| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |