Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.110800551G>ACA374478425MUSKc.2173G>A (p.Asp725Asn)
c.1915G>A (p.Asp639Asn)
c.2149G>A (p.Asp717Asn)
c.1885G>A (p.Asp629Asn)
c.2203G>A (p.Asp735Asn)
c.2179G>A (p.Asp727Asn)
c.2233G>A (p.Asp745Asn)
c.937G>A (p.Asp313Asn)
c.1939G>A (p.Asp647Asn)
c.913G>A (p.Asp305Asn)
 COSMIC COSMIC
9g.110800551G>CCA374478428MUSKc.2173G>C (p.Asp725His)
c.1915G>C (p.Asp639His)
c.2149G>C (p.Asp717His)
c.1885G>C (p.Asp629His)
c.2203G>C (p.Asp735His)
c.2179G>C (p.Asp727His)
c.2233G>C (p.Asp745His)
c.937G>C (p.Asp313His)
c.1939G>C (p.Asp647His)
c.913G>C (p.Asp305His)
9g.110800551G>TCA374478429MUSKc.2173G>T (p.Asp725Tyr)
c.1915G>T (p.Asp639Tyr)
c.2149G>T (p.Asp717Tyr)
c.1885G>T (p.Asp629Tyr)
c.2203G>T (p.Asp735Tyr)
c.2179G>T (p.Asp727Tyr)
c.2233G>T (p.Asp745Tyr)
c.937G>T (p.Asp313Tyr)
c.1939G>T (p.Asp647Tyr)
c.913G>T (p.Asp305Tyr)
9g.110800552A>CCA374478431MUSKc.2174A>C (p.Asp725Ala)
c.1916A>C (p.Asp639Ala)
c.2150A>C (p.Asp717Ala)
c.1886A>C (p.Asp629Ala)
c.2204A>C (p.Asp735Ala)
c.2180A>C (p.Asp727Ala)
c.2234A>C (p.Asp745Ala)
c.938A>C (p.Asp313Ala)
c.1940A>C (p.Asp647Ala)
c.914A>C (p.Asp305Ala)
9g.110800552A>GCA374478436MUSKc.2174A>G (p.Asp725Gly)
c.1916A>G (p.Asp639Gly)
c.2150A>G (p.Asp717Gly)
c.1886A>G (p.Asp629Gly)
c.2204A>G (p.Asp735Gly)
c.2180A>G (p.Asp727Gly)
c.2234A>G (p.Asp745Gly)
c.938A>G (p.Asp313Gly)
c.1940A>G (p.Asp647Gly)
c.914A>G (p.Asp305Gly)
9g.110800552A>TCA374478447MUSKc.2174A>T (p.Asp725Val)
c.1916A>T (p.Asp639Val)
c.2150A>T (p.Asp717Val)
c.1886A>T (p.Asp629Val)
c.2204A>T (p.Asp735Val)
c.2180A>T (p.Asp727Val)
c.2234A>T (p.Asp745Val)
c.938A>T (p.Asp313Val)
c.1940A>T (p.Asp647Val)
c.914A>T (p.Asp305Val)
9g.110800553T>ACA374478451MUSKc.2175T>A (p.Asp725Glu)
c.1917T>A (p.Asp639Glu)
c.2151T>A (p.Asp717Glu)
c.1887T>A (p.Asp629Glu)
c.2205T>A (p.Asp735Glu)
c.2181T>A (p.Asp727Glu)
c.2235T>A (p.Asp745Glu)
c.939T>A (p.Asp313Glu)
c.1941T>A (p.Asp647Glu)
c.915T>A (p.Asp305Glu)
9g.110800553T>CCA466900873MUSKc.2175T>C (p.Asp725=)
c.1917T>C (p.Asp639=)
c.2151T>C (p.Asp717=)
c.1887T>C (p.Asp629=)
c.2205T>C (p.Asp735=)
c.2181T>C (p.Asp727=)
c.2235T>C (p.Asp745=)
c.939T>C (p.Asp313=)
c.1941T>C (p.Asp647=)
c.915T>C (p.Asp305=)
 gnomAD v4
9g.110800553T>GCA374478454MUSKc.2175T>G (p.Asp725Glu)
c.1917T>G (p.Asp639Glu)
c.2151T>G (p.Asp717Glu)
c.1887T>G (p.Asp629Glu)
c.2205T>G (p.Asp735Glu)
c.2181T>G (p.Asp727Glu)
c.2235T>G (p.Asp745Glu)
c.939T>G (p.Asp313Glu)
c.1941T>G (p.Asp647Glu)
c.915T>G (p.Asp305Glu)
9g.110800554T>ACA374478457MUSKc.2176T>A (p.Leu726Ile)
c.1918T>A (p.Leu640Ile)
c.2152T>A (p.Leu718Ile)
c.1888T>A (p.Leu630Ile)
c.2206T>A (p.Leu736Ile)
c.2182T>A (p.Leu728Ile)
c.2236T>A (p.Leu746Ile)
c.940T>A (p.Leu314Ile)
c.1942T>A (p.Leu648Ile)
c.916T>A (p.Leu306Ile)
9g.110800554T>CCA466900874MUSKc.2176T>C (p.Leu726=)
c.1918T>C (p.Leu640=)
c.2152T>C (p.Leu718=)
c.1888T>C (p.Leu630=)
c.2206T>C (p.Leu736=)
c.2182T>C (p.Leu728=)
c.2236T>C (p.Leu746=)
c.940T>C (p.Leu314=)
c.1942T>C (p.Leu648=)
c.916T>C (p.Leu306=)
9g.110800554T>GCA374478462MUSKc.2176T>G (p.Leu726Val)
c.1918T>G (p.Leu640Val)
c.2152T>G (p.Leu718Val)
c.1888T>G (p.Leu630Val)
c.2206T>G (p.Leu736Val)
c.2182T>G (p.Leu728Val)
c.2236T>G (p.Leu746Val)
c.940T>G (p.Leu314Val)
c.1942T>G (p.Leu648Val)
c.916T>G (p.Leu306Val)
9g.110800555T>ACA374478465MUSKc.2177T>A (p.Leu726Ter)
c.1919T>A (p.Leu640Ter)
c.2153T>A (p.Leu718Ter)
c.1889T>A (p.Leu630Ter)
c.2207T>A (p.Leu736Ter)
c.2183T>A (p.Leu728Ter)
c.2237T>A (p.Leu746Ter)
c.941T>A (p.Leu314Ter)
c.1943T>A (p.Leu648Ter)
c.917T>A (p.Leu306Ter)
9g.110800555T>CCA374478466MUSKc.2177T>C (p.Leu726Ser)
c.1919T>C (p.Leu640Ser)
c.2153T>C (p.Leu718Ser)
c.1889T>C (p.Leu630Ser)
c.2207T>C (p.Leu736Ser)
c.2183T>C (p.Leu728Ser)
c.2237T>C (p.Leu746Ser)
c.941T>C (p.Leu314Ser)
c.1943T>C (p.Leu648Ser)
c.917T>C (p.Leu306Ser)
9g.110800555T>GCA374478467MUSKc.2177T>G (p.Leu726Ter)
c.1919T>G (p.Leu640Ter)
c.2153T>G (p.Leu718Ter)
c.1889T>G (p.Leu630Ter)
c.2207T>G (p.Leu736Ter)
c.2183T>G (p.Leu728Ter)
c.2237T>G (p.Leu746Ter)
c.941T>G (p.Leu314Ter)
c.1943T>G (p.Leu648Ter)
c.917T>G (p.Leu306Ter)
9g.110800556A>CCA374478468MUSKc.2178A>C (p.Leu726Phe)
c.1920A>C (p.Leu640Phe)
c.2154A>C (p.Leu718Phe)
c.1890A>C (p.Leu630Phe)
c.2208A>C (p.Leu736Phe)
c.2184A>C (p.Leu728Phe)
c.2238A>C (p.Leu746Phe)
c.942A>C (p.Leu314Phe)
c.1944A>C (p.Leu648Phe)
c.918A>C (p.Leu306Phe)
9g.110800556A>GCA466900875MUSKc.2178A>G (p.Leu726=)
c.1920A>G (p.Leu640=)
c.2154A>G (p.Leu718=)
c.1890A>G (p.Leu630=)
c.2208A>G (p.Leu736=)
c.2184A>G (p.Leu728=)
c.2238A>G (p.Leu746=)
c.942A>G (p.Leu314=)
c.1944A>G (p.Leu648=)
c.918A>G (p.Leu306=)
 gnomAD v4
9g.110800556A>TCA374478469MUSKc.2178A>T (p.Leu726Phe)
c.1920A>T (p.Leu640Phe)
c.2154A>T (p.Leu718Phe)
c.1890A>T (p.Leu630Phe)
c.2208A>T (p.Leu736Phe)
c.2184A>T (p.Leu728Phe)
c.2238A>T (p.Leu746Phe)
c.942A>T (p.Leu314Phe)
c.1944A>T (p.Leu648Phe)
c.918A>T (p.Leu306Phe)
9g.110800557G>ACA374478471MUSKc.2179G>A (p.Ala727Thr)
c.1921G>A (p.Ala641Thr)
c.2155G>A (p.Ala719Thr)
c.1891G>A (p.Ala631Thr)
c.2209G>A (p.Ala737Thr)
c.2185G>A (p.Ala729Thr)
c.2239G>A (p.Ala747Thr)
c.943G>A (p.Ala315Thr)
c.1945G>A (p.Ala649Thr)
c.919G>A (p.Ala307Thr)
9g.110800557G>CCA374478473MUSKc.2179G>C (p.Ala727Pro)
c.1921G>C (p.Ala641Pro)
c.2155G>C (p.Ala719Pro)
c.1891G>C (p.Ala631Pro)
c.2209G>C (p.Ala737Pro)
c.2185G>C (p.Ala729Pro)
c.2239G>C (p.Ala747Pro)
c.943G>C (p.Ala315Pro)
c.1945G>C (p.Ala649Pro)
c.919G>C (p.Ala307Pro)
9g.110800557G>TCA374478475MUSKc.2179G>T (p.Ala727Ser)
c.1921G>T (p.Ala641Ser)
c.2155G>T (p.Ala719Ser)
c.1891G>T (p.Ala631Ser)
c.2209G>T (p.Ala737Ser)
c.2185G>T (p.Ala729Ser)
c.2239G>T (p.Ala747Ser)
c.943G>T (p.Ala315Ser)
c.1945G>T (p.Ala649Ser)
c.919G>T (p.Ala307Ser)
9g.110800558C>ACA374478477MUSKc.2180C>A (p.Ala727Asp)
c.1922C>A (p.Ala641Asp)
c.2156C>A (p.Ala719Asp)
c.1892C>A (p.Ala631Asp)
c.2210C>A (p.Ala737Asp)
c.2186C>A (p.Ala729Asp)
c.2240C>A (p.Ala747Asp)
c.944C>A (p.Ala315Asp)
c.1946C>A (p.Ala649Asp)
c.920C>A (p.Ala307Asp)
 gnomAD v4
9g.110800558C=CA1872205658MUSKc.2180C= (p.Ala727=)
c.1922C= (p.Ala641=)
c.2156C= (p.Ala719=)
c.1892C= (p.Ala631=)
c.2210C= (p.Ala737=)
c.2186C= (p.Ala729=)
c.2240C= (p.Ala747=)
c.944C= (p.Ala315=)
c.1946C= (p.Ala649=)
c.920C= (p.Ala307=)
9g.110800558C>GCA374478479MUSKc.2180C>G (p.Ala727Gly)
c.1922C>G (p.Ala641Gly)
c.2156C>G (p.Ala719Gly)
c.1892C>G (p.Ala631Gly)
c.2210C>G (p.Ala737Gly)
c.2186C>G (p.Ala729Gly)
c.2240C>G (p.Ala747Gly)
c.944C>G (p.Ala315Gly)
c.1946C>G (p.Ala649Gly)
c.920C>G (p.Ala307Gly)
9g.110800558C>TCA249738MUSKc.2180C>T (p.Ala727Val)
c.1922C>T (p.Ala641Val)
c.2156C>T (p.Ala719Val)
c.1892C>T (p.Ala631Val)
c.2210C>T (p.Ala737Val)
c.2186C>T (p.Ala729Val)
c.2240C>T (p.Ala747Val)
c.944C>T (p.Ala315Val)
c.1946C>T (p.Ala649Val)
c.920C>T (p.Ala307Val)
 ClinVar dbSNP
9g.110800559C>ACA466900876MUSKc.2181C>A (p.Ala727=)
c.1923C>A (p.Ala641=)
c.2157C>A (p.Ala719=)
c.1893C>A (p.Ala631=)
c.2211C>A (p.Ala737=)
c.2187C>A (p.Ala729=)
c.2241C>A (p.Ala747=)
c.945C>A (p.Ala315=)
c.1947C>A (p.Ala649=)
c.921C>A (p.Ala307=)
9g.110800559C>GCA466900877MUSKc.2181C>G (p.Ala727=)
c.1923C>G (p.Ala641=)
c.2157C>G (p.Ala719=)
c.1893C>G (p.Ala631=)
c.2211C>G (p.Ala737=)
c.2187C>G (p.Ala729=)
c.2241C>G (p.Ala747=)
c.945C>G (p.Ala315=)
c.1947C>G (p.Ala649=)
c.921C>G (p.Ala307=)
9g.110800559C>TCA466900878MUSKc.2181C>T (p.Ala727=)
c.1923C>T (p.Ala641=)
c.2157C>T (p.Ala719=)
c.1893C>T (p.Ala631=)
c.2211C>T (p.Ala737=)
c.2187C>T (p.Ala729=)
c.2241C>T (p.Ala747=)
c.945C>T (p.Ala315=)
c.1947C>T (p.Ala649=)
c.921C>T (p.Ala307=)
9g.110800560A>CCA374478483MUSKc.2182A>C (p.Thr728Pro)
c.1924A>C (p.Thr642Pro)
c.2158A>C (p.Thr720Pro)
c.1894A>C (p.Thr632Pro)
c.2212A>C (p.Thr738Pro)
c.2188A>C (p.Thr730Pro)
c.2242A>C (p.Thr748Pro)
c.946A>C (p.Thr316Pro)
c.1948A>C (p.Thr650Pro)
c.922A>C (p.Thr308Pro)
9g.110800560A>GCA374478484MUSKc.2182A>G (p.Thr728Ala)
c.1924A>G (p.Thr642Ala)
c.2158A>G (p.Thr720Ala)
c.1894A>G (p.Thr632Ala)
c.2212A>G (p.Thr738Ala)
c.2188A>G (p.Thr730Ala)
c.2242A>G (p.Thr748Ala)
c.946A>G (p.Thr316Ala)
c.1948A>G (p.Thr650Ala)
c.922A>G (p.Thr308Ala)
9g.110800560A>TCA374478482MUSKc.2182A>T (p.Thr728Ser)
c.1924A>T (p.Thr642Ser)
c.2158A>T (p.Thr720Ser)
c.1894A>T (p.Thr632Ser)
c.2212A>T (p.Thr738Ser)
c.2188A>T (p.Thr730Ser)
c.2242A>T (p.Thr748Ser)
c.946A>T (p.Thr316Ser)
c.1948A>T (p.Thr650Ser)
c.922A>T (p.Thr308Ser)
9g.110800561C>ACA374478485MUSKc.2183C>A (p.Thr728Asn)
c.1925C>A (p.Thr642Asn)
c.2159C>A (p.Thr720Asn)
c.1895C>A (p.Thr632Asn)
c.2213C>A (p.Thr738Asn)
c.2189C>A (p.Thr730Asn)
c.2243C>A (p.Thr748Asn)
c.947C>A (p.Thr316Asn)
c.1949C>A (p.Thr650Asn)
c.923C>A (p.Thr308Asn)
9g.110800561C>GCA374478487MUSKc.2183C>G (p.Thr728Ser)
c.1925C>G (p.Thr642Ser)
c.2159C>G (p.Thr720Ser)
c.1895C>G (p.Thr632Ser)
c.2213C>G (p.Thr738Ser)
c.2189C>G (p.Thr730Ser)
c.2243C>G (p.Thr748Ser)
c.947C>G (p.Thr316Ser)
c.1949C>G (p.Thr650Ser)
c.923C>G (p.Thr308Ser)
9g.110800561C>TCA374478488MUSKc.2183C>T (p.Thr728Ile)
c.1925C>T (p.Thr642Ile)
c.2159C>T (p.Thr720Ile)
c.1895C>T (p.Thr632Ile)
c.2213C>T (p.Thr738Ile)
c.2189C>T (p.Thr730Ile)
c.2243C>T (p.Thr748Ile)
c.947C>T (p.Thr316Ile)
c.1949C>T (p.Thr650Ile)
c.923C>T (p.Thr308Ile)
 gnomAD v4
9g.110800562C>ACA198363545MUSKc.2184C>A (p.Thr728=)
c.1926C>A (p.Thr642=)
c.2160C>A (p.Thr720=)
c.1896C>A (p.Thr632=)
c.2214C>A (p.Thr738=)
c.2190C>A (p.Thr730=)
c.2244C>A (p.Thr748=)
c.948C>A (p.Thr316=)
c.1950C>A (p.Thr650=)
c.924C>A (p.Thr308=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.110800562C=CA1872205659MUSKc.2184C= (p.Thr728=)
c.1926C= (p.Thr642=)
c.2160C= (p.Thr720=)
c.1896C= (p.Thr632=)
c.2214C= (p.Thr738=)
c.2190C= (p.Thr730=)
c.2244C= (p.Thr748=)
c.948C= (p.Thr316=)
c.1950C= (p.Thr650=)
c.924C= (p.Thr308=)
9g.110800562C>GCA466900879MUSKc.2184C>G (p.Thr728=)
c.1926C>G (p.Thr642=)
c.2160C>G (p.Thr720=)
c.1896C>G (p.Thr632=)
c.2214C>G (p.Thr738=)
c.2190C>G (p.Thr730=)
c.2244C>G (p.Thr748=)
c.948C>G (p.Thr316=)
c.1950C>G (p.Thr650=)
c.924C>G (p.Thr308=)
9g.110800562C>TCA466900880MUSKc.2184C>T (p.Thr728=)
c.1926C>T (p.Thr642=)
c.2160C>T (p.Thr720=)
c.1896C>T (p.Thr632=)
c.2214C>T (p.Thr738=)
c.2190C>T (p.Thr730=)
c.2244C>T (p.Thr748=)
c.948C>T (p.Thr316=)
c.1950C>T (p.Thr650=)
c.924C>T (p.Thr308=)
9g.110800563A>CCA466900881MUSKc.2185A>C (p.Arg729=)
c.1927A>C (p.Arg643=)
c.2161A>C (p.Arg721=)
c.1897A>C (p.Arg633=)
c.2215A>C (p.Arg739=)
c.2191A>C (p.Arg731=)
c.2245A>C (p.Arg749=)
c.949A>C (p.Arg317=)
c.1951A>C (p.Arg651=)
c.925A>C (p.Arg309=)
9g.110800563A>GCA374478491MUSKc.2185A>G (p.Arg729Gly)
c.1927A>G (p.Arg643Gly)
c.2161A>G (p.Arg721Gly)
c.1897A>G (p.Arg633Gly)
c.2215A>G (p.Arg739Gly)
c.2191A>G (p.Arg731Gly)
c.2245A>G (p.Arg749Gly)
c.949A>G (p.Arg317Gly)
c.1951A>G (p.Arg651Gly)
c.925A>G (p.Arg309Gly)
9g.110800563A>TCA374478494MUSKc.2185A>T (p.Arg729Trp)
c.1927A>T (p.Arg643Trp)
c.2161A>T (p.Arg721Trp)
c.1897A>T (p.Arg633Trp)
c.2215A>T (p.Arg739Trp)
c.2191A>T (p.Arg731Trp)
c.2245A>T (p.Arg749Trp)
c.949A>T (p.Arg317Trp)
c.1951A>T (p.Arg651Trp)
c.925A>T (p.Arg309Trp)
9g.110800564G>ACA374478501MUSKc.2186G>A (p.Arg729Lys)
c.1928G>A (p.Arg643Lys)
c.2162G>A (p.Arg721Lys)
c.1898G>A (p.Arg633Lys)
c.2216G>A (p.Arg739Lys)
c.2192G>A (p.Arg731Lys)
c.2246G>A (p.Arg749Lys)
c.950G>A (p.Arg317Lys)
c.1952G>A (p.Arg651Lys)
c.926G>A (p.Arg309Lys)
9g.110800564G>CCA374478497MUSKc.2186G>C (p.Arg729Thr)
c.1928G>C (p.Arg643Thr)
c.2162G>C (p.Arg721Thr)
c.1898G>C (p.Arg633Thr)
c.2216G>C (p.Arg739Thr)
c.2192G>C (p.Arg731Thr)
c.2246G>C (p.Arg749Thr)
c.950G>C (p.Arg317Thr)
c.1952G>C (p.Arg651Thr)
c.926G>C (p.Arg309Thr)
9g.110800564G>TCA374478500MUSKc.2186G>T (p.Arg729Met)
c.1928G>T (p.Arg643Met)
c.2162G>T (p.Arg721Met)
c.1898G>T (p.Arg633Met)
c.2216G>T (p.Arg739Met)
c.2192G>T (p.Arg731Met)
c.2246G>T (p.Arg749Met)
c.950G>T (p.Arg317Met)
c.1952G>T (p.Arg651Met)
c.926G>T (p.Arg309Met)
9g.110800565delCA2785557021MUSKc.2187del (p.Asn730ThrfsTer10)
c.1929del (p.Asn644ThrfsTer10)
c.2163del (p.Asn722ThrfsTer10)
c.1899del (p.Asn634ThrfsTer10)
c.2217del (p.Asn740ThrfsTer10)
c.2193del (p.Asn732ThrfsTer10)
c.2247del (p.Asn750ThrfsTer10)
c.951del (p.Asn318ThrfsTer10)
c.1953del (p.Asn652ThrfsTer10)
c.927del (p.Asn310ThrfsTer10)
9g.110800565G>ACA466900882MUSKc.2187G>A (p.Arg729=)
c.1929G>A (p.Arg643=)
c.2163G>A (p.Arg721=)
c.1899G>A (p.Arg633=)
c.2217G>A (p.Arg739=)
c.2193G>A (p.Arg731=)
c.2247G>A (p.Arg749=)
c.951G>A (p.Arg317=)
c.1953G>A (p.Arg651=)
c.927G>A (p.Arg309=)
9g.110800565G>CCA374478504MUSKc.2187G>C (p.Arg729Ser)
c.1929G>C (p.Arg643Ser)
c.2163G>C (p.Arg721Ser)
c.1899G>C (p.Arg633Ser)
c.2217G>C (p.Arg739Ser)
c.2193G>C (p.Arg731Ser)
c.2247G>C (p.Arg749Ser)
c.951G>C (p.Arg317Ser)
c.1953G>C (p.Arg651Ser)
c.927G>C (p.Arg309Ser)
 gnomAD v4
9g.110800565G>TCA374478505MUSKc.2187G>T (p.Arg729Ser)
c.1929G>T (p.Arg643Ser)
c.2163G>T (p.Arg721Ser)
c.1899G>T (p.Arg633Ser)
c.2217G>T (p.Arg739Ser)
c.2193G>T (p.Arg731Ser)
c.2247G>T (p.Arg749Ser)
c.951G>T (p.Arg317Ser)
c.1953G>T (p.Arg651Ser)
c.927G>T (p.Arg309Ser)
9g.110800566A>CCA374478506MUSKc.2188A>C (p.Asn730His)
c.1930A>C (p.Asn644His)
c.2164A>C (p.Asn722His)
c.1900A>C (p.Asn634His)
c.2218A>C (p.Asn740His)
c.2194A>C (p.Asn732His)
c.2248A>C (p.Asn750His)
c.952A>C (p.Asn318His)
c.1954A>C (p.Asn652His)
c.928A>C (p.Asn310His)
9g.110800566A>GCA374478507MUSKc.2188A>G (p.Asn730Asp)
c.1930A>G (p.Asn644Asp)
c.2164A>G (p.Asn722Asp)
c.1900A>G (p.Asn634Asp)
c.2218A>G (p.Asn740Asp)
c.2194A>G (p.Asn732Asp)
c.2248A>G (p.Asn750Asp)
c.952A>G (p.Asn318Asp)
c.1954A>G (p.Asn652Asp)
c.928A>G (p.Asn310Asp)
9g.110800566A>TCA374478508MUSKc.2188A>T (p.Asn730Tyr)
c.1930A>T (p.Asn644Tyr)
c.2164A>T (p.Asn722Tyr)
c.1900A>T (p.Asn634Tyr)
c.2218A>T (p.Asn740Tyr)
c.2194A>T (p.Asn732Tyr)
c.2248A>T (p.Asn750Tyr)
c.952A>T (p.Asn318Tyr)
c.1954A>T (p.Asn652Tyr)
c.928A>T (p.Asn310Tyr)
9g.110800567A>CCA374478511MUSKc.2189A>C (p.Asn730Thr)
c.1931A>C (p.Asn644Thr)
c.2165A>C (p.Asn722Thr)
c.1901A>C (p.Asn634Thr)
c.2219A>C (p.Asn740Thr)
c.2195A>C (p.Asn732Thr)
c.2249A>C (p.Asn750Thr)
c.953A>C (p.Asn318Thr)
c.1955A>C (p.Asn652Thr)
c.929A>C (p.Asn310Thr)
9g.110800567A>GCA374478515MUSKc.2189A>G (p.Asn730Ser)
c.1931A>G (p.Asn644Ser)
c.2165A>G (p.Asn722Ser)
c.1901A>G (p.Asn634Ser)
c.2219A>G (p.Asn740Ser)
c.2195A>G (p.Asn732Ser)
c.2249A>G (p.Asn750Ser)
c.953A>G (p.Asn318Ser)
c.1955A>G (p.Asn652Ser)
c.929A>G (p.Asn310Ser)
 gnomAD v4
9g.110800567A>TCA374478512MUSKc.2189A>T (p.Asn730Ile)
c.1931A>T (p.Asn644Ile)
c.2165A>T (p.Asn722Ile)
c.1901A>T (p.Asn634Ile)
c.2219A>T (p.Asn740Ile)
c.2195A>T (p.Asn732Ile)
c.2249A>T (p.Asn750Ile)
c.953A>T (p.Asn318Ile)
c.1955A>T (p.Asn652Ile)
c.929A>T (p.Asn310Ile)
9g.110800568C>ACA374478521MUSKc.2190C>A (p.Asn730Lys)
c.1932C>A (p.Asn644Lys)
c.2166C>A (p.Asn722Lys)
c.1902C>A (p.Asn634Lys)
c.2220C>A (p.Asn740Lys)
c.2196C>A (p.Asn732Lys)
c.2250C>A (p.Asn750Lys)
c.954C>A (p.Asn318Lys)
c.1956C>A (p.Asn652Lys)
c.930C>A (p.Asn310Lys)
9g.110800568C>GCA374478523MUSKc.2190C>G (p.Asn730Lys)
c.1932C>G (p.Asn644Lys)
c.2166C>G (p.Asn722Lys)
c.1902C>G (p.Asn634Lys)
c.2220C>G (p.Asn740Lys)
c.2196C>G (p.Asn732Lys)
c.2250C>G (p.Asn750Lys)
c.954C>G (p.Asn318Lys)
c.1956C>G (p.Asn652Lys)
c.930C>G (p.Asn310Lys)
9g.110800568C>TCA466900883MUSKc.2190C>T (p.Asn730=)
c.1932C>T (p.Asn644=)
c.2166C>T (p.Asn722=)
c.1902C>T (p.Asn634=)
c.2220C>T (p.Asn740=)
c.2196C>T (p.Asn732=)
c.2250C>T (p.Asn750=)
c.954C>T (p.Asn318=)
c.1956C>T (p.Asn652=)
c.930C>T (p.Asn310=)
9g.110800569T>ACA374478525MUSKc.2191T>A (p.Cys731Ser)
c.1933T>A (p.Cys645Ser)
c.2167T>A (p.Cys723Ser)
c.1903T>A (p.Cys635Ser)
c.2221T>A (p.Cys741Ser)
c.2197T>A (p.Cys733Ser)
c.2251T>A (p.Cys751Ser)
c.955T>A (p.Cys319Ser)
c.1957T>A (p.Cys653Ser)
c.931T>A (p.Cys311Ser)
9g.110800569T>CCA374478527MUSKc.2191T>C (p.Cys731Arg)
c.1933T>C (p.Cys645Arg)
c.2167T>C (p.Cys723Arg)
c.1903T>C (p.Cys635Arg)
c.2221T>C (p.Cys741Arg)
c.2197T>C (p.Cys733Arg)
c.2251T>C (p.Cys751Arg)
c.955T>C (p.Cys319Arg)
c.1957T>C (p.Cys653Arg)
c.931T>C (p.Cys311Arg)
9g.110800569T>GCA374478530MUSKc.2191T>G (p.Cys731Gly)
c.1933T>G (p.Cys645Gly)
c.2167T>G (p.Cys723Gly)
c.1903T>G (p.Cys635Gly)
c.2221T>G (p.Cys741Gly)
c.2197T>G (p.Cys733Gly)
c.2251T>G (p.Cys751Gly)
c.955T>G (p.Cys319Gly)
c.1957T>G (p.Cys653Gly)
c.931T>G (p.Cys311Gly)
9g.110800570delCA2740095564MUSKc.2192del (p.Cys731SerfsTer9)
c.1934del (p.Cys645SerfsTer9)
c.2168del (p.Cys723SerfsTer9)
c.1904del (p.Cys635SerfsTer9)
c.2222del (p.Cys741SerfsTer9)
c.2198del (p.Cys733SerfsTer9)
c.2252del (p.Cys751SerfsTer9)
c.956del (p.Cys319SerfsTer9)
c.1958del (p.Cys653SerfsTer9)
c.932del (p.Cys311SerfsTer9)
 ClinVar
9g.110800570G>ACA374478532MUSKc.2192G>A (p.Cys731Tyr)
c.1934G>A (p.Cys645Tyr)
c.2168G>A (p.Cys723Tyr)
c.1904G>A (p.Cys635Tyr)
c.2222G>A (p.Cys741Tyr)
c.2198G>A (p.Cys733Tyr)
c.2252G>A (p.Cys751Tyr)
c.956G>A (p.Cys319Tyr)
c.1958G>A (p.Cys653Tyr)
c.932G>A (p.Cys311Tyr)
9g.110800570G>CCA374478534MUSKc.2192G>C (p.Cys731Ser)
c.1934G>C (p.Cys645Ser)
c.2168G>C (p.Cys723Ser)
c.1904G>C (p.Cys635Ser)
c.2222G>C (p.Cys741Ser)
c.2198G>C (p.Cys733Ser)
c.2252G>C (p.Cys751Ser)
c.956G>C (p.Cys319Ser)
c.1958G>C (p.Cys653Ser)
c.932G>C (p.Cys311Ser)
9g.110800570G>TCA374478535MUSKc.2192G>T (p.Cys731Phe)
c.1934G>T (p.Cys645Phe)
c.2168G>T (p.Cys723Phe)
c.1904G>T (p.Cys635Phe)
c.2222G>T (p.Cys741Phe)
c.2198G>T (p.Cys733Phe)
c.2252G>T (p.Cys751Phe)
c.956G>T (p.Cys319Phe)
c.1958G>T (p.Cys653Phe)
c.932G>T (p.Cys311Phe)
9g.110800571C>ACA374478537MUSKc.2193C>A (p.Cys731Ter)
c.1935C>A (p.Cys645Ter)
c.2169C>A (p.Cys723Ter)
c.1905C>A (p.Cys635Ter)
c.2223C>A (p.Cys741Ter)
c.2199C>A (p.Cys733Ter)
c.2253C>A (p.Cys751Ter)
c.957C>A (p.Cys319Ter)
c.1959C>A (p.Cys653Ter)
c.933C>A (p.Cys311Ter)
9g.110800571C>GCA374478538MUSKc.2193C>G (p.Cys731Trp)
c.1935C>G (p.Cys645Trp)
c.2169C>G (p.Cys723Trp)
c.1905C>G (p.Cys635Trp)
c.2223C>G (p.Cys741Trp)
c.2199C>G (p.Cys733Trp)
c.2253C>G (p.Cys751Trp)
c.957C>G (p.Cys319Trp)
c.1959C>G (p.Cys653Trp)
c.933C>G (p.Cys311Trp)
9g.110800571C>TCA466900884MUSKc.2193C>T (p.Cys731=)
c.1935C>T (p.Cys645=)
c.2169C>T (p.Cys723=)
c.1905C>T (p.Cys635=)
c.2223C>T (p.Cys741=)
c.2199C>T (p.Cys733=)
c.2253C>T (p.Cys751=)
c.957C>T (p.Cys319=)
c.1959C>T (p.Cys653=)
c.933C>T (p.Cys311=)
 COSMIC COSMIC
9g.110800572C>ACA374478539MUSKc.2194C>A (p.Leu732Met)
c.1936C>A (p.Leu646Met)
c.2170C>A (p.Leu724Met)
c.1906C>A (p.Leu636Met)
c.2224C>A (p.Leu742Met)
c.2200C>A (p.Leu734Met)
c.2254C>A (p.Leu752Met)
c.958C>A (p.Leu320Met)
c.1960C>A (p.Leu654Met)
c.934C>A (p.Leu312Met)
9g.110800572C=CA1872205660MUSKc.2194C= (p.Leu732=)
c.1936C= (p.Leu646=)
c.2170C= (p.Leu724=)
c.1906C= (p.Leu636=)
c.2224C= (p.Leu742=)
c.2200C= (p.Leu734=)
c.2254C= (p.Leu752=)
c.958C= (p.Leu320=)
c.1960C= (p.Leu654=)
c.934C= (p.Leu312=)
9g.110800572C>GCA374478540MUSKc.2194C>G (p.Leu732Val)
c.1936C>G (p.Leu646Val)
c.2170C>G (p.Leu724Val)
c.1906C>G (p.Leu636Val)
c.2224C>G (p.Leu742Val)
c.2200C>G (p.Leu734Val)
c.2254C>G (p.Leu752Val)
c.958C>G (p.Leu320Val)
c.1960C>G (p.Leu654Val)
c.934C>G (p.Leu312Val)
9g.110800572C>TCA466900885MUSKc.2194C>T (p.Leu732=)
c.1936C>T (p.Leu646=)
c.2170C>T (p.Leu724=)
c.1906C>T (p.Leu636=)
c.2224C>T (p.Leu742=)
c.2200C>T (p.Leu734=)
c.2254C>T (p.Leu752=)
c.958C>T (p.Leu320=)
c.1960C>T (p.Leu654=)
c.934C>T (p.Leu312=)
 dbSNP gnomAD v3 gnomAD v4
9g.110800573T>ACA374478543MUSKc.2195T>A (p.Leu732Gln)
c.1937T>A (p.Leu646Gln)
c.2171T>A (p.Leu724Gln)
c.1907T>A (p.Leu636Gln)
c.2225T>A (p.Leu742Gln)
c.2201T>A (p.Leu734Gln)
c.2255T>A (p.Leu752Gln)
c.959T>A (p.Leu320Gln)
c.1961T>A (p.Leu654Gln)
c.935T>A (p.Leu312Gln)
9g.110800573T>CCA374478545MUSKc.2195T>C (p.Leu732Pro)
c.1937T>C (p.Leu646Pro)
c.2171T>C (p.Leu724Pro)
c.1907T>C (p.Leu636Pro)
c.2225T>C (p.Leu742Pro)
c.2201T>C (p.Leu734Pro)
c.2255T>C (p.Leu752Pro)
c.959T>C (p.Leu320Pro)
c.1961T>C (p.Leu654Pro)
c.935T>C (p.Leu312Pro)
9g.110800573T>GCA374478549MUSKc.2195T>G (p.Leu732Arg)
c.1937T>G (p.Leu646Arg)
c.2171T>G (p.Leu724Arg)
c.1907T>G (p.Leu636Arg)
c.2225T>G (p.Leu742Arg)
c.2201T>G (p.Leu734Arg)
c.2255T>G (p.Leu752Arg)
c.959T>G (p.Leu320Arg)
c.1961T>G (p.Leu654Arg)
c.935T>G (p.Leu312Arg)
9g.110800574G>ACA466900886MUSKc.2196G>A (p.Leu732=)
c.1938G>A (p.Leu646=)
c.2172G>A (p.Leu724=)
c.1908G>A (p.Leu636=)
c.2226G>A (p.Leu742=)
c.2202G>A (p.Leu734=)
c.2256G>A (p.Leu752=)
c.960G>A (p.Leu320=)
c.1962G>A (p.Leu654=)
c.936G>A (p.Leu312=)
 ClinVar dbSNP gnomAD v4
9g.110800574G>CCA466900887MUSKc.2196G>C (p.Leu732=)
c.1938G>C (p.Leu646=)
c.2172G>C (p.Leu724=)
c.1908G>C (p.Leu636=)
c.2226G>C (p.Leu742=)
c.2202G>C (p.Leu734=)
c.2256G>C (p.Leu752=)
c.960G>C (p.Leu320=)
c.1962G>C (p.Leu654=)
c.936G>C (p.Leu312=)
9g.110800574G=CA1872205661MUSKc.2196G= (p.Leu732=)
c.1938G= (p.Leu646=)
c.2172G= (p.Leu724=)
c.1908G= (p.Leu636=)
c.2226G= (p.Leu742=)
c.2202G= (p.Leu734=)
c.2256G= (p.Leu752=)
c.960G= (p.Leu320=)
c.1962G= (p.Leu654=)
c.936G= (p.Leu312=)
9g.110800574G>TCA466900888MUSKc.2196G>T (p.Leu732=)
c.1938G>T (p.Leu646=)
c.2172G>T (p.Leu724=)
c.1908G>T (p.Leu636=)
c.2226G>T (p.Leu742=)
c.2202G>T (p.Leu734=)
c.2256G>T (p.Leu752=)
c.960G>T (p.Leu320=)
c.1962G>T (p.Leu654=)
c.936G>T (p.Leu312=)
9g.110800575G>ACA374478552MUSKc.2197G>A (p.Val733Met)
c.1939G>A (p.Val647Met)
c.2173G>A (p.Val725Met)
c.1909G>A (p.Val637Met)
c.2227G>A (p.Val743Met)
c.2203G>A (p.Val735Met)
c.2257G>A (p.Val753Met)
c.961G>A (p.Val321Met)
c.1963G>A (p.Val655Met)
c.937G>A (p.Val313Met)
9g.110800575G>CCA374478559MUSKc.2197G>C (p.Val733Leu)
c.1939G>C (p.Val647Leu)
c.2173G>C (p.Val725Leu)
c.1909G>C (p.Val637Leu)
c.2227G>C (p.Val743Leu)
c.2203G>C (p.Val735Leu)
c.2257G>C (p.Val753Leu)
c.961G>C (p.Val321Leu)
c.1963G>C (p.Val655Leu)
c.937G>C (p.Val313Leu)
9g.110800575G>TCA374478556MUSKc.2197G>T (p.Val733Leu)
c.1939G>T (p.Val647Leu)
c.2173G>T (p.Val725Leu)
c.1909G>T (p.Val637Leu)
c.2227G>T (p.Val743Leu)
c.2203G>T (p.Val735Leu)
c.2257G>T (p.Val753Leu)
c.961G>T (p.Val321Leu)
c.1963G>T (p.Val655Leu)
c.937G>T (p.Val313Leu)
9g.110800576T>ACA374478563MUSKc.2198T>A (p.Val733Glu)
c.1940T>A (p.Val647Glu)
c.2174T>A (p.Val725Glu)
c.1910T>A (p.Val637Glu)
c.2228T>A (p.Val743Glu)
c.2204T>A (p.Val735Glu)
c.2258T>A (p.Val753Glu)
c.962T>A (p.Val321Glu)
c.1964T>A (p.Val655Glu)
c.938T>A (p.Val313Glu)
9g.110800576T>CCA374478565MUSKc.2198T>C (p.Val733Ala)
c.1940T>C (p.Val647Ala)
c.2174T>C (p.Val725Ala)
c.1910T>C (p.Val637Ala)
c.2228T>C (p.Val743Ala)
c.2204T>C (p.Val735Ala)
c.2258T>C (p.Val753Ala)
c.962T>C (p.Val321Ala)
c.1964T>C (p.Val655Ala)
c.938T>C (p.Val313Ala)
 dbSNP gnomAD v2
9g.110800576T>GCA374478568MUSKc.2198T>G (p.Val733Gly)
c.1940T>G (p.Val647Gly)
c.2174T>G (p.Val725Gly)
c.1910T>G (p.Val637Gly)
c.2228T>G (p.Val743Gly)
c.2204T>G (p.Val735Gly)
c.2258T>G (p.Val753Gly)
c.962T>G (p.Val321Gly)
c.1964T>G (p.Val655Gly)
c.938T>G (p.Val313Gly)
9g.110800576T=CA1872205662MUSKc.2198T= (p.Val733=)
c.1940T= (p.Val647=)
c.2174T= (p.Val725=)
c.1910T= (p.Val637=)
c.2228T= (p.Val743=)
c.2204T= (p.Val735=)
c.2258T= (p.Val753=)
c.962T= (p.Val321=)
c.1964T= (p.Val655=)
c.938T= (p.Val313=)
9g.110800577G>ACA466900889MUSKc.2199G>A (p.Val733=)
c.1941G>A (p.Val647=)
c.2175G>A (p.Val725=)
c.1911G>A (p.Val637=)
c.2229G>A (p.Val743=)
c.2205G>A (p.Val735=)
c.2259G>A (p.Val753=)
c.963G>A (p.Val321=)
c.1965G>A (p.Val655=)
c.939G>A (p.Val313=)
 dbSNP
9g.110800577G>CCA466900890MUSKc.2199G>C (p.Val733=)
c.1941G>C (p.Val647=)
c.2175G>C (p.Val725=)
c.1911G>C (p.Val637=)
c.2229G>C (p.Val743=)
c.2205G>C (p.Val735=)
c.2259G>C (p.Val753=)
c.963G>C (p.Val321=)
c.1965G>C (p.Val655=)
c.939G>C (p.Val313=)
9g.110800577G>TCA466900891MUSKc.2199G>T (p.Val733=)
c.1941G>T (p.Val647=)
c.2175G>T (p.Val725=)
c.1911G>T (p.Val637=)
c.2229G>T (p.Val743=)
c.2205G>T (p.Val735=)
c.2259G>T (p.Val753=)
c.963G>T (p.Val321=)
c.1965G>T (p.Val655=)
c.939G>T (p.Val313=)
9g.110800579delCA2579417165MUSKc.2201del (p.Gly734AlafsTer6)
c.1943del (p.Gly648AlafsTer6)
c.2177del (p.Gly726AlafsTer6)
c.1913del (p.Gly638AlafsTer6)
c.2231del (p.Gly744AlafsTer6)
c.2207del (p.Gly736AlafsTer6)
c.2261del (p.Gly754AlafsTer6)
c.965del (p.Gly322AlafsTer6)
c.1967del (p.Gly656AlafsTer6)
c.941del (p.Gly314AlafsTer6)
9g.110800578G>ACA5184581MUSKc.2200G>A (p.Gly734Ser)
c.1942G>A (p.Gly648Ser)
c.2176G>A (p.Gly726Ser)
c.1912G>A (p.Gly638Ser)
c.2230G>A (p.Gly744Ser)
c.2206G>A (p.Gly736Ser)
c.2260G>A (p.Gly754Ser)
c.964G>A (p.Gly322Ser)
c.1966G>A (p.Gly656Ser)
c.940G>A (p.Gly314Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800578G>CCA374478573MUSKc.2200G>C (p.Gly734Arg)
c.1942G>C (p.Gly648Arg)
c.2176G>C (p.Gly726Arg)
c.1912G>C (p.Gly638Arg)
c.2230G>C (p.Gly744Arg)
c.2206G>C (p.Gly736Arg)
c.2260G>C (p.Gly754Arg)
c.964G>C (p.Gly322Arg)
c.1966G>C (p.Gly656Arg)
c.940G>C (p.Gly314Arg)
9g.110800578G=CA1872205663MUSKc.2200G= (p.Gly734=)
c.1942G= (p.Gly648=)
c.2176G= (p.Gly726=)
c.1912G= (p.Gly638=)
c.2230G= (p.Gly744=)
c.2206G= (p.Gly736=)
c.2260G= (p.Gly754=)
c.964G= (p.Gly322=)
c.1966G= (p.Gly656=)
c.940G= (p.Gly314=)
9g.110800578G>TCA374478576MUSKc.2200G>T (p.Gly734Cys)
c.1942G>T (p.Gly648Cys)
c.2176G>T (p.Gly726Cys)
c.1912G>T (p.Gly638Cys)
c.2230G>T (p.Gly744Cys)
c.2206G>T (p.Gly736Cys)
c.2260G>T (p.Gly754Cys)
c.964G>T (p.Gly322Cys)
c.1966G>T (p.Gly656Cys)
c.940G>T (p.Gly314Cys)
9g.110800579G>ACA374478578MUSKc.2201G>A (p.Gly734Asp)
c.1943G>A (p.Gly648Asp)
c.2177G>A (p.Gly726Asp)
c.1913G>A (p.Gly638Asp)
c.2231G>A (p.Gly744Asp)
c.2207G>A (p.Gly736Asp)
c.2261G>A (p.Gly754Asp)
c.965G>A (p.Gly322Asp)
c.1967G>A (p.Gly656Asp)
c.941G>A (p.Gly314Asp)
9g.110800579G>CCA374478579MUSKc.2201G>C (p.Gly734Ala)
c.1943G>C (p.Gly648Ala)
c.2177G>C (p.Gly726Ala)
c.1913G>C (p.Gly638Ala)
c.2231G>C (p.Gly744Ala)
c.2207G>C (p.Gly736Ala)
c.2261G>C (p.Gly754Ala)
c.965G>C (p.Gly322Ala)
c.1967G>C (p.Gly656Ala)
c.941G>C (p.Gly314Ala)
9g.110800579G=CA1872205664MUSKc.2201G= (p.Gly734=)
c.1943G= (p.Gly648=)
c.2177G= (p.Gly726=)
c.1913G= (p.Gly638=)
c.2231G= (p.Gly744=)
c.2207G= (p.Gly736=)
c.2261G= (p.Gly754=)
c.965G= (p.Gly322=)
c.1967G= (p.Gly656=)
c.941G= (p.Gly314=)
9g.110800579G>TCA198363553MUSKc.2201G>T (p.Gly734Val)
c.1943G>T (p.Gly648Val)
c.2177G>T (p.Gly726Val)
c.1913G>T (p.Gly638Val)
c.2231G>T (p.Gly744Val)
c.2207G>T (p.Gly736Val)
c.2261G>T (p.Gly754Val)
c.965G>T (p.Gly322Val)
c.1967G>T (p.Gly656Val)
c.941G>T (p.Gly314Val)
 dbSNP gnomAD v4
9g.110800580C>ACA466900892MUSKc.2202C>A (p.Gly734=)
c.1944C>A (p.Gly648=)
c.2178C>A (p.Gly726=)
c.1914C>A (p.Gly638=)
c.2232C>A (p.Gly744=)
c.2208C>A (p.Gly736=)
c.2262C>A (p.Gly754=)
c.966C>A (p.Gly322=)
c.1968C>A (p.Gly656=)
c.942C>A (p.Gly314=)
9g.110800580C=CA1872205665MUSKc.2202C= (p.Gly734=)
c.1944C= (p.Gly648=)
c.2178C= (p.Gly726=)
c.1914C= (p.Gly638=)
c.2232C= (p.Gly744=)
c.2208C= (p.Gly736=)
c.2262C= (p.Gly754=)
c.966C= (p.Gly322=)
c.1968C= (p.Gly656=)
c.942C= (p.Gly314=)
9g.110800580C>GCA466900893MUSKc.2202C>G (p.Gly734=)
c.1944C>G (p.Gly648=)
c.2178C>G (p.Gly726=)
c.1914C>G (p.Gly638=)
c.2232C>G (p.Gly744=)
c.2208C>G (p.Gly736=)
c.2262C>G (p.Gly754=)
c.966C>G (p.Gly322=)
c.1968C>G (p.Gly656=)
c.942C>G (p.Gly314=)
9g.110800580C>TCA153737MUSKc.2202C>T (p.Gly734=)
c.1944C>T (p.Gly648=)
c.2178C>T (p.Gly726=)
c.1914C>T (p.Gly638=)
c.2232C>T (p.Gly744=)
c.2208C>T (p.Gly736=)
c.2262C>T (p.Gly754=)
c.966C>T (p.Gly322=)
c.1968C>T (p.Gly656=)
c.942C>T (p.Gly314=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800581G>ACA5184582MUSKc.2203G>A (p.Glu735Lys)
c.1945G>A (p.Glu649Lys)
c.2179G>A (p.Glu727Lys)
c.1915G>A (p.Glu639Lys)
c.2233G>A (p.Glu745Lys)
c.2209G>A (p.Glu737Lys)
c.2263G>A (p.Glu755Lys)
c.967G>A (p.Glu323Lys)
c.1969G>A (p.Glu657Lys)
c.943G>A (p.Glu315Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800581G>CCA374478582MUSKc.2203G>C (p.Glu735Gln)
c.1945G>C (p.Glu649Gln)
c.2179G>C (p.Glu727Gln)
c.1915G>C (p.Glu639Gln)
c.2233G>C (p.Glu745Gln)
c.2209G>C (p.Glu737Gln)
c.2263G>C (p.Glu755Gln)
c.967G>C (p.Glu323Gln)
c.1969G>C (p.Glu657Gln)
c.943G>C (p.Glu315Gln)
9g.110800581G=CA1872205666MUSKc.2203G= (p.Glu735=)
c.1945G= (p.Glu649=)
c.2179G= (p.Glu727=)
c.1915G= (p.Glu639=)
c.2233G= (p.Glu745=)
c.2209G= (p.Glu737=)
c.2263G= (p.Glu755=)
c.967G= (p.Glu323=)
c.1969G= (p.Glu657=)
c.943G= (p.Glu315=)
9g.110800581G>TCA374478580MUSKc.2203G>T (p.Glu735Ter)
c.1945G>T (p.Glu649Ter)
c.2179G>T (p.Glu727Ter)
c.1915G>T (p.Glu639Ter)
c.2233G>T (p.Glu745Ter)
c.2209G>T (p.Glu737Ter)
c.2263G>T (p.Glu755Ter)
c.967G>T (p.Glu323Ter)
c.1969G>T (p.Glu657Ter)
c.943G>T (p.Glu315Ter)
9g.110800582A>CCA374478584MUSKc.2204A>C (p.Glu735Ala)
c.1946A>C (p.Glu649Ala)
c.2180A>C (p.Glu727Ala)
c.1916A>C (p.Glu639Ala)
c.2234A>C (p.Glu745Ala)
c.2210A>C (p.Glu737Ala)
c.2264A>C (p.Glu755Ala)
c.968A>C (p.Glu323Ala)
c.1970A>C (p.Glu657Ala)
c.944A>C (p.Glu315Ala)
9g.110800582A>GCA374478586MUSKc.2204A>G (p.Glu735Gly)
c.1946A>G (p.Glu649Gly)
c.2180A>G (p.Glu727Gly)
c.1916A>G (p.Glu639Gly)
c.2234A>G (p.Glu745Gly)
c.2210A>G (p.Glu737Gly)
c.2264A>G (p.Glu755Gly)
c.968A>G (p.Glu323Gly)
c.1970A>G (p.Glu657Gly)
c.944A>G (p.Glu315Gly)
9g.110800582A>TCA374478588MUSKc.2204A>T (p.Glu735Val)
c.1946A>T (p.Glu649Val)
c.2180A>T (p.Glu727Val)
c.1916A>T (p.Glu639Val)
c.2234A>T (p.Glu745Val)
c.2210A>T (p.Glu737Val)
c.2264A>T (p.Glu755Val)
c.968A>T (p.Glu323Val)
c.1970A>T (p.Glu657Val)
c.944A>T (p.Glu315Val)
9g.110800583G>ACA198363568MUSKc.2205G>A (p.Glu735=)
c.1947G>A (p.Glu649=)
c.2181G>A (p.Glu727=)
c.1917G>A (p.Glu639=)
c.2235G>A (p.Glu745=)
c.2211G>A (p.Glu737=)
c.2265G>A (p.Glu755=)
c.969G>A (p.Glu323=)
c.1971G>A (p.Glu657=)
c.945G>A (p.Glu315=)
 dbSNP gnomAD v2 gnomAD v4
9g.110800583G>CCA374478590MUSKc.2205G>C (p.Glu735Asp)
c.1947G>C (p.Glu649Asp)
c.2181G>C (p.Glu727Asp)
c.1917G>C (p.Glu639Asp)
c.2235G>C (p.Glu745Asp)
c.2211G>C (p.Glu737Asp)
c.2265G>C (p.Glu755Asp)
c.969G>C (p.Glu323Asp)
c.1971G>C (p.Glu657Asp)
c.945G>C (p.Glu315Asp)
9g.110800583G=CA1872205667MUSKc.2205G= (p.Glu735=)
c.1947G= (p.Glu649=)
c.2181G= (p.Glu727=)
c.1917G= (p.Glu639=)
c.2235G= (p.Glu745=)
c.2211G= (p.Glu737=)
c.2265G= (p.Glu755=)
c.969G= (p.Glu323=)
c.1971G= (p.Glu657=)
c.945G= (p.Glu315=)
9g.110800583G>TCA374478591MUSKc.2205G>T (p.Glu735Asp)
c.1947G>T (p.Glu649Asp)
c.2181G>T (p.Glu727Asp)
c.1917G>T (p.Glu639Asp)
c.2235G>T (p.Glu745Asp)
c.2211G>T (p.Glu737Asp)
c.2265G>T (p.Glu755Asp)
c.969G>T (p.Glu323Asp)
c.1971G>T (p.Glu657Asp)
c.945G>T (p.Glu315Asp)
9g.110800584A>CCA374478593MUSKc.2206A>C (p.Asn736His)
c.1948A>C (p.Asn650His)
c.2182A>C (p.Asn728His)
c.1918A>C (p.Asn640His)
c.2236A>C (p.Asn746His)
c.2212A>C (p.Asn738His)
c.2266A>C (p.Asn756His)
c.970A>C (p.Asn324His)
c.1972A>C (p.Asn658His)
c.946A>C (p.Asn316His)
9g.110800584A>GCA374478594MUSKc.2206A>G (p.Asn736Asp)
c.1948A>G (p.Asn650Asp)
c.2182A>G (p.Asn728Asp)
c.1918A>G (p.Asn640Asp)
c.2236A>G (p.Asn746Asp)
c.2212A>G (p.Asn738Asp)
c.2266A>G (p.Asn756Asp)
c.970A>G (p.Asn324Asp)
c.1972A>G (p.Asn658Asp)
c.946A>G (p.Asn316Asp)
9g.110800584A>TCA374478595MUSKc.2206A>T (p.Asn736Tyr)
c.1948A>T (p.Asn650Tyr)
c.2182A>T (p.Asn728Tyr)
c.1918A>T (p.Asn640Tyr)
c.2236A>T (p.Asn746Tyr)
c.2212A>T (p.Asn738Tyr)
c.2266A>T (p.Asn756Tyr)
c.970A>T (p.Asn324Tyr)
c.1972A>T (p.Asn658Tyr)
c.946A>T (p.Asn316Tyr)
9g.110800585A>CCA374478597MUSKc.2207A>C (p.Asn736Thr)
c.1949A>C (p.Asn650Thr)
c.2183A>C (p.Asn728Thr)
c.1919A>C (p.Asn640Thr)
c.2237A>C (p.Asn746Thr)
c.2213A>C (p.Asn738Thr)
c.2267A>C (p.Asn756Thr)
c.971A>C (p.Asn324Thr)
c.1973A>C (p.Asn658Thr)
c.947A>C (p.Asn316Thr)
 gnomAD v4
9g.110800585A>GCA374478598MUSKc.2207A>G (p.Asn736Ser)
c.1949A>G (p.Asn650Ser)
c.2183A>G (p.Asn728Ser)
c.1919A>G (p.Asn640Ser)
c.2237A>G (p.Asn746Ser)
c.2213A>G (p.Asn738Ser)
c.2267A>G (p.Asn756Ser)
c.971A>G (p.Asn324Ser)
c.1973A>G (p.Asn658Ser)
c.947A>G (p.Asn316Ser)
9g.110800585A>TCA374478601MUSKc.2207A>T (p.Asn736Ile)
c.1949A>T (p.Asn650Ile)
c.2183A>T (p.Asn728Ile)
c.1919A>T (p.Asn640Ile)
c.2237A>T (p.Asn746Ile)
c.2213A>T (p.Asn738Ile)
c.2267A>T (p.Asn756Ile)
c.971A>T (p.Asn324Ile)
c.1973A>T (p.Asn658Ile)
c.947A>T (p.Asn316Ile)
9g.110800586C>ACA374478603MUSKc.2208C>A (p.Asn736Lys)
c.1950C>A (p.Asn650Lys)
c.2184C>A (p.Asn728Lys)
c.1920C>A (p.Asn640Lys)
c.2238C>A (p.Asn746Lys)
c.2214C>A (p.Asn738Lys)
c.2268C>A (p.Asn756Lys)
c.972C>A (p.Asn324Lys)
c.1974C>A (p.Asn658Lys)
c.948C>A (p.Asn316Lys)
9g.110800586C=CA1872205668MUSKc.2208C= (p.Asn736=)
c.1950C= (p.Asn650=)
c.2184C= (p.Asn728=)
c.1920C= (p.Asn640=)
c.2238C= (p.Asn746=)
c.2214C= (p.Asn738=)
c.2268C= (p.Asn756=)
c.972C= (p.Asn324=)
c.1974C= (p.Asn658=)
c.948C= (p.Asn316=)
9g.110800586C>GCA5184583MUSKc.2208C>G (p.Asn736Lys)
c.1950C>G (p.Asn650Lys)
c.2184C>G (p.Asn728Lys)
c.1920C>G (p.Asn640Lys)
c.2238C>G (p.Asn746Lys)
c.2214C>G (p.Asn738Lys)
c.2268C>G (p.Asn756Lys)
c.972C>G (p.Asn324Lys)
c.1974C>G (p.Asn658Lys)
c.948C>G (p.Asn316Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800586C>TCA466900894MUSKc.2208C>T (p.Asn736=)
c.1950C>T (p.Asn650=)
c.2184C>T (p.Asn728=)
c.1920C>T (p.Asn640=)
c.2238C>T (p.Asn746=)
c.2214C>T (p.Asn738=)
c.2268C>T (p.Asn756=)
c.972C>T (p.Asn324=)
c.1974C>T (p.Asn658=)
c.948C>T (p.Asn316=)
 ClinVar gnomAD v4
9g.110800587A=CA1872205669MUSKc.2209A= (p.Met737=)
c.1951A= (p.Met651=)
c.2185A= (p.Met729=)
c.1921A= (p.Met641=)
c.2239A= (p.Met747=)
c.2215A= (p.Met739=)
c.2269A= (p.Met757=)
c.973A= (p.Met325=)
c.1975A= (p.Met659=)
c.949A= (p.Met317=)
9g.110800587A>CCA374478612MUSKc.2209A>C (p.Met737Leu)
c.1951A>C (p.Met651Leu)
c.2185A>C (p.Met729Leu)
c.1921A>C (p.Met641Leu)
c.2239A>C (p.Met747Leu)
c.2215A>C (p.Met739Leu)
c.2269A>C (p.Met757Leu)
c.973A>C (p.Met325Leu)
c.1975A>C (p.Met659Leu)
c.949A>C (p.Met317Leu)
 dbSNP gnomAD v4
9g.110800587A>GCA374478610MUSKc.2209A>G (p.Met737Val)
c.1951A>G (p.Met651Val)
c.2185A>G (p.Met729Val)
c.1921A>G (p.Met641Val)
c.2239A>G (p.Met747Val)
c.2215A>G (p.Met739Val)
c.2269A>G (p.Met757Val)
c.973A>G (p.Met325Val)
c.1975A>G (p.Met659Val)
c.949A>G (p.Met317Val)
 dbSNP gnomAD v4
9g.110800587A>TCA374478608MUSKc.2209A>T (p.Met737Leu)
c.1951A>T (p.Met651Leu)
c.2185A>T (p.Met729Leu)
c.1921A>T (p.Met641Leu)
c.2239A>T (p.Met747Leu)
c.2215A>T (p.Met739Leu)
c.2269A>T (p.Met757Leu)
c.973A>T (p.Met325Leu)
c.1975A>T (p.Met659Leu)
c.949A>T (p.Met317Leu)
 gnomAD v3 gnomAD v4
9g.110800588T>ACA374478613MUSKc.2210T>A (p.Met737Lys)
c.1952T>A (p.Met651Lys)
c.2186T>A (p.Met729Lys)
c.1922T>A (p.Met641Lys)
c.2240T>A (p.Met747Lys)
c.2216T>A (p.Met739Lys)
c.2270T>A (p.Met757Lys)
c.974T>A (p.Met325Lys)
c.1976T>A (p.Met659Lys)
c.950T>A (p.Met317Lys)
9g.110800588T>CCA198363578MUSKc.2210T>C (p.Met737Thr)
c.1952T>C (p.Met651Thr)
c.2186T>C (p.Met729Thr)
c.1922T>C (p.Met641Thr)
c.2240T>C (p.Met747Thr)
c.2216T>C (p.Met739Thr)
c.2270T>C (p.Met757Thr)
c.974T>C (p.Met325Thr)
c.1976T>C (p.Met659Thr)
c.950T>C (p.Met317Thr)
 dbSNP gnomAD v4
9g.110800588T>GCA374478617MUSKc.2210T>G (p.Met737Arg)
c.1952T>G (p.Met651Arg)
c.2186T>G (p.Met729Arg)
c.1922T>G (p.Met641Arg)
c.2240T>G (p.Met747Arg)
c.2216T>G (p.Met739Arg)
c.2270T>G (p.Met757Arg)
c.974T>G (p.Met325Arg)
c.1976T>G (p.Met659Arg)
c.950T>G (p.Met317Arg)
9g.110800588T=CA1872205670MUSKc.2210T= (p.Met737=)
c.1952T= (p.Met651=)
c.2186T= (p.Met729=)
c.1922T= (p.Met641=)
c.2240T= (p.Met747=)
c.2216T= (p.Met739=)
c.2270T= (p.Met757=)
c.974T= (p.Met325=)
c.1976T= (p.Met659=)
c.950T= (p.Met317=)
9g.110800589G>ACA374478619MUSKc.2211G>A (p.Met737Ile)
c.1953G>A (p.Met651Ile)
c.2187G>A (p.Met729Ile)
c.1923G>A (p.Met641Ile)
c.2241G>A (p.Met747Ile)
c.2217G>A (p.Met739Ile)
c.2271G>A (p.Met757Ile)
c.975G>A (p.Met325Ile)
c.1977G>A (p.Met659Ile)
c.951G>A (p.Met317Ile)
 gnomAD v4
9g.110800589G>CCA374478620MUSKc.2211G>C (p.Met737Ile)
c.1953G>C (p.Met651Ile)
c.2187G>C (p.Met729Ile)
c.1923G>C (p.Met641Ile)
c.2241G>C (p.Met747Ile)
c.2217G>C (p.Met739Ile)
c.2271G>C (p.Met757Ile)
c.975G>C (p.Met325Ile)
c.1977G>C (p.Met659Ile)
c.951G>C (p.Met317Ile)
9g.110800589G>TCA374478624MUSKc.2211G>T (p.Met737Ile)
c.1953G>T (p.Met651Ile)
c.2187G>T (p.Met729Ile)
c.1923G>T (p.Met641Ile)
c.2241G>T (p.Met747Ile)
c.2217G>T (p.Met739Ile)
c.2271G>T (p.Met757Ile)
c.975G>T (p.Met325Ile)
c.1977G>T (p.Met659Ile)
c.951G>T (p.Met317Ile)
9g.110800590G>ACA374478626MUSKc.2212G>A (p.Val738Met)
c.1954G>A (p.Val652Met)
c.2188G>A (p.Val730Met)
c.1924G>A (p.Val642Met)
c.2242G>A (p.Val748Met)
c.2218G>A (p.Val740Met)
c.2272G>A (p.Val758Met)
c.976G>A (p.Val326Met)
c.1978G>A (p.Val660Met)
c.952G>A (p.Val318Met)
9g.110800590G>CCA374478628MUSKc.2212G>C (p.Val738Leu)
c.1954G>C (p.Val652Leu)
c.2188G>C (p.Val730Leu)
c.1924G>C (p.Val642Leu)
c.2242G>C (p.Val748Leu)
c.2218G>C (p.Val740Leu)
c.2272G>C (p.Val758Leu)
c.976G>C (p.Val326Leu)
c.1978G>C (p.Val660Leu)
c.952G>C (p.Val318Leu)
9g.110800590G>TCA374478629MUSKc.2212G>T (p.Val738Leu)
c.1954G>T (p.Val652Leu)
c.2188G>T (p.Val730Leu)
c.1924G>T (p.Val642Leu)
c.2242G>T (p.Val748Leu)
c.2218G>T (p.Val740Leu)
c.2272G>T (p.Val758Leu)
c.976G>T (p.Val326Leu)
c.1978G>T (p.Val660Leu)
c.952G>T (p.Val318Leu)
9g.110800591T>ACA374478638MUSKc.2213T>A (p.Val738Glu)
c.1955T>A (p.Val652Glu)
c.2189T>A (p.Val730Glu)
c.1925T>A (p.Val642Glu)
c.2243T>A (p.Val748Glu)
c.2219T>A (p.Val740Glu)
c.2273T>A (p.Val758Glu)
c.977T>A (p.Val326Glu)
c.1979T>A (p.Val660Glu)
c.953T>A (p.Val318Glu)
9g.110800591T>CCA5184584MUSKc.2213T>C (p.Val738Ala)
c.1955T>C (p.Val652Ala)
c.2189T>C (p.Val730Ala)
c.1925T>C (p.Val642Ala)
c.2243T>C (p.Val748Ala)
c.2219T>C (p.Val740Ala)
c.2273T>C (p.Val758Ala)
c.977T>C (p.Val326Ala)
c.1979T>C (p.Val660Ala)
c.953T>C (p.Val318Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800591T>GCA374478640MUSKc.2213T>G (p.Val738Gly)
c.1955T>G (p.Val652Gly)
c.2189T>G (p.Val730Gly)
c.1925T>G (p.Val642Gly)
c.2243T>G (p.Val748Gly)
c.2219T>G (p.Val740Gly)
c.2273T>G (p.Val758Gly)
c.977T>G (p.Val326Gly)
c.1979T>G (p.Val660Gly)
c.953T>G (p.Val318Gly)
9g.110800591T=CA1872205671MUSKc.2213T= (p.Val738=)
c.1955T= (p.Val652=)
c.2189T= (p.Val730=)
c.1925T= (p.Val642=)
c.2243T= (p.Val748=)
c.2219T= (p.Val740=)
c.2273T= (p.Val758=)
c.977T= (p.Val326=)
c.1979T= (p.Val660=)
c.953T= (p.Val318=)
9g.110800592G>ACA5184585MUSKc.2214G>A (p.Val738=)
c.1956G>A (p.Val652=)
c.2190G>A (p.Val730=)
c.1926G>A (p.Val642=)
c.2244G>A (p.Val748=)
c.2220G>A (p.Val740=)
c.2274G>A (p.Val758=)
c.978G>A (p.Val326=)
c.1980G>A (p.Val660=)
c.954G>A (p.Val318=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800592G>CCA466900896MUSKc.2214G>C (p.Val738=)
c.1956G>C (p.Val652=)
c.2190G>C (p.Val730=)
c.1926G>C (p.Val642=)
c.2244G>C (p.Val748=)
c.2220G>C (p.Val740=)
c.2274G>C (p.Val758=)
c.978G>C (p.Val326=)
c.1980G>C (p.Val660=)
c.954G>C (p.Val318=)
9g.110800592G=CA1872205672MUSKc.2214G= (p.Val738=)
c.1956G= (p.Val652=)
c.2190G= (p.Val730=)
c.1926G= (p.Val642=)
c.2244G= (p.Val748=)
c.2220G= (p.Val740=)
c.2274G= (p.Val758=)
c.978G= (p.Val326=)
c.1980G= (p.Val660=)
c.954G= (p.Val318=)
9g.110800592G>TCA466900895MUSKc.2214G>T (p.Val738=)
c.1956G>T (p.Val652=)
c.2190G>T (p.Val730=)
c.1926G>T (p.Val642=)
c.2244G>T (p.Val748=)
c.2220G>T (p.Val740=)
c.2274G>T (p.Val758=)
c.978G>T (p.Val326=)
c.1980G>T (p.Val660=)
c.954G>T (p.Val318=)
9g.110800593G>ACA374478649MUSKc.2215G>A (p.Val739Met)
c.1957G>A (p.Val653Met)
c.2191G>A (p.Val731Met)
c.1927G>A (p.Val643Met)
c.2245G>A (p.Val749Met)
c.2221G>A (p.Val741Met)
c.2275G>A (p.Val759Met)
c.979G>A (p.Val327Met)
c.1981G>A (p.Val661Met)
c.955G>A (p.Val319Met)
 gnomAD v4
9g.110800593G>CCA374478650MUSKc.2215G>C (p.Val739Leu)
c.1957G>C (p.Val653Leu)
c.2191G>C (p.Val731Leu)
c.1927G>C (p.Val643Leu)
c.2245G>C (p.Val749Leu)
c.2221G>C (p.Val741Leu)
c.2275G>C (p.Val759Leu)
c.979G>C (p.Val327Leu)
c.1981G>C (p.Val661Leu)
c.955G>C (p.Val319Leu)
9g.110800593G>TCA374478647MUSKc.2215G>T (p.Val739Leu)
c.1957G>T (p.Val653Leu)
c.2191G>T (p.Val731Leu)
c.1927G>T (p.Val643Leu)
c.2245G>T (p.Val749Leu)
c.2221G>T (p.Val741Leu)
c.2275G>T (p.Val759Leu)
c.979G>T (p.Val327Leu)
c.1981G>T (p.Val661Leu)
c.955G>T (p.Val319Leu)
 gnomAD v4 COSMIC COSMIC
9g.110800594T>ACA374478653MUSKc.2216T>A (p.Val739Glu)
c.1958T>A (p.Val653Glu)
c.2192T>A (p.Val731Glu)
c.1928T>A (p.Val643Glu)
c.2246T>A (p.Val749Glu)
c.2222T>A (p.Val741Glu)
c.2276T>A (p.Val759Glu)
c.980T>A (p.Val327Glu)
c.1982T>A (p.Val661Glu)
c.956T>A (p.Val319Glu)
9g.110800594T>CCA5184586MUSKc.2216T>C (p.Val739Ala)
c.1958T>C (p.Val653Ala)
c.2192T>C (p.Val731Ala)
c.1928T>C (p.Val643Ala)
c.2246T>C (p.Val749Ala)
c.2222T>C (p.Val741Ala)
c.2276T>C (p.Val759Ala)
c.980T>C (p.Val327Ala)
c.1982T>C (p.Val661Ala)
c.956T>C (p.Val319Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800594T>GCA374478658MUSKc.2216T>G (p.Val739Gly)
c.1958T>G (p.Val653Gly)
c.2192T>G (p.Val731Gly)
c.1928T>G (p.Val643Gly)
c.2246T>G (p.Val749Gly)
c.2222T>G (p.Val741Gly)
c.2276T>G (p.Val759Gly)
c.980T>G (p.Val327Gly)
c.1982T>G (p.Val661Gly)
c.956T>G (p.Val319Gly)
9g.110800594T=CA1872205673MUSKc.2216T= (p.Val739=)
c.1958T= (p.Val653=)
c.2192T= (p.Val731=)
c.1928T= (p.Val643=)
c.2246T= (p.Val749=)
c.2222T= (p.Val741=)
c.2276T= (p.Val759=)
c.980T= (p.Val327=)
c.1982T= (p.Val661=)
c.956T= (p.Val319=)
9g.110800595G>ACA466900897MUSKc.2217G>A (p.Val739=)
c.1959G>A (p.Val653=)
c.2193G>A (p.Val731=)
c.1929G>A (p.Val643=)
c.2247G>A (p.Val749=)
c.2223G>A (p.Val741=)
c.2277G>A (p.Val759=)
c.981G>A (p.Val327=)
c.1983G>A (p.Val661=)
c.957G>A (p.Val319=)
 dbSNP gnomAD v2 gnomAD v4
9g.110800595G>CCA466900899MUSKc.2217G>C (p.Val739=)
c.1959G>C (p.Val653=)
c.2193G>C (p.Val731=)
c.1929G>C (p.Val643=)
c.2247G>C (p.Val749=)
c.2223G>C (p.Val741=)
c.2277G>C (p.Val759=)
c.981G>C (p.Val327=)
c.1983G>C (p.Val661=)
c.957G>C (p.Val319=)
9g.110800595G=CA1872205674MUSKc.2217G= (p.Val739=)
c.1959G= (p.Val653=)
c.2193G= (p.Val731=)
c.1929G= (p.Val643=)
c.2247G= (p.Val749=)
c.2223G= (p.Val741=)
c.2277G= (p.Val759=)
c.981G= (p.Val327=)
c.1983G= (p.Val661=)
c.957G= (p.Val319=)
9g.110800595G>TCA466900898MUSKc.2217G>T (p.Val739=)
c.1959G>T (p.Val653=)
c.2193G>T (p.Val731=)
c.1929G>T (p.Val643=)
c.2247G>T (p.Val749=)
c.2223G>T (p.Val741=)
c.2277G>T (p.Val759=)
c.981G>T (p.Val327=)
c.1983G>T (p.Val661=)
c.957G>T (p.Val319=)
9g.110800596A>CCA374478662MUSKc.2218A>C (p.Lys740Gln)
c.1960A>C (p.Lys654Gln)
c.2194A>C (p.Lys732Gln)
c.1930A>C (p.Lys644Gln)
c.2248A>C (p.Lys750Gln)
c.2224A>C (p.Lys742Gln)
c.2278A>C (p.Lys760Gln)
c.982A>C (p.Lys328Gln)
c.1984A>C (p.Lys662Gln)
c.958A>C (p.Lys320Gln)
9g.110800596A>GCA374478665MUSKc.2218A>G (p.Lys740Glu)
c.1960A>G (p.Lys654Glu)
c.2194A>G (p.Lys732Glu)
c.1930A>G (p.Lys644Glu)
c.2248A>G (p.Lys750Glu)
c.2224A>G (p.Lys742Glu)
c.2278A>G (p.Lys760Glu)
c.982A>G (p.Lys328Glu)
c.1984A>G (p.Lys662Glu)
c.958A>G (p.Lys320Glu)
9g.110800596A>TCA374478664MUSKc.2218A>T (p.Lys740Ter)
c.1960A>T (p.Lys654Ter)
c.2194A>T (p.Lys732Ter)
c.1930A>T (p.Lys644Ter)
c.2248A>T (p.Lys750Ter)
c.2224A>T (p.Lys742Ter)
c.2278A>T (p.Lys760Ter)
c.982A>T (p.Lys328Ter)
c.1984A>T (p.Lys662Ter)
c.958A>T (p.Lys320Ter)
9g.110800597A>CCA374478668MUSKc.2219A>C (p.Lys740Thr)
c.1961A>C (p.Lys654Thr)
c.2195A>C (p.Lys732Thr)
c.1931A>C (p.Lys644Thr)
c.2249A>C (p.Lys750Thr)
c.2225A>C (p.Lys742Thr)
c.2279A>C (p.Lys760Thr)
c.983A>C (p.Lys328Thr)
c.1985A>C (p.Lys662Thr)
c.959A>C (p.Lys320Thr)
 gnomAD v4
9g.110800597A>GCA374478671MUSKc.2219A>G (p.Lys740Arg)
c.1961A>G (p.Lys654Arg)
c.2195A>G (p.Lys732Arg)
c.1931A>G (p.Lys644Arg)
c.2249A>G (p.Lys750Arg)
c.2225A>G (p.Lys742Arg)
c.2279A>G (p.Lys760Arg)
c.983A>G (p.Lys328Arg)
c.1985A>G (p.Lys662Arg)
c.959A>G (p.Lys320Arg)
9g.110800597A>TCA374478673MUSKc.2219A>T (p.Lys740Ile)
c.1961A>T (p.Lys654Ile)
c.2195A>T (p.Lys732Ile)
c.1931A>T (p.Lys644Ile)
c.2249A>T (p.Lys750Ile)
c.2225A>T (p.Lys742Ile)
c.2279A>T (p.Lys760Ile)
c.983A>T (p.Lys328Ile)
c.1985A>T (p.Lys662Ile)
c.959A>T (p.Lys320Ile)
9g.110800598A>CCA374478680MUSKc.2220A>C (p.Lys740Asn)
c.1962A>C (p.Lys654Asn)
c.2196A>C (p.Lys732Asn)
c.1932A>C (p.Lys644Asn)
c.2250A>C (p.Lys750Asn)
c.2226A>C (p.Lys742Asn)
c.2280A>C (p.Lys760Asn)
c.984A>C (p.Lys328Asn)
c.1986A>C (p.Lys662Asn)
c.960A>C (p.Lys320Asn)
9g.110800598A>GCA466900900MUSKc.2220A>G (p.Lys740=)
c.1962A>G (p.Lys654=)
c.2196A>G (p.Lys732=)
c.1932A>G (p.Lys644=)
c.2250A>G (p.Lys750=)
c.2226A>G (p.Lys742=)
c.2280A>G (p.Lys760=)
c.984A>G (p.Lys328=)
c.1986A>G (p.Lys662=)
c.960A>G (p.Lys320=)
9g.110800598A>TCA374478683MUSKc.2220A>T (p.Lys740Asn)
c.1962A>T (p.Lys654Asn)
c.2196A>T (p.Lys732Asn)
c.1932A>T (p.Lys644Asn)
c.2250A>T (p.Lys750Asn)
c.2226A>T (p.Lys742Asn)
c.2280A>T (p.Lys760Asn)
c.984A>T (p.Lys328Asn)
c.1986A>T (p.Lys662Asn)
c.960A>T (p.Lys320Asn)
9g.110800599A>CCA374478686MUSKc.2221A>C (p.Ile741Leu)
c.1963A>C (p.Ile655Leu)
c.2197A>C (p.Ile733Leu)
c.1933A>C (p.Ile645Leu)
c.2251A>C (p.Ile751Leu)
c.2227A>C (p.Ile743Leu)
c.2281A>C (p.Ile761Leu)
c.985A>C (p.Ile329Leu)
c.1987A>C (p.Ile663Leu)
c.961A>C (p.Ile321Leu)
9g.110800599A>GCA374478687MUSKc.2221A>G (p.Ile741Val)
c.1963A>G (p.Ile655Val)
c.2197A>G (p.Ile733Val)
c.1933A>G (p.Ile645Val)
c.2251A>G (p.Ile751Val)
c.2227A>G (p.Ile743Val)
c.2281A>G (p.Ile761Val)
c.985A>G (p.Ile329Val)
c.1987A>G (p.Ile663Val)
c.961A>G (p.Ile321Val)
9g.110800599A>TCA374478688MUSKc.2221A>T (p.Ile741Phe)
c.1963A>T (p.Ile655Phe)
c.2197A>T (p.Ile733Phe)
c.1933A>T (p.Ile645Phe)
c.2251A>T (p.Ile751Phe)
c.2227A>T (p.Ile743Phe)
c.2281A>T (p.Ile761Phe)
c.985A>T (p.Ile329Phe)
c.1987A>T (p.Ile663Phe)
c.961A>T (p.Ile321Phe)
9g.110800600T>ACA374478689MUSKc.2222T>A (p.Ile741Asn)
c.1964T>A (p.Ile655Asn)
c.2198T>A (p.Ile733Asn)
c.1934T>A (p.Ile645Asn)
c.2252T>A (p.Ile751Asn)
c.2228T>A (p.Ile743Asn)
c.2282T>A (p.Ile761Asn)
c.986T>A (p.Ile329Asn)
c.1988T>A (p.Ile663Asn)
c.962T>A (p.Ile321Asn)
9g.110800600T>CCA5184587MUSKc.2222T>C (p.Ile741Thr)
c.1964T>C (p.Ile655Thr)
c.2198T>C (p.Ile733Thr)
c.1934T>C (p.Ile645Thr)
c.2252T>C (p.Ile751Thr)
c.2228T>C (p.Ile743Thr)
c.2282T>C (p.Ile761Thr)
c.986T>C (p.Ile329Thr)
c.1988T>C (p.Ile663Thr)
c.962T>C (p.Ile321Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800600T>GCA374478691MUSKc.2222T>G (p.Ile741Ser)
c.1964T>G (p.Ile655Ser)
c.2198T>G (p.Ile733Ser)
c.1934T>G (p.Ile645Ser)
c.2252T>G (p.Ile751Ser)
c.2228T>G (p.Ile743Ser)
c.2282T>G (p.Ile761Ser)
c.986T>G (p.Ile329Ser)
c.1988T>G (p.Ile663Ser)
c.962T>G (p.Ile321Ser)
9g.110800600T=CA1872205675MUSKc.2222T= (p.Ile741=)
c.1964T= (p.Ile655=)
c.2198T= (p.Ile733=)
c.1934T= (p.Ile645=)
c.2252T= (p.Ile751=)
c.2228T= (p.Ile743=)
c.2282T= (p.Ile761=)
c.986T= (p.Ile329=)
c.1988T= (p.Ile663=)
c.962T= (p.Ile321=)
9g.110800601T>ACA466900902MUSKc.2223T>A (p.Ile741=)
c.1965T>A (p.Ile655=)
c.2199T>A (p.Ile733=)
c.1935T>A (p.Ile645=)
c.2253T>A (p.Ile751=)
c.2229T>A (p.Ile743=)
c.2283T>A (p.Ile761=)
c.987T>A (p.Ile329=)
c.1989T>A (p.Ile663=)
c.963T>A (p.Ile321=)
 gnomAD v4
9g.110800601T>CCA466900901MUSKc.2223T>C (p.Ile741=)
c.1965T>C (p.Ile655=)
c.2199T>C (p.Ile733=)
c.1935T>C (p.Ile645=)
c.2253T>C (p.Ile751=)
c.2229T>C (p.Ile743=)
c.2283T>C (p.Ile761=)
c.987T>C (p.Ile329=)
c.1989T>C (p.Ile663=)
c.963T>C (p.Ile321=)
9g.110800601T>GCA374478693MUSKc.2223T>G (p.Ile741Met)
c.1965T>G (p.Ile655Met)
c.2199T>G (p.Ile733Met)
c.1935T>G (p.Ile645Met)
c.2253T>G (p.Ile751Met)
c.2229T>G (p.Ile743Met)
c.2283T>G (p.Ile761Met)
c.987T>G (p.Ile329Met)
c.1989T>G (p.Ile663Met)
c.963T>G (p.Ile321Met)
9g.110800602G>ACA374478704MUSKc.2224G>A (p.Ala742Thr)
c.1966G>A (p.Ala656Thr)
c.2200G>A (p.Ala734Thr)
c.1936G>A (p.Ala646Thr)
c.2254G>A (p.Ala752Thr)
c.2230G>A (p.Ala744Thr)
c.2284G>A (p.Ala762Thr)
c.988G>A (p.Ala330Thr)
c.1990G>A (p.Ala664Thr)
c.964G>A (p.Ala322Thr)
9g.110800602G>CCA374478702MUSKc.2224G>C (p.Ala742Pro)
c.1966G>C (p.Ala656Pro)
c.2200G>C (p.Ala734Pro)
c.1936G>C (p.Ala646Pro)
c.2254G>C (p.Ala752Pro)
c.2230G>C (p.Ala744Pro)
c.2284G>C (p.Ala762Pro)
c.988G>C (p.Ala330Pro)
c.1990G>C (p.Ala664Pro)
c.964G>C (p.Ala322Pro)
9g.110800602G>TCA374478696MUSKc.2224G>T (p.Ala742Ser)
c.1966G>T (p.Ala656Ser)
c.2200G>T (p.Ala734Ser)
c.1936G>T (p.Ala646Ser)
c.2254G>T (p.Ala752Ser)
c.2230G>T (p.Ala744Ser)
c.2284G>T (p.Ala762Ser)
c.988G>T (p.Ala330Ser)
c.1990G>T (p.Ala664Ser)
c.964G>T (p.Ala322Ser)
9g.110800603C>ACA374478706MUSKc.2225C>A (p.Ala742Asp)
c.1967C>A (p.Ala656Asp)
c.2201C>A (p.Ala734Asp)
c.1937C>A (p.Ala646Asp)
c.2255C>A (p.Ala752Asp)
c.2231C>A (p.Ala744Asp)
c.2285C>A (p.Ala762Asp)
c.989C>A (p.Ala330Asp)
c.1991C>A (p.Ala664Asp)
c.965C>A (p.Ala322Asp)
9g.110800603C=CA1872205676MUSKc.2225C= (p.Ala742=)
c.1967C= (p.Ala656=)
c.2201C= (p.Ala734=)
c.1937C= (p.Ala646=)
c.2255C= (p.Ala752=)
c.2231C= (p.Ala744=)
c.2285C= (p.Ala762=)
c.989C= (p.Ala330=)
c.1991C= (p.Ala664=)
c.965C= (p.Ala322=)
9g.110800603C>GCA374478707MUSKc.2225C>G (p.Ala742Gly)
c.1967C>G (p.Ala656Gly)
c.2201C>G (p.Ala734Gly)
c.1937C>G (p.Ala646Gly)
c.2255C>G (p.Ala752Gly)
c.2231C>G (p.Ala744Gly)
c.2285C>G (p.Ala762Gly)
c.989C>G (p.Ala330Gly)
c.1991C>G (p.Ala664Gly)
c.965C>G (p.Ala322Gly)
9g.110800603C>TCA374478708MUSKc.2225C>T (p.Ala742Val)
c.1967C>T (p.Ala656Val)
c.2201C>T (p.Ala734Val)
c.1937C>T (p.Ala646Val)
c.2255C>T (p.Ala752Val)
c.2231C>T (p.Ala744Val)
c.2285C>T (p.Ala762Val)
c.989C>T (p.Ala330Val)
c.1991C>T (p.Ala664Val)
c.965C>T (p.Ala322Val)
 dbSNP gnomAD v4
9g.110800604C>ACA5184589MUSKc.2226C>A (p.Ala742=)
c.1968C>A (p.Ala656=)
c.2202C>A (p.Ala734=)
c.1938C>A (p.Ala646=)
c.2256C>A (p.Ala752=)
c.2232C>A (p.Ala744=)
c.2286C>A (p.Ala762=)
c.990C>A (p.Ala330=)
c.1992C>A (p.Ala664=)
c.966C>A (p.Ala322=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800604C=CA1872205677MUSKc.2226C= (p.Ala742=)
c.1968C= (p.Ala656=)
c.2202C= (p.Ala734=)
c.1938C= (p.Ala646=)
c.2256C= (p.Ala752=)
c.2232C= (p.Ala744=)
c.2286C= (p.Ala762=)
c.990C= (p.Ala330=)
c.1992C= (p.Ala664=)
c.966C= (p.Ala322=)
9g.110800604C>GCA466900903MUSKc.2226C>G (p.Ala742=)
c.1968C>G (p.Ala656=)
c.2202C>G (p.Ala734=)
c.1938C>G (p.Ala646=)
c.2256C>G (p.Ala752=)
c.2232C>G (p.Ala744=)
c.2286C>G (p.Ala762=)
c.990C>G (p.Ala330=)
c.1992C>G (p.Ala664=)
c.966C>G (p.Ala322=)
9g.110800604C>TCA5184588MUSKc.2226C>T (p.Ala742=)
c.1968C>T (p.Ala656=)
c.2202C>T (p.Ala734=)
c.1938C>T (p.Ala646=)
c.2256C>T (p.Ala752=)
c.2232C>T (p.Ala744=)
c.2286C>T (p.Ala762=)
c.990C>T (p.Ala330=)
c.1992C>T (p.Ala664=)
c.966C>T (p.Ala322=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800605G>ACA5184590MUSKc.2227G>A (p.Asp743Asn)
c.1969G>A (p.Asp657Asn)
c.2203G>A (p.Asp735Asn)
c.1939G>A (p.Asp647Asn)
c.2257G>A (p.Asp753Asn)
c.2233G>A (p.Asp745Asn)
c.2287G>A (p.Asp763Asn)
c.991G>A (p.Asp331Asn)
c.1993G>A (p.Asp665Asn)
c.967G>A (p.Asp323Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800605G>CCA5184591MUSKc.2227G>C (p.Asp743His)
c.1969G>C (p.Asp657His)
c.2203G>C (p.Asp735His)
c.1939G>C (p.Asp647His)
c.2257G>C (p.Asp753His)
c.2233G>C (p.Asp745His)
c.2287G>C (p.Asp763His)
c.991G>C (p.Asp331His)
c.1993G>C (p.Asp665His)
c.967G>C (p.Asp323His)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800605G=CA1872205678MUSKc.2227G= (p.Asp743=)
c.1969G= (p.Asp657=)
c.2203G= (p.Asp735=)
c.1939G= (p.Asp647=)
c.2257G= (p.Asp753=)
c.2233G= (p.Asp745=)
c.2287G= (p.Asp763=)
c.991G= (p.Asp331=)
c.1993G= (p.Asp665=)
c.967G= (p.Asp323=)
9g.110800605G>TCA374478716MUSKc.2227G>T (p.Asp743Tyr)
c.1969G>T (p.Asp657Tyr)
c.2203G>T (p.Asp735Tyr)
c.1939G>T (p.Asp647Tyr)
c.2257G>T (p.Asp753Tyr)
c.2233G>T (p.Asp745Tyr)
c.2287G>T (p.Asp763Tyr)
c.991G>T (p.Asp331Tyr)
c.1993G>T (p.Asp665Tyr)
c.967G>T (p.Asp323Tyr)
 gnomAD v4
9g.110800606A>CCA374478718MUSKc.2228A>C (p.Asp743Ala)
c.1970A>C (p.Asp657Ala)
c.2204A>C (p.Asp735Ala)
c.1940A>C (p.Asp647Ala)
c.2258A>C (p.Asp753Ala)
c.2234A>C (p.Asp745Ala)
c.2288A>C (p.Asp763Ala)
c.992A>C (p.Asp331Ala)
c.1994A>C (p.Asp665Ala)
c.968A>C (p.Asp323Ala)
9g.110800606A>GCA374478721MUSKc.2228A>G (p.Asp743Gly)
c.1970A>G (p.Asp657Gly)
c.2204A>G (p.Asp735Gly)
c.1940A>G (p.Asp647Gly)
c.2258A>G (p.Asp753Gly)
c.2234A>G (p.Asp745Gly)
c.2288A>G (p.Asp763Gly)
c.992A>G (p.Asp331Gly)
c.1994A>G (p.Asp665Gly)
c.968A>G (p.Asp323Gly)
 gnomAD v4
9g.110800606A>TCA374478722MUSKc.2228A>T (p.Asp743Val)
c.1970A>T (p.Asp657Val)
c.2204A>T (p.Asp735Val)
c.1940A>T (p.Asp647Val)
c.2258A>T (p.Asp753Val)
c.2234A>T (p.Asp745Val)
c.2288A>T (p.Asp763Val)
c.992A>T (p.Asp331Val)
c.1994A>T (p.Asp665Val)
c.968A>T (p.Asp323Val)
9g.110800607C>ACA374478723MUSKc.2229C>A (p.Asp743Glu)
c.1971C>A (p.Asp657Glu)
c.2205C>A (p.Asp735Glu)
c.1941C>A (p.Asp647Glu)
c.2259C>A (p.Asp753Glu)
c.2235C>A (p.Asp745Glu)
c.2289C>A (p.Asp763Glu)
c.993C>A (p.Asp331Glu)
c.1995C>A (p.Asp665Glu)
c.969C>A (p.Asp323Glu)
9g.110800607C=CA1872205679MUSKc.2229C= (p.Asp743=)
c.1971C= (p.Asp657=)
c.2205C= (p.Asp735=)
c.1941C= (p.Asp647=)
c.2259C= (p.Asp753=)
c.2235C= (p.Asp745=)
c.2289C= (p.Asp763=)
c.993C= (p.Asp331=)
c.1995C= (p.Asp665=)
c.969C= (p.Asp323=)
9g.110800607C>GCA374478724MUSKc.2229C>G (p.Asp743Glu)
c.1971C>G (p.Asp657Glu)
c.2205C>G (p.Asp735Glu)
c.1941C>G (p.Asp647Glu)
c.2259C>G (p.Asp753Glu)
c.2235C>G (p.Asp745Glu)
c.2289C>G (p.Asp763Glu)
c.993C>G (p.Asp331Glu)
c.1995C>G (p.Asp665Glu)
c.969C>G (p.Asp323Glu)
 COSMIC COSMIC
9g.110800607C>TCA466900904MUSKc.2229C>T (p.Asp743=)
c.1971C>T (p.Asp657=)
c.2205C>T (p.Asp735=)
c.1941C>T (p.Asp647=)
c.2259C>T (p.Asp753=)
c.2235C>T (p.Asp745=)
c.2289C>T (p.Asp763=)
c.993C>T (p.Asp331=)
c.1995C>T (p.Asp665=)
c.969C>T (p.Asp323=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.110800608T>ACA374478726MUSKc.2230T>A (p.Phe744Ile)
c.1972T>A (p.Phe658Ile)
c.2206T>A (p.Phe736Ile)
c.1942T>A (p.Phe648Ile)
c.2260T>A (p.Phe754Ile)
c.2236T>A (p.Phe746Ile)
c.2290T>A (p.Phe764Ile)
c.994T>A (p.Phe332Ile)
c.1996T>A (p.Phe666Ile)
c.970T>A (p.Phe324Ile)
9g.110800608T>CCA374478727MUSKc.2230T>C (p.Phe744Leu)
c.1972T>C (p.Phe658Leu)
c.2206T>C (p.Phe736Leu)
c.1942T>C (p.Phe648Leu)
c.2260T>C (p.Phe754Leu)
c.2236T>C (p.Phe746Leu)
c.2290T>C (p.Phe764Leu)
c.994T>C (p.Phe332Leu)
c.1996T>C (p.Phe666Leu)
c.970T>C (p.Phe324Leu)
9g.110800608T>GCA374478725MUSKc.2230T>G (p.Phe744Val)
c.1972T>G (p.Phe658Val)
c.2206T>G (p.Phe736Val)
c.1942T>G (p.Phe648Val)
c.2260T>G (p.Phe754Val)
c.2236T>G (p.Phe746Val)
c.2290T>G (p.Phe764Val)
c.994T>G (p.Phe332Val)
c.1996T>G (p.Phe666Val)
c.970T>G (p.Phe324Val)
9g.110800609T>ACA374478728MUSKc.2231T>A (p.Phe744Tyr)
c.1973T>A (p.Phe658Tyr)
c.2207T>A (p.Phe736Tyr)
c.1943T>A (p.Phe648Tyr)
c.2261T>A (p.Phe754Tyr)
c.2237T>A (p.Phe746Tyr)
c.2291T>A (p.Phe764Tyr)
c.995T>A (p.Phe332Tyr)
c.1997T>A (p.Phe666Tyr)
c.971T>A (p.Phe324Tyr)
9g.110800609T>CCA374478731MUSKc.2231T>C (p.Phe744Ser)
c.1973T>C (p.Phe658Ser)
c.2207T>C (p.Phe736Ser)
c.1943T>C (p.Phe648Ser)
c.2261T>C (p.Phe754Ser)
c.2237T>C (p.Phe746Ser)
c.2291T>C (p.Phe764Ser)
c.995T>C (p.Phe332Ser)
c.1997T>C (p.Phe666Ser)
c.971T>C (p.Phe324Ser)
9g.110800609T>GCA198363613MUSKc.2231T>G (p.Phe744Cys)
c.1973T>G (p.Phe658Cys)
c.2207T>G (p.Phe736Cys)
c.1943T>G (p.Phe648Cys)
c.2261T>G (p.Phe754Cys)
c.2237T>G (p.Phe746Cys)
c.2291T>G (p.Phe764Cys)
c.995T>G (p.Phe332Cys)
c.1997T>G (p.Phe666Cys)
c.971T>G (p.Phe324Cys)
 dbSNP gnomAD v4
9g.110800609T=CA1872205680MUSKc.2231T= (p.Phe744=)
c.1973T= (p.Phe658=)
c.2207T= (p.Phe736=)
c.1943T= (p.Phe648=)
c.2261T= (p.Phe754=)
c.2237T= (p.Phe746=)
c.2291T= (p.Phe764=)
c.995T= (p.Phe332=)
c.1997T= (p.Phe666=)
c.971T= (p.Phe324=)
9g.110800610T>ACA374478735MUSKc.2232T>A (p.Phe744Leu)
c.1974T>A (p.Phe658Leu)
c.2208T>A (p.Phe736Leu)
c.1944T>A (p.Phe648Leu)
c.2262T>A (p.Phe754Leu)
c.2238T>A (p.Phe746Leu)
c.2292T>A (p.Phe764Leu)
c.996T>A (p.Phe332Leu)
c.1998T>A (p.Phe666Leu)
c.972T>A (p.Phe324Leu)
9g.110800610T>CCA466900905MUSKc.2232T>C (p.Phe744=)
c.1974T>C (p.Phe658=)
c.2208T>C (p.Phe736=)
c.1944T>C (p.Phe648=)
c.2262T>C (p.Phe754=)
c.2238T>C (p.Phe746=)
c.2292T>C (p.Phe764=)
c.996T>C (p.Phe332=)
c.1998T>C (p.Phe666=)
c.972T>C (p.Phe324=)
 dbSNP gnomAD v3 gnomAD v4
9g.110800610T>GCA374478736MUSKc.2232T>G (p.Phe744Leu)
c.1974T>G (p.Phe658Leu)
c.2208T>G (p.Phe736Leu)
c.1944T>G (p.Phe648Leu)
c.2262T>G (p.Phe754Leu)
c.2238T>G (p.Phe746Leu)
c.2292T>G (p.Phe764Leu)
c.996T>G (p.Phe332Leu)
c.1998T>G (p.Phe666Leu)
c.972T>G (p.Phe324Leu)
9g.110800610T=CA1872205681MUSKc.2232T= (p.Phe744=)
c.1974T= (p.Phe658=)
c.2208T= (p.Phe736=)
c.1944T= (p.Phe648=)
c.2262T= (p.Phe754=)
c.2238T= (p.Phe746=)
c.2292T= (p.Phe764=)
c.996T= (p.Phe332=)
c.1998T= (p.Phe666=)
c.972T= (p.Phe324=)
9g.110800610_110800611delinsTGCA1872205682MUSKc.2232_2233delinsTG (p.Phe744=)
c.1974_1975delinsTG (p.Phe658=)
c.2208_2209delinsTG (p.Phe736=)
c.1944_1945delinsTG (p.Phe648=)
c.2262_2263delinsTG (p.Phe754=)
c.2238_2239delinsTG (p.Phe746=)
c.2292_2293delinsTG (p.Phe764=)
c.996_997delinsTG (p.Phe332=)
c.1998_1999delinsTG (p.Phe666=)
c.972_973delinsTG (p.Phe324=)
9g.110800611G>ACA374478738MUSKc.2233G>A (p.Gly745Ser)
c.1975G>A (p.Gly659Ser)
c.2209G>A (p.Gly737Ser)
c.1945G>A (p.Gly649Ser)
c.2263G>A (p.Gly755Ser)
c.2239G>A (p.Gly747Ser)
c.2293G>A (p.Gly765Ser)
c.997G>A (p.Gly333Ser)
c.1999G>A (p.Gly667Ser)
c.973G>A (p.Gly325Ser)
9g.110800611G>CCA374478743MUSKc.2233G>C (p.Gly745Arg)
c.1975G>C (p.Gly659Arg)
c.2209G>C (p.Gly737Arg)
c.1945G>C (p.Gly649Arg)
c.2263G>C (p.Gly755Arg)
c.2239G>C (p.Gly747Arg)
c.2293G>C (p.Gly765Arg)
c.997G>C (p.Gly333Arg)
c.1999G>C (p.Gly667Arg)
c.973G>C (p.Gly325Arg)
9g.110800611G>TCA374478745MUSKc.2233G>T (p.Gly745Cys)
c.1975G>T (p.Gly659Cys)
c.2209G>T (p.Gly737Cys)
c.1945G>T (p.Gly649Cys)
c.2263G>T (p.Gly755Cys)
c.2239G>T (p.Gly747Cys)
c.2293G>T (p.Gly765Cys)
c.997G>T (p.Gly333Cys)
c.1999G>T (p.Gly667Cys)
c.973G>T (p.Gly325Cys)
9g.110800612delCA1872205683MUSKc.2234del (p.Gly745AlafsTer?)
c.1976del (p.Gly659AlafsTer?)
c.2210del (p.Gly737AlafsTer?)
c.1946del (p.Gly649AlafsTer?)
c.2264del (p.Gly755AlafsTer?)
c.2240del (p.Gly747AlafsTer?)
c.2294del (p.Gly765AlafsTer?)
c.998del (p.Gly333AlafsTer?)
c.2000del (p.Gly667AlafsTer?)
c.974del (p.Gly325AlafsTer?)
 dbSNP
9g.110800612G>ACA374478748MUSKc.2234G>A (p.Gly745Asp)
c.1976G>A (p.Gly659Asp)
c.2210G>A (p.Gly737Asp)
c.1946G>A (p.Gly649Asp)
c.2264G>A (p.Gly755Asp)
c.2240G>A (p.Gly747Asp)
c.2294G>A (p.Gly765Asp)
c.998G>A (p.Gly333Asp)
c.2000G>A (p.Gly667Asp)
c.974G>A (p.Gly325Asp)
9g.110800612G>CCA374478750MUSKc.2234G>C (p.Gly745Ala)
c.1976G>C (p.Gly659Ala)
c.2210G>C (p.Gly737Ala)
c.1946G>C (p.Gly649Ala)
c.2264G>C (p.Gly755Ala)
c.2240G>C (p.Gly747Ala)
c.2294G>C (p.Gly765Ala)
c.998G>C (p.Gly333Ala)
c.2000G>C (p.Gly667Ala)
c.974G>C (p.Gly325Ala)
9g.110800612G>TCA374478752MUSKc.2234G>T (p.Gly745Val)
c.1976G>T (p.Gly659Val)
c.2210G>T (p.Gly737Val)
c.1946G>T (p.Gly649Val)
c.2264G>T (p.Gly755Val)
c.2240G>T (p.Gly747Val)
c.2294G>T (p.Gly765Val)
c.998G>T (p.Gly333Val)
c.2000G>T (p.Gly667Val)
c.974G>T (p.Gly325Val)
9g.110800613C>ACA466900906MUSKc.2235C>A (p.Gly745=)
c.1977C>A (p.Gly659=)
c.2211C>A (p.Gly737=)
c.1947C>A (p.Gly649=)
c.2265C>A (p.Gly755=)
c.2241C>A (p.Gly747=)
c.2295C>A (p.Gly765=)
c.999C>A (p.Gly333=)
c.2001C>A (p.Gly667=)
c.975C>A (p.Gly325=)
 dbSNP
9g.110800613C>GCA466900907MUSKc.2235C>G (p.Gly745=)
c.1977C>G (p.Gly659=)
c.2211C>G (p.Gly737=)
c.1947C>G (p.Gly649=)
c.2265C>G (p.Gly755=)
c.2241C>G (p.Gly747=)
c.2295C>G (p.Gly765=)
c.999C>G (p.Gly333=)
c.2001C>G (p.Gly667=)
c.975C>G (p.Gly325=)
9g.110800613C>TCA466900908MUSKc.2235C>T (p.Gly745=)
c.1977C>T (p.Gly659=)
c.2211C>T (p.Gly737=)
c.1947C>T (p.Gly649=)
c.2265C>T (p.Gly755=)
c.2241C>T (p.Gly747=)
c.2295C>T (p.Gly765=)
c.999C>T (p.Gly333=)
c.2001C>T (p.Gly667=)
c.975C>T (p.Gly325=)
9g.110800614C>ACA374478760MUSKc.2236C>A (p.Leu746Ile)
c.1978C>A (p.Leu660Ile)
c.2212C>A (p.Leu738Ile)
c.1948C>A (p.Leu650Ile)
c.2266C>A (p.Leu756Ile)
c.2242C>A (p.Leu748Ile)
c.2296C>A (p.Leu766Ile)
c.1000C>A (p.Leu334Ile)
c.2002C>A (p.Leu668Ile)
c.976C>A (p.Leu326Ile)
9g.110800614C>GCA374478755MUSKc.2236C>G (p.Leu746Val)
c.1978C>G (p.Leu660Val)
c.2212C>G (p.Leu738Val)
c.1948C>G (p.Leu650Val)
c.2266C>G (p.Leu756Val)
c.2242C>G (p.Leu748Val)
c.2296C>G (p.Leu766Val)
c.1000C>G (p.Leu334Val)
c.2002C>G (p.Leu668Val)
c.976C>G (p.Leu326Val)
9g.110800614C>TCA374478758MUSKc.2236C>T (p.Leu746Phe)
c.1978C>T (p.Leu660Phe)
c.2212C>T (p.Leu738Phe)
c.1948C>T (p.Leu650Phe)
c.2266C>T (p.Leu756Phe)
c.2242C>T (p.Leu748Phe)
c.2296C>T (p.Leu766Phe)
c.1000C>T (p.Leu334Phe)
c.2002C>T (p.Leu668Phe)
c.976C>T (p.Leu326Phe)
 gnomAD v4
9g.110800615T>ACA374478762MUSKc.2237T>A (p.Leu746His)
c.1979T>A (p.Leu660His)
c.2213T>A (p.Leu738His)
c.1949T>A (p.Leu650His)
c.2267T>A (p.Leu756His)
c.2243T>A (p.Leu748His)
c.2297T>A (p.Leu766His)
c.1001T>A (p.Leu334His)
c.2003T>A (p.Leu668His)
c.977T>A (p.Leu326His)
9g.110800615T>CCA374478764MUSKc.2237T>C (p.Leu746Pro)
c.1979T>C (p.Leu660Pro)
c.2213T>C (p.Leu738Pro)
c.1949T>C (p.Leu650Pro)
c.2267T>C (p.Leu756Pro)
c.2243T>C (p.Leu748Pro)
c.2297T>C (p.Leu766Pro)
c.1001T>C (p.Leu334Pro)
c.2003T>C (p.Leu668Pro)
c.977T>C (p.Leu326Pro)
9g.110800615T>GCA374478765MUSKc.2237T>G (p.Leu746Arg)
c.1979T>G (p.Leu660Arg)
c.2213T>G (p.Leu738Arg)
c.1949T>G (p.Leu650Arg)
c.2267T>G (p.Leu756Arg)
c.2243T>G (p.Leu748Arg)
c.2297T>G (p.Leu766Arg)
c.1001T>G (p.Leu334Arg)
c.2003T>G (p.Leu668Arg)
c.977T>G (p.Leu326Arg)
9g.110800616C>ACA466900909MUSKc.2238C>A (p.Leu746=)
c.1980C>A (p.Leu660=)
c.2214C>A (p.Leu738=)
c.1950C>A (p.Leu650=)
c.2268C>A (p.Leu756=)
c.2244C>A (p.Leu748=)
c.2298C>A (p.Leu766=)
c.1002C>A (p.Leu334=)
c.2004C>A (p.Leu668=)
c.978C>A (p.Leu326=)
9g.110800616C>GCA466900910MUSKc.2238C>G (p.Leu746=)
c.1980C>G (p.Leu660=)
c.2214C>G (p.Leu738=)
c.1950C>G (p.Leu650=)
c.2268C>G (p.Leu756=)
c.2244C>G (p.Leu748=)
c.2298C>G (p.Leu766=)
c.1002C>G (p.Leu334=)
c.2004C>G (p.Leu668=)
c.978C>G (p.Leu326=)
9g.110800616C>TCA466900911MUSKc.2238C>T (p.Leu746=)
c.1980C>T (p.Leu660=)
c.2214C>T (p.Leu738=)
c.1950C>T (p.Leu650=)
c.2268C>T (p.Leu756=)
c.2244C>T (p.Leu748=)
c.2298C>T (p.Leu766=)
c.1002C>T (p.Leu334=)
c.2004C>T (p.Leu668=)
c.978C>T (p.Leu326=)
 COSMIC COSMIC
9g.110800617T>ACA374478767MUSKc.2239T>A (p.Ser747Thr)
c.1981T>A (p.Ser661Thr)
c.2215T>A (p.Ser739Thr)
c.1951T>A (p.Ser651Thr)
c.2269T>A (p.Ser757Thr)
c.2245T>A (p.Ser749Thr)
c.2299T>A (p.Ser767Thr)
c.1003T>A (p.Ser335Thr)
c.2005T>A (p.Ser669Thr)
c.979T>A (p.Ser327Thr)
9g.110800617T>CCA374478768MUSKc.2239T>C (p.Ser747Pro)
c.1981T>C (p.Ser661Pro)
c.2215T>C (p.Ser739Pro)
c.1951T>C (p.Ser651Pro)
c.2269T>C (p.Ser757Pro)
c.2245T>C (p.Ser749Pro)
c.2299T>C (p.Ser767Pro)
c.1003T>C (p.Ser335Pro)
c.2005T>C (p.Ser669Pro)
c.979T>C (p.Ser327Pro)
9g.110800617T>GCA374478770MUSKc.2239T>G (p.Ser747Ala)
c.1981T>G (p.Ser661Ala)
c.2215T>G (p.Ser739Ala)
c.1951T>G (p.Ser651Ala)
c.2269T>G (p.Ser757Ala)
c.2245T>G (p.Ser749Ala)
c.2299T>G (p.Ser767Ala)
c.1003T>G (p.Ser335Ala)
c.2005T>G (p.Ser669Ala)
c.979T>G (p.Ser327Ala)
9g.110800618C>ACA374478772MUSKc.2240C>A (p.Ser747Tyr)
c.1982C>A (p.Ser661Tyr)
c.2216C>A (p.Ser739Tyr)
c.1952C>A (p.Ser651Tyr)
c.2270C>A (p.Ser757Tyr)
c.2246C>A (p.Ser749Tyr)
c.2300C>A (p.Ser767Tyr)
c.1004C>A (p.Ser335Tyr)
c.2006C>A (p.Ser669Tyr)
c.980C>A (p.Ser327Tyr)
9g.110800618C=CA1872205684MUSKc.2240C= (p.Ser747=)
c.1982C= (p.Ser661=)
c.2216C= (p.Ser739=)
c.1952C= (p.Ser651=)
c.2270C= (p.Ser757=)
c.2246C= (p.Ser749=)
c.2300C= (p.Ser767=)
c.1004C= (p.Ser335=)
c.2006C= (p.Ser669=)
c.980C= (p.Ser327=)
9g.110800618C>GCA198363617MUSKc.2240C>G (p.Ser747Cys)
c.1982C>G (p.Ser661Cys)
c.2216C>G (p.Ser739Cys)
c.1952C>G (p.Ser651Cys)
c.2270C>G (p.Ser757Cys)
c.2246C>G (p.Ser749Cys)
c.2300C>G (p.Ser767Cys)
c.1004C>G (p.Ser335Cys)
c.2006C>G (p.Ser669Cys)
c.980C>G (p.Ser327Cys)
 dbSNP gnomAD v3 gnomAD v4
9g.110800618C>TCA374478782MUSKc.2240C>T (p.Ser747Phe)
c.1982C>T (p.Ser661Phe)
c.2216C>T (p.Ser739Phe)
c.1952C>T (p.Ser651Phe)
c.2270C>T (p.Ser757Phe)
c.2246C>T (p.Ser749Phe)
c.2300C>T (p.Ser767Phe)
c.1004C>T (p.Ser335Phe)
c.2006C>T (p.Ser669Phe)
c.980C>T (p.Ser327Phe)
9g.110800619C>ACA466900912MUSKc.2241C>A (p.Ser747=)
c.1983C>A (p.Ser661=)
c.2217C>A (p.Ser739=)
c.1953C>A (p.Ser651=)
c.2271C>A (p.Ser757=)
c.2247C>A (p.Ser749=)
c.2301C>A (p.Ser767=)
c.1005C>A (p.Ser335=)
c.2007C>A (p.Ser669=)
c.981C>A (p.Ser327=)
9g.110800619C>GCA466900913MUSKc.2241C>G (p.Ser747=)
c.1983C>G (p.Ser661=)
c.2217C>G (p.Ser739=)
c.1953C>G (p.Ser651=)
c.2271C>G (p.Ser757=)
c.2247C>G (p.Ser749=)
c.2301C>G (p.Ser767=)
c.1005C>G (p.Ser335=)
c.2007C>G (p.Ser669=)
c.981C>G (p.Ser327=)
9g.110800619C>TCA466900914MUSKc.2241C>T (p.Ser747=)
c.1983C>T (p.Ser661=)
c.2217C>T (p.Ser739=)
c.1953C>T (p.Ser651=)
c.2271C>T (p.Ser757=)
c.2247C>T (p.Ser749=)
c.2301C>T (p.Ser767=)
c.1005C>T (p.Ser335=)
c.2007C>T (p.Ser669=)
c.981C>T (p.Ser327=)
 gnomAD v4
9g.110800620A>CCA466900915MUSKc.2242A>C (p.Arg748=)
c.1984A>C (p.Arg662=)
c.2218A>C (p.Arg740=)
c.1954A>C (p.Arg652=)
c.2272A>C (p.Arg758=)
c.2248A>C (p.Arg750=)
c.2302A>C (p.Arg768=)
c.1006A>C (p.Arg336=)
c.2008A>C (p.Arg670=)
c.982A>C (p.Arg328=)
9g.110800620A>GCA374478785MUSKc.2242A>G (p.Arg748Gly)
c.1984A>G (p.Arg662Gly)
c.2218A>G (p.Arg740Gly)
c.1954A>G (p.Arg652Gly)
c.2272A>G (p.Arg758Gly)
c.2248A>G (p.Arg750Gly)
c.2302A>G (p.Arg768Gly)
c.1006A>G (p.Arg336Gly)
c.2008A>G (p.Arg670Gly)
c.982A>G (p.Arg328Gly)
9g.110800620A>TCA374478786MUSKc.2242A>T (p.Arg748Trp)
c.1984A>T (p.Arg662Trp)
c.2218A>T (p.Arg740Trp)
c.1954A>T (p.Arg652Trp)
c.2272A>T (p.Arg758Trp)
c.2248A>T (p.Arg750Trp)
c.2302A>T (p.Arg768Trp)
c.1006A>T (p.Arg336Trp)
c.2008A>T (p.Arg670Trp)
c.982A>T (p.Arg328Trp)
9g.110800621G>ACA5184592MUSKc.2243G>A (p.Arg748Lys)
c.1985G>A (p.Arg662Lys)
c.2219G>A (p.Arg740Lys)
c.1955G>A (p.Arg652Lys)
c.2273G>A (p.Arg758Lys)
c.2249G>A (p.Arg750Lys)
c.2303G>A (p.Arg768Lys)
c.1007G>A (p.Arg336Lys)
c.2009G>A (p.Arg670Lys)
c.983G>A (p.Arg328Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800621G>CCA374478790MUSKc.2243G>C (p.Arg748Thr)
c.1985G>C (p.Arg662Thr)
c.2219G>C (p.Arg740Thr)
c.1955G>C (p.Arg652Thr)
c.2273G>C (p.Arg758Thr)
c.2249G>C (p.Arg750Thr)
c.2303G>C (p.Arg768Thr)
c.1007G>C (p.Arg336Thr)
c.2009G>C (p.Arg670Thr)
c.983G>C (p.Arg328Thr)
9g.110800621G=CA1872205685MUSKc.2243G= (p.Arg748=)
c.1985G= (p.Arg662=)
c.2219G= (p.Arg740=)
c.1955G= (p.Arg652=)
c.2273G= (p.Arg758=)
c.2249G= (p.Arg750=)
c.2303G= (p.Arg768=)
c.1007G= (p.Arg336=)
c.2009G= (p.Arg670=)
c.983G= (p.Arg328=)
9g.110800621G>TCA374478787MUSKc.2243G>T (p.Arg748Met)
c.1985G>T (p.Arg662Met)
c.2219G>T (p.Arg740Met)
c.1955G>T (p.Arg652Met)
c.2273G>T (p.Arg758Met)
c.2249G>T (p.Arg750Met)
c.2303G>T (p.Arg768Met)
c.1007G>T (p.Arg336Met)
c.2009G>T (p.Arg670Met)
c.983G>T (p.Arg328Met)
9g.110800622G>ACA5184593MUSKc.2244G>A (p.Arg748=)
c.1986G>A (p.Arg662=)
c.2220G>A (p.Arg740=)
c.1956G>A (p.Arg652=)
c.2274G>A (p.Arg758=)
c.2250G>A (p.Arg750=)
c.2304G>A (p.Arg768=)
c.1008G>A (p.Arg336=)
c.2010G>A (p.Arg670=)
c.984G>A (p.Arg328=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800622G>CCA374478792MUSKc.2244G>C (p.Arg748Ser)
c.1986G>C (p.Arg662Ser)
c.2220G>C (p.Arg740Ser)
c.1956G>C (p.Arg652Ser)
c.2274G>C (p.Arg758Ser)
c.2250G>C (p.Arg750Ser)
c.2304G>C (p.Arg768Ser)
c.1008G>C (p.Arg336Ser)
c.2010G>C (p.Arg670Ser)
c.984G>C (p.Arg328Ser)
9g.110800622G=CA1872205686MUSKc.2244G= (p.Arg748=)
c.1986G= (p.Arg662=)
c.2220G= (p.Arg740=)
c.1956G= (p.Arg652=)
c.2274G= (p.Arg758=)
c.2250G= (p.Arg750=)
c.2304G= (p.Arg768=)
c.1008G= (p.Arg336=)
c.2010G= (p.Arg670=)
c.984G= (p.Arg328=)
9g.110800622G>TCA374478795MUSKc.2244G>T (p.Arg748Ser)
c.1986G>T (p.Arg662Ser)
c.2220G>T (p.Arg740Ser)
c.1956G>T (p.Arg652Ser)
c.2274G>T (p.Arg758Ser)
c.2250G>T (p.Arg750Ser)
c.2304G>T (p.Arg768Ser)
c.1008G>T (p.Arg336Ser)
c.2010G>T (p.Arg670Ser)
c.984G>T (p.Arg328Ser)
 dbSNP gnomAD v4
9g.110800623A=CA1872205687MUSKc.2245A= (p.Asn749=)
c.1987A= (p.Asn663=)
c.2221A= (p.Asn741=)
c.1957A= (p.Asn653=)
c.2275A= (p.Asn759=)
c.2251A= (p.Asn751=)
c.2305A= (p.Asn769=)
c.1009A= (p.Asn337=)
c.2011A= (p.Asn671=)
c.985A= (p.Asn329=)
9g.110800623A>CCA374478797MUSKc.2245A>C (p.Asn749His)
c.1987A>C (p.Asn663His)
c.2221A>C (p.Asn741His)
c.1957A>C (p.Asn653His)
c.2275A>C (p.Asn759His)
c.2251A>C (p.Asn751His)
c.2305A>C (p.Asn769His)
c.1009A>C (p.Asn337His)
c.2011A>C (p.Asn671His)
c.985A>C (p.Asn329His)
9g.110800623A>GCA374478798MUSKc.2245A>G (p.Asn749Asp)
c.1987A>G (p.Asn663Asp)
c.2221A>G (p.Asn741Asp)
c.1957A>G (p.Asn653Asp)
c.2275A>G (p.Asn759Asp)
c.2251A>G (p.Asn751Asp)
c.2305A>G (p.Asn769Asp)
c.1009A>G (p.Asn337Asp)
c.2011A>G (p.Asn671Asp)
c.985A>G (p.Asn329Asp)
 dbSNP gnomAD v2 gnomAD v4
9g.110800623A>TCA374478799MUSKc.2245A>T (p.Asn749Tyr)
c.1987A>T (p.Asn663Tyr)
c.2221A>T (p.Asn741Tyr)
c.1957A>T (p.Asn653Tyr)
c.2275A>T (p.Asn759Tyr)
c.2251A>T (p.Asn751Tyr)
c.2305A>T (p.Asn769Tyr)
c.1009A>T (p.Asn337Tyr)
c.2011A>T (p.Asn671Tyr)
c.985A>T (p.Asn329Tyr)
9g.110800624A=CA1872205688MUSKc.2246A= (p.Asn749=)
c.1988A= (p.Asn663=)
c.2222A= (p.Asn741=)
c.1958A= (p.Asn653=)
c.2276A= (p.Asn759=)
c.2252A= (p.Asn751=)
c.2306A= (p.Asn769=)
c.1010A= (p.Asn337=)
c.2012A= (p.Asn671=)
c.986A= (p.Asn329=)
9g.110800624A>CCA374478800MUSKc.2246A>C (p.Asn749Thr)
c.1988A>C (p.Asn663Thr)
c.2222A>C (p.Asn741Thr)
c.1958A>C (p.Asn653Thr)
c.2276A>C (p.Asn759Thr)
c.2252A>C (p.Asn751Thr)
c.2306A>C (p.Asn769Thr)
c.1010A>C (p.Asn337Thr)
c.2012A>C (p.Asn671Thr)
c.986A>C (p.Asn329Thr)
9g.110800624A>GCA5184594MUSKc.2246A>G (p.Asn749Ser)
c.1988A>G (p.Asn663Ser)
c.2222A>G (p.Asn741Ser)
c.1958A>G (p.Asn653Ser)
c.2276A>G (p.Asn759Ser)
c.2252A>G (p.Asn751Ser)
c.2306A>G (p.Asn769Ser)
c.1010A>G (p.Asn337Ser)
c.2012A>G (p.Asn671Ser)
c.986A>G (p.Asn329Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800624A>TCA374478801MUSKc.2246A>T (p.Asn749Ile)
c.1988A>T (p.Asn663Ile)
c.2222A>T (p.Asn741Ile)
c.1958A>T (p.Asn653Ile)
c.2276A>T (p.Asn759Ile)
c.2252A>T (p.Asn751Ile)
c.2306A>T (p.Asn769Ile)
c.1010A>T (p.Asn337Ile)
c.2012A>T (p.Asn671Ile)
c.986A>T (p.Asn329Ile)
9g.110800625C>ACA374478803MUSKc.2247C>A (p.Asn749Lys)
c.1989C>A (p.Asn663Lys)
c.2223C>A (p.Asn741Lys)
c.1959C>A (p.Asn653Lys)
c.2277C>A (p.Asn759Lys)
c.2253C>A (p.Asn751Lys)
c.2307C>A (p.Asn769Lys)
c.1011C>A (p.Asn337Lys)
c.2013C>A (p.Asn671Lys)
c.987C>A (p.Asn329Lys)
9g.110800625C>GCA374478804MUSKc.2247C>G (p.Asn749Lys)
c.1989C>G (p.Asn663Lys)
c.2223C>G (p.Asn741Lys)
c.1959C>G (p.Asn653Lys)
c.2277C>G (p.Asn759Lys)
c.2253C>G (p.Asn751Lys)
c.2307C>G (p.Asn769Lys)
c.1011C>G (p.Asn337Lys)
c.2013C>G (p.Asn671Lys)
c.987C>G (p.Asn329Lys)
9g.110800625C>TCA466900932MUSKc.2247C>T (p.Asn749=)
c.1989C>T (p.Asn663=)
c.2223C>T (p.Asn741=)
c.1959C>T (p.Asn653=)
c.2277C>T (p.Asn759=)
c.2253C>T (p.Asn751=)
c.2307C>T (p.Asn769=)
c.1011C>T (p.Asn337=)
c.2013C>T (p.Asn671=)
c.987C>T (p.Asn329=)
 gnomAD v4
9g.110800626A=CA1872205689MUSKc.2248A= (p.Ile750=)
c.1990A= (p.Ile664=)
c.2224A= (p.Ile742=)
c.1960A= (p.Ile654=)
c.2278A= (p.Ile760=)
c.2254A= (p.Ile752=)
c.2308A= (p.Ile770=)
c.1012A= (p.Ile338=)
c.2014A= (p.Ile672=)
c.988A= (p.Ile330=)
9g.110800626A>CCA374478807MUSKc.2248A>C (p.Ile750Leu)
c.1990A>C (p.Ile664Leu)
c.2224A>C (p.Ile742Leu)
c.1960A>C (p.Ile654Leu)
c.2278A>C (p.Ile760Leu)
c.2254A>C (p.Ile752Leu)
c.2308A>C (p.Ile770Leu)
c.1012A>C (p.Ile338Leu)
c.2014A>C (p.Ile672Leu)
c.988A>C (p.Ile330Leu)
9g.110800626A>GCA374478808MUSKc.2248A>G (p.Ile750Val)
c.1990A>G (p.Ile664Val)
c.2224A>G (p.Ile742Val)
c.1960A>G (p.Ile654Val)
c.2278A>G (p.Ile760Val)
c.2254A>G (p.Ile752Val)
c.2308A>G (p.Ile770Val)
c.1012A>G (p.Ile338Val)
c.2014A>G (p.Ile672Val)
c.988A>G (p.Ile330Val)
9g.110800626A>TCA198363635MUSKc.2248A>T (p.Ile750Phe)
c.1990A>T (p.Ile664Phe)
c.2224A>T (p.Ile742Phe)
c.1960A>T (p.Ile654Phe)
c.2278A>T (p.Ile760Phe)
c.2254A>T (p.Ile752Phe)
c.2308A>T (p.Ile770Phe)
c.1012A>T (p.Ile338Phe)
c.2014A>T (p.Ile672Phe)
c.988A>T (p.Ile330Phe)
 dbSNP
9g.110800627T>ACA374478816MUSKc.2249T>A (p.Ile750Asn)
c.1991T>A (p.Ile664Asn)
c.2225T>A (p.Ile742Asn)
c.1961T>A (p.Ile654Asn)
c.2279T>A (p.Ile760Asn)
c.2255T>A (p.Ile752Asn)
c.2309T>A (p.Ile770Asn)
c.1013T>A (p.Ile338Asn)
c.2015T>A (p.Ile672Asn)
c.989T>A (p.Ile330Asn)
 ClinVar dbSNP
9g.110800627T>CCA5184595MUSKc.2249T>C (p.Ile750Thr)
c.1991T>C (p.Ile664Thr)
c.2225T>C (p.Ile742Thr)
c.1961T>C (p.Ile654Thr)
c.2279T>C (p.Ile760Thr)
c.2255T>C (p.Ile752Thr)
c.2309T>C (p.Ile770Thr)
c.1013T>C (p.Ile338Thr)
c.2015T>C (p.Ile672Thr)
c.989T>C (p.Ile330Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800627T>GCA374478815MUSKc.2249T>G (p.Ile750Ser)
c.1991T>G (p.Ile664Ser)
c.2225T>G (p.Ile742Ser)
c.1961T>G (p.Ile654Ser)
c.2279T>G (p.Ile760Ser)
c.2255T>G (p.Ile752Ser)
c.2309T>G (p.Ile770Ser)
c.1013T>G (p.Ile338Ser)
c.2015T>G (p.Ile672Ser)
c.989T>G (p.Ile330Ser)
9g.110800627T=CA1872205690MUSKc.2249T= (p.Ile750=)
c.1991T= (p.Ile664=)
c.2225T= (p.Ile742=)
c.1961T= (p.Ile654=)
c.2279T= (p.Ile760=)
c.2255T= (p.Ile752=)
c.2309T= (p.Ile770=)
c.1013T= (p.Ile338=)
c.2015T= (p.Ile672=)
c.989T= (p.Ile330=)
9g.110800628C>ACA466900935MUSKc.2250C>A (p.Ile750=)
c.1992C>A (p.Ile664=)
c.2226C>A (p.Ile742=)
c.1962C>A (p.Ile654=)
c.2280C>A (p.Ile760=)
c.2256C>A (p.Ile752=)
c.2310C>A (p.Ile770=)
c.1014C>A (p.Ile338=)
c.2016C>A (p.Ile672=)
c.990C>A (p.Ile330=)
9g.110800628C>GCA374478818MUSKc.2250C>G (p.Ile750Met)
c.1992C>G (p.Ile664Met)
c.2226C>G (p.Ile742Met)
c.1962C>G (p.Ile654Met)
c.2280C>G (p.Ile760Met)
c.2256C>G (p.Ile752Met)
c.2310C>G (p.Ile770Met)
c.1014C>G (p.Ile338Met)
c.2016C>G (p.Ile672Met)
c.990C>G (p.Ile330Met)
9g.110800628C>TCA466900936MUSKc.2250C>T (p.Ile750=)
c.1992C>T (p.Ile664=)
c.2226C>T (p.Ile742=)
c.1962C>T (p.Ile654=)
c.2280C>T (p.Ile760=)
c.2256C>T (p.Ile752=)
c.2310C>T (p.Ile770=)
c.1014C>T (p.Ile338=)
c.2016C>T (p.Ile672=)
c.990C>T (p.Ile330=)
 gnomAD v4
9g.110800633_110800644delCA2691186946MUSKc.2255_2266del (p.Ser752_Tyr755del)
c.1997_2008del (p.Ser666_Tyr669del)
c.2231_2242del (p.Ser744_Tyr747del)
c.1967_1978del (p.Ser656_Tyr659del)
c.2285_2296del (p.Ser762_Tyr765del)
c.2261_2272del (p.Ser754_Tyr757del)
c.2315_2326del (p.Ser772_Tyr775del)
c.1019_1030del (p.Ser340_Tyr343del)
c.2021_2032del (p.Ser674_Tyr677del)
c.995_1006del (p.Ser332_Tyr335del)
 gnomAD v4
9g.110800629T>ACA374478821MUSKc.2251T>A (p.Tyr751Asn)
c.1993T>A (p.Tyr665Asn)
c.2227T>A (p.Tyr743Asn)
c.1963T>A (p.Tyr655Asn)
c.2281T>A (p.Tyr761Asn)
c.2257T>A (p.Tyr753Asn)
c.2311T>A (p.Tyr771Asn)
c.1015T>A (p.Tyr339Asn)
c.2017T>A (p.Tyr673Asn)
c.991T>A (p.Tyr331Asn)
9g.110800629T>CCA374478831MUSKc.2251T>C (p.Tyr751His)
c.1993T>C (p.Tyr665His)
c.2227T>C (p.Tyr743His)
c.1963T>C (p.Tyr655His)
c.2281T>C (p.Tyr761His)
c.2257T>C (p.Tyr753His)
c.2311T>C (p.Tyr771His)
c.1015T>C (p.Tyr339His)
c.2017T>C (p.Tyr673His)
c.991T>C (p.Tyr331His)
 ClinVar
9g.110800629T>GCA374478834MUSKc.2251T>G (p.Tyr751Asp)
c.1993T>G (p.Tyr665Asp)
c.2227T>G (p.Tyr743Asp)
c.1963T>G (p.Tyr655Asp)
c.2281T>G (p.Tyr761Asp)
c.2257T>G (p.Tyr753Asp)
c.2311T>G (p.Tyr771Asp)
c.1015T>G (p.Tyr339Asp)
c.2017T>G (p.Tyr673Asp)
c.991T>G (p.Tyr331Asp)
9g.110800630A>CCA374478836MUSKc.2252A>C (p.Tyr751Ser)
c.1994A>C (p.Tyr665Ser)
c.2228A>C (p.Tyr743Ser)
c.1964A>C (p.Tyr655Ser)
c.2282A>C (p.Tyr761Ser)
c.2258A>C (p.Tyr753Ser)
c.2312A>C (p.Tyr771Ser)
c.1016A>C (p.Tyr339Ser)
c.2018A>C (p.Tyr673Ser)
c.992A>C (p.Tyr331Ser)
9g.110800630A>GCA374478839MUSKc.2252A>G (p.Tyr751Cys)
c.1994A>G (p.Tyr665Cys)
c.2228A>G (p.Tyr743Cys)
c.1964A>G (p.Tyr655Cys)
c.2282A>G (p.Tyr761Cys)
c.2258A>G (p.Tyr753Cys)
c.2312A>G (p.Tyr771Cys)
c.1016A>G (p.Tyr339Cys)
c.2018A>G (p.Tyr673Cys)
c.992A>G (p.Tyr331Cys)
9g.110800630A>TCA374478841MUSKc.2252A>T (p.Tyr751Phe)
c.1994A>T (p.Tyr665Phe)
c.2228A>T (p.Tyr743Phe)
c.1964A>T (p.Tyr655Phe)
c.2282A>T (p.Tyr761Phe)
c.2258A>T (p.Tyr753Phe)
c.2312A>T (p.Tyr771Phe)
c.1016A>T (p.Tyr339Phe)
c.2018A>T (p.Tyr673Phe)
c.992A>T (p.Tyr331Phe)
9g.110800631C>ACA374478842MUSKc.2253C>A (p.Tyr751Ter)
c.1995C>A (p.Tyr665Ter)
c.2229C>A (p.Tyr743Ter)
c.1965C>A (p.Tyr655Ter)
c.2283C>A (p.Tyr761Ter)
c.2259C>A (p.Tyr753Ter)
c.2313C>A (p.Tyr771Ter)
c.1017C>A (p.Tyr339Ter)
c.2019C>A (p.Tyr673Ter)
c.993C>A (p.Tyr331Ter)
9g.110800631C>GCA374478843MUSKc.2253C>G (p.Tyr751Ter)
c.1995C>G (p.Tyr665Ter)
c.2229C>G (p.Tyr743Ter)
c.1965C>G (p.Tyr655Ter)
c.2283C>G (p.Tyr761Ter)
c.2259C>G (p.Tyr753Ter)
c.2313C>G (p.Tyr771Ter)
c.1017C>G (p.Tyr339Ter)
c.2019C>G (p.Tyr673Ter)
c.993C>G (p.Tyr331Ter)
9g.110800631C>TCA466900943MUSKc.2253C>T (p.Tyr751=)
c.1995C>T (p.Tyr665=)
c.2229C>T (p.Tyr743=)
c.1965C>T (p.Tyr655=)
c.2283C>T (p.Tyr761=)
c.2259C>T (p.Tyr753=)
c.2313C>T (p.Tyr771=)
c.1017C>T (p.Tyr339=)
c.2019C>T (p.Tyr673=)
c.993C>T (p.Tyr331=)
9g.110800632T>ACA374478844MUSKc.2254T>A (p.Ser752Thr)
c.1996T>A (p.Ser666Thr)
c.2230T>A (p.Ser744Thr)
c.1966T>A (p.Ser656Thr)
c.2284T>A (p.Ser762Thr)
c.2260T>A (p.Ser754Thr)
c.2314T>A (p.Ser772Thr)
c.1018T>A (p.Ser340Thr)
c.2020T>A (p.Ser674Thr)
c.994T>A (p.Ser332Thr)
9g.110800632T>CCA374478845MUSKc.2254T>C (p.Ser752Pro)
c.1996T>C (p.Ser666Pro)
c.2230T>C (p.Ser744Pro)
c.1966T>C (p.Ser656Pro)
c.2284T>C (p.Ser762Pro)
c.2260T>C (p.Ser754Pro)
c.2314T>C (p.Ser772Pro)
c.1018T>C (p.Ser340Pro)
c.2020T>C (p.Ser674Pro)
c.994T>C (p.Ser332Pro)
9g.110800632T>GCA374478846MUSKc.2254T>G (p.Ser752Ala)
c.1996T>G (p.Ser666Ala)
c.2230T>G (p.Ser744Ala)
c.1966T>G (p.Ser656Ala)
c.2284T>G (p.Ser762Ala)
c.2260T>G (p.Ser754Ala)
c.2314T>G (p.Ser772Ala)
c.1018T>G (p.Ser340Ala)
c.2020T>G (p.Ser674Ala)
c.994T>G (p.Ser332Ala)
9g.110800633C>ACA374478853MUSKc.2255C>A (p.Ser752Ter)
c.1997C>A (p.Ser666Ter)
c.2231C>A (p.Ser744Ter)
c.1967C>A (p.Ser656Ter)
c.2285C>A (p.Ser762Ter)
c.2261C>A (p.Ser754Ter)
c.2315C>A (p.Ser772Ter)
c.1019C>A (p.Ser340Ter)
c.2021C>A (p.Ser674Ter)
c.995C>A (p.Ser332Ter)
9g.110800633C=CA1872205691MUSKc.2255C= (p.Ser752=)
c.1997C= (p.Ser666=)
c.2231C= (p.Ser744=)
c.1967C= (p.Ser656=)
c.2285C= (p.Ser762=)
c.2261C= (p.Ser754=)
c.2315C= (p.Ser772=)
c.1019C= (p.Ser340=)
c.2021C= (p.Ser674=)
c.995C= (p.Ser332=)
9g.110800633C>GCA374478850MUSKc.2255C>G (p.Ser752Ter)
c.1997C>G (p.Ser666Ter)
c.2231C>G (p.Ser744Ter)
c.1967C>G (p.Ser656Ter)
c.2285C>G (p.Ser762Ter)
c.2261C>G (p.Ser754Ter)
c.2315C>G (p.Ser772Ter)
c.1019C>G (p.Ser340Ter)
c.2021C>G (p.Ser674Ter)
c.995C>G (p.Ser332Ter)
9g.110800633C>TCA374478848MUSKc.2255C>T (p.Ser752Leu)
c.1997C>T (p.Ser666Leu)
c.2231C>T (p.Ser744Leu)
c.1967C>T (p.Ser656Leu)
c.2285C>T (p.Ser762Leu)
c.2261C>T (p.Ser754Leu)
c.2315C>T (p.Ser772Leu)
c.1019C>T (p.Ser340Leu)
c.2021C>T (p.Ser674Leu)
c.995C>T (p.Ser332Leu)
 dbSNP gnomAD v2 gnomAD v4
9g.110800634A=CA1872205692MUSKc.2256A= (p.Ser752=)
c.1998A= (p.Ser666=)
c.2232A= (p.Ser744=)
c.1968A= (p.Ser656=)
c.2286A= (p.Ser762=)
c.2262A= (p.Ser754=)
c.2316A= (p.Ser772=)
c.1020A= (p.Ser340=)
c.2022A= (p.Ser674=)
c.996A= (p.Ser332=)
9g.110800634A>CCA466900945MUSKc.2256A>C (p.Ser752=)
c.1998A>C (p.Ser666=)
c.2232A>C (p.Ser744=)
c.1968A>C (p.Ser656=)
c.2286A>C (p.Ser762=)
c.2262A>C (p.Ser754=)
c.2316A>C (p.Ser772=)
c.1020A>C (p.Ser340=)
c.2022A>C (p.Ser674=)
c.996A>C (p.Ser332=)
9g.110800634A>GCA466900946MUSKc.2256A>G (p.Ser752=)
c.1998A>G (p.Ser666=)
c.2232A>G (p.Ser744=)
c.1968A>G (p.Ser656=)
c.2286A>G (p.Ser762=)
c.2262A>G (p.Ser754=)
c.2316A>G (p.Ser772=)
c.1020A>G (p.Ser340=)
c.2022A>G (p.Ser674=)
c.996A>G (p.Ser332=)
9g.110800634A>TCA5184596MUSKc.2256A>T (p.Ser752=)
c.1998A>T (p.Ser666=)
c.2232A>T (p.Ser744=)
c.1968A>T (p.Ser656=)
c.2286A>T (p.Ser762=)
c.2262A>T (p.Ser754=)
c.2316A>T (p.Ser772=)
c.1020A>T (p.Ser340=)
c.2022A>T (p.Ser674=)
c.996A>T (p.Ser332=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800635G>ACA374478862MUSKc.2257G>A (p.Ala753Thr)
c.1999G>A (p.Ala667Thr)
c.2233G>A (p.Ala745Thr)
c.1969G>A (p.Ala657Thr)
c.2287G>A (p.Ala763Thr)
c.2263G>A (p.Ala755Thr)
c.2317G>A (p.Ala773Thr)
c.1021G>A (p.Ala341Thr)
c.2023G>A (p.Ala675Thr)
c.997G>A (p.Ala333Thr)
9g.110800635G>CCA374478863MUSKc.2257G>C (p.Ala753Pro)
c.1999G>C (p.Ala667Pro)
c.2233G>C (p.Ala745Pro)
c.1969G>C (p.Ala657Pro)
c.2287G>C (p.Ala763Pro)
c.2263G>C (p.Ala755Pro)
c.2317G>C (p.Ala773Pro)
c.1021G>C (p.Ala341Pro)
c.2023G>C (p.Ala675Pro)
c.997G>C (p.Ala333Pro)
9g.110800635G>TCA374478864MUSKc.2257G>T (p.Ala753Ser)
c.1999G>T (p.Ala667Ser)
c.2233G>T (p.Ala745Ser)
c.1969G>T (p.Ala657Ser)
c.2287G>T (p.Ala763Ser)
c.2263G>T (p.Ala755Ser)
c.2317G>T (p.Ala773Ser)
c.1021G>T (p.Ala341Ser)
c.2023G>T (p.Ala675Ser)
c.997G>T (p.Ala333Ser)
9g.110800636C>ACA374478866MUSKc.2258C>A (p.Ala753Glu)
c.2000C>A (p.Ala667Glu)
c.2234C>A (p.Ala745Glu)
c.1970C>A (p.Ala657Glu)
c.2288C>A (p.Ala763Glu)
c.2264C>A (p.Ala755Glu)
c.2318C>A (p.Ala773Glu)
c.1022C>A (p.Ala341Glu)
c.2024C>A (p.Ala675Glu)
c.998C>A (p.Ala333Glu)
9g.110800636C>GCA374478867MUSKc.2258C>G (p.Ala753Gly)
c.2000C>G (p.Ala667Gly)
c.2234C>G (p.Ala745Gly)
c.1970C>G (p.Ala657Gly)
c.2288C>G (p.Ala763Gly)
c.2264C>G (p.Ala755Gly)
c.2318C>G (p.Ala773Gly)
c.1022C>G (p.Ala341Gly)
c.2024C>G (p.Ala675Gly)
c.998C>G (p.Ala333Gly)
9g.110800636C>TCA374478870MUSKc.2258C>T (p.Ala753Val)
c.2000C>T (p.Ala667Val)
c.2234C>T (p.Ala745Val)
c.1970C>T (p.Ala657Val)
c.2288C>T (p.Ala763Val)
c.2264C>T (p.Ala755Val)
c.2318C>T (p.Ala773Val)
c.1022C>T (p.Ala341Val)
c.2024C>T (p.Ala675Val)
c.998C>T (p.Ala333Val)
9g.110800637A>CCA466900949MUSKc.2259A>C (p.Ala753=)
c.2001A>C (p.Ala667=)
c.2235A>C (p.Ala745=)
c.1971A>C (p.Ala657=)
c.2289A>C (p.Ala763=)
c.2265A>C (p.Ala755=)
c.2319A>C (p.Ala773=)
c.1023A>C (p.Ala341=)
c.2025A>C (p.Ala675=)
c.999A>C (p.Ala333=)
 gnomAD v4
9g.110800637A>GCA466900950MUSKc.2259A>G (p.Ala753=)
c.2001A>G (p.Ala667=)
c.2235A>G (p.Ala745=)
c.1971A>G (p.Ala657=)
c.2289A>G (p.Ala763=)
c.2265A>G (p.Ala755=)
c.2319A>G (p.Ala773=)
c.1023A>G (p.Ala341=)
c.2025A>G (p.Ala675=)
c.999A>G (p.Ala333=)
9g.110800637A>TCA466900951MUSKc.2259A>T (p.Ala753=)
c.2001A>T (p.Ala667=)
c.2235A>T (p.Ala745=)
c.1971A>T (p.Ala657=)
c.2289A>T (p.Ala763=)
c.2265A>T (p.Ala755=)
c.2319A>T (p.Ala773=)
c.1023A>T (p.Ala341=)
c.2025A>T (p.Ala675=)
c.999A>T (p.Ala333=)
9g.110800638G>ACA374478875MUSKc.2260G>A (p.Asp754Asn)
c.2002G>A (p.Asp668Asn)
c.2236G>A (p.Asp746Asn)
c.1972G>A (p.Asp658Asn)
c.2290G>A (p.Asp764Asn)
c.2266G>A (p.Asp756Asn)
c.2320G>A (p.Asp774Asn)
c.1024G>A (p.Asp342Asn)
c.2026G>A (p.Asp676Asn)
c.1000G>A (p.Asp334Asn)
 ClinVar dbSNP
9g.110800638G>CCA374478882MUSKc.2260G>C (p.Asp754His)
c.2002G>C (p.Asp668His)
c.2236G>C (p.Asp746His)
c.1972G>C (p.Asp658His)
c.2290G>C (p.Asp764His)
c.2266G>C (p.Asp756His)
c.2320G>C (p.Asp774His)
c.1024G>C (p.Asp342His)
c.2026G>C (p.Asp676His)
c.1000G>C (p.Asp334His)
9g.110800638G=CA1872205694MUSKc.2260G= (p.Asp754=)
c.2002G= (p.Asp668=)
c.2236G= (p.Asp746=)
c.1972G= (p.Asp658=)
c.2290G= (p.Asp764=)
c.2266G= (p.Asp756=)
c.2320G= (p.Asp774=)
c.1024G= (p.Asp342=)
c.2026G= (p.Asp676=)
c.1000G= (p.Asp334=)
9g.110800638G>TCA374478883MUSKc.2260G>T (p.Asp754Tyr)
c.2002G>T (p.Asp668Tyr)
c.2236G>T (p.Asp746Tyr)
c.1972G>T (p.Asp658Tyr)
c.2290G>T (p.Asp764Tyr)
c.2266G>T (p.Asp756Tyr)
c.2320G>T (p.Asp774Tyr)
c.1024G>T (p.Asp342Tyr)
c.2026G>T (p.Asp676Tyr)
c.1000G>T (p.Asp334Tyr)
9g.110800638_110800644delinsGACTACTCA1872205693MUSKc.2260_2266delinsGACTACT (p.Asp754=)
c.2002_2008delinsGACTACT (p.Asp668=)
c.2236_2242delinsGACTACT (p.Asp746=)
c.1972_1978delinsGACTACT (p.Asp658=)
c.2290_2296delinsGACTACT (p.Asp764=)
c.2266_2272delinsGACTACT (p.Asp756=)
c.2320_2326delinsGACTACT (p.Asp774=)
c.1024_1030delinsGACTACT (p.Asp342=)
c.2026_2032delinsGACTACT (p.Asp676=)
c.1000_1006delinsGACTACT (p.Asp334=)
9g.110800639A>CCA374478885MUSKc.2261A>C (p.Asp754Ala)
c.2003A>C (p.Asp668Ala)
c.2237A>C (p.Asp746Ala)
c.1973A>C (p.Asp658Ala)
c.2291A>C (p.Asp764Ala)
c.2267A>C (p.Asp756Ala)
c.2321A>C (p.Asp774Ala)
c.1025A>C (p.Asp342Ala)
c.2027A>C (p.Asp676Ala)
c.1001A>C (p.Asp334Ala)
9g.110800639A>GCA374478887MUSKc.2261A>G (p.Asp754Gly)
c.2003A>G (p.Asp668Gly)
c.2237A>G (p.Asp746Gly)
c.1973A>G (p.Asp658Gly)
c.2291A>G (p.Asp764Gly)
c.2267A>G (p.Asp756Gly)
c.2321A>G (p.Asp774Gly)
c.1025A>G (p.Asp342Gly)
c.2027A>G (p.Asp676Gly)
c.1001A>G (p.Asp334Gly)
9g.110800639A>TCA374478888MUSKc.2261A>T (p.Asp754Val)
c.2003A>T (p.Asp668Val)
c.2237A>T (p.Asp746Val)
c.1973A>T (p.Asp658Val)
c.2291A>T (p.Asp764Val)
c.2267A>T (p.Asp756Val)
c.2321A>T (p.Asp774Val)
c.1025A>T (p.Asp342Val)
c.2027A>T (p.Asp676Val)
c.1001A>T (p.Asp334Val)
9g.110800641_110800646delCA915947123MUSKc.2263_2268del (p.Tyr755_Tyr756del)
c.2005_2010del (p.Tyr669_Tyr670del)
c.2239_2244del (p.Tyr747_Tyr748del)
c.1975_1980del (p.Tyr659_Tyr660del)
c.2293_2298del (p.Tyr765_Tyr766del)
c.2269_2274del (p.Tyr757_Tyr758del)
c.2323_2328del (p.Tyr775_Tyr776del)
c.1027_1032del (p.Tyr343_Tyr344del)
c.2029_2034del (p.Tyr677_Tyr678del)
c.1003_1008del (p.Tyr335_Tyr336del)
 ClinVar dbSNP
9g.110800640C>ACA374478891MUSKc.2262C>A (p.Asp754Glu)
c.2004C>A (p.Asp668Glu)
c.2238C>A (p.Asp746Glu)
c.1974C>A (p.Asp658Glu)
c.2292C>A (p.Asp764Glu)
c.2268C>A (p.Asp756Glu)
c.2322C>A (p.Asp774Glu)
c.1026C>A (p.Asp342Glu)
c.2028C>A (p.Asp676Glu)
c.1002C>A (p.Asp334Glu)
9g.110800640C=CA1872205695MUSKc.2262C= (p.Asp754=)
c.2004C= (p.Asp668=)
c.2238C= (p.Asp746=)
c.1974C= (p.Asp658=)
c.2292C= (p.Asp764=)
c.2268C= (p.Asp756=)
c.2322C= (p.Asp774=)
c.1026C= (p.Asp342=)
c.2028C= (p.Asp676=)
c.1002C= (p.Asp334=)
9g.110800640C>GCA374478889MUSKc.2262C>G (p.Asp754Glu)
c.2004C>G (p.Asp668Glu)
c.2238C>G (p.Asp746Glu)
c.1974C>G (p.Asp658Glu)
c.2292C>G (p.Asp764Glu)
c.2268C>G (p.Asp756Glu)
c.2322C>G (p.Asp774Glu)
c.1026C>G (p.Asp342Glu)
c.2028C>G (p.Asp676Glu)
c.1002C>G (p.Asp334Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.110800640C>TCA198363648MUSKc.2262C>T (p.Asp754=)
c.2004C>T (p.Asp668=)
c.2238C>T (p.Asp746=)
c.1974C>T (p.Asp658=)
c.2292C>T (p.Asp764=)
c.2268C>T (p.Asp756=)
c.2322C>T (p.Asp774=)
c.1026C>T (p.Asp342=)
c.2028C>T (p.Asp676=)
c.1002C>T (p.Asp334=)
 dbSNP gnomAD v3 gnomAD v4
9g.110800641T>ACA374478893MUSKc.2263T>A (p.Tyr755Asn)
c.2005T>A (p.Tyr669Asn)
c.2239T>A (p.Tyr747Asn)
c.1975T>A (p.Tyr659Asn)
c.2293T>A (p.Tyr765Asn)
c.2269T>A (p.Tyr757Asn)
c.2323T>A (p.Tyr775Asn)
c.1027T>A (p.Tyr343Asn)
c.2029T>A (p.Tyr677Asn)
c.1003T>A (p.Tyr335Asn)
9g.110800641T>CCA374478895MUSKc.2263T>C (p.Tyr755His)
c.2005T>C (p.Tyr669His)
c.2239T>C (p.Tyr747His)
c.1975T>C (p.Tyr659His)
c.2293T>C (p.Tyr765His)
c.2269T>C (p.Tyr757His)
c.2323T>C (p.Tyr775His)
c.1027T>C (p.Tyr343His)
c.2029T>C (p.Tyr677His)
c.1003T>C (p.Tyr335His)
 gnomAD v4
9g.110800641T>GCA374478897MUSKc.2263T>G (p.Tyr755Asp)
c.2005T>G (p.Tyr669Asp)
c.2239T>G (p.Tyr747Asp)
c.1975T>G (p.Tyr659Asp)
c.2293T>G (p.Tyr765Asp)
c.2269T>G (p.Tyr757Asp)
c.2323T>G (p.Tyr775Asp)
c.1027T>G (p.Tyr343Asp)
c.2029T>G (p.Tyr677Asp)
c.1003T>G (p.Tyr335Asp)
9g.110800642A>CCA374478899MUSKc.2264A>C (p.Tyr755Ser)
c.2006A>C (p.Tyr669Ser)
c.2240A>C (p.Tyr747Ser)
c.1976A>C (p.Tyr659Ser)
c.2294A>C (p.Tyr765Ser)
c.2270A>C (p.Tyr757Ser)
c.2324A>C (p.Tyr775Ser)
c.1028A>C (p.Tyr343Ser)
c.2030A>C (p.Tyr677Ser)
c.1004A>C (p.Tyr335Ser)
 gnomAD v4
9g.110800642A>GCA374478901MUSKc.2264A>G (p.Tyr755Cys)
c.2006A>G (p.Tyr669Cys)
c.2240A>G (p.Tyr747Cys)
c.1976A>G (p.Tyr659Cys)
c.2294A>G (p.Tyr765Cys)
c.2270A>G (p.Tyr757Cys)
c.2324A>G (p.Tyr775Cys)
c.1028A>G (p.Tyr343Cys)
c.2030A>G (p.Tyr677Cys)
c.1004A>G (p.Tyr335Cys)
9g.110800642A>TCA374478902MUSKc.2264A>T (p.Tyr755Phe)
c.2006A>T (p.Tyr669Phe)
c.2240A>T (p.Tyr747Phe)
c.1976A>T (p.Tyr659Phe)
c.2294A>T (p.Tyr765Phe)
c.2270A>T (p.Tyr757Phe)
c.2324A>T (p.Tyr775Phe)
c.1028A>T (p.Tyr343Phe)
c.2030A>T (p.Tyr677Phe)
c.1004A>T (p.Tyr335Phe)
9g.110800643C>ACA374478903MUSKc.2265C>A (p.Tyr755Ter)
c.2007C>A (p.Tyr669Ter)
c.2241C>A (p.Tyr747Ter)
c.1977C>A (p.Tyr659Ter)
c.2295C>A (p.Tyr765Ter)
c.2271C>A (p.Tyr757Ter)
c.2325C>A (p.Tyr775Ter)
c.1029C>A (p.Tyr343Ter)
c.2031C>A (p.Tyr677Ter)
c.1005C>A (p.Tyr335Ter)
9g.110800643C>GCA374478905MUSKc.2265C>G (p.Tyr755Ter)
c.2007C>G (p.Tyr669Ter)
c.2241C>G (p.Tyr747Ter)
c.1977C>G (p.Tyr659Ter)
c.2295C>G (p.Tyr765Ter)
c.2271C>G (p.Tyr757Ter)
c.2325C>G (p.Tyr775Ter)
c.1029C>G (p.Tyr343Ter)
c.2031C>G (p.Tyr677Ter)
c.1005C>G (p.Tyr335Ter)
9g.110800643C>TCA466900955MUSKc.2265C>T (p.Tyr755=)
c.2007C>T (p.Tyr669=)
c.2241C>T (p.Tyr747=)
c.1977C>T (p.Tyr659=)
c.2295C>T (p.Tyr765=)
c.2271C>T (p.Tyr757=)
c.2325C>T (p.Tyr775=)
c.1029C>T (p.Tyr343=)
c.2031C>T (p.Tyr677=)
c.1005C>T (p.Tyr335=)
9g.110800644T>ACA374478911MUSKc.2266T>A (p.Tyr756Asn)
c.2008T>A (p.Tyr670Asn)
c.2242T>A (p.Tyr748Asn)
c.1978T>A (p.Tyr660Asn)
c.2296T>A (p.Tyr766Asn)
c.2272T>A (p.Tyr758Asn)
c.2326T>A (p.Tyr776Asn)
c.1030T>A (p.Tyr344Asn)
c.2032T>A (p.Tyr678Asn)
c.1006T>A (p.Tyr336Asn)
 gnomAD v4
9g.110800644T>CCA374478914MUSKc.2266T>C (p.Tyr756His)
c.2008T>C (p.Tyr670His)
c.2242T>C (p.Tyr748His)
c.1978T>C (p.Tyr660His)
c.2296T>C (p.Tyr766His)
c.2272T>C (p.Tyr758His)
c.2326T>C (p.Tyr776His)
c.1030T>C (p.Tyr344His)
c.2032T>C (p.Tyr678His)
c.1006T>C (p.Tyr336His)
 gnomAD v4
9g.110800644T>GCA374478917MUSKc.2266T>G (p.Tyr756Asp)
c.2008T>G (p.Tyr670Asp)
c.2242T>G (p.Tyr748Asp)
c.1978T>G (p.Tyr660Asp)
c.2296T>G (p.Tyr766Asp)
c.2272T>G (p.Tyr758Asp)
c.2326T>G (p.Tyr776Asp)
c.1030T>G (p.Tyr344Asp)
c.2032T>G (p.Tyr678Asp)
c.1006T>G (p.Tyr336Asp)
9g.110800645A>CCA374478920MUSKc.2267A>C (p.Tyr756Ser)
c.2009A>C (p.Tyr670Ser)
c.2243A>C (p.Tyr748Ser)
c.1979A>C (p.Tyr660Ser)
c.2297A>C (p.Tyr766Ser)
c.2273A>C (p.Tyr758Ser)
c.2327A>C (p.Tyr776Ser)
c.1031A>C (p.Tyr344Ser)
c.2033A>C (p.Tyr678Ser)
c.1007A>C (p.Tyr336Ser)
9g.110800645A>GCA374478921MUSKc.2267A>G (p.Tyr756Cys)
c.2009A>G (p.Tyr670Cys)
c.2243A>G (p.Tyr748Cys)
c.1979A>G (p.Tyr660Cys)
c.2297A>G (p.Tyr766Cys)
c.2273A>G (p.Tyr758Cys)
c.2327A>G (p.Tyr776Cys)
c.1031A>G (p.Tyr344Cys)
c.2033A>G (p.Tyr678Cys)
c.1007A>G (p.Tyr336Cys)
 gnomAD v4
9g.110800645A>TCA374478924MUSKc.2267A>T (p.Tyr756Phe)
c.2009A>T (p.Tyr670Phe)
c.2243A>T (p.Tyr748Phe)
c.1979A>T (p.Tyr660Phe)
c.2297A>T (p.Tyr766Phe)
c.2273A>T (p.Tyr758Phe)
c.2327A>T (p.Tyr776Phe)
c.1031A>T (p.Tyr344Phe)
c.2033A>T (p.Tyr678Phe)
c.1007A>T (p.Tyr336Phe)
9g.110800646C>ACA374478929MUSKc.2268C>A (p.Tyr756Ter)
c.2010C>A (p.Tyr670Ter)
c.2244C>A (p.Tyr748Ter)
c.1980C>A (p.Tyr660Ter)
c.2298C>A (p.Tyr766Ter)
c.2274C>A (p.Tyr758Ter)
c.2328C>A (p.Tyr776Ter)
c.1032C>A (p.Tyr344Ter)
c.2034C>A (p.Tyr678Ter)
c.1008C>A (p.Tyr336Ter)
 dbSNP gnomAD v4
9g.110800646C=CA1872205696MUSKc.2268C= (p.Tyr756=)
c.2010C= (p.Tyr670=)
c.2244C= (p.Tyr748=)
c.1980C= (p.Tyr660=)
c.2298C= (p.Tyr766=)
c.2274C= (p.Tyr758=)
c.2328C= (p.Tyr776=)
c.1032C= (p.Tyr344=)
c.2034C= (p.Tyr678=)
c.1008C= (p.Tyr336=)
9g.110800646C>GCA374478931MUSKc.2268C>G (p.Tyr756Ter)
c.2010C>G (p.Tyr670Ter)
c.2244C>G (p.Tyr748Ter)
c.1980C>G (p.Tyr660Ter)
c.2298C>G (p.Tyr766Ter)
c.2274C>G (p.Tyr758Ter)
c.2328C>G (p.Tyr776Ter)
c.1032C>G (p.Tyr344Ter)
c.2034C>G (p.Tyr678Ter)
c.1008C>G (p.Tyr336Ter)
9g.110800646C>TCA466900957MUSKc.2268C>T (p.Tyr756=)
c.2010C>T (p.Tyr670=)
c.2244C>T (p.Tyr748=)
c.1980C>T (p.Tyr660=)
c.2298C>T (p.Tyr766=)
c.2274C>T (p.Tyr758=)
c.2328C>T (p.Tyr776=)
c.1032C>T (p.Tyr344=)
c.2034C>T (p.Tyr678=)
c.1008C>T (p.Tyr336=)
 gnomAD v4
9g.110800647A=CA1872205697MUSKc.2269A= (p.Lys757=)
c.2011A= (p.Lys671=)
c.2245A= (p.Lys749=)
c.1981A= (p.Lys661=)
c.2299A= (p.Lys767=)
c.2275A= (p.Lys759=)
c.2329A= (p.Lys777=)
c.1033A= (p.Lys345=)
c.2035A= (p.Lys679=)
c.1009A= (p.Lys337=)
9g.110800647A>CCA374478935MUSKc.2269A>C (p.Lys757Gln)
c.2011A>C (p.Lys671Gln)
c.2245A>C (p.Lys749Gln)
c.1981A>C (p.Lys661Gln)
c.2299A>C (p.Lys767Gln)
c.2275A>C (p.Lys759Gln)
c.2329A>C (p.Lys777Gln)
c.1033A>C (p.Lys345Gln)
c.2035A>C (p.Lys679Gln)
c.1009A>C (p.Lys337Gln)
 ClinVar
9g.110800647A>GCA374478940MUSKc.2269A>G (p.Lys757Glu)
c.2011A>G (p.Lys671Glu)
c.2245A>G (p.Lys749Glu)
c.1981A>G (p.Lys661Glu)
c.2299A>G (p.Lys767Glu)
c.2275A>G (p.Lys759Glu)
c.2329A>G (p.Lys777Glu)
c.1033A>G (p.Lys345Glu)
c.2035A>G (p.Lys679Glu)
c.1009A>G (p.Lys337Glu)
 dbSNP gnomAD v3 gnomAD v4
9g.110800647A>TCA374478938MUSKc.2269A>T (p.Lys757Ter)
c.2011A>T (p.Lys671Ter)
c.2245A>T (p.Lys749Ter)
c.1981A>T (p.Lys661Ter)
c.2299A>T (p.Lys767Ter)
c.2275A>T (p.Lys759Ter)
c.2329A>T (p.Lys777Ter)
c.1033A>T (p.Lys345Ter)
c.2035A>T (p.Lys679Ter)
c.1009A>T (p.Lys337Ter)
9g.110800648A=CA1872205698MUSKc.2270A= (p.Lys757=)
c.2012A= (p.Lys671=)
c.2246A= (p.Lys749=)
c.1982A= (p.Lys661=)
c.2300A= (p.Lys767=)
c.2276A= (p.Lys759=)
c.2330A= (p.Lys777=)
c.1034A= (p.Lys345=)
c.2036A= (p.Lys679=)
c.1010A= (p.Lys337=)
9g.110800648A>CCA5184597MUSKc.2270A>C (p.Lys757Thr)
c.2012A>C (p.Lys671Thr)
c.2246A>C (p.Lys749Thr)
c.1982A>C (p.Lys661Thr)
c.2300A>C (p.Lys767Thr)
c.2276A>C (p.Lys759Thr)
c.2330A>C (p.Lys777Thr)
c.1034A>C (p.Lys345Thr)
c.2036A>C (p.Lys679Thr)
c.1010A>C (p.Lys337Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800648A>GCA374478947MUSKc.2270A>G (p.Lys757Arg)
c.2012A>G (p.Lys671Arg)
c.2246A>G (p.Lys749Arg)
c.1982A>G (p.Lys661Arg)
c.2300A>G (p.Lys767Arg)
c.2276A>G (p.Lys759Arg)
c.2330A>G (p.Lys777Arg)
c.1034A>G (p.Lys345Arg)
c.2036A>G (p.Lys679Arg)
c.1010A>G (p.Lys337Arg)
 gnomAD v4
9g.110800648A>TCA374478944MUSKc.2270A>T (p.Lys757Ile)
c.2012A>T (p.Lys671Ile)
c.2246A>T (p.Lys749Ile)
c.1982A>T (p.Lys661Ile)
c.2300A>T (p.Lys767Ile)
c.2276A>T (p.Lys759Ile)
c.2330A>T (p.Lys777Ile)
c.1034A>T (p.Lys345Ile)
c.2036A>T (p.Lys679Ile)
c.1010A>T (p.Lys337Ile)
9g.110800649A>CCA374478950MUSKc.2271A>C (p.Lys757Asn)
c.2013A>C (p.Lys671Asn)
c.2247A>C (p.Lys749Asn)
c.1983A>C (p.Lys661Asn)
c.2301A>C (p.Lys767Asn)
c.2277A>C (p.Lys759Asn)
c.2331A>C (p.Lys777Asn)
c.1035A>C (p.Lys345Asn)
c.2037A>C (p.Lys679Asn)
c.1011A>C (p.Lys337Asn)
9g.110800649A>GCA466900961MUSKc.2271A>G (p.Lys757=)
c.2013A>G (p.Lys671=)
c.2247A>G (p.Lys749=)
c.1983A>G (p.Lys661=)
c.2301A>G (p.Lys767=)
c.2277A>G (p.Lys759=)
c.2331A>G (p.Lys777=)
c.1035A>G (p.Lys345=)
c.2037A>G (p.Lys679=)
c.1011A>G (p.Lys337=)
9g.110800649A>TCA374478953MUSKc.2271A>T (p.Lys757Asn)
c.2013A>T (p.Lys671Asn)
c.2247A>T (p.Lys749Asn)
c.1983A>T (p.Lys661Asn)
c.2301A>T (p.Lys767Asn)
c.2277A>T (p.Lys759Asn)
c.2331A>T (p.Lys777Asn)
c.1035A>T (p.Lys345Asn)
c.2037A>T (p.Lys679Asn)
c.1011A>T (p.Lys337Asn)
9g.110800650G>ACA374478956MUSKc.2272G>A (p.Ala758Thr)
c.2014G>A (p.Ala672Thr)
c.2248G>A (p.Ala750Thr)
c.1984G>A (p.Ala662Thr)
c.2302G>A (p.Ala768Thr)
c.2278G>A (p.Ala760Thr)
c.2332G>A (p.Ala778Thr)
c.1036G>A (p.Ala346Thr)
c.2038G>A (p.Ala680Thr)
c.1012G>A (p.Ala338Thr)
 dbSNP
9g.110800650G>CCA374478958MUSKc.2272G>C (p.Ala758Pro)
c.2014G>C (p.Ala672Pro)
c.2248G>C (p.Ala750Pro)
c.1984G>C (p.Ala662Pro)
c.2302G>C (p.Ala768Pro)
c.2278G>C (p.Ala760Pro)
c.2332G>C (p.Ala778Pro)
c.1036G>C (p.Ala346Pro)
c.2038G>C (p.Ala680Pro)
c.1012G>C (p.Ala338Pro)
9g.110800650G>TCA374478961MUSKc.2272G>T (p.Ala758Ser)
c.2014G>T (p.Ala672Ser)
c.2248G>T (p.Ala750Ser)
c.1984G>T (p.Ala662Ser)
c.2302G>T (p.Ala768Ser)
c.2278G>T (p.Ala760Ser)
c.2332G>T (p.Ala778Ser)
c.1036G>T (p.Ala346Ser)
c.2038G>T (p.Ala680Ser)
c.1012G>T (p.Ala338Ser)
 gnomAD v4
9g.110800651C>ACA374478964MUSKc.2273C>A (p.Ala758Asp)
c.2015C>A (p.Ala672Asp)
c.2249C>A (p.Ala750Asp)
c.1985C>A (p.Ala662Asp)
c.2303C>A (p.Ala768Asp)
c.2279C>A (p.Ala760Asp)
c.2333C>A (p.Ala778Asp)
c.1037C>A (p.Ala346Asp)
c.2039C>A (p.Ala680Asp)
c.1013C>A (p.Ala338Asp)
 dbSNP gnomAD v4
9g.110800651C=CA1872205699MUSKc.2273C= (p.Ala758=)
c.2015C= (p.Ala672=)
c.2249C= (p.Ala750=)
c.1985C= (p.Ala662=)
c.2303C= (p.Ala768=)
c.2279C= (p.Ala760=)
c.2333C= (p.Ala778=)
c.1037C= (p.Ala346=)
c.2039C= (p.Ala680=)
c.1013C= (p.Ala338=)
9g.110800651C>GCA374478966MUSKc.2273C>G (p.Ala758Gly)
c.2015C>G (p.Ala672Gly)
c.2249C>G (p.Ala750Gly)
c.1985C>G (p.Ala662Gly)
c.2303C>G (p.Ala768Gly)
c.2279C>G (p.Ala760Gly)
c.2333C>G (p.Ala778Gly)
c.1037C>G (p.Ala346Gly)
c.2039C>G (p.Ala680Gly)
c.1013C>G (p.Ala338Gly)
9g.110800651C>TCA374478969MUSKc.2273C>T (p.Ala758Val)
c.2015C>T (p.Ala672Val)
c.2249C>T (p.Ala750Val)
c.1985C>T (p.Ala662Val)
c.2303C>T (p.Ala768Val)
c.2279C>T (p.Ala760Val)
c.2333C>T (p.Ala778Val)
c.1037C>T (p.Ala346Val)
c.2039C>T (p.Ala680Val)
c.1013C>T (p.Ala338Val)

Number of alleles fetched