Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71553081A>CCA347218504DYSFc.1823A>C (p.Asp608Ala)
c.1877A>C (p.Asp626Ala)
c.1826A>C (p.Asp609Ala)
c.1874A>C (p.Asp625Ala)
c.1919A>C (p.Asp640Ala)
c.1784A>C (p.Asp595Ala)
c.1916A>C (p.Asp639Ala)
c.1781A>C (p.Asp594Ala)
n.2077A>C
2g.71553081A>GCA347218507DYSFc.1823A>G (p.Asp608Gly)
c.1877A>G (p.Asp626Gly)
c.1826A>G (p.Asp609Gly)
c.1874A>G (p.Asp625Gly)
c.1919A>G (p.Asp640Gly)
c.1784A>G (p.Asp595Gly)
c.1916A>G (p.Asp639Gly)
c.1781A>G (p.Asp594Gly)
n.2077A>G
2g.71553081A>TCA347218506DYSFc.1823A>T (p.Asp608Val)
c.1877A>T (p.Asp626Val)
c.1826A>T (p.Asp609Val)
c.1874A>T (p.Asp625Val)
c.1919A>T (p.Asp640Val)
c.1784A>T (p.Asp595Val)
c.1916A>T (p.Asp639Val)
c.1781A>T (p.Asp594Val)
n.2077A>T
2g.71553082T>ACA347218509DYSFc.1824T>A (p.Asp608Glu)
c.1878T>A (p.Asp626Glu)
c.1827T>A (p.Asp609Glu)
c.1875T>A (p.Asp625Glu)
c.1920T>A (p.Asp640Glu)
c.1785T>A (p.Asp595Glu)
c.1917T>A (p.Asp639Glu)
c.1782T>A (p.Asp594Glu)
n.2078T>A
2g.71553082T>CCA426701307DYSFc.1824T>C (p.Asp608=)
c.1878T>C (p.Asp626=)
c.1827T>C (p.Asp609=)
c.1875T>C (p.Asp625=)
c.1920T>C (p.Asp640=)
c.1785T>C (p.Asp595=)
c.1917T>C (p.Asp639=)
c.1782T>C (p.Asp594=)
n.2078T>C
 gnomAD v4 COSMIC COSMIC
2g.71553082T>GCA347218510DYSFc.1824T>G (p.Asp608Glu)
c.1878T>G (p.Asp626Glu)
c.1827T>G (p.Asp609Glu)
c.1875T>G (p.Asp625Glu)
c.1920T>G (p.Asp640Glu)
c.1785T>G (p.Asp595Glu)
c.1917T>G (p.Asp639Glu)
c.1782T>G (p.Asp594Glu)
n.2078T>G
2g.71553083G>ACA347218511DYSFc.1825G>A (p.Asp609Asn)
c.1879G>A (p.Asp627Asn)
c.1828G>A (p.Asp610Asn)
c.1876G>A (p.Asp626Asn)
c.1921G>A (p.Asp641Asn)
c.1786G>A (p.Asp596Asn)
c.1918G>A (p.Asp640Asn)
c.1783G>A (p.Asp595Asn)
n.2079G>A
 dbSNP gnomAD v3 gnomAD v4
2g.71553083G>CCA347218513DYSFc.1825G>C (p.Asp609His)
c.1879G>C (p.Asp627His)
c.1828G>C (p.Asp610His)
c.1876G>C (p.Asp626His)
c.1921G>C (p.Asp641His)
c.1786G>C (p.Asp596His)
c.1918G>C (p.Asp640His)
c.1783G>C (p.Asp595His)
n.2079G>C
2g.71553083G=CA1260095658DYSFc.1825G= (p.Asp609=)
c.1879G= (p.Asp627=)
c.1828G= (p.Asp610=)
c.1876G= (p.Asp626=)
c.1921G= (p.Asp641=)
c.1786G= (p.Asp596=)
c.1918G= (p.Asp640=)
c.1783G= (p.Asp595=)
n.2079G=
2g.71553083G>TCA347218514DYSFc.1825G>T (p.Asp609Tyr)
c.1879G>T (p.Asp627Tyr)
c.1828G>T (p.Asp610Tyr)
c.1876G>T (p.Asp626Tyr)
c.1921G>T (p.Asp641Tyr)
c.1786G>T (p.Asp596Tyr)
c.1918G>T (p.Asp640Tyr)
c.1783G>T (p.Asp595Tyr)
n.2079G>T
2g.71553084A>CCA347218516DYSFc.1826A>C (p.Asp609Ala)
c.1880A>C (p.Asp627Ala)
c.1829A>C (p.Asp610Ala)
c.1877A>C (p.Asp626Ala)
c.1922A>C (p.Asp641Ala)
c.1787A>C (p.Asp596Ala)
c.1919A>C (p.Asp640Ala)
c.1784A>C (p.Asp595Ala)
n.2080A>C
2g.71553084A>GCA347218518DYSFc.1826A>G (p.Asp609Gly)
c.1880A>G (p.Asp627Gly)
c.1829A>G (p.Asp610Gly)
c.1877A>G (p.Asp626Gly)
c.1922A>G (p.Asp641Gly)
c.1787A>G (p.Asp596Gly)
c.1919A>G (p.Asp640Gly)
c.1784A>G (p.Asp595Gly)
n.2080A>G
2g.71553084A>TCA347218519DYSFc.1826A>T (p.Asp609Val)
c.1880A>T (p.Asp627Val)
c.1829A>T (p.Asp610Val)
c.1877A>T (p.Asp626Val)
c.1922A>T (p.Asp641Val)
c.1787A>T (p.Asp596Val)
c.1919A>T (p.Asp640Val)
c.1784A>T (p.Asp595Val)
n.2080A>T
2g.71553085T>ACA347218520DYSFc.1827T>A (p.Asp609Glu)
c.1881T>A (p.Asp627Glu)
c.1830T>A (p.Asp610Glu)
c.1878T>A (p.Asp626Glu)
c.1923T>A (p.Asp641Glu)
c.1788T>A (p.Asp596Glu)
c.1920T>A (p.Asp640Glu)
c.1785T>A (p.Asp595Glu)
n.2081T>A
 gnomAD v4
2g.71553085T>CCA147726DYSFc.1827T>C (p.Asp609=)
c.1881T>C (p.Asp627=)
c.1830T>C (p.Asp610=)
c.1878T>C (p.Asp626=)
c.1923T>C (p.Asp641=)
c.1788T>C (p.Asp596=)
c.1920T>C (p.Asp640=)
c.1785T>C (p.Asp595=)
n.2081T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71553085T>GCA347218521DYSFc.1827T>G (p.Asp609Glu)
c.1881T>G (p.Asp627Glu)
c.1830T>G (p.Asp610Glu)
c.1878T>G (p.Asp626Glu)
c.1923T>G (p.Asp641Glu)
c.1788T>G (p.Asp596Glu)
c.1920T>G (p.Asp640Glu)
c.1785T>G (p.Asp595Glu)
n.2081T>G
 dbSNP
2g.71553085T=CA1260095659DYSFc.1827T= (p.Asp609=)
c.1881T= (p.Asp627=)
c.1830T= (p.Asp610=)
c.1878T= (p.Asp626=)
c.1923T= (p.Asp641=)
c.1788T= (p.Asp596=)
c.1920T= (p.Asp640=)
c.1785T= (p.Asp595=)
n.2081T=
2g.71553085_71553086delinsCACA916082539DYSFc.1827_1828delinsCA (p.Ala610Thr)
c.1881_1882delinsCA (p.Ala628Thr)
c.1830_1831delinsCA (p.Ala611Thr)
c.1878_1879delinsCA (p.Ala627Thr)
c.1923_1924delinsCA (p.Ala642Thr)
c.1788_1789delinsCA (p.Ala597Thr)
c.1920_1921delinsCA (p.Ala641Thr)
c.1785_1786delinsCA (p.Ala596Thr)
n.2081_2082delinsCA
 ClinVar
2g.71553086G>ACA10606141DYSFc.1828G>A (p.Ala610Thr)
c.1882G>A (p.Ala628Thr)
c.1831G>A (p.Ala611Thr)
c.1879G>A (p.Ala627Thr)
c.1924G>A (p.Ala642Thr)
c.1789G>A (p.Ala597Thr)
c.1921G>A (p.Ala641Thr)
c.1786G>A (p.Ala596Thr)
n.2082G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.71553086G>CCA347218525DYSFc.1828G>C (p.Ala610Pro)
c.1882G>C (p.Ala628Pro)
c.1831G>C (p.Ala611Pro)
c.1879G>C (p.Ala627Pro)
c.1924G>C (p.Ala642Pro)
c.1789G>C (p.Ala597Pro)
c.1921G>C (p.Ala641Pro)
c.1786G>C (p.Ala596Pro)
n.2082G>C
2g.71553086G=CA1260095660DYSFc.1828G= (p.Ala610=)
c.1882G= (p.Ala628=)
c.1831G= (p.Ala611=)
c.1879G= (p.Ala627=)
c.1924G= (p.Ala642=)
c.1789G= (p.Ala597=)
c.1921G= (p.Ala641=)
c.1786G= (p.Ala596=)
n.2082G=
2g.71553086G>TCA347218523DYSFc.1828G>T (p.Ala610Ser)
c.1882G>T (p.Ala628Ser)
c.1831G>T (p.Ala611Ser)
c.1879G>T (p.Ala627Ser)
c.1924G>T (p.Ala642Ser)
c.1789G>T (p.Ala597Ser)
c.1921G>T (p.Ala641Ser)
c.1786G>T (p.Ala596Ser)
n.2082G>T
2g.71553087C>ACA347218527DYSFc.1829C>A (p.Ala610Asp)
c.1883C>A (p.Ala628Asp)
c.1832C>A (p.Ala611Asp)
c.1880C>A (p.Ala627Asp)
c.1925C>A (p.Ala642Asp)
c.1790C>A (p.Ala597Asp)
c.1922C>A (p.Ala641Asp)
c.1787C>A (p.Ala596Asp)
n.2083C>A
2g.71553087C=CA1260095661DYSFc.1829C= (p.Ala610=)
c.1883C= (p.Ala628=)
c.1832C= (p.Ala611=)
c.1880C= (p.Ala627=)
c.1925C= (p.Ala642=)
c.1790C= (p.Ala597=)
c.1922C= (p.Ala641=)
c.1787C= (p.Ala596=)
n.2083C=
2g.71553087C>GCA1705975DYSFc.1829C>G (p.Ala610Gly)
c.1883C>G (p.Ala628Gly)
c.1832C>G (p.Ala611Gly)
c.1880C>G (p.Ala627Gly)
c.1925C>G (p.Ala642Gly)
c.1790C>G (p.Ala597Gly)
c.1922C>G (p.Ala641Gly)
c.1787C>G (p.Ala596Gly)
n.2083C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71553087C>TCA347218528DYSFc.1829C>T (p.Ala610Val)
c.1883C>T (p.Ala628Val)
c.1832C>T (p.Ala611Val)
c.1880C>T (p.Ala627Val)
c.1925C>T (p.Ala642Val)
c.1790C>T (p.Ala597Val)
c.1922C>T (p.Ala641Val)
c.1787C>T (p.Ala596Val)
n.2083C>T
 gnomAD v4
2g.71553088C>ACA426701308DYSFc.1830C>A (p.Ala610=)
c.1884C>A (p.Ala628=)
c.1833C>A (p.Ala611=)
c.1881C>A (p.Ala627=)
c.1926C>A (p.Ala642=)
c.1791C>A (p.Ala597=)
c.1923C>A (p.Ala641=)
c.1788C>A (p.Ala596=)
n.2084C>A
2g.71553088C>GCA426701310DYSFc.1830C>G (p.Ala610=)
c.1884C>G (p.Ala628=)
c.1833C>G (p.Ala611=)
c.1881C>G (p.Ala627=)
c.1926C>G (p.Ala642=)
c.1791C>G (p.Ala597=)
c.1923C>G (p.Ala641=)
c.1788C>G (p.Ala596=)
n.2084C>G
 gnomAD v4
2g.71553088C>TCA426701309DYSFc.1830C>T (p.Ala610=)
c.1884C>T (p.Ala628=)
c.1833C>T (p.Ala611=)
c.1881C>T (p.Ala627=)
c.1926C>T (p.Ala642=)
c.1791C>T (p.Ala597=)
c.1923C>T (p.Ala641=)
c.1788C>T (p.Ala596=)
n.2084C>T
2g.71553089A=CA1260095662DYSFc.1831A= (p.Ile611=)
c.1885A= (p.Ile629=)
c.1834A= (p.Ile612=)
c.1882A= (p.Ile628=)
c.1927A= (p.Ile643=)
c.1792A= (p.Ile598=)
c.1924A= (p.Ile642=)
c.1789A= (p.Ile597=)
n.2085A=
2g.71553089A>CCA347218530DYSFc.1831A>C (p.Ile611Leu)
c.1885A>C (p.Ile629Leu)
c.1834A>C (p.Ile612Leu)
c.1882A>C (p.Ile628Leu)
c.1927A>C (p.Ile643Leu)
c.1792A>C (p.Ile598Leu)
c.1924A>C (p.Ile642Leu)
c.1789A>C (p.Ile597Leu)
n.2085A>C
2g.71553089A>GCA347218532DYSFc.1831A>G (p.Ile611Val)
c.1885A>G (p.Ile629Val)
c.1834A>G (p.Ile612Val)
c.1882A>G (p.Ile628Val)
c.1927A>G (p.Ile643Val)
c.1792A>G (p.Ile598Val)
c.1924A>G (p.Ile642Val)
c.1789A>G (p.Ile597Val)
n.2085A>G
2g.71553089A>TCA1705976DYSFc.1831A>T (p.Ile611Phe)
c.1885A>T (p.Ile629Phe)
c.1834A>T (p.Ile612Phe)
c.1882A>T (p.Ile628Phe)
c.1927A>T (p.Ile643Phe)
c.1792A>T (p.Ile598Phe)
c.1924A>T (p.Ile642Phe)
c.1789A>T (p.Ile597Phe)
n.2085A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71553090T>ACA347218533DYSFc.1832T>A (p.Ile611Asn)
c.1886T>A (p.Ile629Asn)
c.1835T>A (p.Ile612Asn)
c.1883T>A (p.Ile628Asn)
c.1928T>A (p.Ile643Asn)
c.1793T>A (p.Ile598Asn)
c.1925T>A (p.Ile642Asn)
c.1790T>A (p.Ile597Asn)
n.2086T>A
2g.71553090T>CCA347218535DYSFc.1832T>C (p.Ile611Thr)
c.1886T>C (p.Ile629Thr)
c.1835T>C (p.Ile612Thr)
c.1883T>C (p.Ile628Thr)
c.1928T>C (p.Ile643Thr)
c.1793T>C (p.Ile598Thr)
c.1925T>C (p.Ile642Thr)
c.1790T>C (p.Ile597Thr)
n.2086T>C
2g.71553090T>GCA347218536DYSFc.1832T>G (p.Ile611Ser)
c.1886T>G (p.Ile629Ser)
c.1835T>G (p.Ile612Ser)
c.1883T>G (p.Ile628Ser)
c.1928T>G (p.Ile643Ser)
c.1793T>G (p.Ile598Ser)
c.1925T>G (p.Ile642Ser)
c.1790T>G (p.Ile597Ser)
n.2086T>G
 dbSNP gnomAD v3 gnomAD v4
2g.71553090T=CA1260095663DYSFc.1832T= (p.Ile611=)
c.1886T= (p.Ile629=)
c.1835T= (p.Ile612=)
c.1883T= (p.Ile628=)
c.1928T= (p.Ile643=)
c.1793T= (p.Ile598=)
c.1925T= (p.Ile642=)
c.1790T= (p.Ile597=)
n.2086T=
2g.71553091C>ACA426701311DYSFc.1833C>A (p.Ile611=)
c.1887C>A (p.Ile629=)
c.1836C>A (p.Ile612=)
c.1884C>A (p.Ile628=)
c.1929C>A (p.Ile643=)
c.1794C>A (p.Ile598=)
c.1926C>A (p.Ile642=)
c.1791C>A (p.Ile597=)
n.2087C>A
2g.71553091C>GCA347218537DYSFc.1833C>G (p.Ile611Met)
c.1887C>G (p.Ile629Met)
c.1836C>G (p.Ile612Met)
c.1884C>G (p.Ile628Met)
c.1929C>G (p.Ile643Met)
c.1794C>G (p.Ile598Met)
c.1926C>G (p.Ile642Met)
c.1791C>G (p.Ile597Met)
n.2087C>G
2g.71553091C>TCA426701312DYSFc.1833C>T (p.Ile611=)
c.1887C>T (p.Ile629=)
c.1836C>T (p.Ile612=)
c.1884C>T (p.Ile628=)
c.1929C>T (p.Ile643=)
c.1794C>T (p.Ile598=)
c.1926C>T (p.Ile642=)
c.1791C>T (p.Ile597=)
n.2087C>T
2g.71553092C>ACA347218539DYSFc.1834C>A (p.Gln612Lys)
c.1888C>A (p.Gln630Lys)
c.1837C>A (p.Gln613Lys)
c.1885C>A (p.Gln629Lys)
c.1930C>A (p.Gln644Lys)
c.1795C>A (p.Gln599Lys)
c.1927C>A (p.Gln643Lys)
c.1792C>A (p.Gln598Lys)
n.2088C>A
2g.71553092C=CA1260095664DYSFc.1834C= (p.Gln612=)
c.1888C= (p.Gln630=)
c.1837C= (p.Gln613=)
c.1885C= (p.Gln629=)
c.1930C= (p.Gln644=)
c.1795C= (p.Gln599=)
c.1927C= (p.Gln643=)
c.1792C= (p.Gln598=)
n.2088C=
2g.71553092C>GCA347218541DYSFc.1834C>G (p.Gln612Glu)
c.1888C>G (p.Gln630Glu)
c.1837C>G (p.Gln613Glu)
c.1885C>G (p.Gln629Glu)
c.1930C>G (p.Gln644Glu)
c.1795C>G (p.Gln599Glu)
c.1927C>G (p.Gln643Glu)
c.1792C>G (p.Gln598Glu)
n.2088C>G
2g.71553092C>TCA277606DYSFc.1834C>T (p.Gln612Ter)
c.1888C>T (p.Gln630Ter)
c.1837C>T (p.Gln613Ter)
c.1885C>T (p.Gln629Ter)
c.1930C>T (p.Gln644Ter)
c.1795C>T (p.Gln599Ter)
c.1927C>T (p.Gln643Ter)
c.1792C>T (p.Gln598Ter)
n.2088C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71553093A>CCA347218547DYSFc.1835A>C (p.Gln612Pro)
c.1889A>C (p.Gln630Pro)
c.1838A>C (p.Gln613Pro)
c.1886A>C (p.Gln629Pro)
c.1931A>C (p.Gln644Pro)
c.1796A>C (p.Gln599Pro)
c.1928A>C (p.Gln643Pro)
c.1793A>C (p.Gln598Pro)
n.2089A>C
2g.71553093A>GCA347218548DYSFc.1835A>G (p.Gln612Arg)
c.1889A>G (p.Gln630Arg)
c.1838A>G (p.Gln613Arg)
c.1886A>G (p.Gln629Arg)
c.1931A>G (p.Gln644Arg)
c.1796A>G (p.Gln599Arg)
c.1928A>G (p.Gln643Arg)
c.1793A>G (p.Gln598Arg)
n.2089A>G
2g.71553093A>TCA347218545DYSFc.1835A>T (p.Gln612Leu)
c.1889A>T (p.Gln630Leu)
c.1838A>T (p.Gln613Leu)
c.1886A>T (p.Gln629Leu)
c.1931A>T (p.Gln644Leu)
c.1796A>T (p.Gln599Leu)
c.1928A>T (p.Gln643Leu)
c.1793A>T (p.Gln598Leu)
n.2089A>T
2g.71553094G>ACA426701313DYSFc.1836G>A (p.Gln612=)
c.1890G>A (p.Gln630=)
c.1839G>A (p.Gln613=)
c.1887G>A (p.Gln629=)
c.1932G>A (p.Gln644=)
c.1797G>A (p.Gln599=)
c.1929G>A (p.Gln643=)
c.1794G>A (p.Gln598=)
n.2090G>A
 ClinVar dbSNP
2g.71553094G>CCA347218551DYSFc.1836G>C (p.Gln612His)
c.1890G>C (p.Gln630His)
c.1839G>C (p.Gln613His)
c.1887G>C (p.Gln629His)
c.1932G>C (p.Gln644His)
c.1797G>C (p.Gln599His)
c.1929G>C (p.Gln643His)
c.1794G>C (p.Gln598His)
n.2090G>C
 gnomAD v4
2g.71553094G>TCA347218550DYSFc.1836G>T (p.Gln612His)
c.1890G>T (p.Gln630His)
c.1839G>T (p.Gln613His)
c.1887G>T (p.Gln629His)
c.1932G>T (p.Gln644His)
c.1797G>T (p.Gln599His)
c.1929G>T (p.Gln643His)
c.1794G>T (p.Gln598His)
n.2090G>T
2g.71553095T>ACA347218553DYSFc.1837T>A (p.Phe613Ile)
c.1891T>A (p.Phe631Ile)
c.1840T>A (p.Phe614Ile)
c.1888T>A (p.Phe630Ile)
c.1933T>A (p.Phe645Ile)
c.1798T>A (p.Phe600Ile)
c.1930T>A (p.Phe644Ile)
c.1795T>A (p.Phe599Ile)
n.2091T>A
2g.71553095T>CCA347218554DYSFc.1837T>C (p.Phe613Leu)
c.1891T>C (p.Phe631Leu)
c.1840T>C (p.Phe614Leu)
c.1888T>C (p.Phe630Leu)
c.1933T>C (p.Phe645Leu)
c.1798T>C (p.Phe600Leu)
c.1930T>C (p.Phe644Leu)
c.1795T>C (p.Phe599Leu)
n.2091T>C
2g.71553095T>GCA347218556DYSFc.1837T>G (p.Phe613Val)
c.1891T>G (p.Phe631Val)
c.1840T>G (p.Phe614Val)
c.1888T>G (p.Phe630Val)
c.1933T>G (p.Phe645Val)
c.1798T>G (p.Phe600Val)
c.1930T>G (p.Phe644Val)
c.1795T>G (p.Phe599Val)
n.2091T>G
2g.71553096T>ACA347218557DYSFc.1838T>A (p.Phe613Tyr)
c.1892T>A (p.Phe631Tyr)
c.1841T>A (p.Phe614Tyr)
c.1889T>A (p.Phe630Tyr)
c.1934T>A (p.Phe645Tyr)
c.1799T>A (p.Phe600Tyr)
c.1931T>A (p.Phe644Tyr)
c.1796T>A (p.Phe599Tyr)
n.2092T>A
2g.71553096T>CCA347218558DYSFc.1838T>C (p.Phe613Ser)
c.1892T>C (p.Phe631Ser)
c.1841T>C (p.Phe614Ser)
c.1889T>C (p.Phe630Ser)
c.1934T>C (p.Phe645Ser)
c.1799T>C (p.Phe600Ser)
c.1931T>C (p.Phe644Ser)
c.1796T>C (p.Phe599Ser)
n.2092T>C
 gnomAD v4
2g.71553096T>GCA347218560DYSFc.1838T>G (p.Phe613Cys)
c.1892T>G (p.Phe631Cys)
c.1841T>G (p.Phe614Cys)
c.1889T>G (p.Phe630Cys)
c.1934T>G (p.Phe645Cys)
c.1799T>G (p.Phe600Cys)
c.1931T>G (p.Phe644Cys)
c.1796T>G (p.Phe599Cys)
n.2092T>G
2g.71553097T>ACA347218561DYSFc.1839T>A (p.Phe613Leu)
c.1893T>A (p.Phe631Leu)
c.1842T>A (p.Phe614Leu)
c.1890T>A (p.Phe630Leu)
c.1935T>A (p.Phe645Leu)
c.1800T>A (p.Phe600Leu)
c.1932T>A (p.Phe644Leu)
c.1797T>A (p.Phe599Leu)
n.2093T>A
2g.71553097T>CCA426701314DYSFc.1839T>C (p.Phe613=)
c.1893T>C (p.Phe631=)
c.1842T>C (p.Phe614=)
c.1890T>C (p.Phe630=)
c.1935T>C (p.Phe645=)
c.1800T>C (p.Phe600=)
c.1932T>C (p.Phe644=)
c.1797T>C (p.Phe599=)
n.2093T>C
2g.71553097T>GCA49795200DYSFc.1839T>G (p.Phe613Leu)
c.1893T>G (p.Phe631Leu)
c.1842T>G (p.Phe614Leu)
c.1890T>G (p.Phe630Leu)
c.1935T>G (p.Phe645Leu)
c.1800T>G (p.Phe600Leu)
c.1932T>G (p.Phe644Leu)
c.1797T>G (p.Phe599Leu)
n.2093T>G
 dbSNP
2g.71553097T=CA1260095665DYSFc.1839T= (p.Phe613=)
c.1893T= (p.Phe631=)
c.1842T= (p.Phe614=)
c.1890T= (p.Phe630=)
c.1935T= (p.Phe645=)
c.1800T= (p.Phe600=)
c.1932T= (p.Phe644=)
c.1797T= (p.Phe599=)
n.2093T=
2g.71553098G>ACA347218563DYSFc.1840G>A (p.Glu614Lys)
c.1894G>A (p.Glu632Lys)
c.1843G>A (p.Glu615Lys)
c.1891G>A (p.Glu631Lys)
c.1936G>A (p.Glu646Lys)
c.1801G>A (p.Glu601Lys)
c.1933G>A (p.Glu645Lys)
c.1798G>A (p.Glu600Lys)
n.2094G>A
2g.71553098G>CCA347218565DYSFc.1840G>C (p.Glu614Gln)
c.1894G>C (p.Glu632Gln)
c.1843G>C (p.Glu615Gln)
c.1891G>C (p.Glu631Gln)
c.1936G>C (p.Glu646Gln)
c.1801G>C (p.Glu601Gln)
c.1933G>C (p.Glu645Gln)
c.1798G>C (p.Glu600Gln)
n.2094G>C
 dbSNP gnomAD v2 gnomAD v4
2g.71553098G=CA1260095666DYSFc.1840G= (p.Glu614=)
c.1894G= (p.Glu632=)
c.1843G= (p.Glu615=)
c.1891G= (p.Glu631=)
c.1936G= (p.Glu646=)
c.1801G= (p.Glu601=)
c.1933G= (p.Glu645=)
c.1798G= (p.Glu600=)
n.2094G=
2g.71553098G>TCA347218566DYSFc.1840G>T (p.Glu614Ter)
c.1894G>T (p.Glu632Ter)
c.1843G>T (p.Glu615Ter)
c.1891G>T (p.Glu631Ter)
c.1936G>T (p.Glu646Ter)
c.1801G>T (p.Glu601Ter)
c.1933G>T (p.Glu645Ter)
c.1798G>T (p.Glu600Ter)
n.2094G>T
2g.71553099A>CCA347218568DYSFc.1841A>C (p.Glu614Ala)
c.1895A>C (p.Glu632Ala)
c.1844A>C (p.Glu615Ala)
c.1892A>C (p.Glu631Ala)
c.1937A>C (p.Glu646Ala)
c.1802A>C (p.Glu601Ala)
c.1934A>C (p.Glu645Ala)
c.1799A>C (p.Glu600Ala)
n.2095A>C
2g.71553099A>GCA347218570DYSFc.1841A>G (p.Glu614Gly)
c.1895A>G (p.Glu632Gly)
c.1844A>G (p.Glu615Gly)
c.1892A>G (p.Glu631Gly)
c.1937A>G (p.Glu646Gly)
c.1802A>G (p.Glu601Gly)
c.1934A>G (p.Glu645Gly)
c.1799A>G (p.Glu600Gly)
n.2095A>G
 gnomAD v4
2g.71553099A>TCA347218571DYSFc.1841A>T (p.Glu614Val)
c.1895A>T (p.Glu632Val)
c.1844A>T (p.Glu615Val)
c.1892A>T (p.Glu631Val)
c.1937A>T (p.Glu646Val)
c.1802A>T (p.Glu601Val)
c.1934A>T (p.Glu645Val)
c.1799A>T (p.Glu600Val)
n.2095A>T
2g.71553100G>ACA426701315DYSFc.1842G>A (p.Glu614=)
c.1896G>A (p.Glu632=)
c.1845G>A (p.Glu615=)
c.1893G>A (p.Glu631=)
c.1938G>A (p.Glu646=)
c.1803G>A (p.Glu601=)
c.1935G>A (p.Glu645=)
c.1800G>A (p.Glu600=)
n.2096G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71553100G>CCA347218574DYSFc.1842G>C (p.Glu614Asp)
c.1896G>C (p.Glu632Asp)
c.1845G>C (p.Glu615Asp)
c.1893G>C (p.Glu631Asp)
c.1938G>C (p.Glu646Asp)
c.1803G>C (p.Glu601Asp)
c.1935G>C (p.Glu645Asp)
c.1800G>C (p.Glu600Asp)
n.2096G>C
2g.71553100G=CA1260095667DYSFc.1842G= (p.Glu614=)
c.1896G= (p.Glu632=)
c.1845G= (p.Glu615=)
c.1893G= (p.Glu631=)
c.1938G= (p.Glu646=)
c.1803G= (p.Glu601=)
c.1935G= (p.Glu645=)
c.1800G= (p.Glu600=)
n.2096G=
2g.71553100G>TCA347218572DYSFc.1842G>T (p.Glu614Asp)
c.1896G>T (p.Glu632Asp)
c.1845G>T (p.Glu615Asp)
c.1893G>T (p.Glu631Asp)
c.1938G>T (p.Glu646Asp)
c.1803G>T (p.Glu601Asp)
c.1935G>T (p.Glu645Asp)
c.1800G>T (p.Glu600Asp)
n.2096G>T
2g.71553101G>ACA347218575DYSFc.1843G>A (p.Val615Ile)
c.1897G>A (p.Val633Ile)
c.1846G>A (p.Val616Ile)
c.1894G>A (p.Val632Ile)
c.1939G>A (p.Val647Ile)
c.1804G>A (p.Val602Ile)
c.1936G>A (p.Val646Ile)
c.1801G>A (p.Val601Ile)
n.2097G>A
 gnomAD v4
2g.71553101G>CCA347218576DYSFc.1843G>C (p.Val615Leu)
c.1897G>C (p.Val633Leu)
c.1846G>C (p.Val616Leu)
c.1894G>C (p.Val632Leu)
c.1939G>C (p.Val647Leu)
c.1804G>C (p.Val602Leu)
c.1936G>C (p.Val646Leu)
c.1801G>C (p.Val601Leu)
n.2097G>C
2g.71553101G>TCA347218578DYSFc.1843G>T (p.Val615Phe)
c.1897G>T (p.Val633Phe)
c.1846G>T (p.Val616Phe)
c.1894G>T (p.Val632Phe)
c.1939G>T (p.Val647Phe)
c.1804G>T (p.Val602Phe)
c.1936G>T (p.Val646Phe)
c.1801G>T (p.Val601Phe)
n.2097G>T
2g.71553102T>ACA347218579DYSFc.1844T>A (p.Val615Asp)
c.1898T>A (p.Val633Asp)
c.1847T>A (p.Val616Asp)
c.1895T>A (p.Val632Asp)
c.1940T>A (p.Val647Asp)
c.1805T>A (p.Val602Asp)
c.1937T>A (p.Val646Asp)
c.1802T>A (p.Val601Asp)
n.2098T>A
2g.71553102T>CCA347218580DYSFc.1844T>C (p.Val615Ala)
c.1898T>C (p.Val633Ala)
c.1847T>C (p.Val616Ala)
c.1895T>C (p.Val632Ala)
c.1940T>C (p.Val647Ala)
c.1805T>C (p.Val602Ala)
c.1937T>C (p.Val646Ala)
c.1802T>C (p.Val601Ala)
n.2098T>C
2g.71553102T>GCA347218581DYSFc.1844T>G (p.Val615Gly)
c.1898T>G (p.Val633Gly)
c.1847T>G (p.Val616Gly)
c.1895T>G (p.Val632Gly)
c.1940T>G (p.Val647Gly)
c.1805T>G (p.Val602Gly)
c.1937T>G (p.Val646Gly)
c.1802T>G (p.Val601Gly)
n.2098T>G
2g.71553103C>ACA426701316DYSFc.1845C>A (p.Val615=)
c.1899C>A (p.Val633=)
c.1848C>A (p.Val616=)
c.1896C>A (p.Val632=)
c.1941C>A (p.Val647=)
c.1806C>A (p.Val602=)
c.1938C>A (p.Val646=)
c.1803C>A (p.Val601=)
n.2099C>A
2g.71553103C=CA1260095668DYSFc.1845C= (p.Val615=)
c.1899C= (p.Val633=)
c.1848C= (p.Val616=)
c.1896C= (p.Val632=)
c.1941C= (p.Val647=)
c.1806C= (p.Val602=)
c.1938C= (p.Val646=)
c.1803C= (p.Val601=)
n.2099C=
2g.71553103C>GCA426701317DYSFc.1845C>G (p.Val615=)
c.1899C>G (p.Val633=)
c.1848C>G (p.Val616=)
c.1896C>G (p.Val632=)
c.1941C>G (p.Val647=)
c.1806C>G (p.Val602=)
c.1938C>G (p.Val646=)
c.1803C>G (p.Val601=)
n.2099C>G
2g.71553103C>TCA426701318DYSFc.1845C>T (p.Val615=)
c.1899C>T (p.Val633=)
c.1848C>T (p.Val616=)
c.1896C>T (p.Val632=)
c.1941C>T (p.Val647=)
c.1806C>T (p.Val602=)
c.1938C>T (p.Val646=)
c.1803C>T (p.Val601=)
n.2099C>T
 dbSNP
2g.71553104A=CA1260095669DYSFc.1846A= (p.Ser616=)
c.1900A= (p.Ser634=)
c.1849A= (p.Ser617=)
c.1897A= (p.Ser633=)
c.1942A= (p.Ser648=)
c.1807A= (p.Ser603=)
c.1939A= (p.Ser647=)
c.1804A= (p.Ser602=)
n.2100A=
2g.71553104A>CCA347218586DYSFc.1846A>C (p.Ser616Arg)
c.1900A>C (p.Ser634Arg)
c.1849A>C (p.Ser617Arg)
c.1897A>C (p.Ser633Arg)
c.1942A>C (p.Ser648Arg)
c.1807A>C (p.Ser603Arg)
c.1939A>C (p.Ser647Arg)
c.1804A>C (p.Ser602Arg)
n.2100A>C
2g.71553104A>GCA347218583DYSFc.1846A>G (p.Ser616Gly)
c.1900A>G (p.Ser634Gly)
c.1849A>G (p.Ser617Gly)
c.1897A>G (p.Ser633Gly)
c.1942A>G (p.Ser648Gly)
c.1807A>G (p.Ser603Gly)
c.1939A>G (p.Ser647Gly)
c.1804A>G (p.Ser602Gly)
n.2100A>G
 dbSNP gnomAD v2 gnomAD v4
2g.71553104A>TCA347218585DYSFc.1846A>T (p.Ser616Cys)
c.1900A>T (p.Ser634Cys)
c.1849A>T (p.Ser617Cys)
c.1897A>T (p.Ser633Cys)
c.1942A>T (p.Ser648Cys)
c.1807A>T (p.Ser603Cys)
c.1939A>T (p.Ser647Cys)
c.1804A>T (p.Ser602Cys)
n.2100A>T
2g.71553105G>ACA347218588DYSFc.1847G>A (p.Ser616Asn)
c.1901G>A (p.Ser634Asn)
c.1850G>A (p.Ser617Asn)
c.1898G>A (p.Ser633Asn)
c.1943G>A (p.Ser648Asn)
c.1808G>A (p.Ser603Asn)
c.1940G>A (p.Ser647Asn)
c.1805G>A (p.Ser602Asn)
n.2101G>A
2g.71553105G>CCA347218589DYSFc.1847G>C (p.Ser616Thr)
c.1901G>C (p.Ser634Thr)
c.1850G>C (p.Ser617Thr)
c.1898G>C (p.Ser633Thr)
c.1943G>C (p.Ser648Thr)
c.1808G>C (p.Ser603Thr)
c.1940G>C (p.Ser647Thr)
c.1805G>C (p.Ser602Thr)
n.2101G>C
2g.71553105G>TCA347218591DYSFc.1847G>T (p.Ser616Ile)
c.1901G>T (p.Ser634Ile)
c.1850G>T (p.Ser617Ile)
c.1898G>T (p.Ser633Ile)
c.1943G>T (p.Ser648Ile)
c.1808G>T (p.Ser603Ile)
c.1940G>T (p.Ser647Ile)
c.1805G>T (p.Ser602Ile)
n.2101G>T
 gnomAD v4
2g.71553106C>ACA347218592DYSFc.1848C>A (p.Ser616Arg)
c.1902C>A (p.Ser634Arg)
c.1851C>A (p.Ser617Arg)
c.1899C>A (p.Ser633Arg)
c.1944C>A (p.Ser648Arg)
c.1809C>A (p.Ser603Arg)
c.1941C>A (p.Ser647Arg)
c.1806C>A (p.Ser602Arg)
n.2102C>A
2g.71553106C=CA1260095670DYSFc.1848C= (p.Ser616=)
c.1902C= (p.Ser634=)
c.1851C= (p.Ser617=)
c.1899C= (p.Ser633=)
c.1944C= (p.Ser648=)
c.1809C= (p.Ser603=)
c.1941C= (p.Ser647=)
c.1806C= (p.Ser602=)
n.2102C=
2g.71553106C>GCA347218593DYSFc.1848C>G (p.Ser616Arg)
c.1902C>G (p.Ser634Arg)
c.1851C>G (p.Ser617Arg)
c.1899C>G (p.Ser633Arg)
c.1944C>G (p.Ser648Arg)
c.1809C>G (p.Ser603Arg)
c.1941C>G (p.Ser647Arg)
c.1806C>G (p.Ser602Arg)
n.2102C>G
2g.71553106C>TCA426701319DYSFc.1848C>T (p.Ser616=)
c.1902C>T (p.Ser634=)
c.1851C>T (p.Ser617=)
c.1899C>T (p.Ser633=)
c.1944C>T (p.Ser648=)
c.1809C>T (p.Ser603=)
c.1941C>T (p.Ser647=)
c.1806C>T (p.Ser602=)
n.2102C>T
 dbSNP gnomAD v3 gnomAD v4
2g.71553107A=CA1260095671DYSFc.1849A= (p.Ile617=)
c.1903A= (p.Ile635=)
c.1852A= (p.Ile618=)
c.1900A= (p.Ile634=)
c.1945A= (p.Ile649=)
c.1810A= (p.Ile604=)
c.1942A= (p.Ile648=)
c.1807A= (p.Ile603=)
n.2103A=
2g.71553107A>CCA347218595DYSFc.1849A>C (p.Ile617Leu)
c.1903A>C (p.Ile635Leu)
c.1852A>C (p.Ile618Leu)
c.1900A>C (p.Ile634Leu)
c.1945A>C (p.Ile649Leu)
c.1810A>C (p.Ile604Leu)
c.1942A>C (p.Ile648Leu)
c.1807A>C (p.Ile603Leu)
n.2103A>C
2g.71553107A>GCA347218598DYSFc.1849A>G (p.Ile617Val)
c.1903A>G (p.Ile635Val)
c.1852A>G (p.Ile618Val)
c.1900A>G (p.Ile634Val)
c.1945A>G (p.Ile649Val)
c.1810A>G (p.Ile604Val)
c.1942A>G (p.Ile648Val)
c.1807A>G (p.Ile603Val)
n.2103A>G
 dbSNP gnomAD v2
2g.71553107A>TCA347218596DYSFc.1849A>T (p.Ile617Phe)
c.1903A>T (p.Ile635Phe)
c.1852A>T (p.Ile618Phe)
c.1900A>T (p.Ile634Phe)
c.1945A>T (p.Ile649Phe)
c.1810A>T (p.Ile604Phe)
c.1942A>T (p.Ile648Phe)
c.1807A>T (p.Ile603Phe)
n.2103A>T
2g.71553108T>ACA347218600DYSFc.1850T>A (p.Ile617Asn)
c.1904T>A (p.Ile635Asn)
c.1853T>A (p.Ile618Asn)
c.1901T>A (p.Ile634Asn)
c.1946T>A (p.Ile649Asn)
c.1811T>A (p.Ile604Asn)
c.1943T>A (p.Ile648Asn)
c.1808T>A (p.Ile603Asn)
n.2104T>A
2g.71553108T>CCA347218602DYSFc.1850T>C (p.Ile617Thr)
c.1904T>C (p.Ile635Thr)
c.1853T>C (p.Ile618Thr)
c.1901T>C (p.Ile634Thr)
c.1946T>C (p.Ile649Thr)
c.1811T>C (p.Ile604Thr)
c.1943T>C (p.Ile648Thr)
c.1808T>C (p.Ile603Thr)
n.2104T>C
2g.71553108T>GCA347218603DYSFc.1850T>G (p.Ile617Ser)
c.1904T>G (p.Ile635Ser)
c.1853T>G (p.Ile618Ser)
c.1901T>G (p.Ile634Ser)
c.1946T>G (p.Ile649Ser)
c.1811T>G (p.Ile604Ser)
c.1943T>G (p.Ile648Ser)
c.1808T>G (p.Ile603Ser)
n.2104T>G
2g.71553109C>ACA426701320DYSFc.1851C>A (p.Ile617=)
c.1905C>A (p.Ile635=)
c.1854C>A (p.Ile618=)
c.1902C>A (p.Ile634=)
c.1947C>A (p.Ile649=)
c.1812C>A (p.Ile604=)
c.1944C>A (p.Ile648=)
c.1809C>A (p.Ile603=)
n.2105C>A
 gnomAD v4 COSMIC COSMIC
2g.71553109C=CA1260095672DYSFc.1851C= (p.Ile617=)
c.1905C= (p.Ile635=)
c.1854C= (p.Ile618=)
c.1902C= (p.Ile634=)
c.1947C= (p.Ile649=)
c.1812C= (p.Ile604=)
c.1944C= (p.Ile648=)
c.1809C= (p.Ile603=)
n.2105C=
2g.71553109C>GCA347218604DYSFc.1851C>G (p.Ile617Met)
c.1905C>G (p.Ile635Met)
c.1854C>G (p.Ile618Met)
c.1902C>G (p.Ile634Met)
c.1947C>G (p.Ile649Met)
c.1812C>G (p.Ile604Met)
c.1944C>G (p.Ile648Met)
c.1809C>G (p.Ile603Met)
n.2105C>G
2g.71553109C>TCA1705977DYSFc.1851C>T (p.Ile617=)
c.1905C>T (p.Ile635=)
c.1854C>T (p.Ile618=)
c.1902C>T (p.Ile634=)
c.1947C>T (p.Ile649=)
c.1812C>T (p.Ile604=)
c.1944C>T (p.Ile648=)
c.1809C>T (p.Ile603=)
n.2105C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71553110G>ACA241938DYSFc.1852G>A (p.Gly618Arg)
c.1906G>A (p.Gly636Arg)
c.1855G>A (p.Gly619Arg)
c.1903G>A (p.Gly635Arg)
c.1948G>A (p.Gly650Arg)
c.1813G>A (p.Gly605Arg)
c.1945G>A (p.Gly649Arg)
c.1810G>A (p.Gly604Arg)
n.2106G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.71553110G>CCA277611DYSFc.1852G>C (p.Gly618Arg)
c.1906G>C (p.Gly636Arg)
c.1855G>C (p.Gly619Arg)
c.1903G>C (p.Gly635Arg)
c.1948G>C (p.Gly650Arg)
c.1813G>C (p.Gly605Arg)
c.1945G>C (p.Gly649Arg)
c.1810G>C (p.Gly604Arg)
n.2106G>C
 ClinVar dbSNP
2g.71553110G=CA1260095673DYSFc.1852G= (p.Gly618=)
c.1906G= (p.Gly636=)
c.1855G= (p.Gly619=)
c.1903G= (p.Gly635=)
c.1948G= (p.Gly650=)
c.1813G= (p.Gly605=)
c.1945G= (p.Gly649=)
c.1810G= (p.Gly604=)
n.2106G=
2g.71553110G>TCA347218606DYSFc.1852G>T (p.Gly618Trp)
c.1906G>T (p.Gly636Trp)
c.1855G>T (p.Gly619Trp)
c.1903G>T (p.Gly635Trp)
c.1948G>T (p.Gly650Trp)
c.1813G>T (p.Gly605Trp)
c.1945G>T (p.Gly649Trp)
c.1810G>T (p.Gly604Trp)
n.2106G>T
2g.71553111G>ACA347218609DYSFc.1853G>A (p.Gly618Glu)
c.1907G>A (p.Gly636Glu)
c.1856G>A (p.Gly619Glu)
c.1904G>A (p.Gly635Glu)
c.1949G>A (p.Gly650Glu)
c.1814G>A (p.Gly605Glu)
c.1946G>A (p.Gly649Glu)
c.1811G>A (p.Gly604Glu)
n.2107G>A
 dbSNP
2g.71553111G>CCA347218611DYSFc.1853G>C (p.Gly618Ala)
c.1907G>C (p.Gly636Ala)
c.1856G>C (p.Gly619Ala)
c.1904G>C (p.Gly635Ala)
c.1949G>C (p.Gly650Ala)
c.1814G>C (p.Gly605Ala)
c.1946G>C (p.Gly649Ala)
c.1811G>C (p.Gly604Ala)
n.2107G>C
2g.71553111G=CA1260095674DYSFc.1853G= (p.Gly618=)
c.1907G= (p.Gly636=)
c.1856G= (p.Gly619=)
c.1904G= (p.Gly635=)
c.1949G= (p.Gly650=)
c.1814G= (p.Gly605=)
c.1946G= (p.Gly649=)
c.1811G= (p.Gly604=)
n.2107G=
2g.71553111G>TCA347218613DYSFc.1853G>T (p.Gly618Val)
c.1907G>T (p.Gly636Val)
c.1856G>T (p.Gly619Val)
c.1904G>T (p.Gly635Val)
c.1949G>T (p.Gly650Val)
c.1814G>T (p.Gly605Val)
c.1946G>T (p.Gly649Val)
c.1811G>T (p.Gly604Val)
n.2107G>T
2g.71553112G>ACA426701323DYSFc.1854G>A (p.Gly618=)
c.1908G>A (p.Gly636=)
c.1857G>A (p.Gly619=)
c.1905G>A (p.Gly635=)
c.1950G>A (p.Gly650=)
c.1815G>A (p.Gly605=)
c.1947G>A (p.Gly649=)
c.1812G>A (p.Gly604=)
n.2108G>A
 ClinVar gnomAD v4
2g.71553112G>CCA426701322DYSFc.1854G>C (p.Gly618=)
c.1908G>C (p.Gly636=)
c.1857G>C (p.Gly619=)
c.1905G>C (p.Gly635=)
c.1950G>C (p.Gly650=)
c.1815G>C (p.Gly605=)
c.1947G>C (p.Gly649=)
c.1812G>C (p.Gly604=)
n.2108G>C
 dbSNP gnomAD v3 gnomAD v4
2g.71553112G=CA1260095675DYSFc.1854G= (p.Gly618=)
c.1908G= (p.Gly636=)
c.1857G= (p.Gly619=)
c.1905G= (p.Gly635=)
c.1950G= (p.Gly650=)
c.1815G= (p.Gly605=)
c.1947G= (p.Gly649=)
c.1812G= (p.Gly604=)
n.2108G=
2g.71553112G>TCA426701321DYSFc.1854G>T (p.Gly618=)
c.1908G>T (p.Gly636=)
c.1857G>T (p.Gly619=)
c.1905G>T (p.Gly635=)
c.1950G>T (p.Gly650=)
c.1815G>T (p.Gly605=)
c.1947G>T (p.Gly649=)
c.1812G>T (p.Gly604=)
n.2108G>T
 COSMIC
2g.71553113A>CCA347218615DYSFc.1855A>C (p.Asn619His)
c.1909A>C (p.Asn637His)
c.1858A>C (p.Asn620His)
c.1906A>C (p.Asn636His)
c.1951A>C (p.Asn651His)
c.1816A>C (p.Asn606His)
c.1948A>C (p.Asn650His)
c.1813A>C (p.Asn605His)
n.2109A>C
2g.71553113A>GCA347218616DYSFc.1855A>G (p.Asn619Asp)
c.1909A>G (p.Asn637Asp)
c.1858A>G (p.Asn620Asp)
c.1906A>G (p.Asn636Asp)
c.1951A>G (p.Asn651Asp)
c.1816A>G (p.Asn606Asp)
c.1948A>G (p.Asn650Asp)
c.1813A>G (p.Asn605Asp)
n.2109A>G
2g.71553113A>TCA347218617DYSFc.1855A>T (p.Asn619Tyr)
c.1909A>T (p.Asn637Tyr)
c.1858A>T (p.Asn620Tyr)
c.1906A>T (p.Asn636Tyr)
c.1951A>T (p.Asn651Tyr)
c.1816A>T (p.Asn606Tyr)
c.1948A>T (p.Asn650Tyr)
c.1813A>T (p.Asn605Tyr)
n.2109A>T
2g.71553114A>CCA347218618DYSFc.1856A>C (p.Asn619Thr)
c.1910A>C (p.Asn637Thr)
c.1859A>C (p.Asn620Thr)
c.1907A>C (p.Asn636Thr)
c.1952A>C (p.Asn651Thr)
c.1817A>C (p.Asn606Thr)
c.1949A>C (p.Asn650Thr)
c.1814A>C (p.Asn605Thr)
n.2110A>C
2g.71553114A>GCA347218620DYSFc.1856A>G (p.Asn619Ser)
c.1910A>G (p.Asn637Ser)
c.1859A>G (p.Asn620Ser)
c.1907A>G (p.Asn636Ser)
c.1952A>G (p.Asn651Ser)
c.1817A>G (p.Asn606Ser)
c.1949A>G (p.Asn650Ser)
c.1814A>G (p.Asn605Ser)
n.2110A>G
2g.71553114A>TCA347218619DYSFc.1856A>T (p.Asn619Ile)
c.1910A>T (p.Asn637Ile)
c.1859A>T (p.Asn620Ile)
c.1907A>T (p.Asn636Ile)
c.1952A>T (p.Asn651Ile)
c.1817A>T (p.Asn606Ile)
c.1949A>T (p.Asn650Ile)
c.1814A>T (p.Asn605Ile)
n.2110A>T
2g.71553115C>ACA347218621DYSFc.1857C>A (p.Asn619Lys)
c.1911C>A (p.Asn637Lys)
c.1860C>A (p.Asn620Lys)
c.1908C>A (p.Asn636Lys)
c.1953C>A (p.Asn651Lys)
c.1818C>A (p.Asn606Lys)
c.1950C>A (p.Asn650Lys)
c.1815C>A (p.Asn605Lys)
n.2111C>A
 gnomAD v4
2g.71553115C=CA1260095676DYSFc.1857C= (p.Asn619=)
c.1911C= (p.Asn637=)
c.1860C= (p.Asn620=)
c.1908C= (p.Asn636=)
c.1953C= (p.Asn651=)
c.1818C= (p.Asn606=)
c.1950C= (p.Asn650=)
c.1815C= (p.Asn605=)
n.2111C=
2g.71553115C>GCA347218622DYSFc.1857C>G (p.Asn619Lys)
c.1911C>G (p.Asn637Lys)
c.1860C>G (p.Asn620Lys)
c.1908C>G (p.Asn636Lys)
c.1953C>G (p.Asn651Lys)
c.1818C>G (p.Asn606Lys)
c.1950C>G (p.Asn650Lys)
c.1815C>G (p.Asn605Lys)
n.2111C>G
2g.71553115C>TCA426701324DYSFc.1857C>T (p.Asn619=)
c.1911C>T (p.Asn637=)
c.1860C>T (p.Asn620=)
c.1908C>T (p.Asn636=)
c.1953C>T (p.Asn651=)
c.1818C>T (p.Asn606=)
c.1950C>T (p.Asn650=)
c.1815C>T (p.Asn605=)
n.2111C>T
 ClinVar dbSNP gnomAD v4
2g.71553116T>ACA347218623DYSFc.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
2g.71553116T>CCA347218624DYSFc.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
2g.71553116T>GCA347218625DYSFc.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
2g.71553117A>CCA347218626DYSFc.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
2g.71553117A>GCA347218627DYSFc.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
2g.71553117A>TCA347218628DYSFc.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
2g.71553118C>ACA347218629DYSFc.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
2g.71553118C=CA1260095677DYSFc.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=
2g.71553118C>GCA347218630DYSFc.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
2g.71553118C>TCA147728DYSFc.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
2g.71553119G>ACA10606091DYSFc.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
2g.71553119G>CCA347218631DYSFc.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
2g.71553119G=CA1260095678DYSFc.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=
2g.71553119G>TCA347218632DYSFc.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
2g.71553120G>ACA347218633DYSFc.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
2g.71553120G>CCA347218634DYSFc.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
2g.71553120G>TCA347218635DYSFc.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
2g.71553121G>ACA1705978DYSFc.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
2g.71553121G>CCA426701325DYSFc.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
2g.71553121G=CA1260095679DYSFc.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=
2g.71553121G>TCA426701326DYSFc.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
2g.71553122A>CCA347218636DYSFc.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
2g.71553122A>GCA347218637DYSFc.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
2g.71553122A>TCA347218638DYSFc.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
2g.71553123A=CA1260095680DYSFc.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=
2g.71553123A>CCA10605228DYSFc.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
2g.71553123A>GCA347218639DYSFc.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
2g.71553123A>TCA347218640DYSFc.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
2g.71553124C>ACA347218641DYSFc.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
2g.71553124C=CA1260095682DYSFc.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=
2g.71553124C>GCA49795239DYSFc.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
2g.71553124C>TCA426701327DYSFc.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
2g.71553124_71553125delinsCACA1260095681DYSFc.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
2g.71553125A>CCA347218642DYSFc.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
2g.71553125A>GCA347218643DYSFc.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
2g.71553125A>TCA347218644DYSFc.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
2g.71553126delCA915942532DYSFc.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
2g.71553126A>CCA347218645DYSFc.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
2g.71553126A>GCA347218647DYSFc.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
2g.71553126A>TCA347218646DYSFc.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
2g.71553127G>ACA49795242DYSFc.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
2g.71553127G>CCA347218648DYSFc.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
2g.71553127G=CA1260095683DYSFc.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=
2g.71553127G>TCA347218649DYSFc.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
2g.71553128T>ACA347218650DYSFc.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
2g.71553128T>CCA347218651DYSFc.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
2g.71553128T>GCA347218652DYSFc.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
2g.71553128T=CA1260095684DYSFc.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=
2g.71553129T>ACA347218653DYSFc.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
2g.71553129T>CCA347218654DYSFc.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
2g.71553129T>GCA347218655DYSFc.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
2g.71553130C>ACA347218656DYSFc.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
2g.71553130C=CA1260095685DYSFc.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=
2g.71553130C>GCA347218657DYSFc.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
2g.71553130C>TCA1705979DYSFc.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
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

Number of alleles fetched