Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.110800743G>ACA16043436MUSKc.2365G>A (p.Gly789Ser)
c.2107G>A (p.Gly703Ser)
c.2341G>A (p.Gly781Ser)
c.2077G>A (p.Gly693Ser)
c.2395G>A (p.Gly799Ser)
c.2371G>A (p.Gly791Ser)
c.2425G>A (p.Gly809Ser)
c.1129G>A (p.Gly377Ser)
c.2131G>A (p.Gly711Ser)
c.1105G>A (p.Gly369Ser)
 ClinVar dbSNP gnomAD v4
9g.110800743G>CCA374479474MUSKc.2365G>C (p.Gly789Arg)
c.2107G>C (p.Gly703Arg)
c.2341G>C (p.Gly781Arg)
c.2077G>C (p.Gly693Arg)
c.2395G>C (p.Gly799Arg)
c.2371G>C (p.Gly791Arg)
c.2425G>C (p.Gly809Arg)
c.1129G>C (p.Gly377Arg)
c.2131G>C (p.Gly711Arg)
c.1105G>C (p.Gly369Arg)
9g.110800743G=CA1872205742MUSKc.2365G= (p.Gly789=)
c.2107G= (p.Gly703=)
c.2341G= (p.Gly781=)
c.2077G= (p.Gly693=)
c.2395G= (p.Gly799=)
c.2371G= (p.Gly791=)
c.2425G= (p.Gly809=)
c.1129G= (p.Gly377=)
c.2131G= (p.Gly711=)
c.1105G= (p.Gly369=)
9g.110800743G>TCA374479472MUSKc.2365G>T (p.Gly789Cys)
c.2107G>T (p.Gly703Cys)
c.2341G>T (p.Gly781Cys)
c.2077G>T (p.Gly693Cys)
c.2395G>T (p.Gly799Cys)
c.2371G>T (p.Gly791Cys)
c.2425G>T (p.Gly809Cys)
c.1129G>T (p.Gly377Cys)
c.2131G>T (p.Gly711Cys)
c.1105G>T (p.Gly369Cys)
 COSMIC COSMIC
9g.110800744dupCA198363734MUSKc.2366dup (p.Val790ArgfsTer20)
c.2108dup (p.Val704ArgfsTer20)
c.2342dup (p.Val782ArgfsTer20)
c.2078dup (p.Val694ArgfsTer20)
c.2396dup (p.Val800ArgfsTer20)
c.2372dup (p.Val792ArgfsTer20)
c.2426dup (p.Val810ArgfsTer20)
c.1130dup (p.Val378ArgfsTer20)
c.2132dup (p.Val712ArgfsTer20)
c.1106dup (p.Val370ArgfsTer20)
 dbSNP
9g.110800744G>ACA374479478MUSKc.2366G>A (p.Gly789Asp)
c.2108G>A (p.Gly703Asp)
c.2342G>A (p.Gly781Asp)
c.2078G>A (p.Gly693Asp)
c.2396G>A (p.Gly799Asp)
c.2372G>A (p.Gly791Asp)
c.2426G>A (p.Gly809Asp)
c.1130G>A (p.Gly377Asp)
c.2132G>A (p.Gly711Asp)
c.1106G>A (p.Gly369Asp)
9g.110800744G>CCA374479480MUSKc.2366G>C (p.Gly789Ala)
c.2108G>C (p.Gly703Ala)
c.2342G>C (p.Gly781Ala)
c.2078G>C (p.Gly693Ala)
c.2396G>C (p.Gly799Ala)
c.2372G>C (p.Gly791Ala)
c.2426G>C (p.Gly809Ala)
c.1130G>C (p.Gly377Ala)
c.2132G>C (p.Gly711Ala)
c.1106G>C (p.Gly369Ala)
 dbSNP gnomAD v2 gnomAD v4
9g.110800744G=CA1872205743MUSKc.2366G= (p.Gly789=)
c.2108G= (p.Gly703=)
c.2342G= (p.Gly781=)
c.2078G= (p.Gly693=)
c.2396G= (p.Gly799=)
c.2372G= (p.Gly791=)
c.2426G= (p.Gly809=)
c.1130G= (p.Gly377=)
c.2132G= (p.Gly711=)
c.1106G= (p.Gly369=)
9g.110800744G>TCA374479482MUSKc.2366G>T (p.Gly789Val)
c.2108G>T (p.Gly703Val)
c.2342G>T (p.Gly781Val)
c.2078G>T (p.Gly693Val)
c.2396G>T (p.Gly799Val)
c.2372G>T (p.Gly791Val)
c.2426G>T (p.Gly809Val)
c.1130G>T (p.Gly377Val)
c.2132G>T (p.Gly711Val)
c.1106G>T (p.Gly369Val)
9g.110800745C>ACA466901149MUSKc.2367C>A (p.Gly789=)
c.2109C>A (p.Gly703=)
c.2343C>A (p.Gly781=)
c.2079C>A (p.Gly693=)
c.2397C>A (p.Gly799=)
c.2373C>A (p.Gly791=)
c.2427C>A (p.Gly809=)
c.1131C>A (p.Gly377=)
c.2133C>A (p.Gly711=)
c.1107C>A (p.Gly369=)
 gnomAD v4
9g.110800745C=CA1872205744MUSKc.2367C= (p.Gly789=)
c.2109C= (p.Gly703=)
c.2343C= (p.Gly781=)
c.2079C= (p.Gly693=)
c.2397C= (p.Gly799=)
c.2373C= (p.Gly791=)
c.2427C= (p.Gly809=)
c.1131C= (p.Gly377=)
c.2133C= (p.Gly711=)
c.1107C= (p.Gly369=)
9g.110800745C>GCA466901150MUSKc.2367C>G (p.Gly789=)
c.2109C>G (p.Gly703=)
c.2343C>G (p.Gly781=)
c.2079C>G (p.Gly693=)
c.2397C>G (p.Gly799=)
c.2373C>G (p.Gly791=)
c.2427C>G (p.Gly809=)
c.1131C>G (p.Gly377=)
c.2133C>G (p.Gly711=)
c.1107C>G (p.Gly369=)
9g.110800745C>TCA5184617MUSKc.2367C>T (p.Gly789=)
c.2109C>T (p.Gly703=)
c.2343C>T (p.Gly781=)
c.2079C>T (p.Gly693=)
c.2397C>T (p.Gly799=)
c.2373C>T (p.Gly791=)
c.2427C>T (p.Gly809=)
c.1131C>T (p.Gly377=)
c.2133C>T (p.Gly711=)
c.1107C>T (p.Gly369=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800746G>ACA249734MUSKc.2368G>A (p.Val790Met)
c.2110G>A (p.Val704Met)
c.2344G>A (p.Val782Met)
c.2080G>A (p.Val694Met)
c.2398G>A (p.Val800Met)
c.2374G>A (p.Val792Met)
c.2428G>A (p.Val810Met)
c.1132G>A (p.Val378Met)
c.2134G>A (p.Val712Met)
c.1108G>A (p.Val370Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800746G>CCA374479486MUSKc.2368G>C (p.Val790Leu)
c.2110G>C (p.Val704Leu)
c.2344G>C (p.Val782Leu)
c.2080G>C (p.Val694Leu)
c.2398G>C (p.Val800Leu)
c.2374G>C (p.Val792Leu)
c.2428G>C (p.Val810Leu)
c.1132G>C (p.Val378Leu)
c.2134G>C (p.Val712Leu)
c.1108G>C (p.Val370Leu)
 dbSNP
9g.110800746G=CA1872205745MUSKc.2368G= (p.Val790=)
c.2110G= (p.Val704=)
c.2344G= (p.Val782=)
c.2080G= (p.Val694=)
c.2398G= (p.Val800=)
c.2374G= (p.Val792=)
c.2428G= (p.Val810=)
c.1132G= (p.Val378=)
c.2134G= (p.Val712=)
c.1108G= (p.Val370=)
9g.110800746G>TCA374479485MUSKc.2368G>T (p.Val790Leu)
c.2110G>T (p.Val704Leu)
c.2344G>T (p.Val782Leu)
c.2080G>T (p.Val694Leu)
c.2398G>T (p.Val800Leu)
c.2374G>T (p.Val792Leu)
c.2428G>T (p.Val810Leu)
c.1132G>T (p.Val378Leu)
c.2134G>T (p.Val712Leu)
c.1108G>T (p.Val370Leu)
9g.110800747T>ACA374479487MUSKc.2369T>A (p.Val790Glu)
c.2111T>A (p.Val704Glu)
c.2345T>A (p.Val782Glu)
c.2081T>A (p.Val694Glu)
c.2399T>A (p.Val800Glu)
c.2375T>A (p.Val792Glu)
c.2429T>A (p.Val810Glu)
c.1133T>A (p.Val378Glu)
c.2135T>A (p.Val712Glu)
c.1109T>A (p.Val370Glu)
9g.110800747T>CCA374479489MUSKc.2369T>C (p.Val790Ala)
c.2111T>C (p.Val704Ala)
c.2345T>C (p.Val782Ala)
c.2081T>C (p.Val694Ala)
c.2399T>C (p.Val800Ala)
c.2375T>C (p.Val792Ala)
c.2429T>C (p.Val810Ala)
c.1133T>C (p.Val378Ala)
c.2135T>C (p.Val712Ala)
c.1109T>C (p.Val370Ala)
9g.110800747T>GCA374479490MUSKc.2369T>G (p.Val790Gly)
c.2111T>G (p.Val704Gly)
c.2345T>G (p.Val782Gly)
c.2081T>G (p.Val694Gly)
c.2399T>G (p.Val800Gly)
c.2375T>G (p.Val792Gly)
c.2429T>G (p.Val810Gly)
c.1133T>G (p.Val378Gly)
c.2135T>G (p.Val712Gly)
c.1109T>G (p.Val370Gly)
9g.110800748G>ACA466901172MUSKc.2370G>A (p.Val790=)
c.2112G>A (p.Val704=)
c.2346G>A (p.Val782=)
c.2082G>A (p.Val694=)
c.2400G>A (p.Val800=)
c.2376G>A (p.Val792=)
c.2430G>A (p.Val810=)
c.1134G>A (p.Val378=)
c.2136G>A (p.Val712=)
c.1110G>A (p.Val370=)
9g.110800748G>CCA466901174MUSKc.2370G>C (p.Val790=)
c.2112G>C (p.Val704=)
c.2346G>C (p.Val782=)
c.2082G>C (p.Val694=)
c.2400G>C (p.Val800=)
c.2376G>C (p.Val792=)
c.2430G>C (p.Val810=)
c.1134G>C (p.Val378=)
c.2136G>C (p.Val712=)
c.1110G>C (p.Val370=)
9g.110800748G>TCA466901175MUSKc.2370G>T (p.Val790=)
c.2112G>T (p.Val704=)
c.2346G>T (p.Val782=)
c.2082G>T (p.Val694=)
c.2400G>T (p.Val800=)
c.2376G>T (p.Val792=)
c.2430G>T (p.Val810=)
c.1134G>T (p.Val378=)
c.2136G>T (p.Val712=)
c.1110G>T (p.Val370=)
9g.110800749G>ACA374479492MUSKc.2371G>A (p.Val791Ile)
c.2113G>A (p.Val705Ile)
c.2347G>A (p.Val783Ile)
c.2083G>A (p.Val695Ile)
c.2401G>A (p.Val801Ile)
c.2377G>A (p.Val793Ile)
c.2431G>A (p.Val811Ile)
c.1135G>A (p.Val379Ile)
c.2137G>A (p.Val713Ile)
c.1111G>A (p.Val371Ile)
9g.110800749G>CCA374479494MUSKc.2371G>C (p.Val791Leu)
c.2113G>C (p.Val705Leu)
c.2347G>C (p.Val783Leu)
c.2083G>C (p.Val695Leu)
c.2401G>C (p.Val801Leu)
c.2377G>C (p.Val793Leu)
c.2431G>C (p.Val811Leu)
c.1135G>C (p.Val379Leu)
c.2137G>C (p.Val713Leu)
c.1111G>C (p.Val371Leu)
9g.110800749G>TCA374479496MUSKc.2371G>T (p.Val791Phe)
c.2113G>T (p.Val705Phe)
c.2347G>T (p.Val783Phe)
c.2083G>T (p.Val695Phe)
c.2401G>T (p.Val801Phe)
c.2377G>T (p.Val793Phe)
c.2431G>T (p.Val811Phe)
c.1135G>T (p.Val379Phe)
c.2137G>T (p.Val713Phe)
c.1111G>T (p.Val371Phe)
9g.110800750T>ACA374479499MUSKc.2372T>A (p.Val791Asp)
c.2114T>A (p.Val705Asp)
c.2348T>A (p.Val783Asp)
c.2084T>A (p.Val695Asp)
c.2402T>A (p.Val801Asp)
c.2378T>A (p.Val793Asp)
c.2432T>A (p.Val811Asp)
c.1136T>A (p.Val379Asp)
c.2138T>A (p.Val713Asp)
c.1112T>A (p.Val371Asp)
9g.110800750T>CCA374479498MUSKc.2372T>C (p.Val791Ala)
c.2114T>C (p.Val705Ala)
c.2348T>C (p.Val783Ala)
c.2084T>C (p.Val695Ala)
c.2402T>C (p.Val801Ala)
c.2378T>C (p.Val793Ala)
c.2432T>C (p.Val811Ala)
c.1136T>C (p.Val379Ala)
c.2138T>C (p.Val713Ala)
c.1112T>C (p.Val371Ala)
9g.110800750T>GCA374479497MUSKc.2372T>G (p.Val791Gly)
c.2114T>G (p.Val705Gly)
c.2348T>G (p.Val783Gly)
c.2084T>G (p.Val695Gly)
c.2402T>G (p.Val801Gly)
c.2378T>G (p.Val793Gly)
c.2432T>G (p.Val811Gly)
c.1136T>G (p.Val379Gly)
c.2138T>G (p.Val713Gly)
c.1112T>G (p.Val371Gly)
9g.110800751C>ACA466901186MUSKc.2373C>A (p.Val791=)
c.2115C>A (p.Val705=)
c.2349C>A (p.Val783=)
c.2085C>A (p.Val695=)
c.2403C>A (p.Val801=)
c.2379C>A (p.Val793=)
c.2433C>A (p.Val811=)
c.1137C>A (p.Val379=)
c.2139C>A (p.Val713=)
c.1113C>A (p.Val371=)
 COSMIC
9g.110800751C>GCA466901188MUSKc.2373C>G (p.Val791=)
c.2115C>G (p.Val705=)
c.2349C>G (p.Val783=)
c.2085C>G (p.Val695=)
c.2403C>G (p.Val801=)
c.2379C>G (p.Val793=)
c.2433C>G (p.Val811=)
c.1137C>G (p.Val379=)
c.2139C>G (p.Val713=)
c.1113C>G (p.Val371=)
9g.110800751C>TCA466901191MUSKc.2373C>T (p.Val791=)
c.2115C>T (p.Val705=)
c.2349C>T (p.Val783=)
c.2085C>T (p.Val695=)
c.2403C>T (p.Val801=)
c.2379C>T (p.Val793=)
c.2433C>T (p.Val811=)
c.1137C>T (p.Val379=)
c.2139C>T (p.Val713=)
c.1113C>T (p.Val371=)
9g.110800752C>ACA374479502MUSKc.2374C>A (p.Leu792Ile)
c.2116C>A (p.Leu706Ile)
c.2350C>A (p.Leu784Ile)
c.2086C>A (p.Leu696Ile)
c.2404C>A (p.Leu802Ile)
c.2380C>A (p.Leu794Ile)
c.2434C>A (p.Leu812Ile)
c.1138C>A (p.Leu380Ile)
c.2140C>A (p.Leu714Ile)
c.1114C>A (p.Leu372Ile)
9g.110800752C=CA1872205746MUSKc.2374C= (p.Leu792=)
c.2116C= (p.Leu706=)
c.2350C= (p.Leu784=)
c.2086C= (p.Leu696=)
c.2404C= (p.Leu802=)
c.2380C= (p.Leu794=)
c.2434C= (p.Leu812=)
c.1138C= (p.Leu380=)
c.2140C= (p.Leu714=)
c.1114C= (p.Leu372=)
9g.110800752C>GCA374479505MUSKc.2374C>G (p.Leu792Val)
c.2116C>G (p.Leu706Val)
c.2350C>G (p.Leu784Val)
c.2086C>G (p.Leu696Val)
c.2404C>G (p.Leu802Val)
c.2380C>G (p.Leu794Val)
c.2434C>G (p.Leu812Val)
c.1138C>G (p.Leu380Val)
c.2140C>G (p.Leu714Val)
c.1114C>G (p.Leu372Val)
 gnomAD v4
9g.110800752C>TCA374479504MUSKc.2374C>T (p.Leu792Phe)
c.2116C>T (p.Leu706Phe)
c.2350C>T (p.Leu784Phe)
c.2086C>T (p.Leu696Phe)
c.2404C>T (p.Leu802Phe)
c.2380C>T (p.Leu794Phe)
c.2434C>T (p.Leu812Phe)
c.1138C>T (p.Leu380Phe)
c.2140C>T (p.Leu714Phe)
c.1114C>T (p.Leu372Phe)
 dbSNP gnomAD v4
9g.110800753T>ACA374479506MUSKc.2375T>A (p.Leu792His)
c.2117T>A (p.Leu706His)
c.2351T>A (p.Leu784His)
c.2087T>A (p.Leu696His)
c.2405T>A (p.Leu802His)
c.2381T>A (p.Leu794His)
c.2435T>A (p.Leu812His)
c.1139T>A (p.Leu380His)
c.2141T>A (p.Leu714His)
c.1115T>A (p.Leu372His)
9g.110800753T>CCA374479509MUSKc.2375T>C (p.Leu792Pro)
c.2117T>C (p.Leu706Pro)
c.2351T>C (p.Leu784Pro)
c.2087T>C (p.Leu696Pro)
c.2405T>C (p.Leu802Pro)
c.2381T>C (p.Leu794Pro)
c.2435T>C (p.Leu812Pro)
c.1139T>C (p.Leu380Pro)
c.2141T>C (p.Leu714Pro)
c.1115T>C (p.Leu372Pro)
 gnomAD v4
9g.110800753T>GCA374479507MUSKc.2375T>G (p.Leu792Arg)
c.2117T>G (p.Leu706Arg)
c.2351T>G (p.Leu784Arg)
c.2087T>G (p.Leu696Arg)
c.2405T>G (p.Leu802Arg)
c.2381T>G (p.Leu794Arg)
c.2435T>G (p.Leu812Arg)
c.1139T>G (p.Leu380Arg)
c.2141T>G (p.Leu714Arg)
c.1115T>G (p.Leu372Arg)
9g.110800754C>ACA466901431MUSKc.2376C>A (p.Leu792=)
c.2118C>A (p.Leu706=)
c.2352C>A (p.Leu784=)
c.2088C>A (p.Leu696=)
c.2406C>A (p.Leu802=)
c.2382C>A (p.Leu794=)
c.2436C>A (p.Leu812=)
c.1140C>A (p.Leu380=)
c.2142C>A (p.Leu714=)
c.1116C>A (p.Leu372=)
9g.110800754C>GCA466901433MUSKc.2376C>G (p.Leu792=)
c.2118C>G (p.Leu706=)
c.2352C>G (p.Leu784=)
c.2088C>G (p.Leu696=)
c.2406C>G (p.Leu802=)
c.2382C>G (p.Leu794=)
c.2436C>G (p.Leu812=)
c.1140C>G (p.Leu380=)
c.2142C>G (p.Leu714=)
c.1116C>G (p.Leu372=)
9g.110800754C>TCA466901435MUSKc.2376C>T (p.Leu792=)
c.2118C>T (p.Leu706=)
c.2352C>T (p.Leu784=)
c.2088C>T (p.Leu696=)
c.2406C>T (p.Leu802=)
c.2382C>T (p.Leu794=)
c.2436C>T (p.Leu812=)
c.1140C>T (p.Leu380=)
c.2142C>T (p.Leu714=)
c.1116C>T (p.Leu372=)
9g.110800755T>ACA374479510MUSKc.2377T>A (p.Trp793Arg)
c.2119T>A (p.Trp707Arg)
c.2353T>A (p.Trp785Arg)
c.2089T>A (p.Trp697Arg)
c.2407T>A (p.Trp803Arg)
c.2383T>A (p.Trp795Arg)
c.2437T>A (p.Trp813Arg)
c.1141T>A (p.Trp381Arg)
c.2143T>A (p.Trp715Arg)
c.1117T>A (p.Trp373Arg)
9g.110800755T>CCA374479511MUSKc.2377T>C (p.Trp793Arg)
c.2119T>C (p.Trp707Arg)
c.2353T>C (p.Trp785Arg)
c.2089T>C (p.Trp697Arg)
c.2407T>C (p.Trp803Arg)
c.2383T>C (p.Trp795Arg)
c.2437T>C (p.Trp813Arg)
c.1141T>C (p.Trp381Arg)
c.2143T>C (p.Trp715Arg)
c.1117T>C (p.Trp373Arg)
9g.110800755T>GCA374479512MUSKc.2377T>G (p.Trp793Gly)
c.2119T>G (p.Trp707Gly)
c.2353T>G (p.Trp785Gly)
c.2089T>G (p.Trp697Gly)
c.2407T>G (p.Trp803Gly)
c.2383T>G (p.Trp795Gly)
c.2437T>G (p.Trp813Gly)
c.1141T>G (p.Trp381Gly)
c.2143T>G (p.Trp715Gly)
c.1117T>G (p.Trp373Gly)
9g.110800756G>ACA374479513MUSKc.2378G>A (p.Trp793Ter)
c.2120G>A (p.Trp707Ter)
c.2354G>A (p.Trp785Ter)
c.2090G>A (p.Trp697Ter)
c.2408G>A (p.Trp803Ter)
c.2384G>A (p.Trp795Ter)
c.2438G>A (p.Trp813Ter)
c.1142G>A (p.Trp381Ter)
c.2144G>A (p.Trp715Ter)
c.1118G>A (p.Trp373Ter)
9g.110800756G>CCA374479515MUSKc.2378G>C (p.Trp793Ser)
c.2120G>C (p.Trp707Ser)
c.2354G>C (p.Trp785Ser)
c.2090G>C (p.Trp697Ser)
c.2408G>C (p.Trp803Ser)
c.2384G>C (p.Trp795Ser)
c.2438G>C (p.Trp813Ser)
c.1142G>C (p.Trp381Ser)
c.2144G>C (p.Trp715Ser)
c.1118G>C (p.Trp373Ser)
9g.110800756G>TCA374479517MUSKc.2378G>T (p.Trp793Leu)
c.2120G>T (p.Trp707Leu)
c.2354G>T (p.Trp785Leu)
c.2090G>T (p.Trp697Leu)
c.2408G>T (p.Trp803Leu)
c.2384G>T (p.Trp795Leu)
c.2438G>T (p.Trp813Leu)
c.1142G>T (p.Trp381Leu)
c.2144G>T (p.Trp715Leu)
c.1118G>T (p.Trp373Leu)
9g.110800757G>ACA374479519MUSKc.2379G>A (p.Trp793Ter)
c.2121G>A (p.Trp707Ter)
c.2355G>A (p.Trp785Ter)
c.2091G>A (p.Trp697Ter)
c.2409G>A (p.Trp803Ter)
c.2385G>A (p.Trp795Ter)
c.2439G>A (p.Trp813Ter)
c.1143G>A (p.Trp381Ter)
c.2145G>A (p.Trp715Ter)
c.1119G>A (p.Trp373Ter)
9g.110800757G>CCA374479520MUSKc.2379G>C (p.Trp793Cys)
c.2121G>C (p.Trp707Cys)
c.2355G>C (p.Trp785Cys)
c.2091G>C (p.Trp697Cys)
c.2409G>C (p.Trp803Cys)
c.2385G>C (p.Trp795Cys)
c.2439G>C (p.Trp813Cys)
c.1143G>C (p.Trp381Cys)
c.2145G>C (p.Trp715Cys)
c.1119G>C (p.Trp373Cys)

Number of alleles fetched