| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71553071C>A | CA347218468 | DYSF | c.1813C>A (p.Gln605Lys) c.1867C>A (p.Gln623Lys) c.1816C>A (p.Gln606Lys) c.1864C>A (p.Gln622Lys) c.1909C>A (p.Gln637Lys) c.1774C>A (p.Gln592Lys) c.1906C>A (p.Gln636Lys) c.1771C>A (p.Gln591Lys) n.2067C>A | |
| 2 | g.71553071C= | CA1260095652 | DYSF | c.1813C= (p.Gln605=) c.1867C= (p.Gln623=) c.1816C= (p.Gln606=) c.1864C= (p.Gln622=) c.1909C= (p.Gln637=) c.1774C= (p.Gln592=) c.1906C= (p.Gln636=) c.1771C= (p.Gln591=) n.2067C= | |
| 2 | g.71553071C>G | CA347218470 | DYSF | c.1813C>G (p.Gln605Glu) c.1867C>G (p.Gln623Glu) c.1816C>G (p.Gln606Glu) c.1864C>G (p.Gln622Glu) c.1909C>G (p.Gln637Glu) c.1774C>G (p.Gln592Glu) c.1906C>G (p.Gln636Glu) c.1771C>G (p.Gln591Glu) n.2067C>G | |
| 2 | g.71553071C>T | CA253901 | DYSF | c.1813C>T (p.Gln605Ter) c.1867C>T (p.Gln623Ter) c.1816C>T (p.Gln606Ter) c.1864C>T (p.Gln622Ter) c.1909C>T (p.Gln637Ter) c.1774C>T (p.Gln592Ter) c.1906C>T (p.Gln636Ter) c.1771C>T (p.Gln591Ter) n.2067C>T | ClinVar dbSNP |
| 2 | g.71553072A>C | CA347218474 | DYSF | c.1814A>C (p.Gln605Pro) c.1868A>C (p.Gln623Pro) c.1817A>C (p.Gln606Pro) c.1865A>C (p.Gln622Pro) c.1910A>C (p.Gln637Pro) c.1775A>C (p.Gln592Pro) c.1907A>C (p.Gln636Pro) c.1772A>C (p.Gln591Pro) n.2068A>C | |
| 2 | g.71553072A>G | CA347218471 | DYSF | c.1814A>G (p.Gln605Arg) c.1868A>G (p.Gln623Arg) c.1817A>G (p.Gln606Arg) c.1865A>G (p.Gln622Arg) c.1910A>G (p.Gln637Arg) c.1775A>G (p.Gln592Arg) c.1907A>G (p.Gln636Arg) c.1772A>G (p.Gln591Arg) n.2068A>G | |
| 2 | g.71553072A>T | CA347218472 | DYSF | c.1814A>T (p.Gln605Leu) c.1868A>T (p.Gln623Leu) c.1817A>T (p.Gln606Leu) c.1865A>T (p.Gln622Leu) c.1910A>T (p.Gln637Leu) c.1775A>T (p.Gln592Leu) c.1907A>T (p.Gln636Leu) c.1772A>T (p.Gln591Leu) n.2068A>T | |
| 2 | g.71553073G>A | CA426701303 | DYSF | c.1815G>A (p.Gln605=) c.1869G>A (p.Gln623=) c.1818G>A (p.Gln606=) c.1866G>A (p.Gln622=) c.1911G>A (p.Gln637=) c.1776G>A (p.Gln592=) c.1908G>A (p.Gln636=) c.1773G>A (p.Gln591=) n.2069G>A | |
| 2 | g.71553073G>C | CA347218476 | DYSF | c.1815G>C (p.Gln605His) c.1869G>C (p.Gln623His) c.1818G>C (p.Gln606His) c.1866G>C (p.Gln622His) c.1911G>C (p.Gln637His) c.1776G>C (p.Gln592His) c.1908G>C (p.Gln636His) c.1773G>C (p.Gln591His) n.2069G>C | |
| 2 | g.71553073G= | CA1260095653 | DYSF | c.1815G= (p.Gln605=) c.1869G= (p.Gln623=) c.1818G= (p.Gln606=) c.1866G= (p.Gln622=) c.1911G= (p.Gln637=) c.1776G= (p.Gln592=) c.1908G= (p.Gln636=) c.1773G= (p.Gln591=) n.2069G= | |
| 2 | g.71553073G>T | CA347218477 | DYSF | c.1815G>T (p.Gln605His) c.1869G>T (p.Gln623His) c.1818G>T (p.Gln606His) c.1866G>T (p.Gln622His) c.1911G>T (p.Gln637His) c.1776G>T (p.Gln592His) c.1908G>T (p.Gln636His) c.1773G>T (p.Gln591His) n.2069G>T | dbSNP gnomAD v4 COSMIC COSMIC |
| 2 | g.71553074G>A | CA347218479 | DYSF | c.1816G>A (p.Asp606Asn) c.1870G>A (p.Asp624Asn) c.1819G>A (p.Asp607Asn) c.1867G>A (p.Asp623Asn) c.1912G>A (p.Asp638Asn) c.1777G>A (p.Asp593Asn) c.1909G>A (p.Asp637Asn) c.1774G>A (p.Asp592Asn) n.2070G>A | |
| 2 | g.71553074G>C | CA347218480 | DYSF | c.1816G>C (p.Asp606His) c.1870G>C (p.Asp624His) c.1819G>C (p.Asp607His) c.1867G>C (p.Asp623His) c.1912G>C (p.Asp638His) c.1777G>C (p.Asp593His) c.1909G>C (p.Asp637His) c.1774G>C (p.Asp592His) n.2070G>C | |
| 2 | g.71553074G>T | CA347218481 | DYSF | c.1816G>T (p.Asp606Tyr) c.1870G>T (p.Asp624Tyr) c.1819G>T (p.Asp607Tyr) c.1867G>T (p.Asp623Tyr) c.1912G>T (p.Asp638Tyr) c.1777G>T (p.Asp593Tyr) c.1909G>T (p.Asp637Tyr) c.1774G>T (p.Asp592Tyr) n.2070G>T | |
| 2 | g.71553075A= | CA1260095654 | DYSF | c.1817A= (p.Asp606=) c.1871A= (p.Asp624=) c.1820A= (p.Asp607=) c.1868A= (p.Asp623=) c.1913A= (p.Asp638=) c.1778A= (p.Asp593=) c.1910A= (p.Asp637=) c.1775A= (p.Asp592=) n.2071A= | |
| 2 | g.71553075A>C | CA347218485 | DYSF | c.1817A>C (p.Asp606Ala) c.1871A>C (p.Asp624Ala) c.1820A>C (p.Asp607Ala) c.1868A>C (p.Asp623Ala) c.1913A>C (p.Asp638Ala) c.1778A>C (p.Asp593Ala) c.1910A>C (p.Asp637Ala) c.1775A>C (p.Asp592Ala) n.2071A>C | |
| 2 | g.71553075A>G | CA347218483 | DYSF | c.1817A>G (p.Asp606Gly) c.1871A>G (p.Asp624Gly) c.1820A>G (p.Asp607Gly) c.1868A>G (p.Asp623Gly) c.1913A>G (p.Asp638Gly) c.1778A>G (p.Asp593Gly) c.1910A>G (p.Asp637Gly) c.1775A>G (p.Asp592Gly) n.2071A>G | |
| 2 | g.71553075A>T | CA49795141 | DYSF | c.1817A>T (p.Asp606Val) c.1871A>T (p.Asp624Val) c.1820A>T (p.Asp607Val) c.1868A>T (p.Asp623Val) c.1913A>T (p.Asp638Val) c.1778A>T (p.Asp593Val) c.1910A>T (p.Asp637Val) c.1775A>T (p.Asp592Val) n.2071A>T | dbSNP gnomAD v4 |
| 2 | g.71553076T>A | CA347218487 | DYSF | c.1818T>A (p.Asp606Glu) c.1872T>A (p.Asp624Glu) c.1821T>A (p.Asp607Glu) c.1869T>A (p.Asp623Glu) c.1914T>A (p.Asp638Glu) c.1779T>A (p.Asp593Glu) c.1911T>A (p.Asp637Glu) c.1776T>A (p.Asp592Glu) n.2072T>A | |
| 2 | g.71553076T>C | CA426701304 | DYSF | c.1818T>C (p.Asp606=) c.1872T>C (p.Asp624=) c.1821T>C (p.Asp607=) c.1869T>C (p.Asp623=) c.1914T>C (p.Asp638=) c.1779T>C (p.Asp593=) c.1911T>C (p.Asp637=) c.1776T>C (p.Asp592=) n.2072T>C | ClinVar dbSNP |
| 2 | g.71553076T>G | CA347218488 | DYSF | c.1818T>G (p.Asp606Glu) c.1872T>G (p.Asp624Glu) c.1821T>G (p.Asp607Glu) c.1869T>G (p.Asp623Glu) c.1914T>G (p.Asp638Glu) c.1779T>G (p.Asp593Glu) c.1911T>G (p.Asp637Glu) c.1776T>G (p.Asp592Glu) n.2072T>G | |
| 2 | g.71553076T= | CA1260095655 | DYSF | c.1818T= (p.Asp606=) c.1872T= (p.Asp624=) c.1821T= (p.Asp607=) c.1869T= (p.Asp623=) c.1914T= (p.Asp638=) c.1779T= (p.Asp593=) c.1911T= (p.Asp637=) c.1776T= (p.Asp592=) n.2072T= | |
| 2 | g.71553077G>A | CA347218490 | DYSF | c.1819G>A (p.Val607Met) c.1873G>A (p.Val625Met) c.1822G>A (p.Val608Met) c.1870G>A (p.Val624Met) c.1915G>A (p.Val639Met) c.1780G>A (p.Val594Met) c.1912G>A (p.Val638Met) c.1777G>A (p.Val593Met) n.2073G>A | gnomAD v4 |
| 2 | g.71553077G>C | CA347218492 | DYSF | c.1819G>C (p.Val607Leu) c.1873G>C (p.Val625Leu) c.1822G>C (p.Val608Leu) c.1870G>C (p.Val624Leu) c.1915G>C (p.Val639Leu) c.1780G>C (p.Val594Leu) c.1912G>C (p.Val638Leu) c.1777G>C (p.Val593Leu) n.2073G>C | |
| 2 | g.71553077G>T | CA347218493 | DYSF | c.1819G>T (p.Val607Leu) c.1873G>T (p.Val625Leu) c.1822G>T (p.Val608Leu) c.1870G>T (p.Val624Leu) c.1915G>T (p.Val639Leu) c.1780G>T (p.Val594Leu) c.1912G>T (p.Val638Leu) c.1777G>T (p.Val593Leu) n.2073G>T | |
| 2 | g.71553078T>A | CA347218495 | DYSF | c.1820T>A (p.Val607Glu) c.1874T>A (p.Val625Glu) c.1823T>A (p.Val608Glu) c.1871T>A (p.Val624Glu) c.1916T>A (p.Val639Glu) c.1781T>A (p.Val594Glu) c.1913T>A (p.Val638Glu) c.1778T>A (p.Val593Glu) n.2074T>A | |
| 2 | g.71553078T>C | CA347218496 | DYSF | c.1820T>C (p.Val607Ala) c.1874T>C (p.Val625Ala) c.1823T>C (p.Val608Ala) c.1871T>C (p.Val624Ala) c.1916T>C (p.Val639Ala) c.1781T>C (p.Val594Ala) c.1913T>C (p.Val638Ala) c.1778T>C (p.Val593Ala) n.2074T>C | |
| 2 | g.71553078T>G | CA347218498 | DYSF | c.1820T>G (p.Val607Gly) c.1874T>G (p.Val625Gly) c.1823T>G (p.Val608Gly) c.1871T>G (p.Val624Gly) c.1916T>G (p.Val639Gly) c.1781T>G (p.Val594Gly) c.1913T>G (p.Val638Gly) c.1778T>G (p.Val593Gly) n.2074T>G | |
| 2 | g.71553079G>A | CA1705974 | DYSF | c.1821G>A (p.Val607=) c.1875G>A (p.Val625=) c.1824G>A (p.Val608=) c.1872G>A (p.Val624=) c.1917G>A (p.Val639=) c.1782G>A (p.Val594=) c.1914G>A (p.Val638=) c.1779G>A (p.Val593=) n.2075G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.71553079G>C | CA426701305 | DYSF | c.1821G>C (p.Val607=) c.1875G>C (p.Val625=) c.1824G>C (p.Val608=) c.1872G>C (p.Val624=) c.1917G>C (p.Val639=) c.1782G>C (p.Val594=) c.1914G>C (p.Val638=) c.1779G>C (p.Val593=) n.2075G>C | |
| 2 | g.71553079G= | CA1260095656 | DYSF | c.1821G= (p.Val607=) c.1875G= (p.Val625=) c.1824G= (p.Val608=) c.1872G= (p.Val624=) c.1917G= (p.Val639=) c.1782G= (p.Val594=) c.1914G= (p.Val638=) c.1779G= (p.Val593=) n.2075G= | |
| 2 | g.71553079G>T | CA426701306 | DYSF | c.1821G>T (p.Val607=) c.1875G>T (p.Val625=) c.1824G>T (p.Val608=) c.1872G>T (p.Val624=) c.1917G>T (p.Val639=) c.1782G>T (p.Val594=) c.1914G>T (p.Val638=) c.1779G>T (p.Val593=) n.2075G>T | |
| 2 | g.71553080G>A | CA347218500 | DYSF | c.1822G>A (p.Asp608Asn) c.1876G>A (p.Asp626Asn) c.1825G>A (p.Asp609Asn) c.1873G>A (p.Asp625Asn) c.1918G>A (p.Asp640Asn) c.1783G>A (p.Asp595Asn) c.1915G>A (p.Asp639Asn) c.1780G>A (p.Asp594Asn) n.2076G>A | dbSNP gnomAD v2 |
| 2 | g.71553080G>C | CA347218501 | DYSF | c.1822G>C (p.Asp608His) c.1876G>C (p.Asp626His) c.1825G>C (p.Asp609His) c.1873G>C (p.Asp625His) c.1918G>C (p.Asp640His) c.1783G>C (p.Asp595His) c.1915G>C (p.Asp639His) c.1780G>C (p.Asp594His) n.2076G>C | |
| 2 | g.71553080G= | CA1260095657 | DYSF | c.1822G= (p.Asp608=) c.1876G= (p.Asp626=) c.1825G= (p.Asp609=) c.1873G= (p.Asp625=) c.1918G= (p.Asp640=) c.1783G= (p.Asp595=) c.1915G= (p.Asp639=) c.1780G= (p.Asp594=) n.2076G= | |
| 2 | g.71553080G>T | CA347218502 | DYSF | c.1822G>T (p.Asp608Tyr) c.1876G>T (p.Asp626Tyr) c.1825G>T (p.Asp609Tyr) c.1873G>T (p.Asp625Tyr) c.1918G>T (p.Asp640Tyr) c.1783G>T (p.Asp595Tyr) c.1915G>T (p.Asp639Tyr) c.1780G>T (p.Asp594Tyr) n.2076G>T | |
| 2 | g.71553081A>C | CA347218504 | DYSF | c.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 | |
| 2 | g.71553081A>G | CA347218507 | DYSF | c.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 | |
| 2 | g.71553081A>T | CA347218506 | DYSF | c.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 | |
| 2 | g.71553082T>A | CA347218509 | DYSF | c.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 | |
| 2 | g.71553082T>C | CA426701307 | DYSF | c.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 |
| 2 | g.71553082T>G | CA347218510 | DYSF | c.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 | |
| 2 | g.71553083G>A | CA347218511 | DYSF | c.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 |
| 2 | g.71553083G>C | CA347218513 | DYSF | c.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 | |
| 2 | g.71553083G= | CA1260095658 | DYSF | c.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= | |
| 2 | g.71553083G>T | CA347218514 | DYSF | c.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 | |
| 2 | g.71553084A>C | CA347218516 | DYSF | c.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 | |
| 2 | g.71553084A>G | CA347218518 | DYSF | c.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 | |
| 2 | g.71553084A>T | CA347218519 | DYSF | c.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 | |
| 2 | g.71553085T>A | CA347218520 | DYSF | c.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 |