_5158del (p.Gln1719GlyfsTer?)
c.2727_2731del (p.Gln910GlyfsTer?)
c.5187_5191del (p.Gln1730GlyfsTer?)
n.2837_2841del
n.7_11del
c.5184_5188del (p.Gln1729GlyfsTer?)
c.5292_5296del (p.Gln1765GlyfsTer?)
c.5295_5299del (p.Gln1766GlyfsTer?)
c.5268_5272del (p.Gln1757GlyfsTer?)
c.5205_5209del (p.Gln1736GlyfsTer?)
c.5076_5080del (p.Gln1693GlyfsTer?)
c.5064_5068del (p.Gln1689GlyfsTer?)
c.5037_5041del (p.Gln1680GlyfsTer?)
n.5621_5625del
n.5623_5627del
c.5391_5395del (p.Gln1798GlyfsTer?)
c.5385_5389del (p.Gln1796GlyfsTer?)
c.5382_5386del (p.Gln1795GlyfsTer?)
c.5277_5281del (p.Gln1760GlyfsTer?)
c.5274_5278del (p.Gln1759GlyfsTer?)
n.5406_5410del
11g.77203193C>ACA381952424MYO7Ac.5302C>A (p.Gln1768Lys)
c.3143C>A
c.5155C>A (p.Gln1719Lys)
c.2728C>A (p.Gln910Lys)
c.5188C>A (p.Gln1730Lys)
n.2838C>A
n.8C>A
c.5185C>A (p.Gln1729Lys)
c.5293C>A (p.Gln1765Lys)
c.5296C>A (p.Gln1766Lys)
c.5269C>A (p.Gln1757Lys)
c.5206C>A (p.Gln1736Lys)
c.5077C>A (p.Gln1693Lys)
c.5065C>A (p.Gln1689Lys)
c.5038C>A (p.Gln1680Lys)
n.5622C>A
n.5624C>A
c.5392C>A (p.Gln1798Lys)
c.5386C>A (p.Gln1796Lys)
c.5383C>A (p.Gln1795Lys)
c.5278C>A (p.Gln1760Lys)
c.5275C>A (p.Gln1759Lys)
n.5407C>A
 gnomAD v4
11g.77203193C>GCA381952425MYO7Ac.5302C>G (p.Gln1768Glu)
c.3143C>G
c.5155C>G (p.Gln1719Glu)
c.2728C>G (p.Gln910Glu)
c.5188C>G (p.Gln1730Glu)
n.2838C>G
n.8C>G
c.5185C>G (p.Gln1729Glu)
c.5293C>G (p.Gln1765Glu)
c.5296C>G (p.Gln1766Glu)
c.5269C>G (p.Gln1757Glu)
c.5206C>G (p.Gln1736Glu)
c.5077C>G (p.Gln1693Glu)
c.5065C>G (p.Gln1689Glu)
c.5038C>G (p.Gln1680Glu)
n.5622C>G
n.5624C>G
c.5392C>G (p.Gln1798Glu)
c.5386C>G (p.Gln1796Glu)
c.5383C>G (p.Gln1795Glu)
c.5278C>G (p.Gln1760Glu)
c.5275C>G (p.Gln1759Glu)
n.5407C>G
11g.77203193C>TCA381952426MYO7Ac.5302C>T (p.Gln1768Ter)
c.3143C>T
c.5155C>T (p.Gln1719Ter)
c.2728C>T (p.Gln910Ter)
c.5188C>T (p.Gln1730Ter)
n.2838C>T
n.8C>T
c.5185C>T (p.Gln1729Ter)
c.5293C>T (p.Gln1765Ter)
c.5296C>T (p.Gln1766Ter)
c.5269C>T (p.Gln1757Ter)
c.5206C>T (p.Gln1736Ter)
c.5077C>T (p.Gln1693Ter)
c.5065C>T (p.Gln1689Ter)
c.5038C>T (p.Gln1680Ter)
n.5622C>T
n.5624C>T
c.5392C>T (p.Gln1798Ter)
c.5386C>T (p.Gln1796Ter)
c.5383C>T (p.Gln1795Ter)
c.5278C>T (p.Gln1760Ter)
c.5275C>T (p.Gln1759Ter)
n.5407C>T
 gnomAD v4
11g.77203194A>CCA381952427MYO7Ac.5303A>C (p.Gln1768Pro)
c.3144A>C
c.5156A>C (p.Gln1719Pro)
c.2729A>C (p.Gln910Pro)
c.5189A>C (p.Gln1730Pro)
n.2839A>C
n.9A>C
c.5186A>C (p.Gln1729Pro)
c.5294A>C (p.Gln1765Pro)
c.5297A>C (p.Gln1766Pro)
c.5270A>C (p.Gln1757Pro)
c.5207A>C (p.Gln1736Pro)
c.5078A>C (p.Gln1693Pro)
c.5066A>C (p.Gln1689Pro)
c.5039A>C (p.Gln1680Pro)
n.5623A>C
n.5625A>C
c.5393A>C (p.Gln1798Pro)
c.5387A>C (p.Gln1796Pro)
c.5384A>C (p.Gln1795Pro)
c.5279A>C (p.Gln1760Pro)
c.5276A>C (p.Gln1759Pro)
n.5408A>C
11g.77203194A>GCA381952428MYO7Ac.5303A>G (p.Gln1768Arg)
c.3144A>G
c.5156A>G (p.Gln1719Arg)
c.2729A>G (p.Gln910Arg)
c.5189A>G (p.Gln1730Arg)
n.2839A>G
n.9A>G
c.5186A>G (p.Gln1729Arg)
c.5294A>G (p.Gln1765Arg)
c.5297A>G (p.Gln1766Arg)
c.5270A>G (p.Gln1757Arg)
c.5207A>G (p.Gln1736Arg)
c.5078A>G (p.Gln1693Arg)
c.5066A>G (p.Gln1689Arg)
c.5039A>G (p.Gln1680Arg)
n.5623A>G
n.5625A>G
c.5393A>G (p.Gln1798Arg)
c.5387A>G (p.Gln1796Arg)
c.5384A>G (p.Gln1795Arg)
c.5279A>G (p.Gln1760Arg)
c.5276A>G (p.Gln1759Arg)
n.5408A>G
 gnomAD v4
11g.77203194A>TCA381952429MYO7Ac.5303A>T (p.Gln1768Leu)
c.3144A>T
c.5156A>T (p.Gln1719Leu)
c.2729A>T (p.Gln910Leu)
c.5189A>T (p.Gln1730Leu)
n.2839A>T
n.9A>T
c.5186A>T (p.Gln1729Leu)
c.5294A>T (p.Gln1765Leu)
c.5297A>T (p.Gln1766Leu)
c.5270A>T (p.Gln1757Leu)
c.5207A>T (p.Gln1736Leu)
c.5078A>T (p.Gln1693Leu)
c.5066A>T (p.Gln1689Leu)
c.5039A>T (p.Gln1680Leu)
n.5623A>T
n.5625A>T
c.5393A>T (p.Gln1798Leu)
c.5387A>T (p.Gln1796Leu)
c.5384A>T (p.Gln1795Leu)
c.5279A>T (p.Gln1760Leu)
c.5276A>T (p.Gln1759Leu)
n.5408A>T
11g.77203195G>ACA475796988MYO7Ac.5304G>A (p.Gln1768=)
c.3145G>A
c.5157G>A (p.Gln1719=)
c.2730G>A (p.Gln910=)
c.5190G>A (p.Gln1730=)
n.2840G>A
n.10G>A
c.5187G>A (p.Gln1729=)
c.5295G>A (p.Gln1765=)
c.5298G>A (p.Gln1766=)
c.5271G>A (p.Gln1757=)
c.5208G>A (p.Gln1736=)
c.5079G>A (p.Gln1693=)
c.5067G>A (p.Gln1689=)
c.5040G>A (p.Gln1680=)
n.5624G>A
n.5626G>A
c.5394G>A (p.Gln1798=)
c.5388G>A (p.Gln1796=)
c.5385G>A (p.Gln1795=)
c.5280G>A (p.Gln1760=)
c.5277G>A (p.Gln1759=)
n.5409G>A
 ClinVar gnomAD v4
11g.77203195G>CCA381952430MYO7Ac.5304G>C (p.Gln1768His)
c.3145G>C
c.5157G>C (p.Gln1719His)
c.2730G>C (p.Gln910His)
c.5190G>C (p.Gln1730His)
n.2840G>C
n.10G>C
c.5187G>C (p.Gln1729His)
c.5295G>C (p.Gln1765His)
c.5298G>C (p.Gln1766His)
c.5271G>C (p.Gln1757His)
c.5208G>C (p.Gln1736His)
c.5079G>C (p.Gln1693His)
c.5067G>C (p.Gln1689His)
c.5040G>C (p.Gln1680His)
n.5624G>C
n.5626G>C
c.5394G>C (p.Gln1798His)
c.5388G>C (p.Gln1796His)
c.5385G>C (p.Gln1795His)
c.5280G>C (p.Gln1760His)
c.5277G>C (p.Gln1759His)
n.5409G>C
11g.77203195G>TCA381952431MYO7Ac.5304G>T (p.Gln1768His)
c.3145G>T
c.5157G>T (p.Gln1719His)
c.2730G>T (p.Gln910His)
c.5190G>T (p.Gln1730His)
n.2840G>T
n.10G>T
c.5187G>T (p.Gln1729His)
c.5295G>T (p.Gln1765His)
c.5298G>T (p.Gln1766His)
c.5271G>T (p.Gln1757His)
c.5208G>T (p.Gln1736His)
c.5079G>T (p.Gln1693His)
c.5067G>T (p.Gln1689His)
c.5040G>T (p.Gln1680His)
n.5624G>T
n.5626G>T
c.5394G>T (p.Gln1798His)
c.5388G>T (p.Gln1796His)
c.5385G>T (p.Gln1795His)
c.5280G>T (p.Gln1760His)
c.5277G>T (p.Gln1759His)
n.5409G>T
 gnomAD v4
11g.77203196G>ACA381952432MYO7Ac.5305G>A (p.Glu1769Lys)
c.3146G>A
c.5158G>A (p.Glu1720Lys)
c.2731G>A (p.Glu911Lys)
c.5191G>A (p.Glu1731Lys)
n.2841G>A
n.11G>A
c.5188G>A (p.Glu1730Lys)
c.5296G>A (p.Glu1766Lys)
c.5299G>A (p.Glu1767Lys)
c.5272G>A (p.Glu1758Lys)
c.5209G>A (p.Glu1737Lys)
c.5080G>A (p.Glu1694Lys)
c.5068G>A (p.Glu1690Lys)
c.5041G>A (p.Glu1681Lys)
n.5625G>A
n.5627G>A
c.5395G>A (p.Glu1799Lys)
c.5389G>A (p.Glu1797Lys)
c.5386G>A (p.Glu1796Lys)
c.5281G>A (p.Glu1761Lys)
c.5278G>A (p.Glu1760Lys)
n.5410G>A
 dbSNP gnomAD v2 gnomAD v4
11g.77203196G>CCA381952433MYO7Ac.5305G>C (p.Glu1769Gln)
c.3146G>C
c.5158G>C (p.Glu1720Gln)
c.2731G>C (p.Glu911Gln)
c.5191G>C (p.Glu1731Gln)
n.2841G>C
n.11G>C
c.5188G>C (p.Glu1730Gln)
c.5296G>C (p.Glu1766Gln)
c.5299G>C (p.Glu1767Gln)
c.5272G>C (p.Glu1758Gln)
c.5209G>C (p.Glu1737Gln)
c.5080G>C (p.Glu1694Gln)
c.5068G>C (p.Glu1690Gln)
c.5041G>C (p.Glu1681Gln)
n.5625G>C
n.5627G>C
c.5395G>C (p.Glu1799Gln)
c.5389G>C (p.Glu1797Gln)
c.5386G>C (p.Glu1796Gln)
c.5281G>C (p.Glu1761Gln)
c.5278G>C (p.Glu1760Gln)
n.5410G>C
11g.77203196G=CA1984125721MYO7Ac.5305G= (p.Glu1769=)
c.3146G=
c.5158G= (p.Glu1720=)
c.2731G= (p.Glu911=)
c.5191G= (p.Glu1731=)
n.2841G=
n.11G=
c.5188G= (p.Glu1730=)
c.5296G= (p.Glu1766=)
c.5299G= (p.Glu1767=)
c.5272G= (p.Glu1758=)
c.5209G= (p.Glu1737=)
c.5080G= (p.Glu1694=)
c.5068G= (p.Glu1690=)
c.5041G= (p.Glu1681=)
n.5625G=
n.5627G=
c.5395G= (p.Glu1799=)
c.5389G= (p.Glu1797=)
c.5386G= (p.Glu1796=)
c.5281G= (p.Glu1761=)
c.5278G= (p.Glu1760=)
n.5410G=
11g.77203196G>TCA381952434MYO7Ac.5305G>T (p.Glu1769Ter)
c.3146G>T
c.5158G>T (p.Glu1720Ter)
c.2731G>T (p.Glu911Ter)
c.5191G>T (p.Glu1731Ter)
n.2841G>T
n.11G>T
c.5188G>T (p.Glu1730Ter)
c.5296G>T (p.Glu1766Ter)
c.5299G>T (p.Glu1767Ter)
c.5272G>T (p.Glu1758Ter)
c.5209G>T (p.Glu1737Ter)
c.5080G>T (p.Glu1694Ter)
c.5068G>T (p.Glu1690Ter)
c.5041G>T (p.Glu1681Ter)
n.5625G>T
n.5627G>T
c.5395G>T (p.Glu1799Ter)
c.5389G>T (p.Glu1797Ter)
c.5386G>T (p.Glu1796Ter)
c.5281G>T (p.Glu1761Ter)
c.5278G>T (p.Glu1760Ter)
n.5410G>T
 gnomAD v4
11g.77203197A>CCA381952435MYO7Ac.5306A>C (p.Glu1769Ala)
c.3147A>C
c.5159A>C (p.Glu1720Ala)
c.2732A>C (p.Glu911Ala)
c.5192A>C (p.Glu1731Ala)
n.2842A>C
n.12A>C
c.5189A>C (p.Glu1730Ala)
c.5297A>C (p.Glu1766Ala)
c.5300A>C (p.Glu1767Ala)
c.5273A>C (p.Glu1758Ala)
c.5210A>C (p.Glu1737Ala)
c.5081A>C (p.Glu1694Ala)
c.5069A>C (p.Glu1690Ala)
c.5042A>C (p.Glu1681Ala)
n.5626A>C
n.5628A>C
c.5396A>C (p.Glu1799Ala)
c.5390A>C (p.Glu1797Ala)
c.5387A>C (p.Glu1796Ala)
c.5282A>C (p.Glu1761Ala)
c.5279A>C (p.Glu1760Ala)
n.5411A>C
11g.77203197A>GCA381952436MYO7Ac.5306A>G (p.Glu1769Gly)
c.3147A>G
c.5159A>G (p.Glu1720Gly)
c.2732A>G (p.Glu911Gly)
c.5192A>G (p.Glu1731Gly)
n.2842A>G
n.12A>G
c.5189A>G (p.Glu1730Gly)
c.5297A>G (p.Glu1766Gly)
c.5300A>G (p.Glu1767Gly)
c.5273A>G (p.Glu1758Gly)
c.5210A>G (p.Glu1737Gly)
c.5081A>G (p.Glu1694Gly)
c.5069A>G (p.Glu1690Gly)
c.5042A>G (p.Glu1681Gly)
n.5626A>G
n.5628A>G
c.5396A>G (p.Glu1799Gly)
c.5390A>G (p.Glu1797Gly)
c.5387A>G (p.Glu1796Gly)
c.5282A>G (p.Glu1761Gly)
c.5279A>G (p.Glu1760Gly)
n.5411A>G
11g.77203197A>TCA381952437MYO7Ac.5306A>T (p.Glu1769Val)
c.3147A>T
c.5159A>T (p.Glu1720Val)
c.2732A>T (p.Glu911Val)
c.5192A>T (p.Glu1731Val)
n.2842A>T
n.12A>T
c.5189A>T (p.Glu1730Val)
c.5297A>T (p.Glu1766Val)
c.5300A>T (p.Glu1767Val)
c.5273A>T (p.Glu1758Val)
c.5210A>T (p.Glu1737Val)
c.5081A>T (p.Glu1694Val)
c.5069A>T (p.Glu1690Val)
c.5042A>T (p.Glu1681Val)
n.5626A>T
n.5628A>T
c.5396A>T (p.Glu1799Val)
c.5390A>T (p.Glu1797Val)
c.5387A>T (p.Glu1796Val)
c.5282A>T (p.Glu1761Val)
c.5279A>T (p.Glu1760Val)
n.5411A>T
11g.77203198G>ACA475796989MYO7Ac.5307G>A (p.Glu1769=)
c.3148G>A
c.5160G>A (p.Glu1720=)
c.2733G>A (p.Glu911=)
c.5193G>A (p.Glu1731=)
n.2843G>A
n.13G>A
c.5190G>A (p.Glu1730=)
c.5298G>A (p.Glu1766=)
c.5301G>A (p.Glu1767=)
c.5274G>A (p.Glu1758=)
c.5211G>A (p.Glu1737=)
c.5082G>A (p.Glu1694=)
c.5070G>A (p.Glu1690=)
c.5043G>A (p.Glu1681=)
n.5627G>A
n.5629G>A
c.5397G>A (p.Glu1799=)
c.5391G>A (p.Glu1797=)
c.5388G>A (p.Glu1796=)
c.5283G>A (p.Glu1761=)
c.5280G>A (p.Glu1760=)
n.5412G>A
 dbSNP gnomAD v2
11g.77203198G>CCA381952438MYO7Ac.5307G>C (p.Glu1769Asp)
c.3148G>C
c.5160G>C (p.Glu1720Asp)
c.2733G>C (p.Glu911Asp)
c.5193G>C (p.Glu1731Asp)
n.2843G>C
n.13G>C
c.5190G>C (p.Glu1730Asp)
c.5298G>C (p.Glu1766Asp)
c.5301G>C (p.Glu1767Asp)
c.5274G>C (p.Glu1758Asp)
c.5211G>C (p.Glu1737Asp)
c.5082G>C (p.Glu1694Asp)
c.5070G>C (p.Glu1690Asp)
c.5043G>C (p.Glu1681Asp)
n.5627G>C
n.5629G>C
c.5397G>C (p.Glu1799Asp)
c.5391G>C (p.Glu1797Asp)
c.5388G>C (p.Glu1796Asp)
c.5283G>C (p.Glu1761Asp)
c.5280G>C (p.Glu1760Asp)
n.5412G>C
11g.77203198G=CA1984125722MYO7Ac.5307G= (p.Glu1769=)
c.3148G=
c.5160G= (p.Glu1720=)
c.2733G= (p.Glu911=)
c.5193G= (p.Glu1731=)
n.2843G=
n.13G=
c.5190G= (p.Glu1730=)
c.5298G= (p.Glu1766=)
c.5301G= (p.Glu1767=)
c.5274G= (p.Glu1758=)
c.5211G= (p.Glu1737=)
c.5082G= (p.Glu1694=)
c.5070G= (p.Glu1690=)
c.5043G= (p.Glu1681=)
n.5627G=
n.5629G=
c.5397G= (p.Glu1799=)
c.5391G= (p.Glu1797=)
c.5388G= (p.Glu1796=)
c.5283G= (p.Glu1761=)
c.5280G= (p.Glu1760=)
n.5412G=
11g.77203198G>TCA381952439MYO7Ac.5307G>T (p.Glu1769Asp)
c.3148G>T
c.5160G>T (p.Glu1720Asp)
c.2733G>T (p.Glu911Asp)
c.5193G>T (p.Glu1731Asp)
n.2843G>T
n.13G>T
c.5190G>T (p.Glu1730Asp)
c.5298G>T (p.Glu1766Asp)
c.5301G>T (p.Glu1767Asp)
c.5274G>T (p.Glu1758Asp)
c.5211G>T (p.Glu1737Asp)
c.5082G>T (p.Glu1694Asp)
c.5070G>T (p.Glu1690Asp)
c.5043G>T (p.Glu1681Asp)
n.5627G>T
n.5629G>T
c.5397G>T (p.Glu1799Asp)
c.5391G>T (p.Glu1797Asp)
c.5388G>T (p.Glu1796Asp)
c.5283G>T (p.Glu1761Asp)
c.5280G>T (p.Glu1760Asp)
n.5412G>T
 gnomAD v4
11g.77203199G>ACA381952440MYO7Ac.5308G>A (p.Ala1770Thr)
c.3149G>A
c.5161G>A (p.Ala1721Thr)
c.2734G>A (p.Ala912Thr)
c.5194G>A (p.Ala1732Thr)
n.2844G>A
n.14G>A
c.5191G>A (p.Ala1731Thr)
c.5299G>A (p.Ala1767Thr)
c.5302G>A (p.Ala1768Thr)
c.5275G>A (p.Ala1759Thr)
c.5212G>A (p.Ala1738Thr)
c.5083G>A (p.Ala1695Thr)
c.5071G>A (p.Ala1691Thr)
c.5044G>A (p.Ala1682Thr)
n.5628G>A
n.5630G>A
c.5398G>A (p.Ala1800Thr)
c.5392G>A (p.Ala1798Thr)
c.5389G>A (p.Ala1797Thr)
c.5284G>A (p.Ala1762Thr)
c.5281G>A (p.Ala1761Thr)
n.5413G>A
 dbSNP gnomAD v3 gnomAD v4
11g.77203199G>CCA381952442MYO7Ac.5308G>C (p.Ala1770Pro)
c.3149G>C
c.5161G>C (p.Ala1721Pro)
c.2734G>C (p.Ala912Pro)
c.5194G>C (p.Ala1732Pro)
n.2844G>C
n.14G>C
c.5191G>C (p.Ala1731Pro)
c.5299G>C (p.Ala1767Pro)
c.5302G>C (p.Ala1768Pro)
c.5275G>C (p.Ala1759Pro)
c.5212G>C (p.Ala1738Pro)
c.5083G>C (p.Ala1695Pro)
c.5071G>C (p.Ala1691Pro)
c.5044G>C (p.Ala1682Pro)
n.5628G>C
n.5630G>C
c.5398G>C (p.Ala1800Pro)
c.5392G>C (p.Ala1798Pro)
c.5389G>C (p.Ala1797Pro)
c.5284G>C (p.Ala1762Pro)
c.5281G>C (p.Ala1761Pro)
n.5413G>C
 dbSNP gnomAD v3 gnomAD v4
11g.77203199G=CA1984125723MYO7Ac.5308G= (p.Ala1770=)
c.3149G=
c.5161G= (p.Ala1721=)
c.2734G= (p.Ala912=)
c.5194G= (p.Ala1732=)
n.2844G=
n.14G=
c.5191G= (p.Ala1731=)
c.5299G= (p.Ala1767=)
c.5302G= (p.Ala1768=)
c.5275G= (p.Ala1759=)
c.5212G= (p.Ala1738=)
c.5083G= (p.Ala1695=)
c.5071G= (p.Ala1691=)
c.5044G= (p.Ala1682=)
n.5628G=
n.5630G=
c.5398G= (p.Ala1800=)
c.5392G= (p.Ala1798=)
c.5389G= (p.Ala1797=)
c.5284G= (p.Ala1762=)
c.5281G= (p.Ala1761=)
n.5413G=
11g.77203199G>TCA381952441MYO7Ac.5308G>T (p.Ala1770Ser)
c.3149G>T
c.5161G>T (p.Ala1721Ser)
c.2734G>T (p.Ala912Ser)
c.5194G>T (p.Ala1732Ser)
n.2844G>T
n.14G>T
c.5191G>T (p.Ala1731Ser)
c.5299G>T (p.Ala1767Ser)
c.5302G>T (p.Ala1768Ser)
c.5275G>T (p.Ala1759Ser)
c.5212G>T (p.Ala1738Ser)
c.5083G>T (p.Ala1695Ser)
c.5071G>T (p.Ala1691Ser)
c.5044G>T (p.Ala1682Ser)
n.5628G>T
n.5630G>T
c.5398G>T (p.Ala1800Ser)
c.5392G>T (p.Ala1798Ser)
c.5389G>T (p.Ala1797Ser)
c.5284G>T (p.Ala1762Ser)
c.5281G>T (p.Ala1761Ser)
n.5413G>T
 dbSNP gnomAD v4
11g.77203200C>ACA381952443MYO7Ac.5309C>A (p.Ala1770Asp)
c.3150C>A
c.5162C>A (p.Ala1721Asp)
c.2735C>A (p.Ala912Asp)
c.5195C>A (p.Ala1732Asp)
n.2845C>A
n.15C>A
c.5192C>A (p.Ala1731Asp)
c.5300C>A (p.Ala1767Asp)
c.5303C>A (p.Ala1768Asp)
c.5276C>A (p.Ala1759Asp)
c.5213C>A (p.Ala1738Asp)
c.5084C>A (p.Ala1695Asp)
c.5072C>A (p.Ala1691Asp)
c.5045C>A (p.Ala1682Asp)
n.5629C>A
n.5631C>A
c.5399C>A (p.Ala1800Asp)
c.5393C>A (p.Ala1798Asp)
c.5390C>A (p.Ala1797Asp)
c.5285C>A (p.Ala1762Asp)
c.5282C>A (p.Ala1761Asp)
n.5414C>A
 gnomAD v4 COSMIC
11g.77203200C>GCA381952444MYO7Ac.5309C>G (p.Ala1770Gly)
c.3150C>G
c.5162C>G (p.Ala1721Gly)
c.2735C>G (p.Ala912Gly)
c.5195C>G (p.Ala1732Gly)
n.2845C>G
n.15C>G
c.5192C>G (p.Ala1731Gly)
c.5300C>G (p.Ala1767Gly)
c.5303C>G (p.Ala1768Gly)
c.5276C>G (p.Ala1759Gly)
c.5213C>G (p.Ala1738Gly)
c.5084C>G (p.Ala1695Gly)
c.5072C>G (p.Ala1691Gly)
c.5045C>G (p.Ala1682Gly)
n.5629C>G
n.5631C>G
c.5399C>G (p.Ala1800Gly)
c.5393C>G (p.Ala1798Gly)
c.5390C>G (p.Ala1797Gly)
c.5285C>G (p.Ala1762Gly)
c.5282C>G (p.Ala1761Gly)
n.5414C>G
 ClinVar gnomAD v4
11g.77203200C>TCA381952445MYO7Ac.5309C>T (p.Ala1770Val)
c.3150C>T
c.5162C>T (p.Ala1721Val)
c.2735C>T (p.Ala912Val)
c.5195C>T (p.Ala1732Val)
n.2845C>T
n.15C>T
c.5192C>T (p.Ala1731Val)
c.5300C>T (p.Ala1767Val)
c.5303C>T (p.Ala1768Val)
c.5276C>T (p.Ala1759Val)
c.5213C>T (p.Ala1738Val)
c.5084C>T (p.Ala1695Val)
c.5072C>T (p.Ala1691Val)
c.5045C>T (p.Ala1682Val)
n.5629C>T
n.5631C>T
c.5399C>T (p.Ala1800Val)
c.5393C>T (p.Ala1798Val)
c.5390C>T (p.Ala1797Val)
c.5285C>T (p.Ala1762Val)
c.5282C>T (p.Ala1761Val)
n.5414C>T
 gnomAD v4
11g.77203201C>ACA475796990MYO7Ac.5310C>A (p.Ala1770=)
c.3151C>A
c.5163C>A (p.Ala1721=)
c.2736C>A (p.Ala912=)
c.5196C>A (p.Ala1732=)
n.2846C>A
n.16C>A
c.5193C>A (p.Ala1731=)
c.5301C>A (p.Ala1767=)
c.5304C>A (p.Ala1768=)
c.5277C>A (p.Ala1759=)
c.5214C>A (p.Ala1738=)
c.5085C>A (p.Ala1695=)
c.5073C>A (p.Ala1691=)
c.5046C>A (p.Ala1682=)
n.5630C>A
n.5632C>A
c.5400C>A (p.Ala1800=)
c.5394C>A (p.Ala1798=)
c.5391C>A (p.Ala1797=)
c.5286C>A (p.Ala1762=)
c.5283C>A (p.Ala1761=)
n.5415C>A
 gnomAD v4
11g.77203201C=CA1984125725MYO7Ac.5310C= (p.Ala1770=)
c.3151C=
c.5163C= (p.Ala1721=)
c.2736C= (p.Ala912=)
c.5196C= (p.Ala1732=)
n.2846C=
n.16C=
c.5193C= (p.Ala1731=)
c.5301C= (p.Ala1767=)
c.5304C= (p.Ala1768=)
c.5277C= (p.Ala1759=)
c.5214C= (p.Ala1738=)
c.5085C= (p.Ala1695=)
c.5073C= (p.Ala1691=)
c.5046C= (p.Ala1682=)
n.5630C=
n.5632C=
c.5400C= (p.Ala1800=)
c.5394C= (p.Ala1798=)
c.5391C= (p.Ala1797=)
c.5286C= (p.Ala1762=)
c.5283C= (p.Ala1761=)
n.5415C=
11g.77203201C>GCA475796991MYO7Ac.5310C>G (p.Ala1770=)
c.3151C>G
c.5163C>G (p.Ala1721=)
c.2736C>G (p.Ala912=)
c.5196C>G (p.Ala1732=)
n.2846C>G
n.16C>G
c.5193C>G (p.Ala1731=)
c.5301C>G (p.Ala1767=)
c.5304C>G (p.Ala1768=)
c.5277C>G (p.Ala1759=)
c.5214C>G (p.Ala1738=)
c.5085C>G (p.Ala1695=)
c.5073C>G (p.Ala1691=)
c.5046C>G (p.Ala1682=)
n.5630C>G
n.5632C>G
c.5400C>G (p.Ala1800=)
c.5394C>G (p.Ala1798=)
c.5391C>G (p.Ala1797=)
c.5286C>G (p.Ala1762=)
c.5283C>G (p.Ala1761=)
n.5415C>G
 dbSNP gnomAD v2 gnomAD v4
11g.77203201C>TCA475796992MYO7Ac.5310C>T (p.Ala1770=)
c.3151C>T
c.5163C>T (p.Ala1721=)
c.2736C>T (p.Ala912=)
c.5196C>T (p.Ala1732=)
n.2846C>T
n.16C>T
c.5193C>T (p.Ala1731=)
c.5301C>T (p.Ala1767=)
c.5304C>T (p.Ala1768=)
c.5277C>T (p.Ala1759=)
c.5214C>T (p.Ala1738=)
c.5085C>T (p.Ala1695=)
c.5073C>T (p.Ala1691=)
c.5046C>T (p.Ala1682=)
n.5630C>T
n.5632C>T
c.5400C>T (p.Ala1800=)
c.5394C>T (p.Ala1798=)
c.5391C>T (p.Ala1797=)
c.5286C>T (p.Ala1762=)
c.5283C>T (p.Ala1761=)
n.5415C>T
 gnomAD v4
11g.77203201_77203202delinsCTCA1984125724MYO7Ac.5310_5311delinsCT (p.Ala1770=)
c.3151_3152delinsCT
c.5163_5164delinsCT (p.Ala1721=)
c.2736_2737delinsCT (p.Ala912=)
c.5196_5197delinsCT (p.Ala1732=)
n.2846_2847delinsCT
n.16_17delinsCT
c.5193_5194delinsCT (p.Ala1731=)
c.5301_5302delinsCT (p.Ala1767=)
c.5304_5305delinsCT (p.Ala1768=)
c.5277_5278delinsCT (p.Ala1759=)
c.5214_5215delinsCT (p.Ala1738=)
c.5085_5086delinsCT (p.Ala1695=)
c.5073_5074delinsCT (p.Ala1691=)
c.5046_5047delinsCT (p.Ala1682=)
n.5630_5631delinsCT
n.5632_5633delinsCT
c.5400_5401delinsCT (p.Ala1800=)
c.5394_5395delinsCT (p.Ala1798=)
c.5391_5392delinsCT (p.Ala1797=)
c.5286_5287delinsCT (p.Ala1762=)
c.5283_5284delinsCT (p.Ala1761=)
n.5415_5416delinsCT
11g.77203202delCA680420893MYO7Ac.5311del (p.Cys1771AlafsTer?)
c.3152del
c.5164del (p.Cys1722AlafsTer?)
c.2737del (p.Cys913AlafsTer?)
c.5197del (p.Cys1733AlafsTer?)
n.2847del
n.17del
c.5194del (p.Cys1732AlafsTer?)
c.5302del (p.Cys1768AlafsTer?)
c.5305del (p.Cys1769AlafsTer?)
c.5278del (p.Cys1760AlafsTer?)
c.5215del (p.Cys1739AlafsTer?)
c.5086del (p.Cys1696AlafsTer?)
c.5074del (p.Cys1692AlafsTer?)
c.5047del (p.Cys1683AlafsTer?)
n.5631del
n.5633del
c.5401del (p.Cys1801AlafsTer?)
c.5395del (p.Cys1799AlafsTer?)
c.5392del (p.Cys1798AlafsTer?)
c.5287del (p.Cys1763AlafsTer?)
c.5284del (p.Cys1762AlafsTer?)
n.5416del
 dbSNP gnomAD v3 gnomAD v4
11g.77203202T>ACA381952446MYO7Ac.5311T>A (p.Cys1771Ser)
c.3152T>A
c.5164T>A (p.Cys1722Ser)
c.2737T>A (p.Cys913Ser)
c.5197T>A (p.Cys1733Ser)
n.2847T>A
n.17T>A
c.5194T>A (p.Cys1732Ser)
c.5302T>A (p.Cys1768Ser)
c.5305T>A (p.Cys1769Ser)
c.5278T>A (p.Cys1760Ser)
c.5215T>A (p.Cys1739Ser)
c.5086T>A (p.Cys1696Ser)
c.5074T>A (p.Cys1692Ser)
c.5047T>A (p.Cys1683Ser)
n.5631T>A
n.5633T>A
c.5401T>A (p.Cys1801Ser)
c.5395T>A (p.Cys1799Ser)
c.5392T>A (p.Cys1798Ser)
c.5287T>A (p.Cys1763Ser)
c.5284T>A (p.Cys1762Ser)
n.5416T>A
 gnomAD v4
11g.77203202T>CCA381952447MYO7Ac.5311T>C (p.Cys1771Arg)
c.3152T>C
c.5164T>C (p.Cys1722Arg)
c.2737T>C (p.Cys913Arg)
c.5197T>C (p.Cys1733Arg)
n.2847T>C
n.17T>C
c.5194T>C (p.Cys1732Arg)
c.5302T>C (p.Cys1768Arg)
c.5305T>C (p.Cys1769Arg)
c.5278T>C (p.Cys1760Arg)
c.5215T>C (p.Cys1739Arg)
c.5086T>C (p.Cys1696Arg)
c.5074T>C (p.Cys1692Arg)
c.5047T>C (p.Cys1683Arg)
n.5631T>C
n.5633T>C
c.5401T>C (p.Cys1801Arg)
c.5395T>C (p.Cys1799Arg)
c.5392T>C (p.Cys1798Arg)
c.5287T>C (p.Cys1763Arg)
c.5284T>C (p.Cys1762Arg)
n.5416T>C
 gnomAD v4
11g.77203202T>GCA381952448MYO7Ac.5311T>G (p.Cys1771Gly)
c.3152T>G
c.5164T>G (p.Cys1722Gly)
c.2737T>G (p.Cys913Gly)
c.5197T>G (p.Cys1733Gly)
n.2847T>G
n.17T>G
c.5194T>G (p.Cys1732Gly)
c.5302T>G (p.Cys1768Gly)
c.5305T>G (p.Cys1769Gly)
c.5278T>G (p.Cys1760Gly)
c.5215T>G (p.Cys1739Gly)
c.5086T>G (p.Cys1696Gly)
c.5074T>G (p.Cys1692Gly)
c.5047T>G (p.Cys1683Gly)
n.5631T>G
n.5633T>G
c.5401T>G (p.Cys1801Gly)
c.5395T>G (p.Cys1799Gly)
c.5392T>G (p.Cys1798Gly)
c.5287T>G (p.Cys1763Gly)
c.5284T>G (p.Cys1762Gly)
n.5416T>G
 dbSNP gnomAD v3 gnomAD v4
11g.77203202T=CA1984125726MYO7Ac.5311T= (p.Cys1771=)
c.3152T=
c.5164T= (p.Cys1722=)
c.2737T= (p.Cys913=)
c.5197T= (p.Cys1733=)
n.2847T=
n.17T=
c.5194T= (p.Cys1732=)
c.5302T= (p.Cys1768=)
c.5305T= (p.Cys1769=)
c.5278T= (p.Cys1760=)
c.5215T= (p.Cys1739=)
c.5086T= (p.Cys1696=)
c.5074T= (p.Cys1692=)
c.5047T= (p.Cys1683=)
n.5631T=
n.5633T=
c.5401T= (p.Cys1801=)
c.5395T= (p.Cys1799=)
c.5392T= (p.Cys1798=)
c.5287T= (p.Cys1763=)
c.5284T= (p.Cys1762=)
n.5416T=
11g.77203203G>ACA381952449MYO7Ac.5312G>A (p.Cys1771Tyr)
c.3153G>A
c.5165G>A (p.Cys1722Tyr)
c.2738G>A (p.Cys913Tyr)
c.5198G>A (p.Cys1733Tyr)
n.2848G>A
n.18G>A
c.5195G>A (p.Cys1732Tyr)
c.5303G>A (p.Cys1768Tyr)
c.5306G>A (p.Cys1769Tyr)
c.5279G>A (p.Cys1760Tyr)
c.5216G>A (p.Cys1739Tyr)
c.5087G>A (p.Cys1696Tyr)
c.5075G>A (p.Cys1692Tyr)
c.5048G>A (p.Cys1683Tyr)
n.5632G>A
n.5634G>A
c.5402G>A (p.Cys1801Tyr)
c.5396G>A (p.Cys1799Tyr)
c.5393G>A (p.Cys1798Tyr)
c.5288G>A (p.Cys1763Tyr)
c.5285G>A (p.Cys1762Tyr)
n.5417G>A
 gnomAD v4 COSMIC
11g.77203203G>CCA6198669MYO7Ac.5312G>C (p.Cys1771Ser)
c.3153G>C
c.5165G>C (p.Cys1722Ser)
c.2738G>C (p.Cys913Ser)
c.5198G>C (p.Cys1733Ser)
n.2848G>C
n.18G>C
c.5195G>C (p.Cys1732Ser)
c.5303G>C (p.Cys1768Ser)
c.5306G>C (p.Cys1769Ser)
c.5279G>C (p.Cys1760Ser)
c.5216G>C (p.Cys1739Ser)
c.5087G>C (p.Cys1696Ser)
c.5075G>C (p.Cys1692Ser)
c.5048G>C (p.Cys1683Ser)
n.5632G>C
n.5634G>C
c.5402G>C (p.Cys1801Ser)
c.5396G>C (p.Cys1799Ser)
c.5393G>C (p.Cys1798Ser)
c.5288G>C (p.Cys1763Ser)
c.5285G>C (p.Cys1762Ser)
n.5417G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77203203G=CA1984125727MYO7Ac.5312G= (p.Cys1771=)
c.3153G=
c.5165G= (p.Cys1722=)
c.2738G= (p.Cys913=)
c.5198G= (p.Cys1733=)
n.2848G=
n.18G=
c.5195G= (p.Cys1732=)
c.5303G= (p.Cys1768=)
c.5306G= (p.Cys1769=)
c.5279G= (p.Cys1760=)
c.5216G= (p.Cys1739=)
c.5087G= (p.Cys1696=)
c.5075G= (p.Cys1692=)
c.5048G= (p.Cys1683=)
n.5632G=
n.5634G=
c.5402G= (p.Cys1801=)
c.5396G= (p.Cys1799=)
c.5393G= (p.Cys1798=)
c.5288G= (p.Cys1763=)
c.5285G= (p.Cys1762=)
n.5417G=
11g.77203203G>TCA381952450MYO7Ac.5312G>T (p.Cys1771Phe)
c.3153G>T
c.5165G>T (p.Cys1722Phe)
c.2738G>T (p.Cys913Phe)
c.5198G>T (p.Cys1733Phe)
n.2848G>T
n.18G>T
c.5195G>T (p.Cys1732Phe)
c.5303G>T (p.Cys1768Phe)
c.5306G>T (p.Cys1769Phe)
c.5279G>T (p.Cys1760Phe)
c.5216G>T (p.Cys1739Phe)
c.5087G>T (p.Cys1696Phe)
c.5075G>T (p.Cys1692Phe)
c.5048G>T (p.Cys1683Phe)
n.5632G>T
n.5634G>T
c.5402G>T (p.Cys1801Phe)
c.5396G>T (p.Cys1799Phe)
c.5393G>T (p.Cys1798Phe)
c.5288G>T (p.Cys1763Phe)
c.5285G>T (p.Cys1762Phe)
n.5417G>T
 gnomAD v4
11g.77203204C>ACA381952451MYO7Ac.5313C>A (p.Cys1771Ter)
c.3154C>A
c.5166C>A (p.Cys1722Ter)
c.2739C>A (p.Cys913Ter)
c.5199C>A (p.Cys1733Ter)
n.2849C>A
n.19C>A
c.5196C>A (p.Cys1732Ter)
c.5304C>A (p.Cys1768Ter)
c.5307C>A (p.Cys1769Ter)
c.5280C>A (p.Cys1760Ter)
c.5217C>A (p.Cys1739Ter)
c.5088C>A (p.Cys1696Ter)
c.5076C>A (p.Cys1692Ter)
c.5049C>A (p.Cys1683Ter)
n.5633C>A
n.5635C>A
c.5403C>A (p.Cys1801Ter)
c.5397C>A (p.Cys1799Ter)
c.5394C>A (p.Cys1798Ter)
c.5289C>A (p.Cys1763Ter)
c.5286C>A (p.Cys1762Ter)
n.5418C>A
 gnomAD v4
11g.77203204C>GCA381952452MYO7Ac.5313C>G (p.Cys1771Trp)
c.3154C>G
c.5166C>G (p.Cys1722Trp)
c.2739C>G (p.Cys913Trp)
c.5199C>G (p.Cys1733Trp)
n.2849C>G
n.19C>G
c.5196C>G (p.Cys1732Trp)
c.5304C>G (p.Cys1768Trp)
c.5307C>G (p.Cys1769Trp)
c.5280C>G (p.Cys1760Trp)
c.5217C>G (p.Cys1739Trp)
c.5088C>G (p.Cys1696Trp)
c.5076C>G (p.Cys1692Trp)
c.5049C>G (p.Cys1683Trp)
n.5633C>G
n.5635C>G
c.5403C>G (p.Cys1801Trp)
c.5397C>G (p.Cys1799Trp)
c.5394C>G (p.Cys1798Trp)
c.5289C>G (p.Cys1763Trp)
c.5286C>G (p.Cys1762Trp)
n.5418C>G
11g.77203204C>TCA475796993MYO7Ac.5313C>T (p.Cys1771=)
c.3154C>T
c.5166C>T (p.Cys1722=)
c.2739C>T (p.Cys913=)
c.5199C>T (p.Cys1733=)
n.2849C>T
n.19C>T
c.5196C>T (p.Cys1732=)
c.5304C>T (p.Cys1768=)
c.5307C>T (p.Cys1769=)
c.5280C>T (p.Cys1760=)
c.5217C>T (p.Cys1739=)
c.5088C>T (p.Cys1696=)
c.5076C>T (p.Cys1692=)
c.5049C>T (p.Cys1683=)
n.5633C>T
n.5635C>T
c.5403C>T (p.Cys1801=)
c.5397C>T (p.Cys1799=)
c.5394C>T (p.Cys1798=)
c.5289C>T (p.Cys1763=)
c.5286C>T (p.Cys1762=)
n.5418C>T
 gnomAD v4
11g.77203205C>ACA381952453MYO7Ac.5314C>A (p.Leu1772Met)
c.3155C>A
c.5167C>A (p.Leu1723Met)
c.2740C>A (p.Leu914Met)
c.5200C>A (p.Leu1734Met)
n.2850C>A
n.20C>A
c.5197C>A (p.Leu1733Met)
c.5305C>A (p.Leu1769Met)
c.5308C>A (p.Leu1770Met)
c.5281C>A (p.Leu1761Met)
c.5218C>A (p.Leu1740Met)
c.5089C>A (p.Leu1697Met)
c.5077C>A (p.Leu1693Met)
c.5050C>A (p.Leu1684Met)
n.5634C>A
n.5636C>A
c.5404C>A (p.Leu1802Met)
c.5398C>A (p.Leu1800Met)
c.5395C>A (p.Leu1799Met)
c.5290C>A (p.Leu1764Met)
c.5287C>A (p.Leu1763Met)
n.5419C>A
 gnomAD v4
11g.77203205C>GCA381952454MYO7Ac.5314C>G (p.Leu1772Val)
c.3155C>G
c.5167C>G (p.Leu1723Val)
c.2740C>G (p.Leu914Val)
c.5200C>G (p.Leu1734Val)
n.2850C>G
n.20C>G
c.5197C>G (p.Leu1733Val)
c.5305C>G (p.Leu1769Val)
c.5308C>G (p.Leu1770Val)
c.5281C>G (p.Leu1761Val)
c.5218C>G (p.Leu1740Val)
c.5089C>G (p.Leu1697Val)
c.5077C>G (p.Leu1693Val)
c.5050C>G (p.Leu1684Val)
n.5634C>G
n.5636C>G
c.5404C>G (p.Leu1802Val)
c.5398C>G (p.Leu1800Val)
c.5395C>G (p.Leu1799Val)
c.5290C>G (p.Leu1764Val)
c.5287C>G (p.Leu1763Val)
n.5419C>G
11g.77203205C>TCA475796994MYO7Ac.5314C>T (p.Leu1772=)
c.3155C>T
c.5167C>T (p.Leu1723=)
c.2740C>T (p.Leu914=)
c.5200C>T (p.Leu1734=)
n.2850C>T
n.20C>T
c.5197C>T (p.Leu1733=)
c.5305C>T (p.Leu1769=)
c.5308C>T (p.Leu1770=)
c.5281C>T (p.Leu1761=)
c.5218C>T (p.Leu1740=)
c.5089C>T (p.Leu1697=)
c.5077C>T (p.Leu1693=)
c.5050C>T (p.Leu1684=)
n.5634C>T
n.5636C>T
c.5404C>T (p.Leu1802=)
c.5398C>T (p.Leu1800=)
c.5395C>T (p.Leu1799=)
c.5290C>T (p.Leu1764=)
c.5287C>T (p.Leu1763=)
n.5419C>T
 ClinVar dbSNP gnomAD v4
11g.77203206T>ACA381952455MYO7Ac.5315T>A (p.Leu1772Gln)
c.3156T>A
c.5168T>A (p.Leu1723Gln)
c.2741T>A (p.Leu914Gln)
c.5201T>A (p.Leu1734Gln)
n.2851T>A
n.21T>A
c.5198T>A (p.Leu1733Gln)
c.5306T>A (p.Leu1769Gln)
c.5309T>A (p.Leu1770Gln)
c.5282T>A (p.Leu1761Gln)
c.5219T>A (p.Leu1740Gln)
c.5090T>A (p.Leu1697Gln)
c.5078T>A (p.Leu1693Gln)
c.5051T>A (p.Leu1684Gln)
n.5635T>A
n.5637T>A
c.5405T>A (p.Leu1802Gln)
c.5399T>A (p.Leu1800Gln)
c.5396T>A (p.Leu1799Gln)
c.5291T>A (p.Leu1764Gln)
c.5288T>A (p.Leu1763Gln)
n.5420T>A
 gnomAD v4
11g.77203206T>CCA381952457MYO7Ac.5315T>C (p.Leu1772Pro)
c.3156T>C
c.5168T>C (p.Leu1723Pro)
c.2741T>C (p.Leu914Pro)
c.5201T>C (p.Leu1734Pro)
n.2851T>C
n.21T>C
c.5198T>C (p.Leu1733Pro)
c.5306T>C (p.Leu1769Pro)
c.5309T>C (p.Leu1770Pro)
c.5282T>C (p.Leu1761Pro)
c.5219T>C (p.Leu1740Pro)
c.5090T>C (p.Leu1697Pro)
c.5078T>C (p.Leu1693Pro)
c.5051T>C (p.Leu1684Pro)
n.5635T>C
n.5637T>C
c.5405T>C (p.Leu1802Pro)
c.5399T>C (p.Leu1800Pro)
c.5396T>C (p.Leu1799Pro)
c.5291T>C (p.Leu1764Pro)
c.5288T>C (p.Leu1763Pro)
n.5420T>C
 ClinVar dbSNP gnomAD v4
11g.77203206T>GCA381952456MYO7Ac.5315T>G (p.Leu1772Arg)
c.3156T>G
c.5168T>G (p.Leu1723Arg)
c.2741T>G (p.Leu914Arg)
c.5201T>G (p.Leu1734Arg)
n.2851T>G
n.21T>G
c.5198T>G (p.Leu1733Arg)
c.5306T>G (p.Leu1769Arg)
c.5309T>G (p.Leu1770Arg)
c.5282T>G (p.Leu1761Arg)
c.5219T>G (p.Leu1740Arg)
c.5090T>G (p.Leu1697Arg)
c.5078T>G (p.Leu1693Arg)
c.5051T>G (p.Leu1684Arg)
n.5635T>G
n.5637T>G
c.5405T>G (p.Leu1802Arg)
c.5399T>G (p.Leu1800Arg)
c.5396T>G (p.Leu1799Arg)
c.5291T>G (p.Leu1764Arg)
c.5288T>G (p.Leu1763Arg)
n.5420T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77203206T=CA1984125728MYO7Ac.5315T= (p.Leu1772=)
c.3156T=
c.5168T= (p.Leu1723=)
c.2741T= (p.Leu914=)
c.5201T= (p.Leu1734=)
n.2851T=
n.21T=
c.5198T= (p.Leu1733=)
c.5306T= (p.Leu1769=)
c.5309T= (p.Leu1770=)
c.5282T= (p.Leu1761=)
c.5219T= (p.Leu1740=)
c.5090T= (p.Leu1697=)
c.5078T= (p.Leu1693=)
c.5051T= (p.Leu1684=)
n.5635T=
n.5637T=
c.5405T= (p.Leu1802=)
c.5399T= (p.Leu1800=)
c.5396T= (p.Leu1799=)
c.5291T= (p.Leu1764=)
c.5288T= (p.Leu1763=)
n.5420T=
11g.77203207G>ACA6198670MYO7Ac.5316G>A (p.Leu1772=)
c.3157G>A
c.5169G>A (p.Leu1723=)
c.2742G>A (p.Leu914=)
c.5202G>A (p.Leu1734=)
n.2852G>A
n.22G>A
c.5199G>A (p.Leu1733=)
c.5307G>A (p.Leu1769=)
c.5310G>A (p.Leu1770=)
c.5283G>A (p.Leu1761=)
c.5220G>A (p.Leu1740=)
c.5091G>A (p.Leu1697=)
c.5079G>A (p.Leu1693=)
c.5052G>A (p.Leu1684=)
n.5636G>A
n.5638G>A
c.5406G>A (p.Leu1802=)
c.5400G>A (p.Leu1800=)
c.5397G>A (p.Leu1799=)
c.5292G>A (p.Leu1764=)
c.5289G>A (p.Leu1763=)
n.5421G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77203207G>CCA475796995MYO7Ac.5316G>C (p.Leu1772=)
c.3157G>C
c.5169G>C (p.Leu1723=)
c.2742G>C (p.Leu914=)
c.5202G>C (p.Leu1734=)
n.2852G>C
n.22G>C
c.5199G>C (p.Leu1733=)
c.5307G>C (p.Leu1769=)
c.5310G>C (p.Leu1770=)
c.5283G>C (p.Leu1761=)
c.5220G>C (p.Leu1740=)
c.5091G>C (p.Leu1697=)
c.5079G>C (p.Leu1693=)
c.5052G>C (p.Leu1684=)
n.5636G>C
n.5638G>C
c.5406G>C (p.Leu1802=)
c.5400G>C (p.Leu1800=)
c.5397G>C (p.Leu1799=)
c.5292G>C (p.Leu1764=)
c.5289G>C (p.Leu1763=)
n.5421G>C
 gnomAD v4
11g.77203207G=CA1984125729MYO7Ac.5316G= (p.Leu1772=)
c.3157G=
c.5169G= (p.Leu1723=)
c.2742G= (p.Leu914=)
c.5202G= (p.Leu1734=)
n.2852G=
n.22G=
c.5199G= (p.Leu1733=)
c.5307G= (p.Leu1769=)
c.5310G= (p.Leu1770=)
c.5283G= (p.Leu1761=)
c.5220G= (p.Leu1740=)
c.5091G= (p.Leu1697=)
c.5079G= (p.Leu1693=)
c.5052G= (p.Leu1684=)
n.5636G=
n.5638G=
c.5406G= (p.Leu1802=)
c.5400G= (p.Leu1800=)
c.5397G= (p.Leu1799=)
c.5292G= (p.Leu1764=)
c.5289G= (p.Leu1763=)
n.5421G=
11g.77203207G>TCA475796996MYO7Ac.5316G>T (p.Leu1772=)
c.3157G>T
c.5169G>T (p.Leu1723=)
c.2742G>T (p.Leu914=)
c.5202G>T (p.Leu1734=)
n.2852G>T
n.22G>T
c.5199G>T (p.Leu1733=)
c.5307G>T (p.Leu1769=)
c.5310G>T (p.Leu1770=)
c.5283G>T (p.Leu1761=)
c.5220G>T (p.Leu1740=)
c.5091G>T (p.Leu1697=)
c.5079G>T (p.Leu1693=)
c.5052G>T (p.Leu1684=)
n.5636G>T
n.5638G>T
c.5406G>T (p.Leu1802=)
c.5400G>T (p.Leu1800=)
c.5397G>T (p.Leu1799=)
c.5292G>T (p.Leu1764=)
c.5289G>T (p.Leu1763=)
n.5421G>T
 gnomAD v4
11g.77203208G>ACA381952458MYO7Ac.5317G>A (p.Ala1773Thr)
c.3158G>A
c.5170G>A (p.Ala1724Thr)
c.2743G>A (p.Ala915Thr)
c.5203G>A (p.Ala1735Thr)
n.2853G>A
n.23G>A
c.5200G>A (p.Ala1734Thr)
c.5308G>A (p.Ala1770Thr)
c.5311G>A (p.Ala1771Thr)
c.5284G>A (p.Ala1762Thr)
c.5221G>A (p.Ala1741Thr)
c.5092G>A (p.Ala1698Thr)
c.5080G>A (p.Ala1694Thr)
c.5053G>A (p.Ala1685Thr)
n.5637G>A
n.5639G>A
c.5407G>A (p.Ala1803Thr)
c.5401G>A (p.Ala1801Thr)
c.5398G>A (p.Ala1800Thr)
c.5293G>A (p.Ala1765Thr)
c.5290G>A (p.Ala1764Thr)
n.5422G>A
 gnomAD v4
11g.77203208G>CCA381952459MYO7Ac.5317G>C (p.Ala1773Pro)
c.3158G>C
c.5170G>C (p.Ala1724Pro)
c.2743G>C (p.Ala915Pro)
c.5203G>C (p.Ala1735Pro)
n.2853G>C
n.23G>C
c.5200G>C (p.Ala1734Pro)
c.5308G>C (p.Ala1770Pro)
c.5311G>C (p.Ala1771Pro)
c.5284G>C (p.Ala1762Pro)
c.5221G>C (p.Ala1741Pro)
c.5092G>C (p.Ala1698Pro)
c.5080G>C (p.Ala1694Pro)
c.5053G>C (p.Ala1685Pro)
n.5637G>C
n.5639G>C
c.5407G>C (p.Ala1803Pro)
c.5401G>C (p.Ala1801Pro)
c.5398G>C (p.Ala1800Pro)
c.5293G>C (p.Ala1765Pro)
c.5290G>C (p.Ala1764Pro)
n.5422G>C
11g.77203208G>TCA381952460MYO7Ac.5317G>T (p.Ala1773Ser)
c.3158G>T
c.5170G>T (p.Ala1724Ser)
c.2743G>T (p.Ala915Ser)
c.5203G>T (p.Ala1735Ser)
n.2853G>T
n.23G>T
c.5200G>T (p.Ala1734Ser)
c.5308G>T (p.Ala1770Ser)
c.5311G>T (p.Ala1771Ser)
c.5284G>T (p.Ala1762Ser)
c.5221G>T (p.Ala1741Ser)
c.5092G>T (p.Ala1698Ser)
c.5080G>T (p.Ala1694Ser)
c.5053G>T (p.Ala1685Ser)
n.5637G>T
n.5639G>T
c.5407G>T (p.Ala1803Ser)
c.5401G>T (p.Ala1801Ser)
c.5398G>T (p.Ala1800Ser)
c.5293G>T (p.Ala1765Ser)
c.5290G>T (p.Ala1764Ser)
n.5422G>T
 gnomAD v4
11g.77203209C>ACA381952461MYO7Ac.5318C>A (p.Ala1773Asp)
c.3159C>A
c.5171C>A (p.Ala1724Asp)
c.2744C>A (p.Ala915Asp)
c.5204C>A (p.Ala1735Asp)
n.2854C>A
n.24C>A
c.5201C>A (p.Ala1734Asp)
c.5309C>A (p.Ala1770Asp)
c.5312C>A (p.Ala1771Asp)
c.5285C>A (p.Ala1762Asp)
c.5222C>A (p.Ala1741Asp)
c.5093C>A (p.Ala1698Asp)
c.5081C>A (p.Ala1694Asp)
c.5054C>A (p.Ala1685Asp)
n.5638C>A
n.5640C>A
c.5408C>A (p.Ala1803Asp)
c.5402C>A (p.Ala1801Asp)
c.5399C>A (p.Ala1800Asp)
c.5294C>A (p.Ala1765Asp)
c.5291C>A (p.Ala1764Asp)
n.5423C>A
 dbSNP gnomAD v2 gnomAD v4
11g.77203209C=CA1984125730MYO7Ac.5318C= (p.Ala1773=)
c.3159C=
c.5171C= (p.Ala1724=)
c.2744C= (p.Ala915=)
c.5204C= (p.Ala1735=)
n.2854C=
n.24C=
c.5201C= (p.Ala1734=)
c.5309C= (p.Ala1770=)
c.5312C= (p.Ala1771=)
c.5285C= (p.Ala1762=)
c.5222C= (p.Ala1741=)
c.5093C= (p.Ala1698=)
c.5081C= (p.Ala1694=)
c.5054C= (p.Ala1685=)
n.5638C=
n.5640C=
c.5408C= (p.Ala1803=)
c.5402C= (p.Ala1801=)
c.5399C= (p.Ala1800=)
c.5294C= (p.Ala1765=)
c.5291C= (p.Ala1764=)
n.5423C=
11g.77203209C>GCA381952462MYO7Ac.5318C>G (p.Ala1773Gly)
c.3159C>G
c.5171C>G (p.Ala1724Gly)
c.2744C>G (p.Ala915Gly)
c.5204C>G (p.Ala1735Gly)
n.2854C>G
n.24C>G
c.5201C>G (p.Ala1734Gly)
c.5309C>G (p.Ala1770Gly)
c.5312C>G (p.Ala1771Gly)
c.5285C>G (p.Ala1762Gly)
c.5222C>G (p.Ala1741Gly)
c.5093C>G (p.Ala1698Gly)
c.5081C>G (p.Ala1694Gly)
c.5054C>G (p.Ala1685Gly)
n.5638C>G
n.5640C>G
c.5408C>G (p.Ala1803Gly)
c.5402C>G (p.Ala1801Gly)
c.5399C>G (p.Ala1800Gly)
c.5294C>G (p.Ala1765Gly)
c.5291C>G (p.Ala1764Gly)
n.5423C>G
11g.77203209C>TCA381952463MYO7Ac.5318C>T (p.Ala1773Val)
c.3159C>T
c.5171C>T (p.Ala1724Val)
c.2744C>T (p.Ala915Val)
c.5204C>T (p.Ala1735Val)
n.2854C>T
n.24C>T
c.5201C>T (p.Ala1734Val)
c.5309C>T (p.Ala1770Val)
c.5312C>T (p.Ala1771Val)
c.5285C>T (p.Ala1762Val)
c.5222C>T (p.Ala1741Val)
c.5093C>T (p.Ala1698Val)
c.5081C>T (p.Ala1694Val)
c.5054C>T (p.Ala1685Val)
n.5638C>T
n.5640C>T
c.5408C>T (p.Ala1803Val)
c.5402C>T (p.Ala1801Val)
c.5399C>T (p.Ala1800Val)
c.5294C>T (p.Ala1765Val)
c.5291C>T (p.Ala1764Val)
n.5423C>T
 gnomAD v4
11g.77203210C>ACA475796997MYO7Ac.5319C>A (p.Ala1773=)
c.3160C>A
c.5172C>A (p.Ala1724=)
c.2745C>A (p.Ala915=)
c.5205C>A (p.Ala1735=)
n.2855C>A
n.25C>A
c.5202C>A (p.Ala1734=)
c.5310C>A (p.Ala1770=)
c.5313C>A (p.Ala1771=)
c.5286C>A (p.Ala1762=)
c.5223C>A (p.Ala1741=)
c.5094C>A (p.Ala1698=)
c.5082C>A (p.Ala1694=)
c.5055C>A (p.Ala1685=)
n.5639C>A
n.5641C>A
c.5409C>A (p.Ala1803=)
c.5403C>A (p.Ala1801=)
c.5400C>A (p.Ala1800=)
c.5295C>A (p.Ala1765=)
c.5292C>A (p.Ala1764=)
n.5424C>A
 gnomAD v4
11g.77203210C>GCA475796999MYO7Ac.5319C>G (p.Ala1773=)
c.3160C>G
c.5172C>G (p.Ala1724=)
c.2745C>G (p.Ala915=)
c.5205C>G (p.Ala1735=)
n.2855C>G
n.25C>G
c.5202C>G (p.Ala1734=)
c.5310C>G (p.Ala1770=)
c.5313C>G (p.Ala1771=)
c.5286C>G (p.Ala1762=)
c.5223C>G (p.Ala1741=)
c.5094C>G (p.Ala1698=)
c.5082C>G (p.Ala1694=)
c.5055C>G (p.Ala1685=)
n.5639C>G
n.5641C>G
c.5409C>G (p.Ala1803=)
c.5403C>G (p.Ala1801=)
c.5400C>G (p.Ala1800=)
c.5295C>G (p.Ala1765=)
c.5292C>G (p.Ala1764=)
n.5424C>G
 gnomAD v4
11g.77203210C>TCA475796998MYO7Ac.5319C>T (p.Ala1773=)
c.3160C>T
c.5172C>T (p.Ala1724=)
c.2745C>T (p.Ala915=)
c.5205C>T (p.Ala1735=)
n.2855C>T
n.25C>T
c.5202C>T (p.Ala1734=)
c.5310C>T (p.Ala1770=)
c.5313C>T (p.Ala1771=)
c.5286C>T (p.Ala1762=)
c.5223C>T (p.Ala1741=)
c.5094C>T (p.Ala1698=)
c.5082C>T (p.Ala1694=)
c.5055C>T (p.Ala1685=)
n.5639C>T
n.5641C>T
c.5409C>T (p.Ala1803=)
c.5403C>T (p.Ala1801=)
c.5400C>T (p.Ala1800=)
c.5295C>T (p.Ala1765=)
c.5292C>T (p.Ala1764=)
n.5424C>T
 gnomAD v4
11g.77203211T>ACA381952464MYO7Ac.5320T>A (p.Phe1774Ile)
c.3161T>A
c.5173T>A (p.Phe1725Ile)
c.2746T>A (p.Phe916Ile)
c.5206T>A (p.Phe1736Ile)
n.2856T>A
n.26T>A
c.5203T>A (p.Phe1735Ile)
c.5311T>A (p.Phe1771Ile)
c.5314T>A (p.Phe1772Ile)
c.5287T>A (p.Phe1763Ile)
c.5224T>A (p.Phe1742Ile)
c.5095T>A (p.Phe1699Ile)
c.5083T>A (p.Phe1695Ile)
c.5056T>A (p.Phe1686Ile)
n.5640T>A
n.5642T>A
c.5410T>A (p.Phe1804Ile)
c.5404T>A (p.Phe1802Ile)
c.5401T>A (p.Phe1801Ile)
c.5296T>A (p.Phe1766Ile)
c.5293T>A (p.Phe1765Ile)
n.5425T>A
11g.77203211T>CCA381952465MYO7Ac.5320T>C (p.Phe1774Leu)
c.3161T>C
c.5173T>C (p.Phe1725Leu)
c.2746T>C (p.Phe916Leu)
c.5206T>C (p.Phe1736Leu)
n.2856T>C
n.26T>C
c.5203T>C (p.Phe1735Leu)
c.5311T>C (p.Phe1771Leu)
c.5314T>C (p.Phe1772Leu)
c.5287T>C (p.Phe1763Leu)
c.5224T>C (p.Phe1742Leu)
c.5095T>C (p.Phe1699Leu)
c.5083T>C (p.Phe1695Leu)
c.5056T>C (p.Phe1686Leu)
n.5640T>C
n.5642T>C
c.5410T>C (p.Phe1804Leu)
c.5404T>C (p.Phe1802Leu)
c.5401T>C (p.Phe1801Leu)
c.5296T>C (p.Phe1766Leu)
c.5293T>C (p.Phe1765Leu)
n.5425T>C
 ClinVar gnomAD v4
11g.77203211T>GCA381952466MYO7Ac.5320T>G (p.Phe1774Val)
c.3161T>G
c.5173T>G (p.Phe1725Val)
c.2746T>G (p.Phe916Val)
c.5206T>G (p.Phe1736Val)
n.2856T>G
n.26T>G
c.5203T>G (p.Phe1735Val)
c.5311T>G (p.Phe1771Val)
c.5314T>G (p.Phe1772Val)
c.5287T>G (p.Phe1763Val)
c.5224T>G (p.Phe1742Val)
c.5095T>G (p.Phe1699Val)
c.5083T>G (p.Phe1695Val)
c.5056T>G (p.Phe1686Val)
n.5640T>G
n.5642T>G
c.5410T>G (p.Phe1804Val)
c.5404T>G (p.Phe1802Val)
c.5401T>G (p.Phe1801Val)
c.5296T>G (p.Phe1766Val)
c.5293T>G (p.Phe1765Val)
n.5425T>G
11g.77203212T>ACA381952469MYO7Ac.5321T>A (p.Phe1774Tyr)
c.3162T>A
c.5174T>A (p.Phe1725Tyr)
c.2747T>A (p.Phe916Tyr)
c.5207T>A (p.Phe1736Tyr)
n.2857T>A
n.27T>A
c.5204T>A (p.Phe1735Tyr)
c.5312T>A (p.Phe1771Tyr)
c.5315T>A (p.Phe1772Tyr)
c.5288T>A (p.Phe1763Tyr)
c.5225T>A (p.Phe1742Tyr)
c.5096T>A (p.Phe1699Tyr)
c.5084T>A (p.Phe1695Tyr)
c.5057T>A (p.Phe1686Tyr)
n.5641T>A
n.5643T>A
c.5411T>A (p.Phe1804Tyr)
c.5405T>A (p.Phe1802Tyr)
c.5402T>A (p.Phe1801Tyr)
c.5297T>A (p.Phe1766Tyr)
c.5294T>A (p.Phe1765Tyr)
n.5426T>A
11g.77203212T>CCA381952468MYO7Ac.5321T>C (p.Phe1774Ser)
c.3162T>C
c.5174T>C (p.Phe1725Ser)
c.2747T>C (p.Phe916Ser)
c.5207T>C (p.Phe1736Ser)
n.2857T>C
n.27T>C
c.5204T>C (p.Phe1735Ser)
c.5312T>C (p.Phe1771Ser)
c.5315T>C (p.Phe1772Ser)
c.5288T>C (p.Phe1763Ser)
c.5225T>C (p.Phe1742Ser)
c.5096T>C (p.Phe1699Ser)
c.5084T>C (p.Phe1695Ser)
c.5057T>C (p.Phe1686Ser)
n.5641T>C
n.5643T>C
c.5411T>C (p.Phe1804Ser)
c.5405T>C (p.Phe1802Ser)
c.5402T>C (p.Phe1801Ser)
c.5297T>C (p.Phe1766Ser)
c.5294T>C (p.Phe1765Ser)
n.5426T>C
 gnomAD v4
11g.77203212T>GCA381952467MYO7Ac.5321T>G (p.Phe1774Cys)
c.3162T>G
c.5174T>G (p.Phe1725Cys)
c.2747T>G (p.Phe916Cys)
c.5207T>G (p.Phe1736Cys)
n.2857T>G
n.27T>G
c.5204T>G (p.Phe1735Cys)
c.5312T>G (p.Phe1771Cys)
c.5315T>G (p.Phe1772Cys)
c.5288T>G (p.Phe1763Cys)
c.5225T>G (p.Phe1742Cys)
c.5096T>G (p.Phe1699Cys)
c.5084T>G (p.Phe1695Cys)
c.5057T>G (p.Phe1686Cys)
n.5641T>G
n.5643T>G
c.5411T>G (p.Phe1804Cys)
c.5405T>G (p.Phe1802Cys)
c.5402T>G (p.Phe1801Cys)
c.5297T>G (p.Phe1766Cys)
c.5294T>G (p.Phe1765Cys)
n.5426T>G
11g.77203213C>ACA381952470MYO7Ac.5322C>A (p.Phe1774Leu)
c.3163C>A
c.5175C>A (p.Phe1725Leu)
c.2748C>A (p.Phe916Leu)
c.5208C>A (p.Phe1736Leu)
n.2858C>A
n.28C>A
c.5205C>A (p.Phe1735Leu)
c.5313C>A (p.Phe1771Leu)
c.5316C>A (p.Phe1772Leu)
c.5289C>A (p.Phe1763Leu)
c.5226C>A (p.Phe1742Leu)
c.5097C>A (p.Phe1699Leu)
c.5085C>A (p.Phe1695Leu)
c.5058C>A (p.Phe1686Leu)
n.5642C>A
n.5644C>A
c.5412C>A (p.Phe1804Leu)
c.5406C>A (p.Phe1802Leu)
c.5403C>A (p.Phe1801Leu)
c.5298C>A (p.Phe1766Leu)
c.5295C>A (p.Phe1765Leu)
n.5427C>A
 gnomAD v4
11g.77203213C>GCA381952471MYO7Ac.5322C>G (p.Phe1774Leu)
c.3163C>G
c.5175C>G (p.Phe1725Leu)
c.2748C>G (p.Phe916Leu)
c.5208C>G (p.Phe1736Leu)
n.2858C>G
n.28C>G
c.5205C>G (p.Phe1735Leu)
c.5313C>G (p.Phe1771Leu)
c.5316C>G (p.Phe1772Leu)
c.5289C>G (p.Phe1763Leu)
c.5226C>G (p.Phe1742Leu)
c.5097C>G (p.Phe1699Leu)
c.5085C>G (p.Phe1695Leu)
c.5058C>G (p.Phe1686Leu)
n.5642C>G
n.5644C>G
c.5412C>G (p.Phe1804Leu)
c.5406C>G (p.Phe1802Leu)
c.5403C>G (p.Phe1801Leu)
c.5298C>G (p.Phe1766Leu)
c.5295C>G (p.Phe1765Leu)
n.5427C>G
11g.77203213C>TCA475797000MYO7Ac.5322C>T (p.Phe1774=)
c.3163C>T
c.5175C>T (p.Phe1725=)
c.2748C>T (p.Phe916=)
c.5208C>T (p.Phe1736=)
n.2858C>T
n.28C>T
c.5205C>T (p.Phe1735=)
c.5313C>T (p.Phe1771=)
c.5316C>T (p.Phe1772=)
c.5289C>T (p.Phe1763=)
c.5226C>T (p.Phe1742=)
c.5097C>T (p.Phe1699=)
c.5085C>T (p.Phe1695=)
c.5058C>T (p.Phe1686=)
n.5642C>T
n.5644C>T
c.5412C>T (p.Phe1804=)
c.5406C>T (p.Phe1802=)
c.5403C>T (p.Phe1801=)
c.5298C>T (p.Phe1766=)
c.5295C>T (p.Phe1765=)
n.5427C>T
 ClinVar dbSNP gnomAD v4
11g.77203214A=CA1984125731MYO7Ac.5323A= (p.Ile1775=)
c.3164A=
c.5176A= (p.Ile1726=)
c.2749A= (p.Ile917=)
c.5209A= (p.Ile1737=)
n.2859A=
n.29A=
c.5206A= (p.Ile1736=)
c.5314A= (p.Ile1772=)
c.5317A= (p.Ile1773=)
c.5290A= (p.Ile1764=)
c.5227A= (p.Ile1743=)
c.5098A= (p.Ile1700=)
c.5086A= (p.Ile1696=)
c.5059A= (p.Ile1687=)
n.5643A=
n.5645A=
c.5413A= (p.Ile1805=)
c.5407A= (p.Ile1803=)
c.5404A= (p.Ile1802=)
c.5299A= (p.Ile1767=)
c.5296A= (p.Ile1766=)
n.5428A=
11g.77203214A>CCA381952472MYO7Ac.5323A>C (p.Ile1775Leu)
c.3164A>C
c.5176A>C (p.Ile1726Leu)
c.2749A>C (p.Ile917Leu)
c.5209A>C (p.Ile1737Leu)
n.2859A>C
n.29A>C
c.5206A>C (p.Ile1736Leu)
c.5314A>C (p.Ile1772Leu)
c.5317A>C (p.Ile1773Leu)
c.5290A>C (p.Ile1764Leu)
c.5227A>C (p.Ile1743Leu)
c.5098A>C (p.Ile1700Leu)
c.5086A>C (p.Ile1696Leu)
c.5059A>C (p.Ile1687Leu)
n.5643A>C
n.5645A>C
c.5413A>C (p.Ile1805Leu)
c.5407A>C (p.Ile1803Leu)
c.5404A>C (p.Ile1802Leu)
c.5299A>C (p.Ile1767Leu)
c.5296A>C (p.Ile1766Leu)
n.5428A>C
11g.77203214A>GCA381952473MYO7Ac.5323A>G (p.Ile1775Val)
c.3164A>G
c.5176A>G (p.Ile1726Val)
c.2749A>G (p.Ile917Val)
c.5209A>G (p.Ile1737Val)
n.2859A>G
n.29A>G
c.5206A>G (p.Ile1736Val)
c.5314A>G (p.Ile1772Val)
c.5317A>G (p.Ile1773Val)
c.5290A>G (p.Ile1764Val)
c.5227A>G (p.Ile1743Val)
c.5098A>G (p.Ile1700Val)
c.5086A>G (p.Ile1696Val)
c.5059A>G (p.Ile1687Val)
n.5643A>G
n.5645A>G
c.5413A>G (p.Ile1805Val)
c.5407A>G (p.Ile1803Val)
c.5404A>G (p.Ile1802Val)
c.5299A>G (p.Ile1767Val)
c.5296A>G (p.Ile1766Val)
n.5428A>G
 dbSNP gnomAD v2 gnomAD v4
11g.77203214A>TCA381952474MYO7Ac.5323A>T (p.Ile1775Phe)
c.3164A>T
c.5176A>T (p.Ile1726Phe)
c.2749A>T (p.Ile917Phe)
c.5209A>T (p.Ile1737Phe)
n.2859A>T
n.29A>T
c.5206A>T (p.Ile1736Phe)
c.5314A>T (p.Ile1772Phe)
c.5317A>T (p.Ile1773Phe)
c.5290A>T (p.Ile1764Phe)
c.5227A>T (p.Ile1743Phe)
c.5098A>T (p.Ile1700Phe)
c.5086A>T (p.Ile1696Phe)
c.5059A>T (p.Ile1687Phe)
n.5643A>T
n.5645A>T
c.5413A>T (p.Ile1805Phe)
c.5407A>T (p.Ile1803Phe)
c.5404A>T (p.Ile1802Phe)
c.5299A>T (p.Ile1767Phe)
c.5296A>T (p.Ile1766Phe)
n.5428A>T
 gnomAD v4
11g.77203215T>ACA381952475MYO7Ac.5324T>A (p.Ile1775Asn)
c.3165T>A
c.5177T>A (p.Ile1726Asn)
c.2750T>A (p.Ile917Asn)
c.5210T>A (p.Ile1737Asn)
n.2860T>A
n.30T>A
c.5207T>A (p.Ile1736Asn)
c.5315T>A (p.Ile1772Asn)
c.5318T>A (p.Ile1773Asn)
c.5291T>A (p.Ile1764Asn)
c.5228T>A (p.Ile1743Asn)
c.5099T>A (p.Ile1700Asn)
c.5087T>A (p.Ile1696Asn)
c.5060T>A (p.Ile1687Asn)
n.5644T>A
n.5646T>A
c.5414T>A (p.Ile1805Asn)
c.5408T>A (p.Ile1803Asn)
c.5405T>A (p.Ile1802Asn)
c.5300T>A (p.Ile1767Asn)
c.5297T>A (p.Ile1766Asn)
n.5429T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77203215T>CCA202663MYO7Ac.5324T>C (p.Ile1775Thr)
c.3165T>C
c.5177T>C (p.Ile1726Thr)
c.2750T>C (p.Ile917Thr)
c.5210T>C (p.Ile1737Thr)
n.2860T>C
n.30T>C
c.5207T>C (p.Ile1736Thr)
c.5315T>C (p.Ile1772Thr)
c.5318T>C (p.Ile1773Thr)
c.5291T>C (p.Ile1764Thr)
c.5228T>C (p.Ile1743Thr)
c.5099T>C (p.Ile1700Thr)
c.5087T>C (p.Ile1696Thr)
c.5060T>C (p.Ile1687Thr)
n.5644T>C
n.5646T>C
c.5414T>C (p.Ile1805Thr)
c.5408T>C (p.Ile1803Thr)
c.5405T>C (p.Ile1802Thr)
c.5300T>C (p.Ile1767Thr)
c.5297T>C (p.Ile1766Thr)
n.5429T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77203215T>GCA381952476MYO7Ac.5324T>G (p.Ile1775Ser)
c.3165T>G
c.5177T>G (p.Ile1726Ser)
c.2750T>G (p.Ile917Ser)
c.5210T>G (p.Ile1737Ser)
n.2860T>G
n.30T>G
c.5207T>G (p.Ile1736Ser)
c.5315T>G (p.Ile1772Ser)
c.5318T>G (p.Ile1773Ser)
c.5291T>G (p.Ile1764Ser)
c.5228T>G (p.Ile1743Ser)
c.5099T>G (p.Ile1700Ser)
c.5087T>G (p.Ile1696Ser)
c.5060T>G (p.Ile1687Ser)
n.5644T>G
n.5646T>G
c.5414T>G (p.Ile1805Ser)
c.5408T>G (p.Ile1803Ser)
c.5405T>G (p.Ile1802Ser)
c.5300T>G (p.Ile1767Ser)
c.5297T>G (p.Ile1766Ser)
n.5429T>G
11g.77203215T=CA1984125732MYO7Ac.5324T= (p.Ile1775=)
c.3165T=
c.5177T= (p.Ile1726=)
c.2750T= (p.Ile917=)
c.5210T= (p.Ile1737=)
n.2860T=
n.30T=
c.5207T= (p.Ile1736=)
c.5315T= (p.Ile1772=)
c.5318T= (p.Ile1773=)
c.5291T= (p.Ile1764=)
c.5228T= (p.Ile1743=)
c.5099T= (p.Ile1700=)
c.5087T= (p.Ile1696=)
c.5060T= (p.Ile1687=)
n.5644T=
n.5646T=
c.5414T= (p.Ile1805=)
c.5408T= (p.Ile1803=)
c.5405T= (p.Ile1802=)
c.5300T= (p.Ile1767=)
c.5297T= (p.Ile1766=)
n.5429T=
11g.77203216T>ACA475797001MYO7Ac.5325T>A (p.Ile1775=)
c.3166T>A
c.5178T>A (p.Ile1726=)
c.2751T>A (p.Ile917=)
c.5211T>A (p.Ile1737=)
n.2861T>A
n.31T>A
c.5208T>A (p.Ile1736=)
c.5316T>A (p.Ile1772=)
c.5319T>A (p.Ile1773=)
c.5292T>A (p.Ile1764=)
c.5229T>A (p.Ile1743=)
c.5100T>A (p.Ile1700=)
c.5088T>A (p.Ile1696=)
c.5061T>A (p.Ile1687=)
n.5645T>A
n.5647T>A
c.5415T>A (p.Ile1805=)
c.5409T>A (p.Ile1803=)
c.5406T>A (p.Ile1802=)
c.5301T>A (p.Ile1767=)
c.5298T>A (p.Ile1766=)
n.5430T>A
11g.77203216T>CCA475797002MYO7Ac.5325T>C (p.Ile1775=)
c.3166T>C
c.5178T>C (p.Ile1726=)
c.2751T>C (p.Ile917=)
c.5211T>C (p.Ile1737=)
n.2861T>C
n.31T>C
c.5208T>C (p.Ile1736=)
c.5316T>C (p.Ile1772=)
c.5319T>C (p.Ile1773=)
c.5292T>C (p.Ile1764=)
c.5229T>C (p.Ile1743=)
c.5100T>C (p.Ile1700=)
c.5088T>C (p.Ile1696=)
c.5061T>C (p.Ile1687=)
n.5645T>C
n.5647T>C
c.5415T>C (p.Ile1805=)
c.5409T>C (p.Ile1803=)
c.5406T>C (p.Ile1802=)
c.5301T>C (p.Ile1767=)
c.5298T>C (p.Ile1766=)
n.5430T>C
 gnomAD v4
11g.77203216T>GCA381952477MYO7Ac.5325T>G (p.Ile1775Met)
c.3166T>G
c.5178T>G (p.Ile1726Met)
c.2751T>G (p.Ile917Met)
c.5211T>G (p.Ile1737Met)
n.2861T>G
n.31T>G
c.5208T>G (p.Ile1736Met)
c.5316T>G (p.Ile1772Met)
c.5319T>G (p.Ile1773Met)
c.5292T>G (p.Ile1764Met)
c.5229T>G (p.Ile1743Met)
c.5100T>G (p.Ile1700Met)
c.5088T>G (p.Ile1696Met)
c.5061T>G (p.Ile1687Met)
n.5645T>G
n.5647T>G
c.5415T>G (p.Ile1805Met)
c.5409T>G (p.Ile1803Met)
c.5406T>G (p.Ile1802Met)
c.5301T>G (p.Ile1767Met)
c.5298T>G (p.Ile1766Met)
n.5430T>G
 gnomAD v4
11g.77203217G>ACA381952478MYO7Ac.5326G>A (p.Ala1776Thr)
c.3167G>A
c.5179G>A (p.Ala1727Thr)
c.2752G>A (p.Ala918Thr)
c.5212G>A (p.Ala1738Thr)
n.2862G>A
n.32G>A
c.5209G>A (p.Ala1737Thr)
c.5317G>A (p.Ala1773Thr)
c.5320G>A (p.Ala1774Thr)
c.5293G>A (p.Ala1765Thr)
c.5230G>A (p.Ala1744Thr)
c.5101G>A (p.Ala1701Thr)
c.5089G>A (p.Ala1697Thr)
c.5062G>A (p.Ala1688Thr)
n.5646G>A
n.5648G>A
c.5416G>A (p.Ala1806Thr)
c.5410G>A (p.Ala1804Thr)
c.5407G>A (p.Ala1803Thr)
c.5302G>A (p.Ala1768Thr)
c.5299G>A (p.Ala1767Thr)
n.5431G>A
 gnomAD v4
11g.77203217G>CCA381952479MYO7Ac.5326G>C (p.Ala1776Pro)
c.3167G>C
c.5179G>C (p.Ala1727Pro)
c.2752G>C (p.Ala918Pro)
c.5212G>C (p.Ala1738Pro)
n.2862G>C
n.32G>C
c.5209G>C (p.Ala1737Pro)
c.5317G>C (p.Ala1773Pro)
c.5320G>C (p.Ala1774Pro)
c.5293G>C (p.Ala1765Pro)
c.5230G>C (p.Ala1744Pro)
c.5101G>C (p.Ala1701Pro)
c.5089G>C (p.Ala1697Pro)
c.5062G>C (p.Ala1688Pro)
n.5646G>C
n.5648G>C
c.5416G>C (p.Ala1806Pro)
c.5410G>C (p.Ala1804Pro)
c.5407G>C (p.Ala1803Pro)
c.5302G>C (p.Ala1768Pro)
c.5299G>C (p.Ala1767Pro)
n.5431G>C
11g.77203217G>TCA381952480MYO7Ac.5326G>T (p.Ala1776Ser)
c.3167G>T
c.5179G>T (p.Ala1727Ser)
c.2752G>T (p.Ala918Ser)
c.5212G>T (p.Ala1738Ser)
n.2862G>T
n.32G>T
c.5209G>T (p.Ala1737Ser)
c.5317G>T (p.Ala1773Ser)
c.5320G>T (p.Ala1774Ser)
c.5293G>T (p.Ala1765Ser)
c.5230G>T (p.Ala1744Ser)
c.5101G>T (p.Ala1701Ser)
c.5089G>T (p.Ala1697Ser)
c.5062G>T (p.Ala1688Ser)
n.5646G>T
n.5648G>T
c.5416G>T (p.Ala1806Ser)
c.5410G>T (p.Ala1804Ser)
c.5407G>T (p.Ala1803Ser)
c.5302G>T (p.Ala1768Ser)
c.5299G>T (p.Ala1767Ser)
n.5431G>T
 gnomAD v4
11g.77203218A>CCA381952482MYO7Ac.5326+1A>C (n.5326+1A>C)
c.3167+1A>C
c.5179+1A>C (n.5179+1A>C)
c.2752+1A>C (n.2752+1A>C)
c.5212+1A>C (n.5212+1A>C)
n.2862+1A>C
n.32+1A>C
c.5209+1A>C (n.5209+1A>C)
c.5317+1A>C (n.5317+1A>C)
c.5320+1A>C (n.5320+1A>C)
c.5293+1A>C (n.5293+1A>C)
c.5230+1A>C (n.5230+1A>C)
c.5101+1A>C (n.5101+1A>C)
c.5089+1A>C (n.5089+1A>C)
c.5062+1A>C (n.5062+1A>C)
n.5646+1A>C
n.5648+1A>C
c.5416+1A>C (n.5416+1A>C)
c.5410+1A>C (n.5410+1A>C)
c.5407+1A>C (n.5407+1A>C)
c.5302+1A>C (n.5302+1A>C)
c.5299+1A>C (n.5299+1A>C)
n.5431+1A>C
11g.77203218A>GCA381952483MYO7Ac.5326+1A>G (n.5326+1A>G)
c.3167+1A>G
c.5179+1A>G (n.5179+1A>G)
c.2752+1A>G (n.2752+1A>G)
c.5212+1A>G (n.5212+1A>G)
n.2862+1A>G
n.32+1A>G
c.5209+1A>G (n.5209+1A>G)
c.5317+1A>G (n.5317+1A>G)
c.5320+1A>G (n.5320+1A>G)
c.5293+1A>G (n.5293+1A>G)
c.5230+1A>G (n.5230+1A>G)
c.5101+1A>G (n.5101+1A>G)
c.5089+1A>G (n.5089+1A>G)
c.5062+1A>G (n.5062+1A>G)
n.5646+1A>G
n.5648+1A>G
c.5416+1A>G (n.5416+1A>G)
c.5410+1A>G (n.5410+1A>G)
c.5407+1A>G (n.5407+1A>G)
c.5302+1A>G (n.5302+1A>G)
c.5299+1A>G (n.5299+1A>G)
n.5431+1A>G
 gnomAD v4
11g.77203218A>TCA381952481MYO7Ac.5326+1A>T (n.5326+1A>T)
c.3167+1A>T
c.5179+1A>T (n.5179+1A>T)
c.2752+1A>T (n.2752+1A>T)
c.5212+1A>T (n.5212+1A>T)
n.2862+1A>T
n.32+1A>T
c.5209+1A>T (n.5209+1A>T)
c.5317+1A>T (n.5317+1A>T)
c.5320+1A>T (n.5320+1A>T)
c.5293+1A>T (n.5293+1A>T)
c.5230+1A>T (n.5230+1A>T)
c.5101+1A>T (n.5101+1A>T)
c.5089+1A>T (n.5089+1A>T)
c.5062+1A>T (n.5062+1A>T)
n.5646+1A>T
n.5648+1A>T
c.5416+1A>T (n.5416+1A>T)
c.5410+1A>T (n.5410+1A>T)
c.5407+1A>T (n.5407+1A>T)
c.5302+1A>T (n.5302+1A>T)
c.5299+1A>T (n.5299+1A>T)
n.5431+1A>T
 gnomAD v4
11g.77203219T>ACA381952484MYO7Ac.5326+2T>A (n.5326+2T>A)
c.3167+2T>A
c.5179+2T>A (n.5179+2T>A)
c.2752+2T>A (n.2752+2T>A)
c.5212+2T>A (n.5212+2T>A)
n.2862+2T>A
n.32+2T>A
c.5209+2T>A (n.5209+2T>A)
c.5317+2T>A (n.5317+2T>A)
c.5320+2T>A (n.5320+2T>A)
c.5293+2T>A (n.5293+2T>A)
c.5230+2T>A (n.5230+2T>A)
c.5101+2T>A (n.5101+2T>A)
c.5089+2T>A (n.5089+2T>A)
c.5062+2T>A (n.5062+2T>A)
n.5646+2T>A
n.5648+2T>A
c.5416+2T>A (n.5416+2T>A)
c.5410+2T>A (n.5410+2T>A)
c.5407+2T>A (n.5407+2T>A)
c.5302+2T>A (n.5302+2T>A)
c.5299+2T>A (n.5299+2T>A)
n.5431+2T>A
11g.77203219T>CCA381952485MYO7Ac.5326+2T>C (n.5326+2T>C)
c.3167+2T>C
c.5179+2T>C (n.5179+2T>C)
c.2752+2T>C (n.2752+2T>C)
c.5212+2T>C (n.5212+2T>C)
n.2862+2T>C
n.32+2T>C
c.5209+2T>C (n.5209+2T>C)
c.5317+2T>C (n.5317+2T>C)
c.5320+2T>C (n.5320+2T>C)
c.5293+2T>C (n.5293+2T>C)
c.5230+2T>C (n.5230+2T>C)
c.5101+2T>C (n.5101+2T>C)
c.5089+2T>C (n.5089+2T>C)
c.5062+2T>C (n.5062+2T>C)
n.5646+2T>C
n.5648+2T>C
c.5416+2T>C (n.5416+2T>C)
c.5410+2T>C (n.5410+2T>C)
c.5407+2T>C (n.5407+2T>C)
c.5302+2T>C (n.5302+2T>C)
c.5299+2T>C (n.5299+2T>C)
n.5431+2T>C
 gnomAD v4
11g.77203219T>GCA381952486MYO7Ac.5326+2T>G (n.5326+2T>G)
c.3167+2T>G
c.5179+2T>G (n.5179+2T>G)
c.2752+2T>G (n.2752+2T>G)
c.5212+2T>G (n.5212+2T>G)
n.2862+2T>G
n.32+2T>G
c.5209+2T>G (n.5209+2T>G)
c.5317+2T>G (n.5317+2T>G)
c.5320+2T>G (n.5320+2T>G)
c.5293+2T>G (n.5293+2T>G)
c.5230+2T>G (n.5230+2T>G)
c.5101+2T>G (n.5101+2T>G)
c.5089+2T>G (n.5089+2T>G)
c.5062+2T>G (n.5062+2T>G)
n.5646+2T>G
n.5648+2T>G
c.5416+2T>G (n.5416+2T>G)
c.5410+2T>G (n.5410+2T>G)
c.5407+2T>G (n.5407+2T>G)
c.5302+2T>G (n.5302+2T>G)
c.5299+2T>G (n.5299+2T>G)
n.5431+2T>G
11g.77203220A=CA1984125733MYO7Ac.5326+3A= (n.5326+3A=)
c.3167+3A=
c.5179+3A= (n.5179+3A=)
c.2752+3A= (n.2752+3A=)
c.5212+3A= (n.5212+3A=)
n.2862+3A=
n.32+3A=
c.5209+3A= (n.5209+3A=)
c.5317+3A= (n.5317+3A=)
c.5320+3A= (n.5320+3A=)
c.5293+3A= (n.5293+3A=)
c.5230+3A= (n.5230+3A=)
c.5101+3A= (n.5101+3A=)
c.5089+3A= (n.5089+3A=)
c.5062+3A= (n.5062+3A=)
n.5646+3A=
n.5648+3A=
c.5416+3A= (n.5416+3A=)
c.5410+3A= (n.5410+3A=)
c.5407+3A= (n.5407+3A=)
c.5302+3A= (n.5302+3A=)
c.5299+3A= (n.5299+3A=)
n.5431+3A=
11g.77203220A>GCA658822327MYO7Ac.5326+3A>G (n.5326+3A>G)
c.3167+3A>G
c.5179+3A>G (n.5179+3A>G)
c.2752+3A>G (n.2752+3A>G)
c.5212+3A>G (n.5212+3A>G)
n.2862+3A>G
n.32+3A>G
c.5209+3A>G (n.5209+3A>G)
c.5317+3A>G (n.5317+3A>G)
c.5320+3A>G (n.5320+3A>G)
c.5293+3A>G (n.5293+3A>G)
c.5230+3A>G (n.5230+3A>G)
c.5101+3A>G (n.5101+3A>G)
c.5089+3A>G (n.5089+3A>G)
c.5062+3A>G (n.5062+3A>G)
n.5646+3A>G
n.5648+3A>G
c.5416+3A>G (n.5416+3A>G)
c.5410+3A>G (n.5410+3A>G)
c.5407+3A>G (n.5407+3A>G)
c.5302+3A>G (n.5302+3A>G)
c.5299+3A>G (n.5299+3A>G)
n.5431+3A>G
 ClinVar dbSNP
11g.77203221T>ACA2792790409MYO7Ac.5326+4T>A (n.5326+4T>A)
c.3167+4T>A
c.5179+4T>A (n.5179+4T>A)
c.2752+4T>A (n.2752+4T>A)
c.5212+4T>A (n.5212+4T>A)
n.2862+4T>A
n.32+4T>A
c.5209+4T>A (n.5209+4T>A)
c.5317+4T>A (n.5317+4T>A)
c.5320+4T>A (n.5320+4T>A)
c.5293+4T>A (n.5293+4T>A)
c.5230+4T>A (n.5230+4T>A)
c.5101+4T>A (n.5101+4T>A)
c.5089+4T>A (n.5089+4T>A)
c.5062+4T>A (n.5062+4T>A)
n.5646+4T>A
n.5648+4T>A
c.5416+4T>A (n.5416+4T>A)
c.5410+4T>A (n.5410+4T>A)
c.5407+4T>A (n.5407+4T>A)
c.5302+4T>A (n.5302+4T>A)
c.5299+4T>A (n.5299+4T>A)
n.5431+4T>A
11g.77203221T>CCA224852723MYO7Ac.5326+4T>C (n.5326+4T>C)
c.3167+4T>C
c.5179+4T>C (n.5179+4T>C)
c.2752+4T>C (n.2752+4T>C)
c.5212+4T>C (n.5212+4T>C)
n.2862+4T>C
n.32+4T>C
c.5209+4T>C (n.5209+4T>C)
c.5317+4T>C (n.5317+4T>C)
c.5320+4T>C (n.5320+4T>C)
c.5293+4T>C (n.5293+4T>C)
c.5230+4T>C (n.5230+4T>C)
c.5101+4T>C (n.5101+4T>C)
c.5089+4T>C (n.5089+4T>C)
c.5062+4T>C (n.5062+4T>C)
n.5646+4T>C
n.5648+4T>C
c.5416+4T>C (n.5416+4T>C)
c.5410+4T>C (n.5410+4T>C)
c.5407+4T>C (n.5407+4T>C)
c.5302+4T>C (n.5302+4T>C)
c.5299+4T>C (n.5299+4T>C)
n.5431+4T>C
 dbSNP gnomAD v4
11g.77203221T=CA1984125734MYO7Ac.5326+4T= (n.5326+4T=)
c.3167+4T=
c.5179+4T= (n.5179+4T=)
c.2752+4T= (n.2752+4T=)
c.5212+4T= (n.5212+4T=)
n.2862+4T=
n.32+4T=
c.5209+4T= (n.5209+4T=)
c.5317+4T= (n.5317+4T=)
c.5320+4T= (n.5320+4T=)
c.5293+4T= (n.5293+4T=)
c.5230+4T= (n.5230+4T=)
c.5101+4T= (n.5101+4T=)
c.5089+4T= (n.5089+4T=)
c.5062+4T= (n.5062+4T=)
n.5646+4T=
n.5648+4T=
c.5416+4T= (n.5416+4T=)
c.5410+4T= (n.5410+4T=)
c.5407+4T= (n.5407+4T=)
c.5302+4T= (n.5302+4T=)
c.5299+4T= (n.5299+4T=)
n.5431+4T=
11g.77203222C>ACA2615262435MYO7Ac.5326+5C>A (n.5326+5C>A)
c.3167+5C>A
c.5179+5C>A (n.5179+5C>A)
c.2752+5C>A (n.2752+5C>A)
c.5212+5C>A (n.5212+5C>A)
n.2862+5C>A
n.32+5C>A
c.5209+5C>A (n.5209+5C>A)
c.5317+5C>A (n.5317+5C>A)
c.5320+5C>A (n.5320+5C>A)
c.5293+5C>A (n.5293+5C>A)
c.5230+5C>A (n.5230+5C>A)
c.5101+5C>A (n.5101+5C>A)
c.5089+5C>A (n.5089+5C>A)
c.5062+5C>A (n.5062+5C>A)
n.5646+5C>A
n.5648+5C>A
c.5416+5C>A (n.5416+5C>A)
c.5410+5C>A (n.5410+5C>A)
c.5407+5C>A (n.5407+5C>A)
c.5302+5C>A (n.5302+5C>A)
c.5299+5C>A (n.5299+5C>A)
n.5431+5C>A
 gnomAD v4
11g.77203222C>GCA2615262437MYO7Ac.5326+5C>G (n.5326+5C>G)
c.3167+5C>G
c.5179+5C>G (n.5179+5C>G)
c.2752+5C>G (n.2752+5C>G)
c.5212+5C>G (n.5212+5C>G)
n.2862+5C>G
n.32+5C>G
c.5209+5C>G (n.5209+5C>G)
c.5317+5C>G (n.5317+5C>G)
c.5320+5C>G (n.5320+5C>G)
c.5293+5C>G (n.5293+5C>G)
c.5230+5C>G (n.5230+5C>G)
c.5101+5C>G (n.5101+5C>G)
c.5089+5C>G (n.5089+5C>G)
c.5062+5C>G (n.5062+5C>G)
n.5646+5C>G
n.5648+5C>G
c.5416+5C>G (n.5416+5C>G)
c.5410+5C>G (n.5410+5C>G)
c.5407+5C>G (n.5407+5C>G)
c.5302+5C>G (n.5302+5C>G)
c.5299+5C>G (n.5299+5C>G)
n.5431+5C>G
 gnomAD v4
11g.77203222C>TCA2615262436MYO7Ac.5326+5C>T (n.5326+5C>T)
c.3167+5C>T
c.5179+5C>T (n.5179+5C>T)
c.2752+5C>T (n.2752+5C>T)
c.5212+5C>T (n.5212+5C>T)
n.2862+5C>T
n.32+5C>T
c.5209+5C>T (n.5209+5C>T)
c.5317+5C>T (n.5317+5C>T)
c.5320+5C>T (n.5320+5C>T)
c.5293+5C>T (n.5293+5C>T)
c.5230+5C>T (n.5230+5C>T)
c.5101+5C>T (n.5101+5C>T)
c.5089+5C>T (n.5089+5C>T)
c.5062+5C>T (n.5062+5C>T)
n.5646+5C>T
n.5648+5C>T
c.5416+5C>T (n.5416+5C>T)
c.5410+5C>T (n.5410+5C>T)
c.5407+5C>T (n.5407+5C>T)
c.5302+5C>T (n.5302+5C>T)
c.5299+5C>T (n.5299+5C>T)
n.5431+5C>T
 gnomAD v4
11g.77203222_77203223insACACA2792790410MYO7Ac.5326+5_5326+6insACA (n.5326+5_5326+6insACA)
c.3167+5_3167+6insACA
c.5179+5_5179+6insACA (n.5179+5_5179+6insACA)
c.2752+5_2752+6insACA (n.2752+5_2752+6insACA)
c.5212+5_5212+6insACA (n.5212+5_5212+6insACA)
n.2862+5_2862+6insACA
n.32+5_32+6insACA
c.5209+5_5209+6insACA (n.5209+5_5209+6insACA)
c.5317+5_5317+6insACA (n.5317+5_5317+6insACA)
c.5320+5_5320+6insACA (n.5320+5_5320+6insACA)
c.5293+5_5293+6insACA (n.5293+5_5293+6insACA)
c.5230+5_5230+6insACA (n.5230+5_5230+6insACA)
c.5101+5_5101+6insACA (n.5101+5_5101+6insACA)
c.5089+5_5089+6insACA (n.5089+5_5089+6insACA)
c.5062+5_5062+6insACA (n.5062+5_5062+6insACA)
n.5646+5_5646+6insACA
n.5648+5_5648+6insACA
c.5416+5_5416+6insACA (n.5416+5_5416+6insACA)
c.5410+5_5410+6insACA (n.5410+5_5410+6insACA)
c.5407+5_5407+6insACA (n.5407+5_5407+6insACA)
c.5302+5_5302+6insACA (n.5302+5_5302+6insACA)
c.5299+5_5299+6insACA (n.5299+5_5299+6insACA)
n.5431+5_5431+6insACA
11g.77203223C>ACA1984125736MYO7Ac.5326+6C>A (n.5326+6C>A)
c.3167+6C>A
c.5179+6C>A (n.5179+6C>A)
c.2752+6C>A (n.2752+6C>A)
c.5212+6C>A (n.5212+6C>A)
n.2862+6C>A
n.32+6C>A
c.5209+6C>A (n.5209+6C>A)
c.5317+6C>A (n.5317+6C>A)
c.5320+6C>A (n.5320+6C>A)
c.5293+6C>A (n.5293+6C>A)
c.5230+6C>A (n.5230+6C>A)
c.5101+6C>A (n.5101+6C>A)
c.5089+6C>A (n.5089+6C>A)
c.5062+6C>A (n.5062+6C>A)
n.5646+6C>A
n.5648+6C>A
c.5416+6C>A (n.5416+6C>A)
c.5410+6C>A (n.5410+6C>A)
c.5407+6C>A (n.5407+6C>A)
c.5302+6C>A (n.5302+6C>A)
c.5299+6C>A (n.5299+6C>A)
n.5431+6C>A
 dbSNP gnomAD v4
11g.77203223C=CA1984125735MYO7Ac.5326+6C= (n.5326+6C=)
c.3167+6C=
c.5179+6C= (n.5179+6C=)
c.2752+6C= (n.2752+6C=)
c.5212+6C= (n.5212+6C=)
n.2862+6C=
n.32+6C=
c.5209+6C= (n.5209+6C=)
c.5317+6C= (n.5317+6C=)
c.5320+6C= (n.5320+6C=)
c.5293+6C= (n.5293+6C=)
c.5230+6C= (n.5230+6C=)
c.5101+6C= (n.5101+6C=)
c.5089+6C= (n.5089+6C=)
c.5062+6C= (n.5062+6C=)
n.5646+6C=
n.5648+6C=
c.5416+6C= (n.5416+6C=)
c.5410+6C= (n.5410+6C=)
c.5407+6C= (n.5407+6C=)
c.5302+6C= (n.5302+6C=)
c.5299+6C= (n.5299+6C=)
n.5431+6C=
11g.77203223C>TCA224852726MYO7Ac.5326+6C>T (n.5326+6C>T)
c.3167+6C>T
c.5179+6C>T (n.5179+6C>T)
c.2752+6C>T (n.2752+6C>T)
c.5212+6C>T (n.5212+6C>T)
n.2862+6C>T
n.32+6C>T
c.5209+6C>T (n.5209+6C>T)
c.5317+6C>T (n.5317+6C>T)
c.5320+6C>T (n.5320+6C>T)
c.5293+6C>T (n.5293+6C>T)
c.5230+6C>T (n.5230+6C>T)
c.5101+6C>T (n.5101+6C>T)
c.5089+6C>T (n.5089+6C>T)
c.5062+6C>T (n.5062+6C>T)
n.5646+6C>T
n.5648+6C>T
c.5416+6C>T (n.5416+6C>T)
c.5410+6C>T (n.5410+6C>T)
c.5407+6C>T (n.5407+6C>T)
c.5302+6C>T (n.5302+6C>T)
c.5299+6C>T (n.5299+6C>T)
n.5431+6C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77203224G>ACA6198671MYO7Ac.5326+7G>A (n.5326+7G>A)
c.3167+7G>A
c.5179+7G>A (n.5179+7G>A)
c.2752+7G>A (n.2752+7G>A)
c.5212+7G>A (n.5212+7G>A)
n.2862+7G>A
n.32+7G>A
c.5209+7G>A (n.5209+7G>A)
c.5317+7G>A (n.5317+7G>A)
c.5320+7G>A (n.5320+7G>A)
c.5293+7G>A (n.5293+7G>A)
c.5230+7G>A (n.5230+7G>A)
c.5101+7G>A (n.5101+7G>A)
c.5089+7G>A (n.5089+7G>A)
c.5062+7G>A (n.5062+7G>A)
n.5646+7G>A
n.5648+7G>A
c.5416+7G>A (n.5416+7G>A)
c.5410+7G>A (n.5410+7G>A)
c.5407+7G>A (n.5407+7G>A)
c.5302+7G>A (n.5302+7G>A)
c.5299+7G>A (n.5299+7G>A)
n.5431+7G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77203224G>CCA2615262439MYO7Ac.5326+7G>C (n.5326+7G>C)
c.3167+7G>C
c.5179+7G>C (n.5179+7G>C)
c.2752+7G>C (n.2752+7G>C)
c.5212+7G>C (n.5212+7G>C)
n.2862+7G>C
n.32+7G>C
c.5209+7G>C (n.5209+7G>C)
c.5317+7G>C (n.5317+7G>C)
c.5320+7G>C (n.5320+7G>C)
c.5293+7G>C (n.5293+7G>C)
c.5230+7G>C (n.5230+7G>C)
c.5101+7G>C (n.5101+7G>C)
c.5089+7G>C (n.5089+7G>C)
c.5062+7G>C (n.5062+7G>C)
n.5646+7G>C
n.5648+7G>C
c.5416+7G>C (n.5416+7G>C)
c.5410+7G>C (n.5410+7G>C)
c.5407+7G>C (n.5407+7G>C)
c.5302+7G>C (n.5302+7G>C)
c.5299+7G>C (n.5299+7G>C)
n.5431+7G>C
 gnomAD v4
11g.77203224G=CA1984125737MYO7Ac.5326+7G= (n.5326+7G=)
c.3167+7G=
c.5179+7G= (n.5179+7G=)
c.2752+7G= (n.2752+7G=)
c.5212+7G= (n.5212+7G=)
n.2862+7G=
n.32+7G=
c.5209+7G= (n.5209+7G=)
c.5317+7G= (n.5317+7G=)
c.5320+7G= (n.5320+7G=)
c.5293+7G= (n.5293+7G=)
c.5230+7G= (n.5230+7G=)
c.5101+7G= (n.5101+7G=)
c.5089+7G= (n.5089+7G=)
c.5062+7G= (n.5062+7G=)
n.5646+7G=
n.5648+7G=
c.5416+7G= (n.5416+7G=)
c.5410+7G= (n.5410+7G=)
c.5407+7G= (n.5407+7G=)
c.5302+7G= (n.5302+7G=)
c.5299+7G= (n.5299+7G=)
n.5431+7G=
11g.77203224G>TCA2615262440MYO7Ac.5326+7G>T (n.5326+7G>T)
c.3167+7G>T
c.5179+7G>T (n.5179+7G>T)
c.2752+7G>T (n.2752+7G>T)
c.5212+7G>T (n.5212+7G>T)
n.2862+7G>T
n.32+7G>T
c.5209+7G>T (n.5209+7G>T)
c.5317+7G>T (n.5317+7G>T)
c.5320+7G>T (n.5320+7G>T)
c.5293+7G>T (n.5293+7G>T)
c.5230+7G>T (n.5230+7G>T)
c.5101+7G>T (n.5101+7G>T)
c.5089+7G>T (n.5089+7G>T)
c.5062+7G>T (n.5062+7G>T)
n.5646+7G>T
n.5648+7G>T
c.5416+7G>T (n.5416+7G>T)
c.5410+7G>T (n.5410+7G>T)
c.5407+7G>T (n.5407+7G>T)
c.5302+7G>T (n.5302+7G>T)
c.5299+7G>T (n.5299+7G>T)
n.5431+7G>T
 gnomAD v4
11g.77203226G>ACA600349458MYO7Ac.5326+9G>A (n.5326+9G>A)
c.3167+9G>A
c.5179+9G>A (n.5179+9G>A)
c.2752+9G>A (n.2752+9G>A)
c.5212+9G>A (n.5212+9G>A)
n.2862+9G>A
n.32+9G>A
c.5209+9G>A (n.5209+9G>A)
c.5317+9G>A (n.5317+9G>A)
c.5320+9G>A (n.5320+9G>A)
c.5293+9G>A (n.5293+9G>A)
c.5230+9G>A (n.5230+9G>A)
c.5101+9G>A (n.5101+9G>A)
c.5089+9G>A (n.5089+9G>A)
c.5062+9G>A (n.5062+9G>A)
n.5646+9G>A
n.5648+9G>A
c.5416+9G>A (n.5416+9G>A)
c.5410+9G>A (n.5410+9G>A)
c.5407+9G>A (n.5407+9G>A)
c.5302+9G>A (n.5302+9G>A)
c.5299+9G>A (n.5299+9G>A)
n.5431+9G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77203226G=CA1984125738MYO7Ac.5326+9G= (n.5326+9G=)
c.3167+9G=
c.5179+9G= (n.5179+9G=)
c.2752+9G= (n.2752+9G=)
c.5212+9G= (n.5212+9G=)
n.2862+9G=
n.32+9G=
c.5209+9G= (n.5209+9G=)
c.5317+9G= (n.5317+9G=)
c.5320+9G= (n.5320+9G=)
c.5293+9G= (n.5293+9G=)
c.5230+9G= (n.5230+9G=)
c.5101+9G= (n.5101+9G=)
c.5089+9G= (n.5089+9G=)
c.5062+9G= (n.5062+9G=)
n.5646+9G=
n.5648+9G=
c.5416+9G= (n.5416+9G=)
c.5410+9G= (n.5410+9G=)
c.5407+9G= (n.5407+9G=)
c.5302+9G= (n.5302+9G=)
c.5299+9G= (n.5299+9G=)
n.5431+9G=
11g.77203226G>TCA2615262441MYO7Ac.5326+9G>T (n.5326+9G>T)
c.3167+9G>T
c.5179+9G>T (n.5179+9G>T)
c.2752+9G>T (n.2752+9G>T)
c.5212+9G>T (n.5212+9G>T)
n.2862+9G>T
n.32+9G>T
c.5209+9G>T (n.5209+9G>T)
c.5317+9G>T (n.5317+9G>T)
c.5320+9G>T (n.5320+9G>T)
c.5293+9G>T (n.5293+9G>T)
c.5230+9G>T (n.5230+9G>T)
c.5101+9G>T (n.5101+9G>T)
c.5089+9G>T (n.5089+9G>T)
c.5062+9G>T (n.5062+9G>T)
n.5646+9G>T
n.5648+9G>T
c.5416+9G>T (n.5416+9G>T)
c.5410+9G>T (n.5410+9G>T)
c.5407+9G>T (n.5407+9G>T)
c.5302+9G>T (n.5302+9G>T)
c.5299+9G>T (n.5299+9G>T)
n.5431+9G>T
 gnomAD v4
11g.77203227C>ACA2615262442MYO7Ac.5326+10C>A (n.5326+10C>A)
c.3167+10C>A
c.5179+10C>A (n.5179+10C>A)
c.2752+10C>A (n.2752+10C>A)
c.5212+10C>A (n.5212+10C>A)
n.2862+10C>A
n.32+10C>A
c.5209+10C>A (n.5209+10C>A)
c.5317+10C>A (n.5317+10C>A)
c.5320+10C>A (n.5320+10C>A)
c.5293+10C>A (n.5293+10C>A)
c.5230+10C>A (n.5230+10C>A)
c.5101+10C>A (n.5101+10C>A)
c.5089+10C>A (n.5089+10C>A)
c.5062+10C>A (n.5062+10C>A)
n.5646+10C>A
n.5648+10C>A
c.5416+10C>A (n.5416+10C>A)
c.5410+10C>A (n.5410+10C>A)
c.5407+10C>A (n.5407+10C>A)
c.5302+10C>A (n.5302+10C>A)
c.5299+10C>A (n.5299+10C>A)
n.5431+10C>A
 ClinVar gnomAD v4
11g.77203227C>TCA2615262443MYO7Ac.5326+10C>T (n.5326+10C>T)
c.3167+10C>T
c.5179+10C>T (n.5179+10C>T)
c.2752+10C>T (n.2752+10C>T)
c.5212+10C>T (n.5212+10C>T)
n.2862+10C>T
n.32+10C>T
c.5209+10C>T (n.5209+10C>T)
c.5317+10C>T (n.5317+10C>T)
c.5320+10C>T (n.5320+10C>T)
c.5293+10C>T (n.5293+10C>T)
c.5230+10C>T (n.5230+10C>T)
c.5101+10C>T (n.5101+10C>T)
c.5089+10C>T (n.5089+10C>T)
c.5062+10C>T (n.5062+10C>T)
n.5646+10C>T
n.5648+10C>T
c.5416+10C>T (n.5416+10C>T)
c.5410+10C>T (n.5410+10C>T)
c.5407+10C>T (n.5407+10C>T)
c.5302+10C>T (n.5302+10C>T)
c.5299+10C>T (n.5299+10C>T)
n.5431+10C>T
 ClinVar gnomAD v4
11g.77203228C>ACA2615262444MYO7Ac.5326+11C>A (n.5326+11C>A)
c.3167+11C>A
c.5179+11C>A (n.5179+11C>A)
c.2752+11C>A (n.2752+11C>A)
c.5212+11C>A (n.5212+11C>A)
n.2862+11C>A
n.32+11C>A
c.5209+11C>A (n.5209+11C>A)
c.5317+11C>A (n.5317+11C>A)
c.5320+11C>A (n.5320+11C>A)
c.5293+11C>A (n.5293+11C>A)
c.5230+11C>A (n.5230+11C>A)
c.5101+11C>A (n.5101+11C>A)
c.5089+11C>A (n.5089+11C>A)
c.5062+11C>A (n.5062+11C>A)
n.5646+11C>A
n.5648+11C>A
c.5416+11C>A (n.5416+11C>A)
c.5410+11C>A (n.5410+11C>A)
c.5407+11C>A (n.5407+11C>A)
c.5302+11C>A (n.5302+11C>A)
c.5299+11C>A (n.5299+11C>A)
n.5431+11C>A
 gnomAD v4
11g.77203228C=CA1984125739MYO7Ac.5326+11C= (n.5326+11C=)
c.3167+11C=
c.5179+11C= (n.5179+11C=)
c.2752+11C= (n.2752+11C=)
c.5212+11C= (n.5212+11C=)
n.2862+11C=
n.32+11C=
c.5209+11C= (n.5209+11C=)
c.5317+11C= (n.5317+11C=)
c.5320+11C= (n.5320+11C=)
c.5293+11C= (n.5293+11C=)
c.5230+11C= (n.5230+11C=)
c.5101+11C= (n.5101+11C=)
c.5089+11C= (n.5089+11C=)
c.5062+11C= (n.5062+11C=)
n.5646+11C=
n.5648+11C=
c.5416+11C= (n.5416+11C=)
c.5410+11C= (n.5410+11C=)
c.5407+11C= (n.5407+11C=)
c.5302+11C= (n.5302+11C=)
c.5299+11C= (n.5299+11C=)
n.5431+11C=
11g.77203228C>TCA1984125740MYO7Ac.5326+11C>T (n.5326+11C>T)
c.3167+11C>T
c.5179+11C>T (n.5179+11C>T)
c.2752+11C>T (n.2752+11C>T)
c.5212+11C>T (n.5212+11C>T)
n.2862+11C>T
n.32+11C>T
c.5209+11C>T (n.5209+11C>T)
c.5317+11C>T (n.5317+11C>T)
c.5320+11C>T (n.5320+11C>T)
c.5293+11C>T (n.5293+11C>T)
c.5230+11C>T (n.5230+11C>T)
c.5101+11C>T (n.5101+11C>T)
c.5089+11C>T (n.5089+11C>T)
c.5062+11C>T (n.5062+11C>T)
n.5646+11C>T
n.5648+11C>T
c.5416+11C>T (n.5416+11C>T)
c.5410+11C>T (n.5410+11C>T)
c.5407+11C>T (n.5407+11C>T)
c.5302+11C>T (n.5302+11C>T)
c.5299+11C>T (n.5299+11C>T)
n.5431+11C>T
 dbSNP gnomAD v4
11g.77203229delCA2615262445MYO7Ac.5326+12del (n.5326+12del)
c.3167+12del
c.5179+12del (n.5179+12del)
c.2752+12del (n.2752+12del)
c.5212+12del (n.5212+12del)
n.2862+12del
n.32+12del
c.5209+12del (n.5209+12del)
c.5317+12del (n.5317+12del)
c.5320+12del (n.5320+12del)
c.5293+12del (n.5293+12del)
c.5230+12del (n.5230+12del)
c.5101+12del (n.5101+12del)
c.5089+12del (n.5089+12del)
c.5062+12del (n.5062+12del)
n.5646+12del
n.5648+12del
c.5416+12del (n.5416+12del)
c.5410+12del (n.5410+12del)
c.5407+12del (n.5407+12del)
c.5302+12del (n.5302+12del)
c.5299+12del (n.5299+12del)
n.5431+12del
 gnomAD v4
11g.77203229A>CCA2574931603MYO7Ac.5326+12A>C (n.5326+12A>C)
c.3167+12A>C
c.5179+12A>C (n.5179+12A>C)
c.2752+12A>C (n.2752+12A>C)
c.5212+12A>C (n.5212+12A>C)
n.2862+12A>C
n.32+12A>C
c.5209+12A>C (n.5209+12A>C)
c.5317+12A>C (n.5317+12A>C)
c.5320+12A>C (n.5320+12A>C)
c.5293+12A>C (n.5293+12A>C)
c.5230+12A>C (n.5230+12A>C)
c.5101+12A>C (n.5101+12A>C)
c.5089+12A>C (n.5089+12A>C)
c.5062+12A>C (n.5062+12A>C)
n.5646+12A>C
n.5648+12A>C
c.5416+12A>C (n.5416+12A>C)
c.5410+12A>C (n.5410+12A>C)
c.5407+12A>C (n.5407+12A>C)
c.5302+12A>C (n.5302+12A>C)
c.5299+12A>C (n.5299+12A>C)
n.5431+12A>C
11g.77203229A>GCA2615262446MYO7Ac.5326+12A>G (n.5326+12A>G)
c.3167+12A>G
c.5179+12A>G (n.5179+12A>G)
c.2752+12A>G (n.2752+12A>G)
c.5212+12A>G (n.5212+12A>G)
n.2862+12A>G
n.32+12A>G
c.5209+12A>G (n.5209+12A>G)
c.5317+12A>G (n.5317+12A>G)
c.5320+12A>G (n.5320+12A>G)
c.5293+12A>G (n.5293+12A>G)
c.5230+12A>G (n.5230+12A>G)
c.5101+12A>G (n.5101+12A>G)
c.5089+12A>G (n.5089+12A>G)
c.5062+12A>G (n.5062+12A>G)
n.5646+12A>G
n.5648+12A>G
c.5416+12A>G (n.5416+12A>G)
c.5410+12A>G (n.5410+12A>G)
c.5407+12A>G (n.5407+12A>G)
c.5302+12A>G (n.5302+12A>G)
c.5299+12A>G (n.5299+12A>G)
n.5431+12A>G
 gnomAD v4
11g.77203230C>ACA2581032905MYO7Ac.5326+13C>A (n.5326+13C>A)
c.3167+13C>A
c.5179+13C>A (n.5179+13C>A)
c.2752+13C>A (n.2752+13C>A)
c.5212+13C>A (n.5212+13C>A)
n.2862+13C>A
n.32+13C>A
c.5209+13C>A (n.5209+13C>A)
c.5317+13C>A (n.5317+13C>A)
c.5320+13C>A (n.5320+13C>A)
c.5293+13C>A (n.5293+13C>A)
c.5230+13C>A (n.5230+13C>A)
c.5101+13C>A (n.5101+13C>A)
c.5089+13C>A (n.5089+13C>A)
c.5062+13C>A (n.5062+13C>A)
n.5646+13C>A
n.5648+13C>A
c.5416+13C>A (n.5416+13C>A)
c.5410+13C>A (n.5410+13C>A)
c.5407+13C>A (n.5407+13C>A)
c.5302+13C>A (n.5302+13C>A)
c.5299+13C>A (n.5299+13C>A)
n.5431+13C>A
11g.77203230C=CA1984125741MYO7Ac.5326+13C= (n.5326+13C=)
c.3167+13C=
c.5179+13C= (n.5179+13C=)
c.2752+13C= (n.2752+13C=)
c.5212+13C= (n.5212+13C=)
n.2862+13C=
n.32+13C=
c.5209+13C= (n.5209+13C=)
c.5317+13C= (n.5317+13C=)
c.5320+13C= (n.5320+13C=)
c.5293+13C= (n.5293+13C=)
c.5230+13C= (n.5230+13C=)
c.5101+13C= (n.5101+13C=)
c.5089+13C= (n.5089+13C=)
c.5062+13C= (n.5062+13C=)
n.5646+13C=
n.5648+13C=
c.5416+13C= (n.5416+13C=)
c.5410+13C= (n.5410+13C=)
c.5407+13C= (n.5407+13C=)
c.5302+13C= (n.5302+13C=)
c.5299+13C= (n.5299+13C=)
n.5431+13C=
11g.77203230C>GCA2581032906MYO7Ac.5326+13C>G (n.5326+13C>G)
c.3167+13C>G
c.5179+13C>G (n.5179+13C>G)
c.2752+13C>G (n.2752+13C>G)
c.5212+13C>G (n.5212+13C>G)
n.2862+13C>G
n.32+13C>G
c.5209+13C>G (n.5209+13C>G)
c.5317+13C>G (n.5317+13C>G)
c.5320+13C>G (n.5320+13C>G)
c.5293+13C>G (n.5293+13C>G)
c.5230+13C>G (n.5230+13C>G)
c.5101+13C>G (n.5101+13C>G)
c.5089+13C>G (n.5089+13C>G)
c.5062+13C>G (n.5062+13C>G)
n.5646+13C>G
n.5648+13C>G
c.5416+13C>G (n.5416+13C>G)
c.5410+13C>G (n.5410+13C>G)
c.5407+13C>G (n.5407+13C>G)
c.5302+13C>G (n.5302+13C>G)
c.5299+13C>G (n.5299+13C>G)
n.5431+13C>G
11g.77203230C>TCA132382MYO7Ac.5326+13C>T (n.5326+13C>T)
c.3167+13C>T
c.5179+13C>T (n.5179+13C>T)
c.2752+13C>T (n.2752+13C>T)
c.5212+13C>T (n.5212+13C>T)
n.2862+13C>T
n.32+13C>T
c.5209+13C>T (n.5209+13C>T)
c.5317+13C>T (n.5317+13C>T)
c.5320+13C>T (n.5320+13C>T)
c.5293+13C>T (n.5293+13C>T)
c.5230+13C>T (n.5230+13C>T)
c.5101+13C>T (n.5101+13C>T)
c.5089+13C>T (n.5089+13C>T)
c.5062+13C>T (n.5062+13C>T)
n.5646+13C>T
n.5648+13C>T
c.5416+13C>T (n.5416+13C>T)
c.5410+13C>T (n.5410+13C>T)
c.5407+13C>T (n.5407+13C>T)
c.5302+13C>T (n.5302+13C>T)
c.5299+13C>T (n.5299+13C>T)
n.5431+13C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77203231T>CCA2615262447MYO7Ac.5326+14T>C (n.5326+14T>C)
c.3167+14T>C
c.5179+14T>C (n.5179+14T>C)
c.2752+14T>C (n.2752+14T>C)
c.5212+14T>C (n.5212+14T>C)
n.2862+14T>C
n.32+14T>C
c.5209+14T>C (n.5209+14T>C)
c.5317+14T>C (n.5317+14T>C)
c.5320+14T>C (n.5320+14T>C)
c.5293+14T>C (n.5293+14T>C)
c.5230+14T>C (n.5230+14T>C)
c.5101+14T>C (n.5101+14T>C)
c.5089+14T>C (n.5089+14T>C)
c.5062+14T>C (n.5062+14T>C)
n.5646+14T>C
n.5648+14T>C
c.5416+14T>C (n.5416+14T>C)
c.5410+14T>C (n.5410+14T>C)
c.5407+14T>C (n.5407+14T>C)
c.5302+14T>C (n.5302+14T>C)
c.5299+14T>C (n.5299+14T>C)
n.5431+14T>C
 dbSNP gnomAD v4
11g.77203231T>GCA600349461MYO7Ac.5326+14T>G (n.5326+14T>G)
c.3167+14T>G
c.5179+14T>G (n.5179+14T>G)
c.2752+14T>G (n.2752+14T>G)
c.5212+14T>G (n.5212+14T>G)
n.2862+14T>G
n.32+14T>G
c.5209+14T>G (n.5209+14T>G)
c.5317+14T>G (n.5317+14T>G)
c.5320+14T>G (n.5320+14T>G)
c.5293+14T>G (n.5293+14T>G)
c.5230+14T>G (n.5230+14T>G)
c.5101+14T>G (n.5101+14T>G)
c.5089+14T>G (n.5089+14T>G)
c.5062+14T>G (n.5062+14T>G)
n.5646+14T>G
n.5648+14T>G
c.5416+14T>G (n.5416+14T>G)
c.5410+14T>G (n.5410+14T>G)
c.5407+14T>G (n.5407+14T>G)
c.5302+14T>G (n.5302+14T>G)
c.5299+14T>G (n.5299+14T>G)
n.5431+14T>G
 gnomAD v2
11g.77203231_77203232delinsTGCA1984125742MYO7Ac.5326+14_5326+15delinsTG (n.5326+14_5326+15delinsTG)
c.3167+14_3167+15delinsTG
c.5179+14_5179+15delinsTG (n.5179+14_5179+15delinsTG)
c.2752+14_2752+15delinsTG (n.2752+14_2752+15delinsTG)
c.5212+14_5212+15delinsTG (n.5212+14_5212+15delinsTG)
n.2862+14_2862+15delinsTG
n.32+14_32+15delinsTG
c.5209+14_5209+15delinsTG (n.5209+14_5209+15delinsTG)
c.5317+14_5317+15delinsTG (n.5317+14_5317+15delinsTG)
c.5320+14_5320+15delinsTG (n.5320+14_5320+15delinsTG)
c.5293+14_5293+15delinsTG (n.5293+14_5293+15delinsTG)
c.5230+14_5230+15delinsTG (n.5230+14_5230+15delinsTG)
c.5101+14_5101+15delinsTG (n.5101+14_5101+15delinsTG)
c.5089+14_5089+15delinsTG (n.5089+14_5089+15delinsTG)
c.5062+14_5062+15delinsTG (n.5062+14_5062+15delinsTG)
n.5646+14_5646+15delinsTG
n.5648+14_5648+15delinsTG
c.5416+14_5416+15delinsTG (n.5416+14_5416+15delinsTG)
c.5410+14_5410+15delinsTG (n.5410+14_5410+15delinsTG)
c.5407+14_5407+15delinsTG (n.5407+14_5407+15delinsTG)
c.5302+14_5302+15delinsTG (n.5302+14_5302+15delinsTG)
c.5299+14_5299+15delinsTG (n.5299+14_5299+15delinsTG)
n.5431+14_5431+15delinsTG
11g.77203232G>ACA2615262452MYO7Ac.5326+15G>A (n.5326+15G>A)
c.3167+15G>A
c.5179+15G>A (n.5179+15G>A)
c.2752+15G>A (n.2752+15G>A)
c.5212+15G>A (n.5212+15G>A)
n.2862+15G>A
n.32+15G>A
c.5209+15G>A (n.5209+15G>A)
c.5317+15G>A (n.5317+15G>A)
c.5320+15G>A (n.5320+15G>A)
c.5293+15G>A (n.5293+15G>A)
c.5230+15G>A (n.5230+15G>A)
c.5101+15G>A (n.5101+15G>A)
c.5089+15G>A (n.5089+15G>A)
c.5062+15G>A (n.5062+15G>A)
n.5646+15G>A
n.5648+15G>A
c.5416+15G>A (n.5416+15G>A)
c.5410+15G>A (n.5410+15G>A)
c.5407+15G>A (n.5407+15G>A)
c.5302+15G>A (n.5302+15G>A)
c.5299+15G>A (n.5299+15G>A)
n.5431+15G>A
 gnomAD v4
11g.77203232G>TCA2615262451MYO7Ac.5326+15G>T (n.5326+15G>T)
c.3167+15G>T
c.5179+15G>T (n.5179+15G>T)
c.2752+15G>T (n.2752+15G>T)
c.5212+15G>T (n.5212+15G>T)
n.2862+15G>T
n.32+15G>T
c.5209+15G>T (n.5209+15G>T)
c.5317+15G>T (n.5317+15G>T)
c.5320+15G>T (n.5320+15G>T)
c.5293+15G>T (n.5293+15G>T)
c.5230+15G>T (n.5230+15G>T)
c.5101+15G>T (n.5101+15G>T)
c.5089+15G>T (n.5089+15G>T)
c.5062+15G>T (n.5062+15G>T)
n.5646+15G>T
n.5648+15G>T
c.5416+15G>T (n.5416+15G>T)
c.5410+15G>T (n.5410+15G>T)
c.5407+15G>T (n.5407+15G>T)
c.5302+15G>T (n.5302+15G>T)
c.5299+15G>T (n.5299+15G>T)
n.5431+15G>T
 gnomAD v4
11g.77203234delCA600349462MYO7Ac.5326+17del (n.5326+17del)
c.3167+17del
c.5179+17del (n.5179+17del)
c.2752+17del (n.2752+17del)
c.5212+17del (n.5212+17del)
n.2862+17del
n.32+17del
c.5209+17del (n.5209+17del)
c.5317+17del (n.5317+17del)
c.5320+17del (n.5320+17del)
c.5293+17del (n.5293+17del)
c.5230+17del (n.5230+17del)
c.5101+17del (n.5101+17del)
c.5089+17del (n.5089+17del)
c.5062+17del (n.5062+17del)
n.5646+17del
n.5648+17del
c.5416+17del (n.5416+17del)
c.5410+17del (n.5410+17del)
c.5407+17del (n.5407+17del)
c.5302+17del (n.5302+17del)
c.5299+17del (n.5299+17del)
n.5431+17del
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77203233G>ACA2615262455MYO7Ac.5326+16G>A (n.5326+16G>A)
c.3167+16G>A
c.5179+16G>A (n.5179+16G>A)
c.2752+16G>A (n.2752+16G>A)
c.5212+16G>A (n.5212+16G>A)
n.2862+16G>A
n.32+16G>A
c.5209+16G>A (n.5209+16G>A)
c.5317+16G>A (n.5317+16G>A)
c.5320+16G>A (n.5320+16G>A)
c.5293+16G>A (n.5293+16G>A)
c.5230+16G>A (n.5230+16G>A)
c.5101+16G>A (n.5101+16G>A)
c.5089+16G>A (n.5089+16G>A)
c.5062+16G>A (n.5062+16G>A)
n.5646+16G>A
n.5648+16G>A
c.5416+16G>A (n.5416+16G>A)
c.5410+16G>A (n.5410+16G>A)
c.5407+16G>A (n.5407+16G>A)
c.5302+16G>A (n.5302+16G>A)
c.5299+16G>A (n.5299+16G>A)
n.5431+16G>A
 ClinVar gnomAD v4
11g.77203233G>TCA2615262456MYO7Ac.5326+16G>T (n.5326+16G>T)
c.3167+16G>T
c.5179+16G>T (n.5179+16G>T)
c.2752+16G>T (n.2752+16G>T)
c.5212+16G>T (n.5212+16G>T)
n.2862+16G>T
n.32+16G>T
c.5209+16G>T (n.5209+16G>T)
c.5317+16G>T (n.5317+16G>T)
c.5320+16G>T (n.5320+16G>T)
c.5293+16G>T (n.5293+16G>T)
c.5230+16G>T (n.5230+16G>T)
c.5101+16G>T (n.5101+16G>T)
c.5089+16G>T (n.5089+16G>T)
c.5062+16G>T (n.5062+16G>T)
n.5646+16G>T
n.5648+16G>T
c.5416+16G>T (n.5416+16G>T)
c.5410+16G>T (n.5410+16G>T)
c.5407+16G>T (n.5407+16G>T)
c.5302+16G>T (n.5302+16G>T)
c.5299+16G>T (n.5299+16G>T)
n.5431+16G>T
 gnomAD v4
11g.77203234G>ACA2615262457MYO7Ac.5326+17G>A (n.5326+17G>A)
c.3167+17G>A
c.5179+17G>A (n.5179+17G>A)
c.2752+17G>A (n.2752+17G>A)
c.5212+17G>A (n.5212+17G>A)
n.2862+17G>A
n.32+17G>A
c.5209+17G>A (n.5209+17G>A)
c.5317+17G>A (n.5317+17G>A)
c.5320+17G>A (n.5320+17G>A)
c.5293+17G>A (n.5293+17G>A)
c.5230+17G>A (n.5230+17G>A)
c.5101+17G>A (n.5101+17G>A)
c.5089+17G>A (n.5089+17G>A)
c.5062+17G>A (n.5062+17G>A)
n.5646+17G>A
n.5648+17G>A
c.5416+17G>A (n.5416+17G>A)
c.5410+17G>A (n.5410+17G>A)
c.5407+17G>A (n.5407+17G>A)
c.5302+17G>A (n.5302+17G>A)
c.5299+17G>A (n.5299+17G>A)
n.5431+17G>A
 gnomAD v4
11g.77203234G>TCA2615262460MYO7Ac.5326+17G>T (n.5326+17G>T)
c.3167+17G>T
c.5179+17G>T (n.5179+17G>T)
c.2752+17G>T (n.2752+17G>T)
c.5212+17G>T (n.5212+17G>T)
n.2862+17G>T
n.32+17G>T
c.5209+17G>T (n.5209+17G>T)
c.5317+17G>T (n.5317+17G>T)
c.5320+17G>T (n.5320+17G>T)
c.5293+17G>T (n.5293+17G>T)
c.5230+17G>T (n.5230+17G>T)
c.5101+17G>T (n.5101+17G>T)
c.5089+17G>T (n.5089+17G>T)
c.5062+17G>T (n.5062+17G>T)
n.5646+17G>T
n.5648+17G>T
c.5416+17G>T (n.5416+17G>T)
c.5410+17G>T (n.5410+17G>T)
c.5407+17G>T (n.5407+17G>T)
c.5302+17G>T (n.5302+17G>T)
c.5299+17G>T (n.5299+17G>T)
n.5431+17G>T
 gnomAD v4
11g.77203235C>ACA2615262462MYO7Ac.5326+18C>A (n.5326+18C>A)
c.3167+18C>A
c.5179+18C>A (n.5179+18C>A)
c.2752+18C>A (n.2752+18C>A)
c.5212+18C>A (n.5212+18C>A)
n.2862+18C>A
n.32+18C>A
c.5209+18C>A (n.5209+18C>A)
c.5317+18C>A (n.5317+18C>A)
c.5320+18C>A (n.5320+18C>A)
c.5293+18C>A (n.5293+18C>A)
c.5230+18C>A (n.5230+18C>A)
c.5101+18C>A (n.5101+18C>A)
c.5089+18C>A (n.5089+18C>A)
c.5062+18C>A (n.5062+18C>A)
n.5646+18C>A
n.5648+18C>A
c.5416+18C>A (n.5416+18C>A)
c.5410+18C>A (n.5410+18C>A)
c.5407+18C>A (n.5407+18C>A)
c.5302+18C>A (n.5302+18C>A)
c.5299+18C>A (n.5299+18C>A)
n.5431+18C>A
 gnomAD v4
11g.77203235C>GCA2615262463MYO7Ac.5326+18C>G (n.5326+18C>G)
c.3167+18C>G
c.5179+18C>G (n.5179+18C>G)
c.2752+18C>G (n.2752+18C>G)
c.5212+18C>G (n.5212+18C>G)
n.2862+18C>G
n.32+18C>G
c.5209+18C>G (n.5209+18C>G)
c.5317+18C>G (n.5317+18C>G)
c.5320+18C>G (n.5320+18C>G)
c.5293+18C>G (n.5293+18C>G)
c.5230+18C>G (n.5230+18C>G)
c.5101+18C>G (n.5101+18C>G)
c.5089+18C>G (n.5089+18C>G)
c.5062+18C>G (n.5062+18C>G)
n.5646+18C>G
n.5648+18C>G
c.5416+18C>G (n.5416+18C>G)
c.5410+18C>G (n.5410+18C>G)
c.5407+18C>G (n.5407+18C>G)
c.5302+18C>G (n.5302+18C>G)
c.5299+18C>G (n.5299+18C>G)
n.5431+18C>G
 gnomAD v4
11g.77203235C>TCA2615262464MYO7Ac.5326+18C>T (n.5326+18C>T)
c.3167+18C>T
c.5179+18C>T (n.5179+18C>T)
c.2752+18C>T (n.2752+18C>T)
c.5212+18C>T (n.5212+18C>T)
n.2862+18C>T
n.32+18C>T
c.5209+18C>T (n.5209+18C>T)
c.5317+18C>T (n.5317+18C>T)
c.5320+18C>T (n.5320+18C>T)
c.5293+18C>T (n.5293+18C>T)
c.5230+18C>T (n.5230+18C>T)
c.5101+18C>T (n.5101+18C>T)
c.5089+18C>T (n.5089+18C>T)
c.5062+18C>T (n.5062+18C>T)
n.5646+18C>T
n.5648+18C>T
c.5416+18C>T (n.5416+18C>T)
c.5410+18C>T (n.5410+18C>T)
c.5407+18C>T (n.5407+18C>T)
c.5302+18C>T (n.5302+18C>T)
c.5299+18C>T (n.5299+18C>T)
n.5431+18C>T
 gnomAD v4
11g.77203236T>CCA2615262465MYO7Ac.5326+19T>C (n.5326+19T>C)
c.3167+19T>C
c.5179+19T>C (n.5179+19T>C)
c.2752+19T>C (n.2752+19T>C)
c.5212+19T>C (n.5212+19T>C)
n.2862+19T>C
n.32+19T>C
c.5209+19T>C (n.5209+19T>C)
c.5317+19T>C (n.5317+19T>C)
c.5320+19T>C (n.5320+19T>C)
c.5293+19T>C (n.5293+19T>C)
c.5230+19T>C (n.5230+19T>C)
c.5101+19T>C (n.5101+19T>C)
c.5089+19T>C (n.5089+19T>C)
c.5062+19T>C (n.5062+19T>C)
n.5646+19T>C
n.5648+19T>C
c.5416+19T>C (n.5416+19T>C)
c.5410+19T>C (n.5410+19T>C)
c.5407+19T>C (n.5407+19T>C)
c.5302+19T>C (n.5302+19T>C)
c.5299+19T>C (n.5299+19T>C)
n.5431+19T>C
 gnomAD v4
11g.77203237G>ACA680420944MYO7Ac.5326+20G>A (n.5326+20G>A)
c.3167+20G>A
c.5179+20G>A (n.5179+20G>A)
c.2752+20G>A (n.2752+20G>A)
c.5212+20G>A (n.5212+20G>A)
n.2862+20G>A
n.32+20G>A
c.5209+20G>A (n.5209+20G>A)
c.5317+20G>A (n.5317+20G>A)
c.5320+20G>A (n.5320+20G>A)
c.5293+20G>A (n.5293+20G>A)
c.5230+20G>A (n.5230+20G>A)
c.5101+20G>A (n.5101+20G>A)
c.5089+20G>A (n.5089+20G>A)
c.5062+20G>A (n.5062+20G>A)
n.5646+20G>A
n.5648+20G>A
c.5416+20G>A (n.5416+20G>A)
c.5410+20G>A (n.5410+20G>A)
c.5407+20G>A (n.5407+20G>A)
c.5302+20G>A (n.5302+20G>A)
c.5299+20G>A (n.5299+20G>A)
n.5431+20G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77203237G>CCA6198672MYO7Ac.5326+20G>C (n.5326+20G>C)
c.3167+20G>C
c.5179+20G>C (n.5179+20G>C)
c.2752+20G>C (n.2752+20G>C)
c.5212+20G>C (n.5212+20G>C)
n.2862+20G>C
n.32+20G>C
c.5209+20G>C (n.5209+20G>C)
c.5317+20G>C (n.5317+20G>C)
c.5320+20G>C (n.5320+20G>C)
c.5293+20G>C (n.5293+20G>C)
c.5230+20G>C (n.5230+20G>C)
c.5101+20G>C (n.5101+20G>C)
c.5089+20G>C (n.5089+20G>C)
c.5062+20G>C (n.5062+20G>C)
n.5646+20G>C
n.5648+20G>C
c.5416+20G>C (n.5416+20G>C)
c.5410+20G>C (n.5410+20G>C)
c.5407+20G>C (n.5407+20G>C)
c.5302+20G>C (n.5302+20G>C)
c.5299+20G>C (n.5299+20G>C)
n.5431+20G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77203237G=CA1984125743MYO7Ac.5326+20G= (n.5326+20G=)
c.3167+20G=
c.5179+20G= (n.5179+20G=)
c.2752+20G= (n.2752+20G=)
c.5212+20G= (n.5212+20G=)
n.2862+20G=
n.32+20G=
c.5209+20G= (n.5209+20G=)
c.5317+20G= (n.5317+20G=)
c.5320+20G= (n.5320+20G=)
c.5293+20G= (n.5293+20G=)
c.5230+20G= (n.5230+20G=)
c.5101+20G= (n.5101+20G=)
c.5089+20G= (n.5089+20G=)
c.5062+20G= (n.5062+20G=)
n.5646+20G=
n.5648+20G=
c.5416+20G= (n.5416+20G=)
c.5410+20G= (n.5410+20G=)
c.5407+20G= (n.5407+20G=)
c.5302+20G= (n.5302+20G=)
c.5299+20G= (n.5299+20G=)
n.5431+20G=
11g.77203237G>TCA224852742MYO7Ac.5326+20G>T (n.5326+20G>T)
c.3167+20G>T
c.5179+20G>T (n.5179+20G>T)
c.2752+20G>T (n.2752+20G>T)
c.5212+20G>T (n.5212+20G>T)
n.2862+20G>T
n.32+20G>T
c.5209+20G>T (n.5209+20G>T)
c.5317+20G>T (n.5317+20G>T)
c.5320+20G>T (n.5320+20G>T)
c.5293+20G>T (n.5293+20G>T)
c.5230+20G>T (n.5230+20G>T)
c.5101+20G>T (n.5101+20G>T)
c.5089+20G>T (n.5089+20G>T)
c.5062+20G>T (n.5062+20G>T)
n.5646+20G>T
n.5648+20G>T
c.5416+20G>T (n.5416+20G>T)
c.5410+20G>T (n.5410+20G>T)
c.5407+20G>T (n.5407+20G>T)
c.5302+20G>T (n.5302+20G>T)
c.5299+20G>T (n.5299+20G>T)
n.5431+20G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77203238T>CCA2574931604MYO7Ac.5326+21T>C (n.5326+21T>C)
c.3167+21T>C
c.5179+21T>C (n.5179+21T>C)
c.2752+21T>C (n.2752+21T>C)
c.5212+21T>C (n.5212+21T>C)
n.2862+21T>C
n.32+21T>C
c.5209+21T>C (n.5209+21T>C)
c.5317+21T>C (n.5317+21T>C)
c.5320+21T>C (n.5320+21T>C)
c.5293+21T>C (n.5293+21T>C)
c.5230+21T>C (n.5230+21T>C)
c.5101+21T>C (n.5101+21T>C)
c.5089+21T>C (n.5089+21T>C)
c.5062+21T>C (n.5062+21T>C)
n.5646+21T>C
n.5648+21T>C
c.5416+21T>C (n.5416+21T>C)
c.5410+21T>C (n.5410+21T>C)
c.5407+21T>C (n.5407+21T>C)
c.5302+21T>C (n.5302+21T>C)
c.5299+21T>C (n.5299+21T>C)
n.5431+21T>C
 gnomAD v4
11g.77203238T>GCA1984125745MYO7Ac.5326+21T>G (n.5326+21T>G)
c.3167+21T>G
c.5179+21T>G (n.5179+21T>G)
c.2752+21T>G (n.2752+21T>G)
c.5212+21T>G (n.5212+21T>G)
n.2862+21T>G
n.32+21T>G
c.5209+21T>G (n.5209+21T>G)
c.5317+21T>G (n.5317+21T>G)
c.5320+21T>G (n.5320+21T>G)
c.5293+21T>G (n.5293+21T>G)
c.5230+21T>G (n.5230+21T>G)
c.5101+21T>G (n.5101+21T>G)
c.5089+21T>G (n.5089+21T>G)
c.5062+21T>G (n.5062+21T>G)
n.5646+21T>G
n.5648+21T>G
c.5416+21T>G (n.5416+21T>G)
c.5410+21T>G (n.5410+21T>G)
c.5407+21T>G (n.5407+21T>G)
c.5302+21T>G (n.5302+21T>G)
c.5299+21T>G (n.5299+21T>G)
n.5431+21T>G
 dbSNP gnomAD v3 gnomAD v4
11g.77203238T=CA1984125744MYO7Ac.5326+21T= (n.5326+21T=)
c.3167+21T=
c.5179+21T= (n.5179+21T=)
c.2752+21T= (n.2752+21T=)
c.5212+21T= (n.5212+21T=)
n.2862+21T=
n.32+21T=
c.5209+21T= (n.5209+21T=)
c.5317+21T= (n.5317+21T=)
c.5320+21T= (n.5320+21T=)
c.5293+21T= (n.5293+21T=)
c.5230+21T= (n.5230+21T=)
c.5101+21T= (n.5101+21T=)
c.5089+21T= (n.5089+21T=)
c.5062+21T= (n.5062+21T=)
n.5646+21T=
n.5648+21T=
c.5416+21T= (n.5416+21T=)
c.5410+21T= (n.5410+21T=)
c.5407+21T= (n.5407+21T=)
c.5302+21T= (n.5302+21T=)
c.5299+21T= (n.5299+21T=)
n.5431+21T=
11g.77203239G>ACA6198673MYO7Ac.5326+22G>A (n.5326+22G>A)
c.3167+22G>A
c.5179+22G>A (n.5179+22G>A)
c.2752+22G>A (n.2752+22G>A)
c.5212+22G>A (n.5212+22G>A)
n.2862+22G>A
n.32+22G>A
c.5209+22G>A (n.5209+22G>A)
c.5317+22G>A (n.5317+22G>A)
c.5320+22G>A (n.5320+22G>A)
c.5293+22G>A (n.5293+22G>A)
c.5230+22G>A (n.5230+22G>A)
c.5101+22G>A (n.5101+22G>A)
c.5089+22G>A (n.5089+22G>A)
c.5062+22G>A (n.5062+22G>A)
n.5646+22G>A
n.5648+22G>A
c.5416+22G>A (n.5416+22G>A)
c.5410+22G>A (n.5410+22G>A)
c.5407+22G>A (n.5407+22G>A)
c.5302+22G>A (n.5302+22G>A)
c.5299+22G>A (n.5299+22G>A)
n.5431+22G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77203239G>CCA2615262471MYO7Ac.5326+22G>C (n.5326+22G>C)
c.3167+22G>C
c.5179+22G>C (n.5179+22G>C)
c.2752+22G>C (n.2752+22G>C)
c.5212+22G>C (n.5212+22G>C)
n.2862+22G>C
n.32+22G>C
c.5209+22G>C (n.5209+22G>C)
c.5317+22G>C (n.5317+22G>C)
c.5320+22G>C (n.5320+22G>C)
c.5293+22G>C (n.5293+22G>C)
c.5230+22G>C (n.5230+22G>C)
c.5101+22G>C (n.5101+22G>C)
c.5089+22G>C (n.5089+22G>C)
c.5062+22G>C (n.5062+22G>C)
n.5646+22G>C
n.5648+22G>C
c.5416+22G>C (n.5416+22G>C)
c.5410+22G>C (n.5410+22G>C)
c.5407+22G>C (n.5407+22G>C)
c.5302+22G>C (n.5302+22G>C)
c.5299+22G>C (n.5299+22G>C)
n.5431+22G>C
 gnomAD v4
11g.77203239G=CA1984125746MYO7Ac.5326+22G= (n.5326+22G=)
c.3167+22G=
c.5179+22G= (n.5179+22G=)
c.2752+22G= (n.2752+22G=)
c.5212+22G= (n.5212+22G=)
n.2862+22G=
n.32+22G=
c.5209+22G= (n.5209+22G=)
c.5317+22G= (n.5317+22G=)
c.5320+22G= (n.5320+22G=)
c.5293+22G= (n.5293+22G=)
c.5230+22G= (n.5230+22G=)
c.5101+22G= (n.5101+22G=)
c.5089+22G= (n.5089+22G=)
c.5062+22G= (n.5062+22G=)
n.5646+22G=
n.5648+22G=
c.5416+22G= (n.5416+22G=)
c.5410+22G= (n.5410+22G=)
c.5407+22G= (n.5407+22G=)
c.5302+22G= (n.5302+22G=)
c.5299+22G= (n.5299+22G=)
n.5431+22G=
11g.77203239G>TCA2615262472MYO7Ac.5326+22G>T (n.5326+22G>T)
c.3167+22G>T
c.5179+22G>T (n.5179+22G>T)
c.2752+22G>T (n.2752+22G>T)
c.5212+22G>T (n.5212+22G>T)
n.2862+22G>T
n.32+22G>T
c.5209+22G>T (n.5209+22G>T)
c.5317+22G>T (n.5317+22G>T)
c.5320+22G>T (n.5320+22G>T)
c.5293+22G>T (n.5293+22G>T)
c.5230+22G>T (n.5230+22G>T)
c.5101+22G>T (n.5101+22G>T)
c.5089+22G>T (n.5089+22G>T)
c.5062+22G>T (n.5062+22G>T)
n.5646+22G>T
n.5648+22G>T
c.5416+22G>T (n.5416+22G>T)
c.5410+22G>T (n.5410+22G>T)
c.5407+22G>T (n.5407+22G>T)
c.5302+22G>T (n.5302+22G>T)
c.5299+22G>T (n.5299+22G>T)
n.5431+22G>T
 gnomAD v4
11g.77203240C>ACA2615262473MYO7Ac.5326+23C>A (n.5326+23C>A)
c.3167+23C>A
c.5179+23C>A (n.5179+23C>A)
c.2752+23C>A (n.2752+23C>A)
c.5212+23C>A (n.5212+23C>A)
n.2862+23C>A
n.32+23C>A
c.5209+23C>A (n.5209+23C>A)
c.5317+23C>A (n.5317+23C>A)
c.5320+23C>A (n.5320+23C>A)
c.5293+23C>A (n.5293+23C>A)
c.5230+23C>A (n.5230+23C>A)
c.5101+23C>A (n.5101+23C>A)
c.5089+23C>A (n.5089+23C>A)
c.5062+23C>A (n.5062+23C>A)
n.5646+23C>A
n.5648+23C>A
c.5416+23C>A (n.5416+23C>A)
c.5410+23C>A (n.5410+23C>A)
c.5407+23C>A (n.5407+23C>A)
c.5302+23C>A (n.5302+23C>A)
c.5299+23C>A (n.5299+23C>A)
n.5431+23C>A
 gnomAD v4
11g.77203240C=CA1984125747MYO7Ac.5326+23C= (n.5326+23C=)
c.3167+23C=
c.5179+23C= (n.5179+23C=)
c.2752+23C= (n.2752+23C=)
c.5212+23C= (n.5212+23C=)
n.2862+23C=
n.32+23C=
c.5209+23C= (n.5209+23C=)
c.5317+23C= (n.5317+23C=)
c.5320+23C= (n.5320+23C=)
c.5293+23C= (n.5293+23C=)
c.5230+23C= (n.5230+23C=)
c.5101+23C= (n.5101+23C=)
c.5089+23C= (n.5089+23C=)
c.5062+23C= (n.5062+23C=)
n.5646+23C=
n.5648+23C=
c.5416+23C= (n.5416+23C=)
c.5410+23C= (n.5410+23C=)
c.5407+23C= (n.5407+23C=)
c.5302+23C= (n.5302+23C=)
c.5299+23C= (n.5299+23C=)
n.5431+23C=
11g.77203240C>TCA1984125748MYO7Ac.5326+23C>T (n.5326+23C>T)
c.3167+23C>T
c.5179+23C>T (n.5179+23C>T)
c.2752+23C>T (n.2752+23C>T)
c.5212+23C>T (n.5212+23C>T)
n.2862+23C>T
n.32+23C>T
c.5209+23C>T (n.5209+23C>T)
c.5317+23C>T (n.5317+23C>T)
c.5320+23C>T (n.5320+23C>T)
c.5293+23C>T (n.5293+23C>T)
c.5230+23C>T (n.5230+23C>T)
c.5101+23C>T (n.5101+23C>T)
c.5089+23C>T (n.5089+23C>T)
c.5062+23C>T (n.5062+23C>T)
n.5646+23C>T
n.5648+23C>T
c.5416+23C>T (n.5416+23C>T)
c.5410+23C>T (n.5410+23C>T)
c.5407+23C>T (n.5407+23C>T)
c.5302+23C>T (n.5302+23C>T)
c.5299+23C>T (n.5299+23C>T)
n.5431+23C>T
 dbSNP gnomAD v4
11g.77203241C>ACA2615262476MYO7Ac.5326+24C>A (n.5326+24C>A)
c.3167+24C>A
c.5179+24C>A (n.5179+24C>A)
c.2752+24C>A (n.2752+24C>A)
c.5212+24C>A (n.5212+24C>A)
n.2862+24C>A
n.32+24C>A
c.5209+24C>A (n.5209+24C>A)
c.5317+24C>A (n.5317+24C>A)
c.5320+24C>A (n.5320+24C>A)
c.5293+24C>A (n.5293+24C>A)
c.5230+24C>A (n.5230+24C>A)
c.5101+24C>A (n.5101+24C>A)
c.5089+24C>A (n.5089+24C>A)
c.5062+24C>A (n.5062+24C>A)
n.5646+24C>A
n.5648+24C>A
c.5416+24C>A (n.5416+24C>A)
c.5410+24C>A (n.5410+24C>A)
c.5407+24C>A (n.5407+24C>A)
c.5302+24C>A (n.5302+24C>A)
c.5299+24C>A (n.5299+24C>A)
n.5431+24C>A
 gnomAD v4
11g.77203242C>ACA2615262477MYO7Ac.5326+25C>A (n.5326+25C>A)
c.3167+25C>A
c.5179+25C>A (n.5179+25C>A)
c.2752+25C>A (n.2752+25C>A)
c.5212+25C>A (n.5212+25C>A)
n.2862+25C>A
n.32+25C>A
c.5209+25C>A (n.5209+25C>A)
c.5317+25C>A (n.5317+25C>A)
c.5320+25C>A (n.5320+25C>A)
c.5293+25C>A (n.5293+25C>A)
c.5230+25C>A (n.5230+25C>A)
c.5101+25C>A (n.5101+25C>A)
c.5089+25C>A (n.5089+25C>A)
c.5062+25C>A (n.5062+25C>A)
n.5646+25C>A
n.5648+25C>A
c.5416+25C>A (n.5416+25C>A)
c.5410+25C>A (n.5410+25C>A)
c.5407+25C>A (n.5407+25C>A)
c.5302+25C>A (n.5302+25C>A)
c.5299+25C>A (n.5299+25C>A)
n.5431+25C>A
 gnomAD v4
11g.77203242C=CA1984125749MYO7Ac.5326+25C= (n.5326+25C=)
c.3167+25C=
c.5179+25C= (n.5179+25C=)
c.2752+25C= (n.2752+25C=)
c.5212+25C= (n.5212+25C=)
n.2862+25C=
n.32+25C=
c.5209+25C= (n.5209+25C=)
c.5317+25C= (n.5317+25C=)
c.5320+25C= (n.5320+25C=)
c.5293+25C= (n.5293+25C=)
c.5230+25C= (n.5230+25C=)
c.5101+25C= (n.5101+25C=)
c.5089+25C= (n.5089+25C=)
c.5062+25C= (n.5062+25C=)
n.5646+25C=
n.5648+25C=
c.5416+25C= (n.5416+25C=)
c.5410+25C= (n.5410+25C=)
c.5407+25C= (n.5407+25C=)
c.5302+25C= (n.5302+25C=)
c.5299+25C= (n.5299+25C=)
n.5431+25C=
11g.77203242C>GCA2615262478MYO7Ac.5326+25C>G (n.5326+25C>G)
c.3167+25C>G
c.5179+25C>G (n.5179+25C>G)
c.2752+25C>G (n.2752+25C>G)
c.5212+25C>G (n.5212+25C>G)
n.2862+25C>G
n.32+25C>G
c.5209+25C>G (n.5209+25C>G)
c.5317+25C>G (n.5317+25C>G)
c.5320+25C>G (n.5320+25C>G)
c.5293+25C>G (n.5293+25C>G)
c.5230+25C>G (n.5230+25C>G)
c.5101+25C>G (n.5101+25C>G)
c.5089+25C>G (n.5089+25C>G)
c.5062+25C>G (n.5062+25C>G)
n.5646+25C>G
n.5648+25C>G
c.5416+25C>G (n.5416+25C>G)
c.5410+25C>G (n.5410+25C>G)
c.5407+25C>G (n.5407+25C>G)
c.5302+25C>G (n.5302+25C>G)
c.5299+25C>G (n.5299+25C>G)
n.5431+25C>G
 gnomAD v4
11g.77203242C>TCA224852744MYO7Ac.5326+25C>T (n.5326+25C>T)
c.3167+25C>T
c.5179+25C>T (n.5179+25C>T)
c.2752+25C>T (n.2752+25C>T)
c.5212+25C>T (n.5212+25C>T)
n.2862+25C>T
n.32+25C>T
c.5209+25C>T (n.5209+25C>T)
c.5317+25C>T (n.5317+25C>T)
c.5320+25C>T (n.5320+25C>T)
c.5293+25C>T (n.5293+25C>T)
c.5230+25C>T (n.5230+25C>T)
c.5101+25C>T (n.5101+25C>T)
c.5089+25C>T (n.5089+25C>T)
c.5062+25C>T (n.5062+25C>T)
n.5646+25C>T
n.5648+25C>T
c.5416+25C>T (n.5416+25C>T)
c.5410+25C>T (n.5410+25C>T)
c.5407+25C>T (n.5407+25C>T)
c.5302+25C>T (n.5302+25C>T)
c.5299+25C>T (n.5299+25C>T)
n.5431+25C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched