Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.71553116T>A | CA347218623 | DYSF | c.1858T>A (p.Tyr620Asn) c.1912T>A (p.Tyr638Asn) c.1861T>A (p.Tyr621Asn) c.1909T>A (p.Tyr637Asn) c.1954T>A (p.Tyr652Asn) c.1819T>A (p.Tyr607Asn) c.1951T>A (p.Tyr651Asn) c.1816T>A (p.Tyr606Asn) n.2112T>A | |
2 | g.71553116T>C | CA347218624 | DYSF | c.1858T>C (p.Tyr620His) c.1912T>C (p.Tyr638His) c.1861T>C (p.Tyr621His) c.1909T>C (p.Tyr637His) c.1954T>C (p.Tyr652His) c.1819T>C (p.Tyr607His) c.1951T>C (p.Tyr651His) c.1816T>C (p.Tyr606His) n.2112T>C | |
2 | g.71553116T>G | CA347218625 | DYSF | c.1858T>G (p.Tyr620Asp) c.1912T>G (p.Tyr638Asp) c.1861T>G (p.Tyr621Asp) c.1909T>G (p.Tyr637Asp) c.1954T>G (p.Tyr652Asp) c.1819T>G (p.Tyr607Asp) c.1951T>G (p.Tyr651Asp) c.1816T>G (p.Tyr606Asp) n.2112T>G | |
2 | g.71553117A>C | CA347218626 | DYSF | c.1859A>C (p.Tyr620Ser) c.1913A>C (p.Tyr638Ser) c.1862A>C (p.Tyr621Ser) c.1910A>C (p.Tyr637Ser) c.1955A>C (p.Tyr652Ser) c.1820A>C (p.Tyr607Ser) c.1952A>C (p.Tyr651Ser) c.1817A>C (p.Tyr606Ser) n.2113A>C | |
2 | g.71553117A>G | CA347218627 | DYSF | c.1859A>G (p.Tyr620Cys) c.1913A>G (p.Tyr638Cys) c.1862A>G (p.Tyr621Cys) c.1910A>G (p.Tyr637Cys) c.1955A>G (p.Tyr652Cys) c.1820A>G (p.Tyr607Cys) c.1952A>G (p.Tyr651Cys) c.1817A>G (p.Tyr606Cys) n.2113A>G | |
2 | g.71553117A>T | CA347218628 | DYSF | c.1859A>T (p.Tyr620Phe) c.1913A>T (p.Tyr638Phe) c.1862A>T (p.Tyr621Phe) c.1910A>T (p.Tyr637Phe) c.1955A>T (p.Tyr652Phe) c.1820A>T (p.Tyr607Phe) c.1952A>T (p.Tyr651Phe) c.1817A>T (p.Tyr606Phe) n.2113A>T | |
2 | g.71553118C>A | CA347218629 | DYSF | c.1860C>A (p.Tyr620Ter) c.1914C>A (p.Tyr638Ter) c.1863C>A (p.Tyr621Ter) c.1911C>A (p.Tyr637Ter) c.1956C>A (p.Tyr652Ter) c.1821C>A (p.Tyr607Ter) c.1953C>A (p.Tyr651Ter) c.1818C>A (p.Tyr606Ter) n.2114C>A | |
2 | g.71553118C= | CA1260095677 | DYSF | c.1860C= (p.Tyr620=) c.1914C= (p.Tyr638=) c.1863C= (p.Tyr621=) c.1911C= (p.Tyr637=) c.1956C= (p.Tyr652=) c.1821C= (p.Tyr607=) c.1953C= (p.Tyr651=) c.1818C= (p.Tyr606=) n.2114C= | |
2 | g.71553118C>G | CA347218630 | DYSF | c.1860C>G (p.Tyr620Ter) c.1914C>G (p.Tyr638Ter) c.1863C>G (p.Tyr621Ter) c.1911C>G (p.Tyr637Ter) c.1956C>G (p.Tyr652Ter) c.1821C>G (p.Tyr607Ter) c.1953C>G (p.Tyr651Ter) c.1818C>G (p.Tyr606Ter) n.2114C>G | |
2 | g.71553118C>T | CA147728 | DYSF | c.1860C>T (p.Tyr620=) c.1914C>T (p.Tyr638=) c.1863C>T (p.Tyr621=) c.1911C>T (p.Tyr637=) c.1956C>T (p.Tyr652=) c.1821C>T (p.Tyr607=) c.1953C>T (p.Tyr651=) c.1818C>T (p.Tyr606=) n.2114C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71553119G>A | CA10606091 | DYSF | c.1861G>A (p.Gly621Arg) c.1915G>A (p.Gly639Arg) c.1864G>A (p.Gly622Arg) c.1912G>A (p.Gly638Arg) c.1957G>A (p.Gly653Arg) c.1822G>A (p.Gly608Arg) c.1954G>A (p.Gly652Arg) c.1819G>A (p.Gly607Arg) n.2115G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71553119G>C | CA347218631 | DYSF | c.1861G>C (p.Gly621Arg) c.1915G>C (p.Gly639Arg) c.1864G>C (p.Gly622Arg) c.1912G>C (p.Gly638Arg) c.1957G>C (p.Gly653Arg) c.1822G>C (p.Gly608Arg) c.1954G>C (p.Gly652Arg) c.1819G>C (p.Gly607Arg) n.2115G>C | |
2 | g.71553119G= | CA1260095678 | DYSF | c.1861G= (p.Gly621=) c.1915G= (p.Gly639=) c.1864G= (p.Gly622=) c.1912G= (p.Gly638=) c.1957G= (p.Gly653=) c.1822G= (p.Gly608=) c.1954G= (p.Gly652=) c.1819G= (p.Gly607=) n.2115G= | |
2 | g.71553119G>T | CA347218632 | DYSF | c.1861G>T (p.Gly621Trp) c.1915G>T (p.Gly639Trp) c.1864G>T (p.Gly622Trp) c.1912G>T (p.Gly638Trp) c.1957G>T (p.Gly653Trp) c.1822G>T (p.Gly608Trp) c.1954G>T (p.Gly652Trp) c.1819G>T (p.Gly607Trp) n.2115G>T | |
2 | g.71553120G>A | CA347218633 | DYSF | c.1862G>A (p.Gly621Glu) c.1916G>A (p.Gly639Glu) c.1865G>A (p.Gly622Glu) c.1913G>A (p.Gly638Glu) c.1958G>A (p.Gly653Glu) c.1823G>A (p.Gly608Glu) c.1955G>A (p.Gly652Glu) c.1820G>A (p.Gly607Glu) n.2116G>A | gnomAD v4 COSMIC COSMIC |
2 | g.71553120G>C | CA347218634 | DYSF | c.1862G>C (p.Gly621Ala) c.1916G>C (p.Gly639Ala) c.1865G>C (p.Gly622Ala) c.1913G>C (p.Gly638Ala) c.1958G>C (p.Gly653Ala) c.1823G>C (p.Gly608Ala) c.1955G>C (p.Gly652Ala) c.1820G>C (p.Gly607Ala) n.2116G>C | |
2 | g.71553120G>T | CA347218635 | DYSF | c.1862G>T (p.Gly621Val) c.1916G>T (p.Gly639Val) c.1865G>T (p.Gly622Val) c.1913G>T (p.Gly638Val) c.1958G>T (p.Gly653Val) c.1823G>T (p.Gly608Val) c.1955G>T (p.Gly652Val) c.1820G>T (p.Gly607Val) n.2116G>T | |
2 | g.71553121G>A | CA1705978 | DYSF | c.1863G>A (p.Gly621=) c.1917G>A (p.Gly639=) c.1866G>A (p.Gly622=) c.1914G>A (p.Gly638=) c.1959G>A (p.Gly653=) c.1824G>A (p.Gly608=) c.1956G>A (p.Gly652=) c.1821G>A (p.Gly607=) n.2117G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.71553121G>C | CA426701325 | DYSF | c.1863G>C (p.Gly621=) c.1917G>C (p.Gly639=) c.1866G>C (p.Gly622=) c.1914G>C (p.Gly638=) c.1959G>C (p.Gly653=) c.1824G>C (p.Gly608=) c.1956G>C (p.Gly652=) c.1821G>C (p.Gly607=) n.2117G>C | ClinVar gnomAD v4 |
2 | g.71553121G= | CA1260095679 | DYSF | c.1863G= (p.Gly621=) c.1917G= (p.Gly639=) c.1866G= (p.Gly622=) c.1914G= (p.Gly638=) c.1959G= (p.Gly653=) c.1824G= (p.Gly608=) c.1956G= (p.Gly652=) c.1821G= (p.Gly607=) n.2117G= | |
2 | g.71553121G>T | CA426701326 | DYSF | c.1863G>T (p.Gly621=) c.1917G>T (p.Gly639=) c.1866G>T (p.Gly622=) c.1914G>T (p.Gly638=) c.1959G>T (p.Gly653=) c.1824G>T (p.Gly608=) c.1956G>T (p.Gly652=) c.1821G>T (p.Gly607=) n.2117G>T | |
2 | g.71553122A>C | CA347218636 | DYSF | c.1864A>C (p.Asn622His) c.1918A>C (p.Asn640His) c.1867A>C (p.Asn623His) c.1915A>C (p.Asn639His) c.1960A>C (p.Asn654His) c.1825A>C (p.Asn609His) c.1957A>C (p.Asn653His) c.1822A>C (p.Asn608His) n.2118A>C | |
2 | g.71553122A>G | CA347218637 | DYSF | c.1864A>G (p.Asn622Asp) c.1918A>G (p.Asn640Asp) c.1867A>G (p.Asn623Asp) c.1915A>G (p.Asn639Asp) c.1960A>G (p.Asn654Asp) c.1825A>G (p.Asn609Asp) c.1957A>G (p.Asn653Asp) c.1822A>G (p.Asn608Asp) n.2118A>G | |
2 | g.71553122A>T | CA347218638 | DYSF | c.1864A>T (p.Asn622Tyr) c.1918A>T (p.Asn640Tyr) c.1867A>T (p.Asn623Tyr) c.1915A>T (p.Asn639Tyr) c.1960A>T (p.Asn654Tyr) c.1825A>T (p.Asn609Tyr) c.1957A>T (p.Asn653Tyr) c.1822A>T (p.Asn608Tyr) n.2118A>T | |
2 | g.71553123A= | CA1260095680 | DYSF | c.1865A= (p.Asn622=) c.1919A= (p.Asn640=) c.1868A= (p.Asn623=) c.1916A= (p.Asn639=) c.1961A= (p.Asn654=) c.1826A= (p.Asn609=) c.1958A= (p.Asn653=) c.1823A= (p.Asn608=) n.2119A= | |
2 | g.71553123A>C | CA10605228 | DYSF | c.1865A>C (p.Asn622Thr) c.1919A>C (p.Asn640Thr) c.1868A>C (p.Asn623Thr) c.1916A>C (p.Asn639Thr) c.1961A>C (p.Asn654Thr) c.1826A>C (p.Asn609Thr) c.1958A>C (p.Asn653Thr) c.1823A>C (p.Asn608Thr) n.2119A>C | ClinVar dbSNP gnomAD v4 |
2 | g.71553123A>G | CA347218639 | DYSF | c.1865A>G (p.Asn622Ser) c.1919A>G (p.Asn640Ser) c.1868A>G (p.Asn623Ser) c.1916A>G (p.Asn639Ser) c.1961A>G (p.Asn654Ser) c.1826A>G (p.Asn609Ser) c.1958A>G (p.Asn653Ser) c.1823A>G (p.Asn608Ser) n.2119A>G | |
2 | g.71553123A>T | CA347218640 | DYSF | c.1865A>T (p.Asn622Ile) c.1919A>T (p.Asn640Ile) c.1868A>T (p.Asn623Ile) c.1916A>T (p.Asn639Ile) c.1961A>T (p.Asn654Ile) c.1826A>T (p.Asn609Ile) c.1958A>T (p.Asn653Ile) c.1823A>T (p.Asn608Ile) n.2119A>T | |
2 | g.71553124C>A | CA347218641 | DYSF | c.1866C>A (p.Asn622Lys) c.1920C>A (p.Asn640Lys) c.1869C>A (p.Asn623Lys) c.1917C>A (p.Asn639Lys) c.1962C>A (p.Asn654Lys) c.1827C>A (p.Asn609Lys) c.1959C>A (p.Asn653Lys) c.1824C>A (p.Asn608Lys) n.2120C>A | gnomAD v4 |
2 | g.71553124C= | CA1260095682 | DYSF | c.1866C= (p.Asn622=) c.1920C= (p.Asn640=) c.1869C= (p.Asn623=) c.1917C= (p.Asn639=) c.1962C= (p.Asn654=) c.1827C= (p.Asn609=) c.1959C= (p.Asn653=) c.1824C= (p.Asn608=) n.2120C= | |
2 | g.71553124C>G | CA49795239 | DYSF | c.1866C>G (p.Asn622Lys) c.1920C>G (p.Asn640Lys) c.1869C>G (p.Asn623Lys) c.1917C>G (p.Asn639Lys) c.1962C>G (p.Asn654Lys) c.1827C>G (p.Asn609Lys) c.1959C>G (p.Asn653Lys) c.1824C>G (p.Asn608Lys) n.2120C>G | dbSNP |
2 | g.71553124C>T | CA426701327 | DYSF | c.1866C>T (p.Asn622=) c.1920C>T (p.Asn640=) c.1869C>T (p.Asn623=) c.1917C>T (p.Asn639=) c.1962C>T (p.Asn654=) c.1827C>T (p.Asn609=) c.1959C>T (p.Asn653=) c.1824C>T (p.Asn608=) n.2120C>T | |
2 | g.71553124_71553125delinsCA | CA1260095681 | DYSF | c.1866_1867delinsCA (p.Asn622=) c.1920_1921delinsCA (p.Asn640=) c.1869_1870delinsCA (p.Asn623=) c.1917_1918delinsCA (p.Asn639=) c.1962_1963delinsCA (p.Asn654=) c.1827_1828delinsCA (p.Asn609=) c.1959_1960delinsCA (p.Asn653=) c.1824_1825delinsCA (p.Asn608=) n.2120_2121delinsCA | |
2 | g.71553125A>C | CA347218642 | DYSF | c.1867A>C (p.Lys623Gln) c.1921A>C (p.Lys641Gln) c.1870A>C (p.Lys624Gln) c.1918A>C (p.Lys640Gln) c.1963A>C (p.Lys655Gln) c.1828A>C (p.Lys610Gln) c.1960A>C (p.Lys654Gln) c.1825A>C (p.Lys609Gln) n.2121A>C | |
2 | g.71553125A>G | CA347218643 | DYSF | c.1867A>G (p.Lys623Glu) c.1921A>G (p.Lys641Glu) c.1870A>G (p.Lys624Glu) c.1918A>G (p.Lys640Glu) c.1963A>G (p.Lys655Glu) c.1828A>G (p.Lys610Glu) c.1960A>G (p.Lys654Glu) c.1825A>G (p.Lys609Glu) n.2121A>G | |
2 | g.71553125A>T | CA347218644 | DYSF | c.1867A>T (p.Lys623Ter) c.1921A>T (p.Lys641Ter) c.1870A>T (p.Lys624Ter) c.1918A>T (p.Lys640Ter) c.1963A>T (p.Lys655Ter) c.1828A>T (p.Lys610Ter) c.1960A>T (p.Lys654Ter) c.1825A>T (p.Lys609Ter) n.2121A>T | |
2 | g.71553126del | CA915942532 | DYSF | c.1868del (p.Lys623SerfsTer4) c.1922del (p.Lys641SerfsTer4) c.1871del (p.Lys624SerfsTer4) c.1919del (p.Lys640SerfsTer4) c.1964del (p.Lys655SerfsTer4) c.1829del (p.Lys610SerfsTer4) c.1961del (p.Lys654SerfsTer4) c.1826del (p.Lys609SerfsTer4) n.2122del | ClinVar dbSNP |
2 | g.71553126A>C | CA347218645 | DYSF | c.1868A>C (p.Lys623Thr) c.1922A>C (p.Lys641Thr) c.1871A>C (p.Lys624Thr) c.1919A>C (p.Lys640Thr) c.1964A>C (p.Lys655Thr) c.1829A>C (p.Lys610Thr) c.1961A>C (p.Lys654Thr) c.1826A>C (p.Lys609Thr) n.2122A>C | gnomAD v4 |
2 | g.71553126A>G | CA347218647 | DYSF | c.1868A>G (p.Lys623Arg) c.1922A>G (p.Lys641Arg) c.1871A>G (p.Lys624Arg) c.1919A>G (p.Lys640Arg) c.1964A>G (p.Lys655Arg) c.1829A>G (p.Lys610Arg) c.1961A>G (p.Lys654Arg) c.1826A>G (p.Lys609Arg) n.2122A>G | |
2 | g.71553126A>T | CA347218646 | DYSF | c.1868A>T (p.Lys623Met) c.1922A>T (p.Lys641Met) c.1871A>T (p.Lys624Met) c.1919A>T (p.Lys640Met) c.1964A>T (p.Lys655Met) c.1829A>T (p.Lys610Met) c.1961A>T (p.Lys654Met) c.1826A>T (p.Lys609Met) n.2122A>T | |
2 | g.71553127G>A | CA49795242 | DYSF | c.1869G>A (p.Lys623=) c.1923G>A (p.Lys641=) c.1872G>A (p.Lys624=) c.1920G>A (p.Lys640=) c.1965G>A (p.Lys655=) c.1830G>A (p.Lys610=) c.1962G>A (p.Lys654=) c.1827G>A (p.Lys609=) n.2123G>A | dbSNP |
2 | g.71553127G>C | CA347218648 | DYSF | c.1869G>C (p.Lys623Asn) c.1923G>C (p.Lys641Asn) c.1872G>C (p.Lys624Asn) c.1920G>C (p.Lys640Asn) c.1965G>C (p.Lys655Asn) c.1830G>C (p.Lys610Asn) c.1962G>C (p.Lys654Asn) c.1827G>C (p.Lys609Asn) n.2123G>C | |
2 | g.71553127G= | CA1260095683 | DYSF | c.1869G= (p.Lys623=) c.1923G= (p.Lys641=) c.1872G= (p.Lys624=) c.1920G= (p.Lys640=) c.1965G= (p.Lys655=) c.1830G= (p.Lys610=) c.1962G= (p.Lys654=) c.1827G= (p.Lys609=) n.2123G= | |
2 | g.71553127G>T | CA347218649 | DYSF | c.1869G>T (p.Lys623Asn) c.1923G>T (p.Lys641Asn) c.1872G>T (p.Lys624Asn) c.1920G>T (p.Lys640Asn) c.1965G>T (p.Lys655Asn) c.1830G>T (p.Lys610Asn) c.1962G>T (p.Lys654Asn) c.1827G>T (p.Lys609Asn) n.2123G>T | |
2 | g.71553128T>A | CA347218650 | DYSF | c.1870T>A (p.Phe624Ile) c.1924T>A (p.Phe642Ile) c.1873T>A (p.Phe625Ile) c.1921T>A (p.Phe641Ile) c.1966T>A (p.Phe656Ile) c.1831T>A (p.Phe611Ile) c.1963T>A (p.Phe655Ile) c.1828T>A (p.Phe610Ile) n.2124T>A | |
2 | g.71553128T>C | CA347218651 | DYSF | c.1870T>C (p.Phe624Leu) c.1924T>C (p.Phe642Leu) c.1873T>C (p.Phe625Leu) c.1921T>C (p.Phe641Leu) c.1966T>C (p.Phe656Leu) c.1831T>C (p.Phe611Leu) c.1963T>C (p.Phe655Leu) c.1828T>C (p.Phe610Leu) n.2124T>C | dbSNP |
2 | g.71553128T>G | CA347218652 | DYSF | c.1870T>G (p.Phe624Val) c.1924T>G (p.Phe642Val) c.1873T>G (p.Phe625Val) c.1921T>G (p.Phe641Val) c.1966T>G (p.Phe656Val) c.1831T>G (p.Phe611Val) c.1963T>G (p.Phe655Val) c.1828T>G (p.Phe610Val) n.2124T>G | |
2 | g.71553128T= | CA1260095684 | DYSF | c.1870T= (p.Phe624=) c.1924T= (p.Phe642=) c.1873T= (p.Phe625=) c.1921T= (p.Phe641=) c.1966T= (p.Phe656=) c.1831T= (p.Phe611=) c.1963T= (p.Phe655=) c.1828T= (p.Phe610=) n.2124T= | |
2 | g.71553129T>A | CA347218653 | DYSF | c.1871T>A (p.Phe624Tyr) c.1925T>A (p.Phe642Tyr) c.1874T>A (p.Phe625Tyr) c.1922T>A (p.Phe641Tyr) c.1967T>A (p.Phe656Tyr) c.1832T>A (p.Phe611Tyr) c.1964T>A (p.Phe655Tyr) c.1829T>A (p.Phe610Tyr) n.2125T>A | |
2 | g.71553129T>C | CA347218654 | DYSF | c.1871T>C (p.Phe624Ser) c.1925T>C (p.Phe642Ser) c.1874T>C (p.Phe625Ser) c.1922T>C (p.Phe641Ser) c.1967T>C (p.Phe656Ser) c.1832T>C (p.Phe611Ser) c.1964T>C (p.Phe655Ser) c.1829T>C (p.Phe610Ser) n.2125T>C | |
2 | g.71553129T>G | CA347218655 | DYSF | c.1871T>G (p.Phe624Cys) c.1925T>G (p.Phe642Cys) c.1874T>G (p.Phe625Cys) c.1922T>G (p.Phe641Cys) c.1967T>G (p.Phe656Cys) c.1832T>G (p.Phe611Cys) c.1964T>G (p.Phe655Cys) c.1829T>G (p.Phe610Cys) n.2125T>G | |
2 | g.71553130C>A | CA347218656 | DYSF | c.1872C>A (p.Phe624Leu) c.1926C>A (p.Phe642Leu) c.1875C>A (p.Phe625Leu) c.1923C>A (p.Phe641Leu) c.1968C>A (p.Phe656Leu) c.1833C>A (p.Phe611Leu) c.1965C>A (p.Phe655Leu) c.1830C>A (p.Phe610Leu) n.2126C>A | |
2 | g.71553130C= | CA1260095685 | DYSF | c.1872C= (p.Phe624=) c.1926C= (p.Phe642=) c.1875C= (p.Phe625=) c.1923C= (p.Phe641=) c.1968C= (p.Phe656=) c.1833C= (p.Phe611=) c.1965C= (p.Phe655=) c.1830C= (p.Phe610=) n.2126C= | |
2 | g.71553130C>G | CA347218657 | DYSF | c.1872C>G (p.Phe624Leu) c.1926C>G (p.Phe642Leu) c.1875C>G (p.Phe625Leu) c.1923C>G (p.Phe641Leu) c.1968C>G (p.Phe656Leu) c.1833C>G (p.Phe611Leu) c.1965C>G (p.Phe655Leu) c.1830C>G (p.Phe610Leu) n.2126C>G | |
2 | g.71553130C>T | CA1705979 | DYSF | c.1872C>T (p.Phe624=) c.1926C>T (p.Phe642=) c.1875C>T (p.Phe625=) c.1923C>T (p.Phe641=) c.1968C>T (p.Phe656=) c.1833C>T (p.Phe611=) c.1965C>T (p.Phe655=) c.1830C>T (p.Phe610=) n.2126C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.71553131G>A | CA1705980 | DYSF | c.1873G>A (p.Asp625Asn) c.1927G>A (p.Asp643Asn) c.1876G>A (p.Asp626Asn) c.1924G>A (p.Asp642Asn) c.1969G>A (p.Asp657Asn) c.1834G>A (p.Asp612Asn) c.1966G>A (p.Asp656Asn) c.1831G>A (p.Asp611Asn) n.2127G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71553131G>C | CA347218658 | DYSF | c.1873G>C (p.Asp625His) c.1927G>C (p.Asp643His) c.1876G>C (p.Asp626His) c.1924G>C (p.Asp642His) c.1969G>C (p.Asp657His) c.1834G>C (p.Asp612His) c.1966G>C (p.Asp656His) c.1831G>C (p.Asp611His) n.2127G>C | |
2 | g.71553131G= | CA1260095686 | DYSF | c.1873G= (p.Asp625=) c.1927G= (p.Asp643=) c.1876G= (p.Asp626=) c.1924G= (p.Asp642=) c.1969G= (p.Asp657=) c.1834G= (p.Asp612=) c.1966G= (p.Asp656=) c.1831G= (p.Asp611=) n.2127G= | |
2 | g.71553131G>T | CA253909 | DYSF | c.1873G>T (p.Asp625Tyr) c.1927G>T (p.Asp643Tyr) c.1876G>T (p.Asp626Tyr) c.1924G>T (p.Asp642Tyr) c.1969G>T (p.Asp657Tyr) c.1834G>T (p.Asp612Tyr) c.1966G>T (p.Asp656Tyr) c.1831G>T (p.Asp611Tyr) n.2127G>T | ClinVar dbSNP gnomAD v4 |
2 | g.71553132A= | CA1260095687 | DYSF | c.1874A= (p.Asp625=) c.1928A= (p.Asp643=) c.1877A= (p.Asp626=) c.1925A= (p.Asp642=) c.1970A= (p.Asp657=) c.1835A= (p.Asp612=) c.1967A= (p.Asp656=) c.1832A= (p.Asp611=) n.2128A= | |
2 | g.71553132A>C | CA1705981 | DYSF | c.1874A>C (p.Asp625Ala) c.1928A>C (p.Asp643Ala) c.1877A>C (p.Asp626Ala) c.1925A>C (p.Asp642Ala) c.1970A>C (p.Asp657Ala) c.1835A>C (p.Asp612Ala) c.1967A>C (p.Asp656Ala) c.1832A>C (p.Asp611Ala) n.2128A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71553132A>G | CA347218659 | DYSF | c.1874A>G (p.Asp625Gly) c.1928A>G (p.Asp643Gly) c.1877A>G (p.Asp626Gly) c.1925A>G (p.Asp642Gly) c.1970A>G (p.Asp657Gly) c.1835A>G (p.Asp612Gly) c.1967A>G (p.Asp656Gly) c.1832A>G (p.Asp611Gly) n.2128A>G | |
2 | g.71553132A>T | CA347218660 | DYSF | c.1874A>T (p.Asp625Val) c.1928A>T (p.Asp643Val) c.1877A>T (p.Asp626Val) c.1925A>T (p.Asp642Val) c.1970A>T (p.Asp657Val) c.1835A>T (p.Asp612Val) c.1967A>T (p.Asp656Val) c.1832A>T (p.Asp611Val) n.2128A>T | |
2 | g.71553133C>A | CA347218661 | DYSF | c.1875C>A (p.Asp625Glu) c.1929C>A (p.Asp643Glu) c.1878C>A (p.Asp626Glu) c.1926C>A (p.Asp642Glu) c.1971C>A (p.Asp657Glu) c.1836C>A (p.Asp612Glu) c.1968C>A (p.Asp656Glu) c.1833C>A (p.Asp611Glu) n.2129C>A | dbSNP |
2 | g.71553133C= | CA1260095688 | DYSF | c.1875C= (p.Asp625=) c.1929C= (p.Asp643=) c.1878C= (p.Asp626=) c.1926C= (p.Asp642=) c.1971C= (p.Asp657=) c.1836C= (p.Asp612=) c.1968C= (p.Asp656=) c.1833C= (p.Asp611=) n.2129C= | |
2 | g.71553133C>G | CA347218662 | DYSF | c.1875C>G (p.Asp625Glu) c.1929C>G (p.Asp643Glu) c.1878C>G (p.Asp626Glu) c.1926C>G (p.Asp642Glu) c.1971C>G (p.Asp657Glu) c.1836C>G (p.Asp612Glu) c.1968C>G (p.Asp656Glu) c.1833C>G (p.Asp611Glu) n.2129C>G | |
2 | g.71553133C>T | CA426701328 | DYSF | c.1875C>T (p.Asp625=) c.1929C>T (p.Asp643=) c.1878C>T (p.Asp626=) c.1926C>T (p.Asp642=) c.1971C>T (p.Asp657=) c.1836C>T (p.Asp612=) c.1968C>T (p.Asp656=) c.1833C>T (p.Asp611=) n.2129C>T | |
2 | g.71553134A= | CA1260095689 | DYSF | c.1876A= (p.Met626=) c.1930A= (p.Met644=) c.1879A= (p.Met627=) c.1927A= (p.Met643=) c.1972A= (p.Met658=) c.1837A= (p.Met613=) c.1969A= (p.Met657=) c.1834A= (p.Met612=) n.2130A= | |
2 | g.71553134A>C | CA347218664 | DYSF | c.1876A>C (p.Met626Leu) c.1930A>C (p.Met644Leu) c.1879A>C (p.Met627Leu) c.1927A>C (p.Met643Leu) c.1972A>C (p.Met658Leu) c.1837A>C (p.Met613Leu) c.1969A>C (p.Met657Leu) c.1834A>C (p.Met612Leu) n.2130A>C | |
2 | g.71553134A>G | CA1705982 | DYSF | c.1876A>G (p.Met626Val) c.1930A>G (p.Met644Val) c.1879A>G (p.Met627Val) c.1927A>G (p.Met643Val) c.1972A>G (p.Met658Val) c.1837A>G (p.Met613Val) c.1969A>G (p.Met657Val) c.1834A>G (p.Met612Val) n.2130A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71553134A>T | CA347218663 | DYSF | c.1876A>T (p.Met626Leu) c.1930A>T (p.Met644Leu) c.1879A>T (p.Met627Leu) c.1927A>T (p.Met643Leu) c.1972A>T (p.Met658Leu) c.1837A>T (p.Met613Leu) c.1969A>T (p.Met657Leu) c.1834A>T (p.Met612Leu) n.2130A>T | |
2 | g.71553135T>A | CA347218665 | DYSF | c.1877T>A (p.Met626Lys) c.1931T>A (p.Met644Lys) c.1880T>A (p.Met627Lys) c.1928T>A (p.Met643Lys) c.1973T>A (p.Met658Lys) c.1838T>A (p.Met613Lys) c.1970T>A (p.Met657Lys) c.1835T>A (p.Met612Lys) n.2131T>A | |
2 | g.71553135T>C | CA1705983 | DYSF | c.1877T>C (p.Met626Thr) c.1931T>C (p.Met644Thr) c.1880T>C (p.Met627Thr) c.1928T>C (p.Met643Thr) c.1973T>C (p.Met658Thr) c.1838T>C (p.Met613Thr) c.1970T>C (p.Met657Thr) c.1835T>C (p.Met612Thr) n.2131T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71553135T>G | CA347218666 | DYSF | c.1877T>G (p.Met626Arg) c.1931T>G (p.Met644Arg) c.1880T>G (p.Met627Arg) c.1928T>G (p.Met643Arg) c.1973T>G (p.Met658Arg) c.1838T>G (p.Met613Arg) c.1970T>G (p.Met657Arg) c.1835T>G (p.Met612Arg) n.2131T>G | |
2 | g.71553135T= | CA1260095690 | DYSF | c.1877T= (p.Met626=) c.1931T= (p.Met644=) c.1880T= (p.Met627=) c.1928T= (p.Met643=) c.1973T= (p.Met658=) c.1838T= (p.Met613=) c.1970T= (p.Met657=) c.1835T= (p.Met612=) n.2131T= | |
2 | g.71553136G>A | CA347218667 | DYSF | c.1878G>A (p.Met626Ile) c.1932G>A (p.Met644Ile) c.1881G>A (p.Met627Ile) c.1929G>A (p.Met643Ile) c.1974G>A (p.Met658Ile) c.1839G>A (p.Met613Ile) c.1971G>A (p.Met657Ile) c.1836G>A (p.Met612Ile) n.2132G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71553136G>C | CA347218668 | DYSF | c.1878G>C (p.Met626Ile) c.1932G>C (p.Met644Ile) c.1881G>C (p.Met627Ile) c.1929G>C (p.Met643Ile) c.1974G>C (p.Met658Ile) c.1839G>C (p.Met613Ile) c.1971G>C (p.Met657Ile) c.1836G>C (p.Met612Ile) n.2132G>C | gnomAD v4 |
2 | g.71553136G= | CA1260095691 | DYSF | c.1878G= (p.Met626=) c.1932G= (p.Met644=) c.1881G= (p.Met627=) c.1929G= (p.Met643=) c.1974G= (p.Met658=) c.1839G= (p.Met613=) c.1971G= (p.Met657=) c.1836G= (p.Met612=) n.2132G= | |
2 | g.71553136G>T | CA347218669 | DYSF | c.1878G>T (p.Met626Ile) c.1932G>T (p.Met644Ile) c.1881G>T (p.Met627Ile) c.1929G>T (p.Met643Ile) c.1974G>T (p.Met658Ile) c.1839G>T (p.Met613Ile) c.1971G>T (p.Met657Ile) c.1836G>T (p.Met612Ile) n.2132G>T | |
2 | g.71553137A= | CA1260095692 | DYSF | c.1879A= (p.Thr627=) c.1933A= (p.Thr645=) c.1882A= (p.Thr628=) c.1930A= (p.Thr644=) c.1975A= (p.Thr659=) c.1840A= (p.Thr614=) c.1972A= (p.Thr658=) c.1837A= (p.Thr613=) n.2133A= | |
2 | g.71553137A>C | CA347218670 | DYSF | c.1879A>C (p.Thr627Pro) c.1933A>C (p.Thr645Pro) c.1882A>C (p.Thr628Pro) c.1930A>C (p.Thr644Pro) c.1975A>C (p.Thr659Pro) c.1840A>C (p.Thr614Pro) c.1972A>C (p.Thr658Pro) c.1837A>C (p.Thr613Pro) n.2133A>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71553137A>G | CA347218672 | DYSF | c.1879A>G (p.Thr627Ala) c.1933A>G (p.Thr645Ala) c.1882A>G (p.Thr628Ala) c.1930A>G (p.Thr644Ala) c.1975A>G (p.Thr659Ala) c.1840A>G (p.Thr614Ala) c.1972A>G (p.Thr658Ala) c.1837A>G (p.Thr613Ala) n.2133A>G | |
2 | g.71553137A>T | CA347218671 | DYSF | c.1879A>T (p.Thr627Ser) c.1933A>T (p.Thr645Ser) c.1882A>T (p.Thr628Ser) c.1930A>T (p.Thr644Ser) c.1975A>T (p.Thr659Ser) c.1840A>T (p.Thr614Ser) c.1972A>T (p.Thr658Ser) c.1837A>T (p.Thr613Ser) n.2133A>T | |
2 | g.71553138C>A | CA347218673 | DYSF | c.1880C>A (p.Thr627Asn) c.1934C>A (p.Thr645Asn) c.1883C>A (p.Thr628Asn) c.1931C>A (p.Thr644Asn) c.1976C>A (p.Thr659Asn) c.1841C>A (p.Thr614Asn) c.1973C>A (p.Thr658Asn) c.1838C>A (p.Thr613Asn) n.2134C>A | |
2 | g.71553138C= | CA1260095693 | DYSF | c.1880C= (p.Thr627=) c.1934C= (p.Thr645=) c.1883C= (p.Thr628=) c.1931C= (p.Thr644=) c.1976C= (p.Thr659=) c.1841C= (p.Thr614=) c.1973C= (p.Thr658=) c.1838C= (p.Thr613=) n.2134C= | |
2 | g.71553138C>G | CA347218674 | DYSF | c.1880C>G (p.Thr627Ser) c.1934C>G (p.Thr645Ser) c.1883C>G (p.Thr628Ser) c.1931C>G (p.Thr644Ser) c.1976C>G (p.Thr659Ser) c.1841C>G (p.Thr614Ser) c.1973C>G (p.Thr658Ser) c.1838C>G (p.Thr613Ser) n.2134C>G | |
2 | g.71553138C>T | CA347218675 | DYSF | c.1880C>T (p.Thr627Ile) c.1934C>T (p.Thr645Ile) c.1883C>T (p.Thr628Ile) c.1931C>T (p.Thr644Ile) c.1976C>T (p.Thr659Ile) c.1841C>T (p.Thr614Ile) c.1973C>T (p.Thr658Ile) c.1838C>T (p.Thr613Ile) n.2134C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71553139C>A | CA426701329 | DYSF | c.1881C>A (p.Thr627=) c.1935C>A (p.Thr645=) c.1884C>A (p.Thr628=) c.1932C>A (p.Thr644=) c.1977C>A (p.Thr659=) c.1842C>A (p.Thr614=) c.1974C>A (p.Thr658=) c.1839C>A (p.Thr613=) n.2135C>A | |
2 | g.71553139C= | CA1260095694 | DYSF | c.1881C= (p.Thr627=) c.1935C= (p.Thr645=) c.1884C= (p.Thr628=) c.1932C= (p.Thr644=) c.1977C= (p.Thr659=) c.1842C= (p.Thr614=) c.1974C= (p.Thr658=) c.1839C= (p.Thr613=) n.2135C= | |
2 | g.71553139C>G | CA426701330 | DYSF | c.1881C>G (p.Thr627=) c.1935C>G (p.Thr645=) c.1884C>G (p.Thr628=) c.1932C>G (p.Thr644=) c.1977C>G (p.Thr659=) c.1842C>G (p.Thr614=) c.1974C>G (p.Thr658=) c.1839C>G (p.Thr613=) n.2135C>G | |
2 | g.71553139C>T | CA426701331 | DYSF | c.1881C>T (p.Thr627=) c.1935C>T (p.Thr645=) c.1884C>T (p.Thr628=) c.1932C>T (p.Thr644=) c.1977C>T (p.Thr659=) c.1842C>T (p.Thr614=) c.1974C>T (p.Thr658=) c.1839C>T (p.Thr613=) n.2135C>T | dbSNP gnomAD v2 |
2 | g.71553140T>A | CA347218676 | DYSF | c.1882T>A (p.Cys628Ser) c.1936T>A (p.Cys646Ser) c.1885T>A (p.Cys629Ser) c.1933T>A (p.Cys645Ser) c.1978T>A (p.Cys660Ser) c.1843T>A (p.Cys615Ser) c.1975T>A (p.Cys659Ser) c.1840T>A (p.Cys614Ser) n.2136T>A | |
2 | g.71553140T>C | CA347218677 | DYSF | c.1882T>C (p.Cys628Arg) c.1936T>C (p.Cys646Arg) c.1885T>C (p.Cys629Arg) c.1933T>C (p.Cys645Arg) c.1978T>C (p.Cys660Arg) c.1843T>C (p.Cys615Arg) c.1975T>C (p.Cys659Arg) c.1840T>C (p.Cys614Arg) n.2136T>C | |
2 | g.71553140T>G | CA347218678 | DYSF | c.1882T>G (p.Cys628Gly) c.1936T>G (p.Cys646Gly) c.1885T>G (p.Cys629Gly) c.1933T>G (p.Cys645Gly) c.1978T>G (p.Cys660Gly) c.1843T>G (p.Cys615Gly) c.1975T>G (p.Cys659Gly) c.1840T>G (p.Cys614Gly) n.2136T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71553140T= | CA1260095695 | DYSF | c.1882T= (p.Cys628=) c.1936T= (p.Cys646=) c.1885T= (p.Cys629=) c.1933T= (p.Cys645=) c.1978T= (p.Cys660=) c.1843T= (p.Cys615=) c.1975T= (p.Cys659=) c.1840T= (p.Cys614=) n.2136T= | |
2 | g.71553141G>A | CA347218679 | DYSF | c.1883G>A (p.Cys628Tyr) c.1937G>A (p.Cys646Tyr) c.1886G>A (p.Cys629Tyr) c.1934G>A (p.Cys645Tyr) c.1979G>A (p.Cys660Tyr) c.1844G>A (p.Cys615Tyr) c.1976G>A (p.Cys659Tyr) c.1841G>A (p.Cys614Tyr) n.2137G>A | |
2 | g.71553141G>C | CA347218680 | DYSF | c.1883G>C (p.Cys628Ser) c.1937G>C (p.Cys646Ser) c.1886G>C (p.Cys629Ser) c.1934G>C (p.Cys645Ser) c.1979G>C (p.Cys660Ser) c.1844G>C (p.Cys615Ser) c.1976G>C (p.Cys659Ser) c.1841G>C (p.Cys614Ser) n.2137G>C | |
2 | g.71553141G>T | CA347218681 | DYSF | c.1883G>T (p.Cys628Phe) c.1937G>T (p.Cys646Phe) c.1886G>T (p.Cys629Phe) c.1934G>T (p.Cys645Phe) c.1979G>T (p.Cys660Phe) c.1844G>T (p.Cys615Phe) c.1976G>T (p.Cys659Phe) c.1841G>T (p.Cys614Phe) n.2137G>T | gnomAD v4 |
2 | g.71553142C>A | CA347218682 | DYSF | c.1884C>A (p.Cys628Ter) c.1938C>A (p.Cys646Ter) c.1887C>A (p.Cys629Ter) c.1935C>A (p.Cys645Ter) c.1980C>A (p.Cys660Ter) c.1845C>A (p.Cys615Ter) c.1977C>A (p.Cys659Ter) c.1842C>A (p.Cys614Ter) n.2138C>A | |
2 | g.71553142C= | CA1260095696 | DYSF | c.1884C= (p.Cys628=) c.1938C= (p.Cys646=) c.1887C= (p.Cys629=) c.1935C= (p.Cys645=) c.1980C= (p.Cys660=) c.1845C= (p.Cys615=) c.1977C= (p.Cys659=) c.1842C= (p.Cys614=) n.2138C= | |
2 | g.71553142C>G | CA347218683 | DYSF | c.1884C>G (p.Cys628Trp) c.1938C>G (p.Cys646Trp) c.1887C>G (p.Cys629Trp) c.1935C>G (p.Cys645Trp) c.1980C>G (p.Cys660Trp) c.1845C>G (p.Cys615Trp) c.1977C>G (p.Cys659Trp) c.1842C>G (p.Cys614Trp) n.2138C>G | |
2 | g.71553142C>T | CA426701332 | DYSF | c.1884C>T (p.Cys628=) c.1938C>T (p.Cys646=) c.1887C>T (p.Cys629=) c.1935C>T (p.Cys645=) c.1980C>T (p.Cys660=) c.1845C>T (p.Cys615=) c.1977C>T (p.Cys659=) c.1842C>T (p.Cys614=) n.2138C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71553143C>A | CA347218684 | DYSF | c.1885C>A (p.Leu629Met) c.1939C>A (p.Leu647Met) c.1888C>A (p.Leu630Met) c.1936C>A (p.Leu646Met) c.1981C>A (p.Leu661Met) c.1846C>A (p.Leu616Met) c.1978C>A (p.Leu660Met) c.1843C>A (p.Leu615Met) n.2139C>A | |
2 | g.71553143C= | CA1260095697 | DYSF | c.1885C= (p.Leu629=) c.1939C= (p.Leu647=) c.1888C= (p.Leu630=) c.1936C= (p.Leu646=) c.1981C= (p.Leu661=) c.1846C= (p.Leu616=) c.1978C= (p.Leu660=) c.1843C= (p.Leu615=) n.2139C= | |
2 | g.71553143C>G | CA347218685 | DYSF | c.1885C>G (p.Leu629Val) c.1939C>G (p.Leu647Val) c.1888C>G (p.Leu630Val) c.1936C>G (p.Leu646Val) c.1981C>G (p.Leu661Val) c.1846C>G (p.Leu616Val) c.1978C>G (p.Leu660Val) c.1843C>G (p.Leu615Val) n.2139C>G | |
2 | g.71553143C>T | CA1705984 | DYSF | c.1885C>T (p.Leu629=) c.1939C>T (p.Leu647=) c.1888C>T (p.Leu630=) c.1936C>T (p.Leu646=) c.1981C>T (p.Leu661=) c.1846C>T (p.Leu616=) c.1978C>T (p.Leu660=) c.1843C>T (p.Leu615=) n.2139C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71553144T>A | CA347218686 | DYSF | c.1886T>A (p.Leu629Gln) c.1940T>A (p.Leu647Gln) c.1889T>A (p.Leu630Gln) c.1937T>A (p.Leu646Gln) c.1982T>A (p.Leu661Gln) c.1847T>A (p.Leu616Gln) c.1979T>A (p.Leu660Gln) c.1844T>A (p.Leu615Gln) n.2140T>A | |
2 | g.71553144T>C | CA347218688 | DYSF | c.1886T>C (p.Leu629Pro) c.1940T>C (p.Leu647Pro) c.1889T>C (p.Leu630Pro) c.1937T>C (p.Leu646Pro) c.1982T>C (p.Leu661Pro) c.1847T>C (p.Leu616Pro) c.1979T>C (p.Leu660Pro) c.1844T>C (p.Leu615Pro) n.2140T>C | |
2 | g.71553144T>G | CA347218687 | DYSF | c.1886T>G (p.Leu629Arg) c.1940T>G (p.Leu647Arg) c.1889T>G (p.Leu630Arg) c.1937T>G (p.Leu646Arg) c.1982T>G (p.Leu661Arg) c.1847T>G (p.Leu616Arg) c.1979T>G (p.Leu660Arg) c.1844T>G (p.Leu615Arg) n.2140T>G | |
2 | g.71553145G>A | CA426701333 | DYSF | c.1887G>A (p.Leu629=) c.1941G>A (p.Leu647=) c.1890G>A (p.Leu630=) c.1938G>A (p.Leu646=) c.1983G>A (p.Leu661=) c.1848G>A (p.Leu616=) c.1980G>A (p.Leu660=) c.1845G>A (p.Leu615=) n.2141G>A | |
2 | g.71553145G>C | CA426701334 | DYSF | c.1887G>C (p.Leu629=) c.1941G>C (p.Leu647=) c.1890G>C (p.Leu630=) c.1938G>C (p.Leu646=) c.1983G>C (p.Leu661=) c.1848G>C (p.Leu616=) c.1980G>C (p.Leu660=) c.1845G>C (p.Leu615=) n.2141G>C | |
2 | g.71553145G>T | CA426701335 | DYSF | c.1887G>T (p.Leu629=) c.1941G>T (p.Leu647=) c.1890G>T (p.Leu630=) c.1938G>T (p.Leu646=) c.1983G>T (p.Leu661=) c.1848G>T (p.Leu616=) c.1980G>T (p.Leu660=) c.1845G>T (p.Leu615=) n.2141G>T | |
2 | g.71553146C>A | CA347218689 | DYSF | c.1888C>A (p.Pro630Thr) c.1942C>A (p.Pro648Thr) c.1891C>A (p.Pro631Thr) c.1939C>A (p.Pro647Thr) c.1984C>A (p.Pro662Thr) c.1849C>A (p.Pro617Thr) c.1981C>A (p.Pro661Thr) c.1846C>A (p.Pro616Thr) n.2142C>A | |
2 | g.71553146C= | CA1260095698 | DYSF | c.1888C= (p.Pro630=) c.1942C= (p.Pro648=) c.1891C= (p.Pro631=) c.1939C= (p.Pro647=) c.1984C= (p.Pro662=) c.1849C= (p.Pro617=) c.1981C= (p.Pro661=) c.1846C= (p.Pro616=) n.2142C= | |
2 | g.71553146C>G | CA347218690 | DYSF | c.1888C>G (p.Pro630Ala) c.1942C>G (p.Pro648Ala) c.1891C>G (p.Pro631Ala) c.1939C>G (p.Pro647Ala) c.1984C>G (p.Pro662Ala) c.1849C>G (p.Pro617Ala) c.1981C>G (p.Pro661Ala) c.1846C>G (p.Pro616Ala) n.2142C>G | |
2 | g.71553146C>T | CA347218691 | DYSF | c.1888C>T (p.Pro630Ser) c.1942C>T (p.Pro648Ser) c.1891C>T (p.Pro631Ser) c.1939C>T (p.Pro647Ser) c.1984C>T (p.Pro662Ser) c.1849C>T (p.Pro617Ser) c.1981C>T (p.Pro661Ser) c.1846C>T (p.Pro616Ser) n.2142C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71553147C>A | CA347218692 | DYSF | c.1889C>A (p.Pro630Gln) c.1943C>A (p.Pro648Gln) c.1892C>A (p.Pro631Gln) c.1940C>A (p.Pro647Gln) c.1985C>A (p.Pro662Gln) c.1850C>A (p.Pro617Gln) c.1982C>A (p.Pro661Gln) c.1847C>A (p.Pro616Gln) n.2143C>A | |
2 | g.71553147C= | CA1260095699 | DYSF | c.1889C= (p.Pro630=) c.1943C= (p.Pro648=) c.1892C= (p.Pro631=) c.1940C= (p.Pro647=) c.1985C= (p.Pro662=) c.1850C= (p.Pro617=) c.1982C= (p.Pro661=) c.1847C= (p.Pro616=) n.2143C= | |
2 | g.71553147C>G | CA347218693 | DYSF | c.1889C>G (p.Pro630Arg) c.1943C>G (p.Pro648Arg) c.1892C>G (p.Pro631Arg) c.1940C>G (p.Pro647Arg) c.1985C>G (p.Pro662Arg) c.1850C>G (p.Pro617Arg) c.1982C>G (p.Pro661Arg) c.1847C>G (p.Pro616Arg) n.2143C>G | |
2 | g.71553147C>T | CA1705985 | DYSF | c.1889C>T (p.Pro630Leu) c.1943C>T (p.Pro648Leu) c.1892C>T (p.Pro631Leu) c.1940C>T (p.Pro647Leu) c.1985C>T (p.Pro662Leu) c.1850C>T (p.Pro617Leu) c.1982C>T (p.Pro661Leu) c.1847C>T (p.Pro616Leu) n.2143C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71553148G>A | CA147730 | DYSF | c.1890G>A (p.Pro630=) c.1944G>A (p.Pro648=) c.1893G>A (p.Pro631=) c.1941G>A (p.Pro647=) c.1986G>A (p.Pro662=) c.1851G>A (p.Pro617=) c.1983G>A (p.Pro661=) c.1848G>A (p.Pro616=) n.2144G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71553148G>C | CA426701336 | DYSF | c.1890G>C (p.Pro630=) c.1944G>C (p.Pro648=) c.1893G>C (p.Pro631=) c.1941G>C (p.Pro647=) c.1986G>C (p.Pro662=) c.1851G>C (p.Pro617=) c.1983G>C (p.Pro661=) c.1848G>C (p.Pro616=) n.2144G>C | gnomAD v4 |
2 | g.71553148G= | CA1260095700 | DYSF | c.1890G= (p.Pro630=) c.1944G= (p.Pro648=) c.1893G= (p.Pro631=) c.1941G= (p.Pro647=) c.1986G= (p.Pro662=) c.1851G= (p.Pro617=) c.1983G= (p.Pro661=) c.1848G= (p.Pro616=) n.2144G= | |
2 | g.71553148G>T | CA1705986 | DYSF | c.1890G>T (p.Pro630=) c.1944G>T (p.Pro648=) c.1893G>T (p.Pro631=) c.1941G>T (p.Pro647=) c.1986G>T (p.Pro662=) c.1851G>T (p.Pro617=) c.1983G>T (p.Pro661=) c.1848G>T (p.Pro616=) n.2144G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71553149C>A | CA347218694 | DYSF | c.1891C>A (p.Leu631Met) c.1945C>A (p.Leu649Met) c.1894C>A (p.Leu632Met) c.1942C>A (p.Leu648Met) c.1987C>A (p.Leu663Met) c.1852C>A (p.Leu618Met) c.1984C>A (p.Leu662Met) c.1849C>A (p.Leu617Met) n.2145C>A | |
2 | g.71553149C>G | CA347218695 | DYSF | c.1891C>G (p.Leu631Val) c.1945C>G (p.Leu649Val) c.1894C>G (p.Leu632Val) c.1942C>G (p.Leu648Val) c.1987C>G (p.Leu663Val) c.1852C>G (p.Leu618Val) c.1984C>G (p.Leu662Val) c.1849C>G (p.Leu617Val) n.2145C>G | |
2 | g.71553149C>T | CA426701337 | DYSF | c.1891C>T (p.Leu631=) c.1945C>T (p.Leu649=) c.1894C>T (p.Leu632=) c.1942C>T (p.Leu648=) c.1987C>T (p.Leu663=) c.1852C>T (p.Leu618=) c.1984C>T (p.Leu662=) c.1849C>T (p.Leu617=) n.2145C>T | |
2 | g.71553150T>A | CA347218696 | DYSF | c.1892T>A (p.Leu631Gln) c.1946T>A (p.Leu649Gln) c.1895T>A (p.Leu632Gln) c.1943T>A (p.Leu648Gln) c.1988T>A (p.Leu663Gln) c.1853T>A (p.Leu618Gln) c.1985T>A (p.Leu662Gln) c.1850T>A (p.Leu617Gln) n.2146T>A | |
2 | g.71553150T>C | CA347218697 | DYSF | c.1892T>C (p.Leu631Pro) c.1946T>C (p.Leu649Pro) c.1895T>C (p.Leu632Pro) c.1943T>C (p.Leu648Pro) c.1988T>C (p.Leu663Pro) c.1853T>C (p.Leu618Pro) c.1985T>C (p.Leu662Pro) c.1850T>C (p.Leu617Pro) n.2146T>C | |
2 | g.71553150T>G | CA347218698 | DYSF | c.1892T>G (p.Leu631Arg) c.1946T>G (p.Leu649Arg) c.1895T>G (p.Leu632Arg) c.1943T>G (p.Leu648Arg) c.1988T>G (p.Leu663Arg) c.1853T>G (p.Leu618Arg) c.1985T>G (p.Leu662Arg) c.1850T>G (p.Leu617Arg) n.2146T>G | |
2 | g.71553151G>A | CA426701338 | DYSF | c.1893G>A (p.Leu631=) c.1947G>A (p.Leu649=) c.1896G>A (p.Leu632=) c.1944G>A (p.Leu648=) c.1989G>A (p.Leu663=) c.1854G>A (p.Leu618=) c.1986G>A (p.Leu662=) c.1851G>A (p.Leu617=) n.2147G>A | |
2 | g.71553151G>C | CA426701339 | DYSF | c.1893G>C (p.Leu631=) c.1947G>C (p.Leu649=) c.1896G>C (p.Leu632=) c.1944G>C (p.Leu648=) c.1989G>C (p.Leu663=) c.1854G>C (p.Leu618=) c.1986G>C (p.Leu662=) c.1851G>C (p.Leu617=) n.2147G>C | |
2 | g.71553151G>T | CA426701340 | DYSF | c.1893G>T (p.Leu631=) c.1947G>T (p.Leu649=) c.1896G>T (p.Leu632=) c.1944G>T (p.Leu648=) c.1989G>T (p.Leu663=) c.1854G>T (p.Leu618=) c.1986G>T (p.Leu662=) c.1851G>T (p.Leu617=) n.2147G>T | |
2 | g.71553152G>A | CA347218701 | DYSF | c.1894G>A (p.Ala632Thr) c.1948G>A (p.Ala650Thr) c.1897G>A (p.Ala633Thr) c.1945G>A (p.Ala649Thr) c.1990G>A (p.Ala664Thr) c.1855G>A (p.Ala619Thr) c.1987G>A (p.Ala663Thr) c.1852G>A (p.Ala618Thr) n.2148G>A | |
2 | g.71553152G>C | CA347218699 | DYSF | c.1894G>C (p.Ala632Pro) c.1948G>C (p.Ala650Pro) c.1897G>C (p.Ala633Pro) c.1945G>C (p.Ala649Pro) c.1990G>C (p.Ala664Pro) c.1855G>C (p.Ala619Pro) c.1987G>C (p.Ala663Pro) c.1852G>C (p.Ala618Pro) n.2148G>C | |
2 | g.71553152G>T | CA347218700 | DYSF | c.1894G>T (p.Ala632Ser) c.1948G>T (p.Ala650Ser) c.1897G>T (p.Ala633Ser) c.1945G>T (p.Ala649Ser) c.1990G>T (p.Ala664Ser) c.1855G>T (p.Ala619Ser) c.1987G>T (p.Ala663Ser) c.1852G>T (p.Ala618Ser) n.2148G>T | |
2 | g.71553153C>A | CA347218702 | DYSF | c.1895C>A (p.Ala632Asp) c.1949C>A (p.Ala650Asp) c.1898C>A (p.Ala633Asp) c.1946C>A (p.Ala649Asp) c.1991C>A (p.Ala664Asp) c.1856C>A (p.Ala619Asp) c.1988C>A (p.Ala663Asp) c.1853C>A (p.Ala618Asp) n.2149C>A | |
2 | g.71553153C>G | CA347218703 | DYSF | c.1895C>G (p.Ala632Gly) c.1949C>G (p.Ala650Gly) c.1898C>G (p.Ala633Gly) c.1946C>G (p.Ala649Gly) c.1991C>G (p.Ala664Gly) c.1856C>G (p.Ala619Gly) c.1988C>G (p.Ala663Gly) c.1853C>G (p.Ala618Gly) n.2149C>G | |
2 | g.71553153C>T | CA347218704 | DYSF | c.1895C>T (p.Ala632Val) c.1949C>T (p.Ala650Val) c.1898C>T (p.Ala633Val) c.1946C>T (p.Ala649Val) c.1991C>T (p.Ala664Val) c.1856C>T (p.Ala619Val) c.1988C>T (p.Ala663Val) c.1853C>T (p.Ala618Val) n.2149C>T | |
2 | g.71553154dup | CA2841138581 | DYSF | c.1896dup (p.Ser633LeufsTer11) c.1950dup (p.Ser651LeufsTer11) c.1899dup (p.Ser634LeufsTer11) c.1947dup (p.Ser650LeufsTer11) c.1992dup (p.Ser665LeufsTer11) c.1857dup (p.Ser620LeufsTer11) c.1989dup (p.Ser664LeufsTer11) c.1854dup (p.Ser619LeufsTer11) n.2150dup | |
2 | g.71553154C>A | CA426701341 | DYSF | c.1896C>A (p.Ala632=) c.1950C>A (p.Ala650=) c.1899C>A (p.Ala633=) c.1947C>A (p.Ala649=) c.1992C>A (p.Ala664=) c.1857C>A (p.Ala619=) c.1989C>A (p.Ala663=) c.1854C>A (p.Ala618=) n.2150C>A | |
2 | g.71553154C>G | CA426701342 | DYSF | c.1896C>G (p.Ala632=) c.1950C>G (p.Ala650=) c.1899C>G (p.Ala633=) c.1947C>G (p.Ala649=) c.1992C>G (p.Ala664=) c.1857C>G (p.Ala619=) c.1989C>G (p.Ala663=) c.1854C>G (p.Ala618=) n.2150C>G | |
2 | g.71553154C>T | CA426701343 | DYSF | c.1896C>T (p.Ala632=) c.1950C>T (p.Ala650=) c.1899C>T (p.Ala633=) c.1947C>T (p.Ala649=) c.1992C>T (p.Ala664=) c.1857C>T (p.Ala619=) c.1989C>T (p.Ala663=) c.1854C>T (p.Ala618=) n.2150C>T | |
2 | g.71553155T>A | CA347218705 | DYSF | c.1897T>A (p.Ser633Thr) c.1951T>A (p.Ser651Thr) c.1900T>A (p.Ser634Thr) c.1948T>A (p.Ser650Thr) c.1993T>A (p.Ser665Thr) c.1858T>A (p.Ser620Thr) c.1990T>A (p.Ser664Thr) c.1855T>A (p.Ser619Thr) n.2151T>A | |
2 | g.71553155T>C | CA347218706 | DYSF | c.1897T>C (p.Ser633Pro) c.1951T>C (p.Ser651Pro) c.1900T>C (p.Ser634Pro) c.1948T>C (p.Ser650Pro) c.1993T>C (p.Ser665Pro) c.1858T>C (p.Ser620Pro) c.1990T>C (p.Ser664Pro) c.1855T>C (p.Ser619Pro) n.2151T>C | |
2 | g.71553155T>G | CA347218707 | DYSF | c.1897T>G (p.Ser633Ala) c.1951T>G (p.Ser651Ala) c.1900T>G (p.Ser634Ala) c.1948T>G (p.Ser650Ala) c.1993T>G (p.Ser665Ala) c.1858T>G (p.Ser620Ala) c.1990T>G (p.Ser664Ala) c.1855T>G (p.Ser619Ala) n.2151T>G | |
2 | g.71553156C>A | CA347218708 | DYSF | c.1898C>A (p.Ser633Tyr) c.1952C>A (p.Ser651Tyr) c.1901C>A (p.Ser634Tyr) c.1949C>A (p.Ser650Tyr) c.1994C>A (p.Ser665Tyr) c.1859C>A (p.Ser620Tyr) c.1991C>A (p.Ser664Tyr) c.1856C>A (p.Ser619Tyr) n.2152C>A | |
2 | g.71553156C>G | CA347218709 | DYSF | c.1898C>G (p.Ser633Cys) c.1952C>G (p.Ser651Cys) c.1901C>G (p.Ser634Cys) c.1949C>G (p.Ser650Cys) c.1994C>G (p.Ser665Cys) c.1859C>G (p.Ser620Cys) c.1991C>G (p.Ser664Cys) c.1856C>G (p.Ser619Cys) n.2152C>G | |
2 | g.71553156C>T | CA347218710 | DYSF | c.1898C>T (p.Ser633Phe) c.1952C>T (p.Ser651Phe) c.1901C>T (p.Ser634Phe) c.1949C>T (p.Ser650Phe) c.1994C>T (p.Ser665Phe) c.1859C>T (p.Ser620Phe) c.1991C>T (p.Ser664Phe) c.1856C>T (p.Ser619Phe) n.2152C>T | |
2 | g.71553157C>A | CA426701344 | DYSF | c.1899C>A (p.Ser633=) c.1953C>A (p.Ser651=) c.1902C>A (p.Ser634=) c.1950C>A (p.Ser650=) c.1995C>A (p.Ser665=) c.1860C>A (p.Ser620=) c.1992C>A (p.Ser664=) c.1857C>A (p.Ser619=) n.2153C>A | |
2 | g.71553157C= | CA1260095701 | DYSF | c.1899C= (p.Ser633=) c.1953C= (p.Ser651=) c.1902C= (p.Ser634=) c.1950C= (p.Ser650=) c.1995C= (p.Ser665=) c.1860C= (p.Ser620=) c.1992C= (p.Ser664=) c.1857C= (p.Ser619=) n.2153C= | |
2 | g.71553157C>G | CA426701345 | DYSF | c.1899C>G (p.Ser633=) c.1953C>G (p.Ser651=) c.1902C>G (p.Ser634=) c.1950C>G (p.Ser650=) c.1995C>G (p.Ser665=) c.1860C>G (p.Ser620=) c.1992C>G (p.Ser664=) c.1857C>G (p.Ser619=) n.2153C>G | |
2 | g.71553157C>T | CA426701346 | DYSF | c.1899C>T (p.Ser633=) c.1953C>T (p.Ser651=) c.1902C>T (p.Ser634=) c.1950C>T (p.Ser650=) c.1995C>T (p.Ser665=) c.1860C>T (p.Ser620=) c.1992C>T (p.Ser664=) c.1857C>T (p.Ser619=) n.2153C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71553158A= | CA1260095702 | DYSF | c.1900A= (p.Thr634=) c.1954A= (p.Thr652=) c.1903A= (p.Thr635=) c.1951A= (p.Thr651=) c.1996A= (p.Thr666=) c.1861A= (p.Thr621=) c.1993A= (p.Thr665=) c.1858A= (p.Thr620=) n.2154A= | |
2 | g.71553158A>C | CA347218711 | DYSF | c.1900A>C (p.Thr634Pro) c.1954A>C (p.Thr652Pro) c.1903A>C (p.Thr635Pro) c.1951A>C (p.Thr651Pro) c.1996A>C (p.Thr666Pro) c.1861A>C (p.Thr621Pro) c.1993A>C (p.Thr665Pro) c.1858A>C (p.Thr620Pro) n.2154A>C | gnomAD v4 |
2 | g.71553158A>G | CA1705987 | DYSF | c.1900A>G (p.Thr634Ala) c.1954A>G (p.Thr652Ala) c.1903A>G (p.Thr635Ala) c.1951A>G (p.Thr651Ala) c.1996A>G (p.Thr666Ala) c.1861A>G (p.Thr621Ala) c.1993A>G (p.Thr665Ala) c.1858A>G (p.Thr620Ala) n.2154A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71553158A>T | CA347218712 | DYSF | c.1900A>T (p.Thr634Ser) c.1954A>T (p.Thr652Ser) c.1903A>T (p.Thr635Ser) c.1951A>T (p.Thr651Ser) c.1996A>T (p.Thr666Ser) c.1861A>T (p.Thr621Ser) c.1993A>T (p.Thr665Ser) c.1858A>T (p.Thr620Ser) n.2154A>T | |
2 | g.71553159C>A | CA347218713 | DYSF | c.1901C>A (p.Thr634Asn) c.1955C>A (p.Thr652Asn) c.1904C>A (p.Thr635Asn) c.1952C>A (p.Thr651Asn) c.1997C>A (p.Thr666Asn) c.1862C>A (p.Thr621Asn) c.1994C>A (p.Thr665Asn) c.1859C>A (p.Thr620Asn) n.2155C>A | |
2 | g.71553159C>G | CA347218715 | DYSF | c.1901C>G (p.Thr634Ser) c.1955C>G (p.Thr652Ser) c.1904C>G (p.Thr635Ser) c.1952C>G (p.Thr651Ser) c.1997C>G (p.Thr666Ser) c.1862C>G (p.Thr621Ser) c.1994C>G (p.Thr665Ser) c.1859C>G (p.Thr620Ser) n.2155C>G | |
2 | g.71553159C>T | CA347218714 | DYSF | c.1901C>T (p.Thr634Ile) c.1955C>T (p.Thr652Ile) c.1904C>T (p.Thr635Ile) c.1952C>T (p.Thr651Ile) c.1997C>T (p.Thr666Ile) c.1862C>T (p.Thr621Ile) c.1994C>T (p.Thr665Ile) c.1859C>T (p.Thr620Ile) n.2155C>T | gnomAD v4 |
2 | g.71553160C>A | CA426701347 | DYSF | c.1902C>A (p.Thr634=) c.1956C>A (p.Thr652=) c.1905C>A (p.Thr635=) c.1953C>A (p.Thr651=) c.1998C>A (p.Thr666=) c.1863C>A (p.Thr621=) c.1995C>A (p.Thr665=) c.1860C>A (p.Thr620=) n.2156C>A | |
2 | g.71553160C>G | CA426701348 | DYSF | c.1902C>G (p.Thr634=) c.1956C>G (p.Thr652=) c.1905C>G (p.Thr635=) c.1953C>G (p.Thr651=) c.1998C>G (p.Thr666=) c.1863C>G (p.Thr621=) c.1995C>G (p.Thr665=) c.1860C>G (p.Thr620=) n.2156C>G | |
2 | g.71553160C>T | CA426701349 | DYSF | c.1902C>T (p.Thr634=) c.1956C>T (p.Thr652=) c.1905C>T (p.Thr635=) c.1953C>T (p.Thr651=) c.1998C>T (p.Thr666=) c.1863C>T (p.Thr621=) c.1995C>T (p.Thr665=) c.1860C>T (p.Thr620=) n.2156C>T | ClinVar |
2 | g.71553161A>C | CA347218716 | DYSF | c.1903A>C (p.Thr635Pro) c.1957A>C (p.Thr653Pro) c.1906A>C (p.Thr636Pro) c.1954A>C (p.Thr652Pro) c.1999A>C (p.Thr667Pro) c.1864A>C (p.Thr622Pro) c.1996A>C (p.Thr666Pro) c.1861A>C (p.Thr621Pro) n.2157A>C | |
2 | g.71553161A>G | CA347218717 | DYSF | c.1903A>G (p.Thr635Ala) c.1957A>G (p.Thr653Ala) c.1906A>G (p.Thr636Ala) c.1954A>G (p.Thr652Ala) c.1999A>G (p.Thr667Ala) c.1864A>G (p.Thr622Ala) c.1996A>G (p.Thr666Ala) c.1861A>G (p.Thr621Ala) n.2157A>G | gnomAD v4 |
2 | g.71553161A>T | CA347218718 | DYSF | c.1903A>T (p.Thr635Ser) c.1957A>T (p.Thr653Ser) c.1906A>T (p.Thr636Ser) c.1954A>T (p.Thr652Ser) c.1999A>T (p.Thr667Ser) c.1864A>T (p.Thr622Ser) c.1996A>T (p.Thr666Ser) c.1861A>T (p.Thr621Ser) n.2157A>T | gnomAD v4 COSMIC COSMIC |
2 | g.71553162C>A | CA347218719 | DYSF | c.1904C>A (p.Thr635Asn) c.1958C>A (p.Thr653Asn) c.1907C>A (p.Thr636Asn) c.1955C>A (p.Thr652Asn) c.2000C>A (p.Thr667Asn) c.1865C>A (p.Thr622Asn) c.1997C>A (p.Thr666Asn) c.1862C>A (p.Thr621Asn) n.2158C>A | |
2 | g.71553162C= | CA1260095703 | DYSF | c.1904C= (p.Thr635=) c.1958C= (p.Thr653=) c.1907C= (p.Thr636=) c.1955C= (p.Thr652=) c.2000C= (p.Thr667=) c.1865C= (p.Thr622=) c.1997C= (p.Thr666=) c.1862C= (p.Thr621=) n.2158C= | |
2 | g.71553162C>G | CA347218720 | DYSF | c.1904C>G (p.Thr635Ser) c.1958C>G (p.Thr653Ser) c.1907C>G (p.Thr636Ser) c.1955C>G (p.Thr652Ser) c.2000C>G (p.Thr667Ser) c.1865C>G (p.Thr622Ser) c.1997C>G (p.Thr666Ser) c.1862C>G (p.Thr621Ser) n.2158C>G | |
2 | g.71553162C>T | CA347218721 | DYSF | c.1904C>T (p.Thr635Ile) c.1958C>T (p.Thr653Ile) c.1907C>T (p.Thr636Ile) c.1955C>T (p.Thr652Ile) c.2000C>T (p.Thr667Ile) c.1865C>T (p.Thr622Ile) c.1997C>T (p.Thr666Ile) c.1862C>T (p.Thr621Ile) n.2158C>T | dbSNP |
2 | g.71553163T>A | CA426701351 | DYSF | c.1905T>A (p.Thr635=) c.1959T>A (p.Thr653=) c.1908T>A (p.Thr636=) c.1956T>A (p.Thr652=) c.2001T>A (p.Thr667=) c.1866T>A (p.Thr622=) c.1998T>A (p.Thr666=) c.1863T>A (p.Thr621=) n.2159T>A | |
2 | g.71553163T>C | CA426701352 | DYSF | c.1905T>C (p.Thr635=) c.1959T>C (p.Thr653=) c.1908T>C (p.Thr636=) c.1956T>C (p.Thr652=) c.2001T>C (p.Thr667=) c.1866T>C (p.Thr622=) c.1998T>C (p.Thr666=) c.1863T>C (p.Thr621=) n.2159T>C | gnomAD v4 |
2 | g.71553163T>G | CA426701350 | DYSF | c.1905T>G (p.Thr635=) c.1959T>G (p.Thr653=) c.1908T>G (p.Thr636=) c.1956T>G (p.Thr652=) c.2001T>G (p.Thr667=) c.1866T>G (p.Thr622=) c.1998T>G (p.Thr666=) c.1863T>G (p.Thr621=) n.2159T>G | ClinVar dbSNP |
2 | g.71553164C>A | CA347218722 | DYSF | c.1906C>A (p.Gln636Lys) c.1960C>A (p.Gln654Lys) c.1909C>A (p.Gln637Lys) c.1957C>A (p.Gln653Lys) c.2002C>A (p.Gln668Lys) c.1867C>A (p.Gln623Lys) c.1999C>A (p.Gln667Lys) c.1864C>A (p.Gln622Lys) n.2160C>A | |
2 | g.71553164C>G | CA347218723 | DYSF | c.1906C>G (p.Gln636Glu) c.1960C>G (p.Gln654Glu) c.1909C>G (p.Gln637Glu) c.1957C>G (p.Gln653Glu) c.2002C>G (p.Gln668Glu) c.1867C>G (p.Gln623Glu) c.1999C>G (p.Gln667Glu) c.1864C>G (p.Gln622Glu) n.2160C>G | COSMIC COSMIC |
2 | g.71553164C>T | CA347218724 | DYSF | c.1906C>T (p.Gln636Ter) c.1960C>T (p.Gln654Ter) c.1909C>T (p.Gln637Ter) c.1957C>T (p.Gln653Ter) c.2002C>T (p.Gln668Ter) c.1867C>T (p.Gln623Ter) c.1999C>T (p.Gln667Ter) c.1864C>T (p.Gln622Ter) n.2160C>T | |
2 | g.71553165A>C | CA347218725 | DYSF | c.1907A>C (p.Gln636Pro) c.1961A>C (p.Gln654Pro) c.1910A>C (p.Gln637Pro) c.1958A>C (p.Gln653Pro) c.2003A>C (p.Gln668Pro) c.1868A>C (p.Gln623Pro) c.2000A>C (p.Gln667Pro) c.1865A>C (p.Gln622Pro) n.2161A>C | |
2 | g.71553165A>G | CA347218726 | DYSF | c.1907A>G (p.Gln636Arg) c.1961A>G (p.Gln654Arg) c.1910A>G (p.Gln637Arg) c.1958A>G (p.Gln653Arg) c.2003A>G (p.Gln668Arg) c.1868A>G (p.Gln623Arg) c.2000A>G (p.Gln667Arg) c.1865A>G (p.Gln622Arg) n.2161A>G | gnomAD v4 |
2 | g.71553165A>T | CA347218727 | DYSF | c.1907A>T (p.Gln636Leu) c.1961A>T (p.Gln654Leu) c.1910A>T (p.Gln637Leu) c.1958A>T (p.Gln653Leu) c.2003A>T (p.Gln668Leu) c.1868A>T (p.Gln623Leu) c.2000A>T (p.Gln667Leu) c.1865A>T (p.Gln622Leu) n.2161A>T | |
2 | g.71553166G>A | CA426701353 | DYSF | c.1908G>A (p.Gln636=) c.1962G>A (p.Gln654=) c.1911G>A (p.Gln637=) c.1959G>A (p.Gln653=) c.2004G>A (p.Gln668=) c.1869G>A (p.Gln623=) c.2001G>A (p.Gln667=) c.1866G>A (p.Gln622=) n.2162G>A | ClinVar |
2 | g.71553166G>C | CA347218729 | DYSF | c.1908G>C (p.Gln636His) c.1962G>C (p.Gln654His) c.1911G>C (p.Gln637His) c.1959G>C (p.Gln653His) c.2004G>C (p.Gln668His) c.1869G>C (p.Gln623His) c.2001G>C (p.Gln667His) c.1866G>C (p.Gln622His) n.2162G>C | |
2 | g.71553166G>T | CA347218728 | DYSF | c.1908G>T (p.Gln636His) c.1962G>T (p.Gln654His) c.1911G>T (p.Gln637His) c.1959G>T (p.Gln653His) c.2004G>T (p.Gln668His) c.1869G>T (p.Gln623His) c.2001G>T (p.Gln667His) c.1866G>T (p.Gln622His) n.2162G>T | |
2 | g.71553167T>A | CA347218730 | DYSF | c.1909T>A (p.Tyr637Asn) c.1963T>A (p.Tyr655Asn) c.1912T>A (p.Tyr638Asn) c.1960T>A (p.Tyr654Asn) c.2005T>A (p.Tyr669Asn) c.1870T>A (p.Tyr624Asn) c.2002T>A (p.Tyr668Asn) c.1867T>A (p.Tyr623Asn) n.2163T>A | |
2 | g.71553167T>C | CA347218731 | DYSF | c.1909T>C (p.Tyr637His) c.1963T>C (p.Tyr655His) c.1912T>C (p.Tyr638His) c.1960T>C (p.Tyr654His) c.2005T>C (p.Tyr669His) c.1870T>C (p.Tyr624His) c.2002T>C (p.Tyr668His) c.1867T>C (p.Tyr623His) n.2163T>C | dbSNP gnomAD v2 |
2 | g.71553167T>G | CA347218732 | DYSF | c.1909T>G (p.Tyr637Asp) c.1963T>G (p.Tyr655Asp) c.1912T>G (p.Tyr638Asp) c.1960T>G (p.Tyr654Asp) c.2005T>G (p.Tyr669Asp) c.1870T>G (p.Tyr624Asp) c.2002T>G (p.Tyr668Asp) c.1867T>G (p.Tyr623Asp) n.2163T>G | |
2 | g.71553167T= | CA1260095704 | DYSF | c.1909T= (p.Tyr637=) c.1963T= (p.Tyr655=) c.1912T= (p.Tyr638=) c.1960T= (p.Tyr654=) c.2005T= (p.Tyr669=) c.1870T= (p.Tyr624=) c.2002T= (p.Tyr668=) c.1867T= (p.Tyr623=) n.2163T= | |
2 | g.71553168A>C | CA347218733 | DYSF | c.1910A>C (p.Tyr637Ser) c.1964A>C (p.Tyr655Ser) c.1913A>C (p.Tyr638Ser) c.1961A>C (p.Tyr654Ser) c.2006A>C (p.Tyr669Ser) c.1871A>C (p.Tyr624Ser) c.2003A>C (p.Tyr668Ser) c.1868A>C (p.Tyr623Ser) n.2164A>C | |
2 | g.71553168A>G | CA347218734 | DYSF | c.1910A>G (p.Tyr637Cys) c.1964A>G (p.Tyr655Cys) c.1913A>G (p.Tyr638Cys) c.1961A>G (p.Tyr654Cys) c.2006A>G (p.Tyr669Cys) c.1871A>G (p.Tyr624Cys) c.2003A>G (p.Tyr668Cys) c.1868A>G (p.Tyr623Cys) n.2164A>G | |
2 | g.71553168A>T | CA347218735 | DYSF | c.1910A>T (p.Tyr637Phe) c.1964A>T (p.Tyr655Phe) c.1913A>T (p.Tyr638Phe) c.1961A>T (p.Tyr654Phe) c.2006A>T (p.Tyr669Phe) c.1871A>T (p.Tyr624Phe) c.2003A>T (p.Tyr668Phe) c.1868A>T (p.Tyr623Phe) n.2164A>T | |
2 | g.71553169C>A | CA347218736 | DYSF | c.1911C>A (p.Tyr637Ter) c.1965C>A (p.Tyr655Ter) c.1914C>A (p.Tyr638Ter) c.1962C>A (p.Tyr654Ter) c.2007C>A (p.Tyr669Ter) c.1872C>A (p.Tyr624Ter) c.2004C>A (p.Tyr668Ter) c.1869C>A (p.Tyr623Ter) n.2165C>A | ClinVar dbSNP gnomAD v4 |
2 | g.71553169C= | CA1260095705 | DYSF | c.1911C= (p.Tyr637=) c.1965C= (p.Tyr655=) c.1914C= (p.Tyr638=) c.1962C= (p.Tyr654=) c.2007C= (p.Tyr669=) c.1872C= (p.Tyr624=) c.2004C= (p.Tyr668=) c.1869C= (p.Tyr623=) n.2165C= | |
2 | g.71553169C>G | CA347218737 | DYSF | c.1911C>G (p.Tyr637Ter) c.1965C>G (p.Tyr655Ter) c.1914C>G (p.Tyr638Ter) c.1962C>G (p.Tyr654Ter) c.2007C>G (p.Tyr669Ter) c.1872C>G (p.Tyr624Ter) c.2004C>G (p.Tyr668Ter) c.1869C>G (p.Tyr623Ter) n.2165C>G | ClinVar dbSNP |
2 | g.71553169C>T | CA1705988 | DYSF | c.1911C>T (p.Tyr637=) c.1965C>T (p.Tyr655=) c.1914C>T (p.Tyr638=) c.1962C>T (p.Tyr654=) c.2007C>T (p.Tyr669=) c.1872C>T (p.Tyr624=) c.2004C>T (p.Tyr668=) c.1869C>T (p.Tyr623=) n.2165C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71553170A= | CA1260095706 | DYSF | c.1912A= (p.Ser638=) c.1966A= (p.Ser656=) c.1915A= (p.Ser639=) c.1963A= (p.Ser655=) c.2008A= (p.Ser670=) c.1873A= (p.Ser625=) c.2005A= (p.Ser669=) c.1870A= (p.Ser624=) n.2166A= | |
2 | g.71553170A>C | CA1705989 | DYSF | c.1912A>C (p.Ser638Arg) c.1966A>C (p.Ser656Arg) c.1915A>C (p.Ser639Arg) c.1963A>C (p.Ser655Arg) c.2008A>C (p.Ser670Arg) c.1873A>C (p.Ser625Arg) c.2005A>C (p.Ser669Arg) c.1870A>C (p.Ser624Arg) n.2166A>C | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.71553170A>G | CA347218738 | DYSF | c.1912A>G (p.Ser638Gly) c.1966A>G (p.Ser656Gly) c.1915A>G (p.Ser639Gly) c.1963A>G (p.Ser655Gly) c.2008A>G (p.Ser670Gly) c.1873A>G (p.Ser625Gly) c.2005A>G (p.Ser669Gly) c.1870A>G (p.Ser624Gly) n.2166A>G | gnomAD v4 |
2 | g.71553170A>T | CA347218739 | DYSF | c.1912A>T (p.Ser638Cys) c.1966A>T (p.Ser656Cys) c.1915A>T (p.Ser639Cys) c.1963A>T (p.Ser655Cys) c.2008A>T (p.Ser670Cys) c.1873A>T (p.Ser625Cys) c.2005A>T (p.Ser669Cys) c.1870A>T (p.Ser624Cys) n.2166A>T | |
2 | g.71553171G>A | CA347218741 | DYSF | c.1913G>A (p.Ser638Asn) c.1967G>A (p.Ser656Asn) c.1916G>A (p.Ser639Asn) c.1964G>A (p.Ser655Asn) c.2009G>A (p.Ser670Asn) c.1874G>A (p.Ser625Asn) c.2006G>A (p.Ser669Asn) c.1871G>A (p.Ser624Asn) n.2167G>A | |
2 | g.71553171G>C | CA347218742 | DYSF | c.1913G>C (p.Ser638Thr) c.1967G>C (p.Ser656Thr) c.1916G>C (p.Ser639Thr) c.1964G>C (p.Ser655Thr) c.2009G>C (p.Ser670Thr) c.1874G>C (p.Ser625Thr) c.2006G>C (p.Ser669Thr) c.1871G>C (p.Ser624Thr) n.2167G>C | |
2 | g.71553171G>T | CA347218740 | DYSF | c.1913G>T (p.Ser638Ile) c.1967G>T (p.Ser656Ile) c.1916G>T (p.Ser639Ile) c.1964G>T (p.Ser655Ile) c.2009G>T (p.Ser670Ile) c.1874G>T (p.Ser625Ile) c.2006G>T (p.Ser669Ile) c.1871G>T (p.Ser624Ile) n.2167G>T | |
2 | g.71553172C>A | CA347218744 | DYSF | c.1914C>A (p.Ser638Arg) c.1968C>A (p.Ser656Arg) c.1917C>A (p.Ser639Arg) c.1965C>A (p.Ser655Arg) c.2010C>A (p.Ser670Arg) c.1875C>A (p.Ser625Arg) c.2007C>A (p.Ser669Arg) c.1872C>A (p.Ser624Arg) n.2168C>A | ClinVar dbSNP gnomAD v4 |
2 | g.71553172C= | CA1260095707 | DYSF | c.1914C= (p.Ser638=) c.1968C= (p.Ser656=) c.1917C= (p.Ser639=) c.1965C= (p.Ser655=) c.2010C= (p.Ser670=) c.1875C= (p.Ser625=) c.2007C= (p.Ser669=) c.1872C= (p.Ser624=) n.2168C= | |
2 | g.71553172C>G | CA347218743 | DYSF | c.1914C>G (p.Ser638Arg) c.1968C>G (p.Ser656Arg) c.1917C>G (p.Ser639Arg) c.1965C>G (p.Ser655Arg) c.2010C>G (p.Ser670Arg) c.1875C>G (p.Ser625Arg) c.2007C>G (p.Ser669Arg) c.1872C>G (p.Ser624Arg) n.2168C>G | dbSNP |
2 | g.71553172C>T | CA426701354 | DYSF | c.1914C>T (p.Ser638=) c.1968C>T (p.Ser656=) c.1917C>T (p.Ser639=) c.1965C>T (p.Ser655=) c.2010C>T (p.Ser670=) c.1875C>T (p.Ser625=) c.2007C>T (p.Ser669=) c.1872C>T (p.Ser624=) n.2168C>T | gnomAD v4 |
2 | g.71553173C>A | CA347218745 | DYSF | c.1915C>A (p.Arg639Ser) c.1969C>A (p.Arg657Ser) c.1918C>A (p.Arg640Ser) c.1966C>A (p.Arg656Ser) c.2011C>A (p.Arg671Ser) c.1876C>A (p.Arg626Ser) c.2008C>A (p.Arg670Ser) c.1873C>A (p.Arg625Ser) n.2169C>A | |
2 | g.71553173C= | CA1260095708 | DYSF | c.1915C= (p.Arg639=) c.1969C= (p.Arg657=) c.1918C= (p.Arg640=) c.1966C= (p.Arg656=) c.2011C= (p.Arg671=) c.1876C= (p.Arg626=) c.2008C= (p.Arg670=) c.1873C= (p.Arg625=) n.2169C= | |
2 | g.71553173C>G | CA347218746 | DYSF | c.1915C>G (p.Arg639Gly) c.1969C>G (p.Arg657Gly) c.1918C>G (p.Arg640Gly) c.1966C>G (p.Arg656Gly) c.2011C>G (p.Arg671Gly) c.1876C>G (p.Arg626Gly) c.2008C>G (p.Arg670Gly) c.1873C>G (p.Arg625Gly) n.2169C>G | |
2 | g.71553173C>T | CA1705990 | DYSF | c.1915C>T (p.Arg639Cys) c.1969C>T (p.Arg657Cys) c.1918C>T (p.Arg640Cys) c.1966C>T (p.Arg656Cys) c.2011C>T (p.Arg671Cys) c.1876C>T (p.Arg626Cys) c.2008C>T (p.Arg670Cys) c.1873C>T (p.Arg625Cys) n.2169C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71553174G>A | CA1705991 | DYSF | c.1916G>A (p.Arg639His) c.1970G>A (p.Arg657His) c.1919G>A (p.Arg640His) c.1967G>A (p.Arg656His) c.2012G>A (p.Arg671His) c.1877G>A (p.Arg626His) c.2009G>A (p.Arg670His) c.1874G>A (p.Arg625His) n.2170G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71553174G>C | CA1705992 | DYSF | c.1916G>C (p.Arg639Pro) c.1970G>C (p.Arg657Pro) c.1919G>C (p.Arg640Pro) c.1967G>C (p.Arg656Pro) c.2012G>C (p.Arg671Pro) c.1877G>C (p.Arg626Pro) c.2009G>C (p.Arg670Pro) c.1874G>C (p.Arg625Pro) n.2170G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71553174G= | CA1260095709 | DYSF | c.1916G= (p.Arg639=) c.1970G= (p.Arg657=) c.1919G= (p.Arg640=) c.1967G= (p.Arg656=) c.2012G= (p.Arg671=) c.1877G= (p.Arg626=) c.2009G= (p.Arg670=) c.1874G= (p.Arg625=) n.2170G= | |
2 | g.71553174G>T | CA347218747 | DYSF | c.1916G>T (p.Arg639Leu) c.1970G>T (p.Arg657Leu) c.1919G>T (p.Arg640Leu) c.1967G>T (p.Arg656Leu) c.2012G>T (p.Arg671Leu) c.1877G>T (p.Arg626Leu) c.2009G>T (p.Arg670Leu) c.1874G>T (p.Arg625Leu) n.2170G>T | gnomAD v4 |
2 | g.71553175T>A | CA426701355 | DYSF | c.1917T>A (p.Arg639=) c.1971T>A (p.Arg657=) c.1920T>A (p.Arg640=) c.1968T>A (p.Arg656=) c.2013T>A (p.Arg671=) c.1878T>A (p.Arg626=) c.2010T>A (p.Arg670=) c.1875T>A (p.Arg625=) n.2171T>A | |
2 | g.71553175T>C | CA426701356 | DYSF | c.1917T>C (p.Arg639=) c.1971T>C (p.Arg657=) c.1920T>C (p.Arg640=) c.1968T>C (p.Arg656=) c.2013T>C (p.Arg671=) c.1878T>C (p.Arg626=) c.2010T>C (p.Arg670=) c.1875T>C (p.Arg625=) n.2171T>C | |
2 | g.71553175T>G | CA426701357 | DYSF | c.1917T>G (p.Arg639=) c.1971T>G (p.Arg657=) c.1920T>G (p.Arg640=) c.1968T>G (p.Arg656=) c.2013T>G (p.Arg671=) c.1878T>G (p.Arg626=) c.2010T>G (p.Arg670=) c.1875T>G (p.Arg625=) n.2171T>G | |
2 | g.71553176G>A | CA1705993 | DYSF | c.1918G>A (p.Ala640Thr) c.1972G>A (p.Ala658Thr) c.1921G>A (p.Ala641Thr) c.1969G>A (p.Ala657Thr) c.2014G>A (p.Ala672Thr) c.1879G>A (p.Ala627Thr) c.2011G>A (p.Ala671Thr) c.1876G>A (p.Ala626Thr) n.2172G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71553176G>C | CA347218748 | DYSF | c.1918G>C (p.Ala640Pro) c.1972G>C (p.Ala658Pro) c.1921G>C (p.Ala641Pro) c.1969G>C (p.Ala657Pro) c.2014G>C (p.Ala672Pro) c.1879G>C (p.Ala627Pro) c.2011G>C (p.Ala671Pro) c.1876G>C (p.Ala626Pro) n.2172G>C | |
2 | g.71553176G= | CA1260095710 | DYSF | c.1918G= (p.Ala640=) c.1972G= (p.Ala658=) c.1921G= (p.Ala641=) c.1969G= (p.Ala657=) c.2014G= (p.Ala672=) c.1879G= (p.Ala627=) c.2011G= (p.Ala671=) c.1876G= (p.Ala626=) n.2172G= | |
2 | g.71553176G>T | CA347218749 | DYSF | c.1918G>T (p.Ala640Ser) c.1972G>T (p.Ala658Ser) c.1921G>T (p.Ala641Ser) c.1969G>T (p.Ala657Ser) c.2014G>T (p.Ala672Ser) c.1879G>T (p.Ala627Ser) c.2011G>T (p.Ala671Ser) c.1876G>T (p.Ala626Ser) n.2172G>T | |
2 | g.71553177C>A | CA347218750 | DYSF | c.1919C>A (p.Ala640Glu) c.1973C>A (p.Ala658Glu) c.1922C>A (p.Ala641Glu) c.1970C>A (p.Ala657Glu) c.2015C>A (p.Ala672Glu) c.1880C>A (p.Ala627Glu) c.2012C>A (p.Ala671Glu) c.1877C>A (p.Ala626Glu) n.2173C>A | |
2 | g.71553177C>G | CA347218751 | DYSF | c.1919C>G (p.Ala640Gly) c.1973C>G (p.Ala658Gly) c.1922C>G (p.Ala641Gly) c.1970C>G (p.Ala657Gly) c.2015C>G (p.Ala672Gly) c.1880C>G (p.Ala627Gly) c.2012C>G (p.Ala671Gly) c.1877C>G (p.Ala626Gly) n.2173C>G | |
2 | g.71553177C>T | CA347218752 | DYSF | c.1919C>T (p.Ala640Val) c.1973C>T (p.Ala658Val) c.1922C>T (p.Ala641Val) c.1970C>T (p.Ala657Val) c.2015C>T (p.Ala672Val) c.1880C>T (p.Ala627Val) c.2012C>T (p.Ala671Val) c.1877C>T (p.Ala626Val) n.2173C>T | |
2 | g.71553178A= | CA1260095711 | DYSF | c.1920A= (p.Ala640=) c.1974A= (p.Ala658=) c.1923A= (p.Ala641=) c.1971A= (p.Ala657=) c.2016A= (p.Ala672=) c.1881A= (p.Ala627=) c.2013A= (p.Ala671=) c.1878A= (p.Ala626=) n.2174A= | |
2 | g.71553178A>C | CA426701358 | DYSF | c.1920A>C (p.Ala640=) c.1974A>C (p.Ala658=) c.1923A>C (p.Ala641=) c.1971A>C (p.Ala657=) c.2016A>C (p.Ala672=) c.1881A>C (p.Ala627=) c.2013A>C (p.Ala671=) c.1878A>C (p.Ala626=) n.2174A>C | |
2 | g.71553178A>G | CA426701359 | DYSF | c.1920A>G (p.Ala640=) c.1974A>G (p.Ala658=) c.1923A>G (p.Ala641=) c.1971A>G (p.Ala657=) c.2016A>G (p.Ala672=) c.1881A>G (p.Ala627=) c.2013A>G (p.Ala671=) c.1878A>G (p.Ala626=) n.2174A>G | ClinVar gnomAD v4 |
2 | g.71553178A>T | CA426701360 | DYSF | c.1920A>T (p.Ala640=) c.1974A>T (p.Ala658=) c.1923A>T (p.Ala641=) c.1971A>T (p.Ala657=) c.2016A>T (p.Ala672=) c.1881A>T (p.Ala627=) c.2013A>T (p.Ala671=) c.1878A>T (p.Ala626=) n.2174A>T | |
2 | g.71553179G>A | CA347218753 | DYSF | c.1921G>A (p.Val641Ile) c.1975G>A (p.Val659Ile) c.1924G>A (p.Val642Ile) c.1972G>A (p.Val658Ile) c.2017G>A (p.Val673Ile) c.1882G>A (p.Val628Ile) c.2014G>A (p.Val672Ile) c.1879G>A (p.Val627Ile) n.2175G>A | gnomAD v4 |
2 | g.71553179G>C | CA347218755 | DYSF | c.1921G>C (p.Val641Leu) c.1975G>C (p.Val659Leu) c.1924G>C (p.Val642Leu) c.1972G>C (p.Val658Leu) c.2017G>C (p.Val673Leu) c.1882G>C (p.Val628Leu) c.2014G>C (p.Val672Leu) c.1879G>C (p.Val627Leu) n.2175G>C | |
2 | g.71553179G>T | CA347218754 | DYSF | c.1921G>T (p.Val641Phe) c.1975G>T (p.Val659Phe) c.1924G>T (p.Val642Phe) c.1972G>T (p.Val658Phe) c.2017G>T (p.Val673Phe) c.1882G>T (p.Val628Phe) c.2014G>T (p.Val672Phe) c.1879G>T (p.Val627Phe) n.2175G>T | |
2 | g.71553180_71553191dup | CA913190078 | DYSF | c.1922_1930+3dup c.1976_1984+3dup c.1925_1933+3dup c.1973_1981+3dup c.2018_2026+3dup c.1883_1891+3dup c.2015_2023+3dup c.1880_1888+3dup n.2176_2184+3dup | ClinVar dbSNP |
2 | g.71553180T>A | CA347218756 | DYSF | c.1922T>A (p.Val641Asp) c.1976T>A (p.Val659Asp) c.1925T>A (p.Val642Asp) c.1973T>A (p.Val658Asp) c.2018T>A (p.Val673Asp) c.1883T>A (p.Val628Asp) c.2015T>A (p.Val672Asp) c.1880T>A (p.Val627Asp) n.2176T>A | |
2 | g.71553180T>C | CA347218757 | DYSF | c.1922T>C (p.Val641Ala) c.1976T>C (p.Val659Ala) c.1925T>C (p.Val642Ala) c.1973T>C (p.Val658Ala) c.2018T>C (p.Val673Ala) c.1883T>C (p.Val628Ala) c.2015T>C (p.Val672Ala) c.1880T>C (p.Val627Ala) n.2176T>C | |
2 | g.71553180T>G | CA347218758 | DYSF | c.1922T>G (p.Val641Gly) c.1976T>G (p.Val659Gly) c.1925T>G (p.Val642Gly) c.1973T>G (p.Val658Gly) c.2018T>G (p.Val673Gly) c.1883T>G (p.Val628Gly) c.2015T>G (p.Val672Gly) c.1880T>G (p.Val627Gly) n.2176T>G | |
2 | g.71553181C>A | CA426701361 | DYSF | c.1923C>A (p.Val641=) c.1977C>A (p.Val659=) c.1926C>A (p.Val642=) c.1974C>A (p.Val658=) c.2019C>A (p.Val673=) c.1884C>A (p.Val628=) c.2016C>A (p.Val672=) c.1881C>A (p.Val627=) n.2177C>A | |
2 | g.71553181C>G | CA426701362 | DYSF | c.1923C>G (p.Val641=) c.1977C>G (p.Val659=) c.1926C>G (p.Val642=) c.1974C>G (p.Val658=) c.2019C>G (p.Val673=) c.1884C>G (p.Val628=) c.2016C>G (p.Val672=) c.1881C>G (p.Val627=) n.2177C>G | |
2 | g.71553181C>T | CA426701363 | DYSF | c.1923C>T (p.Val641=) c.1977C>T (p.Val659=) c.1926C>T (p.Val642=) c.1974C>T (p.Val658=) c.2019C>T (p.Val673=) c.1884C>T (p.Val628=) c.2016C>T (p.Val672=) c.1881C>T (p.Val627=) n.2177C>T | ClinVar |
2 | g.71553182T>A | CA347218759 | DYSF | c.1924T>A (p.Phe642Ile) c.1978T>A (p.Phe660Ile) c.1927T>A (p.Phe643Ile) c.1975T>A (p.Phe659Ile) c.2020T>A (p.Phe674Ile) c.1885T>A (p.Phe629Ile) c.2017T>A (p.Phe673Ile) c.1882T>A (p.Phe628Ile) n.2178T>A | |
2 | g.71553182T>C | CA347218760 | DYSF | c.1924T>C (p.Phe642Leu) c.1978T>C (p.Phe660Leu) c.1927T>C (p.Phe643Leu) c.1975T>C (p.Phe659Leu) c.2020T>C (p.Phe674Leu) c.1885T>C (p.Phe629Leu) c.2017T>C (p.Phe673Leu) c.1882T>C (p.Phe628Leu) n.2178T>C | |
2 | g.71553182T>G | CA347218761 | DYSF | c.1924T>G (p.Phe642Val) c.1978T>G (p.Phe660Val) c.1927T>G (p.Phe643Val) c.1975T>G (p.Phe659Val) c.2020T>G (p.Phe674Val) c.1885T>G (p.Phe629Val) c.2017T>G (p.Phe673Val) c.1882T>G (p.Phe628Val) n.2178T>G | |
2 | g.71553183T>A | CA347218762 | DYSF | c.1925T>A (p.Phe642Tyr) c.1979T>A (p.Phe660Tyr) c.1928T>A (p.Phe643Tyr) c.1976T>A (p.Phe659Tyr) c.2021T>A (p.Phe674Tyr) c.1886T>A (p.Phe629Tyr) c.2018T>A (p.Phe673Tyr) c.1883T>A (p.Phe628Tyr) n.2179T>A | |
2 | g.71553183T>C | CA347218763 | DYSF | c.1925T>C (p.Phe642Ser) c.1979T>C (p.Phe660Ser) c.1928T>C (p.Phe643Ser) c.1976T>C (p.Phe659Ser) c.2021T>C (p.Phe674Ser) c.1886T>C (p.Phe629Ser) c.2018T>C (p.Phe673Ser) c.1883T>C (p.Phe628Ser) n.2179T>C | |
2 | g.71553183T>G | CA347218764 | DYSF | c.1925T>G (p.Phe642Cys) c.1979T>G (p.Phe660Cys) c.1928T>G (p.Phe643Cys) c.1976T>G (p.Phe659Cys) c.2021T>G (p.Phe674Cys) c.1886T>G (p.Phe629Cys) c.2018T>G (p.Phe673Cys) c.1883T>G (p.Phe628Cys) n.2179T>G | |
2 | g.71553184T>A | CA347218765 | DYSF | c.1926T>A (p.Phe642Leu) c.1980T>A (p.Phe660Leu) c.1929T>A (p.Phe643Leu) c.1977T>A (p.Phe659Leu) c.2022T>A (p.Phe674Leu) c.1887T>A (p.Phe629Leu) c.2019T>A (p.Phe673Leu) c.1884T>A (p.Phe628Leu) n.2180T>A | |
2 | g.71553184T>C | CA426701364 | DYSF | c.1926T>C (p.Phe642=) c.1980T>C (p.Phe660=) c.1929T>C (p.Phe643=) c.1977T>C (p.Phe659=) c.2022T>C (p.Phe674=) c.1887T>C (p.Phe629=) c.2019T>C (p.Phe673=) c.1884T>C (p.Phe628=) n.2180T>C | |
2 | g.71553184T>G | CA347218766 | DYSF | c.1926T>G (p.Phe642Leu) c.1980T>G (p.Phe660Leu) c.1929T>G (p.Phe643Leu) c.1977T>G (p.Phe659Leu) c.2022T>G (p.Phe674Leu) c.1887T>G (p.Phe629Leu) c.2019T>G (p.Phe673Leu) c.1884T>G (p.Phe628Leu) n.2180T>G | |
2 | g.71553185G>A | CA347218768 | DYSF | c.1927G>A (p.Asp643Asn) c.1981G>A (p.Asp661Asn) c.1930G>A (p.Asp644Asn) c.1978G>A (p.Asp660Asn) c.2023G>A (p.Asp675Asn) c.1888G>A (p.Asp630Asn) c.2020G>A (p.Asp674Asn) c.1885G>A (p.Asp629Asn) n.2181G>A | |
2 | g.71553185G>C | CA347218769 | DYSF | c.1927G>C (p.Asp643His) c.1981G>C (p.Asp661His) c.1930G>C (p.Asp644His) c.1978G>C (p.Asp660His) c.2023G>C (p.Asp675His) c.1888G>C (p.Asp630His) c.2020G>C (p.Asp674His) c.1885G>C (p.Asp629His) n.2181G>C | |
2 | g.71553185G>T | CA347218767 | DYSF | c.1927G>T (p.Asp643Tyr) c.1981G>T (p.Asp661Tyr) c.1930G>T (p.Asp644Tyr) c.1978G>T (p.Asp660Tyr) c.2023G>T (p.Asp675Tyr) c.1888G>T (p.Asp630Tyr) c.2020G>T (p.Asp674Tyr) c.1885G>T (p.Asp629Tyr) n.2181G>T | |
2 | g.71553186A>C | CA347218770 | DYSF | c.1928A>C (p.Asp643Ala) c.1982A>C (p.Asp661Ala) c.1931A>C (p.Asp644Ala) c.1979A>C (p.Asp660Ala) c.2024A>C (p.Asp675Ala) c.1889A>C (p.Asp630Ala) c.2021A>C (p.Asp674Ala) c.1886A>C (p.Asp629Ala) n.2182A>C | |
2 | g.71553186A>G | CA347218771 | DYSF | c.1928A>G (p.Asp643Gly) c.1982A>G (p.Asp661Gly) c.1931A>G (p.Asp644Gly) c.1979A>G (p.Asp660Gly) c.2024A>G (p.Asp675Gly) c.1889A>G (p.Asp630Gly) c.2021A>G (p.Asp674Gly) c.1886A>G (p.Asp629Gly) n.2182A>G | |
2 | g.71553186A>T | CA347218772 | DYSF | c.1928A>T (p.Asp643Val) c.1982A>T (p.Asp661Val) c.1931A>T (p.Asp644Val) c.1979A>T (p.Asp660Val) c.2024A>T (p.Asp675Val) c.1889A>T (p.Asp630Val) c.2021A>T (p.Asp674Val) c.1886A>T (p.Asp629Val) n.2182A>T | |
2 | g.71553187del | CA2838562545 | DYSF | c.1929del (p.Asp643GlufsTer13) c.1983del (p.Asp661GlufsTer13) c.1932del (p.Asp644GlufsTer13) c.1980del (p.Asp660GlufsTer13) c.2025del (p.Asp675GlufsTer13) c.1890del (p.Asp630GlufsTer13) c.2022del (p.Asp674GlufsTer13) c.1887del (p.Asp629GlufsTer13) n.2183del | |
2 | g.71553187C>A | CA347218773 | DYSF | c.1929C>A (p.Asp643Glu) c.1983C>A (p.Asp661Glu) c.1932C>A (p.Asp644Glu) c.1980C>A (p.Asp660Glu) c.2025C>A (p.Asp675Glu) c.1890C>A (p.Asp630Glu) c.2022C>A (p.Asp674Glu) c.1887C>A (p.Asp629Glu) n.2183C>A | |
2 | g.71553187C= | CA1260095712 | DYSF | c.1929C= (p.Asp643=) c.1983C= (p.Asp661=) c.1932C= (p.Asp644=) c.1980C= (p.Asp660=) c.2025C= (p.Asp675=) c.1890C= (p.Asp630=) c.2022C= (p.Asp674=) c.1887C= (p.Asp629=) n.2183C= | |
2 | g.71553187C>G | CA347218774 | DYSF | c.1929C>G (p.Asp643Glu) c.1983C>G (p.Asp661Glu) c.1932C>G (p.Asp644Glu) c.1980C>G (p.Asp660Glu) c.2025C>G (p.Asp675Glu) c.1890C>G (p.Asp630Glu) c.2022C>G (p.Asp674Glu) c.1887C>G (p.Asp629Glu) n.2183C>G | COSMIC COSMIC |
2 | g.71553187C>T | CA1705994 | DYSF | c.1929C>T (p.Asp643=) c.1983C>T (p.Asp661=) c.1932C>T (p.Asp644=) c.1980C>T (p.Asp660=) c.2025C>T (p.Asp675=) c.1890C>T (p.Asp630=) c.2022C>T (p.Asp674=) c.1887C>T (p.Asp629=) n.2183C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.71553188G>A | CA1705995 | DYSF | c.1930G>A (p.Gly644Arg) c.1984G>A (p.Gly662Arg) c.1933G>A (p.Gly645Arg) c.1981G>A (p.Gly661Arg) c.2026G>A (p.Gly676Arg) c.1891G>A (p.Gly631Arg) c.2023G>A (p.Gly675Arg) c.1888G>A (p.Gly630Arg) n.2184G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71553188G>C | CA347218775 | DYSF | c.1930G>C (p.Gly644Arg) c.1984G>C (p.Gly662Arg) c.1933G>C (p.Gly645Arg) c.1981G>C (p.Gly661Arg) c.2026G>C (p.Gly676Arg) c.1891G>C (p.Gly631Arg) c.2023G>C (p.Gly675Arg) c.1888G>C (p.Gly630Arg) n.2184G>C | gnomAD v4 |
2 | g.71553188G= | CA1260095713 | DYSF | c.1930G= (p.Gly644=) c.1984G= (p.Gly662=) c.1933G= (p.Gly645=) c.1981G= (p.Gly661=) c.2026G= (p.Gly676=) c.1891G= (p.Gly631=) c.2023G= (p.Gly675=) c.1888G= (p.Gly630=) n.2184G= | |
2 | g.71553188G>T | CA347218776 | DYSF | c.1930G>T (p.Gly644Trp) c.1984G>T (p.Gly662Trp) c.1933G>T (p.Gly645Trp) c.1981G>T (p.Gly661Trp) c.2026G>T (p.Gly676Trp) c.1891G>T (p.Gly631Trp) c.2023G>T (p.Gly675Trp) c.1888G>T (p.Gly630Trp) n.2184G>T | |
2 | g.71553189del | CA2586969591 | DYSF | c.1930+1del c.1984+1del c.1933+1del c.1981+1del c.2026+1del c.1891+1del c.2023+1del c.1888+1del n.2184+1del | |
2 | g.71553189G>A | CA347218777 | DYSF | c.1930+1G>A (n.1930+1G>A) c.1984+1G>A (n.1984+1G>A) c.1933+1G>A (n.1933+1G>A) c.1981+1G>A (n.1981+1G>A) c.2026+1G>A (n.2026+1G>A) c.1891+1G>A (n.1891+1G>A) c.2023+1G>A (n.2023+1G>A) c.1888+1G>A (n.1888+1G>A) n.2184+1G>A | |
2 | g.71553189G>C | CA347218778 | DYSF | c.1930+1G>C (n.1930+1G>C) c.1984+1G>C (n.1984+1G>C) c.1933+1G>C (n.1933+1G>C) c.1981+1G>C (n.1981+1G>C) c.2026+1G>C (n.2026+1G>C) c.1891+1G>C (n.1891+1G>C) c.2023+1G>C (n.2023+1G>C) c.1888+1G>C (n.1888+1G>C) n.2184+1G>C | |
2 | g.71553189G>T | CA347218779 | DYSF | c.1930+1G>T (n.1930+1G>T) c.1984+1G>T (n.1984+1G>T) c.1933+1G>T (n.1933+1G>T) c.1981+1G>T (n.1981+1G>T) c.2026+1G>T (n.2026+1G>T) c.1891+1G>T (n.1891+1G>T) c.2023+1G>T (n.2023+1G>T) c.1888+1G>T (n.1888+1G>T) n.2184+1G>T | |
2 | g.71553190T>A | CA347218781 | DYSF | c.1930+2T>A (n.1930+2T>A) c.1984+2T>A (n.1984+2T>A) c.1933+2T>A (n.1933+2T>A) c.1981+2T>A (n.1981+2T>A) c.2026+2T>A (n.2026+2T>A) c.1891+2T>A (n.1891+2T>A) c.2023+2T>A (n.2023+2T>A) c.1888+2T>A (n.1888+2T>A) n.2184+2T>A | ClinVar |
2 | g.71553190T>C | CA347218782 | DYSF | c.1930+2T>C (n.1930+2T>C) c.1984+2T>C (n.1984+2T>C) c.1933+2T>C (n.1933+2T>C) c.1981+2T>C (n.1981+2T>C) c.2026+2T>C (n.2026+2T>C) c.1891+2T>C (n.1891+2T>C) c.2023+2T>C (n.2023+2T>C) c.1888+2T>C (n.1888+2T>C) n.2184+2T>C | ClinVar dbSNP |
2 | g.71553190T>G | CA347218780 | DYSF | c.1930+2T>G (n.1930+2T>G) c.1984+2T>G (n.1984+2T>G) c.1933+2T>G (n.1933+2T>G) c.1981+2T>G (n.1981+2T>G) c.2026+2T>G (n.2026+2T>G) c.1891+2T>G (n.1891+2T>G) c.2023+2T>G (n.2023+2T>G) c.1888+2T>G (n.1888+2T>G) n.2184+2T>G | |
2 | g.71553191G>A | CA1705996 | DYSF | c.1930+3G>A (n.1930+3G>A) c.1984+3G>A (n.1984+3G>A) c.1933+3G>A (n.1933+3G>A) c.1981+3G>A (n.1981+3G>A) c.2026+3G>A (n.2026+3G>A) c.1891+3G>A (n.1891+3G>A) c.2023+3G>A (n.2023+3G>A) c.1888+3G>A (n.1888+3G>A) n.2184+3G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71553191G= | CA1260095714 | DYSF | c.1930+3G= (n.1930+3G=) c.1984+3G= (n.1984+3G=) c.1933+3G= (n.1933+3G=) c.1981+3G= (n.1981+3G=) c.2026+3G= (n.2026+3G=) c.1891+3G= (n.1891+3G=) c.2023+3G= (n.2023+3G=) c.1888+3G= (n.1888+3G=) n.2184+3G= | |
2 | g.71553191G>T | CA2564317319 | DYSF | c.1930+3G>T (n.1930+3G>T) c.1984+3G>T (n.1984+3G>T) c.1933+3G>T (n.1933+3G>T) c.1981+3G>T (n.1981+3G>T) c.2026+3G>T (n.2026+3G>T) c.1891+3G>T (n.1891+3G>T) c.2023+3G>T (n.2023+3G>T) c.1888+3G>T (n.1888+3G>T) n.2184+3G>T | |
2 | g.71553192_71553193del | CA2659547056 | DYSF | c.1930+4_1930+5del (n.1930+4_1930+5del) c.1984+4_1984+5del (n.1984+4_1984+5del) c.1933+4_1933+5del (n.1933+4_1933+5del) c.1981+4_1981+5del (n.1981+4_1981+5del) c.2026+4_2026+5del (n.2026+4_2026+5del) c.1891+4_1891+5del (n.1891+4_1891+5del) c.2023+4_2023+5del (n.2023+4_2023+5del) c.1888+4_1888+5del (n.1888+4_1888+5del) n.2184+4_2184+5del | gnomAD v4 |
2 | g.71553194G= | CA1260095715 | DYSF | c.1930+6G= (n.1930+6G=) c.1984+6G= (n.1984+6G=) c.1933+6G= (n.1933+6G=) c.1981+6G= (n.1981+6G=) c.2026+6G= (n.2026+6G=) c.1891+6G= (n.1891+6G=) c.2023+6G= (n.2023+6G=) c.1888+6G= (n.1888+6G=) n.2184+6G= | |
2 | g.71553194G>T | CA1260095716 | DYSF | c.1930+6G>T (n.1930+6G>T) c.1984+6G>T (n.1984+6G>T) c.1933+6G>T (n.1933+6G>T) c.1981+6G>T (n.1981+6G>T) c.2026+6G>T (n.2026+6G>T) c.1891+6G>T (n.1891+6G>T) c.2023+6G>T (n.2023+6G>T) c.1888+6G>T (n.1888+6G>T) n.2184+6G>T | dbSNP gnomAD v4 |
2 | g.71553195C>T | CA645535486 | DYSF | c.1930+7C>T (n.1930+7C>T) c.1984+7C>T (n.1984+7C>T) c.1933+7C>T (n.1933+7C>T) c.1981+7C>T (n.1981+7C>T) c.2026+7C>T (n.2026+7C>T) c.1891+7C>T (n.1891+7C>T) c.2023+7C>T (n.2023+7C>T) c.1888+7C>T (n.1888+7C>T) n.2184+7C>T | COSMIC COSMIC |
2 | g.71553196A>T | CA2499216206 | DYSF | c.1930+8A>T (n.1930+8A>T) c.1984+8A>T (n.1984+8A>T) c.1933+8A>T (n.1933+8A>T) c.1981+8A>T (n.1981+8A>T) c.2026+8A>T (n.2026+8A>T) c.1891+8A>T (n.1891+8A>T) c.2023+8A>T (n.2023+8A>T) c.1888+8A>T (n.1888+8A>T) n.2184+8A>T | ClinVar dbSNP gnomAD v4 |
2 | g.71553197G>A | CA533655592 | DYSF | c.1930+9G>A (n.1930+9G>A) c.1984+9G>A (n.1984+9G>A) c.1933+9G>A (n.1933+9G>A) c.1981+9G>A (n.1981+9G>A) c.2026+9G>A (n.2026+9G>A) c.1891+9G>A (n.1891+9G>A) c.2023+9G>A (n.2023+9G>A) c.1888+9G>A (n.1888+9G>A) n.2184+9G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71553197G= | CA1260095717 | DYSF | c.1930+9G= (n.1930+9G=) c.1984+9G= (n.1984+9G=) c.1933+9G= (n.1933+9G=) c.1981+9G= (n.1981+9G=) c.2026+9G= (n.2026+9G=) c.1891+9G= (n.1891+9G=) c.2023+9G= (n.2023+9G=) c.1888+9G= (n.1888+9G=) n.2184+9G= | |
2 | g.71553199G>A | CA533655593 | DYSF | c.1930+11G>A (n.1930+11G>A) c.1984+11G>A (n.1984+11G>A) c.1933+11G>A (n.1933+11G>A) c.1981+11G>A (n.1981+11G>A) c.2026+11G>A (n.2026+11G>A) c.1891+11G>A (n.1891+11G>A) c.2023+11G>A (n.2023+11G>A) c.1888+11G>A (n.1888+11G>A) n.2184+11G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71553199G= | CA1260095718 | DYSF | c.1930+11G= (n.1930+11G=) c.1984+11G= (n.1984+11G=) c.1933+11G= (n.1933+11G=) c.1981+11G= (n.1981+11G=) c.2026+11G= (n.2026+11G=) c.1891+11G= (n.1891+11G=) c.2023+11G= (n.2023+11G=) c.1888+11G= (n.1888+11G=) n.2184+11G= | |
2 | g.71553200C>A | CA1705997 | DYSF | c.1930+12C>A (n.1930+12C>A) c.1984+12C>A (n.1984+12C>A) c.1933+12C>A (n.1933+12C>A) c.1981+12C>A (n.1981+12C>A) c.2026+12C>A (n.2026+12C>A) c.1891+12C>A (n.1891+12C>A) c.2023+12C>A (n.2023+12C>A) c.1888+12C>A (n.1888+12C>A) n.2184+12C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71553200C= | CA1260095719 | DYSF | c.1930+12C= (n.1930+12C=) c.1984+12C= (n.1984+12C=) c.1933+12C= (n.1933+12C=) c.1981+12C= (n.1981+12C=) c.2026+12C= (n.2026+12C=) c.1891+12C= (n.1891+12C=) c.2023+12C= (n.2023+12C=) c.1888+12C= (n.1888+12C=) n.2184+12C= | |
2 | g.71553202C= | CA1260095720 | DYSF | c.1930+14C= (n.1930+14C=) c.1984+14C= (n.1984+14C=) c.1933+14C= (n.1933+14C=) c.1981+14C= (n.1981+14C=) c.2026+14C= (n.2026+14C=) c.1891+14C= (n.1891+14C=) c.2023+14C= (n.2023+14C=) c.1888+14C= (n.1888+14C=) n.2184+14C= | |
2 | g.71553202C>T | CA1705998 | DYSF | c.1930+14C>T (n.1930+14C>T) c.1984+14C>T (n.1984+14C>T) c.1933+14C>T (n.1933+14C>T) c.1981+14C>T (n.1981+14C>T) c.2026+14C>T (n.2026+14C>T) c.1891+14C>T (n.1891+14C>T) c.2023+14C>T (n.2023+14C>T) c.1888+14C>T (n.1888+14C>T) n.2184+14C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71553203C= | CA1260095721 | DYSF | c.1930+15C= (n.1930+15C=) c.1984+15C= (n.1984+15C=) c.1933+15C= (n.1933+15C=) c.1981+15C= (n.1981+15C=) c.2026+15C= (n.2026+15C=) c.1891+15C= (n.1891+15C=) c.2023+15C= (n.2023+15C=) c.1888+15C= (n.1888+15C=) n.2184+15C= | |
2 | g.71553203C>T | CA533655594 | DYSF | c.1930+15C>T (n.1930+15C>T) c.1984+15C>T (n.1984+15C>T) c.1933+15C>T (n.1933+15C>T) c.1981+15C>T (n.1981+15C>T) c.2026+15C>T (n.2026+15C>T) c.1891+15C>T (n.1891+15C>T) c.2023+15C>T (n.2023+15C>T) c.1888+15C>T (n.1888+15C>T) n.2184+15C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71553204T>C | CA2659547087 | DYSF | c.1930+16T>C (n.1930+16T>C) c.1984+16T>C (n.1984+16T>C) c.1933+16T>C (n.1933+16T>C) c.1981+16T>C (n.1981+16T>C) c.2026+16T>C (n.2026+16T>C) c.1891+16T>C (n.1891+16T>C) c.2023+16T>C (n.2023+16T>C) c.1888+16T>C (n.1888+16T>C) n.2184+16T>C | gnomAD v4 |
2 | g.71553206G>T | CA2841138582 | DYSF | c.1930+18G>T (n.1930+18G>T) c.1984+18G>T (n.1984+18G>T) c.1933+18G>T (n.1933+18G>T) c.1981+18G>T (n.1981+18G>T) c.2026+18G>T (n.2026+18G>T) c.1891+18G>T (n.1891+18G>T) c.2023+18G>T (n.2023+18G>T) c.1888+18G>T (n.1888+18G>T) n.2184+18G>T | |
2 | g.71553207C>A | CA2659547095 | DYSF | c.1930+19C>A (n.1930+19C>A) c.1984+19C>A (n.1984+19C>A) c.1933+19C>A (n.1933+19C>A) c.1981+19C>A (n.1981+19C>A) c.2026+19C>A (n.2026+19C>A) c.1891+19C>A (n.1891+19C>A) c.2023+19C>A (n.2023+19C>A) c.1888+19C>A (n.1888+19C>A) n.2184+19C>A | gnomAD v4 |
2 | g.71553207C= | CA1260095722 | DYSF | c.1930+19C= (n.1930+19C=) c.1984+19C= (n.1984+19C=) c.1933+19C= (n.1933+19C=) c.1981+19C= (n.1981+19C=) c.2026+19C= (n.2026+19C=) c.1891+19C= (n.1891+19C=) c.2023+19C= (n.2023+19C=) c.1888+19C= (n.1888+19C=) n.2184+19C= | |
2 | g.71553207C>T | CA1705999 | DYSF | c.1930+19C>T (n.1930+19C>T) c.1984+19C>T (n.1984+19C>T) c.1933+19C>T (n.1933+19C>T) c.1981+19C>T (n.1981+19C>T) c.2026+19C>T (n.2026+19C>T) c.1891+19C>T (n.1891+19C>T) c.2023+19C>T (n.2023+19C>T) c.1888+19C>T (n.1888+19C>T) n.2184+19C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71553211G>A | CA892689600 | DYSF | c.1930+23G>A (n.1930+23G>A) c.1984+23G>A (n.1984+23G>A) c.1933+23G>A (n.1933+23G>A) c.1981+23G>A (n.1981+23G>A) c.2026+23G>A (n.2026+23G>A) c.1891+23G>A (n.1891+23G>A) c.2023+23G>A (n.2023+23G>A) c.1888+23G>A (n.1888+23G>A) n.2184+23G>A | dbSNP gnomAD v4 |
2 | g.71553211G= | CA1260095723 | DYSF | c.1930+23G= (n.1930+23G=) c.1984+23G= (n.1984+23G=) c.1933+23G= (n.1933+23G=) c.1981+23G= (n.1981+23G=) c.2026+23G= (n.2026+23G=) c.1891+23G= (n.1891+23G=) c.2023+23G= (n.2023+23G=) c.1888+23G= (n.1888+23G=) n.2184+23G= | |
2 | g.71553212A>C | CA2577000262 | DYSF | c.1930+24A>C (n.1930+24A>C) c.1984+24A>C (n.1984+24A>C) c.1933+24A>C (n.1933+24A>C) c.1981+24A>C (n.1981+24A>C) c.2026+24A>C (n.2026+24A>C) c.1891+24A>C (n.1891+24A>C) c.2023+24A>C (n.2023+24A>C) c.1888+24A>C (n.1888+24A>C) n.2184+24A>C | gnomAD v4 |
2 | g.71553213C>G | CA2659547106 | DYSF | c.1930+25C>G (n.1930+25C>G) c.1984+25C>G (n.1984+25C>G) c.1933+25C>G (n.1933+25C>G) c.1981+25C>G (n.1981+25C>G) c.2026+25C>G (n.2026+25C>G) c.1891+25C>G (n.1891+25C>G) c.2023+25C>G (n.2023+25C>G) c.1888+25C>G (n.1888+25C>G) n.2184+25C>G | gnomAD v4 |
2 | g.71553213C>T | CA2659547107 | DYSF | c.1930+25C>T (n.1930+25C>T) c.1984+25C>T (n.1984+25C>T) c.1933+25C>T (n.1933+25C>T) c.1981+25C>T (n.1981+25C>T) c.2026+25C>T (n.2026+25C>T) c.1891+25C>T (n.1891+25C>T) c.2023+25C>T (n.2023+25C>T) c.1888+25C>T (n.1888+25C>T) n.2184+25C>T | gnomAD v4 |
2 | g.71553214C= | CA1260095724 | DYSF | c.1930+26C= (n.1930+26C=) c.1984+26C= (n.1984+26C=) c.1933+26C= (n.1933+26C=) c.1981+26C= (n.1981+26C=) c.2026+26C= (n.2026+26C=) c.1891+26C= (n.1891+26C=) c.2023+26C= (n.2023+26C=) c.1888+26C= (n.1888+26C=) n.2184+26C= | |
2 | g.71553214C>G | CA1260095725 | DYSF | c.1930+26C>G (n.1930+26C>G) c.1984+26C>G (n.1984+26C>G) c.1933+26C>G (n.1933+26C>G) c.1981+26C>G (n.1981+26C>G) c.2026+26C>G (n.2026+26C>G) c.1891+26C>G (n.1891+26C>G) c.2023+26C>G (n.2023+26C>G) c.1888+26C>G (n.1888+26C>G) n.2184+26C>G | dbSNP |
2 | g.71553215C>A | CA2841138583 | DYSF | c.1930+27C>A (n.1930+27C>A) c.1984+27C>A (n.1984+27C>A) c.1933+27C>A (n.1933+27C>A) c.1981+27C>A (n.1981+27C>A) c.2026+27C>A (n.2026+27C>A) c.1891+27C>A (n.1891+27C>A) c.2023+27C>A (n.2023+27C>A) c.1888+27C>A (n.1888+27C>A) n.2184+27C>A | |
2 | g.71553215C= | CA1260095726 | DYSF | c.1930+27C= (n.1930+27C=) c.1984+27C= (n.1984+27C=) c.1933+27C= (n.1933+27C=) c.1981+27C= (n.1981+27C=) c.2026+27C= (n.2026+27C=) c.1891+27C= (n.1891+27C=) c.2023+27C= (n.2023+27C=) c.1888+27C= (n.1888+27C=) n.2184+27C= | |
2 | g.71553215C>T | CA1260095727 | DYSF | c.1930+27C>T (n.1930+27C>T) c.1984+27C>T (n.1984+27C>T) c.1933+27C>T (n.1933+27C>T) c.1981+27C>T (n.1981+27C>T) c.2026+27C>T (n.2026+27C>T) c.1891+27C>T (n.1891+27C>T) c.2023+27C>T (n.2023+27C>T) c.1888+27C>T (n.1888+27C>T) n.2184+27C>T | dbSNP gnomAD v4 |
2 | g.71553216C>A | CA1260095728 | DYSF | c.1930+28C>A (n.1930+28C>A) c.1984+28C>A (n.1984+28C>A) c.1933+28C>A (n.1933+28C>A) c.1981+28C>A (n.1981+28C>A) c.2026+28C>A (n.2026+28C>A) c.1891+28C>A (n.1891+28C>A) c.2023+28C>A (n.2023+28C>A) c.1888+28C>A (n.1888+28C>A) n.2184+28C>A | dbSNP |
2 | g.71553216C= | CA1260095729 | DYSF | c.1930+28C= (n.1930+28C=) c.1984+28C= (n.1984+28C=) c.1933+28C= (n.1933+28C=) c.1981+28C= (n.1981+28C=) c.2026+28C= (n.2026+28C=) c.1891+28C= (n.1891+28C=) c.2023+28C= (n.2023+28C=) c.1888+28C= (n.1888+28C=) n.2184+28C= | |
2 | g.71553216C>G | CA533655595 | DYSF | c.1930+28C>G (n.1930+28C>G) c.1984+28C>G (n.1984+28C>G) c.1933+28C>G (n.1933+28C>G) c.1981+28C>G (n.1981+28C>G) c.2026+28C>G (n.2026+28C>G) c.1891+28C>G (n.1891+28C>G) c.2023+28C>G (n.2023+28C>G) c.1888+28C>G (n.1888+28C>G) n.2184+28C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71553216C>T | CA1706000 | DYSF | c.1930+28C>T (n.1930+28C>T) c.1984+28C>T (n.1984+28C>T) c.1933+28C>T (n.1933+28C>T) c.1981+28C>T (n.1981+28C>T) c.2026+28C>T (n.2026+28C>T) c.1891+28C>T (n.1891+28C>T) c.2023+28C>T (n.2023+28C>T) c.1888+28C>T (n.1888+28C>T) n.2184+28C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |