| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71553031G>A | CA426701277 | DYSF | c.1773G>A (p.Lys591=) c.1827G>A (p.Lys609=) c.1776G>A (p.Lys592=) c.1824G>A (p.Lys608=) c.1869G>A (p.Lys623=) c.1734G>A (p.Lys578=) c.1866G>A (p.Lys622=) c.1731G>A (p.Lys577=) n.2027G>A | |
| 2 | g.71553031G>C | CA347218349 | DYSF | c.1773G>C (p.Lys591Asn) c.1827G>C (p.Lys609Asn) c.1776G>C (p.Lys592Asn) c.1824G>C (p.Lys608Asn) c.1869G>C (p.Lys623Asn) c.1734G>C (p.Lys578Asn) c.1866G>C (p.Lys622Asn) c.1731G>C (p.Lys577Asn) n.2027G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.71553031G= | CA1260095629 | DYSF | c.1773G= (p.Lys591=) c.1827G= (p.Lys609=) c.1776G= (p.Lys592=) c.1824G= (p.Lys608=) c.1869G= (p.Lys623=) c.1734G= (p.Lys578=) c.1866G= (p.Lys622=) c.1731G= (p.Lys577=) n.2027G= | |
| 2 | g.71553031G>T | CA347218350 | DYSF | c.1773G>T (p.Lys591Asn) c.1827G>T (p.Lys609Asn) c.1776G>T (p.Lys592Asn) c.1824G>T (p.Lys608Asn) c.1869G>T (p.Lys623Asn) c.1734G>T (p.Lys578Asn) c.1866G>T (p.Lys622Asn) c.1731G>T (p.Lys577Asn) n.2027G>T | |
| 2 | g.71553032T>A | CA347218352 | DYSF | c.1774T>A (p.Tyr592Asn) c.1828T>A (p.Tyr610Asn) c.1777T>A (p.Tyr593Asn) c.1825T>A (p.Tyr609Asn) c.1870T>A (p.Tyr624Asn) c.1735T>A (p.Tyr579Asn) c.1867T>A (p.Tyr623Asn) c.1732T>A (p.Tyr578Asn) n.2028T>A | |
| 2 | g.71553032T>C | CA347218353 | DYSF | c.1774T>C (p.Tyr592His) c.1828T>C (p.Tyr610His) c.1777T>C (p.Tyr593His) c.1825T>C (p.Tyr609His) c.1870T>C (p.Tyr624His) c.1735T>C (p.Tyr579His) c.1867T>C (p.Tyr623His) c.1732T>C (p.Tyr578His) n.2028T>C | dbSNP |
| 2 | g.71553032T>G | CA347218355 | DYSF | c.1774T>G (p.Tyr592Asp) c.1828T>G (p.Tyr610Asp) c.1777T>G (p.Tyr593Asp) c.1825T>G (p.Tyr609Asp) c.1870T>G (p.Tyr624Asp) c.1735T>G (p.Tyr579Asp) c.1867T>G (p.Tyr623Asp) c.1732T>G (p.Tyr578Asp) n.2028T>G | |
| 2 | g.71553032T= | CA1260095630 | DYSF | c.1774T= (p.Tyr592=) c.1828T= (p.Tyr610=) c.1777T= (p.Tyr593=) c.1825T= (p.Tyr609=) c.1870T= (p.Tyr624=) c.1735T= (p.Tyr579=) c.1867T= (p.Tyr623=) c.1732T= (p.Tyr578=) n.2028T= | |
| 2 | g.71553033A= | CA1260095631 | DYSF | c.1775A= (p.Tyr592=) c.1829A= (p.Tyr610=) c.1778A= (p.Tyr593=) c.1826A= (p.Tyr609=) c.1871A= (p.Tyr624=) c.1736A= (p.Tyr579=) c.1868A= (p.Tyr623=) c.1733A= (p.Tyr578=) n.2029A= | |
| 2 | g.71553033A>C | CA347218356 | DYSF | c.1775A>C (p.Tyr592Ser) c.1829A>C (p.Tyr610Ser) c.1778A>C (p.Tyr593Ser) c.1826A>C (p.Tyr609Ser) c.1871A>C (p.Tyr624Ser) c.1736A>C (p.Tyr579Ser) c.1868A>C (p.Tyr623Ser) c.1733A>C (p.Tyr578Ser) n.2029A>C | dbSNP |
| 2 | g.71553033A>G | CA347218357 | DYSF | c.1775A>G (p.Tyr592Cys) c.1829A>G (p.Tyr610Cys) c.1778A>G (p.Tyr593Cys) c.1826A>G (p.Tyr609Cys) c.1871A>G (p.Tyr624Cys) c.1736A>G (p.Tyr579Cys) c.1868A>G (p.Tyr623Cys) c.1733A>G (p.Tyr578Cys) n.2029A>G | |
| 2 | g.71553033A>T | CA347218359 | DYSF | c.1775A>T (p.Tyr592Phe) c.1829A>T (p.Tyr610Phe) c.1778A>T (p.Tyr593Phe) c.1826A>T (p.Tyr609Phe) c.1871A>T (p.Tyr624Phe) c.1736A>T (p.Tyr579Phe) c.1868A>T (p.Tyr623Phe) c.1733A>T (p.Tyr578Phe) n.2029A>T | |
| 2 | g.71553034C>A | CA347218360 | DYSF | c.1776C>A (p.Tyr592Ter) c.1830C>A (p.Tyr610Ter) c.1779C>A (p.Tyr593Ter) c.1827C>A (p.Tyr609Ter) c.1872C>A (p.Tyr624Ter) c.1737C>A (p.Tyr579Ter) c.1869C>A (p.Tyr623Ter) c.1734C>A (p.Tyr578Ter) n.2030C>A | |
| 2 | g.71553034C>G | CA347218362 | DYSF | c.1776C>G (p.Tyr592Ter) c.1830C>G (p.Tyr610Ter) c.1779C>G (p.Tyr593Ter) c.1827C>G (p.Tyr609Ter) c.1872C>G (p.Tyr624Ter) c.1737C>G (p.Tyr579Ter) c.1869C>G (p.Tyr623Ter) c.1734C>G (p.Tyr578Ter) n.2030C>G | |
| 2 | g.71553034C>T | CA426701278 | DYSF | c.1776C>T (p.Tyr592=) c.1830C>T (p.Tyr610=) c.1779C>T (p.Tyr593=) c.1827C>T (p.Tyr609=) c.1872C>T (p.Tyr624=) c.1737C>T (p.Tyr579=) c.1869C>T (p.Tyr623=) c.1734C>T (p.Tyr578=) n.2030C>T | ClinVar dbSNP |
| 2 | g.71553035T>A | CA347218364 | DYSF | c.1777T>A (p.Ser593Thr) c.1831T>A (p.Ser611Thr) c.1780T>A (p.Ser594Thr) c.1828T>A (p.Ser610Thr) c.1873T>A (p.Ser625Thr) c.1738T>A (p.Ser580Thr) c.1870T>A (p.Ser624Thr) c.1735T>A (p.Ser579Thr) n.2031T>A | |
| 2 | g.71553035T>C | CA347218365 | DYSF | c.1777T>C (p.Ser593Pro) c.1831T>C (p.Ser611Pro) c.1780T>C (p.Ser594Pro) c.1828T>C (p.Ser610Pro) c.1873T>C (p.Ser625Pro) c.1738T>C (p.Ser580Pro) c.1870T>C (p.Ser624Pro) c.1735T>C (p.Ser579Pro) n.2031T>C | |
| 2 | g.71553035T>G | CA347218367 | DYSF | c.1777T>G (p.Ser593Ala) c.1831T>G (p.Ser611Ala) c.1780T>G (p.Ser594Ala) c.1828T>G (p.Ser610Ala) c.1873T>G (p.Ser625Ala) c.1738T>G (p.Ser580Ala) c.1870T>G (p.Ser624Ala) c.1735T>G (p.Ser579Ala) n.2031T>G | |
| 2 | g.71553036C>A | CA347218369 | DYSF | c.1778C>A (p.Ser593Tyr) c.1832C>A (p.Ser611Tyr) c.1781C>A (p.Ser594Tyr) c.1829C>A (p.Ser610Tyr) c.1874C>A (p.Ser625Tyr) c.1739C>A (p.Ser580Tyr) c.1871C>A (p.Ser624Tyr) c.1736C>A (p.Ser579Tyr) n.2032C>A | |
| 2 | g.71553036C= | CA1260095632 | DYSF | c.1778C= (p.Ser593=) c.1832C= (p.Ser611=) c.1781C= (p.Ser594=) c.1829C= (p.Ser610=) c.1874C= (p.Ser625=) c.1739C= (p.Ser580=) c.1871C= (p.Ser624=) c.1736C= (p.Ser579=) n.2032C= | |
| 2 | g.71553036C>G | CA347218370 | DYSF | c.1778C>G (p.Ser593Cys) c.1832C>G (p.Ser611Cys) c.1781C>G (p.Ser594Cys) c.1829C>G (p.Ser610Cys) c.1874C>G (p.Ser625Cys) c.1739C>G (p.Ser580Cys) c.1871C>G (p.Ser624Cys) c.1736C>G (p.Ser579Cys) n.2032C>G | |
| 2 | g.71553036C>T | CA1705967 | DYSF | c.1778C>T (p.Ser593Phe) c.1832C>T (p.Ser611Phe) c.1781C>T (p.Ser594Phe) c.1829C>T (p.Ser610Phe) c.1874C>T (p.Ser625Phe) c.1739C>T (p.Ser580Phe) c.1871C>T (p.Ser624Phe) c.1736C>T (p.Ser579Phe) n.2032C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71553037C>A | CA426701281 | DYSF | c.1779C>A (p.Ser593=) c.1833C>A (p.Ser611=) c.1782C>A (p.Ser594=) c.1830C>A (p.Ser610=) c.1875C>A (p.Ser625=) c.1740C>A (p.Ser580=) c.1872C>A (p.Ser624=) c.1737C>A (p.Ser579=) n.2033C>A | |
| 2 | g.71553037C>G | CA426701279 | DYSF | c.1779C>G (p.Ser593=) c.1833C>G (p.Ser611=) c.1782C>G (p.Ser594=) c.1830C>G (p.Ser610=) c.1875C>G (p.Ser625=) c.1740C>G (p.Ser580=) c.1872C>G (p.Ser624=) c.1737C>G (p.Ser579=) n.2033C>G | |
| 2 | g.71553037C>T | CA426701280 | DYSF | c.1779C>T (p.Ser593=) c.1833C>T (p.Ser611=) c.1782C>T (p.Ser594=) c.1830C>T (p.Ser610=) c.1875C>T (p.Ser625=) c.1740C>T (p.Ser580=) c.1872C>T (p.Ser624=) c.1737C>T (p.Ser579=) n.2033C>T | |
| 2 | g.71553037_71553039delinsCCT | CA1260095633 | DYSF | c.1779_1781delinsCCT (p.Ser593=) c.1833_1835delinsCCT (p.Ser611=) c.1782_1784delinsCCT (p.Ser594=) c.1830_1832delinsCCT (p.Ser610=) c.1875_1877delinsCCT (p.Ser625=) c.1740_1742delinsCCT (p.Ser580=) c.1872_1874delinsCCT (p.Ser624=) c.1737_1739delinsCCT (p.Ser579=) n.2033_2035delinsCCT | |
| 2 | g.71553038C>A | CA347218372 | DYSF | c.1780C>A (p.Leu594Met) c.1834C>A (p.Leu612Met) c.1783C>A (p.Leu595Met) c.1831C>A (p.Leu611Met) c.1876C>A (p.Leu626Met) c.1741C>A (p.Leu581Met) c.1873C>A (p.Leu625Met) c.1738C>A (p.Leu580Met) n.2034C>A | |
| 2 | g.71553038C>G | CA347218374 | DYSF | c.1780C>G (p.Leu594Val) c.1834C>G (p.Leu612Val) c.1783C>G (p.Leu595Val) c.1831C>G (p.Leu611Val) c.1876C>G (p.Leu626Val) c.1741C>G (p.Leu581Val) c.1873C>G (p.Leu625Val) c.1738C>G (p.Leu580Val) n.2034C>G | |
| 2 | g.71553038C>T | CA426701282 | DYSF | c.1780C>T (p.Leu594=) c.1834C>T (p.Leu612=) c.1783C>T (p.Leu595=) c.1831C>T (p.Leu611=) c.1876C>T (p.Leu626=) c.1741C>T (p.Leu581=) c.1873C>T (p.Leu625=) c.1738C>T (p.Leu580=) n.2034C>T | |
| 2 | g.71553038_71553039del | CA891842854 | DYSF | c.1780_1781del (p.Leu594ValfsTer15) c.1834_1835del (p.Leu612ValfsTer15) c.1783_1784del (p.Leu595ValfsTer15) c.1831_1832del (p.Leu611ValfsTer15) c.1876_1877del (p.Leu626ValfsTer15) c.1741_1742del (p.Leu581ValfsTer15) c.1873_1874del (p.Leu625ValfsTer15) c.1738_1739del (p.Leu580ValfsTer15) n.2034_2035del | ClinVar dbSNP |
| 2 | g.71553039T>A | CA347218375 | DYSF | c.1781T>A (p.Leu594Gln) c.1835T>A (p.Leu612Gln) c.1784T>A (p.Leu595Gln) c.1832T>A (p.Leu611Gln) c.1877T>A (p.Leu626Gln) c.1742T>A (p.Leu581Gln) c.1874T>A (p.Leu625Gln) c.1739T>A (p.Leu580Gln) n.2035T>A | |
| 2 | g.71553039T>C | CA347218377 | DYSF | c.1781T>C (p.Leu594Pro) c.1835T>C (p.Leu612Pro) c.1784T>C (p.Leu595Pro) c.1832T>C (p.Leu611Pro) c.1877T>C (p.Leu626Pro) c.1742T>C (p.Leu581Pro) c.1874T>C (p.Leu625Pro) c.1739T>C (p.Leu580Pro) n.2035T>C | |
| 2 | g.71553039T>G | CA347218378 | DYSF | c.1781T>G (p.Leu594Arg) c.1835T>G (p.Leu612Arg) c.1784T>G (p.Leu595Arg) c.1832T>G (p.Leu611Arg) c.1877T>G (p.Leu626Arg) c.1742T>G (p.Leu581Arg) c.1874T>G (p.Leu625Arg) c.1739T>G (p.Leu580Arg) n.2035T>G | |
| 2 | g.71553040G>A | CA426701283 | DYSF | c.1782G>A (p.Leu594=) c.1836G>A (p.Leu612=) c.1785G>A (p.Leu595=) c.1833G>A (p.Leu611=) c.1878G>A (p.Leu626=) c.1743G>A (p.Leu581=) c.1875G>A (p.Leu625=) c.1740G>A (p.Leu580=) n.2036G>A | |
| 2 | g.71553040G>C | CA1705968 | DYSF | c.1782G>C (p.Leu594=) c.1836G>C (p.Leu612=) c.1785G>C (p.Leu595=) c.1833G>C (p.Leu611=) c.1878G>C (p.Leu626=) c.1743G>C (p.Leu581=) c.1875G>C (p.Leu625=) c.1740G>C (p.Leu580=) n.2036G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.71553040G= | CA1260095634 | DYSF | c.1782G= (p.Leu594=) c.1836G= (p.Leu612=) c.1785G= (p.Leu595=) c.1833G= (p.Leu611=) c.1878G= (p.Leu626=) c.1743G= (p.Leu581=) c.1875G= (p.Leu625=) c.1740G= (p.Leu580=) n.2036G= | |
| 2 | g.71553040G>T | CA426701284 | DYSF | c.1782G>T (p.Leu594=) c.1836G>T (p.Leu612=) c.1785G>T (p.Leu595=) c.1833G>T (p.Leu611=) c.1878G>T (p.Leu626=) c.1743G>T (p.Leu581=) c.1875G>T (p.Leu625=) c.1740G>T (p.Leu580=) n.2036G>T | |
| 2 | g.71553041T>A | CA347218380 | DYSF | c.1783T>A (p.Phe595Ile) c.1837T>A (p.Phe613Ile) c.1786T>A (p.Phe596Ile) c.1834T>A (p.Phe612Ile) c.1879T>A (p.Phe627Ile) c.1744T>A (p.Phe582Ile) c.1876T>A (p.Phe626Ile) c.1741T>A (p.Phe581Ile) n.2037T>A | |
| 2 | g.71553041T>C | CA347218383 | DYSF | c.1783T>C (p.Phe595Leu) c.1837T>C (p.Phe613Leu) c.1786T>C (p.Phe596Leu) c.1834T>C (p.Phe612Leu) c.1879T>C (p.Phe627Leu) c.1744T>C (p.Phe582Leu) c.1876T>C (p.Phe626Leu) c.1741T>C (p.Phe581Leu) n.2037T>C | |
| 2 | g.71553041T>G | CA347218382 | DYSF | c.1783T>G (p.Phe595Val) c.1837T>G (p.Phe613Val) c.1786T>G (p.Phe596Val) c.1834T>G (p.Phe612Val) c.1879T>G (p.Phe627Val) c.1744T>G (p.Phe582Val) c.1876T>G (p.Phe626Val) c.1741T>G (p.Phe581Val) n.2037T>G | |
| 2 | g.71553042T>A | CA347218385 | DYSF | c.1784T>A (p.Phe595Tyr) c.1838T>A (p.Phe613Tyr) c.1787T>A (p.Phe596Tyr) c.1835T>A (p.Phe612Tyr) c.1880T>A (p.Phe627Tyr) c.1745T>A (p.Phe582Tyr) c.1877T>A (p.Phe626Tyr) c.1742T>A (p.Phe581Tyr) n.2038T>A | |
| 2 | g.71553042T>C | CA347218387 | DYSF | c.1784T>C (p.Phe595Ser) c.1838T>C (p.Phe613Ser) c.1787T>C (p.Phe596Ser) c.1835T>C (p.Phe612Ser) c.1880T>C (p.Phe627Ser) c.1745T>C (p.Phe582Ser) c.1877T>C (p.Phe626Ser) c.1742T>C (p.Phe581Ser) n.2038T>C | |
| 2 | g.71553042T>G | CA347218386 | DYSF | c.1784T>G (p.Phe595Cys) c.1838T>G (p.Phe613Cys) c.1787T>G (p.Phe596Cys) c.1835T>G (p.Phe612Cys) c.1880T>G (p.Phe627Cys) c.1745T>G (p.Phe582Cys) c.1877T>G (p.Phe626Cys) c.1742T>G (p.Phe581Cys) n.2038T>G | |
| 2 | g.71553043T>A | CA347218389 | DYSF | c.1785T>A (p.Phe595Leu) c.1839T>A (p.Phe613Leu) c.1788T>A (p.Phe596Leu) c.1836T>A (p.Phe612Leu) c.1881T>A (p.Phe627Leu) c.1746T>A (p.Phe582Leu) c.1878T>A (p.Phe626Leu) c.1743T>A (p.Phe581Leu) n.2039T>A | |
| 2 | g.71553043T>C | CA49794974 | DYSF | c.1785T>C (p.Phe595=) c.1839T>C (p.Phe613=) c.1788T>C (p.Phe596=) c.1836T>C (p.Phe612=) c.1881T>C (p.Phe627=) c.1746T>C (p.Phe582=) c.1878T>C (p.Phe626=) c.1743T>C (p.Phe581=) n.2039T>C | dbSNP |
| 2 | g.71553043T>G | CA347218390 | DYSF | c.1785T>G (p.Phe595Leu) c.1839T>G (p.Phe613Leu) c.1788T>G (p.Phe596Leu) c.1836T>G (p.Phe612Leu) c.1881T>G (p.Phe627Leu) c.1746T>G (p.Phe582Leu) c.1878T>G (p.Phe626Leu) c.1743T>G (p.Phe581Leu) n.2039T>G | |
| 2 | g.71553043T= | CA1260095635 | DYSF | c.1785T= (p.Phe595=) c.1839T= (p.Phe613=) c.1788T= (p.Phe596=) c.1836T= (p.Phe612=) c.1881T= (p.Phe627=) c.1746T= (p.Phe582=) c.1878T= (p.Phe626=) c.1743T= (p.Phe581=) n.2039T= | |
| 2 | g.71553044G>A | CA347218392 | DYSF | c.1786G>A (p.Ala596Thr) c.1840G>A (p.Ala614Thr) c.1789G>A (p.Ala597Thr) c.1837G>A (p.Ala613Thr) c.1882G>A (p.Ala628Thr) c.1747G>A (p.Ala583Thr) c.1879G>A (p.Ala627Thr) c.1744G>A (p.Ala582Thr) n.2040G>A | ClinVar dbSNP |
| 2 | g.71553044G>C | CA347218393 | DYSF | c.1786G>C (p.Ala596Pro) c.1840G>C (p.Ala614Pro) c.1789G>C (p.Ala597Pro) c.1837G>C (p.Ala613Pro) c.1882G>C (p.Ala628Pro) c.1747G>C (p.Ala583Pro) c.1879G>C (p.Ala627Pro) c.1744G>C (p.Ala582Pro) n.2040G>C | |
| 2 | g.71553044G= | CA1260095636 | DYSF | c.1786G= (p.Ala596=) c.1840G= (p.Ala614=) c.1789G= (p.Ala597=) c.1837G= (p.Ala613=) c.1882G= (p.Ala628=) c.1747G= (p.Ala583=) c.1879G= (p.Ala627=) c.1744G= (p.Ala582=) n.2040G= |