Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.71669144G>A | CA347222801 | DYSF | c.2993G>A (p.Arg998Lys) c.2210G>A (p.Arg737Lys) c.2318G>A (p.Arg773Lys) c.5462G>A (p.Arg1821Lys) c.5579G>A (p.Arg1860Lys) c.5465G>A (p.Arg1822Lys) c.5528G>A (p.Arg1843Lys) c.5576G>A (p.Arg1859Lys) c.5558G>A (p.Arg1853Lys) c.5486G>A (p.Arg1829Lys) c.5513G>A (p.Arg1838Lys) c.5516G>A (p.Arg1839Lys) c.5555G>A (p.Arg1852Lys) c.5525G>A (p.Arg1842Lys) n.2347G>A c.5420G>A (p.Arg1807Lys) c.5483G>A (p.Arg1828Lys) c.5423G>A (p.Arg1808Lys) c.5621G>A (p.Arg1874Lys) c.5618G>A (p.Arg1873Lys) | |
2 | g.71669144G>C | CA347222799 | DYSF | c.2993G>C (p.Arg998Thr) c.2210G>C (p.Arg737Thr) c.2318G>C (p.Arg773Thr) c.5462G>C (p.Arg1821Thr) c.5579G>C (p.Arg1860Thr) c.5465G>C (p.Arg1822Thr) c.5528G>C (p.Arg1843Thr) c.5576G>C (p.Arg1859Thr) c.5558G>C (p.Arg1853Thr) c.5486G>C (p.Arg1829Thr) c.5513G>C (p.Arg1838Thr) c.5516G>C (p.Arg1839Thr) c.5555G>C (p.Arg1852Thr) c.5525G>C (p.Arg1842Thr) n.2347G>C c.5420G>C (p.Arg1807Thr) c.5483G>C (p.Arg1828Thr) c.5423G>C (p.Arg1808Thr) c.5621G>C (p.Arg1874Thr) c.5618G>C (p.Arg1873Thr) | |
2 | g.71669144G>T | CA347222797 | DYSF | c.2993G>T (p.Arg998Ile) c.2210G>T (p.Arg737Ile) c.2318G>T (p.Arg773Ile) c.5462G>T (p.Arg1821Ile) c.5579G>T (p.Arg1860Ile) c.5465G>T (p.Arg1822Ile) c.5528G>T (p.Arg1843Ile) c.5576G>T (p.Arg1859Ile) c.5558G>T (p.Arg1853Ile) c.5486G>T (p.Arg1829Ile) c.5513G>T (p.Arg1838Ile) c.5516G>T (p.Arg1839Ile) c.5555G>T (p.Arg1852Ile) c.5525G>T (p.Arg1842Ile) n.2347G>T c.5420G>T (p.Arg1807Ile) c.5483G>T (p.Arg1828Ile) c.5423G>T (p.Arg1808Ile) c.5621G>T (p.Arg1874Ile) c.5618G>T (p.Arg1873Ile) | COSMIC COSMIC |
2 | g.71669145A>C | CA347222804 | DYSF | c.2994A>C (p.Arg998Ser) c.2211A>C (p.Arg737Ser) c.2319A>C (p.Arg773Ser) c.5463A>C (p.Arg1821Ser) c.5580A>C (p.Arg1860Ser) c.5466A>C (p.Arg1822Ser) c.5529A>C (p.Arg1843Ser) c.5577A>C (p.Arg1859Ser) c.5559A>C (p.Arg1853Ser) c.5487A>C (p.Arg1829Ser) c.5514A>C (p.Arg1838Ser) c.5517A>C (p.Arg1839Ser) c.5556A>C (p.Arg1852Ser) c.5526A>C (p.Arg1842Ser) n.2348A>C c.5421A>C (p.Arg1807Ser) c.5484A>C (p.Arg1828Ser) c.5424A>C (p.Arg1808Ser) c.5622A>C (p.Arg1874Ser) c.5619A>C (p.Arg1873Ser) | |
2 | g.71669145A>G | CA426704406 | DYSF | c.2994A>G (p.Arg998=) c.2211A>G (p.Arg737=) c.2319A>G (p.Arg773=) c.5463A>G (p.Arg1821=) c.5580A>G (p.Arg1860=) c.5466A>G (p.Arg1822=) c.5529A>G (p.Arg1843=) c.5577A>G (p.Arg1859=) c.5559A>G (p.Arg1853=) c.5487A>G (p.Arg1829=) c.5514A>G (p.Arg1838=) c.5517A>G (p.Arg1839=) c.5556A>G (p.Arg1852=) c.5526A>G (p.Arg1842=) n.2348A>G c.5421A>G (p.Arg1807=) c.5484A>G (p.Arg1828=) c.5424A>G (p.Arg1808=) c.5622A>G (p.Arg1874=) c.5619A>G (p.Arg1873=) | |
2 | g.71669145A>T | CA347222806 | DYSF | c.2994A>T (p.Arg998Ser) c.2211A>T (p.Arg737Ser) c.2319A>T (p.Arg773Ser) c.5463A>T (p.Arg1821Ser) c.5580A>T (p.Arg1860Ser) c.5466A>T (p.Arg1822Ser) c.5529A>T (p.Arg1843Ser) c.5577A>T (p.Arg1859Ser) c.5559A>T (p.Arg1853Ser) c.5487A>T (p.Arg1829Ser) c.5514A>T (p.Arg1838Ser) c.5517A>T (p.Arg1839Ser) c.5556A>T (p.Arg1852Ser) c.5526A>T (p.Arg1842Ser) n.2348A>T c.5421A>T (p.Arg1807Ser) c.5484A>T (p.Arg1828Ser) c.5424A>T (p.Arg1808Ser) c.5622A>T (p.Arg1874Ser) c.5619A>T (p.Arg1873Ser) | COSMIC COSMIC |
2 | g.71669146G>A | CA347222808 | DYSF | c.2995G>A (p.Asp999Asn) c.2212G>A (p.Asp738Asn) c.2320G>A (p.Asp774Asn) c.5464G>A (p.Asp1822Asn) c.5581G>A (p.Asp1861Asn) c.5467G>A (p.Asp1823Asn) c.5530G>A (p.Asp1844Asn) c.5578G>A (p.Asp1860Asn) c.5560G>A (p.Asp1854Asn) c.5488G>A (p.Asp1830Asn) c.5515G>A (p.Asp1839Asn) c.5518G>A (p.Asp1840Asn) c.5557G>A (p.Asp1853Asn) c.5527G>A (p.Asp1843Asn) n.2349G>A c.5422G>A (p.Asp1808Asn) c.5485G>A (p.Asp1829Asn) c.5425G>A (p.Asp1809Asn) c.5623G>A (p.Asp1875Asn) c.5620G>A (p.Asp1874Asn) | |
2 | g.71669146G>C | CA347222810 | DYSF | c.2995G>C (p.Asp999His) c.2212G>C (p.Asp738His) c.2320G>C (p.Asp774His) c.5464G>C (p.Asp1822His) c.5581G>C (p.Asp1861His) c.5467G>C (p.Asp1823His) c.5530G>C (p.Asp1844His) c.5578G>C (p.Asp1860His) c.5560G>C (p.Asp1854His) c.5488G>C (p.Asp1830His) c.5515G>C (p.Asp1839His) c.5518G>C (p.Asp1840His) c.5557G>C (p.Asp1853His) c.5527G>C (p.Asp1843His) n.2349G>C c.5422G>C (p.Asp1808His) c.5485G>C (p.Asp1829His) c.5425G>C (p.Asp1809His) c.5623G>C (p.Asp1875His) c.5620G>C (p.Asp1874His) | |
2 | g.71669146G>T | CA347222813 | DYSF | c.2995G>T (p.Asp999Tyr) c.2212G>T (p.Asp738Tyr) c.2320G>T (p.Asp774Tyr) c.5464G>T (p.Asp1822Tyr) c.5581G>T (p.Asp1861Tyr) c.5467G>T (p.Asp1823Tyr) c.5530G>T (p.Asp1844Tyr) c.5578G>T (p.Asp1860Tyr) c.5560G>T (p.Asp1854Tyr) c.5488G>T (p.Asp1830Tyr) c.5515G>T (p.Asp1839Tyr) c.5518G>T (p.Asp1840Tyr) c.5557G>T (p.Asp1853Tyr) c.5527G>T (p.Asp1843Tyr) n.2349G>T c.5422G>T (p.Asp1808Tyr) c.5485G>T (p.Asp1829Tyr) c.5425G>T (p.Asp1809Tyr) c.5623G>T (p.Asp1875Tyr) c.5620G>T (p.Asp1874Tyr) | gnomAD v4 |
2 | g.71669147A= | CA1260152192 | DYSF | c.2996A= (p.Asp999=) c.2213A= (p.Asp738=) c.2321A= (p.Asp774=) c.5465A= (p.Asp1822=) c.5582A= (p.Asp1861=) c.5468A= (p.Asp1823=) c.5531A= (p.Asp1844=) c.5579A= (p.Asp1860=) c.5561A= (p.Asp1854=) c.5489A= (p.Asp1830=) c.5516A= (p.Asp1839=) c.5519A= (p.Asp1840=) c.5558A= (p.Asp1853=) c.5528A= (p.Asp1843=) n.2350A= c.5423A= (p.Asp1808=) c.5486A= (p.Asp1829=) c.5426A= (p.Asp1809=) c.5624A= (p.Asp1875=) c.5621A= (p.Asp1874=) | |
2 | g.71669147A>C | CA347222820 | DYSF | c.2996A>C (p.Asp999Ala) c.2213A>C (p.Asp738Ala) c.2321A>C (p.Asp774Ala) c.5465A>C (p.Asp1822Ala) c.5582A>C (p.Asp1861Ala) c.5468A>C (p.Asp1823Ala) c.5531A>C (p.Asp1844Ala) c.5579A>C (p.Asp1860Ala) c.5561A>C (p.Asp1854Ala) c.5489A>C (p.Asp1830Ala) c.5516A>C (p.Asp1839Ala) c.5519A>C (p.Asp1840Ala) c.5558A>C (p.Asp1853Ala) c.5528A>C (p.Asp1843Ala) n.2350A>C c.5423A>C (p.Asp1808Ala) c.5486A>C (p.Asp1829Ala) c.5426A>C (p.Asp1809Ala) c.5624A>C (p.Asp1875Ala) c.5621A>C (p.Asp1874Ala) | |
2 | g.71669147A>G | CA347222818 | DYSF | c.2996A>G (p.Asp999Gly) c.2213A>G (p.Asp738Gly) c.2321A>G (p.Asp774Gly) c.5465A>G (p.Asp1822Gly) c.5582A>G (p.Asp1861Gly) c.5468A>G (p.Asp1823Gly) c.5531A>G (p.Asp1844Gly) c.5579A>G (p.Asp1860Gly) c.5561A>G (p.Asp1854Gly) c.5489A>G (p.Asp1830Gly) c.5516A>G (p.Asp1839Gly) c.5519A>G (p.Asp1840Gly) c.5558A>G (p.Asp1853Gly) c.5528A>G (p.Asp1843Gly) n.2350A>G c.5423A>G (p.Asp1808Gly) c.5486A>G (p.Asp1829Gly) c.5426A>G (p.Asp1809Gly) c.5624A>G (p.Asp1875Gly) c.5621A>G (p.Asp1874Gly) | gnomAD v4 |
2 | g.71669147A>T | CA347222817 | DYSF | c.2996A>T (p.Asp999Val) c.2213A>T (p.Asp738Val) c.2321A>T (p.Asp774Val) c.5465A>T (p.Asp1822Val) c.5582A>T (p.Asp1861Val) c.5468A>T (p.Asp1823Val) c.5531A>T (p.Asp1844Val) c.5579A>T (p.Asp1860Val) c.5561A>T (p.Asp1854Val) c.5489A>T (p.Asp1830Val) c.5516A>T (p.Asp1839Val) c.5519A>T (p.Asp1840Val) c.5558A>T (p.Asp1853Val) c.5528A>T (p.Asp1843Val) n.2350A>T c.5423A>T (p.Asp1808Val) c.5486A>T (p.Asp1829Val) c.5426A>T (p.Asp1809Val) c.5624A>T (p.Asp1875Val) c.5621A>T (p.Asp1874Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71669148T>A | CA347222821 | DYSF | c.2997T>A (p.Asp999Glu) c.2214T>A (p.Asp738Glu) c.2322T>A (p.Asp774Glu) c.5466T>A (p.Asp1822Glu) c.5583T>A (p.Asp1861Glu) c.5469T>A (p.Asp1823Glu) c.5532T>A (p.Asp1844Glu) c.5580T>A (p.Asp1860Glu) c.5562T>A (p.Asp1854Glu) c.5490T>A (p.Asp1830Glu) c.5517T>A (p.Asp1839Glu) c.5520T>A (p.Asp1840Glu) c.5559T>A (p.Asp1853Glu) c.5529T>A (p.Asp1843Glu) n.2351T>A c.5424T>A (p.Asp1808Glu) c.5487T>A (p.Asp1829Glu) c.5427T>A (p.Asp1809Glu) c.5625T>A (p.Asp1875Glu) c.5622T>A (p.Asp1874Glu) | |
2 | g.71669148T>C | CA1707435 | DYSF | c.2997T>C (p.Asp999=) c.2214T>C (p.Asp738=) c.2322T>C (p.Asp774=) c.5466T>C (p.Asp1822=) c.5583T>C (p.Asp1861=) c.5469T>C (p.Asp1823=) c.5532T>C (p.Asp1844=) c.5580T>C (p.Asp1860=) c.5562T>C (p.Asp1854=) c.5490T>C (p.Asp1830=) c.5517T>C (p.Asp1839=) c.5520T>C (p.Asp1840=) c.5559T>C (p.Asp1853=) c.5529T>C (p.Asp1843=) n.2351T>C c.5424T>C (p.Asp1808=) c.5487T>C (p.Asp1829=) c.5427T>C (p.Asp1809=) c.5625T>C (p.Asp1875=) c.5622T>C (p.Asp1874=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71669148T>G | CA347222827 | DYSF | c.2997T>G (p.Asp999Glu) c.2214T>G (p.Asp738Glu) c.2322T>G (p.Asp774Glu) c.5466T>G (p.Asp1822Glu) c.5583T>G (p.Asp1861Glu) c.5469T>G (p.Asp1823Glu) c.5532T>G (p.Asp1844Glu) c.5580T>G (p.Asp1860Glu) c.5562T>G (p.Asp1854Glu) c.5490T>G (p.Asp1830Glu) c.5517T>G (p.Asp1839Glu) c.5520T>G (p.Asp1840Glu) c.5559T>G (p.Asp1853Glu) c.5529T>G (p.Asp1843Glu) n.2351T>G c.5424T>G (p.Asp1808Glu) c.5487T>G (p.Asp1829Glu) c.5427T>G (p.Asp1809Glu) c.5625T>G (p.Asp1875Glu) c.5622T>G (p.Asp1874Glu) | |
2 | g.71669148T= | CA1260152193 | DYSF | c.2997T= (p.Asp999=) c.2214T= (p.Asp738=) c.2322T= (p.Asp774=) c.5466T= (p.Asp1822=) c.5583T= (p.Asp1861=) c.5469T= (p.Asp1823=) c.5532T= (p.Asp1844=) c.5580T= (p.Asp1860=) c.5562T= (p.Asp1854=) c.5490T= (p.Asp1830=) c.5517T= (p.Asp1839=) c.5520T= (p.Asp1840=) c.5559T= (p.Asp1853=) c.5529T= (p.Asp1843=) n.2351T= c.5424T= (p.Asp1808=) c.5487T= (p.Asp1829=) c.5427T= (p.Asp1809=) c.5625T= (p.Asp1875=) c.5622T= (p.Asp1874=) | |
2 | g.71669149G>A | CA347222831 | DYSF | c.2998G>A (p.Val1000Met) c.2215G>A (p.Val739Met) c.2323G>A (p.Val775Met) c.5467G>A (p.Val1823Met) c.5584G>A (p.Val1862Met) c.5470G>A (p.Val1824Met) c.5533G>A (p.Val1845Met) c.5581G>A (p.Val1861Met) c.5563G>A (p.Val1855Met) c.5491G>A (p.Val1831Met) c.5518G>A (p.Val1840Met) c.5521G>A (p.Val1841Met) c.5560G>A (p.Val1854Met) c.5530G>A (p.Val1844Met) n.2352G>A c.5425G>A (p.Val1809Met) c.5488G>A (p.Val1830Met) c.5428G>A (p.Val1810Met) c.5626G>A (p.Val1876Met) c.5623G>A (p.Val1875Met) | gnomAD v4 |
2 | g.71669149G>C | CA347222834 | DYSF | c.2998G>C (p.Val1000Leu) c.2215G>C (p.Val739Leu) c.2323G>C (p.Val775Leu) c.5467G>C (p.Val1823Leu) c.5584G>C (p.Val1862Leu) c.5470G>C (p.Val1824Leu) c.5533G>C (p.Val1845Leu) c.5581G>C (p.Val1861Leu) c.5563G>C (p.Val1855Leu) c.5491G>C (p.Val1831Leu) c.5518G>C (p.Val1840Leu) c.5521G>C (p.Val1841Leu) c.5560G>C (p.Val1854Leu) c.5530G>C (p.Val1844Leu) n.2352G>C c.5425G>C (p.Val1809Leu) c.5488G>C (p.Val1830Leu) c.5428G>C (p.Val1810Leu) c.5626G>C (p.Val1876Leu) c.5623G>C (p.Val1875Leu) | |
2 | g.71669149G>T | CA347222835 | DYSF | c.2998G>T (p.Val1000Leu) c.2215G>T (p.Val739Leu) c.2323G>T (p.Val775Leu) c.5467G>T (p.Val1823Leu) c.5584G>T (p.Val1862Leu) c.5470G>T (p.Val1824Leu) c.5533G>T (p.Val1845Leu) c.5581G>T (p.Val1861Leu) c.5563G>T (p.Val1855Leu) c.5491G>T (p.Val1831Leu) c.5518G>T (p.Val1840Leu) c.5521G>T (p.Val1841Leu) c.5560G>T (p.Val1854Leu) c.5530G>T (p.Val1844Leu) n.2352G>T c.5425G>T (p.Val1809Leu) c.5488G>T (p.Val1830Leu) c.5428G>T (p.Val1810Leu) c.5626G>T (p.Val1876Leu) c.5623G>T (p.Val1875Leu) | |
2 | g.71669150T>A | CA10605398 | DYSF | c.2999T>A (p.Val1000Glu) c.2216T>A (p.Val739Glu) c.2324T>A (p.Val775Glu) c.5468T>A (p.Val1823Glu) c.5585T>A (p.Val1862Glu) c.5471T>A (p.Val1824Glu) c.5534T>A (p.Val1845Glu) c.5582T>A (p.Val1861Glu) c.5564T>A (p.Val1855Glu) c.5492T>A (p.Val1831Glu) c.5519T>A (p.Val1840Glu) c.5522T>A (p.Val1841Glu) c.5561T>A (p.Val1854Glu) c.5531T>A (p.Val1844Glu) n.2353T>A c.5426T>A (p.Val1809Glu) c.5489T>A (p.Val1830Glu) c.5429T>A (p.Val1810Glu) c.5627T>A (p.Val1876Glu) c.5624T>A (p.Val1875Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71669150T>C | CA347222843 | DYSF | c.2999T>C (p.Val1000Ala) c.2216T>C (p.Val739Ala) c.2324T>C (p.Val775Ala) c.5468T>C (p.Val1823Ala) c.5585T>C (p.Val1862Ala) c.5471T>C (p.Val1824Ala) c.5534T>C (p.Val1845Ala) c.5582T>C (p.Val1861Ala) c.5564T>C (p.Val1855Ala) c.5492T>C (p.Val1831Ala) c.5519T>C (p.Val1840Ala) c.5522T>C (p.Val1841Ala) c.5561T>C (p.Val1854Ala) c.5531T>C (p.Val1844Ala) n.2353T>C c.5426T>C (p.Val1809Ala) c.5489T>C (p.Val1830Ala) c.5429T>C (p.Val1810Ala) c.5627T>C (p.Val1876Ala) c.5624T>C (p.Val1875Ala) | ClinVar dbSNP gnomAD v4 |
2 | g.71669150T>G | CA347222841 | DYSF | c.2999T>G (p.Val1000Gly) c.2216T>G (p.Val739Gly) c.2324T>G (p.Val775Gly) c.5468T>G (p.Val1823Gly) c.5585T>G (p.Val1862Gly) c.5471T>G (p.Val1824Gly) c.5534T>G (p.Val1845Gly) c.5582T>G (p.Val1861Gly) c.5564T>G (p.Val1855Gly) c.5492T>G (p.Val1831Gly) c.5519T>G (p.Val1840Gly) c.5522T>G (p.Val1841Gly) c.5561T>G (p.Val1854Gly) c.5531T>G (p.Val1844Gly) n.2353T>G c.5426T>G (p.Val1809Gly) c.5489T>G (p.Val1830Gly) c.5429T>G (p.Val1810Gly) c.5627T>G (p.Val1876Gly) c.5624T>G (p.Val1875Gly) | ClinVar |
2 | g.71669150T= | CA1260152194 | DYSF | c.2999T= (p.Val1000=) c.2216T= (p.Val739=) c.2324T= (p.Val775=) c.5468T= (p.Val1823=) c.5585T= (p.Val1862=) c.5471T= (p.Val1824=) c.5534T= (p.Val1845=) c.5582T= (p.Val1861=) c.5564T= (p.Val1855=) c.5492T= (p.Val1831=) c.5519T= (p.Val1840=) c.5522T= (p.Val1841=) c.5561T= (p.Val1854=) c.5531T= (p.Val1844=) n.2353T= c.5426T= (p.Val1809=) c.5489T= (p.Val1830=) c.5429T= (p.Val1810=) c.5627T= (p.Val1876=) c.5624T= (p.Val1875=) | |
2 | g.71669151G>A | CA426704410 | DYSF | c.3000G>A (p.Val1000=) c.2217G>A (p.Val739=) c.2325G>A (p.Val775=) c.5469G>A (p.Val1823=) c.5586G>A (p.Val1862=) c.5472G>A (p.Val1824=) c.5535G>A (p.Val1845=) c.5583G>A (p.Val1861=) c.5565G>A (p.Val1855=) c.5493G>A (p.Val1831=) c.5520G>A (p.Val1840=) c.5523G>A (p.Val1841=) c.5562G>A (p.Val1854=) c.5532G>A (p.Val1844=) n.2354G>A c.5427G>A (p.Val1809=) c.5490G>A (p.Val1830=) c.5430G>A (p.Val1810=) c.5628G>A (p.Val1876=) c.5625G>A (p.Val1875=) | COSMIC COSMIC |
2 | g.71669151G>C | CA1707436 | DYSF | c.3000G>C (p.Val1000=) c.2217G>C (p.Val739=) c.2325G>C (p.Val775=) c.5469G>C (p.Val1823=) c.5586G>C (p.Val1862=) c.5472G>C (p.Val1824=) c.5535G>C (p.Val1845=) c.5583G>C (p.Val1861=) c.5565G>C (p.Val1855=) c.5493G>C (p.Val1831=) c.5520G>C (p.Val1840=) c.5523G>C (p.Val1841=) c.5562G>C (p.Val1854=) c.5532G>C (p.Val1844=) n.2354G>C c.5427G>C (p.Val1809=) c.5490G>C (p.Val1830=) c.5430G>C (p.Val1810=) c.5628G>C (p.Val1876=) c.5625G>C (p.Val1875=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71669151G= | CA1260152195 | DYSF | c.3000G= (p.Val1000=) c.2217G= (p.Val739=) c.2325G= (p.Val775=) c.5469G= (p.Val1823=) c.5586G= (p.Val1862=) c.5472G= (p.Val1824=) c.5535G= (p.Val1845=) c.5583G= (p.Val1861=) c.5565G= (p.Val1855=) c.5493G= (p.Val1831=) c.5520G= (p.Val1840=) c.5523G= (p.Val1841=) c.5562G= (p.Val1854=) c.5532G= (p.Val1844=) n.2354G= c.5427G= (p.Val1809=) c.5490G= (p.Val1830=) c.5430G= (p.Val1810=) c.5628G= (p.Val1876=) c.5625G= (p.Val1875=) | |
2 | g.71669151G>T | CA426704411 | DYSF | c.3000G>T (p.Val1000=) c.2217G>T (p.Val739=) c.2325G>T (p.Val775=) c.5469G>T (p.Val1823=) c.5586G>T (p.Val1862=) c.5472G>T (p.Val1824=) c.5535G>T (p.Val1845=) c.5583G>T (p.Val1861=) c.5565G>T (p.Val1855=) c.5493G>T (p.Val1831=) c.5520G>T (p.Val1840=) c.5523G>T (p.Val1841=) c.5562G>T (p.Val1854=) c.5532G>T (p.Val1844=) n.2354G>T c.5427G>T (p.Val1809=) c.5490G>T (p.Val1830=) c.5430G>T (p.Val1810=) c.5628G>T (p.Val1876=) c.5625G>T (p.Val1875=) | |
2 | g.71669152A= | CA1260152196 | DYSF | c.3001A= (p.Ile1001=) c.2218A= (p.Ile740=) c.2326A= (p.Ile776=) c.5470A= (p.Ile1824=) c.5587A= (p.Ile1863=) c.5473A= (p.Ile1825=) c.5536A= (p.Ile1846=) c.5584A= (p.Ile1862=) c.5566A= (p.Ile1856=) c.5494A= (p.Ile1832=) c.5521A= (p.Ile1841=) c.5524A= (p.Ile1842=) c.5563A= (p.Ile1855=) c.5533A= (p.Ile1845=) n.2355A= c.5428A= (p.Ile1810=) c.5491A= (p.Ile1831=) c.5431A= (p.Ile1811=) c.5629A= (p.Ile1877=) c.5626A= (p.Ile1876=) | |
2 | g.71669152A>C | CA347222849 | DYSF | c.3001A>C (p.Ile1001Leu) c.2218A>C (p.Ile740Leu) c.2326A>C (p.Ile776Leu) c.5470A>C (p.Ile1824Leu) c.5587A>C (p.Ile1863Leu) c.5473A>C (p.Ile1825Leu) c.5536A>C (p.Ile1846Leu) c.5584A>C (p.Ile1862Leu) c.5566A>C (p.Ile1856Leu) c.5494A>C (p.Ile1832Leu) c.5521A>C (p.Ile1841Leu) c.5524A>C (p.Ile1842Leu) c.5563A>C (p.Ile1855Leu) c.5533A>C (p.Ile1845Leu) n.2355A>C c.5428A>C (p.Ile1810Leu) c.5491A>C (p.Ile1831Leu) c.5431A>C (p.Ile1811Leu) c.5629A>C (p.Ile1877Leu) c.5626A>C (p.Ile1876Leu) | |
2 | g.71669152A>G | CA347222851 | DYSF | c.3001A>G (p.Ile1001Val) c.2218A>G (p.Ile740Val) c.2326A>G (p.Ile776Val) c.5470A>G (p.Ile1824Val) c.5587A>G (p.Ile1863Val) c.5473A>G (p.Ile1825Val) c.5536A>G (p.Ile1846Val) c.5584A>G (p.Ile1862Val) c.5566A>G (p.Ile1856Val) c.5494A>G (p.Ile1832Val) c.5521A>G (p.Ile1841Val) c.5524A>G (p.Ile1842Val) c.5563A>G (p.Ile1855Val) c.5533A>G (p.Ile1845Val) n.2355A>G c.5428A>G (p.Ile1810Val) c.5491A>G (p.Ile1831Val) c.5431A>G (p.Ile1811Val) c.5629A>G (p.Ile1877Val) c.5626A>G (p.Ile1876Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71669152A>T | CA347222853 | DYSF | c.3001A>T (p.Ile1001Phe) c.2218A>T (p.Ile740Phe) c.2326A>T (p.Ile776Phe) c.5470A>T (p.Ile1824Phe) c.5587A>T (p.Ile1863Phe) c.5473A>T (p.Ile1825Phe) c.5536A>T (p.Ile1846Phe) c.5584A>T (p.Ile1862Phe) c.5566A>T (p.Ile1856Phe) c.5494A>T (p.Ile1832Phe) c.5521A>T (p.Ile1841Phe) c.5524A>T (p.Ile1842Phe) c.5563A>T (p.Ile1855Phe) c.5533A>T (p.Ile1845Phe) n.2355A>T c.5428A>T (p.Ile1810Phe) c.5491A>T (p.Ile1831Phe) c.5431A>T (p.Ile1811Phe) c.5629A>T (p.Ile1877Phe) c.5626A>T (p.Ile1876Phe) | |
2 | g.71669153T>A | CA347222854 | DYSF | c.3002T>A (p.Ile1001Asn) c.2219T>A (p.Ile740Asn) c.2327T>A (p.Ile776Asn) c.5471T>A (p.Ile1824Asn) c.5588T>A (p.Ile1863Asn) c.5474T>A (p.Ile1825Asn) c.5537T>A (p.Ile1846Asn) c.5585T>A (p.Ile1862Asn) c.5567T>A (p.Ile1856Asn) c.5495T>A (p.Ile1832Asn) c.5522T>A (p.Ile1841Asn) c.5525T>A (p.Ile1842Asn) c.5564T>A (p.Ile1855Asn) c.5534T>A (p.Ile1845Asn) n.2356T>A c.5429T>A (p.Ile1810Asn) c.5492T>A (p.Ile1831Asn) c.5432T>A (p.Ile1811Asn) c.5630T>A (p.Ile1877Asn) c.5627T>A (p.Ile1876Asn) | |
2 | g.71669153T>C | CA347222856 | DYSF | c.3002T>C (p.Ile1001Thr) c.2219T>C (p.Ile740Thr) c.2327T>C (p.Ile776Thr) c.5471T>C (p.Ile1824Thr) c.5588T>C (p.Ile1863Thr) c.5474T>C (p.Ile1825Thr) c.5537T>C (p.Ile1846Thr) c.5585T>C (p.Ile1862Thr) c.5567T>C (p.Ile1856Thr) c.5495T>C (p.Ile1832Thr) c.5522T>C (p.Ile1841Thr) c.5525T>C (p.Ile1842Thr) c.5564T>C (p.Ile1855Thr) c.5534T>C (p.Ile1845Thr) n.2356T>C c.5429T>C (p.Ile1810Thr) c.5492T>C (p.Ile1831Thr) c.5432T>C (p.Ile1811Thr) c.5630T>C (p.Ile1877Thr) c.5627T>C (p.Ile1876Thr) | |
2 | g.71669153T>G | CA347222859 | DYSF | c.3002T>G (p.Ile1001Ser) c.2219T>G (p.Ile740Ser) c.2327T>G (p.Ile776Ser) c.5471T>G (p.Ile1824Ser) c.5588T>G (p.Ile1863Ser) c.5474T>G (p.Ile1825Ser) c.5537T>G (p.Ile1846Ser) c.5585T>G (p.Ile1862Ser) c.5567T>G (p.Ile1856Ser) c.5495T>G (p.Ile1832Ser) c.5522T>G (p.Ile1841Ser) c.5525T>G (p.Ile1842Ser) c.5564T>G (p.Ile1855Ser) c.5534T>G (p.Ile1845Ser) n.2356T>G c.5429T>G (p.Ile1810Ser) c.5492T>G (p.Ile1831Ser) c.5432T>G (p.Ile1811Ser) c.5630T>G (p.Ile1877Ser) c.5627T>G (p.Ile1876Ser) | |
2 | g.71669154C>A | CA426704413 | DYSF | c.3003C>A (p.Ile1001=) c.2220C>A (p.Ile740=) c.2328C>A (p.Ile776=) c.5472C>A (p.Ile1824=) c.5589C>A (p.Ile1863=) c.5475C>A (p.Ile1825=) c.5538C>A (p.Ile1846=) c.5586C>A (p.Ile1862=) c.5568C>A (p.Ile1856=) c.5496C>A (p.Ile1832=) c.5523C>A (p.Ile1841=) c.5526C>A (p.Ile1842=) c.5565C>A (p.Ile1855=) c.5535C>A (p.Ile1845=) n.2357C>A c.5430C>A (p.Ile1810=) c.5493C>A (p.Ile1831=) c.5433C>A (p.Ile1811=) c.5631C>A (p.Ile1877=) c.5628C>A (p.Ile1876=) | gnomAD v4 |
2 | g.71669154C= | CA1260152197 | DYSF | c.3003C= (p.Ile1001=) c.2220C= (p.Ile740=) c.2328C= (p.Ile776=) c.5472C= (p.Ile1824=) c.5589C= (p.Ile1863=) c.5475C= (p.Ile1825=) c.5538C= (p.Ile1846=) c.5586C= (p.Ile1862=) c.5568C= (p.Ile1856=) c.5496C= (p.Ile1832=) c.5523C= (p.Ile1841=) c.5526C= (p.Ile1842=) c.5565C= (p.Ile1855=) c.5535C= (p.Ile1845=) n.2357C= c.5430C= (p.Ile1810=) c.5493C= (p.Ile1831=) c.5433C= (p.Ile1811=) c.5631C= (p.Ile1877=) c.5628C= (p.Ile1876=) | |
2 | g.71669154C>G | CA347222862 | DYSF | c.3003C>G (p.Ile1001Met) c.2220C>G (p.Ile740Met) c.2328C>G (p.Ile776Met) c.5472C>G (p.Ile1824Met) c.5589C>G (p.Ile1863Met) c.5475C>G (p.Ile1825Met) c.5538C>G (p.Ile1846Met) c.5586C>G (p.Ile1862Met) c.5568C>G (p.Ile1856Met) c.5496C>G (p.Ile1832Met) c.5523C>G (p.Ile1841Met) c.5526C>G (p.Ile1842Met) c.5565C>G (p.Ile1855Met) c.5535C>G (p.Ile1845Met) n.2357C>G c.5430C>G (p.Ile1810Met) c.5493C>G (p.Ile1831Met) c.5433C>G (p.Ile1811Met) c.5631C>G (p.Ile1877Met) c.5628C>G (p.Ile1876Met) | |
2 | g.71669154C>T | CA1707437 | DYSF | c.3003C>T (p.Ile1001=) c.2220C>T (p.Ile740=) c.2328C>T (p.Ile776=) c.5472C>T (p.Ile1824=) c.5589C>T (p.Ile1863=) c.5475C>T (p.Ile1825=) c.5538C>T (p.Ile1846=) c.5586C>T (p.Ile1862=) c.5568C>T (p.Ile1856=) c.5496C>T (p.Ile1832=) c.5523C>T (p.Ile1841=) c.5526C>T (p.Ile1842=) c.5565C>T (p.Ile1855=) c.5535C>T (p.Ile1845=) n.2357C>T c.5430C>T (p.Ile1810=) c.5493C>T (p.Ile1831=) c.5433C>T (p.Ile1811=) c.5631C>T (p.Ile1877=) c.5628C>T (p.Ile1876=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71669155C>A | CA347222867 | DYSF | c.3004C>A (p.Leu1002Met) c.2221C>A (p.Leu741Met) c.2329C>A (p.Leu777Met) c.5473C>A (p.Leu1825Met) c.5590C>A (p.Leu1864Met) c.5476C>A (p.Leu1826Met) c.5539C>A (p.Leu1847Met) c.5587C>A (p.Leu1863Met) c.5569C>A (p.Leu1857Met) c.5497C>A (p.Leu1833Met) c.5524C>A (p.Leu1842Met) c.5527C>A (p.Leu1843Met) c.5566C>A (p.Leu1856Met) c.5536C>A (p.Leu1846Met) n.2358C>A c.5431C>A (p.Leu1811Met) c.5494C>A (p.Leu1832Met) c.5434C>A (p.Leu1812Met) c.5632C>A (p.Leu1878Met) c.5629C>A (p.Leu1877Met) | gnomAD v4 |
2 | g.71669155C>G | CA347222869 | DYSF | c.3004C>G (p.Leu1002Val) c.2221C>G (p.Leu741Val) c.2329C>G (p.Leu777Val) c.5473C>G (p.Leu1825Val) c.5590C>G (p.Leu1864Val) c.5476C>G (p.Leu1826Val) c.5539C>G (p.Leu1847Val) c.5587C>G (p.Leu1863Val) c.5569C>G (p.Leu1857Val) c.5497C>G (p.Leu1833Val) c.5524C>G (p.Leu1842Val) c.5527C>G (p.Leu1843Val) c.5566C>G (p.Leu1856Val) c.5536C>G (p.Leu1846Val) n.2358C>G c.5431C>G (p.Leu1811Val) c.5494C>G (p.Leu1832Val) c.5434C>G (p.Leu1812Val) c.5632C>G (p.Leu1878Val) c.5629C>G (p.Leu1877Val) | |
2 | g.71669155C>T | CA426704415 | DYSF | c.3004C>T (p.Leu1002=) c.2221C>T (p.Leu741=) c.2329C>T (p.Leu777=) c.5473C>T (p.Leu1825=) c.5590C>T (p.Leu1864=) c.5476C>T (p.Leu1826=) c.5539C>T (p.Leu1847=) c.5587C>T (p.Leu1863=) c.5569C>T (p.Leu1857=) c.5497C>T (p.Leu1833=) c.5524C>T (p.Leu1842=) c.5527C>T (p.Leu1843=) c.5566C>T (p.Leu1856=) c.5536C>T (p.Leu1846=) n.2358C>T c.5431C>T (p.Leu1811=) c.5494C>T (p.Leu1832=) c.5434C>T (p.Leu1812=) c.5632C>T (p.Leu1878=) c.5629C>T (p.Leu1877=) | |
2 | g.71669156T>A | CA347222873 | DYSF | c.3005T>A (p.Leu1002Gln) c.2222T>A (p.Leu741Gln) c.2330T>A (p.Leu777Gln) c.5474T>A (p.Leu1825Gln) c.5591T>A (p.Leu1864Gln) c.5477T>A (p.Leu1826Gln) c.5540T>A (p.Leu1847Gln) c.5588T>A (p.Leu1863Gln) c.5570T>A (p.Leu1857Gln) c.5498T>A (p.Leu1833Gln) c.5525T>A (p.Leu1842Gln) c.5528T>A (p.Leu1843Gln) c.5567T>A (p.Leu1856Gln) c.5537T>A (p.Leu1846Gln) n.2359T>A c.5432T>A (p.Leu1811Gln) c.5495T>A (p.Leu1832Gln) c.5435T>A (p.Leu1812Gln) c.5633T>A (p.Leu1878Gln) c.5630T>A (p.Leu1877Gln) | ClinVar dbSNP |
2 | g.71669156T>C | CA1707438 | DYSF | c.3005T>C (p.Leu1002Pro) c.2222T>C (p.Leu741Pro) c.2330T>C (p.Leu777Pro) c.5474T>C (p.Leu1825Pro) c.5591T>C (p.Leu1864Pro) c.5477T>C (p.Leu1826Pro) c.5540T>C (p.Leu1847Pro) c.5588T>C (p.Leu1863Pro) c.5570T>C (p.Leu1857Pro) c.5498T>C (p.Leu1833Pro) c.5525T>C (p.Leu1842Pro) c.5528T>C (p.Leu1843Pro) c.5567T>C (p.Leu1856Pro) c.5537T>C (p.Leu1846Pro) n.2359T>C c.5432T>C (p.Leu1811Pro) c.5495T>C (p.Leu1832Pro) c.5435T>C (p.Leu1812Pro) c.5633T>C (p.Leu1878Pro) c.5630T>C (p.Leu1877Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71669156T>G | CA347222871 | DYSF | c.3005T>G (p.Leu1002Arg) c.2222T>G (p.Leu741Arg) c.2330T>G (p.Leu777Arg) c.5474T>G (p.Leu1825Arg) c.5591T>G (p.Leu1864Arg) c.5477T>G (p.Leu1826Arg) c.5540T>G (p.Leu1847Arg) c.5588T>G (p.Leu1863Arg) c.5570T>G (p.Leu1857Arg) c.5498T>G (p.Leu1833Arg) c.5525T>G (p.Leu1842Arg) c.5528T>G (p.Leu1843Arg) c.5567T>G (p.Leu1856Arg) c.5537T>G (p.Leu1846Arg) n.2359T>G c.5432T>G (p.Leu1811Arg) c.5495T>G (p.Leu1832Arg) c.5435T>G (p.Leu1812Arg) c.5633T>G (p.Leu1878Arg) c.5630T>G (p.Leu1877Arg) | |
2 | g.71669156T= | CA1260152198 | DYSF | c.3005T= (p.Leu1002=) c.2222T= (p.Leu741=) c.2330T= (p.Leu777=) c.5474T= (p.Leu1825=) c.5591T= (p.Leu1864=) c.5477T= (p.Leu1826=) c.5540T= (p.Leu1847=) c.5588T= (p.Leu1863=) c.5570T= (p.Leu1857=) c.5498T= (p.Leu1833=) c.5525T= (p.Leu1842=) c.5528T= (p.Leu1843=) c.5567T= (p.Leu1856=) c.5537T= (p.Leu1846=) n.2359T= c.5432T= (p.Leu1811=) c.5495T= (p.Leu1832=) c.5435T= (p.Leu1812=) c.5633T= (p.Leu1878=) c.5630T= (p.Leu1877=) | |
2 | g.71669157G>A | CA426704418 | DYSF | c.3006G>A (p.Leu1002=) c.2223G>A (p.Leu741=) c.2331G>A (p.Leu777=) c.5475G>A (p.Leu1825=) c.5592G>A (p.Leu1864=) c.5478G>A (p.Leu1826=) c.5541G>A (p.Leu1847=) c.5589G>A (p.Leu1863=) c.5571G>A (p.Leu1857=) c.5499G>A (p.Leu1833=) c.5526G>A (p.Leu1842=) c.5529G>A (p.Leu1843=) c.5568G>A (p.Leu1856=) c.5538G>A (p.Leu1846=) n.2360G>A c.5433G>A (p.Leu1811=) c.5496G>A (p.Leu1832=) c.5436G>A (p.Leu1812=) c.5634G>A (p.Leu1878=) c.5631G>A (p.Leu1877=) | gnomAD v4 |
2 | g.71669157G>C | CA426704416 | DYSF | c.3006G>C (p.Leu1002=) c.2223G>C (p.Leu741=) c.2331G>C (p.Leu777=) c.5475G>C (p.Leu1825=) c.5592G>C (p.Leu1864=) c.5478G>C (p.Leu1826=) c.5541G>C (p.Leu1847=) c.5589G>C (p.Leu1863=) c.5571G>C (p.Leu1857=) c.5499G>C (p.Leu1833=) c.5526G>C (p.Leu1842=) c.5529G>C (p.Leu1843=) c.5568G>C (p.Leu1856=) c.5538G>C (p.Leu1846=) n.2360G>C c.5433G>C (p.Leu1811=) c.5496G>C (p.Leu1832=) c.5436G>C (p.Leu1812=) c.5634G>C (p.Leu1878=) c.5631G>C (p.Leu1877=) | |
2 | g.71669157G>T | CA426704417 | DYSF | c.3006G>T (p.Leu1002=) c.2223G>T (p.Leu741=) c.2331G>T (p.Leu777=) c.5475G>T (p.Leu1825=) c.5592G>T (p.Leu1864=) c.5478G>T (p.Leu1826=) c.5541G>T (p.Leu1847=) c.5589G>T (p.Leu1863=) c.5571G>T (p.Leu1857=) c.5499G>T (p.Leu1833=) c.5526G>T (p.Leu1842=) c.5529G>T (p.Leu1843=) c.5568G>T (p.Leu1856=) c.5538G>T (p.Leu1846=) n.2360G>T c.5433G>T (p.Leu1811=) c.5496G>T (p.Leu1832=) c.5436G>T (p.Leu1812=) c.5634G>T (p.Leu1878=) c.5631G>T (p.Leu1877=) | |
2 | g.71669158G>A | CA347222880 | DYSF | c.3007G>A (p.Asp1003Asn) c.2224G>A (p.Asp742Asn) c.2332G>A (p.Asp778Asn) c.5476G>A (p.Asp1826Asn) c.5593G>A (p.Asp1865Asn) c.5479G>A (p.Asp1827Asn) c.5542G>A (p.Asp1848Asn) c.5590G>A (p.Asp1864Asn) c.5572G>A (p.Asp1858Asn) c.5500G>A (p.Asp1834Asn) c.5527G>A (p.Asp1843Asn) c.5530G>A (p.Asp1844Asn) c.5569G>A (p.Asp1857Asn) c.5539G>A (p.Asp1847Asn) n.2361G>A c.5434G>A (p.Asp1812Asn) c.5497G>A (p.Asp1833Asn) c.5437G>A (p.Asp1813Asn) c.5635G>A (p.Asp1879Asn) c.5632G>A (p.Asp1878Asn) | dbSNP gnomAD v2 |
2 | g.71669158G>C | CA347222877 | DYSF | c.3007G>C (p.Asp1003His) c.2224G>C (p.Asp742His) c.2332G>C (p.Asp778His) c.5476G>C (p.Asp1826His) c.5593G>C (p.Asp1865His) c.5479G>C (p.Asp1827His) c.5542G>C (p.Asp1848His) c.5590G>C (p.Asp1864His) c.5572G>C (p.Asp1858His) c.5500G>C (p.Asp1834His) c.5527G>C (p.Asp1843His) c.5530G>C (p.Asp1844His) c.5569G>C (p.Asp1857His) c.5539G>C (p.Asp1847His) n.2361G>C c.5434G>C (p.Asp1812His) c.5497G>C (p.Asp1833His) c.5437G>C (p.Asp1813His) c.5635G>C (p.Asp1879His) c.5632G>C (p.Asp1878His) | |
2 | g.71669158G= | CA1260152199 | DYSF | c.3007G= (p.Asp1003=) c.2224G= (p.Asp742=) c.2332G= (p.Asp778=) c.5476G= (p.Asp1826=) c.5593G= (p.Asp1865=) c.5479G= (p.Asp1827=) c.5542G= (p.Asp1848=) c.5590G= (p.Asp1864=) c.5572G= (p.Asp1858=) c.5500G= (p.Asp1834=) c.5527G= (p.Asp1843=) c.5530G= (p.Asp1844=) c.5569G= (p.Asp1857=) c.5539G= (p.Asp1847=) n.2361G= c.5434G= (p.Asp1812=) c.5497G= (p.Asp1833=) c.5437G= (p.Asp1813=) c.5635G= (p.Asp1879=) c.5632G= (p.Asp1878=) | |
2 | g.71669158G>T | CA347222881 | DYSF | c.3007G>T (p.Asp1003Tyr) c.2224G>T (p.Asp742Tyr) c.2332G>T (p.Asp778Tyr) c.5476G>T (p.Asp1826Tyr) c.5593G>T (p.Asp1865Tyr) c.5479G>T (p.Asp1827Tyr) c.5542G>T (p.Asp1848Tyr) c.5590G>T (p.Asp1864Tyr) c.5572G>T (p.Asp1858Tyr) c.5500G>T (p.Asp1834Tyr) c.5527G>T (p.Asp1843Tyr) c.5530G>T (p.Asp1844Tyr) c.5569G>T (p.Asp1857Tyr) c.5539G>T (p.Asp1847Tyr) n.2361G>T c.5434G>T (p.Asp1812Tyr) c.5497G>T (p.Asp1833Tyr) c.5437G>T (p.Asp1813Tyr) c.5635G>T (p.Asp1879Tyr) c.5632G>T (p.Asp1878Tyr) | |
2 | g.71669159A= | CA1260152200 | DYSF | c.3008A= (p.Asp1003=) c.2225A= (p.Asp742=) c.2333A= (p.Asp778=) c.5477A= (p.Asp1826=) c.5594A= (p.Asp1865=) c.5480A= (p.Asp1827=) c.5543A= (p.Asp1848=) c.5591A= (p.Asp1864=) c.5573A= (p.Asp1858=) c.5501A= (p.Asp1834=) c.5528A= (p.Asp1843=) c.5531A= (p.Asp1844=) c.5570A= (p.Asp1857=) c.5540A= (p.Asp1847=) n.2362A= c.5435A= (p.Asp1812=) c.5498A= (p.Asp1833=) c.5438A= (p.Asp1813=) c.5636A= (p.Asp1879=) c.5633A= (p.Asp1878=) | |
2 | g.71669159A>C | CA347222885 | DYSF | c.3008A>C (p.Asp1003Ala) c.2225A>C (p.Asp742Ala) c.2333A>C (p.Asp778Ala) c.5477A>C (p.Asp1826Ala) c.5594A>C (p.Asp1865Ala) c.5480A>C (p.Asp1827Ala) c.5543A>C (p.Asp1848Ala) c.5591A>C (p.Asp1864Ala) c.5573A>C (p.Asp1858Ala) c.5501A>C (p.Asp1834Ala) c.5528A>C (p.Asp1843Ala) c.5531A>C (p.Asp1844Ala) c.5570A>C (p.Asp1857Ala) c.5540A>C (p.Asp1847Ala) n.2362A>C c.5435A>C (p.Asp1812Ala) c.5498A>C (p.Asp1833Ala) c.5438A>C (p.Asp1813Ala) c.5636A>C (p.Asp1879Ala) c.5633A>C (p.Asp1878Ala) | |
2 | g.71669159A>G | CA1707439 | DYSF | c.3008A>G (p.Asp1003Gly) c.2225A>G (p.Asp742Gly) c.2333A>G (p.Asp778Gly) c.5477A>G (p.Asp1826Gly) c.5594A>G (p.Asp1865Gly) c.5480A>G (p.Asp1827Gly) c.5543A>G (p.Asp1848Gly) c.5591A>G (p.Asp1864Gly) c.5573A>G (p.Asp1858Gly) c.5501A>G (p.Asp1834Gly) c.5528A>G (p.Asp1843Gly) c.5531A>G (p.Asp1844Gly) c.5570A>G (p.Asp1857Gly) c.5540A>G (p.Asp1847Gly) n.2362A>G c.5435A>G (p.Asp1812Gly) c.5498A>G (p.Asp1833Gly) c.5438A>G (p.Asp1813Gly) c.5636A>G (p.Asp1879Gly) c.5633A>G (p.Asp1878Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71669159A>T | CA347222888 | DYSF | c.3008A>T (p.Asp1003Val) c.2225A>T (p.Asp742Val) c.2333A>T (p.Asp778Val) c.5477A>T (p.Asp1826Val) c.5594A>T (p.Asp1865Val) c.5480A>T (p.Asp1827Val) c.5543A>T (p.Asp1848Val) c.5591A>T (p.Asp1864Val) c.5573A>T (p.Asp1858Val) c.5501A>T (p.Asp1834Val) c.5528A>T (p.Asp1843Val) c.5531A>T (p.Asp1844Val) c.5570A>T (p.Asp1857Val) c.5540A>T (p.Asp1847Val) n.2362A>T c.5435A>T (p.Asp1812Val) c.5498A>T (p.Asp1833Val) c.5438A>T (p.Asp1813Val) c.5636A>T (p.Asp1879Val) c.5633A>T (p.Asp1878Val) | |
2 | g.71669160T>A | CA347222891 | DYSF | c.3009T>A (p.Asp1003Glu) c.2226T>A (p.Asp742Glu) c.2334T>A (p.Asp778Glu) c.5478T>A (p.Asp1826Glu) c.5595T>A (p.Asp1865Glu) c.5481T>A (p.Asp1827Glu) c.5544T>A (p.Asp1848Glu) c.5592T>A (p.Asp1864Glu) c.5574T>A (p.Asp1858Glu) c.5502T>A (p.Asp1834Glu) c.5529T>A (p.Asp1843Glu) c.5532T>A (p.Asp1844Glu) c.5571T>A (p.Asp1857Glu) c.5541T>A (p.Asp1847Glu) n.2363T>A c.5436T>A (p.Asp1812Glu) c.5499T>A (p.Asp1833Glu) c.5439T>A (p.Asp1813Glu) c.5637T>A (p.Asp1879Glu) c.5634T>A (p.Asp1878Glu) | |
2 | g.71669160T>C | CA426704422 | DYSF | c.3009T>C (p.Asp1003=) c.2226T>C (p.Asp742=) c.2334T>C (p.Asp778=) c.5478T>C (p.Asp1826=) c.5595T>C (p.Asp1865=) c.5481T>C (p.Asp1827=) c.5544T>C (p.Asp1848=) c.5592T>C (p.Asp1864=) c.5574T>C (p.Asp1858=) c.5502T>C (p.Asp1834=) c.5529T>C (p.Asp1843=) c.5532T>C (p.Asp1844=) c.5571T>C (p.Asp1857=) c.5541T>C (p.Asp1847=) n.2363T>C c.5436T>C (p.Asp1812=) c.5499T>C (p.Asp1833=) c.5439T>C (p.Asp1813=) c.5637T>C (p.Asp1879=) c.5634T>C (p.Asp1878=) | |
2 | g.71669160T>G | CA347222894 | DYSF | c.3009T>G (p.Asp1003Glu) c.2226T>G (p.Asp742Glu) c.2334T>G (p.Asp778Glu) c.5478T>G (p.Asp1826Glu) c.5595T>G (p.Asp1865Glu) c.5481T>G (p.Asp1827Glu) c.5544T>G (p.Asp1848Glu) c.5592T>G (p.Asp1864Glu) c.5574T>G (p.Asp1858Glu) c.5502T>G (p.Asp1834Glu) c.5529T>G (p.Asp1843Glu) c.5532T>G (p.Asp1844Glu) c.5571T>G (p.Asp1857Glu) c.5541T>G (p.Asp1847Glu) n.2363T>G c.5436T>G (p.Asp1812Glu) c.5499T>G (p.Asp1833Glu) c.5439T>G (p.Asp1813Glu) c.5637T>G (p.Asp1879Glu) c.5634T>G (p.Asp1878Glu) | |
2 | g.71669161G>A | CA1707440 | DYSF | c.3010G>A (p.Asp1004Asn) c.2227G>A (p.Asp743Asn) c.2335G>A (p.Asp779Asn) c.5479G>A (p.Asp1827Asn) c.5596G>A (p.Asp1866Asn) c.5482G>A (p.Asp1828Asn) c.5545G>A (p.Asp1849Asn) c.5593G>A (p.Asp1865Asn) c.5575G>A (p.Asp1859Asn) c.5503G>A (p.Asp1835Asn) c.5530G>A (p.Asp1844Asn) c.5533G>A (p.Asp1845Asn) c.5572G>A (p.Asp1858Asn) c.5542G>A (p.Asp1848Asn) n.2364G>A c.5437G>A (p.Asp1813Asn) c.5500G>A (p.Asp1834Asn) c.5440G>A (p.Asp1814Asn) c.5638G>A (p.Asp1880Asn) c.5635G>A (p.Asp1879Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71669161G>C | CA347222899 | DYSF | c.3010G>C (p.Asp1004His) c.2227G>C (p.Asp743His) c.2335G>C (p.Asp779His) c.5479G>C (p.Asp1827His) c.5596G>C (p.Asp1866His) c.5482G>C (p.Asp1828His) c.5545G>C (p.Asp1849His) c.5593G>C (p.Asp1865His) c.5575G>C (p.Asp1859His) c.5503G>C (p.Asp1835His) c.5530G>C (p.Asp1844His) c.5533G>C (p.Asp1845His) c.5572G>C (p.Asp1858His) c.5542G>C (p.Asp1848His) n.2364G>C c.5437G>C (p.Asp1813His) c.5500G>C (p.Asp1834His) c.5440G>C (p.Asp1814His) c.5638G>C (p.Asp1880His) c.5635G>C (p.Asp1879His) | |
2 | g.71669161G= | CA1260152201 | DYSF | c.3010G= (p.Asp1004=) c.2227G= (p.Asp743=) c.2335G= (p.Asp779=) c.5479G= (p.Asp1827=) c.5596G= (p.Asp1866=) c.5482G= (p.Asp1828=) c.5545G= (p.Asp1849=) c.5593G= (p.Asp1865=) c.5575G= (p.Asp1859=) c.5503G= (p.Asp1835=) c.5530G= (p.Asp1844=) c.5533G= (p.Asp1845=) c.5572G= (p.Asp1858=) c.5542G= (p.Asp1848=) n.2364G= c.5437G= (p.Asp1813=) c.5500G= (p.Asp1834=) c.5440G= (p.Asp1814=) c.5638G= (p.Asp1880=) c.5635G= (p.Asp1879=) | |
2 | g.71669161G>T | CA347222901 | DYSF | c.3010G>T (p.Asp1004Tyr) c.2227G>T (p.Asp743Tyr) c.2335G>T (p.Asp779Tyr) c.5479G>T (p.Asp1827Tyr) c.5596G>T (p.Asp1866Tyr) c.5482G>T (p.Asp1828Tyr) c.5545G>T (p.Asp1849Tyr) c.5593G>T (p.Asp1865Tyr) c.5575G>T (p.Asp1859Tyr) c.5503G>T (p.Asp1835Tyr) c.5530G>T (p.Asp1844Tyr) c.5533G>T (p.Asp1845Tyr) c.5572G>T (p.Asp1858Tyr) c.5542G>T (p.Asp1848Tyr) n.2364G>T c.5437G>T (p.Asp1813Tyr) c.5500G>T (p.Asp1834Tyr) c.5440G>T (p.Asp1814Tyr) c.5638G>T (p.Asp1880Tyr) c.5635G>T (p.Asp1879Tyr) | |
2 | g.71669162A= | CA1260152202 | DYSF | c.3011A= (p.Asp1004=) c.2228A= (p.Asp743=) c.2336A= (p.Asp779=) c.5480A= (p.Asp1827=) c.5597A= (p.Asp1866=) c.5483A= (p.Asp1828=) c.5546A= (p.Asp1849=) c.5594A= (p.Asp1865=) c.5576A= (p.Asp1859=) c.5504A= (p.Asp1835=) c.5531A= (p.Asp1844=) c.5534A= (p.Asp1845=) c.5573A= (p.Asp1858=) c.5543A= (p.Asp1848=) n.2365A= c.5438A= (p.Asp1813=) c.5501A= (p.Asp1834=) c.5441A= (p.Asp1814=) c.5639A= (p.Asp1880=) c.5636A= (p.Asp1879=) | |
2 | g.71669162A>C | CA347222904 | DYSF | c.3011A>C (p.Asp1004Ala) c.2228A>C (p.Asp743Ala) c.2336A>C (p.Asp779Ala) c.5480A>C (p.Asp1827Ala) c.5597A>C (p.Asp1866Ala) c.5483A>C (p.Asp1828Ala) c.5546A>C (p.Asp1849Ala) c.5594A>C (p.Asp1865Ala) c.5576A>C (p.Asp1859Ala) c.5504A>C (p.Asp1835Ala) c.5531A>C (p.Asp1844Ala) c.5534A>C (p.Asp1845Ala) c.5573A>C (p.Asp1858Ala) c.5543A>C (p.Asp1848Ala) n.2365A>C c.5438A>C (p.Asp1813Ala) c.5501A>C (p.Asp1834Ala) c.5441A>C (p.Asp1814Ala) c.5639A>C (p.Asp1880Ala) c.5636A>C (p.Asp1879Ala) | |
2 | g.71669162A>G | CA347222906 | DYSF | c.3011A>G (p.Asp1004Gly) c.2228A>G (p.Asp743Gly) c.2336A>G (p.Asp779Gly) c.5480A>G (p.Asp1827Gly) c.5597A>G (p.Asp1866Gly) c.5483A>G (p.Asp1828Gly) c.5546A>G (p.Asp1849Gly) c.5594A>G (p.Asp1865Gly) c.5576A>G (p.Asp1859Gly) c.5504A>G (p.Asp1835Gly) c.5531A>G (p.Asp1844Gly) c.5534A>G (p.Asp1845Gly) c.5573A>G (p.Asp1858Gly) c.5543A>G (p.Asp1848Gly) n.2365A>G c.5438A>G (p.Asp1813Gly) c.5501A>G (p.Asp1834Gly) c.5441A>G (p.Asp1814Gly) c.5639A>G (p.Asp1880Gly) c.5636A>G (p.Asp1879Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71669162A>T | CA347222909 | DYSF | c.3011A>T (p.Asp1004Val) c.2228A>T (p.Asp743Val) c.2336A>T (p.Asp779Val) c.5480A>T (p.Asp1827Val) c.5597A>T (p.Asp1866Val) c.5483A>T (p.Asp1828Val) c.5546A>T (p.Asp1849Val) c.5594A>T (p.Asp1865Val) c.5576A>T (p.Asp1859Val) c.5504A>T (p.Asp1835Val) c.5531A>T (p.Asp1844Val) c.5534A>T (p.Asp1845Val) c.5573A>T (p.Asp1858Val) c.5543A>T (p.Asp1848Val) n.2365A>T c.5438A>T (p.Asp1813Val) c.5501A>T (p.Asp1834Val) c.5441A>T (p.Asp1814Val) c.5639A>T (p.Asp1880Val) c.5636A>T (p.Asp1879Val) | |
2 | g.71669163C>A | CA1707441 | DYSF | c.3012C>A (p.Asp1004Glu) c.2229C>A (p.Asp743Glu) c.2337C>A (p.Asp779Glu) c.5481C>A (p.Asp1827Glu) c.5598C>A (p.Asp1866Glu) c.5484C>A (p.Asp1828Glu) c.5547C>A (p.Asp1849Glu) c.5595C>A (p.Asp1865Glu) c.5577C>A (p.Asp1859Glu) c.5505C>A (p.Asp1835Glu) c.5532C>A (p.Asp1844Glu) c.5535C>A (p.Asp1845Glu) c.5574C>A (p.Asp1858Glu) c.5544C>A (p.Asp1848Glu) n.2366C>A c.5439C>A (p.Asp1813Glu) c.5502C>A (p.Asp1834Glu) c.5442C>A (p.Asp1814Glu) c.5640C>A (p.Asp1880Glu) c.5637C>A (p.Asp1879Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71669163C= | CA1260152203 | DYSF | c.3012C= (p.Asp1004=) c.2229C= (p.Asp743=) c.2337C= (p.Asp779=) c.5481C= (p.Asp1827=) c.5598C= (p.Asp1866=) c.5484C= (p.Asp1828=) c.5547C= (p.Asp1849=) c.5595C= (p.Asp1865=) c.5577C= (p.Asp1859=) c.5505C= (p.Asp1835=) c.5532C= (p.Asp1844=) c.5535C= (p.Asp1845=) c.5574C= (p.Asp1858=) c.5544C= (p.Asp1848=) n.2366C= c.5439C= (p.Asp1813=) c.5502C= (p.Asp1834=) c.5442C= (p.Asp1814=) c.5640C= (p.Asp1880=) c.5637C= (p.Asp1879=) | |
2 | g.71669163C>G | CA347222912 | DYSF | c.3012C>G (p.Asp1004Glu) c.2229C>G (p.Asp743Glu) c.2337C>G (p.Asp779Glu) c.5481C>G (p.Asp1827Glu) c.5598C>G (p.Asp1866Glu) c.5484C>G (p.Asp1828Glu) c.5547C>G (p.Asp1849Glu) c.5595C>G (p.Asp1865Glu) c.5577C>G (p.Asp1859Glu) c.5505C>G (p.Asp1835Glu) c.5532C>G (p.Asp1844Glu) c.5535C>G (p.Asp1845Glu) c.5574C>G (p.Asp1858Glu) c.5544C>G (p.Asp1848Glu) n.2366C>G c.5439C>G (p.Asp1813Glu) c.5502C>G (p.Asp1834Glu) c.5442C>G (p.Asp1814Glu) c.5640C>G (p.Asp1880Glu) c.5637C>G (p.Asp1879Glu) | |
2 | g.71669163C>T | CA426704426 | DYSF | c.3012C>T (p.Asp1004=) c.2229C>T (p.Asp743=) c.2337C>T (p.Asp779=) c.5481C>T (p.Asp1827=) c.5598C>T (p.Asp1866=) c.5484C>T (p.Asp1828=) c.5547C>T (p.Asp1849=) c.5595C>T (p.Asp1865=) c.5577C>T (p.Asp1859=) c.5505C>T (p.Asp1835=) c.5532C>T (p.Asp1844=) c.5535C>T (p.Asp1845=) c.5574C>T (p.Asp1858=) c.5544C>T (p.Asp1848=) n.2366C>T c.5439C>T (p.Asp1813=) c.5502C>T (p.Asp1834=) c.5442C>T (p.Asp1814=) c.5640C>T (p.Asp1880=) c.5637C>T (p.Asp1879=) | dbSNP gnomAD v4 |
2 | g.71669164C>A | CA347222914 | DYSF | c.3013C>A (p.Leu1005Met) c.2230C>A (p.Leu744Met) c.2338C>A (p.Leu780Met) c.5482C>A (p.Leu1828Met) c.5599C>A (p.Leu1867Met) c.5485C>A (p.Leu1829Met) c.5548C>A (p.Leu1850Met) c.5596C>A (p.Leu1866Met) c.5578C>A (p.Leu1860Met) c.5506C>A (p.Leu1836Met) c.5533C>A (p.Leu1845Met) c.5536C>A (p.Leu1846Met) c.5575C>A (p.Leu1859Met) c.5545C>A (p.Leu1849Met) n.2367C>A c.5440C>A (p.Leu1814Met) c.5503C>A (p.Leu1835Met) c.5443C>A (p.Leu1815Met) c.5641C>A (p.Leu1881Met) c.5638C>A (p.Leu1880Met) | |
2 | g.71669164C= | CA1260152204 | DYSF | c.3013C= (p.Leu1005=) c.2230C= (p.Leu744=) c.2338C= (p.Leu780=) c.5482C= (p.Leu1828=) c.5599C= (p.Leu1867=) c.5485C= (p.Leu1829=) c.5548C= (p.Leu1850=) c.5596C= (p.Leu1866=) c.5578C= (p.Leu1860=) c.5506C= (p.Leu1836=) c.5533C= (p.Leu1845=) c.5536C= (p.Leu1846=) c.5575C= (p.Leu1859=) c.5545C= (p.Leu1849=) n.2367C= c.5440C= (p.Leu1814=) c.5503C= (p.Leu1835=) c.5443C= (p.Leu1815=) c.5641C= (p.Leu1881=) c.5638C= (p.Leu1880=) | |
2 | g.71669164C>G | CA347222916 | DYSF | c.3013C>G (p.Leu1005Val) c.2230C>G (p.Leu744Val) c.2338C>G (p.Leu780Val) c.5482C>G (p.Leu1828Val) c.5599C>G (p.Leu1867Val) c.5485C>G (p.Leu1829Val) c.5548C>G (p.Leu1850Val) c.5596C>G (p.Leu1866Val) c.5578C>G (p.Leu1860Val) c.5506C>G (p.Leu1836Val) c.5533C>G (p.Leu1845Val) c.5536C>G (p.Leu1846Val) c.5575C>G (p.Leu1859Val) c.5545C>G (p.Leu1849Val) n.2367C>G c.5440C>G (p.Leu1814Val) c.5503C>G (p.Leu1835Val) c.5443C>G (p.Leu1815Val) c.5641C>G (p.Leu1881Val) c.5638C>G (p.Leu1880Val) | |
2 | g.71669164C>T | CA426704427 | DYSF | c.3013C>T (p.Leu1005=) c.2230C>T (p.Leu744=) c.2338C>T (p.Leu780=) c.5482C>T (p.Leu1828=) c.5599C>T (p.Leu1867=) c.5485C>T (p.Leu1829=) c.5548C>T (p.Leu1850=) c.5596C>T (p.Leu1866=) c.5578C>T (p.Leu1860=) c.5506C>T (p.Leu1836=) c.5533C>T (p.Leu1845=) c.5536C>T (p.Leu1846=) c.5575C>T (p.Leu1859=) c.5545C>T (p.Leu1849=) n.2367C>T c.5440C>T (p.Leu1814=) c.5503C>T (p.Leu1835=) c.5443C>T (p.Leu1815=) c.5641C>T (p.Leu1881=) c.5638C>T (p.Leu1880=) | dbSNP gnomAD v4 |
2 | g.71669165T>A | CA347222922 | DYSF | c.3014T>A (p.Leu1005Gln) c.2231T>A (p.Leu744Gln) c.2339T>A (p.Leu780Gln) c.5483T>A (p.Leu1828Gln) c.5600T>A (p.Leu1867Gln) c.5486T>A (p.Leu1829Gln) c.5549T>A (p.Leu1850Gln) c.5597T>A (p.Leu1866Gln) c.5579T>A (p.Leu1860Gln) c.5507T>A (p.Leu1836Gln) c.5534T>A (p.Leu1845Gln) c.5537T>A (p.Leu1846Gln) c.5576T>A (p.Leu1859Gln) c.5546T>A (p.Leu1849Gln) n.2368T>A c.5441T>A (p.Leu1814Gln) c.5504T>A (p.Leu1835Gln) c.5444T>A (p.Leu1815Gln) c.5642T>A (p.Leu1881Gln) c.5639T>A (p.Leu1880Gln) | |
2 | g.71669165T>C | CA347222919 | DYSF | c.3014T>C (p.Leu1005Pro) c.2231T>C (p.Leu744Pro) c.2339T>C (p.Leu780Pro) c.5483T>C (p.Leu1828Pro) c.5600T>C (p.Leu1867Pro) c.5486T>C (p.Leu1829Pro) c.5549T>C (p.Leu1850Pro) c.5597T>C (p.Leu1866Pro) c.5579T>C (p.Leu1860Pro) c.5507T>C (p.Leu1836Pro) c.5534T>C (p.Leu1845Pro) c.5537T>C (p.Leu1846Pro) c.5576T>C (p.Leu1859Pro) c.5546T>C (p.Leu1849Pro) n.2368T>C c.5441T>C (p.Leu1814Pro) c.5504T>C (p.Leu1835Pro) c.5444T>C (p.Leu1815Pro) c.5642T>C (p.Leu1881Pro) c.5639T>C (p.Leu1880Pro) | gnomAD v4 |
2 | g.71669165T>G | CA347222920 | DYSF | c.3014T>G (p.Leu1005Arg) c.2231T>G (p.Leu744Arg) c.2339T>G (p.Leu780Arg) c.5483T>G (p.Leu1828Arg) c.5600T>G (p.Leu1867Arg) c.5486T>G (p.Leu1829Arg) c.5549T>G (p.Leu1850Arg) c.5597T>G (p.Leu1866Arg) c.5579T>G (p.Leu1860Arg) c.5507T>G (p.Leu1836Arg) c.5534T>G (p.Leu1845Arg) c.5537T>G (p.Leu1846Arg) c.5576T>G (p.Leu1859Arg) c.5546T>G (p.Leu1849Arg) n.2368T>G c.5441T>G (p.Leu1814Arg) c.5504T>G (p.Leu1835Arg) c.5444T>G (p.Leu1815Arg) c.5642T>G (p.Leu1881Arg) c.5639T>G (p.Leu1880Arg) | |
2 | g.71669166G>A | CA426704428 | DYSF | c.3015G>A (p.Leu1005=) c.2232G>A (p.Leu744=) c.2340G>A (p.Leu780=) c.5484G>A (p.Leu1828=) c.5601G>A (p.Leu1867=) c.5487G>A (p.Leu1829=) c.5550G>A (p.Leu1850=) c.5598G>A (p.Leu1866=) c.5580G>A (p.Leu1860=) c.5508G>A (p.Leu1836=) c.5535G>A (p.Leu1845=) c.5538G>A (p.Leu1846=) c.5577G>A (p.Leu1859=) c.5547G>A (p.Leu1849=) n.2369G>A c.5442G>A (p.Leu1814=) c.5505G>A (p.Leu1835=) c.5445G>A (p.Leu1815=) c.5643G>A (p.Leu1881=) c.5640G>A (p.Leu1880=) | |
2 | g.71669166G>C | CA426704429 | DYSF | c.3015G>C (p.Leu1005=) c.2232G>C (p.Leu744=) c.2340G>C (p.Leu780=) c.5484G>C (p.Leu1828=) c.5601G>C (p.Leu1867=) c.5487G>C (p.Leu1829=) c.5550G>C (p.Leu1850=) c.5598G>C (p.Leu1866=) c.5580G>C (p.Leu1860=) c.5508G>C (p.Leu1836=) c.5535G>C (p.Leu1845=) c.5538G>C (p.Leu1846=) c.5577G>C (p.Leu1859=) c.5547G>C (p.Leu1849=) n.2369G>C c.5442G>C (p.Leu1814=) c.5505G>C (p.Leu1835=) c.5445G>C (p.Leu1815=) c.5643G>C (p.Leu1881=) c.5640G>C (p.Leu1880=) | ClinVar |
2 | g.71669166G>T | CA426704430 | DYSF | c.3015G>T (p.Leu1005=) c.2232G>T (p.Leu744=) c.2340G>T (p.Leu780=) c.5484G>T (p.Leu1828=) c.5601G>T (p.Leu1867=) c.5487G>T (p.Leu1829=) c.5550G>T (p.Leu1850=) c.5598G>T (p.Leu1866=) c.5580G>T (p.Leu1860=) c.5508G>T (p.Leu1836=) c.5535G>T (p.Leu1845=) c.5538G>T (p.Leu1846=) c.5577G>T (p.Leu1859=) c.5547G>T (p.Leu1849=) n.2369G>T c.5442G>T (p.Leu1814=) c.5505G>T (p.Leu1835=) c.5445G>T (p.Leu1815=) c.5643G>T (p.Leu1881=) c.5640G>T (p.Leu1880=) | |
2 | g.71669167A= | CA1260152205 | DYSF | c.3016A= (p.Ser1006=) c.2233A= (p.Ser745=) c.2341A= (p.Ser781=) c.5485A= (p.Ser1829=) c.5602A= (p.Ser1868=) c.5488A= (p.Ser1830=) c.5551A= (p.Ser1851=) c.5599A= (p.Ser1867=) c.5581A= (p.Ser1861=) c.5509A= (p.Ser1837=) c.5536A= (p.Ser1846=) c.5539A= (p.Ser1847=) c.5578A= (p.Ser1860=) c.5548A= (p.Ser1850=) n.2370A= c.5443A= (p.Ser1815=) c.5506A= (p.Ser1836=) c.5446A= (p.Ser1816=) c.5644A= (p.Ser1882=) c.5641A= (p.Ser1881=) | |
2 | g.71669167A>C | CA347222926 | DYSF | c.3016A>C (p.Ser1006Arg) c.2233A>C (p.Ser745Arg) c.2341A>C (p.Ser781Arg) c.5485A>C (p.Ser1829Arg) c.5602A>C (p.Ser1868Arg) c.5488A>C (p.Ser1830Arg) c.5551A>C (p.Ser1851Arg) c.5599A>C (p.Ser1867Arg) c.5581A>C (p.Ser1861Arg) c.5509A>C (p.Ser1837Arg) c.5536A>C (p.Ser1846Arg) c.5539A>C (p.Ser1847Arg) c.5578A>C (p.Ser1860Arg) c.5548A>C (p.Ser1850Arg) n.2370A>C c.5443A>C (p.Ser1815Arg) c.5506A>C (p.Ser1836Arg) c.5446A>C (p.Ser1816Arg) c.5644A>C (p.Ser1882Arg) c.5641A>C (p.Ser1881Arg) | |
2 | g.71669167A>G | CA1707442 | DYSF | c.3016A>G (p.Ser1006Gly) c.2233A>G (p.Ser745Gly) c.2341A>G (p.Ser781Gly) c.5485A>G (p.Ser1829Gly) c.5602A>G (p.Ser1868Gly) c.5488A>G (p.Ser1830Gly) c.5551A>G (p.Ser1851Gly) c.5599A>G (p.Ser1867Gly) c.5581A>G (p.Ser1861Gly) c.5509A>G (p.Ser1837Gly) c.5536A>G (p.Ser1846Gly) c.5539A>G (p.Ser1847Gly) c.5578A>G (p.Ser1860Gly) c.5548A>G (p.Ser1850Gly) n.2370A>G c.5443A>G (p.Ser1815Gly) c.5506A>G (p.Ser1836Gly) c.5446A>G (p.Ser1816Gly) c.5644A>G (p.Ser1882Gly) c.5641A>G (p.Ser1881Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71669167A>T | CA347222930 | DYSF | c.3016A>T (p.Ser1006Cys) c.2233A>T (p.Ser745Cys) c.2341A>T (p.Ser781Cys) c.5485A>T (p.Ser1829Cys) c.5602A>T (p.Ser1868Cys) c.5488A>T (p.Ser1830Cys) c.5551A>T (p.Ser1851Cys) c.5599A>T (p.Ser1867Cys) c.5581A>T (p.Ser1861Cys) c.5509A>T (p.Ser1837Cys) c.5536A>T (p.Ser1846Cys) c.5539A>T (p.Ser1847Cys) c.5578A>T (p.Ser1860Cys) c.5548A>T (p.Ser1850Cys) n.2370A>T c.5443A>T (p.Ser1815Cys) c.5506A>T (p.Ser1836Cys) c.5446A>T (p.Ser1816Cys) c.5644A>T (p.Ser1882Cys) c.5641A>T (p.Ser1881Cys) | |
2 | g.71669168G>A | CA1707443 | DYSF | c.3017G>A (p.Ser1006Asn) c.2234G>A (p.Ser745Asn) c.2342G>A (p.Ser781Asn) c.5486G>A (p.Ser1829Asn) c.5603G>A (p.Ser1868Asn) c.5489G>A (p.Ser1830Asn) c.5552G>A (p.Ser1851Asn) c.5600G>A (p.Ser1867Asn) c.5582G>A (p.Ser1861Asn) c.5510G>A (p.Ser1837Asn) c.5537G>A (p.Ser1846Asn) c.5540G>A (p.Ser1847Asn) c.5579G>A (p.Ser1860Asn) c.5549G>A (p.Ser1850Asn) n.2371G>A c.5444G>A (p.Ser1815Asn) c.5507G>A (p.Ser1836Asn) c.5447G>A (p.Ser1816Asn) c.5645G>A (p.Ser1882Asn) c.5642G>A (p.Ser1881Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71669168G>C | CA347222940 | DYSF | c.3017G>C (p.Ser1006Thr) c.2234G>C (p.Ser745Thr) c.2342G>C (p.Ser781Thr) c.5486G>C (p.Ser1829Thr) c.5603G>C (p.Ser1868Thr) c.5489G>C (p.Ser1830Thr) c.5552G>C (p.Ser1851Thr) c.5600G>C (p.Ser1867Thr) c.5582G>C (p.Ser1861Thr) c.5510G>C (p.Ser1837Thr) c.5537G>C (p.Ser1846Thr) c.5540G>C (p.Ser1847Thr) c.5579G>C (p.Ser1860Thr) c.5549G>C (p.Ser1850Thr) n.2371G>C c.5444G>C (p.Ser1815Thr) c.5507G>C (p.Ser1836Thr) c.5447G>C (p.Ser1816Thr) c.5645G>C (p.Ser1882Thr) c.5642G>C (p.Ser1881Thr) | |
2 | g.71669168G= | CA1260152206 | DYSF | c.3017G= (p.Ser1006=) c.2234G= (p.Ser745=) c.2342G= (p.Ser781=) c.5486G= (p.Ser1829=) c.5603G= (p.Ser1868=) c.5489G= (p.Ser1830=) c.5552G= (p.Ser1851=) c.5600G= (p.Ser1867=) c.5582G= (p.Ser1861=) c.5510G= (p.Ser1837=) c.5537G= (p.Ser1846=) c.5540G= (p.Ser1847=) c.5579G= (p.Ser1860=) c.5549G= (p.Ser1850=) n.2371G= c.5444G= (p.Ser1815=) c.5507G= (p.Ser1836=) c.5447G= (p.Ser1816=) c.5645G= (p.Ser1882=) c.5642G= (p.Ser1881=) | |
2 | g.71669168G>T | CA347222941 | DYSF | c.3017G>T (p.Ser1006Ile) c.2234G>T (p.Ser745Ile) c.2342G>T (p.Ser781Ile) c.5486G>T (p.Ser1829Ile) c.5603G>T (p.Ser1868Ile) c.5489G>T (p.Ser1830Ile) c.5552G>T (p.Ser1851Ile) c.5600G>T (p.Ser1867Ile) c.5582G>T (p.Ser1861Ile) c.5510G>T (p.Ser1837Ile) c.5537G>T (p.Ser1846Ile) c.5540G>T (p.Ser1847Ile) c.5579G>T (p.Ser1860Ile) c.5549G>T (p.Ser1850Ile) n.2371G>T c.5444G>T (p.Ser1815Ile) c.5507G>T (p.Ser1836Ile) c.5447G>T (p.Ser1816Ile) c.5645G>T (p.Ser1882Ile) c.5642G>T (p.Ser1881Ile) | |
2 | g.71669169C>A | CA347222944 | DYSF | c.3018C>A (p.Ser1006Arg) c.2235C>A (p.Ser745Arg) c.2343C>A (p.Ser781Arg) c.5487C>A (p.Ser1829Arg) c.5604C>A (p.Ser1868Arg) c.5490C>A (p.Ser1830Arg) c.5553C>A (p.Ser1851Arg) c.5601C>A (p.Ser1867Arg) c.5583C>A (p.Ser1861Arg) c.5511C>A (p.Ser1837Arg) c.5538C>A (p.Ser1846Arg) c.5541C>A (p.Ser1847Arg) c.5580C>A (p.Ser1860Arg) c.5550C>A (p.Ser1850Arg) n.2372C>A c.5445C>A (p.Ser1815Arg) c.5508C>A (p.Ser1836Arg) c.5448C>A (p.Ser1816Arg) c.5646C>A (p.Ser1882Arg) c.5643C>A (p.Ser1881Arg) | |
2 | g.71669169C= | CA1260152207 | DYSF | c.3018C= (p.Ser1006=) c.2235C= (p.Ser745=) c.2343C= (p.Ser781=) c.5487C= (p.Ser1829=) c.5604C= (p.Ser1868=) c.5490C= (p.Ser1830=) c.5553C= (p.Ser1851=) c.5601C= (p.Ser1867=) c.5583C= (p.Ser1861=) c.5511C= (p.Ser1837=) c.5538C= (p.Ser1846=) c.5541C= (p.Ser1847=) c.5580C= (p.Ser1860=) c.5550C= (p.Ser1850=) n.2372C= c.5445C= (p.Ser1815=) c.5508C= (p.Ser1836=) c.5448C= (p.Ser1816=) c.5646C= (p.Ser1882=) c.5643C= (p.Ser1881=) | |
2 | g.71669169C>G | CA347222947 | DYSF | c.3018C>G (p.Ser1006Arg) c.2235C>G (p.Ser745Arg) c.2343C>G (p.Ser781Arg) c.5487C>G (p.Ser1829Arg) c.5604C>G (p.Ser1868Arg) c.5490C>G (p.Ser1830Arg) c.5553C>G (p.Ser1851Arg) c.5601C>G (p.Ser1867Arg) c.5583C>G (p.Ser1861Arg) c.5511C>G (p.Ser1837Arg) c.5538C>G (p.Ser1846Arg) c.5541C>G (p.Ser1847Arg) c.5580C>G (p.Ser1860Arg) c.5550C>G (p.Ser1850Arg) n.2372C>G c.5445C>G (p.Ser1815Arg) c.5508C>G (p.Ser1836Arg) c.5448C>G (p.Ser1816Arg) c.5646C>G (p.Ser1882Arg) c.5643C>G (p.Ser1881Arg) | |
2 | g.71669169C>T | CA426704434 | DYSF | c.3018C>T (p.Ser1006=) c.2235C>T (p.Ser745=) c.2343C>T (p.Ser781=) c.5487C>T (p.Ser1829=) c.5604C>T (p.Ser1868=) c.5490C>T (p.Ser1830=) c.5553C>T (p.Ser1851=) c.5601C>T (p.Ser1867=) c.5583C>T (p.Ser1861=) c.5511C>T (p.Ser1837=) c.5538C>T (p.Ser1846=) c.5541C>T (p.Ser1847=) c.5580C>T (p.Ser1860=) c.5550C>T (p.Ser1850=) n.2372C>T c.5445C>T (p.Ser1815=) c.5508C>T (p.Ser1836=) c.5448C>T (p.Ser1816=) c.5646C>T (p.Ser1882=) c.5643C>T (p.Ser1881=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71669170C>A | CA347222949 | DYSF | c.3019C>A (p.Leu1007Ile) c.2236C>A (p.Leu746Ile) c.2344C>A (p.Leu782Ile) c.5488C>A (p.Leu1830Ile) c.5605C>A (p.Leu1869Ile) c.5491C>A (p.Leu1831Ile) c.5554C>A (p.Leu1852Ile) c.5602C>A (p.Leu1868Ile) c.5584C>A (p.Leu1862Ile) c.5512C>A (p.Leu1838Ile) c.5539C>A (p.Leu1847Ile) c.5542C>A (p.Leu1848Ile) c.5581C>A (p.Leu1861Ile) c.5551C>A (p.Leu1851Ile) n.2373C>A c.5446C>A (p.Leu1816Ile) c.5509C>A (p.Leu1837Ile) c.5449C>A (p.Leu1817Ile) c.5647C>A (p.Leu1883Ile) c.5644C>A (p.Leu1882Ile) | |
2 | g.71669170C= | CA1260152208 | DYSF | c.3019C= (p.Leu1007=) c.2236C= (p.Leu746=) c.2344C= (p.Leu782=) c.5488C= (p.Leu1830=) c.5605C= (p.Leu1869=) c.5491C= (p.Leu1831=) c.5554C= (p.Leu1852=) c.5602C= (p.Leu1868=) c.5584C= (p.Leu1862=) c.5512C= (p.Leu1838=) c.5539C= (p.Leu1847=) c.5542C= (p.Leu1848=) c.5581C= (p.Leu1861=) c.5551C= (p.Leu1851=) n.2373C= c.5446C= (p.Leu1816=) c.5509C= (p.Leu1837=) c.5449C= (p.Leu1817=) c.5647C= (p.Leu1883=) c.5644C= (p.Leu1882=) | |
2 | g.71669170C>G | CA347222951 | DYSF | c.3019C>G (p.Leu1007Val) c.2236C>G (p.Leu746Val) c.2344C>G (p.Leu782Val) c.5488C>G (p.Leu1830Val) c.5605C>G (p.Leu1869Val) c.5491C>G (p.Leu1831Val) c.5554C>G (p.Leu1852Val) c.5602C>G (p.Leu1868Val) c.5584C>G (p.Leu1862Val) c.5512C>G (p.Leu1838Val) c.5539C>G (p.Leu1847Val) c.5542C>G (p.Leu1848Val) c.5581C>G (p.Leu1861Val) c.5551C>G (p.Leu1851Val) n.2373C>G c.5446C>G (p.Leu1816Val) c.5509C>G (p.Leu1837Val) c.5449C>G (p.Leu1817Val) c.5647C>G (p.Leu1883Val) c.5644C>G (p.Leu1882Val) | |
2 | g.71669170C>T | CA347222953 | DYSF | c.3019C>T (p.Leu1007Phe) c.2236C>T (p.Leu746Phe) c.2344C>T (p.Leu782Phe) c.5488C>T (p.Leu1830Phe) c.5605C>T (p.Leu1869Phe) c.5491C>T (p.Leu1831Phe) c.5554C>T (p.Leu1852Phe) c.5602C>T (p.Leu1868Phe) c.5584C>T (p.Leu1862Phe) c.5512C>T (p.Leu1838Phe) c.5539C>T (p.Leu1847Phe) c.5542C>T (p.Leu1848Phe) c.5581C>T (p.Leu1861Phe) c.5551C>T (p.Leu1851Phe) n.2373C>T c.5446C>T (p.Leu1816Phe) c.5509C>T (p.Leu1837Phe) c.5449C>T (p.Leu1817Phe) c.5647C>T (p.Leu1883Phe) c.5644C>T (p.Leu1882Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71669171T>A | CA347222960 | DYSF | c.3020T>A (p.Leu1007His) c.2237T>A (p.Leu746His) c.2345T>A (p.Leu782His) c.5489T>A (p.Leu1830His) c.5606T>A (p.Leu1869His) c.5492T>A (p.Leu1831His) c.5555T>A (p.Leu1852His) c.5603T>A (p.Leu1868His) c.5585T>A (p.Leu1862His) c.5513T>A (p.Leu1838His) c.5540T>A (p.Leu1847His) c.5543T>A (p.Leu1848His) c.5582T>A (p.Leu1861His) c.5552T>A (p.Leu1851His) n.2374T>A c.5447T>A (p.Leu1816His) c.5510T>A (p.Leu1837His) c.5450T>A (p.Leu1817His) c.5648T>A (p.Leu1883His) c.5645T>A (p.Leu1882His) | |
2 | g.71669171T>C | CA347222959 | DYSF | c.3020T>C (p.Leu1007Pro) c.2237T>C (p.Leu746Pro) c.2345T>C (p.Leu782Pro) c.5489T>C (p.Leu1830Pro) c.5606T>C (p.Leu1869Pro) c.5492T>C (p.Leu1831Pro) c.5555T>C (p.Leu1852Pro) c.5603T>C (p.Leu1868Pro) c.5585T>C (p.Leu1862Pro) c.5513T>C (p.Leu1838Pro) c.5540T>C (p.Leu1847Pro) c.5543T>C (p.Leu1848Pro) c.5582T>C (p.Leu1861Pro) c.5552T>C (p.Leu1851Pro) n.2374T>C c.5447T>C (p.Leu1816Pro) c.5510T>C (p.Leu1837Pro) c.5450T>C (p.Leu1817Pro) c.5648T>C (p.Leu1883Pro) c.5645T>C (p.Leu1882Pro) | gnomAD v4 |
2 | g.71669171T>G | CA347222956 | DYSF | c.3020T>G (p.Leu1007Arg) c.2237T>G (p.Leu746Arg) c.2345T>G (p.Leu782Arg) c.5489T>G (p.Leu1830Arg) c.5606T>G (p.Leu1869Arg) c.5492T>G (p.Leu1831Arg) c.5555T>G (p.Leu1852Arg) c.5603T>G (p.Leu1868Arg) c.5585T>G (p.Leu1862Arg) c.5513T>G (p.Leu1838Arg) c.5540T>G (p.Leu1847Arg) c.5543T>G (p.Leu1848Arg) c.5582T>G (p.Leu1861Arg) c.5552T>G (p.Leu1851Arg) n.2374T>G c.5447T>G (p.Leu1816Arg) c.5510T>G (p.Leu1837Arg) c.5450T>G (p.Leu1817Arg) c.5648T>G (p.Leu1883Arg) c.5645T>G (p.Leu1882Arg) | |
2 | g.71669172C>A | CA426704437 | DYSF | c.3021C>A (p.Leu1007=) c.2238C>A (p.Leu746=) c.2346C>A (p.Leu782=) c.5490C>A (p.Leu1830=) c.5607C>A (p.Leu1869=) c.5493C>A (p.Leu1831=) c.5556C>A (p.Leu1852=) c.5604C>A (p.Leu1868=) c.5586C>A (p.Leu1862=) c.5514C>A (p.Leu1838=) c.5541C>A (p.Leu1847=) c.5544C>A (p.Leu1848=) c.5583C>A (p.Leu1861=) c.5553C>A (p.Leu1851=) n.2375C>A c.5448C>A (p.Leu1816=) c.5511C>A (p.Leu1837=) c.5451C>A (p.Leu1817=) c.5649C>A (p.Leu1883=) c.5646C>A (p.Leu1882=) | dbSNP COSMIC COSMIC |
2 | g.71669172C= | CA1260152209 | DYSF | c.3021C= (p.Leu1007=) c.2238C= (p.Leu746=) c.2346C= (p.Leu782=) c.5490C= (p.Leu1830=) c.5607C= (p.Leu1869=) c.5493C= (p.Leu1831=) c.5556C= (p.Leu1852=) c.5604C= (p.Leu1868=) c.5586C= (p.Leu1862=) c.5514C= (p.Leu1838=) c.5541C= (p.Leu1847=) c.5544C= (p.Leu1848=) c.5583C= (p.Leu1861=) c.5553C= (p.Leu1851=) n.2375C= c.5448C= (p.Leu1816=) c.5511C= (p.Leu1837=) c.5451C= (p.Leu1817=) c.5649C= (p.Leu1883=) c.5646C= (p.Leu1882=) | |
2 | g.71669172C>G | CA426704438 | DYSF | c.3021C>G (p.Leu1007=) c.2238C>G (p.Leu746=) c.2346C>G (p.Leu782=) c.5490C>G (p.Leu1830=) c.5607C>G (p.Leu1869=) c.5493C>G (p.Leu1831=) c.5556C>G (p.Leu1852=) c.5604C>G (p.Leu1868=) c.5586C>G (p.Leu1862=) c.5514C>G (p.Leu1838=) c.5541C>G (p.Leu1847=) c.5544C>G (p.Leu1848=) c.5583C>G (p.Leu1861=) c.5553C>G (p.Leu1851=) n.2375C>G c.5448C>G (p.Leu1816=) c.5511C>G (p.Leu1837=) c.5451C>G (p.Leu1817=) c.5649C>G (p.Leu1883=) c.5646C>G (p.Leu1882=) | |
2 | g.71669172C>T | CA426704439 | DYSF | c.3021C>T (p.Leu1007=) c.2238C>T (p.Leu746=) c.2346C>T (p.Leu782=) c.5490C>T (p.Leu1830=) c.5607C>T (p.Leu1869=) c.5493C>T (p.Leu1831=) c.5556C>T (p.Leu1852=) c.5604C>T (p.Leu1868=) c.5586C>T (p.Leu1862=) c.5514C>T (p.Leu1838=) c.5541C>T (p.Leu1847=) c.5544C>T (p.Leu1848=) c.5583C>T (p.Leu1861=) c.5553C>T (p.Leu1851=) n.2375C>T c.5448C>T (p.Leu1816=) c.5511C>T (p.Leu1837=) c.5451C>T (p.Leu1817=) c.5649C>T (p.Leu1883=) c.5646C>T (p.Leu1882=) | |
2 | g.71669173A= | CA1260152210 | DYSF | c.3022A= (p.Thr1008=) c.2239A= (p.Thr747=) c.2347A= (p.Thr783=) c.5491A= (p.Thr1831=) c.5608A= (p.Thr1870=) c.5494A= (p.Thr1832=) c.5557A= (p.Thr1853=) c.5605A= (p.Thr1869=) c.5587A= (p.Thr1863=) c.5515A= (p.Thr1839=) c.5542A= (p.Thr1848=) c.5545A= (p.Thr1849=) c.5584A= (p.Thr1862=) c.5554A= (p.Thr1852=) n.2376A= c.5449A= (p.Thr1817=) c.5512A= (p.Thr1838=) c.5452A= (p.Thr1818=) c.5650A= (p.Thr1884=) c.5647A= (p.Thr1883=) | |
2 | g.71669173A>C | CA347222965 | DYSF | c.3022A>C (p.Thr1008Pro) c.2239A>C (p.Thr747Pro) c.2347A>C (p.Thr783Pro) c.5491A>C (p.Thr1831Pro) c.5608A>C (p.Thr1870Pro) c.5494A>C (p.Thr1832Pro) c.5557A>C (p.Thr1853Pro) c.5605A>C (p.Thr1869Pro) c.5587A>C (p.Thr1863Pro) c.5515A>C (p.Thr1839Pro) c.5542A>C (p.Thr1848Pro) c.5545A>C (p.Thr1849Pro) c.5584A>C (p.Thr1862Pro) c.5554A>C (p.Thr1852Pro) n.2376A>C c.5449A>C (p.Thr1817Pro) c.5512A>C (p.Thr1838Pro) c.5452A>C (p.Thr1818Pro) c.5650A>C (p.Thr1884Pro) c.5647A>C (p.Thr1883Pro) | |
2 | g.71669173A>G | CA347222962 | DYSF | c.3022A>G (p.Thr1008Ala) c.2239A>G (p.Thr747Ala) c.2347A>G (p.Thr783Ala) c.5491A>G (p.Thr1831Ala) c.5608A>G (p.Thr1870Ala) c.5494A>G (p.Thr1832Ala) c.5557A>G (p.Thr1853Ala) c.5605A>G (p.Thr1869Ala) c.5587A>G (p.Thr1863Ala) c.5515A>G (p.Thr1839Ala) c.5542A>G (p.Thr1848Ala) c.5545A>G (p.Thr1849Ala) c.5584A>G (p.Thr1862Ala) c.5554A>G (p.Thr1852Ala) n.2376A>G c.5449A>G (p.Thr1817Ala) c.5512A>G (p.Thr1838Ala) c.5452A>G (p.Thr1818Ala) c.5650A>G (p.Thr1884Ala) c.5647A>G (p.Thr1883Ala) | gnomAD v4 |
2 | g.71669173A>T | CA1707444 | DYSF | c.3022A>T (p.Thr1008Ser) c.2239A>T (p.Thr747Ser) c.2347A>T (p.Thr783Ser) c.5491A>T (p.Thr1831Ser) c.5608A>T (p.Thr1870Ser) c.5494A>T (p.Thr1832Ser) c.5557A>T (p.Thr1853Ser) c.5605A>T (p.Thr1869Ser) c.5587A>T (p.Thr1863Ser) c.5515A>T (p.Thr1839Ser) c.5542A>T (p.Thr1848Ser) c.5545A>T (p.Thr1849Ser) c.5584A>T (p.Thr1862Ser) c.5554A>T (p.Thr1852Ser) n.2376A>T c.5449A>T (p.Thr1817Ser) c.5512A>T (p.Thr1838Ser) c.5452A>T (p.Thr1818Ser) c.5650A>T (p.Thr1884Ser) c.5647A>T (p.Thr1883Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71669174C>A | CA347222967 | DYSF | c.3023C>A (p.Thr1008Lys) c.2240C>A (p.Thr747Lys) c.2348C>A (p.Thr783Lys) c.5492C>A (p.Thr1831Lys) c.5609C>A (p.Thr1870Lys) c.5495C>A (p.Thr1832Lys) c.5558C>A (p.Thr1853Lys) c.5606C>A (p.Thr1869Lys) c.5588C>A (p.Thr1863Lys) c.5516C>A (p.Thr1839Lys) c.5543C>A (p.Thr1848Lys) c.5546C>A (p.Thr1849Lys) c.5585C>A (p.Thr1862Lys) c.5555C>A (p.Thr1852Lys) n.2377C>A c.5450C>A (p.Thr1817Lys) c.5513C>A (p.Thr1838Lys) c.5453C>A (p.Thr1818Lys) c.5651C>A (p.Thr1884Lys) c.5648C>A (p.Thr1883Lys) | dbSNP |
2 | g.71669174C= | CA1260152211 | DYSF | c.3023C= (p.Thr1008=) c.2240C= (p.Thr747=) c.2348C= (p.Thr783=) c.5492C= (p.Thr1831=) c.5609C= (p.Thr1870=) c.5495C= (p.Thr1832=) c.5558C= (p.Thr1853=) c.5606C= (p.Thr1869=) c.5588C= (p.Thr1863=) c.5516C= (p.Thr1839=) c.5543C= (p.Thr1848=) c.5546C= (p.Thr1849=) c.5585C= (p.Thr1862=) c.5555C= (p.Thr1852=) n.2377C= c.5450C= (p.Thr1817=) c.5513C= (p.Thr1838=) c.5453C= (p.Thr1818=) c.5651C= (p.Thr1884=) c.5648C= (p.Thr1883=) | |
2 | g.71669174C>G | CA347222970 | DYSF | c.3023C>G (p.Thr1008Arg) c.2240C>G (p.Thr747Arg) c.2348C>G (p.Thr783Arg) c.5492C>G (p.Thr1831Arg) c.5609C>G (p.Thr1870Arg) c.5495C>G (p.Thr1832Arg) c.5558C>G (p.Thr1853Arg) c.5606C>G (p.Thr1869Arg) c.5588C>G (p.Thr1863Arg) c.5516C>G (p.Thr1839Arg) c.5543C>G (p.Thr1848Arg) c.5546C>G (p.Thr1849Arg) c.5585C>G (p.Thr1862Arg) c.5555C>G (p.Thr1852Arg) n.2377C>G c.5450C>G (p.Thr1817Arg) c.5513C>G (p.Thr1838Arg) c.5453C>G (p.Thr1818Arg) c.5651C>G (p.Thr1884Arg) c.5648C>G (p.Thr1883Arg) | gnomAD v4 |
2 | g.71669174C>T | CA1707445 | DYSF | c.3023C>T (p.Thr1008Met) c.2240C>T (p.Thr747Met) c.2348C>T (p.Thr783Met) c.5492C>T (p.Thr1831Met) c.5609C>T (p.Thr1870Met) c.5495C>T (p.Thr1832Met) c.5558C>T (p.Thr1853Met) c.5606C>T (p.Thr1869Met) c.5588C>T (p.Thr1863Met) c.5516C>T (p.Thr1839Met) c.5543C>T (p.Thr1848Met) c.5546C>T (p.Thr1849Met) c.5585C>T (p.Thr1862Met) c.5555C>T (p.Thr1852Met) n.2377C>T c.5450C>T (p.Thr1817Met) c.5513C>T (p.Thr1838Met) c.5453C>T (p.Thr1818Met) c.5651C>T (p.Thr1884Met) c.5648C>T (p.Thr1883Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71669175G>A | CA1707446 | DYSF | c.3024G>A (p.Thr1008=) c.2241G>A (p.Thr747=) c.2349G>A (p.Thr783=) c.5493G>A (p.Thr1831=) c.5610G>A (p.Thr1870=) c.5496G>A (p.Thr1832=) c.5559G>A (p.Thr1853=) c.5607G>A (p.Thr1869=) c.5589G>A (p.Thr1863=) c.5517G>A (p.Thr1839=) c.5544G>A (p.Thr1848=) c.5547G>A (p.Thr1849=) c.5586G>A (p.Thr1862=) c.5556G>A (p.Thr1852=) n.2378G>A c.5451G>A (p.Thr1817=) c.5514G>A (p.Thr1838=) c.5454G>A (p.Thr1818=) c.5652G>A (p.Thr1884=) c.5649G>A (p.Thr1883=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.71669175G>C | CA426704440 | DYSF | c.3024G>C (p.Thr1008=) c.2241G>C (p.Thr747=) c.2349G>C (p.Thr783=) c.5493G>C (p.Thr1831=) c.5610G>C (p.Thr1870=) c.5496G>C (p.Thr1832=) c.5559G>C (p.Thr1853=) c.5607G>C (p.Thr1869=) c.5589G>C (p.Thr1863=) c.5517G>C (p.Thr1839=) c.5544G>C (p.Thr1848=) c.5547G>C (p.Thr1849=) c.5586G>C (p.Thr1862=) c.5556G>C (p.Thr1852=) n.2378G>C c.5451G>C (p.Thr1817=) c.5514G>C (p.Thr1838=) c.5454G>C (p.Thr1818=) c.5652G>C (p.Thr1884=) c.5649G>C (p.Thr1883=) | ClinVar dbSNP |
2 | g.71669175G= | CA1260152212 | DYSF | c.3024G= (p.Thr1008=) c.2241G= (p.Thr747=) c.2349G= (p.Thr783=) c.5493G= (p.Thr1831=) c.5610G= (p.Thr1870=) c.5496G= (p.Thr1832=) c.5559G= (p.Thr1853=) c.5607G= (p.Thr1869=) c.5589G= (p.Thr1863=) c.5517G= (p.Thr1839=) c.5544G= (p.Thr1848=) c.5547G= (p.Thr1849=) c.5586G= (p.Thr1862=) c.5556G= (p.Thr1852=) n.2378G= c.5451G= (p.Thr1817=) c.5514G= (p.Thr1838=) c.5454G= (p.Thr1818=) c.5652G= (p.Thr1884=) c.5649G= (p.Thr1883=) | |
2 | g.71669175G>T | CA426704441 | DYSF | c.3024G>T (p.Thr1008=) c.2241G>T (p.Thr747=) c.2349G>T (p.Thr783=) c.5493G>T (p.Thr1831=) c.5610G>T (p.Thr1870=) c.5496G>T (p.Thr1832=) c.5559G>T (p.Thr1853=) c.5607G>T (p.Thr1869=) c.5589G>T (p.Thr1863=) c.5517G>T (p.Thr1839=) c.5544G>T (p.Thr1848=) c.5547G>T (p.Thr1849=) c.5586G>T (p.Thr1862=) c.5556G>T (p.Thr1852=) n.2378G>T c.5451G>T (p.Thr1817=) c.5514G>T (p.Thr1838=) c.5454G>T (p.Thr1818=) c.5652G>T (p.Thr1884=) c.5649G>T (p.Thr1883=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71669179del | CA2586969526 | DYSF | c.3028del (p.Glu1010ArgfsTer3) c.2245del (p.Glu749ArgfsTer3) c.2353del (p.Glu785ArgfsTer3) c.5497del (p.Glu1833ArgfsTer3) c.5614del (p.Glu1872ArgfsTer3) c.5500del (p.Glu1834ArgfsTer3) c.5563del (p.Glu1855ArgfsTer3) c.5611del (p.Glu1871ArgfsTer3) c.5593del (p.Glu1865ArgfsTer3) c.5521del (p.Glu1841ArgfsTer3) c.5548del (p.Glu1850ArgfsTer3) c.5551del (p.Glu1851ArgfsTer3) c.5590del (p.Glu1864ArgfsTer3) c.5560del (p.Glu1854ArgfsTer3) n.2382del c.5455del (p.Glu1819ArgfsTer3) c.5518del (p.Glu1840ArgfsTer3) c.5458del (p.Glu1820ArgfsTer3) c.5656del (p.Glu1886ArgfsTer3) c.5653del (p.Glu1885ArgfsTer3) | gnomAD v4 |
2 | g.71669176G>A | CA347222985 | DYSF | c.3025G>A (p.Gly1009Arg) c.2242G>A (p.Gly748Arg) c.2350G>A (p.Gly784Arg) c.5494G>A (p.Gly1832Arg) c.5611G>A (p.Gly1871Arg) c.5497G>A (p.Gly1833Arg) c.5560G>A (p.Gly1854Arg) c.5608G>A (p.Gly1870Arg) c.5590G>A (p.Gly1864Arg) c.5518G>A (p.Gly1840Arg) c.5545G>A (p.Gly1849Arg) c.5548G>A (p.Gly1850Arg) c.5587G>A (p.Gly1863Arg) c.5557G>A (p.Gly1853Arg) n.2379G>A c.5452G>A (p.Gly1818Arg) c.5515G>A (p.Gly1839Arg) c.5455G>A (p.Gly1819Arg) c.5653G>A (p.Gly1885Arg) c.5650G>A (p.Gly1884Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.71669176G>C | CA347222987 | DYSF | c.3025G>C (p.Gly1009Arg) c.2242G>C (p.Gly748Arg) c.2350G>C (p.Gly784Arg) c.5494G>C (p.Gly1832Arg) c.5611G>C (p.Gly1871Arg) c.5497G>C (p.Gly1833Arg) c.5560G>C (p.Gly1854Arg) c.5608G>C (p.Gly1870Arg) c.5590G>C (p.Gly1864Arg) c.5518G>C (p.Gly1840Arg) c.5545G>C (p.Gly1849Arg) c.5548G>C (p.Gly1850Arg) c.5587G>C (p.Gly1863Arg) c.5557G>C (p.Gly1853Arg) n.2379G>C c.5452G>C (p.Gly1818Arg) c.5515G>C (p.Gly1839Arg) c.5455G>C (p.Gly1819Arg) c.5653G>C (p.Gly1885Arg) c.5650G>C (p.Gly1884Arg) | |
2 | g.71669176G>T | CA347222989 | DYSF | c.3025G>T (p.Gly1009Trp) c.2242G>T (p.Gly748Trp) c.2350G>T (p.Gly784Trp) c.5494G>T (p.Gly1832Trp) c.5611G>T (p.Gly1871Trp) c.5497G>T (p.Gly1833Trp) c.5560G>T (p.Gly1854Trp) c.5608G>T (p.Gly1870Trp) c.5590G>T (p.Gly1864Trp) c.5518G>T (p.Gly1840Trp) c.5545G>T (p.Gly1849Trp) c.5548G>T (p.Gly1850Trp) c.5587G>T (p.Gly1863Trp) c.5557G>T (p.Gly1853Trp) n.2379G>T c.5452G>T (p.Gly1818Trp) c.5515G>T (p.Gly1839Trp) c.5455G>T (p.Gly1819Trp) c.5653G>T (p.Gly1885Trp) c.5650G>T (p.Gly1884Trp) | |
2 | g.71669177G>A | CA1707447 | DYSF | c.3026G>A (p.Gly1009Glu) c.2243G>A (p.Gly748Glu) c.2351G>A (p.Gly784Glu) c.5495G>A (p.Gly1832Glu) c.5612G>A (p.Gly1871Glu) c.5498G>A (p.Gly1833Glu) c.5561G>A (p.Gly1854Glu) c.5609G>A (p.Gly1870Glu) c.5591G>A (p.Gly1864Glu) c.5519G>A (p.Gly1840Glu) c.5546G>A (p.Gly1849Glu) c.5549G>A (p.Gly1850Glu) c.5588G>A (p.Gly1863Glu) c.5558G>A (p.Gly1853Glu) n.2380G>A c.5453G>A (p.Gly1818Glu) c.5516G>A (p.Gly1839Glu) c.5456G>A (p.Gly1819Glu) c.5654G>A (p.Gly1885Glu) c.5651G>A (p.Gly1884Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71669177G>C | CA347222995 | DYSF | c.3026G>C (p.Gly1009Ala) c.2243G>C (p.Gly748Ala) c.2351G>C (p.Gly784Ala) c.5495G>C (p.Gly1832Ala) c.5612G>C (p.Gly1871Ala) c.5498G>C (p.Gly1833Ala) c.5561G>C (p.Gly1854Ala) c.5609G>C (p.Gly1870Ala) c.5591G>C (p.Gly1864Ala) c.5519G>C (p.Gly1840Ala) c.5546G>C (p.Gly1849Ala) c.5549G>C (p.Gly1850Ala) c.5588G>C (p.Gly1863Ala) c.5558G>C (p.Gly1853Ala) n.2380G>C c.5453G>C (p.Gly1818Ala) c.5516G>C (p.Gly1839Ala) c.5456G>C (p.Gly1819Ala) c.5654G>C (p.Gly1885Ala) c.5651G>C (p.Gly1884Ala) | |
2 | g.71669177G= | CA1260152213 | DYSF | c.3026G= (p.Gly1009=) c.2243G= (p.Gly748=) c.2351G= (p.Gly784=) c.5495G= (p.Gly1832=) c.5612G= (p.Gly1871=) c.5498G= (p.Gly1833=) c.5561G= (p.Gly1854=) c.5609G= (p.Gly1870=) c.5591G= (p.Gly1864=) c.5519G= (p.Gly1840=) c.5546G= (p.Gly1849=) c.5549G= (p.Gly1850=) c.5588G= (p.Gly1863=) c.5558G= (p.Gly1853=) n.2380G= c.5453G= (p.Gly1818=) c.5516G= (p.Gly1839=) c.5456G= (p.Gly1819=) c.5654G= (p.Gly1885=) c.5651G= (p.Gly1884=) | |
2 | g.71669177G>T | CA347222996 | DYSF | c.3026G>T (p.Gly1009Val) c.2243G>T (p.Gly748Val) c.2351G>T (p.Gly784Val) c.5495G>T (p.Gly1832Val) c.5612G>T (p.Gly1871Val) c.5498G>T (p.Gly1833Val) c.5561G>T (p.Gly1854Val) c.5609G>T (p.Gly1870Val) c.5591G>T (p.Gly1864Val) c.5519G>T (p.Gly1840Val) c.5546G>T (p.Gly1849Val) c.5549G>T (p.Gly1850Val) c.5588G>T (p.Gly1863Val) c.5558G>T (p.Gly1853Val) n.2380G>T c.5453G>T (p.Gly1818Val) c.5516G>T (p.Gly1839Val) c.5456G>T (p.Gly1819Val) c.5654G>T (p.Gly1885Val) c.5651G>T (p.Gly1884Val) | dbSNP |
2 | g.71669178G>A | CA426704443 | DYSF | c.3027G>A (p.Gly1009=) c.2244G>A (p.Gly748=) c.2352G>A (p.Gly784=) c.5496G>A (p.Gly1832=) c.5613G>A (p.Gly1871=) c.5499G>A (p.Gly1833=) c.5562G>A (p.Gly1854=) c.5610G>A (p.Gly1870=) c.5592G>A (p.Gly1864=) c.5520G>A (p.Gly1840=) c.5547G>A (p.Gly1849=) c.5550G>A (p.Gly1850=) c.5589G>A (p.Gly1863=) c.5559G>A (p.Gly1853=) n.2381G>A c.5454G>A (p.Gly1818=) c.5517G>A (p.Gly1839=) c.5457G>A (p.Gly1819=) c.5655G>A (p.Gly1885=) c.5652G>A (p.Gly1884=) | gnomAD v4 COSMIC COSMIC |
2 | g.71669178G>C | CA426704444 | DYSF | c.3027G>C (p.Gly1009=) c.2244G>C (p.Gly748=) c.2352G>C (p.Gly784=) c.5496G>C (p.Gly1832=) c.5613G>C (p.Gly1871=) c.5499G>C (p.Gly1833=) c.5562G>C (p.Gly1854=) c.5610G>C (p.Gly1870=) c.5592G>C (p.Gly1864=) c.5520G>C (p.Gly1840=) c.5547G>C (p.Gly1849=) c.5550G>C (p.Gly1850=) c.5589G>C (p.Gly1863=) c.5559G>C (p.Gly1853=) n.2381G>C c.5454G>C (p.Gly1818=) c.5517G>C (p.Gly1839=) c.5457G>C (p.Gly1819=) c.5655G>C (p.Gly1885=) c.5652G>C (p.Gly1884=) | |
2 | g.71669178G>T | CA426704445 | DYSF | c.3027G>T (p.Gly1009=) c.2244G>T (p.Gly748=) c.2352G>T (p.Gly784=) c.5496G>T (p.Gly1832=) c.5613G>T (p.Gly1871=) c.5499G>T (p.Gly1833=) c.5562G>T (p.Gly1854=) c.5610G>T (p.Gly1870=) c.5592G>T (p.Gly1864=) c.5520G>T (p.Gly1840=) c.5547G>T (p.Gly1849=) c.5550G>T (p.Gly1850=) c.5589G>T (p.Gly1863=) c.5559G>T (p.Gly1853=) n.2381G>T c.5454G>T (p.Gly1818=) c.5517G>T (p.Gly1839=) c.5457G>T (p.Gly1819=) c.5655G>T (p.Gly1885=) c.5652G>T (p.Gly1884=) | |
2 | g.71669179G>A | CA1707448 | DYSF | c.3028G>A (p.Glu1010Lys) c.2245G>A (p.Glu749Lys) c.2353G>A (p.Glu785Lys) c.5497G>A (p.Glu1833Lys) c.5614G>A (p.Glu1872Lys) c.5500G>A (p.Glu1834Lys) c.5563G>A (p.Glu1855Lys) c.5611G>A (p.Glu1871Lys) c.5593G>A (p.Glu1865Lys) c.5521G>A (p.Glu1841Lys) c.5548G>A (p.Glu1850Lys) c.5551G>A (p.Glu1851Lys) c.5590G>A (p.Glu1864Lys) c.5560G>A (p.Glu1854Lys) n.2382G>A c.5455G>A (p.Glu1819Lys) c.5518G>A (p.Glu1840Lys) c.5458G>A (p.Glu1820Lys) c.5656G>A (p.Glu1886Lys) c.5653G>A (p.Glu1885Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.71669179G>C | CA347223001 | DYSF | c.3028G>C (p.Glu1010Gln) c.2245G>C (p.Glu749Gln) c.2353G>C (p.Glu785Gln) c.5497G>C (p.Glu1833Gln) c.5614G>C (p.Glu1872Gln) c.5500G>C (p.Glu1834Gln) c.5563G>C (p.Glu1855Gln) c.5611G>C (p.Glu1871Gln) c.5593G>C (p.Glu1865Gln) c.5521G>C (p.Glu1841Gln) c.5548G>C (p.Glu1850Gln) c.5551G>C (p.Glu1851Gln) c.5590G>C (p.Glu1864Gln) c.5560G>C (p.Glu1854Gln) n.2382G>C c.5455G>C (p.Glu1819Gln) c.5518G>C (p.Glu1840Gln) c.5458G>C (p.Glu1820Gln) c.5656G>C (p.Glu1886Gln) c.5653G>C (p.Glu1885Gln) | dbSNP gnomAD v4 |
2 | g.71669179G= | CA1260152214 | DYSF | c.3028G= (p.Glu1010=) c.2245G= (p.Glu749=) c.2353G= (p.Glu785=) c.5497G= (p.Glu1833=) c.5614G= (p.Glu1872=) c.5500G= (p.Glu1834=) c.5563G= (p.Glu1855=) c.5611G= (p.Glu1871=) c.5593G= (p.Glu1865=) c.5521G= (p.Glu1841=) c.5548G= (p.Glu1850=) c.5551G= (p.Glu1851=) c.5590G= (p.Glu1864=) c.5560G= (p.Glu1854=) n.2382G= c.5455G= (p.Glu1819=) c.5518G= (p.Glu1840=) c.5458G= (p.Glu1820=) c.5656G= (p.Glu1886=) c.5653G= (p.Glu1885=) | |
2 | g.71669179G>T | CA222188 | DYSF | c.3028G>T (p.Glu1010Ter) c.2245G>T (p.Glu749Ter) c.2353G>T (p.Glu785Ter) c.5497G>T (p.Glu1833Ter) c.5614G>T (p.Glu1872Ter) c.5500G>T (p.Glu1834Ter) c.5563G>T (p.Glu1855Ter) c.5611G>T (p.Glu1871Ter) c.5593G>T (p.Glu1865Ter) c.5521G>T (p.Glu1841Ter) c.5548G>T (p.Glu1850Ter) c.5551G>T (p.Glu1851Ter) c.5590G>T (p.Glu1864Ter) c.5560G>T (p.Glu1854Ter) n.2382G>T c.5455G>T (p.Glu1819Ter) c.5518G>T (p.Glu1840Ter) c.5458G>T (p.Glu1820Ter) c.5656G>T (p.Glu1886Ter) c.5653G>T (p.Glu1885Ter) | ClinVar dbSNP |
2 | g.71669180A= | CA1260152215 | DYSF | c.3029A= (p.Glu1010=) c.2246A= (p.Glu749=) c.2354A= (p.Glu785=) c.5498A= (p.Glu1833=) c.5615A= (p.Glu1872=) c.5501A= (p.Glu1834=) c.5564A= (p.Glu1855=) c.5612A= (p.Glu1871=) c.5594A= (p.Glu1865=) c.5522A= (p.Glu1841=) c.5549A= (p.Glu1850=) c.5552A= (p.Glu1851=) c.5591A= (p.Glu1864=) c.5561A= (p.Glu1854=) n.2383A= c.5456A= (p.Glu1819=) c.5519A= (p.Glu1840=) c.5459A= (p.Glu1820=) c.5657A= (p.Glu1886=) c.5654A= (p.Glu1885=) | |
2 | g.71669180A>C | CA1707449 | DYSF | c.3029A>C (p.Glu1010Ala) c.2246A>C (p.Glu749Ala) c.2354A>C (p.Glu785Ala) c.5498A>C (p.Glu1833Ala) c.5615A>C (p.Glu1872Ala) c.5501A>C (p.Glu1834Ala) c.5564A>C (p.Glu1855Ala) c.5612A>C (p.Glu1871Ala) c.5594A>C (p.Glu1865Ala) c.5522A>C (p.Glu1841Ala) c.5549A>C (p.Glu1850Ala) c.5552A>C (p.Glu1851Ala) c.5591A>C (p.Glu1864Ala) c.5561A>C (p.Glu1854Ala) n.2383A>C c.5456A>C (p.Glu1819Ala) c.5519A>C (p.Glu1840Ala) c.5459A>C (p.Glu1820Ala) c.5657A>C (p.Glu1886Ala) c.5654A>C (p.Glu1885Ala) | dbSNP ExAC gnomAD v4 |
2 | g.71669180A>G | CA347223008 | DYSF | c.3029A>G (p.Glu1010Gly) c.2246A>G (p.Glu749Gly) c.2354A>G (p.Glu785Gly) c.5498A>G (p.Glu1833Gly) c.5615A>G (p.Glu1872Gly) c.5501A>G (p.Glu1834Gly) c.5564A>G (p.Glu1855Gly) c.5612A>G (p.Glu1871Gly) c.5594A>G (p.Glu1865Gly) c.5522A>G (p.Glu1841Gly) c.5549A>G (p.Glu1850Gly) c.5552A>G (p.Glu1851Gly) c.5591A>G (p.Glu1864Gly) c.5561A>G (p.Glu1854Gly) n.2383A>G c.5456A>G (p.Glu1819Gly) c.5519A>G (p.Glu1840Gly) c.5459A>G (p.Glu1820Gly) c.5657A>G (p.Glu1886Gly) c.5654A>G (p.Glu1885Gly) | |
2 | g.71669180A>T | CA347223011 | DYSF | c.3029A>T (p.Glu1010Val) c.2246A>T (p.Glu749Val) c.2354A>T (p.Glu785Val) c.5498A>T (p.Glu1833Val) c.5615A>T (p.Glu1872Val) c.5501A>T (p.Glu1834Val) c.5564A>T (p.Glu1855Val) c.5612A>T (p.Glu1871Val) c.5594A>T (p.Glu1865Val) c.5522A>T (p.Glu1841Val) c.5549A>T (p.Glu1850Val) c.5552A>T (p.Glu1851Val) c.5591A>T (p.Glu1864Val) c.5561A>T (p.Glu1854Val) n.2383A>T c.5456A>T (p.Glu1819Val) c.5519A>T (p.Glu1840Val) c.5459A>T (p.Glu1820Val) c.5657A>T (p.Glu1886Val) c.5654A>T (p.Glu1885Val) | |
2 | g.71669181G>A | CA426704450 | DYSF | c.3030G>A (p.Glu1010=) c.2247G>A (p.Glu749=) c.2355G>A (p.Glu785=) c.5499G>A (p.Glu1833=) c.5616G>A (p.Glu1872=) c.5502G>A (p.Glu1834=) c.5565G>A (p.Glu1855=) c.5613G>A (p.Glu1871=) c.5595G>A (p.Glu1865=) c.5523G>A (p.Glu1841=) c.5550G>A (p.Glu1850=) c.5553G>A (p.Glu1851=) c.5592G>A (p.Glu1864=) c.5562G>A (p.Glu1854=) n.2384G>A c.5457G>A (p.Glu1819=) c.5520G>A (p.Glu1840=) c.5460G>A (p.Glu1820=) c.5658G>A (p.Glu1886=) c.5655G>A (p.Glu1885=) | |
2 | g.71669181G>C | CA347223012 | DYSF | c.3030G>C (p.Glu1010Asp) c.2247G>C (p.Glu749Asp) c.2355G>C (p.Glu785Asp) c.5499G>C (p.Glu1833Asp) c.5616G>C (p.Glu1872Asp) c.5502G>C (p.Glu1834Asp) c.5565G>C (p.Glu1855Asp) c.5613G>C (p.Glu1871Asp) c.5595G>C (p.Glu1865Asp) c.5523G>C (p.Glu1841Asp) c.5550G>C (p.Glu1850Asp) c.5553G>C (p.Glu1851Asp) c.5592G>C (p.Glu1864Asp) c.5562G>C (p.Glu1854Asp) n.2384G>C c.5457G>C (p.Glu1819Asp) c.5520G>C (p.Glu1840Asp) c.5460G>C (p.Glu1820Asp) c.5658G>C (p.Glu1886Asp) c.5655G>C (p.Glu1885Asp) | dbSNP gnomAD v4 |
2 | g.71669181G= | CA1260152216 | DYSF | c.3030G= (p.Glu1010=) c.2247G= (p.Glu749=) c.2355G= (p.Glu785=) c.5499G= (p.Glu1833=) c.5616G= (p.Glu1872=) c.5502G= (p.Glu1834=) c.5565G= (p.Glu1855=) c.5613G= (p.Glu1871=) c.5595G= (p.Glu1865=) c.5523G= (p.Glu1841=) c.5550G= (p.Glu1850=) c.5553G= (p.Glu1851=) c.5592G= (p.Glu1864=) c.5562G= (p.Glu1854=) n.2384G= c.5457G= (p.Glu1819=) c.5520G= (p.Glu1840=) c.5460G= (p.Glu1820=) c.5658G= (p.Glu1886=) c.5655G= (p.Glu1885=) | |
2 | g.71669181G>T | CA347223014 | DYSF | c.3030G>T (p.Glu1010Asp) c.2247G>T (p.Glu749Asp) c.2355G>T (p.Glu785Asp) c.5499G>T (p.Glu1833Asp) c.5616G>T (p.Glu1872Asp) c.5502G>T (p.Glu1834Asp) c.5565G>T (p.Glu1855Asp) c.5613G>T (p.Glu1871Asp) c.5595G>T (p.Glu1865Asp) c.5523G>T (p.Glu1841Asp) c.5550G>T (p.Glu1850Asp) c.5553G>T (p.Glu1851Asp) c.5592G>T (p.Glu1864Asp) c.5562G>T (p.Glu1854Asp) n.2384G>T c.5457G>T (p.Glu1819Asp) c.5520G>T (p.Glu1840Asp) c.5460G>T (p.Glu1820Asp) c.5658G>T (p.Glu1886Asp) c.5655G>T (p.Glu1885Asp) | |
2 | g.71669182A= | CA1260152217 | DYSF | c.3031A= (p.Lys1011=) c.2248A= (p.Lys750=) c.2356A= (p.Lys786=) c.5500A= (p.Lys1834=) c.5617A= (p.Lys1873=) c.5503A= (p.Lys1835=) c.5566A= (p.Lys1856=) c.5614A= (p.Lys1872=) c.5596A= (p.Lys1866=) c.5524A= (p.Lys1842=) c.5551A= (p.Lys1851=) c.5554A= (p.Lys1852=) c.5593A= (p.Lys1865=) c.5563A= (p.Lys1855=) n.2385A= c.5458A= (p.Lys1820=) c.5521A= (p.Lys1841=) c.5461A= (p.Lys1821=) c.5659A= (p.Lys1887=) c.5656A= (p.Lys1886=) | |
2 | g.71669182A>C | CA347223017 | DYSF | c.3031A>C (p.Lys1011Gln) c.2248A>C (p.Lys750Gln) c.2356A>C (p.Lys786Gln) c.5500A>C (p.Lys1834Gln) c.5617A>C (p.Lys1873Gln) c.5503A>C (p.Lys1835Gln) c.5566A>C (p.Lys1856Gln) c.5614A>C (p.Lys1872Gln) c.5596A>C (p.Lys1866Gln) c.5524A>C (p.Lys1842Gln) c.5551A>C (p.Lys1851Gln) c.5554A>C (p.Lys1852Gln) c.5593A>C (p.Lys1865Gln) c.5563A>C (p.Lys1855Gln) n.2385A>C c.5458A>C (p.Lys1820Gln) c.5521A>C (p.Lys1841Gln) c.5461A>C (p.Lys1821Gln) c.5659A>C (p.Lys1887Gln) c.5656A>C (p.Lys1886Gln) | |
2 | g.71669182A>G | CA347223020 | DYSF | c.3031A>G (p.Lys1011Glu) c.2248A>G (p.Lys750Glu) c.2356A>G (p.Lys786Glu) c.5500A>G (p.Lys1834Glu) c.5617A>G (p.Lys1873Glu) c.5503A>G (p.Lys1835Glu) c.5566A>G (p.Lys1856Glu) c.5614A>G (p.Lys1872Glu) c.5596A>G (p.Lys1866Glu) c.5524A>G (p.Lys1842Glu) c.5551A>G (p.Lys1851Glu) c.5554A>G (p.Lys1852Glu) c.5593A>G (p.Lys1865Glu) c.5563A>G (p.Lys1855Glu) n.2385A>G c.5458A>G (p.Lys1820Glu) c.5521A>G (p.Lys1841Glu) c.5461A>G (p.Lys1821Glu) c.5659A>G (p.Lys1887Glu) c.5656A>G (p.Lys1886Glu) | |
2 | g.71669182A>T | CA347223021 | DYSF | c.3031A>T (p.Lys1011Ter) c.2248A>T (p.Lys750Ter) c.2356A>T (p.Lys786Ter) c.5500A>T (p.Lys1834Ter) c.5617A>T (p.Lys1873Ter) c.5503A>T (p.Lys1835Ter) c.5566A>T (p.Lys1856Ter) c.5614A>T (p.Lys1872Ter) c.5596A>T (p.Lys1866Ter) c.5524A>T (p.Lys1842Ter) c.5551A>T (p.Lys1851Ter) c.5554A>T (p.Lys1852Ter) c.5593A>T (p.Lys1865Ter) c.5563A>T (p.Lys1855Ter) n.2385A>T c.5458A>T (p.Lys1820Ter) c.5521A>T (p.Lys1841Ter) c.5461A>T (p.Lys1821Ter) c.5659A>T (p.Lys1887Ter) c.5656A>T (p.Lys1886Ter) | ClinVar dbSNP |
2 | g.71669183A>C | CA347223025 | DYSF | c.3032A>C (p.Lys1011Thr) c.2249A>C (p.Lys750Thr) c.2357A>C (p.Lys786Thr) c.5501A>C (p.Lys1834Thr) c.5618A>C (p.Lys1873Thr) c.5504A>C (p.Lys1835Thr) c.5567A>C (p.Lys1856Thr) c.5615A>C (p.Lys1872Thr) c.5597A>C (p.Lys1866Thr) c.5525A>C (p.Lys1842Thr) c.5552A>C (p.Lys1851Thr) c.5555A>C (p.Lys1852Thr) c.5594A>C (p.Lys1865Thr) c.5564A>C (p.Lys1855Thr) n.2386A>C c.5459A>C (p.Lys1820Thr) c.5522A>C (p.Lys1841Thr) c.5462A>C (p.Lys1821Thr) c.5660A>C (p.Lys1887Thr) c.5657A>C (p.Lys1886Thr) | |
2 | g.71669183A>G | CA347223027 | DYSF | c.3032A>G (p.Lys1011Arg) c.2249A>G (p.Lys750Arg) c.2357A>G (p.Lys786Arg) c.5501A>G (p.Lys1834Arg) c.5618A>G (p.Lys1873Arg) c.5504A>G (p.Lys1835Arg) c.5567A>G (p.Lys1856Arg) c.5615A>G (p.Lys1872Arg) c.5597A>G (p.Lys1866Arg) c.5525A>G (p.Lys1842Arg) c.5552A>G (p.Lys1851Arg) c.5555A>G (p.Lys1852Arg) c.5594A>G (p.Lys1865Arg) c.5564A>G (p.Lys1855Arg) n.2386A>G c.5459A>G (p.Lys1820Arg) c.5522A>G (p.Lys1841Arg) c.5462A>G (p.Lys1821Arg) c.5660A>G (p.Lys1887Arg) c.5657A>G (p.Lys1886Arg) | |
2 | g.71669183A>T | CA347223029 | DYSF | c.3032A>T (p.Lys1011Met) c.2249A>T (p.Lys750Met) c.2357A>T (p.Lys786Met) c.5501A>T (p.Lys1834Met) c.5618A>T (p.Lys1873Met) c.5504A>T (p.Lys1835Met) c.5567A>T (p.Lys1856Met) c.5615A>T (p.Lys1872Met) c.5597A>T (p.Lys1866Met) c.5525A>T (p.Lys1842Met) c.5552A>T (p.Lys1851Met) c.5555A>T (p.Lys1852Met) c.5594A>T (p.Lys1865Met) c.5564A>T (p.Lys1855Met) n.2386A>T c.5459A>T (p.Lys1820Met) c.5522A>T (p.Lys1841Met) c.5462A>T (p.Lys1821Met) c.5660A>T (p.Lys1887Met) c.5657A>T (p.Lys1886Met) | |
2 | g.71669184G>A | CA426704451 | DYSF | c.3033G>A (p.Lys1011=) c.2250G>A (p.Lys750=) c.2358G>A (p.Lys786=) c.5502G>A (p.Lys1834=) c.5619G>A (p.Lys1873=) c.5505G>A (p.Lys1835=) c.5568G>A (p.Lys1856=) c.5616G>A (p.Lys1872=) c.5598G>A (p.Lys1866=) c.5526G>A (p.Lys1842=) c.5553G>A (p.Lys1851=) c.5556G>A (p.Lys1852=) c.5595G>A (p.Lys1865=) c.5565G>A (p.Lys1855=) n.2387G>A c.5460G>A (p.Lys1820=) c.5523G>A (p.Lys1841=) c.5463G>A (p.Lys1821=) c.5661G>A (p.Lys1887=) c.5658G>A (p.Lys1886=) | dbSNP gnomAD v2 |
2 | g.71669184G>C | CA347223031 | DYSF | c.3033G>C (p.Lys1011Asn) c.2250G>C (p.Lys750Asn) c.2358G>C (p.Lys786Asn) c.5502G>C (p.Lys1834Asn) c.5619G>C (p.Lys1873Asn) c.5505G>C (p.Lys1835Asn) c.5568G>C (p.Lys1856Asn) c.5616G>C (p.Lys1872Asn) c.5598G>C (p.Lys1866Asn) c.5526G>C (p.Lys1842Asn) c.5553G>C (p.Lys1851Asn) c.5556G>C (p.Lys1852Asn) c.5595G>C (p.Lys1865Asn) c.5565G>C (p.Lys1855Asn) n.2387G>C c.5460G>C (p.Lys1820Asn) c.5523G>C (p.Lys1841Asn) c.5463G>C (p.Lys1821Asn) c.5661G>C (p.Lys1887Asn) c.5658G>C (p.Lys1886Asn) | gnomAD v4 |
2 | g.71669184G= | CA1260152218 | DYSF | c.3033G= (p.Lys1011=) c.2250G= (p.Lys750=) c.2358G= (p.Lys786=) c.5502G= (p.Lys1834=) c.5619G= (p.Lys1873=) c.5505G= (p.Lys1835=) c.5568G= (p.Lys1856=) c.5616G= (p.Lys1872=) c.5598G= (p.Lys1866=) c.5526G= (p.Lys1842=) c.5553G= (p.Lys1851=) c.5556G= (p.Lys1852=) c.5595G= (p.Lys1865=) c.5565G= (p.Lys1855=) n.2387G= c.5460G= (p.Lys1820=) c.5523G= (p.Lys1841=) c.5463G= (p.Lys1821=) c.5661G= (p.Lys1887=) c.5658G= (p.Lys1886=) | |
2 | g.71669184G>T | CA347223032 | DYSF | c.3033G>T (p.Lys1011Asn) c.2250G>T (p.Lys750Asn) c.2358G>T (p.Lys786Asn) c.5502G>T (p.Lys1834Asn) c.5619G>T (p.Lys1873Asn) c.5505G>T (p.Lys1835Asn) c.5568G>T (p.Lys1856Asn) c.5616G>T (p.Lys1872Asn) c.5598G>T (p.Lys1866Asn) c.5526G>T (p.Lys1842Asn) c.5553G>T (p.Lys1851Asn) c.5556G>T (p.Lys1852Asn) c.5595G>T (p.Lys1865Asn) c.5565G>T (p.Lys1855Asn) n.2387G>T c.5460G>T (p.Lys1820Asn) c.5523G>T (p.Lys1841Asn) c.5463G>T (p.Lys1821Asn) c.5661G>T (p.Lys1887Asn) c.5658G>T (p.Lys1886Asn) | |
2 | g.71669185A= | CA1260152219 | DYSF | c.3034A= (p.Met1012=) c.2251A= (p.Met751=) c.2359A= (p.Met787=) c.5503A= (p.Met1835=) c.5620A= (p.Met1874=) c.5506A= (p.Met1836=) c.5569A= (p.Met1857=) c.5617A= (p.Met1873=) c.5599A= (p.Met1867=) c.5527A= (p.Met1843=) c.5554A= (p.Met1852=) c.5557A= (p.Met1853=) c.5596A= (p.Met1866=) c.5566A= (p.Met1856=) n.2388A= c.5461A= (p.Met1821=) c.5524A= (p.Met1842=) c.5464A= (p.Met1822=) c.5662A= (p.Met1888=) c.5659A= (p.Met1887=) | |
2 | g.71669185A>C | CA347223038 | DYSF | c.3034A>C (p.Met1012Leu) c.2251A>C (p.Met751Leu) c.2359A>C (p.Met787Leu) c.5503A>C (p.Met1835Leu) c.5620A>C (p.Met1874Leu) c.5506A>C (p.Met1836Leu) c.5569A>C (p.Met1857Leu) c.5617A>C (p.Met1873Leu) c.5599A>C (p.Met1867Leu) c.5527A>C (p.Met1843Leu) c.5554A>C (p.Met1852Leu) c.5557A>C (p.Met1853Leu) c.5596A>C (p.Met1866Leu) c.5566A>C (p.Met1856Leu) n.2388A>C c.5461A>C (p.Met1821Leu) c.5524A>C (p.Met1842Leu) c.5464A>C (p.Met1822Leu) c.5662A>C (p.Met1888Leu) c.5659A>C (p.Met1887Leu) | |
2 | g.71669185A>G | CA347223040 | DYSF | c.3034A>G (p.Met1012Val) c.2251A>G (p.Met751Val) c.2359A>G (p.Met787Val) c.5503A>G (p.Met1835Val) c.5620A>G (p.Met1874Val) c.5506A>G (p.Met1836Val) c.5569A>G (p.Met1857Val) c.5617A>G (p.Met1873Val) c.5599A>G (p.Met1867Val) c.5527A>G (p.Met1843Val) c.5554A>G (p.Met1852Val) c.5557A>G (p.Met1853Val) c.5596A>G (p.Met1866Val) c.5566A>G (p.Met1856Val) n.2388A>G c.5461A>G (p.Met1821Val) c.5524A>G (p.Met1842Val) c.5464A>G (p.Met1822Val) c.5662A>G (p.Met1888Val) c.5659A>G (p.Met1887Val) | ClinVar dbSNP |
2 | g.71669185A>T | CA347223035 | DYSF | c.3034A>T (p.Met1012Leu) c.2251A>T (p.Met751Leu) c.2359A>T (p.Met787Leu) c.5503A>T (p.Met1835Leu) c.5620A>T (p.Met1874Leu) c.5506A>T (p.Met1836Leu) c.5569A>T (p.Met1857Leu) c.5617A>T (p.Met1873Leu) c.5599A>T (p.Met1867Leu) c.5527A>T (p.Met1843Leu) c.5554A>T (p.Met1852Leu) c.5557A>T (p.Met1853Leu) c.5596A>T (p.Met1866Leu) c.5566A>T (p.Met1856Leu) n.2388A>T c.5461A>T (p.Met1821Leu) c.5524A>T (p.Met1842Leu) c.5464A>T (p.Met1822Leu) c.5662A>T (p.Met1888Leu) c.5659A>T (p.Met1887Leu) | |
2 | g.71669186del | CA2580067838 | DYSF | c.3035del (p.Met1012ArgfsTer6) c.2252del (p.Met751ArgfsTer6) c.2360del (p.Met787ArgfsTer6) c.5504del (p.Met1835ArgfsTer6) c.5621del (p.Met1874ArgfsTer6) c.5507del (p.Met1836ArgfsTer6) c.5570del (p.Met1857ArgfsTer6) c.5618del (p.Met1873ArgfsTer6) c.5600del (p.Met1867ArgfsTer6) c.5528del (p.Met1843ArgfsTer6) c.5555del (p.Met1852ArgfsTer6) c.5558del (p.Met1853ArgfsTer6) c.5597del (p.Met1866ArgfsTer6) c.5567del (p.Met1856ArgfsTer6) n.2389del c.5462del (p.Met1821ArgfsTer6) c.5525del (p.Met1842ArgfsTer6) c.5465del (p.Met1822ArgfsTer6) c.5663del (p.Met1888ArgfsTer6) c.5660del (p.Met1887ArgfsTer6) | ClinVar dbSNP |
2 | g.71669186T>A | CA347223043 | DYSF | c.3035T>A (p.Met1012Lys) c.2252T>A (p.Met751Lys) c.2360T>A (p.Met787Lys) c.5504T>A (p.Met1835Lys) c.5621T>A (p.Met1874Lys) c.5507T>A (p.Met1836Lys) c.5570T>A (p.Met1857Lys) c.5618T>A (p.Met1873Lys) c.5600T>A (p.Met1867Lys) c.5528T>A (p.Met1843Lys) c.5555T>A (p.Met1852Lys) c.5558T>A (p.Met1853Lys) c.5597T>A (p.Met1866Lys) c.5567T>A (p.Met1856Lys) n.2389T>A c.5462T>A (p.Met1821Lys) c.5525T>A (p.Met1842Lys) c.5465T>A (p.Met1822Lys) c.5663T>A (p.Met1888Lys) c.5660T>A (p.Met1887Lys) | |
2 | g.71669186T>C | CA347223047 | DYSF | c.3035T>C (p.Met1012Thr) c.2252T>C (p.Met751Thr) c.2360T>C (p.Met787Thr) c.5504T>C (p.Met1835Thr) c.5621T>C (p.Met1874Thr) c.5507T>C (p.Met1836Thr) c.5570T>C (p.Met1857Thr) c.5618T>C (p.Met1873Thr) c.5600T>C (p.Met1867Thr) c.5528T>C (p.Met1843Thr) c.5555T>C (p.Met1852Thr) c.5558T>C (p.Met1853Thr) c.5597T>C (p.Met1866Thr) c.5567T>C (p.Met1856Thr) n.2389T>C c.5462T>C (p.Met1821Thr) c.5525T>C (p.Met1842Thr) c.5465T>C (p.Met1822Thr) c.5663T>C (p.Met1888Thr) c.5660T>C (p.Met1887Thr) | |
2 | g.71669186T>G | CA347223045 | DYSF | c.3035T>G (p.Met1012Arg) c.2252T>G (p.Met751Arg) c.2360T>G (p.Met787Arg) c.5504T>G (p.Met1835Arg) c.5621T>G (p.Met1874Arg) c.5507T>G (p.Met1836Arg) c.5570T>G (p.Met1857Arg) c.5618T>G (p.Met1873Arg) c.5600T>G (p.Met1867Arg) c.5528T>G (p.Met1843Arg) c.5555T>G (p.Met1852Arg) c.5558T>G (p.Met1853Arg) c.5597T>G (p.Met1866Arg) c.5567T>G (p.Met1856Arg) n.2389T>G c.5462T>G (p.Met1821Arg) c.5525T>G (p.Met1842Arg) c.5465T>G (p.Met1822Arg) c.5663T>G (p.Met1888Arg) c.5660T>G (p.Met1887Arg) | |
2 | g.71669187G>A | CA347223051 | DYSF | c.3036G>A (p.Met1012Ile) c.2253G>A (p.Met751Ile) c.2361G>A (p.Met787Ile) c.5505G>A (p.Met1835Ile) c.5622G>A (p.Met1874Ile) c.5508G>A (p.Met1836Ile) c.5571G>A (p.Met1857Ile) c.5619G>A (p.Met1873Ile) c.5601G>A (p.Met1867Ile) c.5529G>A (p.Met1843Ile) c.5556G>A (p.Met1852Ile) c.5559G>A (p.Met1853Ile) c.5598G>A (p.Met1866Ile) c.5568G>A (p.Met1856Ile) n.2390G>A c.5463G>A (p.Met1821Ile) c.5526G>A (p.Met1842Ile) c.5466G>A (p.Met1822Ile) c.5664G>A (p.Met1888Ile) c.5661G>A (p.Met1887Ile) | gnomAD v4 |
2 | g.71669187G>C | CA347223053 | DYSF | c.3036G>C (p.Met1012Ile) c.2253G>C (p.Met751Ile) c.2361G>C (p.Met787Ile) c.5505G>C (p.Met1835Ile) c.5622G>C (p.Met1874Ile) c.5508G>C (p.Met1836Ile) c.5571G>C (p.Met1857Ile) c.5619G>C (p.Met1873Ile) c.5601G>C (p.Met1867Ile) c.5529G>C (p.Met1843Ile) c.5556G>C (p.Met1852Ile) c.5559G>C (p.Met1853Ile) c.5598G>C (p.Met1866Ile) c.5568G>C (p.Met1856Ile) n.2390G>C c.5463G>C (p.Met1821Ile) c.5526G>C (p.Met1842Ile) c.5466G>C (p.Met1822Ile) c.5664G>C (p.Met1888Ile) c.5661G>C (p.Met1887Ile) | |
2 | g.71669187G>T | CA347223055 | DYSF | c.3036G>T (p.Met1012Ile) c.2253G>T (p.Met751Ile) c.2361G>T (p.Met787Ile) c.5505G>T (p.Met1835Ile) c.5622G>T (p.Met1874Ile) c.5508G>T (p.Met1836Ile) c.5571G>T (p.Met1857Ile) c.5619G>T (p.Met1873Ile) c.5601G>T (p.Met1867Ile) c.5529G>T (p.Met1843Ile) c.5556G>T (p.Met1852Ile) c.5559G>T (p.Met1853Ile) c.5598G>T (p.Met1866Ile) c.5568G>T (p.Met1856Ile) n.2390G>T c.5463G>T (p.Met1821Ile) c.5526G>T (p.Met1842Ile) c.5466G>T (p.Met1822Ile) c.5664G>T (p.Met1888Ile) c.5661G>T (p.Met1887Ile) | |
2 | g.71669188A>C | CA347223058 | DYSF | c.3037A>C (p.Ser1013Arg) c.2254A>C (p.Ser752Arg) c.2362A>C (p.Ser788Arg) c.5506A>C (p.Ser1836Arg) c.5623A>C (p.Ser1875Arg) c.5509A>C (p.Ser1837Arg) c.5572A>C (p.Ser1858Arg) c.5620A>C (p.Ser1874Arg) c.5602A>C (p.Ser1868Arg) c.5530A>C (p.Ser1844Arg) c.5557A>C (p.Ser1853Arg) c.5560A>C (p.Ser1854Arg) c.5599A>C (p.Ser1867Arg) c.5569A>C (p.Ser1857Arg) n.2391A>C c.5464A>C (p.Ser1822Arg) c.5527A>C (p.Ser1843Arg) c.5467A>C (p.Ser1823Arg) c.5665A>C (p.Ser1889Arg) c.5662A>C (p.Ser1888Arg) | |
2 | g.71669188A>G | CA347223059 | DYSF | c.3037A>G (p.Ser1013Gly) c.2254A>G (p.Ser752Gly) c.2362A>G (p.Ser788Gly) c.5506A>G (p.Ser1836Gly) c.5623A>G (p.Ser1875Gly) c.5509A>G (p.Ser1837Gly) c.5572A>G (p.Ser1858Gly) c.5620A>G (p.Ser1874Gly) c.5602A>G (p.Ser1868Gly) c.5530A>G (p.Ser1844Gly) c.5557A>G (p.Ser1853Gly) c.5560A>G (p.Ser1854Gly) c.5599A>G (p.Ser1867Gly) c.5569A>G (p.Ser1857Gly) n.2391A>G c.5464A>G (p.Ser1822Gly) c.5527A>G (p.Ser1843Gly) c.5467A>G (p.Ser1823Gly) c.5665A>G (p.Ser1889Gly) c.5662A>G (p.Ser1888Gly) | gnomAD v4 |
2 | g.71669188A>T | CA347223060 | DYSF | c.3037A>T (p.Ser1013Cys) c.2254A>T (p.Ser752Cys) c.2362A>T (p.Ser788Cys) c.5506A>T (p.Ser1836Cys) c.5623A>T (p.Ser1875Cys) c.5509A>T (p.Ser1837Cys) c.5572A>T (p.Ser1858Cys) c.5620A>T (p.Ser1874Cys) c.5602A>T (p.Ser1868Cys) c.5530A>T (p.Ser1844Cys) c.5557A>T (p.Ser1853Cys) c.5560A>T (p.Ser1854Cys) c.5599A>T (p.Ser1867Cys) c.5569A>T (p.Ser1857Cys) n.2391A>T c.5464A>T (p.Ser1822Cys) c.5527A>T (p.Ser1843Cys) c.5467A>T (p.Ser1823Cys) c.5665A>T (p.Ser1889Cys) c.5662A>T (p.Ser1888Cys) | |
2 | g.71669189G>A | CA347223063 | DYSF | c.3038G>A (p.Ser1013Asn) c.2255G>A (p.Ser752Asn) c.2363G>A (p.Ser788Asn) c.5507G>A (p.Ser1836Asn) c.5624G>A (p.Ser1875Asn) c.5510G>A (p.Ser1837Asn) c.5573G>A (p.Ser1858Asn) c.5621G>A (p.Ser1874Asn) c.5603G>A (p.Ser1868Asn) c.5531G>A (p.Ser1844Asn) c.5558G>A (p.Ser1853Asn) c.5561G>A (p.Ser1854Asn) c.5600G>A (p.Ser1867Asn) c.5570G>A (p.Ser1857Asn) n.2392G>A c.5465G>A (p.Ser1822Asn) c.5528G>A (p.Ser1843Asn) c.5468G>A (p.Ser1823Asn) c.5666G>A (p.Ser1889Asn) c.5663G>A (p.Ser1888Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71669189G>C | CA347223065 | DYSF | c.3038G>C (p.Ser1013Thr) c.2255G>C (p.Ser752Thr) c.2363G>C (p.Ser788Thr) c.5507G>C (p.Ser1836Thr) c.5624G>C (p.Ser1875Thr) c.5510G>C (p.Ser1837Thr) c.5573G>C (p.Ser1858Thr) c.5621G>C (p.Ser1874Thr) c.5603G>C (p.Ser1868Thr) c.5531G>C (p.Ser1844Thr) c.5558G>C (p.Ser1853Thr) c.5561G>C (p.Ser1854Thr) c.5600G>C (p.Ser1867Thr) c.5570G>C (p.Ser1857Thr) n.2392G>C c.5465G>C (p.Ser1822Thr) c.5528G>C (p.Ser1843Thr) c.5468G>C (p.Ser1823Thr) c.5666G>C (p.Ser1889Thr) c.5663G>C (p.Ser1888Thr) | |
2 | g.71669189G= | CA1260152220 | DYSF | c.3038G= (p.Ser1013=) c.2255G= (p.Ser752=) c.2363G= (p.Ser788=) c.5507G= (p.Ser1836=) c.5624G= (p.Ser1875=) c.5510G= (p.Ser1837=) c.5573G= (p.Ser1858=) c.5621G= (p.Ser1874=) c.5603G= (p.Ser1868=) c.5531G= (p.Ser1844=) c.5558G= (p.Ser1853=) c.5561G= (p.Ser1854=) c.5600G= (p.Ser1867=) c.5570G= (p.Ser1857=) n.2392G= c.5465G= (p.Ser1822=) c.5528G= (p.Ser1843=) c.5468G= (p.Ser1823=) c.5666G= (p.Ser1889=) c.5663G= (p.Ser1888=) | |
2 | g.71669189G>T | CA347223067 | DYSF | c.3038G>T (p.Ser1013Ile) c.2255G>T (p.Ser752Ile) c.2363G>T (p.Ser788Ile) c.5507G>T (p.Ser1836Ile) c.5624G>T (p.Ser1875Ile) c.5510G>T (p.Ser1837Ile) c.5573G>T (p.Ser1858Ile) c.5621G>T (p.Ser1874Ile) c.5603G>T (p.Ser1868Ile) c.5531G>T (p.Ser1844Ile) c.5558G>T (p.Ser1853Ile) c.5561G>T (p.Ser1854Ile) c.5600G>T (p.Ser1867Ile) c.5570G>T (p.Ser1857Ile) n.2392G>T c.5465G>T (p.Ser1822Ile) c.5528G>T (p.Ser1843Ile) c.5468G>T (p.Ser1823Ile) c.5666G>T (p.Ser1889Ile) c.5663G>T (p.Ser1888Ile) | |
2 | g.71669190C>A | CA347223070 | DYSF | c.3039C>A (p.Ser1013Arg) c.2256C>A (p.Ser752Arg) c.2364C>A (p.Ser788Arg) c.5508C>A (p.Ser1836Arg) c.5625C>A (p.Ser1875Arg) c.5511C>A (p.Ser1837Arg) c.5574C>A (p.Ser1858Arg) c.5622C>A (p.Ser1874Arg) c.5604C>A (p.Ser1868Arg) c.5532C>A (p.Ser1844Arg) c.5559C>A (p.Ser1853Arg) c.5562C>A (p.Ser1854Arg) c.5601C>A (p.Ser1867Arg) c.5571C>A (p.Ser1857Arg) n.2393C>A c.5466C>A (p.Ser1822Arg) c.5529C>A (p.Ser1843Arg) c.5469C>A (p.Ser1823Arg) c.5667C>A (p.Ser1889Arg) c.5664C>A (p.Ser1888Arg) | |
2 | g.71669190C= | CA1260152221 | DYSF | c.3039C= (p.Ser1013=) c.2256C= (p.Ser752=) c.2364C= (p.Ser788=) c.5508C= (p.Ser1836=) c.5625C= (p.Ser1875=) c.5511C= (p.Ser1837=) c.5574C= (p.Ser1858=) c.5622C= (p.Ser1874=) c.5604C= (p.Ser1868=) c.5532C= (p.Ser1844=) c.5559C= (p.Ser1853=) c.5562C= (p.Ser1854=) c.5601C= (p.Ser1867=) c.5571C= (p.Ser1857=) n.2393C= c.5466C= (p.Ser1822=) c.5529C= (p.Ser1843=) c.5469C= (p.Ser1823=) c.5667C= (p.Ser1889=) c.5664C= (p.Ser1888=) | |
2 | g.71669190C>G | CA347223072 | DYSF | c.3039C>G (p.Ser1013Arg) c.2256C>G (p.Ser752Arg) c.2364C>G (p.Ser788Arg) c.5508C>G (p.Ser1836Arg) c.5625C>G (p.Ser1875Arg) c.5511C>G (p.Ser1837Arg) c.5574C>G (p.Ser1858Arg) c.5622C>G (p.Ser1874Arg) c.5604C>G (p.Ser1868Arg) c.5532C>G (p.Ser1844Arg) c.5559C>G (p.Ser1853Arg) c.5562C>G (p.Ser1854Arg) c.5601C>G (p.Ser1867Arg) c.5571C>G (p.Ser1857Arg) n.2393C>G c.5466C>G (p.Ser1822Arg) c.5529C>G (p.Ser1843Arg) c.5469C>G (p.Ser1823Arg) c.5667C>G (p.Ser1889Arg) c.5664C>G (p.Ser1888Arg) | |
2 | g.71669190C>T | CA1707450 | DYSF | c.3039C>T (p.Ser1013=) c.2256C>T (p.Ser752=) c.2364C>T (p.Ser788=) c.5508C>T (p.Ser1836=) c.5625C>T (p.Ser1875=) c.5511C>T (p.Ser1837=) c.5574C>T (p.Ser1858=) c.5622C>T (p.Ser1874=) c.5604C>T (p.Ser1868=) c.5532C>T (p.Ser1844=) c.5559C>T (p.Ser1853=) c.5562C>T (p.Ser1854=) c.5601C>T (p.Ser1867=) c.5571C>T (p.Ser1857=) n.2393C>T c.5466C>T (p.Ser1822=) c.5529C>T (p.Ser1843=) c.5469C>T (p.Ser1823=) c.5667C>T (p.Ser1889=) c.5664C>T (p.Ser1888=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71669191G>A | CA222190 | DYSF | c.3040G>A (p.Asp1014Asn) c.2257G>A (p.Asp753Asn) c.2365G>A (p.Asp789Asn) c.5509G>A (p.Asp1837Asn) c.5626G>A (p.Asp1876Asn) c.5512G>A (p.Asp1838Asn) c.5575G>A (p.Asp1859Asn) c.5623G>A (p.Asp1875Asn) c.5605G>A (p.Asp1869Asn) c.5533G>A (p.Asp1845Asn) c.5560G>A (p.Asp1854Asn) c.5563G>A (p.Asp1855Asn) c.5602G>A (p.Asp1868Asn) c.5572G>A (p.Asp1858Asn) n.2394G>A c.5467G>A (p.Asp1823Asn) c.5530G>A (p.Asp1844Asn) c.5470G>A (p.Asp1824Asn) c.5668G>A (p.Asp1890Asn) c.5665G>A (p.Asp1889Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71669191G>C | CA347223076 | DYSF | c.3040G>C (p.Asp1014His) c.2257G>C (p.Asp753His) c.2365G>C (p.Asp789His) c.5509G>C (p.Asp1837His) c.5626G>C (p.Asp1876His) c.5512G>C (p.Asp1838His) c.5575G>C (p.Asp1859His) c.5623G>C (p.Asp1875His) c.5605G>C (p.Asp1869His) c.5533G>C (p.Asp1845His) c.5560G>C (p.Asp1854His) c.5563G>C (p.Asp1855His) c.5602G>C (p.Asp1868His) c.5572G>C (p.Asp1858His) n.2394G>C c.5467G>C (p.Asp1823His) c.5530G>C (p.Asp1844His) c.5470G>C (p.Asp1824His) c.5668G>C (p.Asp1890His) c.5665G>C (p.Asp1889His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.71669191G= | CA1260152222 | DYSF | c.3040G= (p.Asp1014=) c.2257G= (p.Asp753=) c.2365G= (p.Asp789=) c.5509G= (p.Asp1837=) c.5626G= (p.Asp1876=) c.5512G= (p.Asp1838=) c.5575G= (p.Asp1859=) c.5623G= (p.Asp1875=) c.5605G= (p.Asp1869=) c.5533G= (p.Asp1845=) c.5560G= (p.Asp1854=) c.5563G= (p.Asp1855=) c.5602G= (p.Asp1868=) c.5572G= (p.Asp1858=) n.2394G= c.5467G= (p.Asp1823=) c.5530G= (p.Asp1844=) c.5470G= (p.Asp1824=) c.5668G= (p.Asp1890=) c.5665G= (p.Asp1889=) | |
2 | g.71669191G>T | CA347223079 | DYSF | c.3040G>T (p.Asp1014Tyr) c.2257G>T (p.Asp753Tyr) c.2365G>T (p.Asp789Tyr) c.5509G>T (p.Asp1837Tyr) c.5626G>T (p.Asp1876Tyr) c.5512G>T (p.Asp1838Tyr) c.5575G>T (p.Asp1859Tyr) c.5623G>T (p.Asp1875Tyr) c.5605G>T (p.Asp1869Tyr) c.5533G>T (p.Asp1845Tyr) c.5560G>T (p.Asp1854Tyr) c.5563G>T (p.Asp1855Tyr) c.5602G>T (p.Asp1868Tyr) c.5572G>T (p.Asp1858Tyr) n.2394G>T c.5467G>T (p.Asp1823Tyr) c.5530G>T (p.Asp1844Tyr) c.5470G>T (p.Asp1824Tyr) c.5668G>T (p.Asp1890Tyr) c.5665G>T (p.Asp1889Tyr) | |
2 | g.71669192A>C | CA347223082 | DYSF | c.3041A>C (p.Asp1014Ala) c.2258A>C (p.Asp753Ala) c.2366A>C (p.Asp789Ala) c.5510A>C (p.Asp1837Ala) c.5627A>C (p.Asp1876Ala) c.5513A>C (p.Asp1838Ala) c.5576A>C (p.Asp1859Ala) c.5624A>C (p.Asp1875Ala) c.5606A>C (p.Asp1869Ala) c.5534A>C (p.Asp1845Ala) c.5561A>C (p.Asp1854Ala) c.5564A>C (p.Asp1855Ala) c.5603A>C (p.Asp1868Ala) c.5573A>C (p.Asp1858Ala) n.2395A>C c.5468A>C (p.Asp1823Ala) c.5531A>C (p.Asp1844Ala) c.5471A>C (p.Asp1824Ala) c.5669A>C (p.Asp1890Ala) c.5666A>C (p.Asp1889Ala) | |
2 | g.71669192A>G | CA347223084 | DYSF | c.3041A>G (p.Asp1014Gly) c.2258A>G (p.Asp753Gly) c.2366A>G (p.Asp789Gly) c.5510A>G (p.Asp1837Gly) c.5627A>G (p.Asp1876Gly) c.5513A>G (p.Asp1838Gly) c.5576A>G (p.Asp1859Gly) c.5624A>G (p.Asp1875Gly) c.5606A>G (p.Asp1869Gly) c.5534A>G (p.Asp1845Gly) c.5561A>G (p.Asp1854Gly) c.5564A>G (p.Asp1855Gly) c.5603A>G (p.Asp1868Gly) c.5573A>G (p.Asp1858Gly) n.2395A>G c.5468A>G (p.Asp1823Gly) c.5531A>G (p.Asp1844Gly) c.5471A>G (p.Asp1824Gly) c.5669A>G (p.Asp1890Gly) c.5666A>G (p.Asp1889Gly) | gnomAD v4 |
2 | g.71669192A>T | CA347223092 | DYSF | c.3041A>T (p.Asp1014Val) c.2258A>T (p.Asp753Val) c.2366A>T (p.Asp789Val) c.5510A>T (p.Asp1837Val) c.5627A>T (p.Asp1876Val) c.5513A>T (p.Asp1838Val) c.5576A>T (p.Asp1859Val) c.5624A>T (p.Asp1875Val) c.5606A>T (p.Asp1869Val) c.5534A>T (p.Asp1845Val) c.5561A>T (p.Asp1854Val) c.5564A>T (p.Asp1855Val) c.5603A>T (p.Asp1868Val) c.5573A>T (p.Asp1858Val) n.2395A>T c.5468A>T (p.Asp1823Val) c.5531A>T (p.Asp1844Val) c.5471A>T (p.Asp1824Val) c.5669A>T (p.Asp1890Val) c.5666A>T (p.Asp1889Val) | |
2 | g.71669193C>A | CA347223095 | DYSF | c.3042C>A (p.Asp1014Glu) c.2259C>A (p.Asp753Glu) c.2367C>A (p.Asp789Glu) c.5511C>A (p.Asp1837Glu) c.5628C>A (p.Asp1876Glu) c.5514C>A (p.Asp1838Glu) c.5577C>A (p.Asp1859Glu) c.5625C>A (p.Asp1875Glu) c.5607C>A (p.Asp1869Glu) c.5535C>A (p.Asp1845Glu) c.5562C>A (p.Asp1854Glu) c.5565C>A (p.Asp1855Glu) c.5604C>A (p.Asp1868Glu) c.5574C>A (p.Asp1858Glu) n.2396C>A c.5469C>A (p.Asp1823Glu) c.5532C>A (p.Asp1844Glu) c.5472C>A (p.Asp1824Glu) c.5670C>A (p.Asp1890Glu) c.5667C>A (p.Asp1889Glu) | |
2 | g.71669193C= | CA1260152223 | DYSF | c.3042C= (p.Asp1014=) c.2259C= (p.Asp753=) c.2367C= (p.Asp789=) c.5511C= (p.Asp1837=) c.5628C= (p.Asp1876=) c.5514C= (p.Asp1838=) c.5577C= (p.Asp1859=) c.5625C= (p.Asp1875=) c.5607C= (p.Asp1869=) c.5535C= (p.Asp1845=) c.5562C= (p.Asp1854=) c.5565C= (p.Asp1855=) c.5604C= (p.Asp1868=) c.5574C= (p.Asp1858=) n.2396C= c.5469C= (p.Asp1823=) c.5532C= (p.Asp1844=) c.5472C= (p.Asp1824=) c.5670C= (p.Asp1890=) c.5667C= (p.Asp1889=) | |
2 | g.71669193C>G | CA347223096 | DYSF | c.3042C>G (p.Asp1014Glu) c.2259C>G (p.Asp753Glu) c.2367C>G (p.Asp789Glu) c.5511C>G (p.Asp1837Glu) c.5628C>G (p.Asp1876Glu) c.5514C>G (p.Asp1838Glu) c.5577C>G (p.Asp1859Glu) c.5625C>G (p.Asp1875Glu) c.5607C>G (p.Asp1869Glu) c.5535C>G (p.Asp1845Glu) c.5562C>G (p.Asp1854Glu) c.5565C>G (p.Asp1855Glu) c.5604C>G (p.Asp1868Glu) c.5574C>G (p.Asp1858Glu) n.2396C>G c.5469C>G (p.Asp1823Glu) c.5532C>G (p.Asp1844Glu) c.5472C>G (p.Asp1824Glu) c.5670C>G (p.Asp1890Glu) c.5667C>G (p.Asp1889Glu) | |
2 | g.71669193C>T | CA426704456 | DYSF | c.3042C>T (p.Asp1014=) c.2259C>T (p.Asp753=) c.2367C>T (p.Asp789=) c.5511C>T (p.Asp1837=) c.5628C>T (p.Asp1876=) c.5514C>T (p.Asp1838=) c.5577C>T (p.Asp1859=) c.5625C>T (p.Asp1875=) c.5607C>T (p.Asp1869=) c.5535C>T (p.Asp1845=) c.5562C>T (p.Asp1854=) c.5565C>T (p.Asp1855=) c.5604C>T (p.Asp1868=) c.5574C>T (p.Asp1858=) n.2396C>T c.5469C>T (p.Asp1823=) c.5532C>T (p.Asp1844=) c.5472C>T (p.Asp1824=) c.5670C>T (p.Asp1890=) c.5667C>T (p.Asp1889=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71669194A>C | CA347223098 | DYSF | c.3043A>C (p.Ile1015Leu) c.2260A>C (p.Ile754Leu) c.2368A>C (p.Ile790Leu) c.5512A>C (p.Ile1838Leu) c.5629A>C (p.Ile1877Leu) c.5515A>C (p.Ile1839Leu) c.5578A>C (p.Ile1860Leu) c.5626A>C (p.Ile1876Leu) c.5608A>C (p.Ile1870Leu) c.5536A>C (p.Ile1846Leu) c.5563A>C (p.Ile1855Leu) c.5566A>C (p.Ile1856Leu) c.5605A>C (p.Ile1869Leu) c.5575A>C (p.Ile1859Leu) n.2397A>C c.5470A>C (p.Ile1824Leu) c.5533A>C (p.Ile1845Leu) c.5473A>C (p.Ile1825Leu) c.5671A>C (p.Ile1891Leu) c.5668A>C (p.Ile1890Leu) | |
2 | g.71669194A>G | CA347223101 | DYSF | c.3043A>G (p.Ile1015Val) c.2260A>G (p.Ile754Val) c.2368A>G (p.Ile790Val) c.5512A>G (p.Ile1838Val) c.5629A>G (p.Ile1877Val) c.5515A>G (p.Ile1839Val) c.5578A>G (p.Ile1860Val) c.5626A>G (p.Ile1876Val) c.5608A>G (p.Ile1870Val) c.5536A>G (p.Ile1846Val) c.5563A>G (p.Ile1855Val) c.5566A>G (p.Ile1856Val) c.5605A>G (p.Ile1869Val) c.5575A>G (p.Ile1859Val) n.2397A>G c.5470A>G (p.Ile1824Val) c.5533A>G (p.Ile1845Val) c.5473A>G (p.Ile1825Val) c.5671A>G (p.Ile1891Val) c.5668A>G (p.Ile1890Val) | gnomAD v4 |
2 | g.71669194A>T | CA347223102 | DYSF | c.3043A>T (p.Ile1015Phe) c.2260A>T (p.Ile754Phe) c.2368A>T (p.Ile790Phe) c.5512A>T (p.Ile1838Phe) c.5629A>T (p.Ile1877Phe) c.5515A>T (p.Ile1839Phe) c.5578A>T (p.Ile1860Phe) c.5626A>T (p.Ile1876Phe) c.5608A>T (p.Ile1870Phe) c.5536A>T (p.Ile1846Phe) c.5563A>T (p.Ile1855Phe) c.5566A>T (p.Ile1856Phe) c.5605A>T (p.Ile1869Phe) c.5575A>T (p.Ile1859Phe) n.2397A>T c.5470A>T (p.Ile1824Phe) c.5533A>T (p.Ile1845Phe) c.5473A>T (p.Ile1825Phe) c.5671A>T (p.Ile1891Phe) c.5668A>T (p.Ile1890Phe) | |
2 | g.71669195T>A | CA347223104 | DYSF | c.3044T>A (p.Ile1015Asn) c.2261T>A (p.Ile754Asn) c.2369T>A (p.Ile790Asn) c.5513T>A (p.Ile1838Asn) c.5630T>A (p.Ile1877Asn) c.5516T>A (p.Ile1839Asn) c.5579T>A (p.Ile1860Asn) c.5627T>A (p.Ile1876Asn) c.5609T>A (p.Ile1870Asn) c.5537T>A (p.Ile1846Asn) c.5564T>A (p.Ile1855Asn) c.5567T>A (p.Ile1856Asn) c.5606T>A (p.Ile1869Asn) c.5576T>A (p.Ile1859Asn) n.2398T>A c.5471T>A (p.Ile1824Asn) c.5534T>A (p.Ile1845Asn) c.5474T>A (p.Ile1825Asn) c.5672T>A (p.Ile1891Asn) c.5669T>A (p.Ile1890Asn) | |
2 | g.71669195T>C | CA1707451 | DYSF | c.3044T>C (p.Ile1015Thr) c.2261T>C (p.Ile754Thr) c.2369T>C (p.Ile790Thr) c.5513T>C (p.Ile1838Thr) c.5630T>C (p.Ile1877Thr) c.5516T>C (p.Ile1839Thr) c.5579T>C (p.Ile1860Thr) c.5627T>C (p.Ile1876Thr) c.5609T>C (p.Ile1870Thr) c.5537T>C (p.Ile1846Thr) c.5564T>C (p.Ile1855Thr) c.5567T>C (p.Ile1856Thr) c.5606T>C (p.Ile1869Thr) c.5576T>C (p.Ile1859Thr) n.2398T>C c.5471T>C (p.Ile1824Thr) c.5534T>C (p.Ile1845Thr) c.5474T>C (p.Ile1825Thr) c.5672T>C (p.Ile1891Thr) c.5669T>C (p.Ile1890Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71669195T>G | CA347223107 | DYSF | c.3044T>G (p.Ile1015Ser) c.2261T>G (p.Ile754Ser) c.2369T>G (p.Ile790Ser) c.5513T>G (p.Ile1838Ser) c.5630T>G (p.Ile1877Ser) c.5516T>G (p.Ile1839Ser) c.5579T>G (p.Ile1860Ser) c.5627T>G (p.Ile1876Ser) c.5609T>G (p.Ile1870Ser) c.5537T>G (p.Ile1846Ser) c.5564T>G (p.Ile1855Ser) c.5567T>G (p.Ile1856Ser) c.5606T>G (p.Ile1869Ser) c.5576T>G (p.Ile1859Ser) n.2398T>G c.5471T>G (p.Ile1824Ser) c.5534T>G (p.Ile1845Ser) c.5474T>G (p.Ile1825Ser) c.5672T>G (p.Ile1891Ser) c.5669T>G (p.Ile1890Ser) | |
2 | g.71669195T= | CA1260152224 | DYSF | c.3044T= (p.Ile1015=) c.2261T= (p.Ile754=) c.2369T= (p.Ile790=) c.5513T= (p.Ile1838=) c.5630T= (p.Ile1877=) c.5516T= (p.Ile1839=) c.5579T= (p.Ile1860=) c.5627T= (p.Ile1876=) c.5609T= (p.Ile1870=) c.5537T= (p.Ile1846=) c.5564T= (p.Ile1855=) c.5567T= (p.Ile1856=) c.5606T= (p.Ile1869=) c.5576T= (p.Ile1859=) n.2398T= c.5471T= (p.Ile1824=) c.5534T= (p.Ile1845=) c.5474T= (p.Ile1825=) c.5672T= (p.Ile1891=) c.5669T= (p.Ile1890=) | |
2 | g.71669196T>A | CA426704457 | DYSF | c.3045T>A (p.Ile1015=) c.2262T>A (p.Ile754=) c.2370T>A (p.Ile790=) c.5514T>A (p.Ile1838=) c.5631T>A (p.Ile1877=) c.5517T>A (p.Ile1839=) c.5580T>A (p.Ile1860=) c.5628T>A (p.Ile1876=) c.5610T>A (p.Ile1870=) c.5538T>A (p.Ile1846=) c.5565T>A (p.Ile1855=) c.5568T>A (p.Ile1856=) c.5607T>A (p.Ile1869=) c.5577T>A (p.Ile1859=) n.2399T>A c.5472T>A (p.Ile1824=) c.5535T>A (p.Ile1845=) c.5475T>A (p.Ile1825=) c.5673T>A (p.Ile1891=) c.5670T>A (p.Ile1890=) | |
2 | g.71669196T>C | CA426704458 | DYSF | c.3045T>C (p.Ile1015=) c.2262T>C (p.Ile754=) c.2370T>C (p.Ile790=) c.5514T>C (p.Ile1838=) c.5631T>C (p.Ile1877=) c.5517T>C (p.Ile1839=) c.5580T>C (p.Ile1860=) c.5628T>C (p.Ile1876=) c.5610T>C (p.Ile1870=) c.5538T>C (p.Ile1846=) c.5565T>C (p.Ile1855=) c.5568T>C (p.Ile1856=) c.5607T>C (p.Ile1869=) c.5577T>C (p.Ile1859=) n.2399T>C c.5472T>C (p.Ile1824=) c.5535T>C (p.Ile1845=) c.5475T>C (p.Ile1825=) c.5673T>C (p.Ile1891=) c.5670T>C (p.Ile1890=) | |
2 | g.71669196T>G | CA347223110 | DYSF | c.3045T>G (p.Ile1015Met) c.2262T>G (p.Ile754Met) c.2370T>G (p.Ile790Met) c.5514T>G (p.Ile1838Met) c.5631T>G (p.Ile1877Met) c.5517T>G (p.Ile1839Met) c.5580T>G (p.Ile1860Met) c.5628T>G (p.Ile1876Met) c.5610T>G (p.Ile1870Met) c.5538T>G (p.Ile1846Met) c.5565T>G (p.Ile1855Met) c.5568T>G (p.Ile1856Met) c.5607T>G (p.Ile1869Met) c.5577T>G (p.Ile1859Met) n.2399T>G c.5472T>G (p.Ile1824Met) c.5535T>G (p.Ile1845Met) c.5475T>G (p.Ile1825Met) c.5673T>G (p.Ile1891Met) c.5670T>G (p.Ile1890Met) | |
2 | g.71669197T>A | CA347223119 | DYSF | c.3046T>A (p.Tyr1016Asn) c.2263T>A (p.Tyr755Asn) c.2371T>A (p.Tyr791Asn) c.5515T>A (p.Tyr1839Asn) c.5632T>A (p.Tyr1878Asn) c.5518T>A (p.Tyr1840Asn) c.5581T>A (p.Tyr1861Asn) c.5629T>A (p.Tyr1877Asn) c.5611T>A (p.Tyr1871Asn) c.5539T>A (p.Tyr1847Asn) c.5566T>A (p.Tyr1856Asn) c.5569T>A (p.Tyr1857Asn) c.5608T>A (p.Tyr1870Asn) c.5578T>A (p.Tyr1860Asn) n.2400T>A c.5473T>A (p.Tyr1825Asn) c.5536T>A (p.Tyr1846Asn) c.5476T>A (p.Tyr1826Asn) c.5674T>A (p.Tyr1892Asn) c.5671T>A (p.Tyr1891Asn) | |
2 | g.71669197T>C | CA347223113 | DYSF | c.3046T>C (p.Tyr1016His) c.2263T>C (p.Tyr755His) c.2371T>C (p.Tyr791His) c.5515T>C (p.Tyr1839His) c.5632T>C (p.Tyr1878His) c.5518T>C (p.Tyr1840His) c.5581T>C (p.Tyr1861His) c.5629T>C (p.Tyr1877His) c.5611T>C (p.Tyr1871His) c.5539T>C (p.Tyr1847His) c.5566T>C (p.Tyr1856His) c.5569T>C (p.Tyr1857His) c.5608T>C (p.Tyr1870His) c.5578T>C (p.Tyr1860His) n.2400T>C c.5473T>C (p.Tyr1825His) c.5536T>C (p.Tyr1846His) c.5476T>C (p.Tyr1826His) c.5674T>C (p.Tyr1892His) c.5671T>C (p.Tyr1891His) | |
2 | g.71669197T>G | CA347223117 | DYSF | c.3046T>G (p.Tyr1016Asp) c.2263T>G (p.Tyr755Asp) c.2371T>G (p.Tyr791Asp) c.5515T>G (p.Tyr1839Asp) c.5632T>G (p.Tyr1878Asp) c.5518T>G (p.Tyr1840Asp) c.5581T>G (p.Tyr1861Asp) c.5629T>G (p.Tyr1877Asp) c.5611T>G (p.Tyr1871Asp) c.5539T>G (p.Tyr1847Asp) c.5566T>G (p.Tyr1856Asp) c.5569T>G (p.Tyr1857Asp) c.5608T>G (p.Tyr1870Asp) c.5578T>G (p.Tyr1860Asp) n.2400T>G c.5473T>G (p.Tyr1825Asp) c.5536T>G (p.Tyr1846Asp) c.5476T>G (p.Tyr1826Asp) c.5674T>G (p.Tyr1892Asp) c.5671T>G (p.Tyr1891Asp) | |
2 | g.71669198A>C | CA347223122 | DYSF | c.3047A>C (p.Tyr1016Ser) c.2264A>C (p.Tyr755Ser) c.2372A>C (p.Tyr791Ser) c.5516A>C (p.Tyr1839Ser) c.5633A>C (p.Tyr1878Ser) c.5519A>C (p.Tyr1840Ser) c.5582A>C (p.Tyr1861Ser) c.5630A>C (p.Tyr1877Ser) c.5612A>C (p.Tyr1871Ser) c.5540A>C (p.Tyr1847Ser) c.5567A>C (p.Tyr1856Ser) c.5570A>C (p.Tyr1857Ser) c.5609A>C (p.Tyr1870Ser) c.5579A>C (p.Tyr1860Ser) n.2401A>C c.5474A>C (p.Tyr1825Ser) c.5537A>C (p.Tyr1846Ser) c.5477A>C (p.Tyr1826Ser) c.5675A>C (p.Tyr1892Ser) c.5672A>C (p.Tyr1891Ser) | |
2 | g.71669198A>G | CA347223129 | DYSF | c.3047A>G (p.Tyr1016Cys) c.2264A>G (p.Tyr755Cys) c.2372A>G (p.Tyr791Cys) c.5516A>G (p.Tyr1839Cys) c.5633A>G (p.Tyr1878Cys) c.5519A>G (p.Tyr1840Cys) c.5582A>G (p.Tyr1861Cys) c.5630A>G (p.Tyr1877Cys) c.5612A>G (p.Tyr1871Cys) c.5540A>G (p.Tyr1847Cys) c.5567A>G (p.Tyr1856Cys) c.5570A>G (p.Tyr1857Cys) c.5609A>G (p.Tyr1870Cys) c.5579A>G (p.Tyr1860Cys) n.2401A>G c.5474A>G (p.Tyr1825Cys) c.5537A>G (p.Tyr1846Cys) c.5477A>G (p.Tyr1826Cys) c.5675A>G (p.Tyr1892Cys) c.5672A>G (p.Tyr1891Cys) | gnomAD v4 |
2 | g.71669198A>T | CA347223130 | DYSF | c.3047A>T (p.Tyr1016Phe) c.2264A>T (p.Tyr755Phe) c.2372A>T (p.Tyr791Phe) c.5516A>T (p.Tyr1839Phe) c.5633A>T (p.Tyr1878Phe) c.5519A>T (p.Tyr1840Phe) c.5582A>T (p.Tyr1861Phe) c.5630A>T (p.Tyr1877Phe) c.5612A>T (p.Tyr1871Phe) c.5540A>T (p.Tyr1847Phe) c.5567A>T (p.Tyr1856Phe) c.5570A>T (p.Tyr1857Phe) c.5609A>T (p.Tyr1870Phe) c.5579A>T (p.Tyr1860Phe) n.2401A>T c.5474A>T (p.Tyr1825Phe) c.5537A>T (p.Tyr1846Phe) c.5477A>T (p.Tyr1826Phe) c.5675A>T (p.Tyr1892Phe) c.5672A>T (p.Tyr1891Phe) | gnomAD v4 |
2 | g.71669199T>A | CA347223131 | DYSF | c.3048T>A (p.Tyr1016Ter) c.2265T>A (p.Tyr755Ter) c.2373T>A (p.Tyr791Ter) c.5517T>A (p.Tyr1839Ter) c.5634T>A (p.Tyr1878Ter) c.5520T>A (p.Tyr1840Ter) c.5583T>A (p.Tyr1861Ter) c.5631T>A (p.Tyr1877Ter) c.5613T>A (p.Tyr1871Ter) c.5541T>A (p.Tyr1847Ter) c.5568T>A (p.Tyr1856Ter) c.5571T>A (p.Tyr1857Ter) c.5610T>A (p.Tyr1870Ter) c.5580T>A (p.Tyr1860Ter) n.2402T>A c.5475T>A (p.Tyr1825Ter) c.5538T>A (p.Tyr1846Ter) c.5478T>A (p.Tyr1826Ter) c.5676T>A (p.Tyr1892Ter) c.5673T>A (p.Tyr1891Ter) | |
2 | g.71669199T>C | CA426704459 | DYSF | c.3048T>C (p.Tyr1016=) c.2265T>C (p.Tyr755=) c.2373T>C (p.Tyr791=) c.5517T>C (p.Tyr1839=) c.5634T>C (p.Tyr1878=) c.5520T>C (p.Tyr1840=) c.5583T>C (p.Tyr1861=) c.5631T>C (p.Tyr1877=) c.5613T>C (p.Tyr1871=) c.5541T>C (p.Tyr1847=) c.5568T>C (p.Tyr1856=) c.5571T>C (p.Tyr1857=) c.5610T>C (p.Tyr1870=) c.5580T>C (p.Tyr1860=) n.2402T>C c.5475T>C (p.Tyr1825=) c.5538T>C (p.Tyr1846=) c.5478T>C (p.Tyr1826=) c.5676T>C (p.Tyr1892=) c.5673T>C (p.Tyr1891=) | ClinVar dbSNP gnomAD v4 |
2 | g.71669199T>G | CA347223132 | DYSF | c.3048T>G (p.Tyr1016Ter) c.2265T>G (p.Tyr755Ter) c.2373T>G (p.Tyr791Ter) c.5517T>G (p.Tyr1839Ter) c.5634T>G (p.Tyr1878Ter) c.5520T>G (p.Tyr1840Ter) c.5583T>G (p.Tyr1861Ter) c.5631T>G (p.Tyr1877Ter) c.5613T>G (p.Tyr1871Ter) c.5541T>G (p.Tyr1847Ter) c.5568T>G (p.Tyr1856Ter) c.5571T>G (p.Tyr1857Ter) c.5610T>G (p.Tyr1870Ter) c.5580T>G (p.Tyr1860Ter) n.2402T>G c.5475T>G (p.Tyr1825Ter) c.5538T>G (p.Tyr1846Ter) c.5478T>G (p.Tyr1826Ter) c.5676T>G (p.Tyr1892Ter) c.5673T>G (p.Tyr1891Ter) | |
2 | g.71669199T= | CA1260152225 | DYSF | c.3048T= (p.Tyr1016=) c.2265T= (p.Tyr755=) c.2373T= (p.Tyr791=) c.5517T= (p.Tyr1839=) c.5634T= (p.Tyr1878=) c.5520T= (p.Tyr1840=) c.5583T= (p.Tyr1861=) c.5631T= (p.Tyr1877=) c.5613T= (p.Tyr1871=) c.5541T= (p.Tyr1847=) c.5568T= (p.Tyr1856=) c.5571T= (p.Tyr1857=) c.5610T= (p.Tyr1870=) c.5580T= (p.Tyr1860=) n.2402T= c.5475T= (p.Tyr1825=) c.5538T= (p.Tyr1846=) c.5478T= (p.Tyr1826=) c.5676T= (p.Tyr1892=) c.5673T= (p.Tyr1891=) | |
2 | g.71669200del | CA2580067840 | DYSF | c.3049del (p.Val1017Ter) c.2266del (p.Val756Ter) c.2374del (p.Val792Ter) c.5518del (p.Val1840Ter) c.5635del (p.Val1879Ter) c.5521del (p.Val1841Ter) c.5584del (p.Val1862Ter) c.5632del (p.Val1878Ter) c.5614del (p.Val1872Ter) c.5542del (p.Val1848Ter) c.5569del (p.Val1857Ter) c.5572del (p.Val1858Ter) c.5611del (p.Val1871Ter) c.5581del (p.Val1861Ter) n.2403del c.5476del (p.Val1826Ter) c.5539del (p.Val1847Ter) c.5479del (p.Val1827Ter) c.5677del (p.Val1893Ter) c.5674del (p.Val1892Ter) | ClinVar |
2 | g.71669200G>A | CA10604806 | DYSF | c.3049G>A (p.Val1017Met) c.2266G>A (p.Val756Met) c.2374G>A (p.Val792Met) c.5518G>A (p.Val1840Met) c.5635G>A (p.Val1879Met) c.5521G>A (p.Val1841Met) c.5584G>A (p.Val1862Met) c.5632G>A (p.Val1878Met) c.5614G>A (p.Val1872Met) c.5542G>A (p.Val1848Met) c.5569G>A (p.Val1857Met) c.5572G>A (p.Val1858Met) c.5611G>A (p.Val1871Met) c.5581G>A (p.Val1861Met) n.2403G>A c.5476G>A (p.Val1826Met) c.5539G>A (p.Val1847Met) c.5479G>A (p.Val1827Met) c.5677G>A (p.Val1893Met) c.5674G>A (p.Val1892Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71669200G>C | CA347223133 | DYSF | c.3049G>C (p.Val1017Leu) c.2266G>C (p.Val756Leu) c.2374G>C (p.Val792Leu) c.5518G>C (p.Val1840Leu) c.5635G>C (p.Val1879Leu) c.5521G>C (p.Val1841Leu) c.5584G>C (p.Val1862Leu) c.5632G>C (p.Val1878Leu) c.5614G>C (p.Val1872Leu) c.5542G>C (p.Val1848Leu) c.5569G>C (p.Val1857Leu) c.5572G>C (p.Val1858Leu) c.5611G>C (p.Val1871Leu) c.5581G>C (p.Val1861Leu) n.2403G>C c.5476G>C (p.Val1826Leu) c.5539G>C (p.Val1847Leu) c.5479G>C (p.Val1827Leu) c.5677G>C (p.Val1893Leu) c.5674G>C (p.Val1892Leu) | |
2 | g.71669200G= | CA1260152226 | DYSF | c.3049G= (p.Val1017=) c.2266G= (p.Val756=) c.2374G= (p.Val792=) c.5518G= (p.Val1840=) c.5635G= (p.Val1879=) c.5521G= (p.Val1841=) c.5584G= (p.Val1862=) c.5632G= (p.Val1878=) c.5614G= (p.Val1872=) c.5542G= (p.Val1848=) c.5569G= (p.Val1857=) c.5572G= (p.Val1858=) c.5611G= (p.Val1871=) c.5581G= (p.Val1861=) n.2403G= c.5476G= (p.Val1826=) c.5539G= (p.Val1847=) c.5479G= (p.Val1827=) c.5677G= (p.Val1893=) c.5674G= (p.Val1892=) | |
2 | g.71669200G>T | CA347223135 | DYSF | c.3049G>T (p.Val1017Leu) c.2266G>T (p.Val756Leu) c.2374G>T (p.Val792Leu) c.5518G>T (p.Val1840Leu) c.5635G>T (p.Val1879Leu) c.5521G>T (p.Val1841Leu) c.5584G>T (p.Val1862Leu) c.5632G>T (p.Val1878Leu) c.5614G>T (p.Val1872Leu) c.5542G>T (p.Val1848Leu) c.5569G>T (p.Val1857Leu) c.5572G>T (p.Val1858Leu) c.5611G>T (p.Val1871Leu) c.5581G>T (p.Val1861Leu) n.2403G>T c.5476G>T (p.Val1826Leu) c.5539G>T (p.Val1847Leu) c.5479G>T (p.Val1827Leu) c.5677G>T (p.Val1893Leu) c.5674G>T (p.Val1892Leu) | |
2 | g.71669201T>A | CA347223138 | DYSF | c.3050T>A (p.Val1017Glu) c.2267T>A (p.Val756Glu) c.2375T>A (p.Val792Glu) c.5519T>A (p.Val1840Glu) c.5636T>A (p.Val1879Glu) c.5522T>A (p.Val1841Glu) c.5585T>A (p.Val1862Glu) c.5633T>A (p.Val1878Glu) c.5615T>A (p.Val1872Glu) c.5543T>A (p.Val1848Glu) c.5570T>A (p.Val1857Glu) c.5573T>A (p.Val1858Glu) c.5612T>A (p.Val1871Glu) c.5582T>A (p.Val1861Glu) n.2404T>A c.5477T>A (p.Val1826Glu) c.5540T>A (p.Val1847Glu) c.5480T>A (p.Val1827Glu) c.5678T>A (p.Val1893Glu) c.5675T>A (p.Val1892Glu) | |
2 | g.71669201T>C | CA347223140 | DYSF | c.3050T>C (p.Val1017Ala) c.2267T>C (p.Val756Ala) c.2375T>C (p.Val792Ala) c.5519T>C (p.Val1840Ala) c.5636T>C (p.Val1879Ala) c.5522T>C (p.Val1841Ala) c.5585T>C (p.Val1862Ala) c.5633T>C (p.Val1878Ala) c.5615T>C (p.Val1872Ala) c.5543T>C (p.Val1848Ala) c.5570T>C (p.Val1857Ala) c.5573T>C (p.Val1858Ala) c.5612T>C (p.Val1871Ala) c.5582T>C (p.Val1861Ala) n.2404T>C c.5477T>C (p.Val1826Ala) c.5540T>C (p.Val1847Ala) c.5480T>C (p.Val1827Ala) c.5678T>C (p.Val1893Ala) c.5675T>C (p.Val1892Ala) | gnomAD v4 |
2 | g.71669201T>G | CA347223142 | DYSF | c.3050T>G (p.Val1017Gly) c.2267T>G (p.Val756Gly) c.2375T>G (p.Val792Gly) c.5519T>G (p.Val1840Gly) c.5636T>G (p.Val1879Gly) c.5522T>G (p.Val1841Gly) c.5585T>G (p.Val1862Gly) c.5633T>G (p.Val1878Gly) c.5615T>G (p.Val1872Gly) c.5543T>G (p.Val1848Gly) c.5570T>G (p.Val1857Gly) c.5573T>G (p.Val1858Gly) c.5612T>G (p.Val1871Gly) c.5582T>G (p.Val1861Gly) n.2404T>G c.5477T>G (p.Val1826Gly) c.5540T>G (p.Val1847Gly) c.5480T>G (p.Val1827Gly) c.5678T>G (p.Val1893Gly) c.5675T>G (p.Val1892Gly) | |
2 | g.71669202G>A | CA426704460 | DYSF | c.3051G>A (p.Val1017=) c.2268G>A (p.Val756=) c.2376G>A (p.Val792=) c.5520G>A (p.Val1840=) c.5637G>A (p.Val1879=) c.5523G>A (p.Val1841=) c.5586G>A (p.Val1862=) c.5634G>A (p.Val1878=) c.5616G>A (p.Val1872=) c.5544G>A (p.Val1848=) c.5571G>A (p.Val1857=) c.5574G>A (p.Val1858=) c.5613G>A (p.Val1871=) c.5583G>A (p.Val1861=) n.2405G>A c.5478G>A (p.Val1826=) c.5541G>A (p.Val1847=) c.5481G>A (p.Val1827=) c.5679G>A (p.Val1893=) c.5676G>A (p.Val1892=) | gnomAD v4 |
2 | g.71669202G>C | CA426704461 | DYSF | c.3051G>C (p.Val1017=) c.2268G>C (p.Val756=) c.2376G>C (p.Val792=) c.5520G>C (p.Val1840=) c.5637G>C (p.Val1879=) c.5523G>C (p.Val1841=) c.5586G>C (p.Val1862=) c.5634G>C (p.Val1878=) c.5616G>C (p.Val1872=) c.5544G>C (p.Val1848=) c.5571G>C (p.Val1857=) c.5574G>C (p.Val1858=) c.5613G>C (p.Val1871=) c.5583G>C (p.Val1861=) n.2405G>C c.5478G>C (p.Val1826=) c.5541G>C (p.Val1847=) c.5481G>C (p.Val1827=) c.5679G>C (p.Val1893=) c.5676G>C (p.Val1892=) | |
2 | g.71669202G>T | CA426704462 | DYSF | c.3051G>T (p.Val1017=) c.2268G>T (p.Val756=) c.2376G>T (p.Val792=) c.5520G>T (p.Val1840=) c.5637G>T (p.Val1879=) c.5523G>T (p.Val1841=) c.5586G>T (p.Val1862=) c.5634G>T (p.Val1878=) c.5616G>T (p.Val1872=) c.5544G>T (p.Val1848=) c.5571G>T (p.Val1857=) c.5574G>T (p.Val1858=) c.5613G>T (p.Val1871=) c.5583G>T (p.Val1861=) n.2405G>T c.5478G>T (p.Val1826=) c.5541G>T (p.Val1847=) c.5481G>T (p.Val1827=) c.5679G>T (p.Val1893=) c.5676G>T (p.Val1892=) | gnomAD v4 |
2 | g.71669203A= | CA1260152227 | DYSF | c.3052A= (p.Lys1018=) c.2269A= (p.Lys757=) c.2377A= (p.Lys793=) c.5521A= (p.Lys1841=) c.5638A= (p.Lys1880=) c.5524A= (p.Lys1842=) c.5587A= (p.Lys1863=) c.5635A= (p.Lys1879=) c.5617A= (p.Lys1873=) c.5545A= (p.Lys1849=) c.5572A= (p.Lys1858=) c.5575A= (p.Lys1859=) c.5614A= (p.Lys1872=) c.5584A= (p.Lys1862=) n.2406A= c.5479A= (p.Lys1827=) c.5542A= (p.Lys1848=) c.5482A= (p.Lys1828=) c.5680A= (p.Lys1894=) c.5677A= (p.Lys1893=) | |
2 | g.71669203A>C | CA347223150 | DYSF | c.3052A>C (p.Lys1018Gln) c.2269A>C (p.Lys757Gln) c.2377A>C (p.Lys793Gln) c.5521A>C (p.Lys1841Gln) c.5638A>C (p.Lys1880Gln) c.5524A>C (p.Lys1842Gln) c.5587A>C (p.Lys1863Gln) c.5635A>C (p.Lys1879Gln) c.5617A>C (p.Lys1873Gln) c.5545A>C (p.Lys1849Gln) c.5572A>C (p.Lys1858Gln) c.5575A>C (p.Lys1859Gln) c.5614A>C (p.Lys1872Gln) c.5584A>C (p.Lys1862Gln) n.2406A>C c.5479A>C (p.Lys1827Gln) c.5542A>C (p.Lys1848Gln) c.5482A>C (p.Lys1828Gln) c.5680A>C (p.Lys1894Gln) c.5677A>C (p.Lys1893Gln) | |
2 | g.71669203A>G | CA347223146 | DYSF | c.3052A>G (p.Lys1018Glu) c.2269A>G (p.Lys757Glu) c.2377A>G (p.Lys793Glu) c.5521A>G (p.Lys1841Glu) c.5638A>G (p.Lys1880Glu) c.5524A>G (p.Lys1842Glu) c.5587A>G (p.Lys1863Glu) c.5635A>G (p.Lys1879Glu) c.5617A>G (p.Lys1873Glu) c.5545A>G (p.Lys1849Glu) c.5572A>G (p.Lys1858Glu) c.5575A>G (p.Lys1859Glu) c.5614A>G (p.Lys1872Glu) c.5584A>G (p.Lys1862Glu) n.2406A>G c.5479A>G (p.Lys1827Glu) c.5542A>G (p.Lys1848Glu) c.5482A>G (p.Lys1828Glu) c.5680A>G (p.Lys1894Glu) c.5677A>G (p.Lys1893Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71669203A>T | CA347223148 | DYSF | c.3052A>T (p.Lys1018Ter) c.2269A>T (p.Lys757Ter) c.2377A>T (p.Lys793Ter) c.5521A>T (p.Lys1841Ter) c.5638A>T (p.Lys1880Ter) c.5524A>T (p.Lys1842Ter) c.5587A>T (p.Lys1863Ter) c.5635A>T (p.Lys1879Ter) c.5617A>T (p.Lys1873Ter) c.5545A>T (p.Lys1849Ter) c.5572A>T (p.Lys1858Ter) c.5575A>T (p.Lys1859Ter) c.5614A>T (p.Lys1872Ter) c.5584A>T (p.Lys1862Ter) n.2406A>T c.5479A>T (p.Lys1827Ter) c.5542A>T (p.Lys1848Ter) c.5482A>T (p.Lys1828Ter) c.5680A>T (p.Lys1894Ter) c.5677A>T (p.Lys1893Ter) | ClinVar dbSNP |
2 | g.71669204A>C | CA347223152 | DYSF | c.3053A>C (p.Lys1018Thr) c.2270A>C (p.Lys757Thr) c.2378A>C (p.Lys793Thr) c.5522A>C (p.Lys1841Thr) c.5639A>C (p.Lys1880Thr) c.5525A>C (p.Lys1842Thr) c.5588A>C (p.Lys1863Thr) c.5636A>C (p.Lys1879Thr) c.5618A>C (p.Lys1873Thr) c.5546A>C (p.Lys1849Thr) c.5573A>C (p.Lys1858Thr) c.5576A>C (p.Lys1859Thr) c.5615A>C (p.Lys1872Thr) c.5585A>C (p.Lys1862Thr) n.2407A>C c.5480A>C (p.Lys1827Thr) c.5543A>C (p.Lys1848Thr) c.5483A>C (p.Lys1828Thr) c.5681A>C (p.Lys1894Thr) c.5678A>C (p.Lys1893Thr) | |
2 | g.71669204A>G | CA347223155 | DYSF | c.3053A>G (p.Lys1018Arg) c.2270A>G (p.Lys757Arg) c.2378A>G (p.Lys793Arg) c.5522A>G (p.Lys1841Arg) c.5639A>G (p.Lys1880Arg) c.5525A>G (p.Lys1842Arg) c.5588A>G (p.Lys1863Arg) c.5636A>G (p.Lys1879Arg) c.5618A>G (p.Lys1873Arg) c.5546A>G (p.Lys1849Arg) c.5573A>G (p.Lys1858Arg) c.5576A>G (p.Lys1859Arg) c.5615A>G (p.Lys1872Arg) c.5585A>G (p.Lys1862Arg) n.2407A>G c.5480A>G (p.Lys1827Arg) c.5543A>G (p.Lys1848Arg) c.5483A>G (p.Lys1828Arg) c.5681A>G (p.Lys1894Arg) c.5678A>G (p.Lys1893Arg) | |
2 | g.71669204A>T | CA347223158 | DYSF | c.3053A>T (p.Lys1018Ile) c.2270A>T (p.Lys757Ile) c.2378A>T (p.Lys793Ile) c.5522A>T (p.Lys1841Ile) c.5639A>T (p.Lys1880Ile) c.5525A>T (p.Lys1842Ile) c.5588A>T (p.Lys1863Ile) c.5636A>T (p.Lys1879Ile) c.5618A>T (p.Lys1873Ile) c.5546A>T (p.Lys1849Ile) c.5573A>T (p.Lys1858Ile) c.5576A>T (p.Lys1859Ile) c.5615A>T (p.Lys1872Ile) c.5585A>T (p.Lys1862Ile) n.2407A>T c.5480A>T (p.Lys1827Ile) c.5543A>T (p.Lys1848Ile) c.5483A>T (p.Lys1828Ile) c.5681A>T (p.Lys1894Ile) c.5678A>T (p.Lys1893Ile) | |
2 | g.71669205A>C | CA347223163 | DYSF | c.3054A>C (p.Lys1018Asn) c.2271A>C (p.Lys757Asn) c.2379A>C (p.Lys793Asn) c.5523A>C (p.Lys1841Asn) c.5640A>C (p.Lys1880Asn) c.5526A>C (p.Lys1842Asn) c.5589A>C (p.Lys1863Asn) c.5637A>C (p.Lys1879Asn) c.5619A>C (p.Lys1873Asn) c.5547A>C (p.Lys1849Asn) c.5574A>C (p.Lys1858Asn) c.5577A>C (p.Lys1859Asn) c.5616A>C (p.Lys1872Asn) c.5586A>C (p.Lys1862Asn) n.2408A>C c.5481A>C (p.Lys1827Asn) c.5544A>C (p.Lys1848Asn) c.5484A>C (p.Lys1828Asn) c.5682A>C (p.Lys1894Asn) c.5679A>C (p.Lys1893Asn) | |
2 | g.71669205A>G | CA426704463 | DYSF | c.3054A>G (p.Lys1018=) c.2271A>G (p.Lys757=) c.2379A>G (p.Lys793=) c.5523A>G (p.Lys1841=) c.5640A>G (p.Lys1880=) c.5526A>G (p.Lys1842=) c.5589A>G (p.Lys1863=) c.5637A>G (p.Lys1879=) c.5619A>G (p.Lys1873=) c.5547A>G (p.Lys1849=) c.5574A>G (p.Lys1858=) c.5577A>G (p.Lys1859=) c.5616A>G (p.Lys1872=) c.5586A>G (p.Lys1862=) n.2408A>G c.5481A>G (p.Lys1827=) c.5544A>G (p.Lys1848=) c.5484A>G (p.Lys1828=) c.5682A>G (p.Lys1894=) c.5679A>G (p.Lys1893=) | |
2 | g.71669205A>T | CA347223170 | DYSF | c.3054A>T (p.Lys1018Asn) c.2271A>T (p.Lys757Asn) c.2379A>T (p.Lys793Asn) c.5523A>T (p.Lys1841Asn) c.5640A>T (p.Lys1880Asn) c.5526A>T (p.Lys1842Asn) c.5589A>T (p.Lys1863Asn) c.5637A>T (p.Lys1879Asn) c.5619A>T (p.Lys1873Asn) c.5547A>T (p.Lys1849Asn) c.5574A>T (p.Lys1858Asn) c.5577A>T (p.Lys1859Asn) c.5616A>T (p.Lys1872Asn) c.5586A>T (p.Lys1862Asn) n.2408A>T c.5481A>T (p.Lys1827Asn) c.5544A>T (p.Lys1848Asn) c.5484A>T (p.Lys1828Asn) c.5682A>T (p.Lys1894Asn) c.5679A>T (p.Lys1893Asn) | |
2 | g.71669207_71669219del | CA2695200833 | DYSF | c.3056_3056+12del c.2273_2273+12del c.2381_2381+12del c.5525_5525+12del c.5642_5642+12del c.5528_5528+12del c.5591_5591+12del c.5639_5639+12del c.5621_5621+12del c.5549_5549+12del c.5576_5576+12del c.5579_5579+12del c.5618_5618+12del c.5588_5588+12del n.2410_2410+12del c.5483_5483+12del c.5546_5546+12del c.5486_5486+12del c.5684_5684+12del c.5681_5681+12del | ClinVar |
2 | g.71669206G>A | CA347223172 | DYSF | c.3055G>A (p.Gly1019Ser) c.2272G>A (p.Gly758Ser) c.2380G>A (p.Gly794Ser) c.5524G>A (p.Gly1842Ser) c.5641G>A (p.Gly1881Ser) c.5527G>A (p.Gly1843Ser) c.5590G>A (p.Gly1864Ser) c.5638G>A (p.Gly1880Ser) c.5620G>A (p.Gly1874Ser) c.5548G>A (p.Gly1850Ser) c.5575G>A (p.Gly1859Ser) c.5578G>A (p.Gly1860Ser) c.5617G>A (p.Gly1873Ser) c.5587G>A (p.Gly1863Ser) n.2409G>A c.5482G>A (p.Gly1828Ser) c.5545G>A (p.Gly1849Ser) c.5485G>A (p.Gly1829Ser) c.5683G>A (p.Gly1895Ser) c.5680G>A (p.Gly1894Ser) | gnomAD v4 |
2 | g.71669206G>C | CA347223174 | DYSF | c.3055G>C (p.Gly1019Arg) c.2272G>C (p.Gly758Arg) c.2380G>C (p.Gly794Arg) c.5524G>C (p.Gly1842Arg) c.5641G>C (p.Gly1881Arg) c.5527G>C (p.Gly1843Arg) c.5590G>C (p.Gly1864Arg) c.5638G>C (p.Gly1880Arg) c.5620G>C (p.Gly1874Arg) c.5548G>C (p.Gly1850Arg) c.5575G>C (p.Gly1859Arg) c.5578G>C (p.Gly1860Arg) c.5617G>C (p.Gly1873Arg) c.5587G>C (p.Gly1863Arg) n.2409G>C c.5482G>C (p.Gly1828Arg) c.5545G>C (p.Gly1849Arg) c.5485G>C (p.Gly1829Arg) c.5683G>C (p.Gly1895Arg) c.5680G>C (p.Gly1894Arg) | |
2 | g.71669206G>T | CA347223178 | DYSF | c.3055G>T (p.Gly1019Cys) c.2272G>T (p.Gly758Cys) c.2380G>T (p.Gly794Cys) c.5524G>T (p.Gly1842Cys) c.5641G>T (p.Gly1881Cys) c.5527G>T (p.Gly1843Cys) c.5590G>T (p.Gly1864Cys) c.5638G>T (p.Gly1880Cys) c.5620G>T (p.Gly1874Cys) c.5548G>T (p.Gly1850Cys) c.5575G>T (p.Gly1859Cys) c.5578G>T (p.Gly1860Cys) c.5617G>T (p.Gly1873Cys) c.5587G>T (p.Gly1863Cys) n.2409G>T c.5482G>T (p.Gly1828Cys) c.5545G>T (p.Gly1849Cys) c.5485G>T (p.Gly1829Cys) c.5683G>T (p.Gly1895Cys) c.5680G>T (p.Gly1894Cys) | |
2 | g.71669208del | CA2586969531 | DYSF | c.3056+1del c.2273+1del c.2381+1del c.5525+1del c.5642+1del c.5528+1del c.5591+1del c.5639+1del c.5621+1del c.5549+1del c.5576+1del c.5579+1del c.5618+1del c.5588+1del n.2410+1del c.5483+1del c.5546+1del c.5486+1del c.5684+1del c.5681+1del | |
2 | g.71669207G>A | CA347223179 | DYSF | c.3056G>A (p.Gly1019Asp) c.2273G>A (p.Gly758Asp) c.2381G>A (p.Gly794Asp) c.5525G>A (p.Gly1842Asp) c.5642G>A (p.Gly1881Asp) c.5528G>A (p.Gly1843Asp) c.5591G>A (p.Gly1864Asp) c.5639G>A (p.Gly1880Asp) c.5621G>A (p.Gly1874Asp) c.5549G>A (p.Gly1850Asp) c.5576G>A (p.Gly1859Asp) c.5579G>A (p.Gly1860Asp) c.5618G>A (p.Gly1873Asp) c.5588G>A (p.Gly1863Asp) n.2410G>A c.5483G>A (p.Gly1828Asp) c.5546G>A (p.Gly1849Asp) c.5486G>A (p.Gly1829Asp) c.5684G>A (p.Gly1895Asp) c.5681G>A (p.Gly1894Asp) | ClinVar dbSNP |
2 | g.71669207G>C | CA347223181 | DYSF | c.3056G>C (p.Gly1019Ala) c.2273G>C (p.Gly758Ala) c.2381G>C (p.Gly794Ala) c.5525G>C (p.Gly1842Ala) c.5642G>C (p.Gly1881Ala) c.5528G>C (p.Gly1843Ala) c.5591G>C (p.Gly1864Ala) c.5639G>C (p.Gly1880Ala) c.5621G>C (p.Gly1874Ala) c.5549G>C (p.Gly1850Ala) c.5576G>C (p.Gly1859Ala) c.5579G>C (p.Gly1860Ala) c.5618G>C (p.Gly1873Ala) c.5588G>C (p.Gly1863Ala) n.2410G>C c.5483G>C (p.Gly1828Ala) c.5546G>C (p.Gly1849Ala) c.5486G>C (p.Gly1829Ala) c.5684G>C (p.Gly1895Ala) c.5681G>C (p.Gly1894Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71669207G= | CA1260152228 | DYSF | c.3056G= (p.Gly1019=) c.2273G= (p.Gly758=) c.2381G= (p.Gly794=) c.5525G= (p.Gly1842=) c.5642G= (p.Gly1881=) c.5528G= (p.Gly1843=) c.5591G= (p.Gly1864=) c.5639G= (p.Gly1880=) c.5621G= (p.Gly1874=) c.5549G= (p.Gly1850=) c.5576G= (p.Gly1859=) c.5579G= (p.Gly1860=) c.5618G= (p.Gly1873=) c.5588G= (p.Gly1863=) n.2410G= c.5483G= (p.Gly1828=) c.5546G= (p.Gly1849=) c.5486G= (p.Gly1829=) c.5684G= (p.Gly1895=) c.5681G= (p.Gly1894=) | |
2 | g.71669207G>T | CA347223183 | DYSF | c.3056G>T (p.Gly1019Val) c.2273G>T (p.Gly758Val) c.2381G>T (p.Gly794Val) c.5525G>T (p.Gly1842Val) c.5642G>T (p.Gly1881Val) c.5528G>T (p.Gly1843Val) c.5591G>T (p.Gly1864Val) c.5639G>T (p.Gly1880Val) c.5621G>T (p.Gly1874Val) c.5549G>T (p.Gly1850Val) c.5576G>T (p.Gly1859Val) c.5579G>T (p.Gly1860Val) c.5618G>T (p.Gly1873Val) c.5588G>T (p.Gly1863Val) n.2410G>T c.5483G>T (p.Gly1828Val) c.5546G>T (p.Gly1849Val) c.5486G>T (p.Gly1829Val) c.5684G>T (p.Gly1895Val) c.5681G>T (p.Gly1894Val) | gnomAD v4 |
2 | g.71669208G>A | CA233946 | DYSF | c.3056+1G>A (n.3056+1G>A) c.2273+1G>A (n.2273+1G>A) c.2381+1G>A (n.2381+1G>A) c.5525+1G>A (n.5525+1G>A) c.5642+1G>A (n.5642+1G>A) c.5528+1G>A (n.5528+1G>A) c.5591+1G>A (n.5591+1G>A) c.5639+1G>A (n.5639+1G>A) c.5621+1G>A (n.5621+1G>A) c.5549+1G>A (n.5549+1G>A) c.5576+1G>A (n.5576+1G>A) c.5579+1G>A (n.5579+1G>A) c.5618+1G>A (n.5618+1G>A) c.5588+1G>A (n.5588+1G>A) n.2410+1G>A c.5483+1G>A (n.5483+1G>A) c.5546+1G>A (n.5546+1G>A) c.5486+1G>A (n.5486+1G>A) c.5684+1G>A (n.5684+1G>A) c.5681+1G>A (n.5681+1G>A) | ClinVar dbSNP |
2 | g.71669208G>C | CA347223189 | DYSF | c.3056+1G>C (n.3056+1G>C) c.2273+1G>C (n.2273+1G>C) c.2381+1G>C (n.2381+1G>C) c.5525+1G>C (n.5525+1G>C) c.5642+1G>C (n.5642+1G>C) c.5528+1G>C (n.5528+1G>C) c.5591+1G>C (n.5591+1G>C) c.5639+1G>C (n.5639+1G>C) c.5621+1G>C (n.5621+1G>C) c.5549+1G>C (n.5549+1G>C) c.5576+1G>C (n.5576+1G>C) c.5579+1G>C (n.5579+1G>C) c.5618+1G>C (n.5618+1G>C) c.5588+1G>C (n.5588+1G>C) n.2410+1G>C c.5483+1G>C (n.5483+1G>C) c.5546+1G>C (n.5546+1G>C) c.5486+1G>C (n.5486+1G>C) c.5684+1G>C (n.5684+1G>C) c.5681+1G>C (n.5681+1G>C) | |
2 | g.71669208G= | CA1260152229 | DYSF | c.3056+1G= (n.3056+1G=) c.2273+1G= (n.2273+1G=) c.2381+1G= (n.2381+1G=) c.5525+1G= (n.5525+1G=) c.5642+1G= (n.5642+1G=) c.5528+1G= (n.5528+1G=) c.5591+1G= (n.5591+1G=) c.5639+1G= (n.5639+1G=) c.5621+1G= (n.5621+1G=) c.5549+1G= (n.5549+1G=) c.5576+1G= (n.5576+1G=) c.5579+1G= (n.5579+1G=) c.5618+1G= (n.5618+1G=) c.5588+1G= (n.5588+1G=) n.2410+1G= c.5483+1G= (n.5483+1G=) c.5546+1G= (n.5546+1G=) c.5486+1G= (n.5486+1G=) c.5684+1G= (n.5684+1G=) c.5681+1G= (n.5681+1G=) | |
2 | g.71669208G>T | CA347223186 | DYSF | c.3056+1G>T (n.3056+1G>T) c.2273+1G>T (n.2273+1G>T) c.2381+1G>T (n.2381+1G>T) c.5525+1G>T (n.5525+1G>T) c.5642+1G>T (n.5642+1G>T) c.5528+1G>T (n.5528+1G>T) c.5591+1G>T (n.5591+1G>T) c.5639+1G>T (n.5639+1G>T) c.5621+1G>T (n.5621+1G>T) c.5549+1G>T (n.5549+1G>T) c.5576+1G>T (n.5576+1G>T) c.5579+1G>T (n.5579+1G>T) c.5618+1G>T (n.5618+1G>T) c.5588+1G>T (n.5588+1G>T) n.2410+1G>T c.5483+1G>T (n.5483+1G>T) c.5546+1G>T (n.5546+1G>T) c.5486+1G>T (n.5486+1G>T) c.5684+1G>T (n.5684+1G>T) c.5681+1G>T (n.5681+1G>T) | |
2 | g.71669209T>A | CA347223195 | DYSF | c.3056+2T>A (n.3056+2T>A) c.2273+2T>A (n.2273+2T>A) c.2381+2T>A (n.2381+2T>A) c.5525+2T>A (n.5525+2T>A) c.5642+2T>A (n.5642+2T>A) c.5528+2T>A (n.5528+2T>A) c.5591+2T>A (n.5591+2T>A) c.5639+2T>A (n.5639+2T>A) c.5621+2T>A (n.5621+2T>A) c.5549+2T>A (n.5549+2T>A) c.5576+2T>A (n.5576+2T>A) c.5579+2T>A (n.5579+2T>A) c.5618+2T>A (n.5618+2T>A) c.5588+2T>A (n.5588+2T>A) n.2410+2T>A c.5483+2T>A (n.5483+2T>A) c.5546+2T>A (n.5546+2T>A) c.5486+2T>A (n.5486+2T>A) c.5684+2T>A (n.5684+2T>A) c.5681+2T>A (n.5681+2T>A) | ClinVar gnomAD v4 |
2 | g.71669209T>C | CA347223198 | DYSF | c.3056+2T>C (n.3056+2T>C) c.2273+2T>C (n.2273+2T>C) c.2381+2T>C (n.2381+2T>C) c.5525+2T>C (n.5525+2T>C) c.5642+2T>C (n.5642+2T>C) c.5528+2T>C (n.5528+2T>C) c.5591+2T>C (n.5591+2T>C) c.5639+2T>C (n.5639+2T>C) c.5621+2T>C (n.5621+2T>C) c.5549+2T>C (n.5549+2T>C) c.5576+2T>C (n.5576+2T>C) c.5579+2T>C (n.5579+2T>C) c.5618+2T>C (n.5618+2T>C) c.5588+2T>C (n.5588+2T>C) n.2410+2T>C c.5483+2T>C (n.5483+2T>C) c.5546+2T>C (n.5546+2T>C) c.5486+2T>C (n.5486+2T>C) c.5684+2T>C (n.5684+2T>C) c.5681+2T>C (n.5681+2T>C) | gnomAD v4 |
2 | g.71669209T>G | CA347223196 | DYSF | c.3056+2T>G (n.3056+2T>G) c.2273+2T>G (n.2273+2T>G) c.2381+2T>G (n.2381+2T>G) c.5525+2T>G (n.5525+2T>G) c.5642+2T>G (n.5642+2T>G) c.5528+2T>G (n.5528+2T>G) c.5591+2T>G (n.5591+2T>G) c.5639+2T>G (n.5639+2T>G) c.5621+2T>G (n.5621+2T>G) c.5549+2T>G (n.5549+2T>G) c.5576+2T>G (n.5576+2T>G) c.5579+2T>G (n.5579+2T>G) c.5618+2T>G (n.5618+2T>G) c.5588+2T>G (n.5588+2T>G) n.2410+2T>G c.5483+2T>G (n.5483+2T>G) c.5546+2T>G (n.5546+2T>G) c.5486+2T>G (n.5486+2T>G) c.5684+2T>G (n.5684+2T>G) c.5681+2T>G (n.5681+2T>G) | |
2 | g.71669209T= | CA1260152230 | DYSF | c.3056+2T= (n.3056+2T=) c.2273+2T= (n.2273+2T=) c.2381+2T= (n.2381+2T=) c.5525+2T= (n.5525+2T=) c.5642+2T= (n.5642+2T=) c.5528+2T= (n.5528+2T=) c.5591+2T= (n.5591+2T=) c.5639+2T= (n.5639+2T=) c.5621+2T= (n.5621+2T=) c.5549+2T= (n.5549+2T=) c.5576+2T= (n.5576+2T=) c.5579+2T= (n.5579+2T=) c.5618+2T= (n.5618+2T=) c.5588+2T= (n.5588+2T=) n.2410+2T= c.5483+2T= (n.5483+2T=) c.5546+2T= (n.5546+2T=) c.5486+2T= (n.5486+2T=) c.5684+2T= (n.5684+2T=) c.5681+2T= (n.5681+2T=) | |
2 | g.71669209dup | CA913090751 | DYSF | c.3056+2dup (n.3056+2dup) c.2273+2dup (n.2273+2dup) c.2381+2dup (n.2381+2dup) c.5525+2dup (n.5525+2dup) c.5642+2dup (n.5642+2dup) c.5528+2dup (n.5528+2dup) c.5591+2dup (n.5591+2dup) c.5639+2dup (n.5639+2dup) c.5621+2dup (n.5621+2dup) c.5549+2dup (n.5549+2dup) c.5576+2dup (n.5576+2dup) c.5579+2dup (n.5579+2dup) c.5618+2dup (n.5618+2dup) c.5588+2dup (n.5588+2dup) n.2410+2dup c.5483+2dup (n.5483+2dup) c.5546+2dup (n.5546+2dup) c.5486+2dup (n.5486+2dup) c.5684+2dup (n.5684+2dup) c.5681+2dup (n.5681+2dup) | |
2 | g.71669210del | CA2659555464 | DYSF | c.3056+3del (n.3056+3del) c.2273+3del (n.2273+3del) c.2381+3del (n.2381+3del) c.5525+3del (n.5525+3del) c.5642+3del (n.5642+3del) c.5528+3del (n.5528+3del) c.5591+3del (n.5591+3del) c.5639+3del (n.5639+3del) c.5621+3del (n.5621+3del) c.5549+3del (n.5549+3del) c.5576+3del (n.5576+3del) c.5579+3del (n.5579+3del) c.5618+3del (n.5618+3del) c.5588+3del (n.5588+3del) n.2410+3del c.5483+3del (n.5483+3del) c.5546+3del (n.5546+3del) c.5486+3del (n.5486+3del) c.5684+3del (n.5684+3del) c.5681+3del (n.5681+3del) | gnomAD v4 |
2 | g.71669210A= | CA1260152231 | DYSF | c.3056+3A= (n.3056+3A=) c.2273+3A= (n.2273+3A=) c.2381+3A= (n.2381+3A=) c.5525+3A= (n.5525+3A=) c.5642+3A= (n.5642+3A=) c.5528+3A= (n.5528+3A=) c.5591+3A= (n.5591+3A=) c.5639+3A= (n.5639+3A=) c.5621+3A= (n.5621+3A=) c.5549+3A= (n.5549+3A=) c.5576+3A= (n.5576+3A=) c.5579+3A= (n.5579+3A=) c.5618+3A= (n.5618+3A=) c.5588+3A= (n.5588+3A=) n.2410+3A= c.5483+3A= (n.5483+3A=) c.5546+3A= (n.5546+3A=) c.5486+3A= (n.5486+3A=) c.5684+3A= (n.5684+3A=) c.5681+3A= (n.5681+3A=) | |
2 | g.71669210A>G | CA1707452 | DYSF | c.3056+3A>G (n.3056+3A>G) c.2273+3A>G (n.2273+3A>G) c.2381+3A>G (n.2381+3A>G) c.5525+3A>G (n.5525+3A>G) c.5642+3A>G (n.5642+3A>G) c.5528+3A>G (n.5528+3A>G) c.5591+3A>G (n.5591+3A>G) c.5639+3A>G (n.5639+3A>G) c.5621+3A>G (n.5621+3A>G) c.5549+3A>G (n.5549+3A>G) c.5576+3A>G (n.5576+3A>G) c.5579+3A>G (n.5579+3A>G) c.5618+3A>G (n.5618+3A>G) c.5588+3A>G (n.5588+3A>G) n.2410+3A>G c.5483+3A>G (n.5483+3A>G) c.5546+3A>G (n.5546+3A>G) c.5486+3A>G (n.5486+3A>G) c.5684+3A>G (n.5684+3A>G) c.5681+3A>G (n.5681+3A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71669210dup | CA658821129 | DYSF | c.3056+3dup (n.3056+3dup) c.2273+3dup (n.2273+3dup) c.2381+3dup (n.2381+3dup) c.5525+3dup (n.5525+3dup) c.5642+3dup (n.5642+3dup) c.5528+3dup (n.5528+3dup) c.5591+3dup (n.5591+3dup) c.5639+3dup (n.5639+3dup) c.5621+3dup (n.5621+3dup) c.5549+3dup (n.5549+3dup) c.5576+3dup (n.5576+3dup) c.5579+3dup (n.5579+3dup) c.5618+3dup (n.5618+3dup) c.5588+3dup (n.5588+3dup) n.2410+3dup c.5483+3dup (n.5483+3dup) c.5546+3dup (n.5546+3dup) c.5486+3dup (n.5486+3dup) c.5684+3dup (n.5684+3dup) c.5681+3dup (n.5681+3dup) | ClinVar dbSNP gnomAD v4 |
2 | g.71669211G>A | CA533264710 | DYSF | c.3056+4G>A (n.3056+4G>A) c.2273+4G>A (n.2273+4G>A) c.2381+4G>A (n.2381+4G>A) c.5525+4G>A (n.5525+4G>A) c.5642+4G>A (n.5642+4G>A) c.5528+4G>A (n.5528+4G>A) c.5591+4G>A (n.5591+4G>A) c.5639+4G>A (n.5639+4G>A) c.5621+4G>A (n.5621+4G>A) c.5549+4G>A (n.5549+4G>A) c.5576+4G>A (n.5576+4G>A) c.5579+4G>A (n.5579+4G>A) c.5618+4G>A (n.5618+4G>A) c.5588+4G>A (n.5588+4G>A) n.2410+4G>A c.5483+4G>A (n.5483+4G>A) c.5546+4G>A (n.5546+4G>A) c.5486+4G>A (n.5486+4G>A) c.5684+4G>A (n.5684+4G>A) c.5681+4G>A (n.5681+4G>A) | dbSNP gnomAD v2 |
2 | g.71669211G= | CA1260152232 | DYSF | c.3056+4G= (n.3056+4G=) c.2273+4G= (n.2273+4G=) c.2381+4G= (n.2381+4G=) c.5525+4G= (n.5525+4G=) c.5642+4G= (n.5642+4G=) c.5528+4G= (n.5528+4G=) c.5591+4G= (n.5591+4G=) c.5639+4G= (n.5639+4G=) c.5621+4G= (n.5621+4G=) c.5549+4G= (n.5549+4G=) c.5576+4G= (n.5576+4G=) c.5579+4G= (n.5579+4G=) c.5618+4G= (n.5618+4G=) c.5588+4G= (n.5588+4G=) n.2410+4G= c.5483+4G= (n.5483+4G=) c.5546+4G= (n.5546+4G=) c.5486+4G= (n.5486+4G=) c.5684+4G= (n.5684+4G=) c.5681+4G= (n.5681+4G=) | |
2 | g.71669212G>A | CA533264711 | DYSF | c.3056+5G>A (n.3056+5G>A) c.2273+5G>A (n.2273+5G>A) c.2381+5G>A (n.2381+5G>A) c.5525+5G>A (n.5525+5G>A) c.5642+5G>A (n.5642+5G>A) c.5528+5G>A (n.5528+5G>A) c.5591+5G>A (n.5591+5G>A) c.5639+5G>A (n.5639+5G>A) c.5621+5G>A (n.5621+5G>A) c.5549+5G>A (n.5549+5G>A) c.5576+5G>A (n.5576+5G>A) c.5579+5G>A (n.5579+5G>A) c.5618+5G>A (n.5618+5G>A) c.5588+5G>A (n.5588+5G>A) n.2410+5G>A c.5483+5G>A (n.5483+5G>A) c.5546+5G>A (n.5546+5G>A) c.5486+5G>A (n.5486+5G>A) c.5684+5G>A (n.5684+5G>A) c.5681+5G>A (n.5681+5G>A) | dbSNP gnomAD v2 |
2 | g.71669212G= | CA1260152233 | DYSF | c.3056+5G= (n.3056+5G=) c.2273+5G= (n.2273+5G=) c.2381+5G= (n.2381+5G=) c.5525+5G= (n.5525+5G=) c.5642+5G= (n.5642+5G=) c.5528+5G= (n.5528+5G=) c.5591+5G= (n.5591+5G=) c.5639+5G= (n.5639+5G=) c.5621+5G= (n.5621+5G=) c.5549+5G= (n.5549+5G=) c.5576+5G= (n.5576+5G=) c.5579+5G= (n.5579+5G=) c.5618+5G= (n.5618+5G=) c.5588+5G= (n.5588+5G=) n.2410+5G= c.5483+5G= (n.5483+5G=) c.5546+5G= (n.5546+5G=) c.5486+5G= (n.5486+5G=) c.5684+5G= (n.5684+5G=) c.5681+5G= (n.5681+5G=) | |
2 | g.71669212G>T | CA645530574 | DYSF | c.3056+5G>T (n.3056+5G>T) c.2273+5G>T (n.2273+5G>T) c.2381+5G>T (n.2381+5G>T) c.5525+5G>T (n.5525+5G>T) c.5642+5G>T (n.5642+5G>T) c.5528+5G>T (n.5528+5G>T) c.5591+5G>T (n.5591+5G>T) c.5639+5G>T (n.5639+5G>T) c.5621+5G>T (n.5621+5G>T) c.5549+5G>T (n.5549+5G>T) c.5576+5G>T (n.5576+5G>T) c.5579+5G>T (n.5579+5G>T) c.5618+5G>T (n.5618+5G>T) c.5588+5G>T (n.5588+5G>T) n.2410+5G>T c.5483+5G>T (n.5483+5G>T) c.5546+5G>T (n.5546+5G>T) c.5486+5G>T (n.5486+5G>T) c.5684+5G>T (n.5684+5G>T) c.5681+5G>T (n.5681+5G>T) | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.71669213G>A | CA426704464 | DYSF | c.3056+6G>A (n.3056+6G>A) c.2273+6G>A (n.2273+6G>A) c.2381+6G>A (n.2381+6G>A) c.5525+6G>A (n.5525+6G>A) c.5642+6G>A (n.5642+6G>A) c.5528+6G>A (n.5528+6G>A) c.5591+6G>A (n.5591+6G>A) c.5639+6G>A (n.5639+6G>A) c.5621+6G>A (n.5621+6G>A) c.5549+6G>A (n.5549+6G>A) c.5576+6G>A (n.5576+6G>A) c.5579+6G>A (n.5579+6G>A) c.5618+6G>A (n.5618+6G>A) c.5588+6G>A (n.5588+6G>A) n.2410+6G>A c.5483+6G>A (n.5483+6G>A) c.5546+6G>A (n.5546+6G>A) c.5486+6G>A (n.5486+6G>A) c.5684+6G>A (n.5684+6G>A) c.5681+6G>A (n.5681+6G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71669213G= | CA1260152234 | DYSF | c.3056+6G= (n.3056+6G=) c.2273+6G= (n.2273+6G=) c.2381+6G= (n.2381+6G=) c.5525+6G= (n.5525+6G=) c.5642+6G= (n.5642+6G=) c.5528+6G= (n.5528+6G=) c.5591+6G= (n.5591+6G=) c.5639+6G= (n.5639+6G=) c.5621+6G= (n.5621+6G=) c.5549+6G= (n.5549+6G=) c.5576+6G= (n.5576+6G=) c.5579+6G= (n.5579+6G=) c.5618+6G= (n.5618+6G=) c.5588+6G= (n.5588+6G=) n.2410+6G= c.5483+6G= (n.5483+6G=) c.5546+6G= (n.5546+6G=) c.5486+6G= (n.5486+6G=) c.5684+6G= (n.5684+6G=) c.5681+6G= (n.5681+6G=) | |
2 | g.71669213G>T | CA2659555465 | DYSF | c.3056+6G>T (n.3056+6G>T) c.2273+6G>T (n.2273+6G>T) c.2381+6G>T (n.2381+6G>T) c.5525+6G>T (n.5525+6G>T) c.5642+6G>T (n.5642+6G>T) c.5528+6G>T (n.5528+6G>T) c.5591+6G>T (n.5591+6G>T) c.5639+6G>T (n.5639+6G>T) c.5621+6G>T (n.5621+6G>T) c.5549+6G>T (n.5549+6G>T) c.5576+6G>T (n.5576+6G>T) c.5579+6G>T (n.5579+6G>T) c.5618+6G>T (n.5618+6G>T) c.5588+6G>T (n.5588+6G>T) n.2410+6G>T c.5483+6G>T (n.5483+6G>T) c.5546+6G>T (n.5546+6G>T) c.5486+6G>T (n.5486+6G>T) c.5684+6G>T (n.5684+6G>T) c.5681+6G>T (n.5681+6G>T) | gnomAD v4 |
2 | g.71669215G>A | CA2659555466 | DYSF | c.3056+8G>A (n.3056+8G>A) c.2273+8G>A (n.2273+8G>A) c.2381+8G>A (n.2381+8G>A) c.5525+8G>A (n.5525+8G>A) c.5642+8G>A (n.5642+8G>A) c.5528+8G>A (n.5528+8G>A) c.5591+8G>A (n.5591+8G>A) c.5639+8G>A (n.5639+8G>A) c.5621+8G>A (n.5621+8G>A) c.5549+8G>A (n.5549+8G>A) c.5576+8G>A (n.5576+8G>A) c.5579+8G>A (n.5579+8G>A) c.5618+8G>A (n.5618+8G>A) c.5588+8G>A (n.5588+8G>A) n.2410+8G>A c.5483+8G>A (n.5483+8G>A) c.5546+8G>A (n.5546+8G>A) c.5486+8G>A (n.5486+8G>A) c.5684+8G>A (n.5684+8G>A) c.5681+8G>A (n.5681+8G>A) | gnomAD v4 |
2 | g.71669216C>A | CA2659555467 | DYSF | c.3056+9C>A (n.3056+9C>A) c.2273+9C>A (n.2273+9C>A) c.2381+9C>A (n.2381+9C>A) c.5525+9C>A (n.5525+9C>A) c.5642+9C>A (n.5642+9C>A) c.5528+9C>A (n.5528+9C>A) c.5591+9C>A (n.5591+9C>A) c.5639+9C>A (n.5639+9C>A) c.5621+9C>A (n.5621+9C>A) c.5549+9C>A (n.5549+9C>A) c.5576+9C>A (n.5576+9C>A) c.5579+9C>A (n.5579+9C>A) c.5618+9C>A (n.5618+9C>A) c.5588+9C>A (n.5588+9C>A) n.2410+9C>A c.5483+9C>A (n.5483+9C>A) c.5546+9C>A (n.5546+9C>A) c.5486+9C>A (n.5486+9C>A) c.5684+9C>A (n.5684+9C>A) c.5681+9C>A (n.5681+9C>A) | gnomAD v4 |
2 | g.71669216C>T | CA2659555468 | DYSF | c.3056+9C>T (n.3056+9C>T) c.2273+9C>T (n.2273+9C>T) c.2381+9C>T (n.2381+9C>T) c.5525+9C>T (n.5525+9C>T) c.5642+9C>T (n.5642+9C>T) c.5528+9C>T (n.5528+9C>T) c.5591+9C>T (n.5591+9C>T) c.5639+9C>T (n.5639+9C>T) c.5621+9C>T (n.5621+9C>T) c.5549+9C>T (n.5549+9C>T) c.5576+9C>T (n.5576+9C>T) c.5579+9C>T (n.5579+9C>T) c.5618+9C>T (n.5618+9C>T) c.5588+9C>T (n.5588+9C>T) n.2410+9C>T c.5483+9C>T (n.5483+9C>T) c.5546+9C>T (n.5546+9C>T) c.5486+9C>T (n.5486+9C>T) c.5684+9C>T (n.5684+9C>T) c.5681+9C>T (n.5681+9C>T) | gnomAD v4 |
2 | g.71669217C>A | CA2659555469 | DYSF | c.3056+10C>A (n.3056+10C>A) c.2273+10C>A (n.2273+10C>A) c.2381+10C>A (n.2381+10C>A) c.5525+10C>A (n.5525+10C>A) c.5642+10C>A (n.5642+10C>A) c.5528+10C>A (n.5528+10C>A) c.5591+10C>A (n.5591+10C>A) c.5639+10C>A (n.5639+10C>A) c.5621+10C>A (n.5621+10C>A) c.5549+10C>A (n.5549+10C>A) c.5576+10C>A (n.5576+10C>A) c.5579+10C>A (n.5579+10C>A) c.5618+10C>A (n.5618+10C>A) c.5588+10C>A (n.5588+10C>A) n.2410+10C>A c.5483+10C>A (n.5483+10C>A) c.5546+10C>A (n.5546+10C>A) c.5486+10C>A (n.5486+10C>A) c.5684+10C>A (n.5684+10C>A) c.5681+10C>A (n.5681+10C>A) | gnomAD v4 |
2 | g.71669217C>G | CA2659555470 | DYSF | c.3056+10C>G (n.3056+10C>G) c.2273+10C>G (n.2273+10C>G) c.2381+10C>G (n.2381+10C>G) c.5525+10C>G (n.5525+10C>G) c.5642+10C>G (n.5642+10C>G) c.5528+10C>G (n.5528+10C>G) c.5591+10C>G (n.5591+10C>G) c.5639+10C>G (n.5639+10C>G) c.5621+10C>G (n.5621+10C>G) c.5549+10C>G (n.5549+10C>G) c.5576+10C>G (n.5576+10C>G) c.5579+10C>G (n.5579+10C>G) c.5618+10C>G (n.5618+10C>G) c.5588+10C>G (n.5588+10C>G) n.2410+10C>G c.5483+10C>G (n.5483+10C>G) c.5546+10C>G (n.5546+10C>G) c.5486+10C>G (n.5486+10C>G) c.5684+10C>G (n.5684+10C>G) c.5681+10C>G (n.5681+10C>G) | gnomAD v4 |
2 | g.71669218_71669250del | CA2659555471 | DYSF | c.3056+11_3056+43del (n.3056+11_3056+43del) c.2273+11_2273+43del (n.2273+11_2273+43del) c.2381+11_2381+43del (n.2381+11_2381+43del) c.5525+11_5525+43del (n.5525+11_5525+43del) c.5642+11_5642+43del (n.5642+11_5642+43del) c.5528+11_5528+43del (n.5528+11_5528+43del) c.5591+11_5591+43del (n.5591+11_5591+43del) c.5639+11_5639+43del (n.5639+11_5639+43del) c.5621+11_5621+43del (n.5621+11_5621+43del) c.5549+11_5549+43del (n.5549+11_5549+43del) c.5576+11_5576+43del (n.5576+11_5576+43del) c.5579+11_5579+43del (n.5579+11_5579+43del) c.5618+11_5618+43del (n.5618+11_5618+43del) c.5588+11_5588+43del (n.5588+11_5588+43del) n.2410+11_2410+43del c.5483+11_5483+43del (n.5483+11_5483+43del) c.5546+11_5546+43del (n.5546+11_5546+43del) c.5486+11_5486+43del (n.5486+11_5486+43del) c.5684+11_5684+43del (n.5684+11_5684+43del) c.5681+11_5681+43del (n.5681+11_5681+43del) | gnomAD v4 |
2 | g.71669219G>A | CA2577000808 | DYSF | c.3056+12G>A (n.3056+12G>A) c.2273+12G>A (n.2273+12G>A) c.2381+12G>A (n.2381+12G>A) c.5525+12G>A (n.5525+12G>A) c.5642+12G>A (n.5642+12G>A) c.5528+12G>A (n.5528+12G>A) c.5591+12G>A (n.5591+12G>A) c.5639+12G>A (n.5639+12G>A) c.5621+12G>A (n.5621+12G>A) c.5549+12G>A (n.5549+12G>A) c.5576+12G>A (n.5576+12G>A) c.5579+12G>A (n.5579+12G>A) c.5618+12G>A (n.5618+12G>A) c.5588+12G>A (n.5588+12G>A) n.2410+12G>A c.5483+12G>A (n.5483+12G>A) c.5546+12G>A (n.5546+12G>A) c.5486+12G>A (n.5486+12G>A) c.5684+12G>A (n.5684+12G>A) c.5681+12G>A (n.5681+12G>A) | gnomAD v4 |
2 | g.71669219G>C | CA2577000809 | DYSF | c.3056+12G>C (n.3056+12G>C) c.2273+12G>C (n.2273+12G>C) c.2381+12G>C (n.2381+12G>C) c.5525+12G>C (n.5525+12G>C) c.5642+12G>C (n.5642+12G>C) c.5528+12G>C (n.5528+12G>C) c.5591+12G>C (n.5591+12G>C) c.5639+12G>C (n.5639+12G>C) c.5621+12G>C (n.5621+12G>C) c.5549+12G>C (n.5549+12G>C) c.5576+12G>C (n.5576+12G>C) c.5579+12G>C (n.5579+12G>C) c.5618+12G>C (n.5618+12G>C) c.5588+12G>C (n.5588+12G>C) n.2410+12G>C c.5483+12G>C (n.5483+12G>C) c.5546+12G>C (n.5546+12G>C) c.5486+12G>C (n.5486+12G>C) c.5684+12G>C (n.5684+12G>C) c.5681+12G>C (n.5681+12G>C) | |
2 | g.71669219G>T | CA2659555472 | DYSF | c.3056+12G>T (n.3056+12G>T) c.2273+12G>T (n.2273+12G>T) c.2381+12G>T (n.2381+12G>T) c.5525+12G>T (n.5525+12G>T) c.5642+12G>T (n.5642+12G>T) c.5528+12G>T (n.5528+12G>T) c.5591+12G>T (n.5591+12G>T) c.5639+12G>T (n.5639+12G>T) c.5621+12G>T (n.5621+12G>T) c.5549+12G>T (n.5549+12G>T) c.5576+12G>T (n.5576+12G>T) c.5579+12G>T (n.5579+12G>T) c.5618+12G>T (n.5618+12G>T) c.5588+12G>T (n.5588+12G>T) n.2410+12G>T c.5483+12G>T (n.5483+12G>T) c.5546+12G>T (n.5546+12G>T) c.5486+12G>T (n.5486+12G>T) c.5684+12G>T (n.5684+12G>T) c.5681+12G>T (n.5681+12G>T) | gnomAD v4 |
2 | g.71669220C>A | CA2659555473 | DYSF | c.3056+13C>A (n.3056+13C>A) c.2273+13C>A (n.2273+13C>A) c.2381+13C>A (n.2381+13C>A) c.5525+13C>A (n.5525+13C>A) c.5642+13C>A (n.5642+13C>A) c.5528+13C>A (n.5528+13C>A) c.5591+13C>A (n.5591+13C>A) c.5639+13C>A (n.5639+13C>A) c.5621+13C>A (n.5621+13C>A) c.5549+13C>A (n.5549+13C>A) c.5576+13C>A (n.5576+13C>A) c.5579+13C>A (n.5579+13C>A) c.5618+13C>A (n.5618+13C>A) c.5588+13C>A (n.5588+13C>A) n.2410+13C>A c.5483+13C>A (n.5483+13C>A) c.5546+13C>A (n.5546+13C>A) c.5486+13C>A (n.5486+13C>A) c.5684+13C>A (n.5684+13C>A) c.5681+13C>A (n.5681+13C>A) | gnomAD v4 |
2 | g.71669220C= | CA1260152235 | DYSF | c.3056+13C= (n.3056+13C=) c.2273+13C= (n.2273+13C=) c.2381+13C= (n.2381+13C=) c.5525+13C= (n.5525+13C=) c.5642+13C= (n.5642+13C=) c.5528+13C= (n.5528+13C=) c.5591+13C= (n.5591+13C=) c.5639+13C= (n.5639+13C=) c.5621+13C= (n.5621+13C=) c.5549+13C= (n.5549+13C=) c.5576+13C= (n.5576+13C=) c.5579+13C= (n.5579+13C=) c.5618+13C= (n.5618+13C=) c.5588+13C= (n.5588+13C=) n.2410+13C= c.5483+13C= (n.5483+13C=) c.5546+13C= (n.5546+13C=) c.5486+13C= (n.5486+13C=) c.5684+13C= (n.5684+13C=) c.5681+13C= (n.5681+13C=) | |
2 | g.71669220C>T | CA1707453 | DYSF | c.3056+13C>T (n.3056+13C>T) c.2273+13C>T (n.2273+13C>T) c.2381+13C>T (n.2381+13C>T) c.5525+13C>T (n.5525+13C>T) c.5642+13C>T (n.5642+13C>T) c.5528+13C>T (n.5528+13C>T) c.5591+13C>T (n.5591+13C>T) c.5639+13C>T (n.5639+13C>T) c.5621+13C>T (n.5621+13C>T) c.5549+13C>T (n.5549+13C>T) c.5576+13C>T (n.5576+13C>T) c.5579+13C>T (n.5579+13C>T) c.5618+13C>T (n.5618+13C>T) c.5588+13C>T (n.5588+13C>T) n.2410+13C>T c.5483+13C>T (n.5483+13C>T) c.5546+13C>T (n.5546+13C>T) c.5486+13C>T (n.5486+13C>T) c.5684+13C>T (n.5684+13C>T) c.5681+13C>T (n.5681+13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.71669221G>A | CA1707454 | DYSF | c.3056+14G>A (n.3056+14G>A) c.2273+14G>A (n.2273+14G>A) c.2381+14G>A (n.2381+14G>A) c.5525+14G>A (n.5525+14G>A) c.5642+14G>A (n.5642+14G>A) c.5528+14G>A (n.5528+14G>A) c.5591+14G>A (n.5591+14G>A) c.5639+14G>A (n.5639+14G>A) c.5621+14G>A (n.5621+14G>A) c.5549+14G>A (n.5549+14G>A) c.5576+14G>A (n.5576+14G>A) c.5579+14G>A (n.5579+14G>A) c.5618+14G>A (n.5618+14G>A) c.5588+14G>A (n.5588+14G>A) n.2410+14G>A c.5483+14G>A (n.5483+14G>A) c.5546+14G>A (n.5546+14G>A) c.5486+14G>A (n.5486+14G>A) c.5684+14G>A (n.5684+14G>A) c.5681+14G>A (n.5681+14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71669221G>C | CA1707455 | DYSF | c.3056+14G>C (n.3056+14G>C) c.2273+14G>C (n.2273+14G>C) c.2381+14G>C (n.2381+14G>C) c.5525+14G>C (n.5525+14G>C) c.5642+14G>C (n.5642+14G>C) c.5528+14G>C (n.5528+14G>C) c.5591+14G>C (n.5591+14G>C) c.5639+14G>C (n.5639+14G>C) c.5621+14G>C (n.5621+14G>C) c.5549+14G>C (n.5549+14G>C) c.5576+14G>C (n.5576+14G>C) c.5579+14G>C (n.5579+14G>C) c.5618+14G>C (n.5618+14G>C) c.5588+14G>C (n.5588+14G>C) n.2410+14G>C c.5483+14G>C (n.5483+14G>C) c.5546+14G>C (n.5546+14G>C) c.5486+14G>C (n.5486+14G>C) c.5684+14G>C (n.5684+14G>C) c.5681+14G>C (n.5681+14G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71669221G= | CA1260152236 | DYSF | c.3056+14G= (n.3056+14G=) c.2273+14G= (n.2273+14G=) c.2381+14G= (n.2381+14G=) c.5525+14G= (n.5525+14G=) c.5642+14G= (n.5642+14G=) c.5528+14G= (n.5528+14G=) c.5591+14G= (n.5591+14G=) c.5639+14G= (n.5639+14G=) c.5621+14G= (n.5621+14G=) c.5549+14G= (n.5549+14G=) c.5576+14G= (n.5576+14G=) c.5579+14G= (n.5579+14G=) c.5618+14G= (n.5618+14G=) c.5588+14G= (n.5588+14G=) n.2410+14G= c.5483+14G= (n.5483+14G=) c.5546+14G= (n.5546+14G=) c.5486+14G= (n.5486+14G=) c.5684+14G= (n.5684+14G=) c.5681+14G= (n.5681+14G=) | |
2 | g.71669221G>T | CA2659555474 | DYSF | c.3056+14G>T (n.3056+14G>T) c.2273+14G>T (n.2273+14G>T) c.2381+14G>T (n.2381+14G>T) c.5525+14G>T (n.5525+14G>T) c.5642+14G>T (n.5642+14G>T) c.5528+14G>T (n.5528+14G>T) c.5591+14G>T (n.5591+14G>T) c.5639+14G>T (n.5639+14G>T) c.5621+14G>T (n.5621+14G>T) c.5549+14G>T (n.5549+14G>T) c.5576+14G>T (n.5576+14G>T) c.5579+14G>T (n.5579+14G>T) c.5618+14G>T (n.5618+14G>T) c.5588+14G>T (n.5588+14G>T) n.2410+14G>T c.5483+14G>T (n.5483+14G>T) c.5546+14G>T (n.5546+14G>T) c.5486+14G>T (n.5486+14G>T) c.5684+14G>T (n.5684+14G>T) c.5681+14G>T (n.5681+14G>T) | gnomAD v4 |
2 | g.71669222T>C | CA2659555475 | DYSF | c.3056+15T>C (n.3056+15T>C) c.2273+15T>C (n.2273+15T>C) c.2381+15T>C (n.2381+15T>C) c.5525+15T>C (n.5525+15T>C) c.5642+15T>C (n.5642+15T>C) c.5528+15T>C (n.5528+15T>C) c.5591+15T>C (n.5591+15T>C) c.5639+15T>C (n.5639+15T>C) c.5621+15T>C (n.5621+15T>C) c.5549+15T>C (n.5549+15T>C) c.5576+15T>C (n.5576+15T>C) c.5579+15T>C (n.5579+15T>C) c.5618+15T>C (n.5618+15T>C) c.5588+15T>C (n.5588+15T>C) n.2410+15T>C c.5483+15T>C (n.5483+15T>C) c.5546+15T>C (n.5546+15T>C) c.5486+15T>C (n.5486+15T>C) c.5684+15T>C (n.5684+15T>C) c.5681+15T>C (n.5681+15T>C) | gnomAD v4 |
2 | g.71669222dup | CA2659555476 | DYSF | c.3056+15dup (n.3056+15dup) c.2273+15dup (n.2273+15dup) c.2381+15dup (n.2381+15dup) c.5525+15dup (n.5525+15dup) c.5642+15dup (n.5642+15dup) c.5528+15dup (n.5528+15dup) c.5591+15dup (n.5591+15dup) c.5639+15dup (n.5639+15dup) c.5621+15dup (n.5621+15dup) c.5549+15dup (n.5549+15dup) c.5576+15dup (n.5576+15dup) c.5579+15dup (n.5579+15dup) c.5618+15dup (n.5618+15dup) c.5588+15dup (n.5588+15dup) n.2410+15dup c.5483+15dup (n.5483+15dup) c.5546+15dup (n.5546+15dup) c.5486+15dup (n.5486+15dup) c.5684+15dup (n.5684+15dup) c.5681+15dup (n.5681+15dup) | gnomAD v4 |
2 | g.71669223C>A | CA2659555477 | DYSF | c.3056+16C>A (n.3056+16C>A) c.2273+16C>A (n.2273+16C>A) c.2381+16C>A (n.2381+16C>A) c.5525+16C>A (n.5525+16C>A) c.5642+16C>A (n.5642+16C>A) c.5528+16C>A (n.5528+16C>A) c.5591+16C>A (n.5591+16C>A) c.5639+16C>A (n.5639+16C>A) c.5621+16C>A (n.5621+16C>A) c.5549+16C>A (n.5549+16C>A) c.5576+16C>A (n.5576+16C>A) c.5579+16C>A (n.5579+16C>A) c.5618+16C>A (n.5618+16C>A) c.5588+16C>A (n.5588+16C>A) n.2410+16C>A c.5483+16C>A (n.5483+16C>A) c.5546+16C>A (n.5546+16C>A) c.5486+16C>A (n.5486+16C>A) c.5684+16C>A (n.5684+16C>A) c.5681+16C>A (n.5681+16C>A) | gnomAD v4 |
2 | g.71669223C= | CA1260152237 | DYSF | c.3056+16C= (n.3056+16C=) c.2273+16C= (n.2273+16C=) c.2381+16C= (n.2381+16C=) c.5525+16C= (n.5525+16C=) c.5642+16C= (n.5642+16C=) c.5528+16C= (n.5528+16C=) c.5591+16C= (n.5591+16C=) c.5639+16C= (n.5639+16C=) c.5621+16C= (n.5621+16C=) c.5549+16C= (n.5549+16C=) c.5576+16C= (n.5576+16C=) c.5579+16C= (n.5579+16C=) c.5618+16C= (n.5618+16C=) c.5588+16C= (n.5588+16C=) n.2410+16C= c.5483+16C= (n.5483+16C=) c.5546+16C= (n.5546+16C=) c.5486+16C= (n.5486+16C=) c.5684+16C= (n.5684+16C=) c.5681+16C= (n.5681+16C=) | |
2 | g.71669223C>T | CA533264713 | DYSF | c.3056+16C>T (n.3056+16C>T) c.2273+16C>T (n.2273+16C>T) c.2381+16C>T (n.2381+16C>T) c.5525+16C>T (n.5525+16C>T) c.5642+16C>T (n.5642+16C>T) c.5528+16C>T (n.5528+16C>T) c.5591+16C>T (n.5591+16C>T) c.5639+16C>T (n.5639+16C>T) c.5621+16C>T (n.5621+16C>T) c.5549+16C>T (n.5549+16C>T) c.5576+16C>T (n.5576+16C>T) c.5579+16C>T (n.5579+16C>T) c.5618+16C>T (n.5618+16C>T) c.5588+16C>T (n.5588+16C>T) n.2410+16C>T c.5483+16C>T (n.5483+16C>T) c.5546+16C>T (n.5546+16C>T) c.5486+16C>T (n.5486+16C>T) c.5684+16C>T (n.5684+16C>T) c.5681+16C>T (n.5681+16C>T) | ClinVar dbSNP gnomAD v2 |
2 | g.71669224del | CA2577000810 | DYSF | c.3056+17del (n.3056+17del) c.2273+17del (n.2273+17del) c.2381+17del (n.2381+17del) c.5525+17del (n.5525+17del) c.5642+17del (n.5642+17del) c.5528+17del (n.5528+17del) c.5591+17del (n.5591+17del) c.5639+17del (n.5639+17del) c.5621+17del (n.5621+17del) c.5549+17del (n.5549+17del) c.5576+17del (n.5576+17del) c.5579+17del (n.5579+17del) c.5618+17del (n.5618+17del) c.5588+17del (n.5588+17del) n.2410+17del c.5483+17del (n.5483+17del) c.5546+17del (n.5546+17del) c.5486+17del (n.5486+17del) c.5684+17del (n.5684+17del) c.5681+17del (n.5681+17del) | |
2 | g.71669224C>A | CA2577000811 | DYSF | c.3056+17C>A (n.3056+17C>A) c.2273+17C>A (n.2273+17C>A) c.2381+17C>A (n.2381+17C>A) c.5525+17C>A (n.5525+17C>A) c.5642+17C>A (n.5642+17C>A) c.5528+17C>A (n.5528+17C>A) c.5591+17C>A (n.5591+17C>A) c.5639+17C>A (n.5639+17C>A) c.5621+17C>A (n.5621+17C>A) c.5549+17C>A (n.5549+17C>A) c.5576+17C>A (n.5576+17C>A) c.5579+17C>A (n.5579+17C>A) c.5618+17C>A (n.5618+17C>A) c.5588+17C>A (n.5588+17C>A) n.2410+17C>A c.5483+17C>A (n.5483+17C>A) c.5546+17C>A (n.5546+17C>A) c.5486+17C>A (n.5486+17C>A) c.5684+17C>A (n.5684+17C>A) c.5681+17C>A (n.5681+17C>A) | ClinVar gnomAD v4 |
2 | g.71669224C= | CA1260152238 | DYSF | c.3056+17C= (n.3056+17C=) c.2273+17C= (n.2273+17C=) c.2381+17C= (n.2381+17C=) c.5525+17C= (n.5525+17C=) c.5642+17C= (n.5642+17C=) c.5528+17C= (n.5528+17C=) c.5591+17C= (n.5591+17C=) c.5639+17C= (n.5639+17C=) c.5621+17C= (n.5621+17C=) c.5549+17C= (n.5549+17C=) c.5576+17C= (n.5576+17C=) c.5579+17C= (n.5579+17C=) c.5618+17C= (n.5618+17C=) c.5588+17C= (n.5588+17C=) n.2410+17C= c.5483+17C= (n.5483+17C=) c.5546+17C= (n.5546+17C=) c.5486+17C= (n.5486+17C=) c.5684+17C= (n.5684+17C=) c.5681+17C= (n.5681+17C=) | |
2 | g.71669224C>T | CA1707456 | DYSF | c.3056+17C>T (n.3056+17C>T) c.2273+17C>T (n.2273+17C>T) c.2381+17C>T (n.2381+17C>T) c.5525+17C>T (n.5525+17C>T) c.5642+17C>T (n.5642+17C>T) c.5528+17C>T (n.5528+17C>T) c.5591+17C>T (n.5591+17C>T) c.5639+17C>T (n.5639+17C>T) c.5621+17C>T (n.5621+17C>T) c.5549+17C>T (n.5549+17C>T) c.5576+17C>T (n.5576+17C>T) c.5579+17C>T (n.5579+17C>T) c.5618+17C>T (n.5618+17C>T) c.5588+17C>T (n.5588+17C>T) n.2410+17C>T c.5483+17C>T (n.5483+17C>T) c.5546+17C>T (n.5546+17C>T) c.5486+17C>T (n.5486+17C>T) c.5684+17C>T (n.5684+17C>T) c.5681+17C>T (n.5681+17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71669226C>A | CA2659555478 | DYSF | c.3056+19C>A (n.3056+19C>A) c.2273+19C>A (n.2273+19C>A) c.2381+19C>A (n.2381+19C>A) c.5525+19C>A (n.5525+19C>A) c.5642+19C>A (n.5642+19C>A) c.5528+19C>A (n.5528+19C>A) c.5591+19C>A (n.5591+19C>A) c.5639+19C>A (n.5639+19C>A) c.5621+19C>A (n.5621+19C>A) c.5549+19C>A (n.5549+19C>A) c.5576+19C>A (n.5576+19C>A) c.5579+19C>A (n.5579+19C>A) c.5618+19C>A (n.5618+19C>A) c.5588+19C>A (n.5588+19C>A) n.2410+19C>A c.5483+19C>A (n.5483+19C>A) c.5546+19C>A (n.5546+19C>A) c.5486+19C>A (n.5486+19C>A) c.5684+19C>A (n.5684+19C>A) c.5681+19C>A (n.5681+19C>A) | gnomAD v4 |
2 | g.71669226C= | CA1260152239 | DYSF | c.3056+19C= (n.3056+19C=) c.2273+19C= (n.2273+19C=) c.2381+19C= (n.2381+19C=) c.5525+19C= (n.5525+19C=) c.5642+19C= (n.5642+19C=) c.5528+19C= (n.5528+19C=) c.5591+19C= (n.5591+19C=) c.5639+19C= (n.5639+19C=) c.5621+19C= (n.5621+19C=) c.5549+19C= (n.5549+19C=) c.5576+19C= (n.5576+19C=) c.5579+19C= (n.5579+19C=) c.5618+19C= (n.5618+19C=) c.5588+19C= (n.5588+19C=) n.2410+19C= c.5483+19C= (n.5483+19C=) c.5546+19C= (n.5546+19C=) c.5486+19C= (n.5486+19C=) c.5684+19C= (n.5684+19C=) c.5681+19C= (n.5681+19C=) | |
2 | g.71669226C>T | CA1707457 | DYSF | c.3056+19C>T (n.3056+19C>T) c.2273+19C>T (n.2273+19C>T) c.2381+19C>T (n.2381+19C>T) c.5525+19C>T (n.5525+19C>T) c.5642+19C>T (n.5642+19C>T) c.5528+19C>T (n.5528+19C>T) c.5591+19C>T (n.5591+19C>T) c.5639+19C>T (n.5639+19C>T) c.5621+19C>T (n.5621+19C>T) c.5549+19C>T (n.5549+19C>T) c.5576+19C>T (n.5576+19C>T) c.5579+19C>T (n.5579+19C>T) c.5618+19C>T (n.5618+19C>T) c.5588+19C>T (n.5588+19C>T) n.2410+19C>T c.5483+19C>T (n.5483+19C>T) c.5546+19C>T (n.5546+19C>T) c.5486+19C>T (n.5486+19C>T) c.5684+19C>T (n.5684+19C>T) c.5681+19C>T (n.5681+19C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71669228T>A | CA2659555479 | DYSF | c.3056+21T>A (n.3056+21T>A) c.2273+21T>A (n.2273+21T>A) c.2381+21T>A (n.2381+21T>A) c.5525+21T>A (n.5525+21T>A) c.5642+21T>A (n.5642+21T>A) c.5528+21T>A (n.5528+21T>A) c.5591+21T>A (n.5591+21T>A) c.5639+21T>A (n.5639+21T>A) c.5621+21T>A (n.5621+21T>A) c.5549+21T>A (n.5549+21T>A) c.5576+21T>A (n.5576+21T>A) c.5579+21T>A (n.5579+21T>A) c.5618+21T>A (n.5618+21T>A) c.5588+21T>A (n.5588+21T>A) n.2410+21T>A c.5483+21T>A (n.5483+21T>A) c.5546+21T>A (n.5546+21T>A) c.5486+21T>A (n.5486+21T>A) c.5684+21T>A (n.5684+21T>A) c.5681+21T>A (n.5681+21T>A) | gnomAD v4 |
2 | g.71669228T>C | CA533264715 | DYSF | c.3056+21T>C (n.3056+21T>C) c.2273+21T>C (n.2273+21T>C) c.2381+21T>C (n.2381+21T>C) c.5525+21T>C (n.5525+21T>C) c.5642+21T>C (n.5642+21T>C) c.5528+21T>C (n.5528+21T>C) c.5591+21T>C (n.5591+21T>C) c.5639+21T>C (n.5639+21T>C) c.5621+21T>C (n.5621+21T>C) c.5549+21T>C (n.5549+21T>C) c.5576+21T>C (n.5576+21T>C) c.5579+21T>C (n.5579+21T>C) c.5618+21T>C (n.5618+21T>C) c.5588+21T>C (n.5588+21T>C) n.2410+21T>C c.5483+21T>C (n.5483+21T>C) c.5546+21T>C (n.5546+21T>C) c.5486+21T>C (n.5486+21T>C) c.5684+21T>C (n.5684+21T>C) c.5681+21T>C (n.5681+21T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71669228T= | CA1260152240 | DYSF | c.3056+21T= (n.3056+21T=) c.2273+21T= (n.2273+21T=) c.2381+21T= (n.2381+21T=) c.5525+21T= (n.5525+21T=) c.5642+21T= (n.5642+21T=) c.5528+21T= (n.5528+21T=) c.5591+21T= (n.5591+21T=) c.5639+21T= (n.5639+21T=) c.5621+21T= (n.5621+21T=) c.5549+21T= (n.5549+21T=) c.5576+21T= (n.5576+21T=) c.5579+21T= (n.5579+21T=) c.5618+21T= (n.5618+21T=) c.5588+21T= (n.5588+21T=) n.2410+21T= c.5483+21T= (n.5483+21T=) c.5546+21T= (n.5546+21T=) c.5486+21T= (n.5486+21T=) c.5684+21T= (n.5684+21T=) c.5681+21T= (n.5681+21T=) | |
2 | g.71669229G>A | CA2659555480 | DYSF | c.3056+22G>A (n.3056+22G>A) c.2273+22G>A (n.2273+22G>A) c.2381+22G>A (n.2381+22G>A) c.5525+22G>A (n.5525+22G>A) c.5642+22G>A (n.5642+22G>A) c.5528+22G>A (n.5528+22G>A) c.5591+22G>A (n.5591+22G>A) c.5639+22G>A (n.5639+22G>A) c.5621+22G>A (n.5621+22G>A) c.5549+22G>A (n.5549+22G>A) c.5576+22G>A (n.5576+22G>A) c.5579+22G>A (n.5579+22G>A) c.5618+22G>A (n.5618+22G>A) c.5588+22G>A (n.5588+22G>A) n.2410+22G>A c.5483+22G>A (n.5483+22G>A) c.5546+22G>A (n.5546+22G>A) c.5486+22G>A (n.5486+22G>A) c.5684+22G>A (n.5684+22G>A) c.5681+22G>A (n.5681+22G>A) | gnomAD v4 |
2 | g.71669229G= | CA1260152241 | DYSF | c.3056+22G= (n.3056+22G=) c.2273+22G= (n.2273+22G=) c.2381+22G= (n.2381+22G=) c.5525+22G= (n.5525+22G=) c.5642+22G= (n.5642+22G=) c.5528+22G= (n.5528+22G=) c.5591+22G= (n.5591+22G=) c.5639+22G= (n.5639+22G=) c.5621+22G= (n.5621+22G=) c.5549+22G= (n.5549+22G=) c.5576+22G= (n.5576+22G=) c.5579+22G= (n.5579+22G=) c.5618+22G= (n.5618+22G=) c.5588+22G= (n.5588+22G=) n.2410+22G= c.5483+22G= (n.5483+22G=) c.5546+22G= (n.5546+22G=) c.5486+22G= (n.5486+22G=) c.5684+22G= (n.5684+22G=) c.5681+22G= (n.5681+22G=) | |
2 | g.71669229G>T | CA892680150 | DYSF | c.3056+22G>T (n.3056+22G>T) c.2273+22G>T (n.2273+22G>T) c.2381+22G>T (n.2381+22G>T) c.5525+22G>T (n.5525+22G>T) c.5642+22G>T (n.5642+22G>T) c.5528+22G>T (n.5528+22G>T) c.5591+22G>T (n.5591+22G>T) c.5639+22G>T (n.5639+22G>T) c.5621+22G>T (n.5621+22G>T) c.5549+22G>T (n.5549+22G>T) c.5576+22G>T (n.5576+22G>T) c.5579+22G>T (n.5579+22G>T) c.5618+22G>T (n.5618+22G>T) c.5588+22G>T (n.5588+22G>T) n.2410+22G>T c.5483+22G>T (n.5483+22G>T) c.5546+22G>T (n.5546+22G>T) c.5486+22G>T (n.5486+22G>T) c.5684+22G>T (n.5684+22G>T) c.5681+22G>T (n.5681+22G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71669230C>A | CA2659555481 | DYSF | c.3056+23C>A (n.3056+23C>A) c.2273+23C>A (n.2273+23C>A) c.2381+23C>A (n.2381+23C>A) c.5525+23C>A (n.5525+23C>A) c.5642+23C>A (n.5642+23C>A) c.5528+23C>A (n.5528+23C>A) c.5591+23C>A (n.5591+23C>A) c.5639+23C>A (n.5639+23C>A) c.5621+23C>A (n.5621+23C>A) c.5549+23C>A (n.5549+23C>A) c.5576+23C>A (n.5576+23C>A) c.5579+23C>A (n.5579+23C>A) c.5618+23C>A (n.5618+23C>A) c.5588+23C>A (n.5588+23C>A) n.2410+23C>A c.5483+23C>A (n.5483+23C>A) c.5546+23C>A (n.5546+23C>A) c.5486+23C>A (n.5486+23C>A) c.5684+23C>A (n.5684+23C>A) c.5681+23C>A (n.5681+23C>A) | gnomAD v4 |
2 | g.71669230C>G | CA2659555482 | DYSF | c.3056+23C>G (n.3056+23C>G) c.2273+23C>G (n.2273+23C>G) c.2381+23C>G (n.2381+23C>G) c.5525+23C>G (n.5525+23C>G) c.5642+23C>G (n.5642+23C>G) c.5528+23C>G (n.5528+23C>G) c.5591+23C>G (n.5591+23C>G) c.5639+23C>G (n.5639+23C>G) c.5621+23C>G (n.5621+23C>G) c.5549+23C>G (n.5549+23C>G) c.5576+23C>G (n.5576+23C>G) c.5579+23C>G (n.5579+23C>G) c.5618+23C>G (n.5618+23C>G) c.5588+23C>G (n.5588+23C>G) n.2410+23C>G c.5483+23C>G (n.5483+23C>G) c.5546+23C>G (n.5546+23C>G) c.5486+23C>G (n.5486+23C>G) c.5684+23C>G (n.5684+23C>G) c.5681+23C>G (n.5681+23C>G) | gnomAD v4 |
2 | g.71669230C>T | CA2659555483 | DYSF | c.3056+23C>T (n.3056+23C>T) c.2273+23C>T (n.2273+23C>T) c.2381+23C>T (n.2381+23C>T) c.5525+23C>T (n.5525+23C>T) c.5642+23C>T (n.5642+23C>T) c.5528+23C>T (n.5528+23C>T) c.5591+23C>T (n.5591+23C>T) c.5639+23C>T (n.5639+23C>T) c.5621+23C>T (n.5621+23C>T) c.5549+23C>T (n.5549+23C>T) c.5576+23C>T (n.5576+23C>T) c.5579+23C>T (n.5579+23C>T) c.5618+23C>T (n.5618+23C>T) c.5588+23C>T (n.5588+23C>T) n.2410+23C>T c.5483+23C>T (n.5483+23C>T) c.5546+23C>T (n.5546+23C>T) c.5486+23C>T (n.5486+23C>T) c.5684+23C>T (n.5684+23C>T) c.5681+23C>T (n.5681+23C>T) | gnomAD v4 |
2 | g.71669231C>A | CA2577000812 | DYSF | c.3056+24C>A (n.3056+24C>A) c.2273+24C>A (n.2273+24C>A) c.2381+24C>A (n.2381+24C>A) c.5525+24C>A (n.5525+24C>A) c.5642+24C>A (n.5642+24C>A) c.5528+24C>A (n.5528+24C>A) c.5591+24C>A (n.5591+24C>A) c.5639+24C>A (n.5639+24C>A) c.5621+24C>A (n.5621+24C>A) c.5549+24C>A (n.5549+24C>A) c.5576+24C>A (n.5576+24C>A) c.5579+24C>A (n.5579+24C>A) c.5618+24C>A (n.5618+24C>A) c.5588+24C>A (n.5588+24C>A) n.2410+24C>A c.5483+24C>A (n.5483+24C>A) c.5546+24C>A (n.5546+24C>A) c.5486+24C>A (n.5486+24C>A) c.5684+24C>A (n.5684+24C>A) c.5681+24C>A (n.5681+24C>A) | gnomAD v4 |
2 | g.71669231C>T | CA2659555484 | DYSF | c.3056+24C>T (n.3056+24C>T) c.2273+24C>T (n.2273+24C>T) c.2381+24C>T (n.2381+24C>T) c.5525+24C>T (n.5525+24C>T) c.5642+24C>T (n.5642+24C>T) c.5528+24C>T (n.5528+24C>T) c.5591+24C>T (n.5591+24C>T) c.5639+24C>T (n.5639+24C>T) c.5621+24C>T (n.5621+24C>T) c.5549+24C>T (n.5549+24C>T) c.5576+24C>T (n.5576+24C>T) c.5579+24C>T (n.5579+24C>T) c.5618+24C>T (n.5618+24C>T) c.5588+24C>T (n.5588+24C>T) n.2410+24C>T c.5483+24C>T (n.5483+24C>T) c.5546+24C>T (n.5546+24C>T) c.5486+24C>T (n.5486+24C>T) c.5684+24C>T (n.5684+24C>T) c.5681+24C>T (n.5681+24C>T) | gnomAD v4 |
2 | g.71669232T>A | CA2659555485 | DYSF | c.3056+25T>A (n.3056+25T>A) c.2273+25T>A (n.2273+25T>A) c.2381+25T>A (n.2381+25T>A) c.5525+25T>A (n.5525+25T>A) c.5642+25T>A (n.5642+25T>A) c.5528+25T>A (n.5528+25T>A) c.5591+25T>A (n.5591+25T>A) c.5639+25T>A (n.5639+25T>A) c.5621+25T>A (n.5621+25T>A) c.5549+25T>A (n.5549+25T>A) c.5576+25T>A (n.5576+25T>A) c.5579+25T>A (n.5579+25T>A) c.5618+25T>A (n.5618+25T>A) c.5588+25T>A (n.5588+25T>A) n.2410+25T>A c.5483+25T>A (n.5483+25T>A) c.5546+25T>A (n.5546+25T>A) c.5486+25T>A (n.5486+25T>A) c.5684+25T>A (n.5684+25T>A) c.5681+25T>A (n.5681+25T>A) | gnomAD v4 |
2 | g.71669233G>A | CA1260152243 | DYSF | c.3056+26G>A (n.3056+26G>A) c.2273+26G>A (n.2273+26G>A) c.2381+26G>A (n.2381+26G>A) c.5525+26G>A (n.5525+26G>A) c.5642+26G>A (n.5642+26G>A) c.5528+26G>A (n.5528+26G>A) c.5591+26G>A (n.5591+26G>A) c.5639+26G>A (n.5639+26G>A) c.5621+26G>A (n.5621+26G>A) c.5549+26G>A (n.5549+26G>A) c.5576+26G>A (n.5576+26G>A) c.5579+26G>A (n.5579+26G>A) c.5618+26G>A (n.5618+26G>A) c.5588+26G>A (n.5588+26G>A) n.2410+26G>A c.5483+26G>A (n.5483+26G>A) c.5546+26G>A (n.5546+26G>A) c.5486+26G>A (n.5486+26G>A) c.5684+26G>A (n.5684+26G>A) c.5681+26G>A (n.5681+26G>A) | dbSNP gnomAD v4 |
2 | g.71669233G= | CA1260152242 | DYSF | c.3056+26G= (n.3056+26G=) c.2273+26G= (n.2273+26G=) c.2381+26G= (n.2381+26G=) c.5525+26G= (n.5525+26G=) c.5642+26G= (n.5642+26G=) c.5528+26G= (n.5528+26G=) c.5591+26G= (n.5591+26G=) c.5639+26G= (n.5639+26G=) c.5621+26G= (n.5621+26G=) c.5549+26G= (n.5549+26G=) c.5576+26G= (n.5576+26G=) c.5579+26G= (n.5579+26G=) c.5618+26G= (n.5618+26G=) c.5588+26G= (n.5588+26G=) n.2410+26G= c.5483+26G= (n.5483+26G=) c.5546+26G= (n.5546+26G=) c.5486+26G= (n.5486+26G=) c.5684+26G= (n.5684+26G=) c.5681+26G= (n.5681+26G=) | |
2 | g.71669233G>T | CA2659555486 | DYSF | c.3056+26G>T (n.3056+26G>T) c.2273+26G>T (n.2273+26G>T) c.2381+26G>T (n.2381+26G>T) c.5525+26G>T (n.5525+26G>T) c.5642+26G>T (n.5642+26G>T) c.5528+26G>T (n.5528+26G>T) c.5591+26G>T (n.5591+26G>T) c.5639+26G>T (n.5639+26G>T) c.5621+26G>T (n.5621+26G>T) c.5549+26G>T (n.5549+26G>T) c.5576+26G>T (n.5576+26G>T) c.5579+26G>T (n.5579+26G>T) c.5618+26G>T (n.5618+26G>T) c.5588+26G>T (n.5588+26G>T) n.2410+26G>T c.5483+26G>T (n.5483+26G>T) c.5546+26G>T (n.5546+26G>T) c.5486+26G>T (n.5486+26G>T) c.5684+26G>T (n.5684+26G>T) c.5681+26G>T (n.5681+26G>T) | gnomAD v4 |
2 | g.71669234T>C | CA2659555487 | DYSF | c.3056+27T>C (n.3056+27T>C) c.2273+27T>C (n.2273+27T>C) c.2381+27T>C (n.2381+27T>C) c.5525+27T>C (n.5525+27T>C) c.5642+27T>C (n.5642+27T>C) c.5528+27T>C (n.5528+27T>C) c.5591+27T>C (n.5591+27T>C) c.5639+27T>C (n.5639+27T>C) c.5621+27T>C (n.5621+27T>C) c.5549+27T>C (n.5549+27T>C) c.5576+27T>C (n.5576+27T>C) c.5579+27T>C (n.5579+27T>C) c.5618+27T>C (n.5618+27T>C) c.5588+27T>C (n.5588+27T>C) n.2410+27T>C c.5483+27T>C (n.5483+27T>C) c.5546+27T>C (n.5546+27T>C) c.5486+27T>C (n.5486+27T>C) c.5684+27T>C (n.5684+27T>C) c.5681+27T>C (n.5681+27T>C) | gnomAD v4 |
2 | g.71669235C>A | CA2577000813 | DYSF | c.3056+28C>A (n.3056+28C>A) c.2273+28C>A (n.2273+28C>A) c.2381+28C>A (n.2381+28C>A) c.5525+28C>A (n.5525+28C>A) c.5642+28C>A (n.5642+28C>A) c.5528+28C>A (n.5528+28C>A) c.5591+28C>A (n.5591+28C>A) c.5639+28C>A (n.5639+28C>A) c.5621+28C>A (n.5621+28C>A) c.5549+28C>A (n.5549+28C>A) c.5576+28C>A (n.5576+28C>A) c.5579+28C>A (n.5579+28C>A) c.5618+28C>A (n.5618+28C>A) c.5588+28C>A (n.5588+28C>A) n.2410+28C>A c.5483+28C>A (n.5483+28C>A) c.5546+28C>A (n.5546+28C>A) c.5486+28C>A (n.5486+28C>A) c.5684+28C>A (n.5684+28C>A) c.5681+28C>A (n.5681+28C>A) | gnomAD v4 |
2 | g.71669236C>A | CA2659555489 | DYSF | c.3056+29C>A (n.3056+29C>A) c.2273+29C>A (n.2273+29C>A) c.2381+29C>A (n.2381+29C>A) c.5525+29C>A (n.5525+29C>A) c.5642+29C>A (n.5642+29C>A) c.5528+29C>A (n.5528+29C>A) c.5591+29C>A (n.5591+29C>A) c.5639+29C>A (n.5639+29C>A) c.5621+29C>A (n.5621+29C>A) c.5549+29C>A (n.5549+29C>A) c.5576+29C>A (n.5576+29C>A) c.5579+29C>A (n.5579+29C>A) c.5618+29C>A (n.5618+29C>A) c.5588+29C>A (n.5588+29C>A) n.2410+29C>A c.5483+29C>A (n.5483+29C>A) c.5546+29C>A (n.5546+29C>A) c.5486+29C>A (n.5486+29C>A) c.5684+29C>A (n.5684+29C>A) c.5681+29C>A (n.5681+29C>A) | gnomAD v4 |
2 | g.71669236C>T | CA2659555490 | DYSF | c.3056+29C>T (n.3056+29C>T) c.2273+29C>T (n.2273+29C>T) c.2381+29C>T (n.2381+29C>T) c.5525+29C>T (n.5525+29C>T) c.5642+29C>T (n.5642+29C>T) c.5528+29C>T (n.5528+29C>T) c.5591+29C>T (n.5591+29C>T) c.5639+29C>T (n.5639+29C>T) c.5621+29C>T (n.5621+29C>T) c.5549+29C>T (n.5549+29C>T) c.5576+29C>T (n.5576+29C>T) c.5579+29C>T (n.5579+29C>T) c.5618+29C>T (n.5618+29C>T) c.5588+29C>T (n.5588+29C>T) n.2410+29C>T c.5483+29C>T (n.5483+29C>T) c.5546+29C>T (n.5546+29C>T) c.5486+29C>T (n.5486+29C>T) c.5684+29C>T (n.5684+29C>T) c.5681+29C>T (n.5681+29C>T) | gnomAD v4 |
2 | g.71669237_71669242dup | CA2659555488 | DYSF | c.3056+30_3056+35dup (n.3056+30_3056+35dup) c.2273+30_2273+35dup (n.2273+30_2273+35dup) c.2381+30_2381+35dup (n.2381+30_2381+35dup) c.5525+30_5525+35dup (n.5525+30_5525+35dup) c.5642+30_5642+35dup (n.5642+30_5642+35dup) c.5528+30_5528+35dup (n.5528+30_5528+35dup) c.5591+30_5591+35dup (n.5591+30_5591+35dup) c.5639+30_5639+35dup (n.5639+30_5639+35dup) c.5621+30_5621+35dup (n.5621+30_5621+35dup) c.5549+30_5549+35dup (n.5549+30_5549+35dup) c.5576+30_5576+35dup (n.5576+30_5576+35dup) c.5579+30_5579+35dup (n.5579+30_5579+35dup) c.5618+30_5618+35dup (n.5618+30_5618+35dup) c.5588+30_5588+35dup (n.5588+30_5588+35dup) n.2410+30_2410+35dup c.5483+30_5483+35dup (n.5483+30_5483+35dup) c.5546+30_5546+35dup (n.5546+30_5546+35dup) c.5486+30_5486+35dup (n.5486+30_5486+35dup) c.5684+30_5684+35dup (n.5684+30_5684+35dup) c.5681+30_5681+35dup (n.5681+30_5681+35dup) | gnomAD v4 |
2 | g.71669237A= | CA1260152244 | DYSF | c.3056+30A= (n.3056+30A=) c.2273+30A= (n.2273+30A=) c.2381+30A= (n.2381+30A=) c.5525+30A= (n.5525+30A=) c.5642+30A= (n.5642+30A=) c.5528+30A= (n.5528+30A=) c.5591+30A= (n.5591+30A=) c.5639+30A= (n.5639+30A=) c.5621+30A= (n.5621+30A=) c.5549+30A= (n.5549+30A=) c.5576+30A= (n.5576+30A=) c.5579+30A= (n.5579+30A=) c.5618+30A= (n.5618+30A=) c.5588+30A= (n.5588+30A=) n.2410+30A= c.5483+30A= (n.5483+30A=) c.5546+30A= (n.5546+30A=) c.5486+30A= (n.5486+30A=) c.5684+30A= (n.5684+30A=) c.5681+30A= (n.5681+30A=) | |
2 | g.71669237A>C | CA2659555491 | DYSF | c.3056+30A>C (n.3056+30A>C) c.2273+30A>C (n.2273+30A>C) c.2381+30A>C (n.2381+30A>C) c.5525+30A>C (n.5525+30A>C) c.5642+30A>C (n.5642+30A>C) c.5528+30A>C (n.5528+30A>C) c.5591+30A>C (n.5591+30A>C) c.5639+30A>C (n.5639+30A>C) c.5621+30A>C (n.5621+30A>C) c.5549+30A>C (n.5549+30A>C) c.5576+30A>C (n.5576+30A>C) c.5579+30A>C (n.5579+30A>C) c.5618+30A>C (n.5618+30A>C) c.5588+30A>C (n.5588+30A>C) n.2410+30A>C c.5483+30A>C (n.5483+30A>C) c.5546+30A>C (n.5546+30A>C) c.5486+30A>C (n.5486+30A>C) c.5684+30A>C (n.5684+30A>C) c.5681+30A>C (n.5681+30A>C) | gnomAD v4 |
2 | g.71669237A>G | CA1260152245 | DYSF | c.3056+30A>G (n.3056+30A>G) c.2273+30A>G (n.2273+30A>G) c.2381+30A>G (n.2381+30A>G) c.5525+30A>G (n.5525+30A>G) c.5642+30A>G (n.5642+30A>G) c.5528+30A>G (n.5528+30A>G) c.5591+30A>G (n.5591+30A>G) c.5639+30A>G (n.5639+30A>G) c.5621+30A>G (n.5621+30A>G) c.5549+30A>G (n.5549+30A>G) c.5576+30A>G (n.5576+30A>G) c.5579+30A>G (n.5579+30A>G) c.5618+30A>G (n.5618+30A>G) c.5588+30A>G (n.5588+30A>G) n.2410+30A>G c.5483+30A>G (n.5483+30A>G) c.5546+30A>G (n.5546+30A>G) c.5486+30A>G (n.5486+30A>G) c.5684+30A>G (n.5684+30A>G) c.5681+30A>G (n.5681+30A>G) | dbSNP |
2 | g.71669238G>A | CA2577000814 | DYSF | c.3056+31G>A (n.3056+31G>A) c.2273+31G>A (n.2273+31G>A) c.2381+31G>A (n.2381+31G>A) c.5525+31G>A (n.5525+31G>A) c.5642+31G>A (n.5642+31G>A) c.5528+31G>A (n.5528+31G>A) c.5591+31G>A (n.5591+31G>A) c.5639+31G>A (n.5639+31G>A) c.5621+31G>A (n.5621+31G>A) c.5549+31G>A (n.5549+31G>A) c.5576+31G>A (n.5576+31G>A) c.5579+31G>A (n.5579+31G>A) c.5618+31G>A (n.5618+31G>A) c.5588+31G>A (n.5588+31G>A) n.2410+31G>A c.5483+31G>A (n.5483+31G>A) c.5546+31G>A (n.5546+31G>A) c.5486+31G>A (n.5486+31G>A) c.5684+31G>A (n.5684+31G>A) c.5681+31G>A (n.5681+31G>A) | gnomAD v4 |
2 | g.71669238G>T | CA2659555492 | DYSF | c.3056+31G>T (n.3056+31G>T) c.2273+31G>T (n.2273+31G>T) c.2381+31G>T (n.2381+31G>T) c.5525+31G>T (n.5525+31G>T) c.5642+31G>T (n.5642+31G>T) c.5528+31G>T (n.5528+31G>T) c.5591+31G>T (n.5591+31G>T) c.5639+31G>T (n.5639+31G>T) c.5621+31G>T (n.5621+31G>T) c.5549+31G>T (n.5549+31G>T) c.5576+31G>T (n.5576+31G>T) c.5579+31G>T (n.5579+31G>T) c.5618+31G>T (n.5618+31G>T) c.5588+31G>T (n.5588+31G>T) n.2410+31G>T c.5483+31G>T (n.5483+31G>T) c.5546+31G>T (n.5546+31G>T) c.5486+31G>T (n.5486+31G>T) c.5684+31G>T (n.5684+31G>T) c.5681+31G>T (n.5681+31G>T) | gnomAD v4 |
2 | g.71669239C>A | CA2577000815 | DYSF | c.3056+32C>A (n.3056+32C>A) c.2273+32C>A (n.2273+32C>A) c.2381+32C>A (n.2381+32C>A) c.5525+32C>A (n.5525+32C>A) c.5642+32C>A (n.5642+32C>A) c.5528+32C>A (n.5528+32C>A) c.5591+32C>A (n.5591+32C>A) c.5639+32C>A (n.5639+32C>A) c.5621+32C>A (n.5621+32C>A) c.5549+32C>A (n.5549+32C>A) c.5576+32C>A (n.5576+32C>A) c.5579+32C>A (n.5579+32C>A) c.5618+32C>A (n.5618+32C>A) c.5588+32C>A (n.5588+32C>A) n.2410+32C>A c.5483+32C>A (n.5483+32C>A) c.5546+32C>A (n.5546+32C>A) c.5486+32C>A (n.5486+32C>A) c.5684+32C>A (n.5684+32C>A) c.5681+32C>A (n.5681+32C>A) | gnomAD v4 |
2 | g.71669242C>A | CA2659555493 | DYSF | c.3056+35C>A (n.3056+35C>A) c.2273+35C>A (n.2273+35C>A) c.2381+35C>A (n.2381+35C>A) c.5525+35C>A (n.5525+35C>A) c.5642+35C>A (n.5642+35C>A) c.5528+35C>A (n.5528+35C>A) c.5591+35C>A (n.5591+35C>A) c.5639+35C>A (n.5639+35C>A) c.5621+35C>A (n.5621+35C>A) c.5549+35C>A (n.5549+35C>A) c.5576+35C>A (n.5576+35C>A) c.5579+35C>A (n.5579+35C>A) c.5618+35C>A (n.5618+35C>A) c.5588+35C>A (n.5588+35C>A) n.2410+35C>A c.5483+35C>A (n.5483+35C>A) c.5546+35C>A (n.5546+35C>A) c.5486+35C>A (n.5486+35C>A) c.5684+35C>A (n.5684+35C>A) c.5681+35C>A (n.5681+35C>A) | gnomAD v4 |
2 | g.71669242C= | CA1260152246 | DYSF | c.3056+35C= (n.3056+35C=) c.2273+35C= (n.2273+35C=) c.2381+35C= (n.2381+35C=) c.5525+35C= (n.5525+35C=) c.5642+35C= (n.5642+35C=) c.5528+35C= (n.5528+35C=) c.5591+35C= (n.5591+35C=) c.5639+35C= (n.5639+35C=) c.5621+35C= (n.5621+35C=) c.5549+35C= (n.5549+35C=) c.5576+35C= (n.5576+35C=) c.5579+35C= (n.5579+35C=) c.5618+35C= (n.5618+35C=) c.5588+35C= (n.5588+35C=) n.2410+35C= c.5483+35C= (n.5483+35C=) c.5546+35C= (n.5546+35C=) c.5486+35C= (n.5486+35C=) c.5684+35C= (n.5684+35C=) c.5681+35C= (n.5681+35C=) | |
2 | g.71669242C>T | CA1707458 | DYSF | c.3056+35C>T (n.3056+35C>T) c.2273+35C>T (n.2273+35C>T) c.2381+35C>T (n.2381+35C>T) c.5525+35C>T (n.5525+35C>T) c.5642+35C>T (n.5642+35C>T) c.5528+35C>T (n.5528+35C>T) c.5591+35C>T (n.5591+35C>T) c.5639+35C>T (n.5639+35C>T) c.5621+35C>T (n.5621+35C>T) c.5549+35C>T (n.5549+35C>T) c.5576+35C>T (n.5576+35C>T) c.5579+35C>T (n.5579+35C>T) c.5618+35C>T (n.5618+35C>T) c.5588+35C>T (n.5588+35C>T) n.2410+35C>T c.5483+35C>T (n.5483+35C>T) c.5546+35C>T (n.5546+35C>T) c.5486+35C>T (n.5486+35C>T) c.5684+35C>T (n.5684+35C>T) c.5681+35C>T (n.5681+35C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71669243C= | CA1260152247 | DYSF | c.3056+36C= (n.3056+36C=) c.2273+36C= (n.2273+36C=) c.2381+36C= (n.2381+36C=) c.5525+36C= (n.5525+36C=) c.5642+36C= (n.5642+36C=) c.5528+36C= (n.5528+36C=) c.5591+36C= (n.5591+36C=) c.5639+36C= (n.5639+36C=) c.5621+36C= (n.5621+36C=) c.5549+36C= (n.5549+36C=) c.5576+36C= (n.5576+36C=) c.5579+36C= (n.5579+36C=) c.5618+36C= (n.5618+36C=) c.5588+36C= (n.5588+36C=) n.2410+36C= c.5483+36C= (n.5483+36C=) c.5546+36C= (n.5546+36C=) c.5486+36C= (n.5486+36C=) c.5684+36C= (n.5684+36C=) c.5681+36C= (n.5681+36C=) | |
2 | g.71669243C>T | CA49769044 | DYSF | c.3056+36C>T (n.3056+36C>T) c.2273+36C>T (n.2273+36C>T) c.2381+36C>T (n.2381+36C>T) c.5525+36C>T (n.5525+36C>T) c.5642+36C>T (n.5642+36C>T) c.5528+36C>T (n.5528+36C>T) c.5591+36C>T (n.5591+36C>T) c.5639+36C>T (n.5639+36C>T) c.5621+36C>T (n.5621+36C>T) c.5549+36C>T (n.5549+36C>T) c.5576+36C>T (n.5576+36C>T) c.5579+36C>T (n.5579+36C>T) c.5618+36C>T (n.5618+36C>T) c.5588+36C>T (n.5588+36C>T) n.2410+36C>T c.5483+36C>T (n.5483+36C>T) c.5546+36C>T (n.5546+36C>T) c.5486+36C>T (n.5486+36C>T) c.5684+36C>T (n.5684+36C>T) c.5681+36C>T (n.5681+36C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71669244C>A | CA2577000816 | DYSF | c.3056+37C>A (n.3056+37C>A) c.2273+37C>A (n.2273+37C>A) c.2381+37C>A (n.2381+37C>A) c.5525+37C>A (n.5525+37C>A) c.5642+37C>A (n.5642+37C>A) c.5528+37C>A (n.5528+37C>A) c.5591+37C>A (n.5591+37C>A) c.5639+37C>A (n.5639+37C>A) c.5621+37C>A (n.5621+37C>A) c.5549+37C>A (n.5549+37C>A) c.5576+37C>A (n.5576+37C>A) c.5579+37C>A (n.5579+37C>A) c.5618+37C>A (n.5618+37C>A) c.5588+37C>A (n.5588+37C>A) n.2410+37C>A c.5483+37C>A (n.5483+37C>A) c.5546+37C>A (n.5546+37C>A) c.5486+37C>A (n.5486+37C>A) c.5684+37C>A (n.5684+37C>A) c.5681+37C>A (n.5681+37C>A) | gnomAD v4 |
2 | g.71669244C= | CA1260152248 | DYSF | c.3056+37C= (n.3056+37C=) c.2273+37C= (n.2273+37C=) c.2381+37C= (n.2381+37C=) c.5525+37C= (n.5525+37C=) c.5642+37C= (n.5642+37C=) c.5528+37C= (n.5528+37C=) c.5591+37C= (n.5591+37C=) c.5639+37C= (n.5639+37C=) c.5621+37C= (n.5621+37C=) c.5549+37C= (n.5549+37C=) c.5576+37C= (n.5576+37C=) c.5579+37C= (n.5579+37C=) c.5618+37C= (n.5618+37C=) c.5588+37C= (n.5588+37C=) n.2410+37C= c.5483+37C= (n.5483+37C=) c.5546+37C= (n.5546+37C=) c.5486+37C= (n.5486+37C=) c.5684+37C= (n.5684+37C=) c.5681+37C= (n.5681+37C=) | |
2 | g.71669244C>T | CA49769047 | DYSF | c.3056+37C>T (n.3056+37C>T) c.2273+37C>T (n.2273+37C>T) c.2381+37C>T (n.2381+37C>T) c.5525+37C>T (n.5525+37C>T) c.5642+37C>T (n.5642+37C>T) c.5528+37C>T (n.5528+37C>T) c.5591+37C>T (n.5591+37C>T) c.5639+37C>T (n.5639+37C>T) c.5621+37C>T (n.5621+37C>T) c.5549+37C>T (n.5549+37C>T) c.5576+37C>T (n.5576+37C>T) c.5579+37C>T (n.5579+37C>T) c.5618+37C>T (n.5618+37C>T) c.5588+37C>T (n.5588+37C>T) n.2410+37C>T c.5483+37C>T (n.5483+37C>T) c.5546+37C>T (n.5546+37C>T) c.5486+37C>T (n.5486+37C>T) c.5684+37C>T (n.5684+37C>T) c.5681+37C>T (n.5681+37C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |