Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.110800532_110800546del | CA466900860 | MUSK | c.2154_2168del (p.Glu718_His723delinsAsp) c.1896_1910del (p.Glu632_His637delinsAsp) c.2130_2144del (p.Glu710_His715delinsAsp) c.1866_1880del (p.Glu622_His627delinsAsp) c.2184_2198del (p.Glu728_His733delinsAsp) c.2160_2174del (p.Glu720_His725delinsAsp) c.2214_2228del (p.Glu738_His743delinsAsp) c.918_932del (p.Glu306_His311delinsAsp) c.1920_1934del (p.Glu640_His645delinsAsp) c.894_908del (p.Glu298_His303delinsAsp) | gnomAD v4 |
9 | g.110800545C>A | CA374478391 | MUSK | c.2167C>A (p.His723Asn) c.1909C>A (p.His637Asn) c.2143C>A (p.His715Asn) c.1879C>A (p.His627Asn) c.2197C>A (p.His733Asn) c.2173C>A (p.His725Asn) c.2227C>A (p.His743Asn) c.931C>A (p.His311Asn) c.1933C>A (p.His645Asn) c.907C>A (p.His303Asn) | |
9 | g.110800545C>G | CA374478395 | MUSK | c.2167C>G (p.His723Asp) c.1909C>G (p.His637Asp) c.2143C>G (p.His715Asp) c.1879C>G (p.His627Asp) c.2197C>G (p.His733Asp) c.2173C>G (p.His725Asp) c.2227C>G (p.His743Asp) c.931C>G (p.His311Asp) c.1933C>G (p.His645Asp) c.907C>G (p.His303Asp) | gnomAD v4 |
9 | g.110800545C>T | CA374478397 | MUSK | c.2167C>T (p.His723Tyr) c.1909C>T (p.His637Tyr) c.2143C>T (p.His715Tyr) c.1879C>T (p.His627Tyr) c.2197C>T (p.His733Tyr) c.2173C>T (p.His725Tyr) c.2227C>T (p.His743Tyr) c.931C>T (p.His311Tyr) c.1933C>T (p.His645Tyr) c.907C>T (p.His303Tyr) | |
9 | g.110800546A>C | CA374478405 | MUSK | c.2168A>C (p.His723Pro) c.1910A>C (p.His637Pro) c.2144A>C (p.His715Pro) c.1880A>C (p.His627Pro) c.2198A>C (p.His733Pro) c.2174A>C (p.His725Pro) c.2228A>C (p.His743Pro) c.932A>C (p.His311Pro) c.1934A>C (p.His645Pro) c.908A>C (p.His303Pro) | |
9 | g.110800546A>G | CA374478402 | MUSK | c.2168A>G (p.His723Arg) c.1910A>G (p.His637Arg) c.2144A>G (p.His715Arg) c.1880A>G (p.His627Arg) c.2198A>G (p.His733Arg) c.2174A>G (p.His725Arg) c.2228A>G (p.His743Arg) c.932A>G (p.His311Arg) c.1934A>G (p.His645Arg) c.908A>G (p.His303Arg) | |
9 | g.110800546A>T | CA374478399 | MUSK | c.2168A>T (p.His723Leu) c.1910A>T (p.His637Leu) c.2144A>T (p.His715Leu) c.1880A>T (p.His627Leu) c.2198A>T (p.His733Leu) c.2174A>T (p.His725Leu) c.2228A>T (p.His743Leu) c.932A>T (p.His311Leu) c.1934A>T (p.His645Leu) c.908A>T (p.His303Leu) | |
9 | g.110800547C>A | CA374478407 | MUSK | c.2169C>A (p.His723Gln) c.1911C>A (p.His637Gln) c.2145C>A (p.His715Gln) c.1881C>A (p.His627Gln) c.2199C>A (p.His733Gln) c.2175C>A (p.His725Gln) c.2229C>A (p.His743Gln) c.933C>A (p.His311Gln) c.1935C>A (p.His645Gln) c.909C>A (p.His303Gln) | |
9 | g.110800547C>G | CA374478410 | MUSK | c.2169C>G (p.His723Gln) c.1911C>G (p.His637Gln) c.2145C>G (p.His715Gln) c.1881C>G (p.His627Gln) c.2199C>G (p.His733Gln) c.2175C>G (p.His725Gln) c.2229C>G (p.His743Gln) c.933C>G (p.His311Gln) c.1935C>G (p.His645Gln) c.909C>G (p.His303Gln) | |
9 | g.110800547C>T | CA466900868 | MUSK | c.2169C>T (p.His723=) c.1911C>T (p.His637=) c.2145C>T (p.His715=) c.1881C>T (p.His627=) c.2199C>T (p.His733=) c.2175C>T (p.His725=) c.2229C>T (p.His743=) c.933C>T (p.His311=) c.1935C>T (p.His645=) c.909C>T (p.His303=) | |
9 | g.110800548C>A | CA466900869 | MUSK | c.2170C>A (p.Arg724=) c.1912C>A (p.Arg638=) c.2146C>A (p.Arg716=) c.1882C>A (p.Arg628=) c.2200C>A (p.Arg734=) c.2176C>A (p.Arg726=) c.2230C>A (p.Arg744=) c.934C>A (p.Arg312=) c.1936C>A (p.Arg646=) c.910C>A (p.Arg304=) | COSMIC COSMIC |
9 | g.110800548C= | CA1872205656 | MUSK | c.2170C= (p.Arg724=) c.1912C= (p.Arg638=) c.2146C= (p.Arg716=) c.1882C= (p.Arg628=) c.2200C= (p.Arg734=) c.2176C= (p.Arg726=) c.2230C= (p.Arg744=) c.934C= (p.Arg312=) c.1936C= (p.Arg646=) c.910C= (p.Arg304=) | |
9 | g.110800548C>G | CA374478412 | MUSK | c.2170C>G (p.Arg724Gly) c.1912C>G (p.Arg638Gly) c.2146C>G (p.Arg716Gly) c.1882C>G (p.Arg628Gly) c.2200C>G (p.Arg734Gly) c.2176C>G (p.Arg726Gly) c.2230C>G (p.Arg744Gly) c.934C>G (p.Arg312Gly) c.1936C>G (p.Arg646Gly) c.910C>G (p.Arg304Gly) | |
9 | g.110800548C>T | CA374478415 | MUSK | c.2170C>T (p.Arg724Ter) c.1912C>T (p.Arg638Ter) c.2146C>T (p.Arg716Ter) c.1882C>T (p.Arg628Ter) c.2200C>T (p.Arg734Ter) c.2176C>T (p.Arg726Ter) c.2230C>T (p.Arg744Ter) c.934C>T (p.Arg312Ter) c.1936C>T (p.Arg646Ter) c.910C>T (p.Arg304Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.110800549G>A | CA374478419 | MUSK | c.2171G>A (p.Arg724Gln) c.1913G>A (p.Arg638Gln) c.2147G>A (p.Arg716Gln) c.1883G>A (p.Arg628Gln) c.2201G>A (p.Arg734Gln) c.2177G>A (p.Arg726Gln) c.2231G>A (p.Arg744Gln) c.935G>A (p.Arg312Gln) c.1937G>A (p.Arg646Gln) c.911G>A (p.Arg304Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
9 | g.110800549G>C | CA374478422 | MUSK | c.2171G>C (p.Arg724Pro) c.1913G>C (p.Arg638Pro) c.2147G>C (p.Arg716Pro) c.1883G>C (p.Arg628Pro) c.2201G>C (p.Arg734Pro) c.2177G>C (p.Arg726Pro) c.2231G>C (p.Arg744Pro) c.935G>C (p.Arg312Pro) c.1937G>C (p.Arg646Pro) c.911G>C (p.Arg304Pro) | |
9 | g.110800549G= | CA1872205657 | MUSK | c.2171G= (p.Arg724=) c.1913G= (p.Arg638=) c.2147G= (p.Arg716=) c.1883G= (p.Arg628=) c.2201G= (p.Arg734=) c.2177G= (p.Arg726=) c.2231G= (p.Arg744=) c.935G= (p.Arg312=) c.1937G= (p.Arg646=) c.911G= (p.Arg304=) | |
9 | g.110800549G>T | CA374478423 | MUSK | c.2171G>T (p.Arg724Leu) c.1913G>T (p.Arg638Leu) c.2147G>T (p.Arg716Leu) c.1883G>T (p.Arg628Leu) c.2201G>T (p.Arg734Leu) c.2177G>T (p.Arg726Leu) c.2231G>T (p.Arg744Leu) c.935G>T (p.Arg312Leu) c.1937G>T (p.Arg646Leu) c.911G>T (p.Arg304Leu) | |
9 | g.110800550A>C | CA466900870 | MUSK | c.2172A>C (p.Arg724=) c.1914A>C (p.Arg638=) c.2148A>C (p.Arg716=) c.1884A>C (p.Arg628=) c.2202A>C (p.Arg734=) c.2178A>C (p.Arg726=) c.2232A>C (p.Arg744=) c.936A>C (p.Arg312=) c.1938A>C (p.Arg646=) c.912A>C (p.Arg304=) | |
9 | g.110800550A>G | CA466900871 | MUSK | c.2172A>G (p.Arg724=) c.1914A>G (p.Arg638=) c.2148A>G (p.Arg716=) c.1884A>G (p.Arg628=) c.2202A>G (p.Arg734=) c.2178A>G (p.Arg726=) c.2232A>G (p.Arg744=) c.936A>G (p.Arg312=) c.1938A>G (p.Arg646=) c.912A>G (p.Arg304=) | |
9 | g.110800550A>T | CA466900872 | MUSK | c.2172A>T (p.Arg724=) c.1914A>T (p.Arg638=) c.2148A>T (p.Arg716=) c.1884A>T (p.Arg628=) c.2202A>T (p.Arg734=) c.2178A>T (p.Arg726=) c.2232A>T (p.Arg744=) c.936A>T (p.Arg312=) c.1938A>T (p.Arg646=) c.912A>T (p.Arg304=) | |
9 | g.110800551G>A | CA374478425 | MUSK | c.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 |
9 | g.110800551G>C | CA374478428 | MUSK | c.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) | |
9 | g.110800551G>T | CA374478429 | MUSK | c.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) | |
9 | g.110800552A>C | CA374478431 | MUSK | c.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) | |
9 | g.110800552A>G | CA374478436 | MUSK | c.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) | |
9 | g.110800552A>T | CA374478447 | MUSK | c.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) | |
9 | g.110800553T>A | CA374478451 | MUSK | c.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) | |
9 | g.110800553T>C | CA466900873 | MUSK | c.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 |
9 | g.110800553T>G | CA374478454 | MUSK | c.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) | |
9 | g.110800554T>A | CA374478457 | MUSK | c.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) | |
9 | g.110800554T>C | CA466900874 | MUSK | c.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=) | |
9 | g.110800554T>G | CA374478462 | MUSK | c.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) | |
9 | g.110800555T>A | CA374478465 | MUSK | c.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) | |
9 | g.110800555T>C | CA374478466 | MUSK | c.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) | |
9 | g.110800555T>G | CA374478467 | MUSK | c.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) | |
9 | g.110800556A>C | CA374478468 | MUSK | c.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) | |
9 | g.110800556A>G | CA466900875 | MUSK | c.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 |
9 | g.110800556A>T | CA374478469 | MUSK | c.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) | |
9 | g.110800557G>A | CA374478471 | MUSK | c.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) | |
9 | g.110800557G>C | CA374478473 | MUSK | c.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) | |
9 | g.110800557G>T | CA374478475 | MUSK | c.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) | |
9 | g.110800558C>A | CA374478477 | MUSK | c.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 |
9 | g.110800558C= | CA1872205658 | MUSK | c.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=) | |
9 | g.110800558C>G | CA374478479 | MUSK | c.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) | |
9 | g.110800558C>T | CA249738 | MUSK | c.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 |
9 | g.110800559C>A | CA466900876 | MUSK | c.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=) | |
9 | g.110800559C>G | CA466900877 | MUSK | c.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=) | |
9 | g.110800559C>T | CA466900878 | MUSK | c.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=) | |
9 | g.110800560A>C | CA374478483 | MUSK | c.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) | |
9 | g.110800560A>G | CA374478484 | MUSK | c.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) | |
9 | g.110800560A>T | CA374478482 | MUSK | c.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) | |
9 | g.110800561C>A | CA374478485 | MUSK | c.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) | |
9 | g.110800561C>G | CA374478487 | MUSK | c.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) | |
9 | g.110800561C>T | CA374478488 | MUSK | c.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 |
9 | g.110800562C>A | CA198363545 | MUSK | c.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 |
9 | g.110800562C= | CA1872205659 | MUSK | c.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=) | |
9 | g.110800562C>G | CA466900879 | MUSK | c.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=) | |
9 | g.110800562C>T | CA466900880 | MUSK | c.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=) | |
9 | g.110800563A>C | CA466900881 | MUSK | c.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=) | |
9 | g.110800563A>G | CA374478491 | MUSK | c.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) | |
9 | g.110800563A>T | CA374478494 | MUSK | c.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) | |
9 | g.110800564G>A | CA374478501 | MUSK | c.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) | |
9 | g.110800564G>C | CA374478497 | MUSK | c.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) | |
9 | g.110800564G>T | CA374478500 | MUSK | c.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) | |
9 | g.110800565del | CA2785557021 | MUSK | c.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) | |
9 | g.110800565G>A | CA466900882 | MUSK | c.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=) | |
9 | g.110800565G>C | CA374478504 | MUSK | c.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 |
9 | g.110800565G>T | CA374478505 | MUSK | c.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) | |
9 | g.110800566A>C | CA374478506 | MUSK | c.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) | |
9 | g.110800566A>G | CA374478507 | MUSK | c.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) | |
9 | g.110800566A>T | CA374478508 | MUSK | c.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) | |
9 | g.110800567A>C | CA374478511 | MUSK | c.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) | |
9 | g.110800567A>G | CA374478515 | MUSK | c.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 |
9 | g.110800567A>T | CA374478512 | MUSK | c.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) | |
9 | g.110800568C>A | CA374478521 | MUSK | c.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) | |
9 | g.110800568C>G | CA374478523 | MUSK | c.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) | |
9 | g.110800568C>T | CA466900883 | MUSK | c.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=) | |
9 | g.110800569T>A | CA374478525 | MUSK | c.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) | |
9 | g.110800569T>C | CA374478527 | MUSK | c.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) | |
9 | g.110800569T>G | CA374478530 | MUSK | c.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) | |
9 | g.110800570del | CA2740095564 | MUSK | c.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 |
9 | g.110800570G>A | CA374478532 | MUSK | c.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) | |
9 | g.110800570G>C | CA374478534 | MUSK | c.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) | |
9 | g.110800570G>T | CA374478535 | MUSK | c.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) | |
9 | g.110800571C>A | CA374478537 | MUSK | c.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) | |
9 | g.110800571C>G | CA374478538 | MUSK | c.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) | |
9 | g.110800571C>T | CA466900884 | MUSK | c.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 |
9 | g.110800572C>A | CA374478539 | MUSK | c.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) | |
9 | g.110800572C= | CA1872205660 | MUSK | c.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=) | |
9 | g.110800572C>G | CA374478540 | MUSK | c.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) | |
9 | g.110800572C>T | CA466900885 | MUSK | c.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 |
9 | g.110800573T>A | CA374478543 | MUSK | c.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) | |
9 | g.110800573T>C | CA374478545 | MUSK | c.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) | |
9 | g.110800573T>G | CA374478549 | MUSK | c.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) | |
9 | g.110800574G>A | CA466900886 | MUSK | c.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 |
9 | g.110800574G>C | CA466900887 | MUSK | c.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=) | |
9 | g.110800574G= | CA1872205661 | MUSK | c.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=) | |
9 | g.110800574G>T | CA466900888 | MUSK | c.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=) | |
9 | g.110800575G>A | CA374478552 | MUSK | c.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) | |
9 | g.110800575G>C | CA374478559 | MUSK | c.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) | |
9 | g.110800575G>T | CA374478556 | MUSK | c.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) | |
9 | g.110800576T>A | CA374478563 | MUSK | c.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) | |
9 | g.110800576T>C | CA374478565 | MUSK | c.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 |
9 | g.110800576T>G | CA374478568 | MUSK | c.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) | |
9 | g.110800576T= | CA1872205662 | MUSK | c.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=) | |
9 | g.110800577G>A | CA466900889 | MUSK | c.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 |
9 | g.110800577G>C | CA466900890 | MUSK | c.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=) | |
9 | g.110800577G>T | CA466900891 | MUSK | c.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=) | |
9 | g.110800579del | CA2579417165 | MUSK | c.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) | |
9 | g.110800578G>A | CA5184581 | MUSK | c.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 |
9 | g.110800578G>C | CA374478573 | MUSK | c.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) | |
9 | g.110800578G= | CA1872205663 | MUSK | c.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=) | |
9 | g.110800578G>T | CA374478576 | MUSK | c.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) | |
9 | g.110800579G>A | CA374478578 | MUSK | c.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) | |
9 | g.110800579G>C | CA374478579 | MUSK | c.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) | |
9 | g.110800579G= | CA1872205664 | MUSK | c.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=) | |
9 | g.110800579G>T | CA198363553 | MUSK | c.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 |
9 | g.110800580C>A | CA466900892 | MUSK | c.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=) | |
9 | g.110800580C= | CA1872205665 | MUSK | c.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=) | |
9 | g.110800580C>G | CA466900893 | MUSK | c.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=) | |
9 | g.110800580C>T | CA153737 | MUSK | c.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 |
9 | g.110800581G>A | CA5184582 | MUSK | c.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 |
9 | g.110800581G>C | CA374478582 | MUSK | c.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) | |
9 | g.110800581G= | CA1872205666 | MUSK | c.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=) | |
9 | g.110800581G>T | CA374478580 | MUSK | c.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) | |
9 | g.110800582A>C | CA374478584 | MUSK | c.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) | |
9 | g.110800582A>G | CA374478586 | MUSK | c.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) | |
9 | g.110800582A>T | CA374478588 | MUSK | c.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) | |
9 | g.110800583G>A | CA198363568 | MUSK | c.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 |
9 | g.110800583G>C | CA374478590 | MUSK | c.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) | |
9 | g.110800583G= | CA1872205667 | MUSK | c.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=) | |
9 | g.110800583G>T | CA374478591 | MUSK | c.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) | |
9 | g.110800584A>C | CA374478593 | MUSK | c.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) | |
9 | g.110800584A>G | CA374478594 | MUSK | c.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) | |
9 | g.110800584A>T | CA374478595 | MUSK | c.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) | |
9 | g.110800585A>C | CA374478597 | MUSK | c.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 |
9 | g.110800585A>G | CA374478598 | MUSK | c.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) | |
9 | g.110800585A>T | CA374478601 | MUSK | c.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) | |
9 | g.110800586C>A | CA374478603 | MUSK | c.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) | |
9 | g.110800586C= | CA1872205668 | MUSK | c.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=) | |
9 | g.110800586C>G | CA5184583 | MUSK | c.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 |
9 | g.110800586C>T | CA466900894 | MUSK | c.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 |
9 | g.110800587A= | CA1872205669 | MUSK | c.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=) | |
9 | g.110800587A>C | CA374478612 | MUSK | c.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 |
9 | g.110800587A>G | CA374478610 | MUSK | c.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 |
9 | g.110800587A>T | CA374478608 | MUSK | c.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 |
9 | g.110800588T>A | CA374478613 | MUSK | c.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) | |
9 | g.110800588T>C | CA198363578 | MUSK | c.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 |
9 | g.110800588T>G | CA374478617 | MUSK | c.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) | |
9 | g.110800588T= | CA1872205670 | MUSK | c.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=) | |
9 | g.110800589G>A | CA374478619 | MUSK | c.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 |
9 | g.110800589G>C | CA374478620 | MUSK | c.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) | |
9 | g.110800589G>T | CA374478624 | MUSK | c.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) | |
9 | g.110800590G>A | CA374478626 | MUSK | c.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) | |
9 | g.110800590G>C | CA374478628 | MUSK | c.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) | |
9 | g.110800590G>T | CA374478629 | MUSK | c.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) | |
9 | g.110800591T>A | CA374478638 | MUSK | c.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) | |
9 | g.110800591T>C | CA5184584 | MUSK | c.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 |
9 | g.110800591T>G | CA374478640 | MUSK | c.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) | |
9 | g.110800591T= | CA1872205671 | MUSK | c.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=) | |
9 | g.110800592G>A | CA5184585 | MUSK | c.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 |
9 | g.110800592G>C | CA466900896 | MUSK | c.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=) | |
9 | g.110800592G= | CA1872205672 | MUSK | c.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=) | |
9 | g.110800592G>T | CA466900895 | MUSK | c.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=) | |
9 | g.110800593G>A | CA374478649 | MUSK | c.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 |
9 | g.110800593G>C | CA374478650 | MUSK | c.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) | |
9 | g.110800593G>T | CA374478647 | MUSK | c.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 |
9 | g.110800594T>A | CA374478653 | MUSK | c.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) | |
9 | g.110800594T>C | CA5184586 | MUSK | c.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 |
9 | g.110800594T>G | CA374478658 | MUSK | c.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) | |
9 | g.110800594T= | CA1872205673 | MUSK | c.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=) | |
9 | g.110800595G>A | CA466900897 | MUSK | c.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 |
9 | g.110800595G>C | CA466900899 | MUSK | c.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=) | |
9 | g.110800595G= | CA1872205674 | MUSK | c.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=) | |
9 | g.110800595G>T | CA466900898 | MUSK | c.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=) | |
9 | g.110800596A>C | CA374478662 | MUSK | c.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) | |
9 | g.110800596A>G | CA374478665 | MUSK | c.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) | |
9 | g.110800596A>T | CA374478664 | MUSK | c.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) | |
9 | g.110800597A>C | CA374478668 | MUSK | c.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 |
9 | g.110800597A>G | CA374478671 | MUSK | c.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) | |
9 | g.110800597A>T | CA374478673 | MUSK | c.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) | |
9 | g.110800598A>C | CA374478680 | MUSK | c.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) | |
9 | g.110800598A>G | CA466900900 | MUSK | c.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=) | |
9 | g.110800598A>T | CA374478683 | MUSK | c.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) | |
9 | g.110800599A>C | CA374478686 | MUSK | c.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) | |
9 | g.110800599A>G | CA374478687 | MUSK | c.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) | |
9 | g.110800599A>T | CA374478688 | MUSK | c.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) | |
9 | g.110800600T>A | CA374478689 | MUSK | c.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) | |
9 | g.110800600T>C | CA5184587 | MUSK | c.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 |
9 | g.110800600T>G | CA374478691 | MUSK | c.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) | |
9 | g.110800600T= | CA1872205675 | MUSK | c.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=) | |
9 | g.110800601T>A | CA466900902 | MUSK | c.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 |
9 | g.110800601T>C | CA466900901 | MUSK | c.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=) | |
9 | g.110800601T>G | CA374478693 | MUSK | c.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) | |
9 | g.110800602G>A | CA374478704 | MUSK | c.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) | |
9 | g.110800602G>C | CA374478702 | MUSK | c.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) | |
9 | g.110800602G>T | CA374478696 | MUSK | c.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) | |
9 | g.110800603C>A | CA374478706 | MUSK | c.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) | |
9 | g.110800603C= | CA1872205676 | MUSK | c.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=) | |
9 | g.110800603C>G | CA374478707 | MUSK | c.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) | |
9 | g.110800603C>T | CA374478708 | MUSK | c.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 |
9 | g.110800604C>A | CA5184589 | MUSK | c.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 |
9 | g.110800604C= | CA1872205677 | MUSK | c.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=) | |
9 | g.110800604C>G | CA466900903 | MUSK | c.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=) | |
9 | g.110800604C>T | CA5184588 | MUSK | c.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 |
9 | g.110800605G>A | CA5184590 | MUSK | c.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 |
9 | g.110800605G>C | CA5184591 | MUSK | c.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 |
9 | g.110800605G= | CA1872205678 | MUSK | c.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=) | |
9 | g.110800605G>T | CA374478716 | MUSK | c.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 |
9 | g.110800606A>C | CA374478718 | MUSK | c.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) | |
9 | g.110800606A>G | CA374478721 | MUSK | c.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 |
9 | g.110800606A>T | CA374478722 | MUSK | c.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) | |
9 | g.110800607C>A | CA374478723 | MUSK | c.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) | |
9 | g.110800607C= | CA1872205679 | MUSK | c.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=) | |
9 | g.110800607C>G | CA374478724 | MUSK | c.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 |
9 | g.110800607C>T | CA466900904 | MUSK | c.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 |
9 | g.110800608T>A | CA374478726 | MUSK | c.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) | |
9 | g.110800608T>C | CA374478727 | MUSK | c.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) | |
9 | g.110800608T>G | CA374478725 | MUSK | c.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) | |
9 | g.110800609T>A | CA374478728 | MUSK | c.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) | |
9 | g.110800609T>C | CA374478731 | MUSK | c.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) | |
9 | g.110800609T>G | CA198363613 | MUSK | c.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 |
9 | g.110800609T= | CA1872205680 | MUSK | c.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=) | |
9 | g.110800610T>A | CA374478735 | MUSK | c.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) | |
9 | g.110800610T>C | CA466900905 | MUSK | c.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 |
9 | g.110800610T>G | CA374478736 | MUSK | c.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) | |
9 | g.110800610T= | CA1872205681 | MUSK | c.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=) | |
9 | g.110800610_110800611delinsTG | CA1872205682 | MUSK | c.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=) | |
9 | g.110800611G>A | CA374478738 | MUSK | c.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) | |
9 | g.110800611G>C | CA374478743 | MUSK | c.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) | |
9 | g.110800611G>T | CA374478745 | MUSK | c.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) | |
9 | g.110800612del | CA1872205683 | MUSK | c.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 |
9 | g.110800612G>A | CA374478748 | MUSK | c.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) | |
9 | g.110800612G>C | CA374478750 | MUSK | c.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) | |
9 | g.110800612G>T | CA374478752 | MUSK | c.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) | |
9 | g.110800613C>A | CA466900906 | MUSK | c.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 |
9 | g.110800613C>G | CA466900907 | MUSK | c.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=) | |
9 | g.110800613C>T | CA466900908 | MUSK | c.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=) | |
9 | g.110800614C>A | CA374478760 | MUSK | c.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) | |
9 | g.110800614C>G | CA374478755 | MUSK | c.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) | |
9 | g.110800614C>T | CA374478758 | MUSK | c.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 |
9 | g.110800615T>A | CA374478762 | MUSK | c.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) | |
9 | g.110800615T>C | CA374478764 | MUSK | c.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) | |
9 | g.110800615T>G | CA374478765 | MUSK | c.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) | |
9 | g.110800616C>A | CA466900909 | MUSK | c.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=) | |
9 | g.110800616C>G | CA466900910 | MUSK | c.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=) | |
9 | g.110800616C>T | CA466900911 | MUSK | c.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 |
9 | g.110800617T>A | CA374478767 | MUSK | c.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) | |
9 | g.110800617T>C | CA374478768 | MUSK | c.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) | |
9 | g.110800617T>G | CA374478770 | MUSK | c.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) | |
9 | g.110800618C>A | CA374478772 | MUSK | c.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) | |
9 | g.110800618C= | CA1872205684 | MUSK | c.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=) | |
9 | g.110800618C>G | CA198363617 | MUSK | c.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 |
9 | g.110800618C>T | CA374478782 | MUSK | c.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) | |
9 | g.110800619C>A | CA466900912 | MUSK | c.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=) | |
9 | g.110800619C>G | CA466900913 | MUSK | c.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=) | |
9 | g.110800619C>T | CA466900914 | MUSK | c.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 |
9 | g.110800620A>C | CA466900915 | MUSK | c.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=) | |
9 | g.110800620A>G | CA374478785 | MUSK | c.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) | |
9 | g.110800620A>T | CA374478786 | MUSK | c.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) | |
9 | g.110800621G>A | CA5184592 | MUSK | c.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 |
9 | g.110800621G>C | CA374478790 | MUSK | c.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) | |
9 | g.110800621G= | CA1872205685 | MUSK | c.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=) | |
9 | g.110800621G>T | CA374478787 | MUSK | c.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) | |
9 | g.110800622G>A | CA5184593 | MUSK | c.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 |
9 | g.110800622G>C | CA374478792 | MUSK | c.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) | |
9 | g.110800622G= | CA1872205686 | MUSK | c.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=) | |
9 | g.110800622G>T | CA374478795 | MUSK | c.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 |
9 | g.110800623A= | CA1872205687 | MUSK | c.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=) | |
9 | g.110800623A>C | CA374478797 | MUSK | c.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) | |
9 | g.110800623A>G | CA374478798 | MUSK | c.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 |
9 | g.110800623A>T | CA374478799 | MUSK | c.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) | |
9 | g.110800624A= | CA1872205688 | MUSK | c.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=) | |
9 | g.110800624A>C | CA374478800 | MUSK | c.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) | |
9 | g.110800624A>G | CA5184594 | MUSK | c.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 |
9 | g.110800624A>T | CA374478801 | MUSK | c.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) | |
9 | g.110800625C>A | CA374478803 | MUSK | c.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) | |
9 | g.110800625C>G | CA374478804 | MUSK | c.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) | |
9 | g.110800625C>T | CA466900932 | MUSK | c.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 |
9 | g.110800626A= | CA1872205689 | MUSK | c.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=) | |
9 | g.110800626A>C | CA374478807 | MUSK | c.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) | |
9 | g.110800626A>G | CA374478808 | MUSK | c.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) | |
9 | g.110800626A>T | CA198363635 | MUSK | c.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 |
9 | g.110800627T>A | CA374478816 | MUSK | c.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 |
9 | g.110800627T>C | CA5184595 | MUSK | c.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 |
9 | g.110800627T>G | CA374478815 | MUSK | c.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) | |
9 | g.110800627T= | CA1872205690 | MUSK | c.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=) | |
9 | g.110800628C>A | CA466900935 | MUSK | c.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=) | |
9 | g.110800628C>G | CA374478818 | MUSK | c.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) | |
9 | g.110800628C>T | CA466900936 | MUSK | c.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 |
9 | g.110800633_110800644del | CA2691186946 | MUSK | c.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 |
9 | g.110800629T>A | CA374478821 | MUSK | c.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) | |
9 | g.110800629T>C | CA374478831 | MUSK | c.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 |
9 | g.110800629T>G | CA374478834 | MUSK | c.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) | |
9 | g.110800630A>C | CA374478836 | MUSK | c.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) | |
9 | g.110800630A>G | CA374478839 | MUSK | c.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) | |
9 | g.110800630A>T | CA374478841 | MUSK | c.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) | |
9 | g.110800631C>A | CA374478842 | MUSK | c.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) | |
9 | g.110800631C>G | CA374478843 | MUSK | c.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) | |
9 | g.110800631C>T | CA466900943 | MUSK | c.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=) | |
9 | g.110800632T>A | CA374478844 | MUSK | c.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) | |
9 | g.110800632T>C | CA374478845 | MUSK | c.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) | |
9 | g.110800632T>G | CA374478846 | MUSK | c.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) | |
9 | g.110800633C>A | CA374478853 | MUSK | c.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) | |
9 | g.110800633C= | CA1872205691 | MUSK | c.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=) | |
9 | g.110800633C>G | CA374478850 | MUSK | c.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) | |
9 | g.110800633C>T | CA374478848 | MUSK | c.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 |
9 | g.110800634A= | CA1872205692 | MUSK | c.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=) | |
9 | g.110800634A>C | CA466900945 | MUSK | c.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=) | |
9 | g.110800634A>G | CA466900946 | MUSK | c.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=) | |
9 | g.110800634A>T | CA5184596 | MUSK | c.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 |
9 | g.110800635G>A | CA374478862 | MUSK | c.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) | |
9 | g.110800635G>C | CA374478863 | MUSK | c.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) | |
9 | g.110800635G>T | CA374478864 | MUSK | c.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) | |
9 | g.110800636C>A | CA374478866 | MUSK | c.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) | |
9 | g.110800636C>G | CA374478867 | MUSK | c.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) | |
9 | g.110800636C>T | CA374478870 | MUSK | c.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) | |
9 | g.110800637A>C | CA466900949 | MUSK | c.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 |
9 | g.110800637A>G | CA466900950 | MUSK | c.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=) | |
9 | g.110800637A>T | CA466900951 | MUSK | c.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=) | |
9 | g.110800638G>A | CA374478875 | MUSK | c.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 |
9 | g.110800638G>C | CA374478882 | MUSK | c.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) | |
9 | g.110800638G= | CA1872205694 | MUSK | c.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=) | |
9 | g.110800638G>T | CA374478883 | MUSK | c.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) | |
9 | g.110800638_110800644delinsGACTACT | CA1872205693 | MUSK | c.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=) | |
9 | g.110800639A>C | CA374478885 | MUSK | c.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) | |
9 | g.110800639A>G | CA374478887 | MUSK | c.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) | |
9 | g.110800639A>T | CA374478888 | MUSK | c.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) | |
9 | g.110800641_110800646del | CA915947123 | MUSK | c.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 |
9 | g.110800640C>A | CA374478891 | MUSK | c.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) | |
9 | g.110800640C= | CA1872205695 | MUSK | c.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=) | |
9 | g.110800640C>G | CA374478889 | MUSK | c.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 |
9 | g.110800640C>T | CA198363648 | MUSK | c.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 |
9 | g.110800641T>A | CA374478893 | MUSK | c.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) | |
9 | g.110800641T>C | CA374478895 | MUSK | c.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 |
9 | g.110800641T>G | CA374478897 | MUSK | c.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) | |
9 | g.110800642A>C | CA374478899 | MUSK | c.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 |
9 | g.110800642A>G | CA374478901 | MUSK | c.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) | |
9 | g.110800642A>T | CA374478902 | MUSK | c.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) | |
9 | g.110800643C>A | CA374478903 | MUSK | c.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) | |
9 | g.110800643C>G | CA374478905 | MUSK | c.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) | |
9 | g.110800643C>T | CA466900955 | MUSK | c.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=) | |
9 | g.110800644T>A | CA374478911 | MUSK | c.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 |
9 | g.110800644T>C | CA374478914 | MUSK | c.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 |
9 | g.110800644T>G | CA374478917 | MUSK | c.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) | |
9 | g.110800645A>C | CA374478920 | MUSK | c.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) | |
9 | g.110800645A>G | CA374478921 | MUSK | c.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 |
9 | g.110800645A>T | CA374478924 | MUSK | c.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) |