Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
9g.110800757G>TCA374479522MUSKc.2379G>T (p.Trp793Cys)
c.2121G>T (p.Trp707Cys)
c.2355G>T (p.Trp785Cys)
c.2091G>T (p.Trp697Cys)
c.2409G>T (p.Trp803Cys)
c.2385G>T (p.Trp795Cys)
c.2439G>T (p.Trp813Cys)
c.1143G>T (p.Trp381Cys)
c.2145G>T (p.Trp715Cys)
c.1119G>T (p.Trp373Cys)
9g.110800758G>ACA374479524MUSKc.2380G>A (p.Glu794Lys)
c.2122G>A (p.Glu708Lys)
c.2356G>A (p.Glu786Lys)
c.2092G>A (p.Glu698Lys)
c.2410G>A (p.Glu804Lys)
c.2386G>A (p.Glu796Lys)
c.2440G>A (p.Glu814Lys)
c.1144G>A (p.Glu382Lys)
c.2146G>A (p.Glu716Lys)
c.1120G>A (p.Glu374Lys)
 COSMIC COSMIC
9g.110800758G>CCA374479526MUSKc.2380G>C (p.Glu794Gln)
c.2122G>C (p.Glu708Gln)
c.2356G>C (p.Glu786Gln)
c.2092G>C (p.Glu698Gln)
c.2410G>C (p.Glu804Gln)
c.2386G>C (p.Glu796Gln)
c.2440G>C (p.Glu814Gln)
c.1144G>C (p.Glu382Gln)
c.2146G>C (p.Glu716Gln)
c.1120G>C (p.Glu374Gln)
9g.110800758G>TCA374479527MUSKc.2380G>T (p.Glu794Ter)
c.2122G>T (p.Glu708Ter)
c.2356G>T (p.Glu786Ter)
c.2092G>T (p.Glu698Ter)
c.2410G>T (p.Glu804Ter)
c.2386G>T (p.Glu796Ter)
c.2440G>T (p.Glu814Ter)
c.1144G>T (p.Glu382Ter)
c.2146G>T (p.Glu716Ter)
c.1120G>T (p.Glu374Ter)
 COSMIC COSMIC
9g.110800759A>CCA374479528MUSKc.2381A>C (p.Glu794Ala)
c.2123A>C (p.Glu708Ala)
c.2357A>C (p.Glu786Ala)
c.2093A>C (p.Glu698Ala)
c.2411A>C (p.Glu804Ala)
c.2387A>C (p.Glu796Ala)
c.2441A>C (p.Glu814Ala)
c.1145A>C (p.Glu382Ala)
c.2147A>C (p.Glu716Ala)
c.1121A>C (p.Glu374Ala)
9g.110800759A>GCA374479532MUSKc.2381A>G (p.Glu794Gly)
c.2123A>G (p.Glu708Gly)
c.2357A>G (p.Glu786Gly)
c.2093A>G (p.Glu698Gly)
c.2411A>G (p.Glu804Gly)
c.2387A>G (p.Glu796Gly)
c.2441A>G (p.Glu814Gly)
c.1145A>G (p.Glu382Gly)
c.2147A>G (p.Glu716Gly)
c.1121A>G (p.Glu374Gly)
9g.110800759A>TCA374479530MUSKc.2381A>T (p.Glu794Val)
c.2123A>T (p.Glu708Val)
c.2357A>T (p.Glu786Val)
c.2093A>T (p.Glu698Val)
c.2411A>T (p.Glu804Val)
c.2387A>T (p.Glu796Val)
c.2441A>T (p.Glu814Val)
c.1145A>T (p.Glu382Val)
c.2147A>T (p.Glu716Val)
c.1121A>T (p.Glu374Val)
9g.110800760G>ACA466901450MUSKc.2382G>A (p.Glu794=)
c.2124G>A (p.Glu708=)
c.2358G>A (p.Glu786=)
c.2094G>A (p.Glu698=)
c.2412G>A (p.Glu804=)
c.2388G>A (p.Glu796=)
c.2442G>A (p.Glu814=)
c.1146G>A (p.Glu382=)
c.2148G>A (p.Glu716=)
c.1122G>A (p.Glu374=)
 ClinVar
9g.110800760G>CCA339639MUSKc.2382G>C (p.Glu794Asp)
c.2124G>C (p.Glu708Asp)
c.2358G>C (p.Glu786Asp)
c.2094G>C (p.Glu698Asp)
c.2412G>C (p.Glu804Asp)
c.2388G>C (p.Glu796Asp)
c.2442G>C (p.Glu814Asp)
c.1146G>C (p.Glu382Asp)
c.2148G>C (p.Glu716Asp)
c.1122G>C (p.Glu374Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800760G=CA1872205747MUSKc.2382G= (p.Glu794=)
c.2124G= (p.Glu708=)
c.2358G= (p.Glu786=)
c.2094G= (p.Glu698=)
c.2412G= (p.Glu804=)
c.2388G= (p.Glu796=)
c.2442G= (p.Glu814=)
c.1146G= (p.Glu382=)
c.2148G= (p.Glu716=)
c.1122G= (p.Glu374=)
9g.110800760G>TCA374479534MUSKc.2382G>T (p.Glu794Asp)
c.2124G>T (p.Glu708Asp)
c.2358G>T (p.Glu786Asp)
c.2094G>T (p.Glu698Asp)
c.2412G>T (p.Glu804Asp)
c.2388G>T (p.Glu796Asp)
c.2442G>T (p.Glu814Asp)
c.1146G>T (p.Glu382Asp)
c.2148G>T (p.Glu716Asp)
c.1122G>T (p.Glu374Asp)
9g.110800761A>CCA374479536MUSKc.2383A>C (p.Ile795Leu)
c.2125A>C (p.Ile709Leu)
c.2359A>C (p.Ile787Leu)
c.2095A>C (p.Ile699Leu)
c.2413A>C (p.Ile805Leu)
c.2389A>C (p.Ile797Leu)
c.2443A>C (p.Ile815Leu)
c.1147A>C (p.Ile383Leu)
c.2149A>C (p.Ile717Leu)
c.1123A>C (p.Ile375Leu)
9g.110800761A>GCA374479538MUSKc.2383A>G (p.Ile795Val)
c.2125A>G (p.Ile709Val)
c.2359A>G (p.Ile787Val)
c.2095A>G (p.Ile699Val)
c.2413A>G (p.Ile805Val)
c.2389A>G (p.Ile797Val)
c.2443A>G (p.Ile815Val)
c.1147A>G (p.Ile383Val)
c.2149A>G (p.Ile717Val)
c.1123A>G (p.Ile375Val)
9g.110800761A>TCA374479540MUSKc.2383A>T (p.Ile795Phe)
c.2125A>T (p.Ile709Phe)
c.2359A>T (p.Ile787Phe)
c.2095A>T (p.Ile699Phe)
c.2413A>T (p.Ile805Phe)
c.2389A>T (p.Ile797Phe)
c.2443A>T (p.Ile815Phe)
c.1147A>T (p.Ile383Phe)
c.2149A>T (p.Ile717Phe)
c.1123A>T (p.Ile375Phe)
 gnomAD v4
9g.110800762T>ACA374479542MUSKc.2384T>A (p.Ile795Asn)
c.2126T>A (p.Ile709Asn)
c.2360T>A (p.Ile787Asn)
c.2096T>A (p.Ile699Asn)
c.2414T>A (p.Ile805Asn)
c.2390T>A (p.Ile797Asn)
c.2444T>A (p.Ile815Asn)
c.1148T>A (p.Ile383Asn)
c.2150T>A (p.Ile717Asn)
c.1124T>A (p.Ile375Asn)
 gnomAD v4
9g.110800762T>CCA374479544MUSKc.2384T>C (p.Ile795Thr)
c.2126T>C (p.Ile709Thr)
c.2360T>C (p.Ile787Thr)
c.2096T>C (p.Ile699Thr)
c.2414T>C (p.Ile805Thr)
c.2390T>C (p.Ile797Thr)
c.2444T>C (p.Ile815Thr)
c.1148T>C (p.Ile383Thr)
c.2150T>C (p.Ile717Thr)
c.1124T>C (p.Ile375Thr)
9g.110800762T>GCA374479545MUSKc.2384T>G (p.Ile795Ser)
c.2126T>G (p.Ile709Ser)
c.2360T>G (p.Ile787Ser)
c.2096T>G (p.Ile699Ser)
c.2414T>G (p.Ile805Ser)
c.2390T>G (p.Ile797Ser)
c.2444T>G (p.Ile815Ser)
c.1148T>G (p.Ile383Ser)
c.2150T>G (p.Ile717Ser)
c.1124T>G (p.Ile375Ser)
 dbSNP gnomAD v4
9g.110800762T=CA1872205748MUSKc.2384T= (p.Ile795=)
c.2126T= (p.Ile709=)
c.2360T= (p.Ile787=)
c.2096T= (p.Ile699=)
c.2414T= (p.Ile805=)
c.2390T= (p.Ile797=)
c.2444T= (p.Ile815=)
c.1148T= (p.Ile383=)
c.2150T= (p.Ile717=)
c.1124T= (p.Ile375=)
9g.110800765_110800767delCA2579417167MUSKc.2387_2389del (p.Phe796del)
c.2129_2131del (p.Phe710del)
c.2363_2365del (p.Phe788del)
c.2099_2101del (p.Phe700del)
c.2417_2419del (p.Phe806del)
c.2393_2395del (p.Phe798del)
c.2447_2449del (p.Phe816del)
c.1151_1153del (p.Phe384del)
c.2153_2155del (p.Phe718del)
c.1127_1129del (p.Phe376del)
 gnomAD v4
9g.110800763C>ACA466901458MUSKc.2385C>A (p.Ile795=)
c.2127C>A (p.Ile709=)
c.2361C>A (p.Ile787=)
c.2097C>A (p.Ile699=)
c.2415C>A (p.Ile805=)
c.2391C>A (p.Ile797=)
c.2445C>A (p.Ile815=)
c.1149C>A (p.Ile383=)
c.2151C>A (p.Ile717=)
c.1125C>A (p.Ile375=)
9g.110800763C>GCA374479547MUSKc.2385C>G (p.Ile795Met)
c.2127C>G (p.Ile709Met)
c.2361C>G (p.Ile787Met)
c.2097C>G (p.Ile699Met)
c.2415C>G (p.Ile805Met)
c.2391C>G (p.Ile797Met)
c.2445C>G (p.Ile815Met)
c.1149C>G (p.Ile383Met)
c.2151C>G (p.Ile717Met)
c.1125C>G (p.Ile375Met)
9g.110800763C>TCA466901460MUSKc.2385C>T (p.Ile795=)
c.2127C>T (p.Ile709=)
c.2361C>T (p.Ile787=)
c.2097C>T (p.Ile699=)
c.2415C>T (p.Ile805=)
c.2391C>T (p.Ile797=)
c.2445C>T (p.Ile815=)
c.1149C>T (p.Ile383=)
c.2151C>T (p.Ile717=)
c.1125C>T (p.Ile375=)
 gnomAD v4 COSMIC COSMIC
9g.110800764T>ACA374479550MUSKc.2386T>A (p.Phe796Ile)
c.2128T>A (p.Phe710Ile)
c.2362T>A (p.Phe788Ile)
c.2098T>A (p.Phe700Ile)
c.2416T>A (p.Phe806Ile)
c.2392T>A (p.Phe798Ile)
c.2446T>A (p.Phe816Ile)
c.1150T>A (p.Phe384Ile)
c.2152T>A (p.Phe718Ile)
c.1126T>A (p.Phe376Ile)
9g.110800764T>CCA374479552MUSKc.2386T>C (p.Phe796Leu)
c.2128T>C (p.Phe710Leu)
c.2362T>C (p.Phe788Leu)
c.2098T>C (p.Phe700Leu)
c.2416T>C (p.Phe806Leu)
c.2392T>C (p.Phe798Leu)
c.2446T>C (p.Phe816Leu)
c.1150T>C (p.Phe384Leu)
c.2152T>C (p.Phe718Leu)
c.1126T>C (p.Phe376Leu)
9g.110800764T>GCA374479549MUSKc.2386T>G (p.Phe796Val)
c.2128T>G (p.Phe710Val)
c.2362T>G (p.Phe788Val)
c.2098T>G (p.Phe700Val)
c.2416T>G (p.Phe806Val)
c.2392T>G (p.Phe798Val)
c.2446T>G (p.Phe816Val)
c.1150T>G (p.Phe384Val)
c.2152T>G (p.Phe718Val)
c.1126T>G (p.Phe376Val)
9g.110800765T>ACA374479554MUSKc.2387T>A (p.Phe796Tyr)
c.2129T>A (p.Phe710Tyr)
c.2363T>A (p.Phe788Tyr)
c.2099T>A (p.Phe700Tyr)
c.2417T>A (p.Phe806Tyr)
c.2393T>A (p.Phe798Tyr)
c.2447T>A (p.Phe816Tyr)
c.1151T>A (p.Phe384Tyr)
c.2153T>A (p.Phe718Tyr)
c.1127T>A (p.Phe376Tyr)
9g.110800765T>CCA374479555MUSKc.2387T>C (p.Phe796Ser)
c.2129T>C (p.Phe710Ser)
c.2363T>C (p.Phe788Ser)
c.2099T>C (p.Phe700Ser)
c.2417T>C (p.Phe806Ser)
c.2393T>C (p.Phe798Ser)
c.2447T>C (p.Phe816Ser)
c.1151T>C (p.Phe384Ser)
c.2153T>C (p.Phe718Ser)
c.1127T>C (p.Phe376Ser)
 gnomAD v4
9g.110800765T>GCA374479556MUSKc.2387T>G (p.Phe796Cys)
c.2129T>G (p.Phe710Cys)
c.2363T>G (p.Phe788Cys)
c.2099T>G (p.Phe700Cys)
c.2417T>G (p.Phe806Cys)
c.2393T>G (p.Phe798Cys)
c.2447T>G (p.Phe816Cys)
c.1151T>G (p.Phe384Cys)
c.2153T>G (p.Phe718Cys)
c.1127T>G (p.Phe376Cys)
9g.110800766C>ACA374479557MUSKc.2388C>A (p.Phe796Leu)
c.2130C>A (p.Phe710Leu)
c.2364C>A (p.Phe788Leu)
c.2100C>A (p.Phe700Leu)
c.2418C>A (p.Phe806Leu)
c.2394C>A (p.Phe798Leu)
c.2448C>A (p.Phe816Leu)
c.1152C>A (p.Phe384Leu)
c.2154C>A (p.Phe718Leu)
c.1128C>A (p.Phe376Leu)
 COSMIC
9g.110800766C=CA1872205749MUSKc.2388C= (p.Phe796=)
c.2130C= (p.Phe710=)
c.2364C= (p.Phe788=)
c.2100C= (p.Phe700=)
c.2418C= (p.Phe806=)
c.2394C= (p.Phe798=)
c.2448C= (p.Phe816=)
c.1152C= (p.Phe384=)
c.2154C= (p.Phe718=)
c.1128C= (p.Phe376=)
9g.110800766C>GCA5184618MUSKc.2388C>G (p.Phe796Leu)
c.2130C>G (p.Phe710Leu)
c.2364C>G (p.Phe788Leu)
c.2100C>G (p.Phe700Leu)
c.2418C>G (p.Phe806Leu)
c.2394C>G (p.Phe798Leu)
c.2448C>G (p.Phe816Leu)
c.1152C>G (p.Phe384Leu)
c.2154C>G (p.Phe718Leu)
c.1128C>G (p.Phe376Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800766C>TCA198363776MUSKc.2388C>T (p.Phe796=)
c.2130C>T (p.Phe710=)
c.2364C>T (p.Phe788=)
c.2100C>T (p.Phe700=)
c.2418C>T (p.Phe806=)
c.2394C>T (p.Phe798=)
c.2448C>T (p.Phe816=)
c.1152C>T (p.Phe384=)
c.2154C>T (p.Phe718=)
c.1128C>T (p.Phe376=)
 dbSNP gnomAD v4
9g.110800767T>ACA374479562MUSKc.2389T>A (p.Ser797Thr)
c.2131T>A (p.Ser711Thr)
c.2365T>A (p.Ser789Thr)
c.2101T>A (p.Ser701Thr)
c.2419T>A (p.Ser807Thr)
c.2395T>A (p.Ser799Thr)
c.2449T>A (p.Ser817Thr)
c.1153T>A (p.Ser385Thr)
c.2155T>A (p.Ser719Thr)
c.1129T>A (p.Ser377Thr)
9g.110800767T>CCA374479563MUSKc.2389T>C (p.Ser797Pro)
c.2131T>C (p.Ser711Pro)
c.2365T>C (p.Ser789Pro)
c.2101T>C (p.Ser701Pro)
c.2419T>C (p.Ser807Pro)
c.2395T>C (p.Ser799Pro)
c.2449T>C (p.Ser817Pro)
c.1153T>C (p.Ser385Pro)
c.2155T>C (p.Ser719Pro)
c.1129T>C (p.Ser377Pro)
9g.110800767T>GCA374479565MUSKc.2389T>G (p.Ser797Ala)
c.2131T>G (p.Ser711Ala)
c.2365T>G (p.Ser789Ala)
c.2101T>G (p.Ser701Ala)
c.2419T>G (p.Ser807Ala)
c.2395T>G (p.Ser799Ala)
c.2449T>G (p.Ser817Ala)
c.1153T>G (p.Ser385Ala)
c.2155T>G (p.Ser719Ala)
c.1129T>G (p.Ser377Ala)
 dbSNP gnomAD v2 gnomAD v4
9g.110800767T=CA1872205750MUSKc.2389T= (p.Ser797=)
c.2131T= (p.Ser711=)
c.2365T= (p.Ser789=)
c.2101T= (p.Ser701=)
c.2419T= (p.Ser807=)
c.2395T= (p.Ser799=)
c.2449T= (p.Ser817=)
c.1153T= (p.Ser385=)
c.2155T= (p.Ser719=)
c.1129T= (p.Ser377=)
9g.110800768C>ACA374479567MUSKc.2390C>A (p.Ser797Tyr)
c.2132C>A (p.Ser711Tyr)
c.2366C>A (p.Ser789Tyr)
c.2102C>A (p.Ser701Tyr)
c.2420C>A (p.Ser807Tyr)
c.2396C>A (p.Ser799Tyr)
c.2450C>A (p.Ser817Tyr)
c.1154C>A (p.Ser385Tyr)
c.2156C>A (p.Ser719Tyr)
c.1130C>A (p.Ser377Tyr)
9g.110800768C>GCA374479568MUSKc.2390C>G (p.Ser797Cys)
c.2132C>G (p.Ser711Cys)
c.2366C>G (p.Ser789Cys)
c.2102C>G (p.Ser701Cys)
c.2420C>G (p.Ser807Cys)
c.2396C>G (p.Ser799Cys)
c.2450C>G (p.Ser817Cys)
c.1154C>G (p.Ser385Cys)
c.2156C>G (p.Ser719Cys)
c.1130C>G (p.Ser377Cys)
9g.110800768C>TCA374479570MUSKc.2390C>T (p.Ser797Phe)
c.2132C>T (p.Ser711Phe)
c.2366C>T (p.Ser789Phe)
c.2102C>T (p.Ser701Phe)
c.2420C>T (p.Ser807Phe)
c.2396C>T (p.Ser799Phe)
c.2450C>T (p.Ser817Phe)
c.1154C>T (p.Ser385Phe)
c.2156C>T (p.Ser719Phe)
c.1130C>T (p.Ser377Phe)
 COSMIC COSMIC
9g.110800769C>ACA466901478MUSKc.2391C>A (p.Ser797=)
c.2133C>A (p.Ser711=)
c.2367C>A (p.Ser789=)
c.2103C>A (p.Ser701=)
c.2421C>A (p.Ser807=)
c.2397C>A (p.Ser799=)
c.2451C>A (p.Ser817=)
c.1155C>A (p.Ser385=)
c.2157C>A (p.Ser719=)
c.1131C>A (p.Ser377=)
 COSMIC
9g.110800769C>GCA466901480MUSKc.2391C>G (p.Ser797=)
c.2133C>G (p.Ser711=)
c.2367C>G (p.Ser789=)
c.2103C>G (p.Ser701=)
c.2421C>G (p.Ser807=)
c.2397C>G (p.Ser799=)
c.2451C>G (p.Ser817=)
c.1155C>G (p.Ser385=)
c.2157C>G (p.Ser719=)
c.1131C>G (p.Ser377=)
 gnomAD v4
9g.110800769C>TCA466901482MUSKc.2391C>T (p.Ser797=)
c.2133C>T (p.Ser711=)
c.2367C>T (p.Ser789=)
c.2103C>T (p.Ser701=)
c.2421C>T (p.Ser807=)
c.2397C>T (p.Ser799=)
c.2451C>T (p.Ser817=)
c.1155C>T (p.Ser385=)
c.2157C>T (p.Ser719=)
c.1131C>T (p.Ser377=)
9g.110800770T>ACA374479575MUSKc.2392T>A (p.Tyr798Asn)
c.2134T>A (p.Tyr712Asn)
c.2368T>A (p.Tyr790Asn)
c.2104T>A (p.Tyr702Asn)
c.2422T>A (p.Tyr808Asn)
c.2398T>A (p.Tyr800Asn)
c.2452T>A (p.Tyr818Asn)
c.1156T>A (p.Tyr386Asn)
c.2158T>A (p.Tyr720Asn)
c.1132T>A (p.Tyr378Asn)
9g.110800770T>CCA374479572MUSKc.2392T>C (p.Tyr798His)
c.2134T>C (p.Tyr712His)
c.2368T>C (p.Tyr790His)
c.2104T>C (p.Tyr702His)
c.2422T>C (p.Tyr808His)
c.2398T>C (p.Tyr800His)
c.2452T>C (p.Tyr818His)
c.1156T>C (p.Tyr386His)
c.2158T>C (p.Tyr720His)
c.1132T>C (p.Tyr378His)
9g.110800770T>GCA374479573MUSKc.2392T>G (p.Tyr798Asp)
c.2134T>G (p.Tyr712Asp)
c.2368T>G (p.Tyr790Asp)
c.2104T>G (p.Tyr702Asp)
c.2422T>G (p.Tyr808Asp)
c.2398T>G (p.Tyr800Asp)
c.2452T>G (p.Tyr818Asp)
c.1156T>G (p.Tyr386Asp)
c.2158T>G (p.Tyr720Asp)
c.1132T>G (p.Tyr378Asp)
9g.110800771A=CA1872205751MUSKc.2393A= (p.Tyr798=)
c.2135A= (p.Tyr712=)
c.2369A= (p.Tyr790=)
c.2105A= (p.Tyr702=)
c.2423A= (p.Tyr808=)
c.2399A= (p.Tyr800=)
c.2453A= (p.Tyr818=)
c.1157A= (p.Tyr386=)
c.2159A= (p.Tyr720=)
c.1133A= (p.Tyr378=)
9g.110800771A>CCA374479580MUSKc.2393A>C (p.Tyr798Ser)
c.2135A>C (p.Tyr712Ser)
c.2369A>C (p.Tyr790Ser)
c.2105A>C (p.Tyr702Ser)
c.2423A>C (p.Tyr808Ser)
c.2399A>C (p.Tyr800Ser)
c.2453A>C (p.Tyr818Ser)
c.1157A>C (p.Tyr386Ser)
c.2159A>C (p.Tyr720Ser)
c.1133A>C (p.Tyr378Ser)
9g.110800771A>GCA5184619MUSKc.2393A>G (p.Tyr798Cys)
c.2135A>G (p.Tyr712Cys)
c.2369A>G (p.Tyr790Cys)
c.2105A>G (p.Tyr702Cys)
c.2423A>G (p.Tyr808Cys)
c.2399A>G (p.Tyr800Cys)
c.2453A>G (p.Tyr818Cys)
c.1157A>G (p.Tyr386Cys)
c.2159A>G (p.Tyr720Cys)
c.1133A>G (p.Tyr378Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800771A>TCA374479582MUSKc.2393A>T (p.Tyr798Phe)
c.2135A>T (p.Tyr712Phe)
c.2369A>T (p.Tyr790Phe)
c.2105A>T (p.Tyr702Phe)
c.2423A>T (p.Tyr808Phe)
c.2399A>T (p.Tyr800Phe)
c.2453A>T (p.Tyr818Phe)
c.1157A>T (p.Tyr386Phe)
c.2159A>T (p.Tyr720Phe)
c.1133A>T (p.Tyr378Phe)
9g.110800772T>ACA374479584MUSKc.2394T>A (p.Tyr798Ter)
c.2136T>A (p.Tyr712Ter)
c.2370T>A (p.Tyr790Ter)
c.2106T>A (p.Tyr702Ter)
c.2424T>A (p.Tyr808Ter)
c.2400T>A (p.Tyr800Ter)
c.2454T>A (p.Tyr818Ter)
c.1158T>A (p.Tyr386Ter)
c.2160T>A (p.Tyr720Ter)
c.1134T>A (p.Tyr378Ter)
9g.110800772T>CCA5184620MUSKc.2394T>C (p.Tyr798=)
c.2136T>C (p.Tyr712=)
c.2370T>C (p.Tyr790=)
c.2106T>C (p.Tyr702=)
c.2424T>C (p.Tyr808=)
c.2400T>C (p.Tyr800=)
c.2454T>C (p.Tyr818=)
c.1158T>C (p.Tyr386=)
c.2160T>C (p.Tyr720=)
c.1134T>C (p.Tyr378=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800772T>GCA374479586MUSKc.2394T>G (p.Tyr798Ter)
c.2136T>G (p.Tyr712Ter)
c.2370T>G (p.Tyr790Ter)
c.2106T>G (p.Tyr702Ter)
c.2424T>G (p.Tyr808Ter)
c.2400T>G (p.Tyr800Ter)
c.2454T>G (p.Tyr818Ter)
c.1158T>G (p.Tyr386Ter)
c.2160T>G (p.Tyr720Ter)
c.1134T>G (p.Tyr378Ter)
9g.110800772T=CA1872205752MUSKc.2394T= (p.Tyr798=)
c.2136T= (p.Tyr712=)
c.2370T= (p.Tyr790=)
c.2106T= (p.Tyr702=)
c.2424T= (p.Tyr808=)
c.2400T= (p.Tyr800=)
c.2454T= (p.Tyr818=)
c.1158T= (p.Tyr386=)
c.2160T= (p.Tyr720=)
c.1134T= (p.Tyr378=)
9g.110800773G>ACA374479588MUSKc.2395G>A (p.Gly799Ser)
c.2137G>A (p.Gly713Ser)
c.2371G>A (p.Gly791Ser)
c.2107G>A (p.Gly703Ser)
c.2425G>A (p.Gly809Ser)
c.2401G>A (p.Gly801Ser)
c.2455G>A (p.Gly819Ser)
c.1159G>A (p.Gly387Ser)
c.2161G>A (p.Gly721Ser)
c.1135G>A (p.Gly379Ser)
9g.110800773G>CCA374479589MUSKc.2395G>C (p.Gly799Arg)
c.2137G>C (p.Gly713Arg)
c.2371G>C (p.Gly791Arg)
c.2107G>C (p.Gly703Arg)
c.2425G>C (p.Gly809Arg)
c.2401G>C (p.Gly801Arg)
c.2455G>C (p.Gly819Arg)
c.1159G>C (p.Gly387Arg)
c.2161G>C (p.Gly721Arg)
c.1135G>C (p.Gly379Arg)
9g.110800773G>TCA374479590MUSKc.2395G>T (p.Gly799Cys)
c.2137G>T (p.Gly713Cys)
c.2371G>T (p.Gly791Cys)
c.2107G>T (p.Gly703Cys)
c.2425G>T (p.Gly809Cys)
c.2401G>T (p.Gly801Cys)
c.2455G>T (p.Gly819Cys)
c.1159G>T (p.Gly387Cys)
c.2161G>T (p.Gly721Cys)
c.1135G>T (p.Gly379Cys)
9g.110800774G>ACA374479591MUSKc.2396G>A (p.Gly799Asp)
c.2138G>A (p.Gly713Asp)
c.2372G>A (p.Gly791Asp)
c.2108G>A (p.Gly703Asp)
c.2426G>A (p.Gly809Asp)
c.2402G>A (p.Gly801Asp)
c.2456G>A (p.Gly819Asp)
c.1160G>A (p.Gly387Asp)
c.2162G>A (p.Gly721Asp)
c.1136G>A (p.Gly379Asp)
9g.110800774G>CCA374479593MUSKc.2396G>C (p.Gly799Ala)
c.2138G>C (p.Gly713Ala)
c.2372G>C (p.Gly791Ala)
c.2108G>C (p.Gly703Ala)
c.2426G>C (p.Gly809Ala)
c.2402G>C (p.Gly801Ala)
c.2456G>C (p.Gly819Ala)
c.1160G>C (p.Gly387Ala)
c.2162G>C (p.Gly721Ala)
c.1136G>C (p.Gly379Ala)
9g.110800774G>TCA374479594MUSKc.2396G>T (p.Gly799Val)
c.2138G>T (p.Gly713Val)
c.2372G>T (p.Gly791Val)
c.2108G>T (p.Gly703Val)
c.2426G>T (p.Gly809Val)
c.2402G>T (p.Gly801Val)
c.2456G>T (p.Gly819Val)
c.1160G>T (p.Gly387Val)
c.2162G>T (p.Gly721Val)
c.1136G>T (p.Gly379Val)
9g.110800775C>ACA466901495MUSKc.2397C>A (p.Gly799=)
c.2139C>A (p.Gly713=)
c.2373C>A (p.Gly791=)
c.2109C>A (p.Gly703=)
c.2427C>A (p.Gly809=)
c.2403C>A (p.Gly801=)
c.2457C>A (p.Gly819=)
c.1161C>A (p.Gly387=)
c.2163C>A (p.Gly721=)
c.1137C>A (p.Gly379=)
 COSMIC COSMIC
9g.110800775C=CA1872205753MUSKc.2397C= (p.Gly799=)
c.2139C= (p.Gly713=)
c.2373C= (p.Gly791=)
c.2109C= (p.Gly703=)
c.2427C= (p.Gly809=)
c.2403C= (p.Gly801=)
c.2457C= (p.Gly819=)
c.1161C= (p.Gly387=)
c.2163C= (p.Gly721=)
c.1137C= (p.Gly379=)
9g.110800775C>GCA466901496MUSKc.2397C>G (p.Gly799=)
c.2139C>G (p.Gly713=)
c.2373C>G (p.Gly791=)
c.2109C>G (p.Gly703=)
c.2427C>G (p.Gly809=)
c.2403C>G (p.Gly801=)
c.2457C>G (p.Gly819=)
c.1161C>G (p.Gly387=)
c.2163C>G (p.Gly721=)
c.1137C>G (p.Gly379=)
9g.110800775C>TCA5184621MUSKc.2397C>T (p.Gly799=)
c.2139C>T (p.Gly713=)
c.2373C>T (p.Gly791=)
c.2109C>T (p.Gly703=)
c.2427C>T (p.Gly809=)
c.2403C>T (p.Gly801=)
c.2457C>T (p.Gly819=)
c.1161C>T (p.Gly387=)
c.2163C>T (p.Gly721=)
c.1137C>T (p.Gly379=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800776C>ACA374479599MUSKc.2398C>A (p.Leu800Met)
c.2140C>A (p.Leu714Met)
c.2374C>A (p.Leu792Met)
c.2110C>A (p.Leu704Met)
c.2428C>A (p.Leu810Met)
c.2404C>A (p.Leu802Met)
c.2458C>A (p.Leu820Met)
c.1162C>A (p.Leu388Met)
c.2164C>A (p.Leu722Met)
c.1138C>A (p.Leu380Met)
9g.110800776C=CA1872205754MUSKc.2398C= (p.Leu800=)
c.2140C= (p.Leu714=)
c.2374C= (p.Leu792=)
c.2110C= (p.Leu704=)
c.2428C= (p.Leu810=)
c.2404C= (p.Leu802=)
c.2458C= (p.Leu820=)
c.1162C= (p.Leu388=)
c.2164C= (p.Leu722=)
c.1138C= (p.Leu380=)
9g.110800776C>GCA374479597MUSKc.2398C>G (p.Leu800Val)
c.2140C>G (p.Leu714Val)
c.2374C>G (p.Leu792Val)
c.2110C>G (p.Leu704Val)
c.2428C>G (p.Leu810Val)
c.2404C>G (p.Leu802Val)
c.2458C>G (p.Leu820Val)
c.1162C>G (p.Leu388Val)
c.2164C>G (p.Leu722Val)
c.1138C>G (p.Leu380Val)
9g.110800776C>TCA466901501MUSKc.2398C>T (p.Leu800=)
c.2140C>T (p.Leu714=)
c.2374C>T (p.Leu792=)
c.2110C>T (p.Leu704=)
c.2428C>T (p.Leu810=)
c.2404C>T (p.Leu802=)
c.2458C>T (p.Leu820=)
c.1162C>T (p.Leu388=)
c.2164C>T (p.Leu722=)
c.1138C>T (p.Leu380=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.110800777T>ACA374479600MUSKc.2399T>A (p.Leu800Gln)
c.2141T>A (p.Leu714Gln)
c.2375T>A (p.Leu792Gln)
c.2111T>A (p.Leu704Gln)
c.2429T>A (p.Leu810Gln)
c.2405T>A (p.Leu802Gln)
c.2459T>A (p.Leu820Gln)
c.1163T>A (p.Leu388Gln)
c.2165T>A (p.Leu722Gln)
c.1139T>A (p.Leu380Gln)
9g.110800777T>CCA374479602MUSKc.2399T>C (p.Leu800Pro)
c.2141T>C (p.Leu714Pro)
c.2375T>C (p.Leu792Pro)
c.2111T>C (p.Leu704Pro)
c.2429T>C (p.Leu810Pro)
c.2405T>C (p.Leu802Pro)
c.2459T>C (p.Leu820Pro)
c.1163T>C (p.Leu388Pro)
c.2165T>C (p.Leu722Pro)
c.1139T>C (p.Leu380Pro)
9g.110800777T>GCA374479601MUSKc.2399T>G (p.Leu800Arg)
c.2141T>G (p.Leu714Arg)
c.2375T>G (p.Leu792Arg)
c.2111T>G (p.Leu704Arg)
c.2429T>G (p.Leu810Arg)
c.2405T>G (p.Leu802Arg)
c.2459T>G (p.Leu820Arg)
c.1163T>G (p.Leu388Arg)
c.2165T>G (p.Leu722Arg)
c.1139T>G (p.Leu380Arg)
9g.110800778G>ACA466901508MUSKc.2400G>A (p.Leu800=)
c.2142G>A (p.Leu714=)
c.2376G>A (p.Leu792=)
c.2112G>A (p.Leu704=)
c.2430G>A (p.Leu810=)
c.2406G>A (p.Leu802=)
c.2460G>A (p.Leu820=)
c.1164G>A (p.Leu388=)
c.2166G>A (p.Leu722=)
c.1140G>A (p.Leu380=)
 dbSNP gnomAD v2 gnomAD v4
9g.110800778G>CCA466901511MUSKc.2400G>C (p.Leu800=)
c.2142G>C (p.Leu714=)
c.2376G>C (p.Leu792=)
c.2112G>C (p.Leu704=)
c.2430G>C (p.Leu810=)
c.2406G>C (p.Leu802=)
c.2460G>C (p.Leu820=)
c.1164G>C (p.Leu388=)
c.2166G>C (p.Leu722=)
c.1140G>C (p.Leu380=)
9g.110800778G=CA1872205755MUSKc.2400G= (p.Leu800=)
c.2142G= (p.Leu714=)
c.2376G= (p.Leu792=)
c.2112G= (p.Leu704=)
c.2430G= (p.Leu810=)
c.2406G= (p.Leu802=)
c.2460G= (p.Leu820=)
c.1164G= (p.Leu388=)
c.2166G= (p.Leu722=)
c.1140G= (p.Leu380=)
9g.110800778G>TCA466901515MUSKc.2400G>T (p.Leu800=)
c.2142G>T (p.Leu714=)
c.2376G>T (p.Leu792=)
c.2112G>T (p.Leu704=)
c.2430G>T (p.Leu810=)
c.2406G>T (p.Leu802=)
c.2460G>T (p.Leu820=)
c.1164G>T (p.Leu388=)
c.2166G>T (p.Leu722=)
c.1140G>T (p.Leu380=)
9g.110800779C>ACA374479604MUSKc.2401C>A (p.Gln801Lys)
c.2143C>A (p.Gln715Lys)
c.2377C>A (p.Gln793Lys)
c.2113C>A (p.Gln705Lys)
c.2431C>A (p.Gln811Lys)
c.2407C>A (p.Gln803Lys)
c.2461C>A (p.Gln821Lys)
c.1165C>A (p.Gln389Lys)
c.2167C>A (p.Gln723Lys)
c.1141C>A (p.Gln381Lys)
9g.110800779C>GCA374479605MUSKc.2401C>G (p.Gln801Glu)
c.2143C>G (p.Gln715Glu)
c.2377C>G (p.Gln793Glu)
c.2113C>G (p.Gln705Glu)
c.2431C>G (p.Gln811Glu)
c.2407C>G (p.Gln803Glu)
c.2461C>G (p.Gln821Glu)
c.1165C>G (p.Gln389Glu)
c.2167C>G (p.Gln723Glu)
c.1141C>G (p.Gln381Glu)
9g.110800779C>TCA374479606MUSKc.2401C>T (p.Gln801Ter)
c.2143C>T (p.Gln715Ter)
c.2377C>T (p.Gln793Ter)
c.2113C>T (p.Gln705Ter)
c.2431C>T (p.Gln811Ter)
c.2407C>T (p.Gln803Ter)
c.2461C>T (p.Gln821Ter)
c.1165C>T (p.Gln389Ter)
c.2167C>T (p.Gln723Ter)
c.1141C>T (p.Gln381Ter)
9g.110800780A>CCA374479608MUSKc.2402A>C (p.Gln801Pro)
c.2144A>C (p.Gln715Pro)
c.2378A>C (p.Gln793Pro)
c.2114A>C (p.Gln705Pro)
c.2432A>C (p.Gln811Pro)
c.2408A>C (p.Gln803Pro)
c.2462A>C (p.Gln821Pro)
c.1166A>C (p.Gln389Pro)
c.2168A>C (p.Gln723Pro)
c.1142A>C (p.Gln381Pro)
9g.110800780A>GCA374479610MUSKc.2402A>G (p.Gln801Arg)
c.2144A>G (p.Gln715Arg)
c.2378A>G (p.Gln793Arg)
c.2114A>G (p.Gln705Arg)
c.2432A>G (p.Gln811Arg)
c.2408A>G (p.Gln803Arg)
c.2462A>G (p.Gln821Arg)
c.1166A>G (p.Gln389Arg)
c.2168A>G (p.Gln723Arg)
c.1142A>G (p.Gln381Arg)
9g.110800780A>TCA374479611MUSKc.2402A>T (p.Gln801Leu)
c.2144A>T (p.Gln715Leu)
c.2378A>T (p.Gln793Leu)
c.2114A>T (p.Gln705Leu)
c.2432A>T (p.Gln811Leu)
c.2408A>T (p.Gln803Leu)
c.2462A>T (p.Gln821Leu)
c.1166A>T (p.Gln389Leu)
c.2168A>T (p.Gln723Leu)
c.1142A>T (p.Gln381Leu)
9g.110800781G>ACA5184622MUSKc.2403G>A (p.Gln801=)
c.2145G>A (p.Gln715=)
c.2379G>A (p.Gln793=)
c.2115G>A (p.Gln705=)
c.2433G>A (p.Gln811=)
c.2409G>A (p.Gln803=)
c.2463G>A (p.Gln821=)
c.1167G>A (p.Gln389=)
c.2169G>A (p.Gln723=)
c.1143G>A (p.Gln381=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800781G>CCA374479614MUSKc.2403G>C (p.Gln801His)
c.2145G>C (p.Gln715His)
c.2379G>C (p.Gln793His)
c.2115G>C (p.Gln705His)
c.2433G>C (p.Gln811His)
c.2409G>C (p.Gln803His)
c.2463G>C (p.Gln821His)
c.1167G>C (p.Gln389His)
c.2169G>C (p.Gln723His)
c.1143G>C (p.Gln381His)
9g.110800781G=CA1872205756MUSKc.2403G= (p.Gln801=)
c.2145G= (p.Gln715=)
c.2379G= (p.Gln793=)
c.2115G= (p.Gln705=)
c.2433G= (p.Gln811=)
c.2409G= (p.Gln803=)
c.2463G= (p.Gln821=)
c.1167G= (p.Gln389=)
c.2169G= (p.Gln723=)
c.1143G= (p.Gln381=)
9g.110800781G>TCA374479616MUSKc.2403G>T (p.Gln801His)
c.2145G>T (p.Gln715His)
c.2379G>T (p.Gln793His)
c.2115G>T (p.Gln705His)
c.2433G>T (p.Gln811His)
c.2409G>T (p.Gln803His)
c.2463G>T (p.Gln821His)
c.1167G>T (p.Gln389His)
c.2169G>T (p.Gln723His)
c.1143G>T (p.Gln381His)
9g.110800782C>ACA374479617MUSKc.2404C>A (p.Pro802Thr)
c.2146C>A (p.Pro716Thr)
c.2380C>A (p.Pro794Thr)
c.2116C>A (p.Pro706Thr)
c.2434C>A (p.Pro812Thr)
c.2410C>A (p.Pro804Thr)
c.2464C>A (p.Pro822Thr)
c.1168C>A (p.Pro390Thr)
c.2170C>A (p.Pro724Thr)
c.1144C>A (p.Pro382Thr)
9g.110800782C>GCA374479619MUSKc.2404C>G (p.Pro802Ala)
c.2146C>G (p.Pro716Ala)
c.2380C>G (p.Pro794Ala)
c.2116C>G (p.Pro706Ala)
c.2434C>G (p.Pro812Ala)
c.2410C>G (p.Pro804Ala)
c.2464C>G (p.Pro822Ala)
c.1168C>G (p.Pro390Ala)
c.2170C>G (p.Pro724Ala)
c.1144C>G (p.Pro382Ala)
9g.110800782C>TCA374479624MUSKc.2404C>T (p.Pro802Ser)
c.2146C>T (p.Pro716Ser)
c.2380C>T (p.Pro794Ser)
c.2116C>T (p.Pro706Ser)
c.2434C>T (p.Pro812Ser)
c.2410C>T (p.Pro804Ser)
c.2464C>T (p.Pro822Ser)
c.1168C>T (p.Pro390Ser)
c.2170C>T (p.Pro724Ser)
c.1144C>T (p.Pro382Ser)
 gnomAD v4
9g.110800783C>ACA374479630MUSKc.2405C>A (p.Pro802His)
c.2147C>A (p.Pro716His)
c.2381C>A (p.Pro794His)
c.2117C>A (p.Pro706His)
c.2435C>A (p.Pro812His)
c.2411C>A (p.Pro804His)
c.2465C>A (p.Pro822His)
c.1169C>A (p.Pro390His)
c.2171C>A (p.Pro724His)
c.1145C>A (p.Pro382His)
9g.110800783C>GCA374479627MUSKc.2405C>G (p.Pro802Arg)
c.2147C>G (p.Pro716Arg)
c.2381C>G (p.Pro794Arg)
c.2117C>G (p.Pro706Arg)
c.2435C>G (p.Pro812Arg)
c.2411C>G (p.Pro804Arg)
c.2465C>G (p.Pro822Arg)
c.1169C>G (p.Pro390Arg)
c.2171C>G (p.Pro724Arg)
c.1145C>G (p.Pro382Arg)
 gnomAD v4
9g.110800783C>TCA374479628MUSKc.2405C>T (p.Pro802Leu)
c.2147C>T (p.Pro716Leu)
c.2381C>T (p.Pro794Leu)
c.2117C>T (p.Pro706Leu)
c.2435C>T (p.Pro812Leu)
c.2411C>T (p.Pro804Leu)
c.2465C>T (p.Pro822Leu)
c.1169C>T (p.Pro390Leu)
c.2171C>T (p.Pro724Leu)
c.1145C>T (p.Pro382Leu)
9g.110800784C>ACA466901531MUSKc.2406C>A (p.Pro802=)
c.2148C>A (p.Pro716=)
c.2382C>A (p.Pro794=)
c.2118C>A (p.Pro706=)
c.2436C>A (p.Pro812=)
c.2412C>A (p.Pro804=)
c.2466C>A (p.Pro822=)
c.1170C>A (p.Pro390=)
c.2172C>A (p.Pro724=)
c.1146C>A (p.Pro382=)
9g.110800784C=CA1872205757MUSKc.2406C= (p.Pro802=)
c.2148C= (p.Pro716=)
c.2382C= (p.Pro794=)
c.2118C= (p.Pro706=)
c.2436C= (p.Pro812=)
c.2412C= (p.Pro804=)
c.2466C= (p.Pro822=)
c.1170C= (p.Pro390=)
c.2172C= (p.Pro724=)
c.1146C= (p.Pro382=)
9g.110800784C>GCA466901530MUSKc.2406C>G (p.Pro802=)
c.2148C>G (p.Pro716=)
c.2382C>G (p.Pro794=)
c.2118C>G (p.Pro706=)
c.2436C>G (p.Pro812=)
c.2412C>G (p.Pro804=)
c.2466C>G (p.Pro822=)
c.1170C>G (p.Pro390=)
c.2172C>G (p.Pro724=)
c.1146C>G (p.Pro382=)
 gnomAD v4
9g.110800784C>TCA466901529MUSKc.2406C>T (p.Pro802=)
c.2148C>T (p.Pro716=)
c.2382C>T (p.Pro794=)
c.2118C>T (p.Pro706=)
c.2436C>T (p.Pro812=)
c.2412C>T (p.Pro804=)
c.2466C>T (p.Pro822=)
c.1170C>T (p.Pro390=)
c.2172C>T (p.Pro724=)
c.1146C>T (p.Pro382=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.110800785T>ACA374479631MUSKc.2407T>A (p.Tyr803Asn)
c.2149T>A (p.Tyr717Asn)
c.2383T>A (p.Tyr795Asn)
c.2119T>A (p.Tyr707Asn)
c.2437T>A (p.Tyr813Asn)
c.2413T>A (p.Tyr805Asn)
c.2467T>A (p.Tyr823Asn)
c.1171T>A (p.Tyr391Asn)
c.2173T>A (p.Tyr725Asn)
c.1147T>A (p.Tyr383Asn)
9g.110800785T>CCA374479633MUSKc.2407T>C (p.Tyr803His)
c.2149T>C (p.Tyr717His)
c.2383T>C (p.Tyr795His)
c.2119T>C (p.Tyr707His)
c.2437T>C (p.Tyr813His)
c.2413T>C (p.Tyr805His)
c.2467T>C (p.Tyr823His)
c.1171T>C (p.Tyr391His)
c.2173T>C (p.Tyr725His)
c.1147T>C (p.Tyr383His)
9g.110800785T>GCA374479635MUSKc.2407T>G (p.Tyr803Asp)
c.2149T>G (p.Tyr717Asp)
c.2383T>G (p.Tyr795Asp)
c.2119T>G (p.Tyr707Asp)
c.2437T>G (p.Tyr813Asp)
c.2413T>G (p.Tyr805Asp)
c.2467T>G (p.Tyr823Asp)
c.1171T>G (p.Tyr391Asp)
c.2173T>G (p.Tyr725Asp)
c.1147T>G (p.Tyr383Asp)
9g.110800786A=CA1872205758MUSKc.2408A= (p.Tyr803=)
c.2150A= (p.Tyr717=)
c.2384A= (p.Tyr795=)
c.2120A= (p.Tyr707=)
c.2438A= (p.Tyr813=)
c.2414A= (p.Tyr805=)
c.2468A= (p.Tyr823=)
c.1172A= (p.Tyr391=)
c.2174A= (p.Tyr725=)
c.1148A= (p.Tyr383=)
9g.110800786A>CCA374479638MUSKc.2408A>C (p.Tyr803Ser)
c.2150A>C (p.Tyr717Ser)
c.2384A>C (p.Tyr795Ser)
c.2120A>C (p.Tyr707Ser)
c.2438A>C (p.Tyr813Ser)
c.2414A>C (p.Tyr805Ser)
c.2468A>C (p.Tyr823Ser)
c.1172A>C (p.Tyr391Ser)
c.2174A>C (p.Tyr725Ser)
c.1148A>C (p.Tyr383Ser)
 gnomAD v4
9g.110800786A>GCA198363795MUSKc.2408A>G (p.Tyr803Cys)
c.2150A>G (p.Tyr717Cys)
c.2384A>G (p.Tyr795Cys)
c.2120A>G (p.Tyr707Cys)
c.2438A>G (p.Tyr813Cys)
c.2414A>G (p.Tyr805Cys)
c.2468A>G (p.Tyr823Cys)
c.1172A>G (p.Tyr391Cys)
c.2174A>G (p.Tyr725Cys)
c.1148A>G (p.Tyr383Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.110800786A>TCA374479640MUSKc.2408A>T (p.Tyr803Phe)
c.2150A>T (p.Tyr717Phe)
c.2384A>T (p.Tyr795Phe)
c.2120A>T (p.Tyr707Phe)
c.2438A>T (p.Tyr813Phe)
c.2414A>T (p.Tyr805Phe)
c.2468A>T (p.Tyr823Phe)
c.1172A>T (p.Tyr391Phe)
c.2174A>T (p.Tyr725Phe)
c.1148A>T (p.Tyr383Phe)
9g.110800787C>ACA374479641MUSKc.2409C>A (p.Tyr803Ter)
c.2151C>A (p.Tyr717Ter)
c.2385C>A (p.Tyr795Ter)
c.2121C>A (p.Tyr707Ter)
c.2439C>A (p.Tyr813Ter)
c.2415C>A (p.Tyr805Ter)
c.2469C>A (p.Tyr823Ter)
c.1173C>A (p.Tyr391Ter)
c.2175C>A (p.Tyr725Ter)
c.1149C>A (p.Tyr383Ter)
9g.110800787C>GCA374479643MUSKc.2409C>G (p.Tyr803Ter)
c.2151C>G (p.Tyr717Ter)
c.2385C>G (p.Tyr795Ter)
c.2121C>G (p.Tyr707Ter)
c.2439C>G (p.Tyr813Ter)
c.2415C>G (p.Tyr805Ter)
c.2469C>G (p.Tyr823Ter)
c.1173C>G (p.Tyr391Ter)
c.2175C>G (p.Tyr725Ter)
c.1149C>G (p.Tyr383Ter)
9g.110800787C>TCA466901539MUSKc.2409C>T (p.Tyr803=)
c.2151C>T (p.Tyr717=)
c.2385C>T (p.Tyr795=)
c.2121C>T (p.Tyr707=)
c.2439C>T (p.Tyr813=)
c.2415C>T (p.Tyr805=)
c.2469C>T (p.Tyr823=)
c.1173C>T (p.Tyr391=)
c.2175C>T (p.Tyr725=)
c.1149C>T (p.Tyr383=)
 gnomAD v4 COSMIC COSMIC
9g.110800788T>ACA374479645MUSKc.2410T>A (p.Tyr804Asn)
c.2152T>A (p.Tyr718Asn)
c.2386T>A (p.Tyr796Asn)
c.2122T>A (p.Tyr708Asn)
c.2440T>A (p.Tyr814Asn)
c.2416T>A (p.Tyr806Asn)
c.2470T>A (p.Tyr824Asn)
c.1174T>A (p.Tyr392Asn)
c.2176T>A (p.Tyr726Asn)
c.1150T>A (p.Tyr384Asn)
9g.110800788T>CCA374479647MUSKc.2410T>C (p.Tyr804His)
c.2152T>C (p.Tyr718His)
c.2386T>C (p.Tyr796His)
c.2122T>C (p.Tyr708His)
c.2440T>C (p.Tyr814His)
c.2416T>C (p.Tyr806His)
c.2470T>C (p.Tyr824His)
c.1174T>C (p.Tyr392His)
c.2176T>C (p.Tyr726His)
c.1150T>C (p.Tyr384His)
9g.110800788T>GCA374479648MUSKc.2410T>G (p.Tyr804Asp)
c.2152T>G (p.Tyr718Asp)
c.2386T>G (p.Tyr796Asp)
c.2122T>G (p.Tyr708Asp)
c.2440T>G (p.Tyr814Asp)
c.2416T>G (p.Tyr806Asp)
c.2470T>G (p.Tyr824Asp)
c.1174T>G (p.Tyr392Asp)
c.2176T>G (p.Tyr726Asp)
c.1150T>G (p.Tyr384Asp)
9g.110800789A=CA1872205759MUSKc.2411A= (p.Tyr804=)
c.2153A= (p.Tyr718=)
c.2387A= (p.Tyr796=)
c.2123A= (p.Tyr708=)
c.2441A= (p.Tyr814=)
c.2417A= (p.Tyr806=)
c.2471A= (p.Tyr824=)
c.1175A= (p.Tyr392=)
c.2177A= (p.Tyr726=)
c.1151A= (p.Tyr384=)
9g.110800789A>CCA374479653MUSKc.2411A>C (p.Tyr804Ser)
c.2153A>C (p.Tyr718Ser)
c.2387A>C (p.Tyr796Ser)
c.2123A>C (p.Tyr708Ser)
c.2441A>C (p.Tyr814Ser)
c.2417A>C (p.Tyr806Ser)
c.2471A>C (p.Tyr824Ser)
c.1175A>C (p.Tyr392Ser)
c.2177A>C (p.Tyr726Ser)
c.1151A>C (p.Tyr384Ser)
9g.110800789A>GCA5184623MUSKc.2411A>G (p.Tyr804Cys)
c.2153A>G (p.Tyr718Cys)
c.2387A>G (p.Tyr796Cys)
c.2123A>G (p.Tyr708Cys)
c.2441A>G (p.Tyr814Cys)
c.2417A>G (p.Tyr806Cys)
c.2471A>G (p.Tyr824Cys)
c.1175A>G (p.Tyr392Cys)
c.2177A>G (p.Tyr726Cys)
c.1151A>G (p.Tyr384Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800789A>TCA374479650MUSKc.2411A>T (p.Tyr804Phe)
c.2153A>T (p.Tyr718Phe)
c.2387A>T (p.Tyr796Phe)
c.2123A>T (p.Tyr708Phe)
c.2441A>T (p.Tyr814Phe)
c.2417A>T (p.Tyr806Phe)
c.2471A>T (p.Tyr824Phe)
c.1175A>T (p.Tyr392Phe)
c.2177A>T (p.Tyr726Phe)
c.1151A>T (p.Tyr384Phe)
9g.110800790T>ACA374479654MUSKc.2412T>A (p.Tyr804Ter)
c.2154T>A (p.Tyr718Ter)
c.2388T>A (p.Tyr796Ter)
c.2124T>A (p.Tyr708Ter)
c.2442T>A (p.Tyr814Ter)
c.2418T>A (p.Tyr806Ter)
c.2472T>A (p.Tyr824Ter)
c.1176T>A (p.Tyr392Ter)
c.2178T>A (p.Tyr726Ter)
c.1152T>A (p.Tyr384Ter)
9g.110800790T>CCA466901552MUSKc.2412T>C (p.Tyr804=)
c.2154T>C (p.Tyr718=)
c.2388T>C (p.Tyr796=)
c.2124T>C (p.Tyr708=)
c.2442T>C (p.Tyr814=)
c.2418T>C (p.Tyr806=)
c.2472T>C (p.Tyr824=)
c.1176T>C (p.Tyr392=)
c.2178T>C (p.Tyr726=)
c.1152T>C (p.Tyr384=)
9g.110800790T>GCA374479656MUSKc.2412T>G (p.Tyr804Ter)
c.2154T>G (p.Tyr718Ter)
c.2388T>G (p.Tyr796Ter)
c.2124T>G (p.Tyr708Ter)
c.2442T>G (p.Tyr814Ter)
c.2418T>G (p.Tyr806Ter)
c.2472T>G (p.Tyr824Ter)
c.1176T>G (p.Tyr392Ter)
c.2178T>G (p.Tyr726Ter)
c.1152T>G (p.Tyr384Ter)
9g.110800791G>ACA374479658MUSKc.2413G>A (p.Gly805Arg)
c.2155G>A (p.Gly719Arg)
c.2389G>A (p.Gly797Arg)
c.2125G>A (p.Gly709Arg)
c.2443G>A (p.Gly815Arg)
c.2419G>A (p.Gly807Arg)
c.2473G>A (p.Gly825Arg)
c.1177G>A (p.Gly393Arg)
c.2179G>A (p.Gly727Arg)
c.1153G>A (p.Gly385Arg)
9g.110800791G>CCA374479660MUSKc.2413G>C (p.Gly805Arg)
c.2155G>C (p.Gly719Arg)
c.2389G>C (p.Gly797Arg)
c.2125G>C (p.Gly709Arg)
c.2443G>C (p.Gly815Arg)
c.2419G>C (p.Gly807Arg)
c.2473G>C (p.Gly825Arg)
c.1177G>C (p.Gly393Arg)
c.2179G>C (p.Gly727Arg)
c.1153G>C (p.Gly385Arg)
9g.110800791G>TCA374479661MUSKc.2413G>T (p.Gly805Trp)
c.2155G>T (p.Gly719Trp)
c.2389G>T (p.Gly797Trp)
c.2125G>T (p.Gly709Trp)
c.2443G>T (p.Gly815Trp)
c.2419G>T (p.Gly807Trp)
c.2473G>T (p.Gly825Trp)
c.1177G>T (p.Gly393Trp)
c.2179G>T (p.Gly727Trp)
c.1153G>T (p.Gly385Trp)
9g.110800792G>ACA374479667MUSKc.2414G>A (p.Gly805Glu)
c.2156G>A (p.Gly719Glu)
c.2390G>A (p.Gly797Glu)
c.2126G>A (p.Gly709Glu)
c.2444G>A (p.Gly815Glu)
c.2420G>A (p.Gly807Glu)
c.2474G>A (p.Gly825Glu)
c.1178G>A (p.Gly393Glu)
c.2180G>A (p.Gly727Glu)
c.1154G>A (p.Gly385Glu)
9g.110800792G>CCA374479665MUSKc.2414G>C (p.Gly805Ala)
c.2156G>C (p.Gly719Ala)
c.2390G>C (p.Gly797Ala)
c.2126G>C (p.Gly709Ala)
c.2444G>C (p.Gly815Ala)
c.2420G>C (p.Gly807Ala)
c.2474G>C (p.Gly825Ala)
c.1178G>C (p.Gly393Ala)
c.2180G>C (p.Gly727Ala)
c.1154G>C (p.Gly385Ala)
9g.110800792G>TCA374479663MUSKc.2414G>T (p.Gly805Val)
c.2156G>T (p.Gly719Val)
c.2390G>T (p.Gly797Val)
c.2126G>T (p.Gly709Val)
c.2444G>T (p.Gly815Val)
c.2420G>T (p.Gly807Val)
c.2474G>T (p.Gly825Val)
c.1178G>T (p.Gly393Val)
c.2180G>T (p.Gly727Val)
c.1154G>T (p.Gly385Val)
9g.110800793G>ACA466901557MUSKc.2415G>A (p.Gly805=)
c.2157G>A (p.Gly719=)
c.2391G>A (p.Gly797=)
c.2127G>A (p.Gly709=)
c.2445G>A (p.Gly815=)
c.2421G>A (p.Gly807=)
c.2475G>A (p.Gly825=)
c.1179G>A (p.Gly393=)
c.2181G>A (p.Gly727=)
c.1155G>A (p.Gly385=)
 dbSNP gnomAD v4
9g.110800793G>CCA466901560MUSKc.2415G>C (p.Gly805=)
c.2157G>C (p.Gly719=)
c.2391G>C (p.Gly797=)
c.2127G>C (p.Gly709=)
c.2445G>C (p.Gly815=)
c.2421G>C (p.Gly807=)
c.2475G>C (p.Gly825=)
c.1179G>C (p.Gly393=)
c.2181G>C (p.Gly727=)
c.1155G>C (p.Gly385=)
9g.110800793G=CA1872205760MUSKc.2415G= (p.Gly805=)
c.2157G= (p.Gly719=)
c.2391G= (p.Gly797=)
c.2127G= (p.Gly709=)
c.2445G= (p.Gly815=)
c.2421G= (p.Gly807=)
c.2475G= (p.Gly825=)
c.1179G= (p.Gly393=)
c.2181G= (p.Gly727=)
c.1155G= (p.Gly385=)
9g.110800793G>TCA466901562MUSKc.2415G>T (p.Gly805=)
c.2157G>T (p.Gly719=)
c.2391G>T (p.Gly797=)
c.2127G>T (p.Gly709=)
c.2445G>T (p.Gly815=)
c.2421G>T (p.Gly807=)
c.2475G>T (p.Gly825=)
c.1179G>T (p.Gly393=)
c.2181G>T (p.Gly727=)
c.1155G>T (p.Gly385=)
9g.110800794A>CCA374479668MUSKc.2416A>C (p.Met806Leu)
c.2158A>C (p.Met720Leu)
c.2392A>C (p.Met798Leu)
c.2128A>C (p.Met710Leu)
c.2446A>C (p.Met816Leu)
c.2422A>C (p.Met808Leu)
c.2476A>C (p.Met826Leu)
c.1180A>C (p.Met394Leu)
c.2182A>C (p.Met728Leu)
c.1156A>C (p.Met386Leu)
9g.110800794A>GCA374479670MUSKc.2416A>G (p.Met806Val)
c.2158A>G (p.Met720Val)
c.2392A>G (p.Met798Val)
c.2128A>G (p.Met710Val)
c.2446A>G (p.Met816Val)
c.2422A>G (p.Met808Val)
c.2476A>G (p.Met826Val)
c.1180A>G (p.Met394Val)
c.2182A>G (p.Met728Val)
c.1156A>G (p.Met386Val)
9g.110800794A>TCA374479672MUSKc.2416A>T (p.Met806Leu)
c.2158A>T (p.Met720Leu)
c.2392A>T (p.Met798Leu)
c.2128A>T (p.Met710Leu)
c.2446A>T (p.Met816Leu)
c.2422A>T (p.Met808Leu)
c.2476A>T (p.Met826Leu)
c.1180A>T (p.Met394Leu)
c.2182A>T (p.Met728Leu)
c.1156A>T (p.Met386Leu)
9g.110800795T>ACA374479673MUSKc.2417T>A (p.Met806Lys)
c.2159T>A (p.Met720Lys)
c.2393T>A (p.Met798Lys)
c.2129T>A (p.Met710Lys)
c.2447T>A (p.Met816Lys)
c.2423T>A (p.Met808Lys)
c.2477T>A (p.Met826Lys)
c.1181T>A (p.Met394Lys)
c.2183T>A (p.Met728Lys)
c.1157T>A (p.Met386Lys)
9g.110800795T>CCA374479674MUSKc.2417T>C (p.Met806Thr)
c.2159T>C (p.Met720Thr)
c.2393T>C (p.Met798Thr)
c.2129T>C (p.Met710Thr)
c.2447T>C (p.Met816Thr)
c.2423T>C (p.Met808Thr)
c.2477T>C (p.Met826Thr)
c.1181T>C (p.Met394Thr)
c.2183T>C (p.Met728Thr)
c.1157T>C (p.Met386Thr)
 gnomAD v4
9g.110800795T>GCA374479675MUSKc.2417T>G (p.Met806Arg)
c.2159T>G (p.Met720Arg)
c.2393T>G (p.Met798Arg)
c.2129T>G (p.Met710Arg)
c.2447T>G (p.Met816Arg)
c.2423T>G (p.Met808Arg)
c.2477T>G (p.Met826Arg)
c.1181T>G (p.Met394Arg)
c.2183T>G (p.Met728Arg)
c.1157T>G (p.Met386Arg)
9g.110800796G>ACA374479678MUSKc.2418G>A (p.Met806Ile)
c.2160G>A (p.Met720Ile)
c.2394G>A (p.Met798Ile)
c.2130G>A (p.Met710Ile)
c.2448G>A (p.Met816Ile)
c.2424G>A (p.Met808Ile)
c.2478G>A (p.Met826Ile)
c.1182G>A (p.Met394Ile)
c.2184G>A (p.Met728Ile)
c.1158G>A (p.Met386Ile)
9g.110800796G>CCA374479681MUSKc.2418G>C (p.Met806Ile)
c.2160G>C (p.Met720Ile)
c.2394G>C (p.Met798Ile)
c.2130G>C (p.Met710Ile)
c.2448G>C (p.Met816Ile)
c.2424G>C (p.Met808Ile)
c.2478G>C (p.Met826Ile)
c.1182G>C (p.Met394Ile)
c.2184G>C (p.Met728Ile)
c.1158G>C (p.Met386Ile)
9g.110800796G>TCA374479680MUSKc.2418G>T (p.Met806Ile)
c.2160G>T (p.Met720Ile)
c.2394G>T (p.Met798Ile)
c.2130G>T (p.Met710Ile)
c.2448G>T (p.Met816Ile)
c.2424G>T (p.Met808Ile)
c.2478G>T (p.Met826Ile)
c.1182G>T (p.Met394Ile)
c.2184G>T (p.Met728Ile)
c.1158G>T (p.Met386Ile)
9g.110800797G>ACA374479683MUSKc.2419G>A (p.Ala807Thr)
c.2161G>A (p.Ala721Thr)
c.2395G>A (p.Ala799Thr)
c.2131G>A (p.Ala711Thr)
c.2449G>A (p.Ala817Thr)
c.2425G>A (p.Ala809Thr)
c.2479G>A (p.Ala827Thr)
c.1183G>A (p.Ala395Thr)
c.2185G>A (p.Ala729Thr)
c.1159G>A (p.Ala387Thr)
 dbSNP gnomAD v3 gnomAD v4
9g.110800797G>CCA374479685MUSKc.2419G>C (p.Ala807Pro)
c.2161G>C (p.Ala721Pro)
c.2395G>C (p.Ala799Pro)
c.2131G>C (p.Ala711Pro)
c.2449G>C (p.Ala817Pro)
c.2425G>C (p.Ala809Pro)
c.2479G>C (p.Ala827Pro)
c.1183G>C (p.Ala395Pro)
c.2185G>C (p.Ala729Pro)
c.1159G>C (p.Ala387Pro)
9g.110800797G=CA1872205761MUSKc.2419G= (p.Ala807=)
c.2161G= (p.Ala721=)
c.2395G= (p.Ala799=)
c.2131G= (p.Ala711=)
c.2449G= (p.Ala817=)
c.2425G= (p.Ala809=)
c.2479G= (p.Ala827=)
c.1183G= (p.Ala395=)
c.2185G= (p.Ala729=)
c.1159G= (p.Ala387=)
9g.110800797G>TCA374479687MUSKc.2419G>T (p.Ala807Ser)
c.2161G>T (p.Ala721Ser)
c.2395G>T (p.Ala799Ser)
c.2131G>T (p.Ala711Ser)
c.2449G>T (p.Ala817Ser)
c.2425G>T (p.Ala809Ser)
c.2479G>T (p.Ala827Ser)
c.1183G>T (p.Ala395Ser)
c.2185G>T (p.Ala729Ser)
c.1159G>T (p.Ala387Ser)
 gnomAD v4
9g.110800798C>ACA374479688MUSKc.2420C>A (p.Ala807Asp)
c.2162C>A (p.Ala721Asp)
c.2396C>A (p.Ala799Asp)
c.2132C>A (p.Ala711Asp)
c.2450C>A (p.Ala817Asp)
c.2426C>A (p.Ala809Asp)
c.2480C>A (p.Ala827Asp)
c.1184C>A (p.Ala395Asp)
c.2186C>A (p.Ala729Asp)
c.1160C>A (p.Ala387Asp)
9g.110800798C=CA1872205762MUSKc.2420C= (p.Ala807=)
c.2162C= (p.Ala721=)
c.2396C= (p.Ala799=)
c.2132C= (p.Ala711=)
c.2450C= (p.Ala817=)
c.2426C= (p.Ala809=)
c.2480C= (p.Ala827=)
c.1184C= (p.Ala395=)
c.2186C= (p.Ala729=)
c.1160C= (p.Ala387=)
9g.110800798C>GCA374479689MUSKc.2420C>G (p.Ala807Gly)
c.2162C>G (p.Ala721Gly)
c.2396C>G (p.Ala799Gly)
c.2132C>G (p.Ala711Gly)
c.2450C>G (p.Ala817Gly)
c.2426C>G (p.Ala809Gly)
c.2480C>G (p.Ala827Gly)
c.1184C>G (p.Ala395Gly)
c.2186C>G (p.Ala729Gly)
c.1160C>G (p.Ala387Gly)
9g.110800798C>TCA374479691MUSKc.2420C>T (p.Ala807Val)
c.2162C>T (p.Ala721Val)
c.2396C>T (p.Ala799Val)
c.2132C>T (p.Ala711Val)
c.2450C>T (p.Ala817Val)
c.2426C>T (p.Ala809Val)
c.2480C>T (p.Ala827Val)
c.1184C>T (p.Ala395Val)
c.2186C>T (p.Ala729Val)
c.1160C>T (p.Ala387Val)
 dbSNP gnomAD v3 gnomAD v4
9g.110800799C>ACA466901586MUSKc.2421C>A (p.Ala807=)
c.2163C>A (p.Ala721=)
c.2397C>A (p.Ala799=)
c.2133C>A (p.Ala711=)
c.2451C>A (p.Ala817=)
c.2427C>A (p.Ala809=)
c.2481C>A (p.Ala827=)
c.1185C>A (p.Ala395=)
c.2187C>A (p.Ala729=)
c.1161C>A (p.Ala387=)
9g.110800799C>GCA466901588MUSKc.2421C>G (p.Ala807=)
c.2163C>G (p.Ala721=)
c.2397C>G (p.Ala799=)
c.2133C>G (p.Ala711=)
c.2451C>G (p.Ala817=)
c.2427C>G (p.Ala809=)
c.2481C>G (p.Ala827=)
c.1185C>G (p.Ala395=)
c.2187C>G (p.Ala729=)
c.1161C>G (p.Ala387=)
9g.110800799C>TCA466901591MUSKc.2421C>T (p.Ala807=)
c.2163C>T (p.Ala721=)
c.2397C>T (p.Ala799=)
c.2133C>T (p.Ala711=)
c.2451C>T (p.Ala817=)
c.2427C>T (p.Ala809=)
c.2481C>T (p.Ala827=)
c.1185C>T (p.Ala395=)
c.2187C>T (p.Ala729=)
c.1161C>T (p.Ala387=)
9g.110800800C>ACA374479693MUSKc.2422C>A (p.His808Asn)
c.2164C>A (p.His722Asn)
c.2398C>A (p.His800Asn)
c.2134C>A (p.His712Asn)
c.2452C>A (p.His818Asn)
c.2428C>A (p.His810Asn)
c.2482C>A (p.His828Asn)
c.1186C>A (p.His396Asn)
c.2188C>A (p.His730Asn)
c.1162C>A (p.His388Asn)
9g.110800800C>GCA374479694MUSKc.2422C>G (p.His808Asp)
c.2164C>G (p.His722Asp)
c.2398C>G (p.His800Asp)
c.2134C>G (p.His712Asp)
c.2452C>G (p.His818Asp)
c.2428C>G (p.His810Asp)
c.2482C>G (p.His828Asp)
c.1186C>G (p.His396Asp)
c.2188C>G (p.His730Asp)
c.1162C>G (p.His388Asp)
9g.110800800C>TCA374479696MUSKc.2422C>T (p.His808Tyr)
c.2164C>T (p.His722Tyr)
c.2398C>T (p.His800Tyr)
c.2134C>T (p.His712Tyr)
c.2452C>T (p.His818Tyr)
c.2428C>T (p.His810Tyr)
c.2482C>T (p.His828Tyr)
c.1186C>T (p.His396Tyr)
c.2188C>T (p.His730Tyr)
c.1162C>T (p.His388Tyr)
9g.110800801A=CA1872205763MUSKc.2423A= (p.His808=)
c.2165A= (p.His722=)
c.2399A= (p.His800=)
c.2135A= (p.His712=)
c.2453A= (p.His818=)
c.2429A= (p.His810=)
c.2483A= (p.His828=)
c.1187A= (p.His396=)
c.2189A= (p.His730=)
c.1163A= (p.His388=)
9g.110800801A>CCA374479698MUSKc.2423A>C (p.His808Pro)
c.2165A>C (p.His722Pro)
c.2399A>C (p.His800Pro)
c.2135A>C (p.His712Pro)
c.2453A>C (p.His818Pro)
c.2429A>C (p.His810Pro)
c.2483A>C (p.His828Pro)
c.1187A>C (p.His396Pro)
c.2189A>C (p.His730Pro)
c.1163A>C (p.His388Pro)
 dbSNP
9g.110800801A>GCA374479699MUSKc.2423A>G (p.His808Arg)
c.2165A>G (p.His722Arg)
c.2399A>G (p.His800Arg)
c.2135A>G (p.His712Arg)
c.2453A>G (p.His818Arg)
c.2429A>G (p.His810Arg)
c.2483A>G (p.His828Arg)
c.1187A>G (p.His396Arg)
c.2189A>G (p.His730Arg)
c.1163A>G (p.His388Arg)
 ClinVar dbSNP
9g.110800801A>TCA374479700MUSKc.2423A>T (p.His808Leu)
c.2165A>T (p.His722Leu)
c.2399A>T (p.His800Leu)
c.2135A>T (p.His712Leu)
c.2453A>T (p.His818Leu)
c.2429A>T (p.His810Leu)
c.2483A>T (p.His828Leu)
c.1187A>T (p.His396Leu)
c.2189A>T (p.His730Leu)
c.1163A>T (p.His388Leu)
9g.110800802T>ACA374479702MUSKc.2424T>A (p.His808Gln)
c.2166T>A (p.His722Gln)
c.2400T>A (p.His800Gln)
c.2136T>A (p.His712Gln)
c.2454T>A (p.His818Gln)
c.2430T>A (p.His810Gln)
c.2484T>A (p.His828Gln)
c.1188T>A (p.His396Gln)
c.2190T>A (p.His730Gln)
c.1164T>A (p.His388Gln)
9g.110800802T>CCA466901598MUSKc.2424T>C (p.His808=)
c.2166T>C (p.His722=)
c.2400T>C (p.His800=)
c.2136T>C (p.His712=)
c.2454T>C (p.His818=)
c.2430T>C (p.His810=)
c.2484T>C (p.His828=)
c.1188T>C (p.His396=)
c.2190T>C (p.His730=)
c.1164T>C (p.His388=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.110800802T>GCA374479704MUSKc.2424T>G (p.His808Gln)
c.2166T>G (p.His722Gln)
c.2400T>G (p.His800Gln)
c.2136T>G (p.His712Gln)
c.2454T>G (p.His818Gln)
c.2430T>G (p.His810Gln)
c.2484T>G (p.His828Gln)
c.1188T>G (p.His396Gln)
c.2190T>G (p.His730Gln)
c.1164T>G (p.His388Gln)
9g.110800802T=CA1872205764MUSKc.2424T= (p.His808=)
c.2166T= (p.His722=)
c.2400T= (p.His800=)
c.2136T= (p.His712=)
c.2454T= (p.His818=)
c.2430T= (p.His810=)
c.2484T= (p.His828=)
c.1188T= (p.His396=)
c.2190T= (p.His730=)
c.1164T= (p.His388=)
9g.110800803G>ACA374479706MUSKc.2425G>A (p.Glu809Lys)
c.2167G>A (p.Glu723Lys)
c.2401G>A (p.Glu801Lys)
c.2137G>A (p.Glu713Lys)
c.2455G>A (p.Glu819Lys)
c.2431G>A (p.Glu811Lys)
c.2485G>A (p.Glu829Lys)
c.1189G>A (p.Glu397Lys)
c.2191G>A (p.Glu731Lys)
c.1165G>A (p.Glu389Lys)
9g.110800803G>CCA374479708MUSKc.2425G>C (p.Glu809Gln)
c.2167G>C (p.Glu723Gln)
c.2401G>C (p.Glu801Gln)
c.2137G>C (p.Glu713Gln)
c.2455G>C (p.Glu819Gln)
c.2431G>C (p.Glu811Gln)
c.2485G>C (p.Glu829Gln)
c.1189G>C (p.Glu397Gln)
c.2191G>C (p.Glu731Gln)
c.1165G>C (p.Glu389Gln)
9g.110800803G>TCA374479707MUSKc.2425G>T (p.Glu809Ter)
c.2167G>T (p.Glu723Ter)
c.2401G>T (p.Glu801Ter)
c.2137G>T (p.Glu713Ter)
c.2455G>T (p.Glu819Ter)
c.2431G>T (p.Glu811Ter)
c.2485G>T (p.Glu829Ter)
c.1189G>T (p.Glu397Ter)
c.2191G>T (p.Glu731Ter)
c.1165G>T (p.Glu389Ter)
9g.110800804A>CCA374479710MUSKc.2426A>C (p.Glu809Ala)
c.2168A>C (p.Glu723Ala)
c.2402A>C (p.Glu801Ala)
c.2138A>C (p.Glu713Ala)
c.2456A>C (p.Glu819Ala)
c.2432A>C (p.Glu811Ala)
c.2486A>C (p.Glu829Ala)
c.1190A>C (p.Glu397Ala)
c.2192A>C (p.Glu731Ala)
c.1166A>C (p.Glu389Ala)
9g.110800804A>GCA374479714MUSKc.2426A>G (p.Glu809Gly)
c.2168A>G (p.Glu723Gly)
c.2402A>G (p.Glu801Gly)
c.2138A>G (p.Glu713Gly)
c.2456A>G (p.Glu819Gly)
c.2432A>G (p.Glu811Gly)
c.2486A>G (p.Glu829Gly)
c.1190A>G (p.Glu397Gly)
c.2192A>G (p.Glu731Gly)
c.1166A>G (p.Glu389Gly)
9g.110800804A>TCA374479712MUSKc.2426A>T (p.Glu809Val)
c.2168A>T (p.Glu723Val)
c.2402A>T (p.Glu801Val)
c.2138A>T (p.Glu713Val)
c.2456A>T (p.Glu819Val)
c.2432A>T (p.Glu811Val)
c.2486A>T (p.Glu829Val)
c.1190A>T (p.Glu397Val)
c.2192A>T (p.Glu731Val)
c.1166A>T (p.Glu389Val)
9g.110800805G>ACA466901608MUSKc.2427G>A (p.Glu809=)
c.2169G>A (p.Glu723=)
c.2403G>A (p.Glu801=)
c.2139G>A (p.Glu713=)
c.2457G>A (p.Glu819=)
c.2433G>A (p.Glu811=)
c.2487G>A (p.Glu829=)
c.1191G>A (p.Glu397=)
c.2193G>A (p.Glu731=)
c.1167G>A (p.Glu389=)
 COSMIC COSMIC
9g.110800805G>CCA374479715MUSKc.2427G>C (p.Glu809Asp)
c.2169G>C (p.Glu723Asp)
c.2403G>C (p.Glu801Asp)
c.2139G>C (p.Glu713Asp)
c.2457G>C (p.Glu819Asp)
c.2433G>C (p.Glu811Asp)
c.2487G>C (p.Glu829Asp)
c.1191G>C (p.Glu397Asp)
c.2193G>C (p.Glu731Asp)
c.1167G>C (p.Glu389Asp)
9g.110800805G>TCA374479717MUSKc.2427G>T (p.Glu809Asp)
c.2169G>T (p.Glu723Asp)
c.2403G>T (p.Glu801Asp)
c.2139G>T (p.Glu713Asp)
c.2457G>T (p.Glu819Asp)
c.2433G>T (p.Glu811Asp)
c.2487G>T (p.Glu829Asp)
c.1191G>T (p.Glu397Asp)
c.2193G>T (p.Glu731Asp)
c.1167G>T (p.Glu389Asp)
9g.110800806G>ACA374479719MUSKc.2428G>A (p.Glu810Lys)
c.2170G>A (p.Glu724Lys)
c.2404G>A (p.Glu802Lys)
c.2140G>A (p.Glu714Lys)
c.2458G>A (p.Glu820Lys)
c.2434G>A (p.Glu812Lys)
c.2488G>A (p.Glu830Lys)
c.1192G>A (p.Glu398Lys)
c.2194G>A (p.Glu732Lys)
c.1168G>A (p.Glu390Lys)
9g.110800806G>CCA374479721MUSKc.2428G>C (p.Glu810Gln)
c.2170G>C (p.Glu724Gln)
c.2404G>C (p.Glu802Gln)
c.2140G>C (p.Glu714Gln)
c.2458G>C (p.Glu820Gln)
c.2434G>C (p.Glu812Gln)
c.2488G>C (p.Glu830Gln)
c.1192G>C (p.Glu398Gln)
c.2194G>C (p.Glu732Gln)
c.1168G>C (p.Glu390Gln)
9g.110800806G>TCA374479722MUSKc.2428G>T (p.Glu810Ter)
c.2170G>T (p.Glu724Ter)
c.2404G>T (p.Glu802Ter)
c.2140G>T (p.Glu714Ter)
c.2458G>T (p.Glu820Ter)
c.2434G>T (p.Glu812Ter)
c.2488G>T (p.Glu830Ter)
c.1192G>T (p.Glu398Ter)
c.2194G>T (p.Glu732Ter)
c.1168G>T (p.Glu390Ter)
9g.110800807A>CCA374479724MUSKc.2429A>C (p.Glu810Ala)
c.2171A>C (p.Glu724Ala)
c.2405A>C (p.Glu802Ala)
c.2141A>C (p.Glu714Ala)
c.2459A>C (p.Glu820Ala)
c.2435A>C (p.Glu812Ala)
c.2489A>C (p.Glu830Ala)
c.1193A>C (p.Glu398Ala)
c.2195A>C (p.Glu732Ala)
c.1169A>C (p.Glu390Ala)
9g.110800807A>GCA374479726MUSKc.2429A>G (p.Glu810Gly)
c.2171A>G (p.Glu724Gly)
c.2405A>G (p.Glu802Gly)
c.2141A>G (p.Glu714Gly)
c.2459A>G (p.Glu820Gly)
c.2435A>G (p.Glu812Gly)
c.2489A>G (p.Glu830Gly)
c.1193A>G (p.Glu398Gly)
c.2195A>G (p.Glu732Gly)
c.1169A>G (p.Glu390Gly)
9g.110800807A>TCA374479727MUSKc.2429A>T (p.Glu810Val)
c.2171A>T (p.Glu724Val)
c.2405A>T (p.Glu802Val)
c.2141A>T (p.Glu714Val)
c.2459A>T (p.Glu820Val)
c.2435A>T (p.Glu812Val)
c.2489A>T (p.Glu830Val)
c.1193A>T (p.Glu398Val)
c.2195A>T (p.Glu732Val)
c.1169A>T (p.Glu390Val)
9g.110800808G>ACA466901613MUSKc.2430G>A (p.Glu810=)
c.2172G>A (p.Glu724=)
c.2406G>A (p.Glu802=)
c.2142G>A (p.Glu714=)
c.2460G>A (p.Glu820=)
c.2436G>A (p.Glu812=)
c.2490G>A (p.Glu830=)
c.1194G>A (p.Glu398=)
c.2196G>A (p.Glu732=)
c.1170G>A (p.Glu390=)
 gnomAD v4
9g.110800808G>CCA374479729MUSKc.2430G>C (p.Glu810Asp)
c.2172G>C (p.Glu724Asp)
c.2406G>C (p.Glu802Asp)
c.2142G>C (p.Glu714Asp)
c.2460G>C (p.Glu820Asp)
c.2436G>C (p.Glu812Asp)
c.2490G>C (p.Glu830Asp)
c.1194G>C (p.Glu398Asp)
c.2196G>C (p.Glu732Asp)
c.1170G>C (p.Glu390Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.110800808G=CA1872205765MUSKc.2430G= (p.Glu810=)
c.2172G= (p.Glu724=)
c.2406G= (p.Glu802=)
c.2142G= (p.Glu714=)
c.2460G= (p.Glu820=)
c.2436G= (p.Glu812=)
c.2490G= (p.Glu830=)
c.1194G= (p.Glu398=)
c.2196G= (p.Glu732=)
c.1170G= (p.Glu390=)
9g.110800808G>TCA374479730MUSKc.2430G>T (p.Glu810Asp)
c.2172G>T (p.Glu724Asp)
c.2406G>T (p.Glu802Asp)
c.2142G>T (p.Glu714Asp)
c.2460G>T (p.Glu820Asp)
c.2436G>T (p.Glu812Asp)
c.2490G>T (p.Glu830Asp)
c.1194G>T (p.Glu398Asp)
c.2196G>T (p.Glu732Asp)
c.1170G>T (p.Glu390Asp)
9g.110800809G>ACA5184624MUSKc.2431G>A (p.Val811Ile)
c.2173G>A (p.Val725Ile)
c.2407G>A (p.Val803Ile)
c.2143G>A (p.Val715Ile)
c.2461G>A (p.Val821Ile)
c.2437G>A (p.Val813Ile)
c.2491G>A (p.Val831Ile)
c.1195G>A (p.Val399Ile)
c.2197G>A (p.Val733Ile)
c.1171G>A (p.Val391Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800809G>CCA374479732MUSKc.2431G>C (p.Val811Leu)
c.2173G>C (p.Val725Leu)
c.2407G>C (p.Val803Leu)
c.2143G>C (p.Val715Leu)
c.2461G>C (p.Val821Leu)
c.2437G>C (p.Val813Leu)
c.2491G>C (p.Val831Leu)
c.1195G>C (p.Val399Leu)
c.2197G>C (p.Val733Leu)
c.1171G>C (p.Val391Leu)
9g.110800809G=CA1872205766MUSKc.2431G= (p.Val811=)
c.2173G= (p.Val725=)
c.2407G= (p.Val803=)
c.2143G= (p.Val715=)
c.2461G= (p.Val821=)
c.2437G= (p.Val813=)
c.2491G= (p.Val831=)
c.1195G= (p.Val399=)
c.2197G= (p.Val733=)
c.1171G= (p.Val391=)
9g.110800809G>TCA374479733MUSKc.2431G>T (p.Val811Phe)
c.2173G>T (p.Val725Phe)
c.2407G>T (p.Val803Phe)
c.2143G>T (p.Val715Phe)
c.2461G>T (p.Val821Phe)
c.2437G>T (p.Val813Phe)
c.2491G>T (p.Val831Phe)
c.1195G>T (p.Val399Phe)
c.2197G>T (p.Val733Phe)
c.1171G>T (p.Val391Phe)
9g.110800810T>ACA374479738MUSKc.2432T>A (p.Val811Asp)
c.2174T>A (p.Val725Asp)
c.2408T>A (p.Val803Asp)
c.2144T>A (p.Val715Asp)
c.2462T>A (p.Val821Asp)
c.2438T>A (p.Val813Asp)
c.2492T>A (p.Val831Asp)
c.1196T>A (p.Val399Asp)
c.2198T>A (p.Val733Asp)
c.1172T>A (p.Val391Asp)
9g.110800810T>CCA374479735MUSKc.2432T>C (p.Val811Ala)
c.2174T>C (p.Val725Ala)
c.2408T>C (p.Val803Ala)
c.2144T>C (p.Val715Ala)
c.2462T>C (p.Val821Ala)
c.2438T>C (p.Val813Ala)
c.2492T>C (p.Val831Ala)
c.1196T>C (p.Val399Ala)
c.2198T>C (p.Val733Ala)
c.1172T>C (p.Val391Ala)
9g.110800810T>GCA374479737MUSKc.2432T>G (p.Val811Gly)
c.2174T>G (p.Val725Gly)
c.2408T>G (p.Val803Gly)
c.2144T>G (p.Val715Gly)
c.2462T>G (p.Val821Gly)
c.2438T>G (p.Val813Gly)
c.2492T>G (p.Val831Gly)
c.1196T>G (p.Val399Gly)
c.2198T>G (p.Val733Gly)
c.1172T>G (p.Val391Gly)
9g.110800811C>ACA466901615MUSKc.2433C>A (p.Val811=)
c.2175C>A (p.Val725=)
c.2409C>A (p.Val803=)
c.2145C>A (p.Val715=)
c.2463C>A (p.Val821=)
c.2439C>A (p.Val813=)
c.2493C>A (p.Val831=)
c.1197C>A (p.Val399=)
c.2199C>A (p.Val733=)
c.1173C>A (p.Val391=)
9g.110800811C=CA1872205767MUSKc.2433C= (p.Val811=)
c.2175C= (p.Val725=)
c.2409C= (p.Val803=)
c.2145C= (p.Val715=)
c.2463C= (p.Val821=)
c.2439C= (p.Val813=)
c.2493C= (p.Val831=)
c.1197C= (p.Val399=)
c.2199C= (p.Val733=)
c.1173C= (p.Val391=)
9g.110800811C>GCA466901616MUSKc.2433C>G (p.Val811=)
c.2175C>G (p.Val725=)
c.2409C>G (p.Val803=)
c.2145C>G (p.Val715=)
c.2463C>G (p.Val821=)
c.2439C>G (p.Val813=)
c.2493C>G (p.Val831=)
c.1197C>G (p.Val399=)
c.2199C>G (p.Val733=)
c.1173C>G (p.Val391=)
9g.110800811C>TCA5184625MUSKc.2433C>T (p.Val811=)
c.2175C>T (p.Val725=)
c.2409C>T (p.Val803=)
c.2145C>T (p.Val715=)
c.2463C>T (p.Val821=)
c.2439C>T (p.Val813=)
c.2493C>T (p.Val831=)
c.1197C>T (p.Val399=)
c.2199C>T (p.Val733=)
c.1173C>T (p.Val391=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800812A>CCA374479740MUSKc.2434A>C (p.Ile812Leu)
c.2176A>C (p.Ile726Leu)
c.2410A>C (p.Ile804Leu)
c.2146A>C (p.Ile716Leu)
c.2464A>C (p.Ile822Leu)
c.2440A>C (p.Ile814Leu)
c.2494A>C (p.Ile832Leu)
c.1198A>C (p.Ile400Leu)
c.2200A>C (p.Ile734Leu)
c.1174A>C (p.Ile392Leu)
9g.110800812A>GCA374479742MUSKc.2434A>G (p.Ile812Val)
c.2176A>G (p.Ile726Val)
c.2410A>G (p.Ile804Val)
c.2146A>G (p.Ile716Val)
c.2464A>G (p.Ile822Val)
c.2440A>G (p.Ile814Val)
c.2494A>G (p.Ile832Val)
c.1198A>G (p.Ile400Val)
c.2200A>G (p.Ile734Val)
c.1174A>G (p.Ile392Val)
9g.110800812A>TCA374479744MUSKc.2434A>T (p.Ile812Phe)
c.2176A>T (p.Ile726Phe)
c.2410A>T (p.Ile804Phe)
c.2146A>T (p.Ile716Phe)
c.2464A>T (p.Ile822Phe)
c.2440A>T (p.Ile814Phe)
c.2494A>T (p.Ile832Phe)
c.1198A>T (p.Ile400Phe)
c.2200A>T (p.Ile734Phe)
c.1174A>T (p.Ile392Phe)
9g.110800813T>ACA374479745MUSKc.2435T>A (p.Ile812Asn)
c.2177T>A (p.Ile726Asn)
c.2411T>A (p.Ile804Asn)
c.2147T>A (p.Ile716Asn)
c.2465T>A (p.Ile822Asn)
c.2441T>A (p.Ile814Asn)
c.2495T>A (p.Ile832Asn)
c.1199T>A (p.Ile400Asn)
c.2201T>A (p.Ile734Asn)
c.1175T>A (p.Ile392Asn)
9g.110800813T>CCA374479747MUSKc.2435T>C (p.Ile812Thr)
c.2177T>C (p.Ile726Thr)
c.2411T>C (p.Ile804Thr)
c.2147T>C (p.Ile716Thr)
c.2465T>C (p.Ile822Thr)
c.2441T>C (p.Ile814Thr)
c.2495T>C (p.Ile832Thr)
c.1199T>C (p.Ile400Thr)
c.2201T>C (p.Ile734Thr)
c.1175T>C (p.Ile392Thr)
 dbSNP gnomAD v3 gnomAD v4
9g.110800813T>GCA374479748MUSKc.2435T>G (p.Ile812Ser)
c.2177T>G (p.Ile726Ser)
c.2411T>G (p.Ile804Ser)
c.2147T>G (p.Ile716Ser)
c.2465T>G (p.Ile822Ser)
c.2441T>G (p.Ile814Ser)
c.2495T>G (p.Ile832Ser)
c.1199T>G (p.Ile400Ser)
c.2201T>G (p.Ile734Ser)
c.1175T>G (p.Ile392Ser)
9g.110800813T=CA1872205768MUSKc.2435T= (p.Ile812=)
c.2177T= (p.Ile726=)
c.2411T= (p.Ile804=)
c.2147T= (p.Ile716=)
c.2465T= (p.Ile822=)
c.2441T= (p.Ile814=)
c.2495T= (p.Ile832=)
c.1199T= (p.Ile400=)
c.2201T= (p.Ile734=)
c.1175T= (p.Ile392=)
9g.110800814T>ACA466901624MUSKc.2436T>A (p.Ile812=)
c.2178T>A (p.Ile726=)
c.2412T>A (p.Ile804=)
c.2148T>A (p.Ile716=)
c.2466T>A (p.Ile822=)
c.2442T>A (p.Ile814=)
c.2496T>A (p.Ile832=)
c.1200T>A (p.Ile400=)
c.2202T>A (p.Ile734=)
c.1176T>A (p.Ile392=)
9g.110800814T>CCA466901626MUSKc.2436T>C (p.Ile812=)
c.2178T>C (p.Ile726=)
c.2412T>C (p.Ile804=)
c.2148T>C (p.Ile716=)
c.2466T>C (p.Ile822=)
c.2442T>C (p.Ile814=)
c.2496T>C (p.Ile832=)
c.1200T>C (p.Ile400=)
c.2202T>C (p.Ile734=)
c.1176T>C (p.Ile392=)
9g.110800814T>GCA374479750MUSKc.2436T>G (p.Ile812Met)
c.2178T>G (p.Ile726Met)
c.2412T>G (p.Ile804Met)
c.2148T>G (p.Ile716Met)
c.2466T>G (p.Ile822Met)
c.2442T>G (p.Ile814Met)
c.2496T>G (p.Ile832Met)
c.1200T>G (p.Ile400Met)
c.2202T>G (p.Ile734Met)
c.1176T>G (p.Ile392Met)
9g.110800815T>ACA374479752MUSKc.2437T>A (p.Tyr813Asn)
c.2179T>A (p.Tyr727Asn)
c.2413T>A (p.Tyr805Asn)
c.2149T>A (p.Tyr717Asn)
c.2467T>A (p.Tyr823Asn)
c.2443T>A (p.Tyr815Asn)
c.2497T>A (p.Tyr833Asn)
c.1201T>A (p.Tyr401Asn)
c.2203T>A (p.Tyr735Asn)
c.1177T>A (p.Tyr393Asn)
9g.110800815T>CCA5184626MUSKc.2437T>C (p.Tyr813His)
c.2179T>C (p.Tyr727His)
c.2413T>C (p.Tyr805His)
c.2149T>C (p.Tyr717His)
c.2467T>C (p.Tyr823His)
c.2443T>C (p.Tyr815His)
c.2497T>C (p.Tyr833His)
c.1201T>C (p.Tyr401His)
c.2203T>C (p.Tyr735His)
c.1177T>C (p.Tyr393His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800815T>GCA374479754MUSKc.2437T>G (p.Tyr813Asp)
c.2179T>G (p.Tyr727Asp)
c.2413T>G (p.Tyr805Asp)
c.2149T>G (p.Tyr717Asp)
c.2467T>G (p.Tyr823Asp)
c.2443T>G (p.Tyr815Asp)
c.2497T>G (p.Tyr833Asp)
c.1201T>G (p.Tyr401Asp)
c.2203T>G (p.Tyr735Asp)
c.1177T>G (p.Tyr393Asp)
9g.110800815T=CA1872205769MUSKc.2437T= (p.Tyr813=)
c.2179T= (p.Tyr727=)
c.2413T= (p.Tyr805=)
c.2149T= (p.Tyr717=)
c.2467T= (p.Tyr823=)
c.2443T= (p.Tyr815=)
c.2497T= (p.Tyr833=)
c.1201T= (p.Tyr401=)
c.2203T= (p.Tyr735=)
c.1177T= (p.Tyr393=)
9g.110800816A>CCA374479756MUSKc.2438A>C (p.Tyr813Ser)
c.2180A>C (p.Tyr727Ser)
c.2414A>C (p.Tyr805Ser)
c.2150A>C (p.Tyr717Ser)
c.2468A>C (p.Tyr823Ser)
c.2444A>C (p.Tyr815Ser)
c.2498A>C (p.Tyr833Ser)
c.1202A>C (p.Tyr401Ser)
c.2204A>C (p.Tyr735Ser)
c.1178A>C (p.Tyr393Ser)
9g.110800816A>GCA374479758MUSKc.2438A>G (p.Tyr813Cys)
c.2180A>G (p.Tyr727Cys)
c.2414A>G (p.Tyr805Cys)
c.2150A>G (p.Tyr717Cys)
c.2468A>G (p.Tyr823Cys)
c.2444A>G (p.Tyr815Cys)
c.2498A>G (p.Tyr833Cys)
c.1202A>G (p.Tyr401Cys)
c.2204A>G (p.Tyr735Cys)
c.1178A>G (p.Tyr393Cys)
 gnomAD v4
9g.110800816A>TCA374479757MUSKc.2438A>T (p.Tyr813Phe)
c.2180A>T (p.Tyr727Phe)
c.2414A>T (p.Tyr805Phe)
c.2150A>T (p.Tyr717Phe)
c.2468A>T (p.Tyr823Phe)
c.2444A>T (p.Tyr815Phe)
c.2498A>T (p.Tyr833Phe)
c.1202A>T (p.Tyr401Phe)
c.2204A>T (p.Tyr735Phe)
c.1178A>T (p.Tyr393Phe)
9g.110800817C>ACA374479760MUSKc.2439C>A (p.Tyr813Ter)
c.2181C>A (p.Tyr727Ter)
c.2415C>A (p.Tyr805Ter)
c.2151C>A (p.Tyr717Ter)
c.2469C>A (p.Tyr823Ter)
c.2445C>A (p.Tyr815Ter)
c.2499C>A (p.Tyr833Ter)
c.1203C>A (p.Tyr401Ter)
c.2205C>A (p.Tyr735Ter)
c.1179C>A (p.Tyr393Ter)
9g.110800817C>GCA374479761MUSKc.2439C>G (p.Tyr813Ter)
c.2181C>G (p.Tyr727Ter)
c.2415C>G (p.Tyr805Ter)
c.2151C>G (p.Tyr717Ter)
c.2469C>G (p.Tyr823Ter)
c.2445C>G (p.Tyr815Ter)
c.2499C>G (p.Tyr833Ter)
c.1203C>G (p.Tyr401Ter)
c.2205C>G (p.Tyr735Ter)
c.1179C>G (p.Tyr393Ter)
9g.110800817C>TCA466901635MUSKc.2439C>T (p.Tyr813=)
c.2181C>T (p.Tyr727=)
c.2415C>T (p.Tyr805=)
c.2151C>T (p.Tyr717=)
c.2469C>T (p.Tyr823=)
c.2445C>T (p.Tyr815=)
c.2499C>T (p.Tyr833=)
c.1203C>T (p.Tyr401=)
c.2205C>T (p.Tyr735=)
c.1179C>T (p.Tyr393=)
9g.110800818T>ACA374479762MUSKc.2440T>A (p.Tyr814Asn)
c.2182T>A (p.Tyr728Asn)
c.2416T>A (p.Tyr806Asn)
c.2152T>A (p.Tyr718Asn)
c.2470T>A (p.Tyr824Asn)
c.2446T>A (p.Tyr816Asn)
c.2500T>A (p.Tyr834Asn)
c.1204T>A (p.Tyr402Asn)
c.2206T>A (p.Tyr736Asn)
c.1180T>A (p.Tyr394Asn)
9g.110800818T>CCA374479763MUSKc.2440T>C (p.Tyr814His)
c.2182T>C (p.Tyr728His)
c.2416T>C (p.Tyr806His)
c.2152T>C (p.Tyr718His)
c.2470T>C (p.Tyr824His)
c.2446T>C (p.Tyr816His)
c.2500T>C (p.Tyr834His)
c.1204T>C (p.Tyr402His)
c.2206T>C (p.Tyr736His)
c.1180T>C (p.Tyr394His)
9g.110800818T>GCA374479765MUSKc.2440T>G (p.Tyr814Asp)
c.2182T>G (p.Tyr728Asp)
c.2416T>G (p.Tyr806Asp)
c.2152T>G (p.Tyr718Asp)
c.2470T>G (p.Tyr824Asp)
c.2446T>G (p.Tyr816Asp)
c.2500T>G (p.Tyr834Asp)
c.1204T>G (p.Tyr402Asp)
c.2206T>G (p.Tyr736Asp)
c.1180T>G (p.Tyr394Asp)
 ClinVar dbSNP gnomAD v4
9g.110800818T=CA1872205770MUSKc.2440T= (p.Tyr814=)
c.2182T= (p.Tyr728=)
c.2416T= (p.Tyr806=)
c.2152T= (p.Tyr718=)
c.2470T= (p.Tyr824=)
c.2446T= (p.Tyr816=)
c.2500T= (p.Tyr834=)
c.1204T= (p.Tyr402=)
c.2206T= (p.Tyr736=)
c.1180T= (p.Tyr394=)
9g.110800819A=CA1872205771MUSKc.2441A= (p.Tyr814=)
c.2183A= (p.Tyr728=)
c.2417A= (p.Tyr806=)
c.2153A= (p.Tyr718=)
c.2471A= (p.Tyr824=)
c.2447A= (p.Tyr816=)
c.2501A= (p.Tyr834=)
c.1205A= (p.Tyr402=)
c.2207A= (p.Tyr736=)
c.1181A= (p.Tyr394=)
9g.110800819A>CCA374479766MUSKc.2441A>C (p.Tyr814Ser)
c.2183A>C (p.Tyr728Ser)
c.2417A>C (p.Tyr806Ser)
c.2153A>C (p.Tyr718Ser)
c.2471A>C (p.Tyr824Ser)
c.2447A>C (p.Tyr816Ser)
c.2501A>C (p.Tyr834Ser)
c.1205A>C (p.Tyr402Ser)
c.2207A>C (p.Tyr736Ser)
c.1181A>C (p.Tyr394Ser)
9g.110800819A>GCA5184627MUSKc.2441A>G (p.Tyr814Cys)
c.2183A>G (p.Tyr728Cys)
c.2417A>G (p.Tyr806Cys)
c.2153A>G (p.Tyr718Cys)
c.2471A>G (p.Tyr824Cys)
c.2447A>G (p.Tyr816Cys)
c.2501A>G (p.Tyr834Cys)
c.1205A>G (p.Tyr402Cys)
c.2207A>G (p.Tyr736Cys)
c.1181A>G (p.Tyr394Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800819A>TCA374479767MUSKc.2441A>T (p.Tyr814Phe)
c.2183A>T (p.Tyr728Phe)
c.2417A>T (p.Tyr806Phe)
c.2153A>T (p.Tyr718Phe)
c.2471A>T (p.Tyr824Phe)
c.2447A>T (p.Tyr816Phe)
c.2501A>T (p.Tyr834Phe)
c.1205A>T (p.Tyr402Phe)
c.2207A>T (p.Tyr736Phe)
c.1181A>T (p.Tyr394Phe)
9g.110800820C>ACA374479768MUSKc.2442C>A (p.Tyr814Ter)
c.2184C>A (p.Tyr728Ter)
c.2418C>A (p.Tyr806Ter)
c.2154C>A (p.Tyr718Ter)
c.2472C>A (p.Tyr824Ter)
c.2448C>A (p.Tyr816Ter)
c.2502C>A (p.Tyr834Ter)
c.1206C>A (p.Tyr402Ter)
c.2208C>A (p.Tyr736Ter)
c.1182C>A (p.Tyr394Ter)
9g.110800820C=CA1872205772MUSKc.2442C= (p.Tyr814=)
c.2184C= (p.Tyr728=)
c.2418C= (p.Tyr806=)
c.2154C= (p.Tyr718=)
c.2472C= (p.Tyr824=)
c.2448C= (p.Tyr816=)
c.2502C= (p.Tyr834=)
c.1206C= (p.Tyr402=)
c.2208C= (p.Tyr736=)
c.1182C= (p.Tyr394=)
9g.110800820C>GCA374479770MUSKc.2442C>G (p.Tyr814Ter)
c.2184C>G (p.Tyr728Ter)
c.2418C>G (p.Tyr806Ter)
c.2154C>G (p.Tyr718Ter)
c.2472C>G (p.Tyr824Ter)
c.2448C>G (p.Tyr816Ter)
c.2502C>G (p.Tyr834Ter)
c.1206C>G (p.Tyr402Ter)
c.2208C>G (p.Tyr736Ter)
c.1182C>G (p.Tyr394Ter)
9g.110800820C>TCA5184628MUSKc.2442C>T (p.Tyr814=)
c.2184C>T (p.Tyr728=)
c.2418C>T (p.Tyr806=)
c.2154C>T (p.Tyr718=)
c.2472C>T (p.Tyr824=)
c.2448C>T (p.Tyr816=)
c.2502C>T (p.Tyr834=)
c.1206C>T (p.Tyr402=)
c.2208C>T (p.Tyr736=)
c.1182C>T (p.Tyr394=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.110800821G>ACA5184631MUSKc.2443G>A (p.Val815Met)
c.2185G>A (p.Val729Met)
c.2419G>A (p.Val807Met)
c.2155G>A (p.Val719Met)
c.2473G>A (p.Val825Met)
c.2449G>A (p.Val817Met)
c.2503G>A (p.Val835Met)
c.1207G>A (p.Val403Met)
c.2209G>A (p.Val737Met)
c.1183G>A (p.Val395Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.110800821G>CCA5184630MUSKc.2443G>C (p.Val815Leu)
c.2185G>C (p.Val729Leu)
c.2419G>C (p.Val807Leu)
c.2155G>C (p.Val719Leu)
c.2473G>C (p.Val825Leu)
c.2449G>C (p.Val817Leu)
c.2503G>C (p.Val835Leu)
c.1207G>C (p.Val403Leu)
c.2209G>C (p.Val737Leu)
c.1183G>C (p.Val395Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800821G=CA1872205773MUSKc.2443G= (p.Val815=)
c.2185G= (p.Val729=)
c.2419G= (p.Val807=)
c.2155G= (p.Val719=)
c.2473G= (p.Val825=)
c.2449G= (p.Val817=)
c.2503G= (p.Val835=)
c.1207G= (p.Val403=)
c.2209G= (p.Val737=)
c.1183G= (p.Val395=)
9g.110800821G>TCA5184629MUSKc.2443G>T (p.Val815Leu)
c.2185G>T (p.Val729Leu)
c.2419G>T (p.Val807Leu)
c.2155G>T (p.Val719Leu)
c.2473G>T (p.Val825Leu)
c.2449G>T (p.Val817Leu)
c.2503G>T (p.Val835Leu)
c.1207G>T (p.Val403Leu)
c.2209G>T (p.Val737Leu)
c.1183G>T (p.Val395Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800822T>ACA374479774MUSKc.2444T>A (p.Val815Glu)
c.2186T>A (p.Val729Glu)
c.2420T>A (p.Val807Glu)
c.2156T>A (p.Val719Glu)
c.2474T>A (p.Val825Glu)
c.2450T>A (p.Val817Glu)
c.2504T>A (p.Val835Glu)
c.1208T>A (p.Val403Glu)
c.2210T>A (p.Val737Glu)
c.1184T>A (p.Val395Glu)
9g.110800822T>CCA374479775MUSKc.2444T>C (p.Val815Ala)
c.2186T>C (p.Val729Ala)
c.2420T>C (p.Val807Ala)
c.2156T>C (p.Val719Ala)
c.2474T>C (p.Val825Ala)
c.2450T>C (p.Val817Ala)
c.2504T>C (p.Val835Ala)
c.1208T>C (p.Val403Ala)
c.2210T>C (p.Val737Ala)
c.1184T>C (p.Val395Ala)
9g.110800822T>GCA374479776MUSKc.2444T>G (p.Val815Gly)
c.2186T>G (p.Val729Gly)
c.2420T>G (p.Val807Gly)
c.2156T>G (p.Val719Gly)
c.2474T>G (p.Val825Gly)
c.2450T>G (p.Val817Gly)
c.2504T>G (p.Val835Gly)
c.1208T>G (p.Val403Gly)
c.2210T>G (p.Val737Gly)
c.1184T>G (p.Val395Gly)
9g.110800823G>ACA466901654MUSKc.2445G>A (p.Val815=)
c.2187G>A (p.Val729=)
c.2421G>A (p.Val807=)
c.2157G>A (p.Val719=)
c.2475G>A (p.Val825=)
c.2451G>A (p.Val817=)
c.2505G>A (p.Val835=)
c.1209G>A (p.Val403=)
c.2211G>A (p.Val737=)
c.1185G>A (p.Val395=)
9g.110800823G>CCA466901655MUSKc.2445G>C (p.Val815=)
c.2187G>C (p.Val729=)
c.2421G>C (p.Val807=)
c.2157G>C (p.Val719=)
c.2475G>C (p.Val825=)
c.2451G>C (p.Val817=)
c.2505G>C (p.Val835=)
c.1209G>C (p.Val403=)
c.2211G>C (p.Val737=)
c.1185G>C (p.Val395=)
9g.110800823G>TCA466901656MUSKc.2445G>T (p.Val815=)
c.2187G>T (p.Val729=)
c.2421G>T (p.Val807=)
c.2157G>T (p.Val719=)
c.2475G>T (p.Val825=)
c.2451G>T (p.Val817=)
c.2505G>T (p.Val835=)
c.1209G>T (p.Val403=)
c.2211G>T (p.Val737=)
c.1185G>T (p.Val395=)
9g.110800824C>ACA466901657MUSKc.2446C>A (p.Arg816=)
c.2188C>A (p.Arg730=)
c.2422C>A (p.Arg808=)
c.2158C>A (p.Arg720=)
c.2476C>A (p.Arg826=)
c.2452C>A (p.Arg818=)
c.2506C>A (p.Arg836=)
c.1210C>A (p.Arg404=)
c.2212C>A (p.Arg738=)
c.1186C>A (p.Arg396=)
9g.110800824C=CA1872205774MUSKc.2446C= (p.Arg816=)
c.2188C= (p.Arg730=)
c.2422C= (p.Arg808=)
c.2158C= (p.Arg720=)
c.2476C= (p.Arg826=)
c.2452C= (p.Arg818=)
c.2506C= (p.Arg836=)
c.1210C= (p.Arg404=)
c.2212C= (p.Arg738=)
c.1186C= (p.Arg396=)
9g.110800824C>GCA374479778MUSKc.2446C>G (p.Arg816Gly)
c.2188C>G (p.Arg730Gly)
c.2422C>G (p.Arg808Gly)
c.2158C>G (p.Arg720Gly)
c.2476C>G (p.Arg826Gly)
c.2452C>G (p.Arg818Gly)
c.2506C>G (p.Arg836Gly)
c.1210C>G (p.Arg404Gly)
c.2212C>G (p.Arg738Gly)
c.1186C>G (p.Arg396Gly)
9g.110800824C>TCA374479779MUSKc.2446C>T (p.Arg816Ter)
c.2188C>T (p.Arg730Ter)
c.2422C>T (p.Arg808Ter)
c.2158C>T (p.Arg720Ter)
c.2476C>T (p.Arg826Ter)
c.2452C>T (p.Arg818Ter)
c.2506C>T (p.Arg836Ter)
c.1210C>T (p.Arg404Ter)
c.2212C>T (p.Arg738Ter)
c.1186C>T (p.Arg396Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.110800825G>ACA5184632MUSKc.2447G>A (p.Arg816Gln)
c.2189G>A (p.Arg730Gln)
c.2423G>A (p.Arg808Gln)
c.2159G>A (p.Arg720Gln)
c.2477G>A (p.Arg826Gln)
c.2453G>A (p.Arg818Gln)
c.2507G>A (p.Arg836Gln)
c.1211G>A (p.Arg404Gln)
c.2213G>A (p.Arg738Gln)
c.1187G>A (p.Arg396Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.110800825G>CCA374479782MUSKc.2447G>C (p.Arg816Pro)
c.2189G>C (p.Arg730Pro)
c.2423G>C (p.Arg808Pro)
c.2159G>C (p.Arg720Pro)
c.2477G>C (p.Arg826Pro)
c.2453G>C (p.Arg818Pro)
c.2507G>C (p.Arg836Pro)
c.1211G>C (p.Arg404Pro)
c.2213G>C (p.Arg738Pro)
c.1187G>C (p.Arg396Pro)
9g.110800825G=CA1872205775MUSKc.2447G= (p.Arg816=)
c.2189G= (p.Arg730=)
c.2423G= (p.Arg808=)
c.2159G= (p.Arg720=)
c.2477G= (p.Arg826=)
c.2453G= (p.Arg818=)
c.2507G= (p.Arg836=)
c.1211G= (p.Arg404=)
c.2213G= (p.Arg738=)
c.1187G= (p.Arg396=)
9g.110800825G>TCA374479784MUSKc.2447G>T (p.Arg816Leu)
c.2189G>T (p.Arg730Leu)
c.2423G>T (p.Arg808Leu)
c.2159G>T (p.Arg720Leu)
c.2477G>T (p.Arg826Leu)
c.2453G>T (p.Arg818Leu)
c.2507G>T (p.Arg836Leu)
c.1211G>T (p.Arg404Leu)
c.2213G>T (p.Arg738Leu)
c.1187G>T (p.Arg396Leu)
 ClinVar
9g.110800826A>CCA466901660MUSKc.2448A>C (p.Arg816=)
c.2190A>C (p.Arg730=)
c.2424A>C (p.Arg808=)
c.2160A>C (p.Arg720=)
c.2478A>C (p.Arg826=)
c.2454A>C (p.Arg818=)
c.2508A>C (p.Arg836=)
c.1212A>C (p.Arg404=)
c.2214A>C (p.Arg738=)
c.1188A>C (p.Arg396=)
9g.110800826A>GCA466901663MUSKc.2448A>G (p.Arg816=)
c.2190A>G (p.Arg730=)
c.2424A>G (p.Arg808=)
c.2160A>G (p.Arg720=)
c.2478A>G (p.Arg826=)
c.2454A>G (p.Arg818=)
c.2508A>G (p.Arg836=)
c.1212A>G (p.Arg404=)
c.2214A>G (p.Arg738=)
c.1188A>G (p.Arg396=)
9g.110800826A>TCA466901666MUSKc.2448A>T (p.Arg816=)
c.2190A>T (p.Arg730=)
c.2424A>T (p.Arg808=)
c.2160A>T (p.Arg720=)
c.2478A>T (p.Arg826=)
c.2454A>T (p.Arg818=)
c.2508A>T (p.Arg836=)
c.1212A>T (p.Arg404=)
c.2214A>T (p.Arg738=)
c.1188A>T (p.Arg396=)
9g.110800827G>ACA198363918MUSKc.2449G>A (p.Asp817Asn)
c.2191G>A (p.Asp731Asn)
c.2425G>A (p.Asp809Asn)
c.2161G>A (p.Asp721Asn)
c.2479G>A (p.Asp827Asn)
c.2455G>A (p.Asp819Asn)
c.2509G>A (p.Asp837Asn)
c.1213G>A (p.Asp405Asn)
c.2215G>A (p.Asp739Asn)
c.1189G>A (p.Asp397Asn)
 dbSNP
9g.110800827G>CCA374479785MUSKc.2449G>C (p.Asp817His)
c.2191G>C (p.Asp731His)
c.2425G>C (p.Asp809His)
c.2161G>C (p.Asp721His)
c.2479G>C (p.Asp827His)
c.2455G>C (p.Asp819His)
c.2509G>C (p.Asp837His)
c.1213G>C (p.Asp405His)
c.2215G>C (p.Asp739His)
c.1189G>C (p.Asp397His)
9g.110800827G=CA1872205776MUSKc.2449G= (p.Asp817=)
c.2191G= (p.Asp731=)
c.2425G= (p.Asp809=)
c.2161G= (p.Asp721=)
c.2479G= (p.Asp827=)
c.2455G= (p.Asp819=)
c.2509G= (p.Asp837=)
c.1213G= (p.Asp405=)
c.2215G= (p.Asp739=)
c.1189G= (p.Asp397=)
9g.110800827G>TCA374479788MUSKc.2449G>T (p.Asp817Tyr)
c.2191G>T (p.Asp731Tyr)
c.2425G>T (p.Asp809Tyr)
c.2161G>T (p.Asp721Tyr)
c.2479G>T (p.Asp827Tyr)
c.2455G>T (p.Asp819Tyr)
c.2509G>T (p.Asp837Tyr)
c.1213G>T (p.Asp405Tyr)
c.2215G>T (p.Asp739Tyr)
c.1189G>T (p.Asp397Tyr)
9g.110800828A=CA1872205777MUSKc.2450A= (p.Asp817=)
c.2192A= (p.Asp731=)
c.2426A= (p.Asp809=)
c.2162A= (p.Asp721=)
c.2480A= (p.Asp827=)
c.2456A= (p.Asp819=)
c.2510A= (p.Asp837=)
c.1214A= (p.Asp405=)
c.2216A= (p.Asp739=)
c.1190A= (p.Asp397=)
9g.110800828A>CCA374479791MUSKc.2450A>C (p.Asp817Ala)
c.2192A>C (p.Asp731Ala)
c.2426A>C (p.Asp809Ala)
c.2162A>C (p.Asp721Ala)
c.2480A>C (p.Asp827Ala)
c.2456A>C (p.Asp819Ala)
c.2510A>C (p.Asp837Ala)
c.1214A>C (p.Asp405Ala)
c.2216A>C (p.Asp739Ala)
c.1190A>C (p.Asp397Ala)
9g.110800828A>GCA374479792MUSKc.2450A>G (p.Asp817Gly)
c.2192A>G (p.Asp731Gly)
c.2426A>G (p.Asp809Gly)
c.2162A>G (p.Asp721Gly)
c.2480A>G (p.Asp827Gly)
c.2456A>G (p.Asp819Gly)
c.2510A>G (p.Asp837Gly)
c.1214A>G (p.Asp405Gly)
c.2216A>G (p.Asp739Gly)
c.1190A>G (p.Asp397Gly)
9g.110800828A>TCA374479790MUSKc.2450A>T (p.Asp817Val)
c.2192A>T (p.Asp731Val)
c.2426A>T (p.Asp809Val)
c.2162A>T (p.Asp721Val)
c.2480A>T (p.Asp827Val)
c.2456A>T (p.Asp819Val)
c.2510A>T (p.Asp837Val)
c.1214A>T (p.Asp405Val)
c.2216A>T (p.Asp739Val)
c.1190A>T (p.Asp397Val)
 dbSNP
9g.110800829T>ACA374479794MUSKc.2451T>A (p.Asp817Glu)
c.2193T>A (p.Asp731Glu)
c.2427T>A (p.Asp809Glu)
c.2163T>A (p.Asp721Glu)
c.2481T>A (p.Asp827Glu)
c.2457T>A (p.Asp819Glu)
c.2511T>A (p.Asp837Glu)
c.1215T>A (p.Asp405Glu)
c.2217T>A (p.Asp739Glu)
c.1191T>A (p.Asp397Glu)
9g.110800829T>CCA466901673MUSKc.2451T>C (p.Asp817=)
c.2193T>C (p.Asp731=)
c.2427T>C (p.Asp809=)
c.2163T>C (p.Asp721=)
c.2481T>C (p.Asp827=)
c.2457T>C (p.Asp819=)
c.2511T>C (p.Asp837=)
c.1215T>C (p.Asp405=)
c.2217T>C (p.Asp739=)
c.1191T>C (p.Asp397=)
 ClinVar dbSNP gnomAD v4
9g.110800829T>GCA374479795MUSKc.2451T>G (p.Asp817Glu)
c.2193T>G (p.Asp731Glu)
c.2427T>G (p.Asp809Glu)
c.2163T>G (p.Asp721Glu)
c.2481T>G (p.Asp827Glu)
c.2457T>G (p.Asp819Glu)
c.2511T>G (p.Asp837Glu)
c.1215T>G (p.Asp405Glu)
c.2217T>G (p.Asp739Glu)
c.1191T>G (p.Asp397Glu)
9g.110800829T=CA1872205778MUSKc.2451T= (p.Asp817=)
c.2193T= (p.Asp731=)
c.2427T= (p.Asp809=)
c.2163T= (p.Asp721=)
c.2481T= (p.Asp827=)
c.2457T= (p.Asp819=)
c.2511T= (p.Asp837=)
c.1215T= (p.Asp405=)
c.2217T= (p.Asp739=)
c.1191T= (p.Asp397=)
9g.110800830G>ACA374479797MUSKc.2452G>A (p.Gly818Ser)
c.2194G>A (p.Gly732Ser)
c.2428G>A (p.Gly810Ser)
c.2164G>A (p.Gly722Ser)
c.2482G>A (p.Gly828Ser)
c.2458G>A (p.Gly820Ser)
c.2512G>A (p.Gly838Ser)
c.1216G>A (p.Gly406Ser)
c.2218G>A (p.Gly740Ser)
c.1192G>A (p.Gly398Ser)
9g.110800830G>CCA374479799MUSKc.2452G>C (p.Gly818Arg)
c.2194G>C (p.Gly732Arg)
c.2428G>C (p.Gly810Arg)
c.2164G>C (p.Gly722Arg)
c.2482G>C (p.Gly828Arg)
c.2458G>C (p.Gly820Arg)
c.2512G>C (p.Gly838Arg)
c.1216G>C (p.Gly406Arg)
c.2218G>C (p.Gly740Arg)
c.1192G>C (p.Gly398Arg)
9g.110800830G>TCA374479800MUSKc.2452G>T (p.Gly818Cys)
c.2194G>T (p.Gly732Cys)
c.2428G>T (p.Gly810Cys)
c.2164G>T (p.Gly722Cys)
c.2482G>T (p.Gly828Cys)
c.2458G>T (p.Gly820Cys)
c.2512G>T (p.Gly838Cys)
c.1216G>T (p.Gly406Cys)
c.2218G>T (p.Gly740Cys)
c.1192G>T (p.Gly398Cys)
9g.110800831G>ACA5184633MUSKc.2453G>A (p.Gly818Asp)
c.2195G>A (p.Gly732Asp)
c.2429G>A (p.Gly810Asp)
c.2165G>A (p.Gly722Asp)
c.2483G>A (p.Gly828Asp)
c.2459G>A (p.Gly820Asp)
c.2513G>A (p.Gly838Asp)
c.1217G>A (p.Gly406Asp)
c.2219G>A (p.Gly740Asp)
c.1193G>A (p.Gly398Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800831G>CCA374479801MUSKc.2453G>C (p.Gly818Ala)
c.2195G>C (p.Gly732Ala)
c.2429G>C (p.Gly810Ala)
c.2165G>C (p.Gly722Ala)
c.2483G>C (p.Gly828Ala)
c.2459G>C (p.Gly820Ala)
c.2513G>C (p.Gly838Ala)
c.1217G>C (p.Gly406Ala)
c.2219G>C (p.Gly740Ala)
c.1193G>C (p.Gly398Ala)
9g.110800831G=CA1872205779MUSKc.2453G= (p.Gly818=)
c.2195G= (p.Gly732=)
c.2429G= (p.Gly810=)
c.2165G= (p.Gly722=)
c.2483G= (p.Gly828=)
c.2459G= (p.Gly820=)
c.2513G= (p.Gly838=)
c.1217G= (p.Gly406=)
c.2219G= (p.Gly740=)
c.1193G= (p.Gly398=)
9g.110800831G>TCA374479802MUSKc.2453G>T (p.Gly818Val)
c.2195G>T (p.Gly732Val)
c.2429G>T (p.Gly810Val)
c.2165G>T (p.Gly722Val)
c.2483G>T (p.Gly828Val)
c.2459G>T (p.Gly820Val)
c.2513G>T (p.Gly838Val)
c.1217G>T (p.Gly406Val)
c.2219G>T (p.Gly740Val)
c.1193G>T (p.Gly398Val)
9g.110800832C>ACA466901677MUSKc.2454C>A (p.Gly818=)
c.2196C>A (p.Gly732=)
c.2430C>A (p.Gly810=)
c.2166C>A (p.Gly722=)
c.2484C>A (p.Gly828=)
c.2460C>A (p.Gly820=)
c.2514C>A (p.Gly838=)
c.1218C>A (p.Gly406=)
c.2220C>A (p.Gly740=)
c.1194C>A (p.Gly398=)
9g.110800832C>GCA466901679MUSKc.2454C>G (p.Gly818=)
c.2196C>G (p.Gly732=)
c.2430C>G (p.Gly810=)
c.2166C>G (p.Gly722=)
c.2484C>G (p.Gly828=)
c.2460C>G (p.Gly820=)
c.2514C>G (p.Gly838=)
c.1218C>G (p.Gly406=)
c.2220C>G (p.Gly740=)
c.1194C>G (p.Gly398=)
9g.110800832C>TCA466901680MUSKc.2454C>T (p.Gly818=)
c.2196C>T (p.Gly732=)
c.2430C>T (p.Gly810=)
c.2166C>T (p.Gly722=)
c.2484C>T (p.Gly828=)
c.2460C>T (p.Gly820=)
c.2514C>T (p.Gly838=)
c.1218C>T (p.Gly406=)
c.2220C>T (p.Gly740=)
c.1194C>T (p.Gly398=)
 gnomAD v4
9g.110800833A>CCA374479805MUSKc.2455A>C (p.Asn819His)
c.2197A>C (p.Asn733His)
c.2431A>C (p.Asn811His)
c.2167A>C (p.Asn723His)
c.2485A>C (p.Asn829His)
c.2461A>C (p.Asn821His)
c.2515A>C (p.Asn839His)
c.1219A>C (p.Asn407His)
c.2221A>C (p.Asn741His)
c.1195A>C (p.Asn399His)
9g.110800833A>GCA374479806MUSKc.2455A>G (p.Asn819Asp)
c.2197A>G (p.Asn733Asp)
c.2431A>G (p.Asn811Asp)
c.2167A>G (p.Asn723Asp)
c.2485A>G (p.Asn829Asp)
c.2461A>G (p.Asn821Asp)
c.2515A>G (p.Asn839Asp)
c.1219A>G (p.Asn407Asp)
c.2221A>G (p.Asn741Asp)
c.1195A>G (p.Asn399Asp)
9g.110800833A>TCA374479807MUSKc.2455A>T (p.Asn819Tyr)
c.2197A>T (p.Asn733Tyr)
c.2431A>T (p.Asn811Tyr)
c.2167A>T (p.Asn723Tyr)
c.2485A>T (p.Asn829Tyr)
c.2461A>T (p.Asn821Tyr)
c.2515A>T (p.Asn839Tyr)
c.1219A>T (p.Asn407Tyr)
c.2221A>T (p.Asn741Tyr)
c.1195A>T (p.Asn399Tyr)
9g.110800834A=CA1872205780MUSKc.2456A= (p.Asn819=)
c.2198A= (p.Asn733=)
c.2432A= (p.Asn811=)
c.2168A= (p.Asn723=)
c.2486A= (p.Asn829=)
c.2462A= (p.Asn821=)
c.2516A= (p.Asn839=)
c.1220A= (p.Asn407=)
c.2222A= (p.Asn741=)
c.1196A= (p.Asn399=)
9g.110800834A>CCA374479809MUSKc.2456A>C (p.Asn819Thr)
c.2198A>C (p.Asn733Thr)
c.2432A>C (p.Asn811Thr)
c.2168A>C (p.Asn723Thr)
c.2486A>C (p.Asn829Thr)
c.2462A>C (p.Asn821Thr)
c.2516A>C (p.Asn839Thr)
c.1220A>C (p.Asn407Thr)
c.2222A>C (p.Asn741Thr)
c.1196A>C (p.Asn399Thr)
9g.110800834A>GCA5184634MUSKc.2456A>G (p.Asn819Ser)
c.2198A>G (p.Asn733Ser)
c.2432A>G (p.Asn811Ser)
c.2168A>G (p.Asn723Ser)
c.2486A>G (p.Asn829Ser)
c.2462A>G (p.Asn821Ser)
c.2516A>G (p.Asn839Ser)
c.1220A>G (p.Asn407Ser)
c.2222A>G (p.Asn741Ser)
c.1196A>G (p.Asn399Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.110800834A>TCA374479811MUSKc.2456A>T (p.Asn819Ile)
c.2198A>T (p.Asn733Ile)
c.2432A>T (p.Asn811Ile)
c.2168A>T (p.Asn723Ile)
c.2486A>T (p.Asn829Ile)
c.2462A>T (p.Asn821Ile)
c.2516A>T (p.Asn839Ile)
c.1220A>T (p.Asn407Ile)
c.2222A>T (p.Asn741Ile)
c.1196A>T (p.Asn399Ile)
9g.110800835C>ACA374479813MUSKc.2457C>A (p.Asn819Lys)
c.2199C>A (p.Asn733Lys)
c.2433C>A (p.Asn811Lys)
c.2169C>A (p.Asn723Lys)
c.2487C>A (p.Asn829Lys)
c.2463C>A (p.Asn821Lys)
c.2517C>A (p.Asn839Lys)
c.1221C>A (p.Asn407Lys)
c.2223C>A (p.Asn741Lys)
c.1197C>A (p.Asn399Lys)
9g.110800835C=CA1872205781MUSKc.2457C= (p.Asn819=)
c.2199C= (p.Asn733=)
c.2433C= (p.Asn811=)
c.2169C= (p.Asn723=)
c.2487C= (p.Asn829=)
c.2463C= (p.Asn821=)
c.2517C= (p.Asn839=)
c.1221C= (p.Asn407=)
c.2223C= (p.Asn741=)
c.1197C= (p.Asn399=)
9g.110800835C>GCA374479814MUSKc.2457C>G (p.Asn819Lys)
c.2199C>G (p.Asn733Lys)
c.2433C>G (p.Asn811Lys)
c.2169C>G (p.Asn723Lys)
c.2487C>G (p.Asn829Lys)
c.2463C>G (p.Asn821Lys)
c.2517C>G (p.Asn839Lys)
c.1221C>G (p.Asn407Lys)
c.2223C>G (p.Asn741Lys)
c.1197C>G (p.Asn399Lys)
9g.110800835C>TCA466901685MUSKc.2457C>T (p.Asn819=)
c.2199C>T (p.Asn733=)
c.2433C>T (p.Asn811=)
c.2169C>T (p.Asn723=)
c.2487C>T (p.Asn829=)
c.2463C>T (p.Asn821=)
c.2517C>T (p.Asn839=)
c.1221C>T (p.Asn407=)
c.2223C>T (p.Asn741=)
c.1197C>T (p.Asn399=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.110800836A=CA1872205782MUSKc.2458A= (p.Ile820=)
c.2200A= (p.Ile734=)
c.2434A= (p.Ile812=)
c.2170A= (p.Ile724=)
c.2488A= (p.Ile830=)
c.2464A= (p.Ile822=)
c.2518A= (p.Ile840=)
c.1222A= (p.Ile408=)
c.2224A= (p.Ile742=)
c.1198A= (p.Ile400=)
9g.110800836A>CCA5184635MUSKc.2458A>C (p.Ile820Leu)
c.2200A>C (p.Ile734Leu)
c.2434A>C (p.Ile812Leu)
c.2170A>C (p.Ile724Leu)
c.2488A>C (p.Ile830Leu)
c.2464A>C (p.Ile822Leu)
c.2518A>C (p.Ile840Leu)
c.1222A>C (p.Ile408Leu)
c.2224A>C (p.Ile742Leu)
c.1198A>C (p.Ile400Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800836A>GCA374479816MUSKc.2458A>G (p.Ile820Val)
c.2200A>G (p.Ile734Val)
c.2434A>G (p.Ile812Val)
c.2170A>G (p.Ile724Val)
c.2488A>G (p.Ile830Val)
c.2464A>G (p.Ile822Val)
c.2518A>G (p.Ile840Val)
c.1222A>G (p.Ile408Val)
c.2224A>G (p.Ile742Val)
c.1198A>G (p.Ile400Val)
9g.110800836A>TCA374479820MUSKc.2458A>T (p.Ile820Phe)
c.2200A>T (p.Ile734Phe)
c.2434A>T (p.Ile812Phe)
c.2170A>T (p.Ile724Phe)
c.2488A>T (p.Ile830Phe)
c.2464A>T (p.Ile822Phe)
c.2518A>T (p.Ile840Phe)
c.1222A>T (p.Ile408Phe)
c.2224A>T (p.Ile742Phe)
c.1198A>T (p.Ile400Phe)
9g.110800837T>ACA374479822MUSKc.2459T>A (p.Ile820Asn)
c.2201T>A (p.Ile734Asn)
c.2435T>A (p.Ile812Asn)
c.2171T>A (p.Ile724Asn)
c.2489T>A (p.Ile830Asn)
c.2465T>A (p.Ile822Asn)
c.2519T>A (p.Ile840Asn)
c.1223T>A (p.Ile408Asn)
c.2225T>A (p.Ile742Asn)
c.1199T>A (p.Ile400Asn)
9g.110800837T>CCA374479824MUSKc.2459T>C (p.Ile820Thr)
c.2201T>C (p.Ile734Thr)
c.2435T>C (p.Ile812Thr)
c.2171T>C (p.Ile724Thr)
c.2489T>C (p.Ile830Thr)
c.2465T>C (p.Ile822Thr)
c.2519T>C (p.Ile840Thr)
c.1223T>C (p.Ile408Thr)
c.2225T>C (p.Ile742Thr)
c.1199T>C (p.Ile400Thr)
 dbSNP gnomAD v4
9g.110800837T>GCA374479825MUSKc.2459T>G (p.Ile820Ser)
c.2201T>G (p.Ile734Ser)
c.2435T>G (p.Ile812Ser)
c.2171T>G (p.Ile724Ser)
c.2489T>G (p.Ile830Ser)
c.2465T>G (p.Ile822Ser)
c.2519T>G (p.Ile840Ser)
c.1223T>G (p.Ile408Ser)
c.2225T>G (p.Ile742Ser)
c.1199T>G (p.Ile400Ser)
9g.110800837T=CA1872205783MUSKc.2459T= (p.Ile820=)
c.2201T= (p.Ile734=)
c.2435T= (p.Ile812=)
c.2171T= (p.Ile724=)
c.2489T= (p.Ile830=)
c.2465T= (p.Ile822=)
c.2519T= (p.Ile840=)
c.1223T= (p.Ile408=)
c.2225T= (p.Ile742=)
c.1199T= (p.Ile400=)
9g.110800838C>ACA466901688MUSKc.2460C>A (p.Ile820=)
c.2202C>A (p.Ile734=)
c.2436C>A (p.Ile812=)
c.2172C>A (p.Ile724=)
c.2490C>A (p.Ile830=)
c.2466C>A (p.Ile822=)
c.2520C>A (p.Ile840=)
c.1224C>A (p.Ile408=)
c.2226C>A (p.Ile742=)
c.1200C>A (p.Ile400=)
 dbSNP gnomAD v2
9g.110800838C=CA1872205784MUSKc.2460C= (p.Ile820=)
c.2202C= (p.Ile734=)
c.2436C= (p.Ile812=)
c.2172C= (p.Ile724=)
c.2490C= (p.Ile830=)
c.2466C= (p.Ile822=)
c.2520C= (p.Ile840=)
c.1224C= (p.Ile408=)
c.2226C= (p.Ile742=)
c.1200C= (p.Ile400=)
9g.110800838C>GCA374479827MUSKc.2460C>G (p.Ile820Met)
c.2202C>G (p.Ile734Met)
c.2436C>G (p.Ile812Met)
c.2172C>G (p.Ile724Met)
c.2490C>G (p.Ile830Met)
c.2466C>G (p.Ile822Met)
c.2520C>G (p.Ile840Met)
c.1224C>G (p.Ile408Met)
c.2226C>G (p.Ile742Met)
c.1200C>G (p.Ile400Met)
9g.110800838C>TCA466901689MUSKc.2460C>T (p.Ile820=)
c.2202C>T (p.Ile734=)
c.2436C>T (p.Ile812=)
c.2172C>T (p.Ile724=)
c.2490C>T (p.Ile830=)
c.2466C>T (p.Ile822=)
c.2520C>T (p.Ile840=)
c.1224C>T (p.Ile408=)
c.2226C>T (p.Ile742=)
c.1200C>T (p.Ile400=)
9g.110800839C>ACA374479829MUSKc.2461C>A (p.Leu821Ile)
c.2203C>A (p.Leu735Ile)
c.2437C>A (p.Leu813Ile)
c.2173C>A (p.Leu725Ile)
c.2491C>A (p.Leu831Ile)
c.2467C>A (p.Leu823Ile)
c.2521C>A (p.Leu841Ile)
c.1225C>A (p.Leu409Ile)
c.2227C>A (p.Leu743Ile)
c.1201C>A (p.Leu401Ile)
9g.110800839C=CA1872205785MUSKc.2461C= (p.Leu821=)
c.2203C= (p.Leu735=)
c.2437C= (p.Leu813=)
c.2173C= (p.Leu725=)
c.2491C= (p.Leu831=)
c.2467C= (p.Leu823=)
c.2521C= (p.Leu841=)
c.1225C= (p.Leu409=)
c.2227C= (p.Leu743=)
c.1201C= (p.Leu401=)
9g.110800839C>GCA374479831MUSKc.2461C>G (p.Leu821Val)
c.2203C>G (p.Leu735Val)
c.2437C>G (p.Leu813Val)
c.2173C>G (p.Leu725Val)
c.2491C>G (p.Leu831Val)
c.2467C>G (p.Leu823Val)
c.2521C>G (p.Leu841Val)
c.1225C>G (p.Leu409Val)
c.2227C>G (p.Leu743Val)
c.1201C>G (p.Leu401Val)
9g.110800839C>TCA374479832MUSKc.2461C>T (p.Leu821Phe)
c.2203C>T (p.Leu735Phe)
c.2437C>T (p.Leu813Phe)
c.2173C>T (p.Leu725Phe)
c.2491C>T (p.Leu831Phe)
c.2467C>T (p.Leu823Phe)
c.2521C>T (p.Leu841Phe)
c.1225C>T (p.Leu409Phe)
c.2227C>T (p.Leu743Phe)
c.1201C>T (p.Leu401Phe)
 ClinVar dbSNP
9g.110800840T>ACA374479834MUSKc.2462T>A (p.Leu821His)
c.2204T>A (p.Leu735His)
c.2438T>A (p.Leu813His)
c.2174T>A (p.Leu725His)
c.2492T>A (p.Leu831His)
c.2468T>A (p.Leu823His)
c.2522T>A (p.Leu841His)
c.1226T>A (p.Leu409His)
c.2228T>A (p.Leu743His)
c.1202T>A (p.Leu401His)
9g.110800840T>CCA374479836MUSKc.2462T>C (p.Leu821Pro)
c.2204T>C (p.Leu735Pro)
c.2438T>C (p.Leu813Pro)
c.2174T>C (p.Leu725Pro)
c.2492T>C (p.Leu831Pro)
c.2468T>C (p.Leu823Pro)
c.2522T>C (p.Leu841Pro)
c.1226T>C (p.Leu409Pro)
c.2228T>C (p.Leu743Pro)
c.1202T>C (p.Leu401Pro)
 ClinVar dbSNP
9g.110800840T>GCA374479837MUSKc.2462T>G (p.Leu821Arg)
c.2204T>G (p.Leu735Arg)
c.2438T>G (p.Leu813Arg)
c.2174T>G (p.Leu725Arg)
c.2492T>G (p.Leu831Arg)
c.2468T>G (p.Leu823Arg)
c.2522T>G (p.Leu841Arg)
c.1226T>G (p.Leu409Arg)
c.2228T>G (p.Leu743Arg)
c.1202T>G (p.Leu401Arg)
9g.110800840T=CA1872205786MUSKc.2462T= (p.Leu821=)
c.2204T= (p.Leu735=)
c.2438T= (p.Leu813=)
c.2174T= (p.Leu725=)
c.2492T= (p.Leu831=)
c.2468T= (p.Leu823=)
c.2522T= (p.Leu841=)
c.1226T= (p.Leu409=)
c.2228T= (p.Leu743=)
c.1202T= (p.Leu401=)
9g.110800841C>ACA466901694MUSKc.2463C>A (p.Leu821=)
c.2205C>A (p.Leu735=)
c.2439C>A (p.Leu813=)
c.2175C>A (p.Leu725=)
c.2493C>A (p.Leu831=)
c.2469C>A (p.Leu823=)
c.2523C>A (p.Leu841=)
c.1227C>A (p.Leu409=)
c.2229C>A (p.Leu743=)
c.1203C>A (p.Leu401=)
9g.110800841C=CA1872205787MUSKc.2463C= (p.Leu821=)
c.2205C= (p.Leu735=)
c.2439C= (p.Leu813=)
c.2175C= (p.Leu725=)
c.2493C= (p.Leu831=)
c.2469C= (p.Leu823=)
c.2523C= (p.Leu841=)
c.1227C= (p.Leu409=)
c.2229C= (p.Leu743=)
c.1203C= (p.Leu401=)
9g.110800841C>GCA466901695MUSKc.2463C>G (p.Leu821=)
c.2205C>G (p.Leu735=)
c.2439C>G (p.Leu813=)
c.2175C>G (p.Leu725=)
c.2493C>G (p.Leu831=)
c.2469C>G (p.Leu823=)
c.2523C>G (p.Leu841=)
c.1227C>G (p.Leu409=)
c.2229C>G (p.Leu743=)
c.1203C>G (p.Leu401=)
9g.110800841C>TCA466901700MUSKc.2463C>T (p.Leu821=)
c.2205C>T (p.Leu735=)
c.2439C>T (p.Leu813=)
c.2175C>T (p.Leu725=)
c.2493C>T (p.Leu831=)
c.2469C>T (p.Leu823=)
c.2523C>T (p.Leu841=)
c.1227C>T (p.Leu409=)
c.2229C>T (p.Leu743=)
c.1203C>T (p.Leu401=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.110800842T>ACA374479839MUSKc.2464T>A (p.Ser822Thr)
c.2206T>A (p.Ser736Thr)
c.2440T>A (p.Ser814Thr)
c.2176T>A (p.Ser726Thr)
c.2494T>A (p.Ser832Thr)
c.2470T>A (p.Ser824Thr)
c.2524T>A (p.Ser842Thr)
c.1228T>A (p.Ser410Thr)
c.2230T>A (p.Ser744Thr)
c.1204T>A (p.Ser402Thr)
9g.110800842T>CCA374479841MUSKc.2464T>C (p.Ser822Pro)
c.2206T>C (p.Ser736Pro)
c.2440T>C (p.Ser814Pro)
c.2176T>C (p.Ser726Pro)
c.2494T>C (p.Ser832Pro)
c.2470T>C (p.Ser824Pro)
c.2524T>C (p.Ser842Pro)
c.1228T>C (p.Ser410Pro)
c.2230T>C (p.Ser744Pro)
c.1204T>C (p.Ser402Pro)
9g.110800842T>GCA374479840MUSKc.2464T>G (p.Ser822Ala)
c.2206T>G (p.Ser736Ala)
c.2440T>G (p.Ser814Ala)
c.2176T>G (p.Ser726Ala)
c.2494T>G (p.Ser832Ala)
c.2470T>G (p.Ser824Ala)
c.2524T>G (p.Ser842Ala)
c.1228T>G (p.Ser410Ala)
c.2230T>G (p.Ser744Ala)
c.1204T>G (p.Ser402Ala)
9g.110800843C>ACA374479842MUSKc.2465C>A (p.Ser822Tyr)
c.2207C>A (p.Ser736Tyr)
c.2441C>A (p.Ser814Tyr)
c.2177C>A (p.Ser726Tyr)
c.2495C>A (p.Ser832Tyr)
c.2471C>A (p.Ser824Tyr)
c.2525C>A (p.Ser842Tyr)
c.1229C>A (p.Ser410Tyr)
c.2231C>A (p.Ser744Tyr)
c.1205C>A (p.Ser402Tyr)
 dbSNP gnomAD v2 gnomAD v4
9g.110800843C=CA1872205788MUSKc.2465C= (p.Ser822=)
c.2207C= (p.Ser736=)
c.2441C= (p.Ser814=)
c.2177C= (p.Ser726=)
c.2495C= (p.Ser832=)
c.2471C= (p.Ser824=)
c.2525C= (p.Ser842=)
c.1229C= (p.Ser410=)
c.2231C= (p.Ser744=)
c.1205C= (p.Ser402=)
9g.110800843C>GCA374479843MUSKc.2465C>G (p.Ser822Cys)
c.2207C>G (p.Ser736Cys)
c.2441C>G (p.Ser814Cys)
c.2177C>G (p.Ser726Cys)
c.2495C>G (p.Ser832Cys)
c.2471C>G (p.Ser824Cys)
c.2525C>G (p.Ser842Cys)
c.1229C>G (p.Ser410Cys)
c.2231C>G (p.Ser744Cys)
c.1205C>G (p.Ser402Cys)
9g.110800843C>TCA374479845MUSKc.2465C>T (p.Ser822Phe)
c.2207C>T (p.Ser736Phe)
c.2441C>T (p.Ser814Phe)
c.2177C>T (p.Ser726Phe)
c.2495C>T (p.Ser832Phe)
c.2471C>T (p.Ser824Phe)
c.2525C>T (p.Ser842Phe)
c.1229C>T (p.Ser410Phe)
c.2231C>T (p.Ser744Phe)
c.1205C>T (p.Ser402Phe)
9g.110800844C>ACA466901706MUSKc.2466C>A (p.Ser822=)
c.2208C>A (p.Ser736=)
c.2442C>A (p.Ser814=)
c.2178C>A (p.Ser726=)
c.2496C>A (p.Ser832=)
c.2472C>A (p.Ser824=)
c.2526C>A (p.Ser842=)
c.1230C>A (p.Ser410=)
c.2232C>A (p.Ser744=)
c.1206C>A (p.Ser402=)
9g.110800844C>GCA466901707MUSKc.2466C>G (p.Ser822=)
c.2208C>G (p.Ser736=)
c.2442C>G (p.Ser814=)
c.2178C>G (p.Ser726=)
c.2496C>G (p.Ser832=)
c.2472C>G (p.Ser824=)
c.2526C>G (p.Ser842=)
c.1230C>G (p.Ser410=)
c.2232C>G (p.Ser744=)
c.1206C>G (p.Ser402=)
9g.110800844C>TCA466901708MUSKc.2466C>T (p.Ser822=)
c.2208C>T (p.Ser736=)
c.2442C>T (p.Ser814=)
c.2178C>T (p.Ser726=)
c.2496C>T (p.Ser832=)
c.2472C>T (p.Ser824=)
c.2526C>T (p.Ser842=)
c.1230C>T (p.Ser410=)
c.2232C>T (p.Ser744=)
c.1206C>T (p.Ser402=)
 gnomAD v4
9g.110800845T>ACA374479847MUSKc.2467T>A (p.Cys823Ser)
c.2209T>A (p.Cys737Ser)
c.2443T>A (p.Cys815Ser)
c.2179T>A (p.Cys727Ser)
c.2497T>A (p.Cys833Ser)
c.2473T>A (p.Cys825Ser)
c.2527T>A (p.Cys843Ser)
c.1231T>A (p.Cys411Ser)
c.2233T>A (p.Cys745Ser)
c.1207T>A (p.Cys403Ser)
9g.110800845T>CCA374479848MUSKc.2467T>C (p.Cys823Arg)
c.2209T>C (p.Cys737Arg)
c.2443T>C (p.Cys815Arg)
c.2179T>C (p.Cys727Arg)
c.2497T>C (p.Cys833Arg)
c.2473T>C (p.Cys825Arg)
c.2527T>C (p.Cys843Arg)
c.1231T>C (p.Cys411Arg)
c.2233T>C (p.Cys745Arg)
c.1207T>C (p.Cys403Arg)
9g.110800845T>GCA374479850MUSKc.2467T>G (p.Cys823Gly)
c.2209T>G (p.Cys737Gly)
c.2443T>G (p.Cys815Gly)
c.2179T>G (p.Cys727Gly)
c.2497T>G (p.Cys833Gly)
c.2473T>G (p.Cys825Gly)
c.2527T>G (p.Cys843Gly)
c.1231T>G (p.Cys411Gly)
c.2233T>G (p.Cys745Gly)
c.1207T>G (p.Cys403Gly)
9g.110800846G>ACA374479854MUSKc.2468G>A (p.Cys823Tyr)
c.2210G>A (p.Cys737Tyr)
c.2444G>A (p.Cys815Tyr)
c.2180G>A (p.Cys727Tyr)
c.2498G>A (p.Cys833Tyr)
c.2474G>A (p.Cys825Tyr)
c.2528G>A (p.Cys843Tyr)
c.1232G>A (p.Cys411Tyr)
c.2234G>A (p.Cys745Tyr)
c.1208G>A (p.Cys403Tyr)
9g.110800846G>CCA374479852MUSKc.2468G>C (p.Cys823Ser)
c.2210G>C (p.Cys737Ser)
c.2444G>C (p.Cys815Ser)
c.2180G>C (p.Cys727Ser)
c.2498G>C (p.Cys833Ser)
c.2474G>C (p.Cys825Ser)
c.2528G>C (p.Cys843Ser)
c.1232G>C (p.Cys411Ser)
c.2234G>C (p.Cys745Ser)
c.1208G>C (p.Cys403Ser)
9g.110800846G=CA1872205789MUSKc.2468G= (p.Cys823=)
c.2210G= (p.Cys737=)
c.2444G= (p.Cys815=)
c.2180G= (p.Cys727=)
c.2498G= (p.Cys833=)
c.2474G= (p.Cys825=)
c.2528G= (p.Cys843=)
c.1232G= (p.Cys411=)
c.2234G= (p.Cys745=)
c.1208G= (p.Cys403=)
9g.110800846G>TCA5184636MUSKc.2468G>T (p.Cys823Phe)
c.2210G>T (p.Cys737Phe)
c.2444G>T (p.Cys815Phe)
c.2180G>T (p.Cys727Phe)
c.2498G>T (p.Cys833Phe)
c.2474G>T (p.Cys825Phe)
c.2528G>T (p.Cys843Phe)
c.1232G>T (p.Cys411Phe)
c.2234G>T (p.Cys745Phe)
c.1208G>T (p.Cys403Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800847C>ACA374479856MUSKc.2469C>A (p.Cys823Ter)
c.2211C>A (p.Cys737Ter)
c.2445C>A (p.Cys815Ter)
c.2181C>A (p.Cys727Ter)
c.2499C>A (p.Cys833Ter)
c.2475C>A (p.Cys825Ter)
c.2529C>A (p.Cys843Ter)
c.1233C>A (p.Cys411Ter)
c.2235C>A (p.Cys745Ter)
c.1209C>A (p.Cys403Ter)
 gnomAD v4
9g.110800847C>GCA374479858MUSKc.2469C>G (p.Cys823Trp)
c.2211C>G (p.Cys737Trp)
c.2445C>G (p.Cys815Trp)
c.2181C>G (p.Cys727Trp)
c.2499C>G (p.Cys833Trp)
c.2475C>G (p.Cys825Trp)
c.2529C>G (p.Cys843Trp)
c.1233C>G (p.Cys411Trp)
c.2235C>G (p.Cys745Trp)
c.1209C>G (p.Cys403Trp)
9g.110800847C>TCA466901716MUSKc.2469C>T (p.Cys823=)
c.2211C>T (p.Cys737=)
c.2445C>T (p.Cys815=)
c.2181C>T (p.Cys727=)
c.2499C>T (p.Cys833=)
c.2475C>T (p.Cys825=)
c.2529C>T (p.Cys843=)
c.1233C>T (p.Cys411=)
c.2235C>T (p.Cys745=)
c.1209C>T (p.Cys403=)
 gnomAD v4
9g.110800849dupCA2691186948MUSKc.2471dup (p.Glu825Ter)
c.2213dup (p.Glu739Ter)
c.2447dup (p.Glu817Ter)
c.2183dup (p.Glu729Ter)
c.2501dup (p.Glu835Ter)
c.2477dup (p.Glu827Ter)
c.2531dup (p.Glu845Ter)
c.1235dup (p.Glu413Ter)
c.2237dup (p.Glu747Ter)
c.1211dup (p.Glu405Ter)
 gnomAD v4
9g.110800849delCA466901717MUSKc.2471del (p.Pro824LeufsTer?)
c.2213del (p.Pro738LeufsTer?)
c.2447del (p.Pro816LeufsTer?)
c.2183del (p.Pro728LeufsTer?)
c.2501del (p.Pro834LeufsTer?)
c.2477del (p.Pro826LeufsTer?)
c.2531del (p.Pro844LeufsTer?)
c.1235del (p.Pro412LeufsTer?)
c.2237del (p.Pro746LeufsTer?)
c.1211del (p.Pro404LeufsTer?)
 gnomAD v4 COSMIC
9g.110800848C>ACA374479859MUSKc.2470C>A (p.Pro824Thr)
c.2212C>A (p.Pro738Thr)
c.2446C>A (p.Pro816Thr)
c.2182C>A (p.Pro728Thr)
c.2500C>A (p.Pro834Thr)
c.2476C>A (p.Pro826Thr)
c.2530C>A (p.Pro844Thr)
c.1234C>A (p.Pro412Thr)
c.2236C>A (p.Pro746Thr)
c.1210C>A (p.Pro404Thr)
9g.110800848C>GCA374479861MUSKc.2470C>G (p.Pro824Ala)
c.2212C>G (p.Pro738Ala)
c.2446C>G (p.Pro816Ala)
c.2182C>G (p.Pro728Ala)
c.2500C>G (p.Pro834Ala)
c.2476C>G (p.Pro826Ala)
c.2530C>G (p.Pro844Ala)
c.1234C>G (p.Pro412Ala)
c.2236C>G (p.Pro746Ala)
c.1210C>G (p.Pro404Ala)
9g.110800848C>TCA374479862MUSKc.2470C>T (p.Pro824Ser)
c.2212C>T (p.Pro738Ser)
c.2446C>T (p.Pro816Ser)
c.2182C>T (p.Pro728Ser)
c.2500C>T (p.Pro834Ser)
c.2476C>T (p.Pro826Ser)
c.2530C>T (p.Pro844Ser)
c.1234C>T (p.Pro412Ser)
c.2236C>T (p.Pro746Ser)
c.1210C>T (p.Pro404Ser)
9g.110800849C>ACA374479864MUSKc.2471C>A (p.Pro824His)
c.2213C>A (p.Pro738His)
c.2447C>A (p.Pro816His)
c.2183C>A (p.Pro728His)
c.2501C>A (p.Pro834His)
c.2477C>A (p.Pro826His)
c.2531C>A (p.Pro844His)
c.1235C>A (p.Pro412His)
c.2237C>A (p.Pro746His)
c.1211C>A (p.Pro404His)
9g.110800849C>GCA374479868MUSKc.2471C>G (p.Pro824Arg)
c.2213C>G (p.Pro738Arg)
c.2447C>G (p.Pro816Arg)
c.2183C>G (p.Pro728Arg)
c.2501C>G (p.Pro834Arg)
c.2477C>G (p.Pro826Arg)
c.2531C>G (p.Pro844Arg)
c.1235C>G (p.Pro412Arg)
c.2237C>G (p.Pro746Arg)
c.1211C>G (p.Pro404Arg)
9g.110800849C>TCA374479866MUSKc.2471C>T (p.Pro824Leu)
c.2213C>T (p.Pro738Leu)
c.2447C>T (p.Pro816Leu)
c.2183C>T (p.Pro728Leu)
c.2501C>T (p.Pro834Leu)
c.2477C>T (p.Pro826Leu)
c.2531C>T (p.Pro844Leu)
c.1235C>T (p.Pro412Leu)
c.2237C>T (p.Pro746Leu)
c.1211C>T (p.Pro404Leu)
9g.110800850delCA2691186949MUSKc.2472del (p.Glu825ArgfsTer?)
c.2214del (p.Glu739ArgfsTer?)
c.2448del (p.Glu817ArgfsTer?)
c.2184del (p.Glu729ArgfsTer?)
c.2502del (p.Glu835ArgfsTer?)
c.2478del (p.Glu827ArgfsTer?)
c.2532del (p.Glu845ArgfsTer?)
c.1236del (p.Glu413ArgfsTer?)
c.2238del (p.Glu747ArgfsTer?)
c.1212del (p.Glu405ArgfsTer?)
 gnomAD v4
9g.110800850T>ACA466901723MUSKc.2472T>A (p.Pro824=)
c.2214T>A (p.Pro738=)
c.2448T>A (p.Pro816=)
c.2184T>A (p.Pro728=)
c.2502T>A (p.Pro834=)
c.2478T>A (p.Pro826=)
c.2532T>A (p.Pro844=)
c.1236T>A (p.Pro412=)
c.2238T>A (p.Pro746=)
c.1212T>A (p.Pro404=)
9g.110800850T>CCA466901721MUSKc.2472T>C (p.Pro824=)
c.2214T>C (p.Pro738=)
c.2448T>C (p.Pro816=)
c.2184T>C (p.Pro728=)
c.2502T>C (p.Pro834=)
c.2478T>C (p.Pro826=)
c.2532T>C (p.Pro844=)
c.1236T>C (p.Pro412=)
c.2238T>C (p.Pro746=)
c.1212T>C (p.Pro404=)
9g.110800850T>GCA466901722MUSKc.2472T>G (p.Pro824=)
c.2214T>G (p.Pro738=)
c.2448T>G (p.Pro816=)
c.2184T>G (p.Pro728=)
c.2502T>G (p.Pro834=)
c.2478T>G (p.Pro826=)
c.2532T>G (p.Pro844=)
c.1236T>G (p.Pro412=)
c.2238T>G (p.Pro746=)
c.1212T>G (p.Pro404=)
9g.110800851G>ACA374479869MUSKc.2473G>A (p.Glu825Lys)
c.2215G>A (p.Glu739Lys)
c.2449G>A (p.Glu817Lys)
c.2185G>A (p.Glu729Lys)
c.2503G>A (p.Glu835Lys)
c.2479G>A (p.Glu827Lys)
c.2533G>A (p.Glu845Lys)
c.1237G>A (p.Glu413Lys)
c.2239G>A (p.Glu747Lys)
c.1213G>A (p.Glu405Lys)
9g.110800851G>CCA374479871MUSKc.2473G>C (p.Glu825Gln)
c.2215G>C (p.Glu739Gln)
c.2449G>C (p.Glu817Gln)
c.2185G>C (p.Glu729Gln)
c.2503G>C (p.Glu835Gln)
c.2479G>C (p.Glu827Gln)
c.2533G>C (p.Glu845Gln)
c.1237G>C (p.Glu413Gln)
c.2239G>C (p.Glu747Gln)
c.1213G>C (p.Glu405Gln)
9g.110800851G>TCA374479873MUSKc.2473G>T (p.Glu825Ter)
c.2215G>T (p.Glu739Ter)
c.2449G>T (p.Glu817Ter)
c.2185G>T (p.Glu729Ter)
c.2503G>T (p.Glu835Ter)
c.2479G>T (p.Glu827Ter)
c.2533G>T (p.Glu845Ter)
c.1237G>T (p.Glu413Ter)
c.2239G>T (p.Glu747Ter)
c.1213G>T (p.Glu405Ter)

Number of alleles fetched