Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71553131G>ACA1705980DYSFc.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
2g.71553131G>CCA347218658DYSFc.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
2g.71553131G=CA1260095686DYSFc.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=
2g.71553131G>TCA253909DYSFc.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
2g.71553132A=CA1260095687DYSFc.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=
2g.71553132A>CCA1705981DYSFc.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
2g.71553132A>GCA347218659DYSFc.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
2g.71553132A>TCA347218660DYSFc.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
2g.71553133C>ACA347218661DYSFc.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
2g.71553133C=CA1260095688DYSFc.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=
2g.71553133C>GCA347218662DYSFc.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
2g.71553133C>TCA426701328DYSFc.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
2g.71553134A=CA1260095689DYSFc.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=
2g.71553134A>CCA347218664DYSFc.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
2g.71553134A>GCA1705982DYSFc.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
2g.71553134A>TCA347218663DYSFc.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
2g.71553135T>ACA347218665DYSFc.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
2g.71553135T>CCA1705983DYSFc.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
2g.71553135T>GCA347218666DYSFc.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
2g.71553135T=CA1260095690DYSFc.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=
2g.71553136G>ACA347218667DYSFc.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
2g.71553136G>CCA347218668DYSFc.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
2g.71553136G=CA1260095691DYSFc.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=
2g.71553136G>TCA347218669DYSFc.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
2g.71553137A=CA1260095692DYSFc.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=
2g.71553137A>CCA347218670DYSFc.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
2g.71553137A>GCA347218672DYSFc.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
2g.71553137A>TCA347218671DYSFc.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
2g.71553138C>ACA347218673DYSFc.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
2g.71553138C=CA1260095693DYSFc.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=
2g.71553138C>GCA347218674DYSFc.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
2g.71553138C>TCA347218675DYSFc.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
2g.71553139C>ACA426701329DYSFc.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
2g.71553139C=CA1260095694DYSFc.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=
2g.71553139C>GCA426701330DYSFc.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
2g.71553139C>TCA426701331DYSFc.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
2g.71553140T>ACA347218676DYSFc.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
2g.71553140T>CCA347218677DYSFc.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
2g.71553140T>GCA347218678DYSFc.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
2g.71553140T=CA1260095695DYSFc.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=
2g.71553141G>ACA347218679DYSFc.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
2g.71553141G>CCA347218680DYSFc.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
2g.71553141G>TCA347218681DYSFc.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
2g.71553142C>ACA347218682DYSFc.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
2g.71553142C=CA1260095696DYSFc.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=
2g.71553142C>GCA347218683DYSFc.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
2g.71553142C>TCA426701332DYSFc.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
2g.71553143C>ACA347218684DYSFc.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
2g.71553143C=CA1260095697DYSFc.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=
2g.71553143C>GCA347218685DYSFc.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
2g.71553143C>TCA1705984DYSFc.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
2g.71553144T>ACA347218686DYSFc.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
2g.71553144T>CCA347218688DYSFc.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
2g.71553144T>GCA347218687DYSFc.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
2g.71553145G>ACA426701333DYSFc.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
2g.71553145G>CCA426701334DYSFc.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
2g.71553145G>TCA426701335DYSFc.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
2g.71553146C>ACA347218689DYSFc.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
2g.71553146C=CA1260095698DYSFc.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=
2g.71553146C>GCA347218690DYSFc.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
2g.71553146C>TCA347218691DYSFc.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
2g.71553147C>ACA347218692DYSFc.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
2g.71553147C=CA1260095699DYSFc.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=
2g.71553147C>GCA347218693DYSFc.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
2g.71553147C>TCA1705985DYSFc.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
2g.71553148G>ACA147730DYSFc.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
2g.71553148G>CCA426701336DYSFc.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
2g.71553148G=CA1260095700DYSFc.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=
2g.71553148G>TCA1705986DYSFc.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
2g.71553149C>ACA347218694DYSFc.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
2g.71553149C>GCA347218695DYSFc.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
2g.71553149C>TCA426701337DYSFc.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
2g.71553150T>ACA347218696DYSFc.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
2g.71553150T>CCA347218697DYSFc.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
2g.71553150T>GCA347218698DYSFc.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
2g.71553151G>ACA426701338DYSFc.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
2g.71553151G>CCA426701339DYSFc.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
2g.71553151G>TCA426701340DYSFc.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
2g.71553152G>ACA347218701DYSFc.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
2g.71553152G>CCA347218699DYSFc.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
2g.71553152G>TCA347218700DYSFc.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
2g.71553153C>ACA347218702DYSFc.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
2g.71553153C>GCA347218703DYSFc.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
2g.71553153C>TCA347218704DYSFc.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
2g.71553154C>ACA426701341DYSFc.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
2g.71553154C>GCA426701342DYSFc.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
2g.71553154C>TCA426701343DYSFc.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
2g.71553155T>ACA347218705DYSFc.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
2g.71553155T>CCA347218706DYSFc.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
2g.71553155T>GCA347218707DYSFc.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
2g.71553156C>ACA347218708DYSFc.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
2g.71553156C>GCA347218709DYSFc.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
2g.71553156C>TCA347218710DYSFc.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
2g.71553157C>ACA426701344DYSFc.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
2g.71553157C=CA1260095701DYSFc.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=
2g.71553157C>GCA426701345DYSFc.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
2g.71553157C>TCA426701346DYSFc.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
2g.71553158A=CA1260095702DYSFc.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=
2g.71553158A>CCA347218711DYSFc.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
2g.71553158A>GCA1705987DYSFc.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
2g.71553158A>TCA347218712DYSFc.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
2g.71553159C>ACA347218713DYSFc.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
2g.71553159C>GCA347218715DYSFc.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
2g.71553159C>TCA347218714DYSFc.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
2g.71553160C>ACA426701347DYSFc.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
2g.71553160C>GCA426701348DYSFc.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
2g.71553160C>TCA426701349DYSFc.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
2g.71553161A>CCA347218716DYSFc.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
2g.71553161A>GCA347218717DYSFc.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
2g.71553161A>TCA347218718DYSFc.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
2g.71553162C>ACA347218719DYSFc.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
2g.71553162C=CA1260095703DYSFc.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=
2g.71553162C>GCA347218720DYSFc.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
2g.71553162C>TCA347218721DYSFc.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
2g.71553163T>ACA426701351DYSFc.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
2g.71553163T>CCA426701352DYSFc.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
2g.71553163T>GCA426701350DYSFc.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
2g.71553164C>ACA347218722DYSFc.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
2g.71553164C>GCA347218723DYSFc.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
2g.71553164C>TCA347218724DYSFc.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
2g.71553165A>CCA347218725DYSFc.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
2g.71553165A>GCA347218726DYSFc.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
2g.71553165A>TCA347218727DYSFc.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
2g.71553166G>ACA426701353DYSFc.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
2g.71553166G>CCA347218729DYSFc.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
2g.71553166G>TCA347218728DYSFc.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
2g.71553167T>ACA347218730DYSFc.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
2g.71553167T>CCA347218731DYSFc.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
2g.71553167T>GCA347218732DYSFc.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
2g.71553167T=CA1260095704DYSFc.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=
2g.71553168A>CCA347218733DYSFc.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
2g.71553168A>GCA347218734DYSFc.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
2g.71553168A>TCA347218735DYSFc.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
2g.71553169C>ACA347218736DYSFc.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
2g.71553169C=CA1260095705DYSFc.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=
2g.71553169C>GCA347218737DYSFc.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
2g.71553169C>TCA1705988DYSFc.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
2g.71553170A=CA1260095706DYSFc.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=
2g.71553170A>CCA1705989DYSFc.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
2g.71553170A>GCA347218738DYSFc.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
2g.71553170A>TCA347218739DYSFc.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
2g.71553171G>ACA347218741DYSFc.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
2g.71553171G>CCA347218742DYSFc.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
2g.71553171G>TCA347218740DYSFc.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
2g.71553172C>ACA347218744DYSFc.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
2g.71553172C=CA1260095707DYSFc.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=
2g.71553172C>GCA347218743DYSFc.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
2g.71553172C>TCA426701354DYSFc.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
2g.71553173C>ACA347218745DYSFc.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
2g.71553173C=CA1260095708DYSFc.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=
2g.71553173C>GCA347218746DYSFc.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
2g.71553173C>TCA1705990DYSFc.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
2g.71553174G>ACA1705991DYSFc.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
2g.71553174G>CCA1705992DYSFc.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
2g.71553174G=CA1260095709DYSFc.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=
2g.71553174G>TCA347218747DYSFc.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
2g.71553175T>ACA426701355DYSFc.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
2g.71553175T>CCA426701356DYSFc.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
2g.71553175T>GCA426701357DYSFc.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
2g.71553176G>ACA1705993DYSFc.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
2g.71553176G>CCA347218748DYSFc.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
2g.71553176G=CA1260095710DYSFc.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=
2g.71553176G>TCA347218749DYSFc.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
2g.71553177C>ACA347218750DYSFc.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
2g.71553177C>GCA347218751DYSFc.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
2g.71553177C>TCA347218752DYSFc.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
2g.71553178A=CA1260095711DYSFc.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=
2g.71553178A>CCA426701358DYSFc.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
2g.71553178A>GCA426701359DYSFc.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
2g.71553178A>TCA426701360DYSFc.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
2g.71553179G>ACA347218753DYSFc.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
2g.71553179G>CCA347218755DYSFc.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
2g.71553179G>TCA347218754DYSFc.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
2g.71553180_71553191dupCA913190078DYSFc.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
2g.71553180T>ACA347218756DYSFc.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
2g.71553180T>CCA347218757DYSFc.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
2g.71553180T>GCA347218758DYSFc.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
2g.71553181C>ACA426701361DYSFc.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
2g.71553181C>GCA426701362DYSFc.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
2g.71553181C>TCA426701363DYSFc.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
2g.71553182T>ACA347218759DYSFc.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
2g.71553182T>CCA347218760DYSFc.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
2g.71553182T>GCA347218761DYSFc.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
2g.71553183T>ACA347218762DYSFc.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
2g.71553183T>CCA347218763DYSFc.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
2g.71553183T>GCA347218764DYSFc.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
2g.71553184T>ACA347218765DYSFc.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
2g.71553184T>CCA426701364DYSFc.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
2g.71553184T>GCA347218766DYSFc.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
2g.71553185G>ACA347218768DYSFc.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
2g.71553185G>CCA347218769DYSFc.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
2g.71553185G>TCA347218767DYSFc.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
2g.71553186A>CCA347218770DYSFc.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
2g.71553186A>GCA347218771DYSFc.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
2g.71553186A>TCA347218772DYSFc.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
2g.71553187C>ACA347218773DYSFc.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
2g.71553187C=CA1260095712DYSFc.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=
2g.71553187C>GCA347218774DYSFc.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
2g.71553187C>TCA1705994DYSFc.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
2g.71553188G>ACA1705995DYSFc.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
2g.71553188G>CCA347218775DYSFc.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
2g.71553188G=CA1260095713DYSFc.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=
2g.71553188G>TCA347218776DYSFc.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
2g.71553189delCA2586969591DYSFc.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
2g.71553189G>ACA347218777DYSFc.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
2g.71553189G>CCA347218778DYSFc.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
2g.71553189G>TCA347218779DYSFc.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
2g.71553190T>ACA347218781DYSFc.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
2g.71553190T>CCA347218782DYSFc.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
2g.71553190T>GCA347218780DYSFc.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
2g.71553191G>ACA1705996DYSFc.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
2g.71553191G=CA1260095714DYSFc.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=
2g.71553191G>TCA2564317319DYSFc.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
2g.71553192_71553193delCA2659547056DYSFc.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
2g.71553194G=CA1260095715DYSFc.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=
2g.71553194G>TCA1260095716DYSFc.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
2g.71553195C>TCA645535486DYSFc.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
2g.71553196A>TCA2499216206DYSFc.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
2g.71553197G>ACA533655592DYSFc.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
2g.71553197G=CA1260095717DYSFc.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=
2g.71553199G>ACA533655593DYSFc.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
2g.71553199G=CA1260095718DYSFc.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=
2g.71553200C>ACA1705997DYSFc.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
2g.71553200C=CA1260095719DYSFc.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=
2g.71553202C=CA1260095720DYSFc.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=
2g.71553202C>TCA1705998DYSFc.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
2g.71553203C=CA1260095721DYSFc.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=
2g.71553203C>TCA533655594DYSFc.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
2g.71553204T>CCA2659547087DYSFc.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
2g.71553207C>ACA2659547095DYSFc.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
2g.71553207C=CA1260095722DYSFc.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=
2g.71553207C>TCA1705999DYSFc.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
2g.71553211G>ACA892689600DYSFc.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
2g.71553211G=CA1260095723DYSFc.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=
2g.71553212A>CCA2577000262DYSFc.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
2g.71553213C>GCA2659547106DYSFc.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
2g.71553213C>TCA2659547107DYSFc.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
2g.71553214C=CA1260095724DYSFc.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=
2g.71553214C>GCA1260095725DYSFc.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
2g.71553215C=CA1260095726DYSFc.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=
2g.71553215C>TCA1260095727DYSFc.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
2g.71553216C>ACA1260095728DYSFc.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
2g.71553216C=CA1260095729DYSFc.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=
2g.71553216C>GCA533655595DYSFc.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
2g.71553216C>TCA1706000DYSFc.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
2g.71553217G>ACA1706001DYSFc.1930+29G>A (n.1930+29G>A)
c.1984+29G>A (n.1984+29G>A)
c.1933+29G>A (n.1933+29G>A)
c.1981+29G>A (n.1981+29G>A)
c.2026+29G>A (n.2026+29G>A)
c.1891+29G>A (n.1891+29G>A)
c.2023+29G>A (n.2023+29G>A)
c.1888+29G>A (n.1888+29G>A)
n.2184+29G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71553217G>CCA2659547117DYSFc.1930+29G>C (n.1930+29G>C)
c.1984+29G>C (n.1984+29G>C)
c.1933+29G>C (n.1933+29G>C)
c.1981+29G>C (n.1981+29G>C)
c.2026+29G>C (n.2026+29G>C)
c.1891+29G>C (n.1891+29G>C)
c.2023+29G>C (n.2023+29G>C)
c.1888+29G>C (n.1888+29G>C)
n.2184+29G>C
 gnomAD v4
2g.71553217G=CA1260095730DYSFc.1930+29G= (n.1930+29G=)
c.1984+29G= (n.1984+29G=)
c.1933+29G= (n.1933+29G=)
c.1981+29G= (n.1981+29G=)
c.2026+29G= (n.2026+29G=)
c.1891+29G= (n.1891+29G=)
c.2023+29G= (n.2023+29G=)
c.1888+29G= (n.1888+29G=)
n.2184+29G=
2g.71553217G>TCA2659547118DYSFc.1930+29G>T (n.1930+29G>T)
c.1984+29G>T (n.1984+29G>T)
c.1933+29G>T (n.1933+29G>T)
c.1981+29G>T (n.1981+29G>T)
c.2026+29G>T (n.2026+29G>T)
c.1891+29G>T (n.1891+29G>T)
c.2023+29G>T (n.2023+29G>T)
c.1888+29G>T (n.1888+29G>T)
n.2184+29G>T
 gnomAD v4
2g.71553218A>GCA2577000263DYSFc.1930+30A>G (n.1930+30A>G)
c.1984+30A>G (n.1984+30A>G)
c.1933+30A>G (n.1933+30A>G)
c.1981+30A>G (n.1981+30A>G)
c.2026+30A>G (n.2026+30A>G)
c.1891+30A>G (n.1891+30A>G)
c.2023+30A>G (n.2023+30A>G)
c.1888+30A>G (n.1888+30A>G)
n.2184+30A>G
 gnomAD v4
2g.71553221A=CA1260095731DYSFc.1930+33A= (n.1930+33A=)
c.1984+33A= (n.1984+33A=)
c.1933+33A= (n.1933+33A=)
c.1981+33A= (n.1981+33A=)
c.2026+33A= (n.2026+33A=)
c.1891+33A= (n.1891+33A=)
c.2023+33A= (n.2023+33A=)
c.1888+33A= (n.1888+33A=)
n.2184+33A=
2g.71553221A>GCA533655596DYSFc.1930+33A>G (n.1930+33A>G)
c.1984+33A>G (n.1984+33A>G)
c.1933+33A>G (n.1933+33A>G)
c.1981+33A>G (n.1981+33A>G)
c.2026+33A>G (n.2026+33A>G)
c.1891+33A>G (n.1891+33A>G)
c.2023+33A>G (n.2023+33A>G)
c.1888+33A>G (n.1888+33A>G)
n.2184+33A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71553222C=CA1260095732DYSFc.1930+34C= (n.1930+34C=)
c.1984+34C= (n.1984+34C=)
c.1933+34C= (n.1933+34C=)
c.1981+34C= (n.1981+34C=)
c.2026+34C= (n.2026+34C=)
c.1891+34C= (n.1891+34C=)
c.2023+34C= (n.2023+34C=)
c.1888+34C= (n.1888+34C=)
n.2184+34C=
2g.71553222C>GCA1706002DYSFc.1930+34C>G (n.1930+34C>G)
c.1984+34C>G (n.1984+34C>G)
c.1933+34C>G (n.1933+34C>G)
c.1981+34C>G (n.1981+34C>G)
c.2026+34C>G (n.2026+34C>G)
c.1891+34C>G (n.1891+34C>G)
c.2023+34C>G (n.2023+34C>G)
c.1888+34C>G (n.1888+34C>G)
n.2184+34C>G
 dbSNP ExAC gnomAD v2
2g.71553223A=CA1260095733DYSFc.1930+35A= (n.1930+35A=)
c.1984+35A= (n.1984+35A=)
c.1933+35A= (n.1933+35A=)
c.1981+35A= (n.1981+35A=)
c.2026+35A= (n.2026+35A=)
c.1891+35A= (n.1891+35A=)
c.2023+35A= (n.2023+35A=)
c.1888+35A= (n.1888+35A=)
n.2184+35A=
2g.71553223A>CCA49795389DYSFc.1930+35A>C (n.1930+35A>C)
c.1984+35A>C (n.1984+35A>C)
c.1933+35A>C (n.1933+35A>C)
c.1981+35A>C (n.1981+35A>C)
c.2026+35A>C (n.2026+35A>C)
c.1891+35A>C (n.1891+35A>C)
c.2023+35A>C (n.2023+35A>C)
c.1888+35A>C (n.1888+35A>C)
n.2184+35A>C
 dbSNP gnomAD v4
2g.71553223_71553224delinsAGCA1260095734DYSFc.1930+35_1930+36delinsAG (n.1930+35_1930+36delinsAG)
c.1984+35_1984+36delinsAG (n.1984+35_1984+36delinsAG)
c.1933+35_1933+36delinsAG (n.1933+35_1933+36delinsAG)
c.1981+35_1981+36delinsAG (n.1981+35_1981+36delinsAG)
c.2026+35_2026+36delinsAG (n.2026+35_2026+36delinsAG)
c.1891+35_1891+36delinsAG (n.1891+35_1891+36delinsAG)
c.2023+35_2023+36delinsAG (n.2023+35_2023+36delinsAG)
c.1888+35_1888+36delinsAG (n.1888+35_1888+36delinsAG)
n.2184+35_2184+36delinsAG
2g.71553224G>ACA2750415381DYSFc.1930+36G>A (n.1930+36G>A)
c.1984+36G>A (n.1984+36G>A)
c.1933+36G>A (n.1933+36G>A)
c.1981+36G>A (n.1981+36G>A)
c.2026+36G>A (n.2026+36G>A)
c.1891+36G>A (n.1891+36G>A)
c.2023+36G>A (n.2023+36G>A)
c.1888+36G>A (n.1888+36G>A)
n.2184+36G>A
2g.71553225delCA1260095735DYSFc.1930+37del (n.1930+37del)
c.1984+37del (n.1984+37del)
c.1933+37del (n.1933+37del)
c.1981+37del (n.1981+37del)
c.2026+37del (n.2026+37del)
c.1891+37del (n.1891+37del)
c.2023+37del (n.2023+37del)
c.1888+37del (n.1888+37del)
n.2184+37del
 dbSNP gnomAD v4
2g.71553225G>ACA1260095736DYSFc.1930+37G>A (n.1930+37G>A)
c.1984+37G>A (n.1984+37G>A)
c.1933+37G>A (n.1933+37G>A)
c.1981+37G>A (n.1981+37G>A)
c.2026+37G>A (n.2026+37G>A)
c.1891+37G>A (n.1891+37G>A)
c.2023+37G>A (n.2023+37G>A)
c.1888+37G>A (n.1888+37G>A)
n.2184+37G>A
 dbSNP
2g.71553225G>CCA2659547128DYSFc.1930+37G>C (n.1930+37G>C)
c.1984+37G>C (n.1984+37G>C)
c.1933+37G>C (n.1933+37G>C)
c.1981+37G>C (n.1981+37G>C)
c.2026+37G>C (n.2026+37G>C)
c.1891+37G>C (n.1891+37G>C)
c.2023+37G>C (n.2023+37G>C)
c.1888+37G>C (n.1888+37G>C)
n.2184+37G>C
 gnomAD v4
2g.71553225G=CA1260095737DYSFc.1930+37G= (n.1930+37G=)
c.1984+37G= (n.1984+37G=)
c.1933+37G= (n.1933+37G=)
c.1981+37G= (n.1981+37G=)
c.2026+37G= (n.2026+37G=)
c.1891+37G= (n.1891+37G=)
c.2023+37G= (n.2023+37G=)
c.1888+37G= (n.1888+37G=)
n.2184+37G=
2g.71553228C=CA1260095738DYSFc.1930+40C= (n.1930+40C=)
c.1984+40C= (n.1984+40C=)
c.1933+40C= (n.1933+40C=)
c.1981+40C= (n.1981+40C=)
c.2026+40C= (n.2026+40C=)
c.1891+40C= (n.1891+40C=)
c.2023+40C= (n.2023+40C=)
c.1888+40C= (n.1888+40C=)
n.2184+40C=
2g.71553228C>GCA1260095739DYSFc.1930+40C>G (n.1930+40C>G)
c.1984+40C>G (n.1984+40C>G)
c.1933+40C>G (n.1933+40C>G)
c.1981+40C>G (n.1981+40C>G)
c.2026+40C>G (n.2026+40C>G)
c.1891+40C>G (n.1891+40C>G)
c.2023+40C>G (n.2023+40C>G)
c.1888+40C>G (n.1888+40C>G)
n.2184+40C>G
 dbSNP gnomAD v4
2g.71553228C>TCA2659547129DYSFc.1930+40C>T (n.1930+40C>T)
c.1984+40C>T (n.1984+40C>T)
c.1933+40C>T (n.1933+40C>T)
c.1981+40C>T (n.1981+40C>T)
c.2026+40C>T (n.2026+40C>T)
c.1891+40C>T (n.1891+40C>T)
c.2023+40C>T (n.2023+40C>T)
c.1888+40C>T (n.1888+40C>T)
n.2184+40C>T
 gnomAD v4
2g.71553229A=CA1260095740DYSFc.1930+41A= (n.1930+41A=)
c.1984+41A= (n.1984+41A=)
c.1933+41A= (n.1933+41A=)
c.1981+41A= (n.1981+41A=)
c.2026+41A= (n.2026+41A=)
c.1891+41A= (n.1891+41A=)
c.2023+41A= (n.2023+41A=)
c.1888+41A= (n.1888+41A=)
n.2184+41A=
2g.71553229A>GCA49795401DYSFc.1930+41A>G (n.1930+41A>G)
c.1984+41A>G (n.1984+41A>G)
c.1933+41A>G (n.1933+41A>G)
c.1981+41A>G (n.1981+41A>G)
c.2026+41A>G (n.2026+41A>G)
c.1891+41A>G (n.1891+41A>G)
c.2023+41A>G (n.2023+41A>G)
c.1888+41A>G (n.1888+41A>G)
n.2184+41A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71553229A>TCA533655597DYSFc.1930+41A>T (n.1930+41A>T)
c.1984+41A>T (n.1984+41A>T)
c.1933+41A>T (n.1933+41A>T)
c.1981+41A>T (n.1981+41A>T)
c.2026+41A>T (n.2026+41A>T)
c.1891+41A>T (n.1891+41A>T)
c.2023+41A>T (n.2023+41A>T)
c.1888+41A>T (n.1888+41A>T)
n.2184+41A>T
 dbSNP gnomAD v2 gnomAD v4
2g.71553230T>CCA646802762DYSFc.1930+42T>C (n.1930+42T>C)
c.1984+42T>C (n.1984+42T>C)
c.1933+42T>C (n.1933+42T>C)
c.1981+42T>C (n.1981+42T>C)
c.2026+42T>C (n.2026+42T>C)
c.1891+42T>C (n.1891+42T>C)
c.2023+42T>C (n.2023+42T>C)
c.1888+42T>C (n.1888+42T>C)
n.2184+42T>C
 dbSNP COSMIC
2g.71553230T=CA1260095741DYSFc.1930+42T= (n.1930+42T=)
c.1984+42T= (n.1984+42T=)
c.1933+42T= (n.1933+42T=)
c.1981+42T= (n.1981+42T=)
c.2026+42T= (n.2026+42T=)
c.1891+42T= (n.1891+42T=)
c.2023+42T= (n.2023+42T=)
c.1888+42T= (n.1888+42T=)
n.2184+42T=
2g.71553231A=CA1260095742DYSFc.1930+43A= (n.1930+43A=)
c.1984+43A= (n.1984+43A=)
c.1933+43A= (n.1933+43A=)
c.1981+43A= (n.1981+43A=)
c.2026+43A= (n.2026+43A=)
c.1891+43A= (n.1891+43A=)
c.2023+43A= (n.2023+43A=)
c.1888+43A= (n.1888+43A=)
n.2184+43A=
2g.71553231A>GCA1260095743DYSFc.1930+43A>G (n.1930+43A>G)
c.1984+43A>G (n.1984+43A>G)
c.1933+43A>G (n.1933+43A>G)
c.1981+43A>G (n.1981+43A>G)
c.2026+43A>G (n.2026+43A>G)
c.1891+43A>G (n.1891+43A>G)
c.2023+43A>G (n.2023+43A>G)
c.1888+43A>G (n.1888+43A>G)
n.2184+43A>G
 dbSNP

Number of alleles fetched