Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.110800653A>CCA374478972MUSKc.2275A>C (p.Asn759His)
c.2017A>C (p.Asn673His)
c.2251A>C (p.Asn751His)
c.1987A>C (p.Asn663His)
c.2305A>C (p.Asn769His)
c.2281A>C (p.Asn761His)
c.2335A>C (p.Asn779His)
c.1039A>C (p.Asn347His)
c.2041A>C (p.Asn681His)
c.1015A>C (p.Asn339His)
9g.110800653A>GCA374478976MUSKc.2275A>G (p.Asn759Asp)
c.2017A>G (p.Asn673Asp)
c.2251A>G (p.Asn751Asp)
c.1987A>G (p.Asn663Asp)
c.2305A>G (p.Asn769Asp)
c.2281A>G (p.Asn761Asp)
c.2335A>G (p.Asn779Asp)
c.1039A>G (p.Asn347Asp)
c.2041A>G (p.Asn681Asp)
c.1015A>G (p.Asn339Asp)
9g.110800653A>TCA374478977MUSKc.2275A>T (p.Asn759Tyr)
c.2017A>T (p.Asn673Tyr)
c.2251A>T (p.Asn751Tyr)
c.1987A>T (p.Asn663Tyr)
c.2305A>T (p.Asn769Tyr)
c.2281A>T (p.Asn761Tyr)
c.2335A>T (p.Asn779Tyr)
c.1039A>T (p.Asn347Tyr)
c.2041A>T (p.Asn681Tyr)
c.1015A>T (p.Asn339Tyr)
9g.110800654A>CCA374478982MUSKc.2276A>C (p.Asn759Thr)
c.2018A>C (p.Asn673Thr)
c.2252A>C (p.Asn751Thr)
c.1988A>C (p.Asn663Thr)
c.2306A>C (p.Asn769Thr)
c.2282A>C (p.Asn761Thr)
c.2336A>C (p.Asn779Thr)
c.1040A>C (p.Asn347Thr)
c.2042A>C (p.Asn681Thr)
c.1016A>C (p.Asn339Thr)
9g.110800654A>GCA374478980MUSKc.2276A>G (p.Asn759Ser)
c.2018A>G (p.Asn673Ser)
c.2252A>G (p.Asn751Ser)
c.1988A>G (p.Asn663Ser)
c.2306A>G (p.Asn769Ser)
c.2282A>G (p.Asn761Ser)
c.2336A>G (p.Asn779Ser)
c.1040A>G (p.Asn347Ser)
c.2042A>G (p.Asn681Ser)
c.1016A>G (p.Asn339Ser)
9g.110800654A>TCA374478981MUSKc.2276A>T (p.Asn759Ile)
c.2018A>T (p.Asn673Ile)
c.2252A>T (p.Asn751Ile)
c.1988A>T (p.Asn663Ile)
c.2306A>T (p.Asn769Ile)
c.2282A>T (p.Asn761Ile)
c.2336A>T (p.Asn779Ile)
c.1040A>T (p.Asn347Ile)
c.2042A>T (p.Asn681Ile)
c.1016A>T (p.Asn339Ile)
9g.110800655T>ACA374478983MUSKc.2277T>A (p.Asn759Lys)
c.2019T>A (p.Asn673Lys)
c.2253T>A (p.Asn751Lys)
c.1989T>A (p.Asn663Lys)
c.2307T>A (p.Asn769Lys)
c.2283T>A (p.Asn761Lys)
c.2337T>A (p.Asn779Lys)
c.1041T>A (p.Asn347Lys)
c.2043T>A (p.Asn681Lys)
c.1017T>A (p.Asn339Lys)
9g.110800655T>CCA466900967MUSKc.2277T>C (p.Asn759=)
c.2019T>C (p.Asn673=)
c.2253T>C (p.Asn751=)
c.1989T>C (p.Asn663=)
c.2307T>C (p.Asn769=)
c.2283T>C (p.Asn761=)
c.2337T>C (p.Asn779=)
c.1041T>C (p.Asn347=)
c.2043T>C (p.Asn681=)
c.1017T>C (p.Asn339=)
 ClinVar dbSNP gnomAD v4
9g.110800655T>GCA374478985MUSKc.2277T>G (p.Asn759Lys)
c.2019T>G (p.Asn673Lys)
c.2253T>G (p.Asn751Lys)
c.1989T>G (p.Asn663Lys)
c.2307T>G (p.Asn769Lys)
c.2283T>G (p.Asn761Lys)
c.2337T>G (p.Asn779Lys)
c.1041T>G (p.Asn347Lys)
c.2043T>G (p.Asn681Lys)
c.1017T>G (p.Asn339Lys)
9g.110800656G>ACA374478987MUSKc.2278G>A (p.Glu760Lys)
c.2020G>A (p.Glu674Lys)
c.2254G>A (p.Glu752Lys)
c.1990G>A (p.Glu664Lys)
c.2308G>A (p.Glu770Lys)
c.2284G>A (p.Glu762Lys)
c.2338G>A (p.Glu780Lys)
c.1042G>A (p.Glu348Lys)
c.2044G>A (p.Glu682Lys)
c.1018G>A (p.Glu340Lys)
 COSMIC COSMIC
9g.110800656G>CCA374478988MUSKc.2278G>C (p.Glu760Gln)
c.2020G>C (p.Glu674Gln)
c.2254G>C (p.Glu752Gln)
c.1990G>C (p.Glu664Gln)
c.2308G>C (p.Glu770Gln)
c.2284G>C (p.Glu762Gln)
c.2338G>C (p.Glu780Gln)
c.1042G>C (p.Glu348Gln)
c.2044G>C (p.Glu682Gln)
c.1018G>C (p.Glu340Gln)
 gnomAD v4
9g.110800656G>TCA374478990MUSKc.2278G>T (p.Glu760Ter)
c.2020G>T (p.Glu674Ter)
c.2254G>T (p.Glu752Ter)
c.1990G>T (p.Glu664Ter)
c.2308G>T (p.Glu770Ter)
c.2284G>T (p.Glu762Ter)
c.2338G>T (p.Glu780Ter)
c.1042G>T (p.Glu348Ter)
c.2044G>T (p.Glu682Ter)
c.1018G>T (p.Glu340Ter)
 gnomAD v4
9g.110800657A>CCA374478991MUSKc.2279A>C (p.Glu760Ala)
c.2021A>C (p.Glu674Ala)
c.2255A>C (p.Glu752Ala)
c.1991A>C (p.Glu664Ala)
c.2309A>C (p.Glu770Ala)
c.2285A>C (p.Glu762Ala)
c.2339A>C (p.Glu780Ala)
c.1043A>C (p.Glu348Ala)
c.2045A>C (p.Glu682Ala)
c.1019A>C (p.Glu340Ala)
9g.110800657A>GCA374478992MUSKc.2279A>G (p.Glu760Gly)
c.2021A>G (p.Glu674Gly)
c.2255A>G (p.Glu752Gly)
c.1991A>G (p.Glu664Gly)
c.2309A>G (p.Glu770Gly)
c.2285A>G (p.Glu762Gly)
c.2339A>G (p.Glu780Gly)
c.1043A>G (p.Glu348Gly)
c.2045A>G (p.Glu682Gly)
c.1019A>G (p.Glu340Gly)
9g.110800657A>TCA374478994MUSKc.2279A>T (p.Glu760Val)
c.2021A>T (p.Glu674Val)
c.2255A>T (p.Glu752Val)
c.1991A>T (p.Glu664Val)
c.2309A>T (p.Glu770Val)
c.2285A>T (p.Glu762Val)
c.2339A>T (p.Glu780Val)
c.1043A>T (p.Glu348Val)
c.2045A>T (p.Glu682Val)
c.1019A>T (p.Glu340Val)
9g.110800658A>CCA374478996MUSKc.2280A>C (p.Glu760Asp)
c.2022A>C (p.Glu674Asp)
c.2256A>C (p.Glu752Asp)
c.1992A>C (p.Glu664Asp)
c.2310A>C (p.Glu770Asp)
c.2286A>C (p.Glu762Asp)
c.2340A>C (p.Glu780Asp)
c.1044A>C (p.Glu348Asp)
c.2046A>C (p.Glu682Asp)
c.1020A>C (p.Glu340Asp)
9g.110800658A>GCA466900969MUSKc.2280A>G (p.Glu760=)
c.2022A>G (p.Glu674=)
c.2256A>G (p.Glu752=)
c.1992A>G (p.Glu664=)
c.2310A>G (p.Glu770=)
c.2286A>G (p.Glu762=)
c.2340A>G (p.Glu780=)
c.1044A>G (p.Glu348=)
c.2046A>G (p.Glu682=)
c.1020A>G (p.Glu340=)
9g.110800658A>TCA374479000MUSKc.2280A>T (p.Glu760Asp)
c.2022A>T (p.Glu674Asp)
c.2256A>T (p.Glu752Asp)
c.1992A>T (p.Glu664Asp)
c.2310A>T (p.Glu770Asp)
c.2286A>T (p.Glu762Asp)
c.2340A>T (p.Glu780Asp)
c.1044A>T (p.Glu348Asp)
c.2046A>T (p.Glu682Asp)
c.1020A>T (p.Glu340Asp)
9g.110800659A>CCA374479007MUSKc.2281A>C (p.Asn761His)
c.2023A>C (p.Asn675His)
c.2257A>C (p.Asn753His)
c.1993A>C (p.Asn665His)
c.2311A>C (p.Asn771His)
c.2287A>C (p.Asn763His)
c.2341A>C (p.Asn781His)
c.1045A>C (p.Asn349His)
c.2047A>C (p.Asn683His)
c.1021A>C (p.Asn341His)
 dbSNP gnomAD v3 gnomAD v4
9g.110800659A>GCA374479005MUSKc.2281A>G (p.Asn761Asp)
c.2023A>G (p.Asn675Asp)
c.2257A>G (p.Asn753Asp)
c.1993A>G (p.Asn665Asp)
c.2311A>G (p.Asn771Asp)
c.2287A>G (p.Asn763Asp)
c.2341A>G (p.Asn781Asp)
c.1045A>G (p.Asn349Asp)
c.2047A>G (p.Asn683Asp)
c.1021A>G (p.Asn341Asp)
9g.110800659A>TCA374479003MUSKc.2281A>T (p.Asn761Tyr)
c.2023A>T (p.Asn675Tyr)
c.2257A>T (p.Asn753Tyr)
c.1993A>T (p.Asn665Tyr)
c.2311A>T (p.Asn771Tyr)
c.2287A>T (p.Asn763Tyr)
c.2341A>T (p.Asn781Tyr)
c.1045A>T (p.Asn349Tyr)
c.2047A>T (p.Asn683Tyr)
c.1021A>T (p.Asn341Tyr)
9g.110800660A>CCA374479010MUSKc.2282A>C (p.Asn761Thr)
c.2024A>C (p.Asn675Thr)
c.2258A>C (p.Asn753Thr)
c.1994A>C (p.Asn665Thr)
c.2312A>C (p.Asn771Thr)
c.2288A>C (p.Asn763Thr)
c.2342A>C (p.Asn781Thr)
c.1046A>C (p.Asn349Thr)
c.2048A>C (p.Asn683Thr)
c.1022A>C (p.Asn341Thr)
9g.110800660A>GCA374479013MUSKc.2282A>G (p.Asn761Ser)
c.2024A>G (p.Asn675Ser)
c.2258A>G (p.Asn753Ser)
c.1994A>G (p.Asn665Ser)
c.2312A>G (p.Asn771Ser)
c.2288A>G (p.Asn763Ser)
c.2342A>G (p.Asn781Ser)
c.1046A>G (p.Asn349Ser)
c.2048A>G (p.Asn683Ser)
c.1022A>G (p.Asn341Ser)
9g.110800660A>TCA374479016MUSKc.2282A>T (p.Asn761Ile)
c.2024A>T (p.Asn675Ile)
c.2258A>T (p.Asn753Ile)
c.1994A>T (p.Asn665Ile)
c.2312A>T (p.Asn771Ile)
c.2288A>T (p.Asn763Ile)
c.2342A>T (p.Asn781Ile)
c.1046A>T (p.Asn349Ile)
c.2048A>T (p.Asn683Ile)
c.1022A>T (p.Asn341Ile)
9g.110800661C>ACA374479019MUSKc.2283C>A (p.Asn761Lys)
c.2025C>A (p.Asn675Lys)
c.2259C>A (p.Asn753Lys)
c.1995C>A (p.Asn665Lys)
c.2313C>A (p.Asn771Lys)
c.2289C>A (p.Asn763Lys)
c.2343C>A (p.Asn781Lys)
c.1047C>A (p.Asn349Lys)
c.2049C>A (p.Asn683Lys)
c.1023C>A (p.Asn341Lys)
9g.110800661C=CA1872205700MUSKc.2283C= (p.Asn761=)
c.2025C= (p.Asn675=)
c.2259C= (p.Asn753=)
c.1995C= (p.Asn665=)
c.2313C= (p.Asn771=)
c.2289C= (p.Asn763=)
c.2343C= (p.Asn781=)
c.1047C= (p.Asn349=)
c.2049C= (p.Asn683=)
c.1023C= (p.Asn341=)
9g.110800661C>GCA374479021MUSKc.2283C>G (p.Asn761Lys)
c.2025C>G (p.Asn675Lys)
c.2259C>G (p.Asn753Lys)
c.1995C>G (p.Asn665Lys)
c.2313C>G (p.Asn771Lys)
c.2289C>G (p.Asn763Lys)
c.2343C>G (p.Asn781Lys)
c.1047C>G (p.Asn349Lys)
c.2049C>G (p.Asn683Lys)
c.1023C>G (p.Asn341Lys)
9g.110800661C>TCA5184598MUSKc.2283C>T (p.Asn761=)
c.2025C>T (p.Asn675=)
c.2259C>T (p.Asn753=)
c.1995C>T (p.Asn665=)
c.2313C>T (p.Asn771=)
c.2289C>T (p.Asn763=)
c.2343C>T (p.Asn781=)
c.1047C>T (p.Asn349=)
c.2049C>T (p.Asn683=)
c.1023C>T (p.Asn341=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.110800662G>ACA374479027MUSKc.2284G>A (p.Asp762Asn)
c.2026G>A (p.Asp676Asn)
c.2260G>A (p.Asp754Asn)
c.1996G>A (p.Asp666Asn)
c.2314G>A (p.Asp772Asn)
c.2290G>A (p.Asp764Asn)
c.2344G>A (p.Asp782Asn)
c.1048G>A (p.Asp350Asn)
c.2050G>A (p.Asp684Asn)
c.1024G>A (p.Asp342Asn)
 dbSNP gnomAD v2 gnomAD v4
9g.110800662G>CCA5184599MUSKc.2284G>C (p.Asp762His)
c.2026G>C (p.Asp676His)
c.2260G>C (p.Asp754His)
c.1996G>C (p.Asp666His)
c.2314G>C (p.Asp772His)
c.2290G>C (p.Asp764His)
c.2344G>C (p.Asp782His)
c.1048G>C (p.Asp350His)
c.2050G>C (p.Asp684His)
c.1024G>C (p.Asp342His)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800662G=CA1872205701MUSKc.2284G= (p.Asp762=)
c.2026G= (p.Asp676=)
c.2260G= (p.Asp754=)
c.1996G= (p.Asp666=)
c.2314G= (p.Asp772=)
c.2290G= (p.Asp764=)
c.2344G= (p.Asp782=)
c.1048G= (p.Asp350=)
c.2050G= (p.Asp684=)
c.1024G= (p.Asp342=)
9g.110800662G>TCA374479031MUSKc.2284G>T (p.Asp762Tyr)
c.2026G>T (p.Asp676Tyr)
c.2260G>T (p.Asp754Tyr)
c.1996G>T (p.Asp666Tyr)
c.2314G>T (p.Asp772Tyr)
c.2290G>T (p.Asp764Tyr)
c.2344G>T (p.Asp782Tyr)
c.1048G>T (p.Asp350Tyr)
c.2050G>T (p.Asp684Tyr)
c.1024G>T (p.Asp342Tyr)
 gnomAD v4
9g.110800663A>CCA374479034MUSKc.2285A>C (p.Asp762Ala)
c.2027A>C (p.Asp676Ala)
c.2261A>C (p.Asp754Ala)
c.1997A>C (p.Asp666Ala)
c.2315A>C (p.Asp772Ala)
c.2291A>C (p.Asp764Ala)
c.2345A>C (p.Asp782Ala)
c.1049A>C (p.Asp350Ala)
c.2051A>C (p.Asp684Ala)
c.1025A>C (p.Asp342Ala)
9g.110800663A>GCA374479037MUSKc.2285A>G (p.Asp762Gly)
c.2027A>G (p.Asp676Gly)
c.2261A>G (p.Asp754Gly)
c.1997A>G (p.Asp666Gly)
c.2315A>G (p.Asp772Gly)
c.2291A>G (p.Asp764Gly)
c.2345A>G (p.Asp782Gly)
c.1049A>G (p.Asp350Gly)
c.2051A>G (p.Asp684Gly)
c.1025A>G (p.Asp342Gly)
9g.110800663A>TCA374479039MUSKc.2285A>T (p.Asp762Val)
c.2027A>T (p.Asp676Val)
c.2261A>T (p.Asp754Val)
c.1997A>T (p.Asp666Val)
c.2315A>T (p.Asp772Val)
c.2291A>T (p.Asp764Val)
c.2345A>T (p.Asp782Val)
c.1049A>T (p.Asp350Val)
c.2051A>T (p.Asp684Val)
c.1025A>T (p.Asp342Val)
9g.110800664C>ACA374479047MUSKc.2286C>A (p.Asp762Glu)
c.2028C>A (p.Asp676Glu)
c.2262C>A (p.Asp754Glu)
c.1998C>A (p.Asp666Glu)
c.2316C>A (p.Asp772Glu)
c.2292C>A (p.Asp764Glu)
c.2346C>A (p.Asp782Glu)
c.1050C>A (p.Asp350Glu)
c.2052C>A (p.Asp684Glu)
c.1026C>A (p.Asp342Glu)
9g.110800664C=CA1872205702MUSKc.2286C= (p.Asp762=)
c.2028C= (p.Asp676=)
c.2262C= (p.Asp754=)
c.1998C= (p.Asp666=)
c.2316C= (p.Asp772=)
c.2292C= (p.Asp764=)
c.2346C= (p.Asp782=)
c.1050C= (p.Asp350=)
c.2052C= (p.Asp684=)
c.1026C= (p.Asp342=)
9g.110800664C>GCA374479043MUSKc.2286C>G (p.Asp762Glu)
c.2028C>G (p.Asp676Glu)
c.2262C>G (p.Asp754Glu)
c.1998C>G (p.Asp666Glu)
c.2316C>G (p.Asp772Glu)
c.2292C>G (p.Asp764Glu)
c.2346C>G (p.Asp782Glu)
c.1050C>G (p.Asp350Glu)
c.2052C>G (p.Asp684Glu)
c.1026C>G (p.Asp342Glu)
9g.110800664C>TCA5184600MUSKc.2286C>T (p.Asp762=)
c.2028C>T (p.Asp676=)
c.2262C>T (p.Asp754=)
c.1998C>T (p.Asp666=)
c.2316C>T (p.Asp772=)
c.2292C>T (p.Asp764=)
c.2346C>T (p.Asp782=)
c.1050C>T (p.Asp350=)
c.2052C>T (p.Asp684=)
c.1026C>T (p.Asp342=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.110800665G>ACA5184601MUSKc.2287G>A (p.Ala763Thr)
c.2029G>A (p.Ala677Thr)
c.2263G>A (p.Ala755Thr)
c.1999G>A (p.Ala667Thr)
c.2317G>A (p.Ala773Thr)
c.2293G>A (p.Ala765Thr)
c.2347G>A (p.Ala783Thr)
c.1051G>A (p.Ala351Thr)
c.2053G>A (p.Ala685Thr)
c.1027G>A (p.Ala343Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800665G>CCA374479051MUSKc.2287G>C (p.Ala763Pro)
c.2029G>C (p.Ala677Pro)
c.2263G>C (p.Ala755Pro)
c.1999G>C (p.Ala667Pro)
c.2317G>C (p.Ala773Pro)
c.2293G>C (p.Ala765Pro)
c.2347G>C (p.Ala783Pro)
c.1051G>C (p.Ala351Pro)
c.2053G>C (p.Ala685Pro)
c.1027G>C (p.Ala343Pro)
9g.110800665G=CA1872205703MUSKc.2287G= (p.Ala763=)
c.2029G= (p.Ala677=)
c.2263G= (p.Ala755=)
c.1999G= (p.Ala667=)
c.2317G= (p.Ala773=)
c.2293G= (p.Ala765=)
c.2347G= (p.Ala783=)
c.1051G= (p.Ala351=)
c.2053G= (p.Ala685=)
c.1027G= (p.Ala343=)
9g.110800665G>TCA374479053MUSKc.2287G>T (p.Ala763Ser)
c.2029G>T (p.Ala677Ser)
c.2263G>T (p.Ala755Ser)
c.1999G>T (p.Ala667Ser)
c.2317G>T (p.Ala773Ser)
c.2293G>T (p.Ala765Ser)
c.2347G>T (p.Ala783Ser)
c.1051G>T (p.Ala351Ser)
c.2053G>T (p.Ala685Ser)
c.1027G>T (p.Ala343Ser)
 gnomAD v4
9g.110800666C>ACA374479059MUSKc.2288C>A (p.Ala763Asp)
c.2030C>A (p.Ala677Asp)
c.2264C>A (p.Ala755Asp)
c.2000C>A (p.Ala667Asp)
c.2318C>A (p.Ala773Asp)
c.2294C>A (p.Ala765Asp)
c.2348C>A (p.Ala783Asp)
c.1052C>A (p.Ala351Asp)
c.2054C>A (p.Ala685Asp)
c.1028C>A (p.Ala343Asp)
9g.110800666C=CA1872205704MUSKc.2288C= (p.Ala763=)
c.2030C= (p.Ala677=)
c.2264C= (p.Ala755=)
c.2000C= (p.Ala667=)
c.2318C= (p.Ala773=)
c.2294C= (p.Ala765=)
c.2348C= (p.Ala783=)
c.1052C= (p.Ala351=)
c.2054C= (p.Ala685=)
c.1028C= (p.Ala343=)
9g.110800666C>GCA374479061MUSKc.2288C>G (p.Ala763Gly)
c.2030C>G (p.Ala677Gly)
c.2264C>G (p.Ala755Gly)
c.2000C>G (p.Ala667Gly)
c.2318C>G (p.Ala773Gly)
c.2294C>G (p.Ala765Gly)
c.2348C>G (p.Ala783Gly)
c.1052C>G (p.Ala351Gly)
c.2054C>G (p.Ala685Gly)
c.1028C>G (p.Ala343Gly)
9g.110800666C>TCA5184602MUSKc.2288C>T (p.Ala763Val)
c.2030C>T (p.Ala677Val)
c.2264C>T (p.Ala755Val)
c.2000C>T (p.Ala667Val)
c.2318C>T (p.Ala773Val)
c.2294C>T (p.Ala765Val)
c.2348C>T (p.Ala783Val)
c.1052C>T (p.Ala351Val)
c.2054C>T (p.Ala685Val)
c.1028C>T (p.Ala343Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800667T>ACA466900978MUSKc.2289T>A (p.Ala763=)
c.2031T>A (p.Ala677=)
c.2265T>A (p.Ala755=)
c.2001T>A (p.Ala667=)
c.2319T>A (p.Ala773=)
c.2295T>A (p.Ala765=)
c.2349T>A (p.Ala783=)
c.1053T>A (p.Ala351=)
c.2055T>A (p.Ala685=)
c.1029T>A (p.Ala343=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.110800667T>CCA466900980MUSKc.2289T>C (p.Ala763=)
c.2031T>C (p.Ala677=)
c.2265T>C (p.Ala755=)
c.2001T>C (p.Ala667=)
c.2319T>C (p.Ala773=)
c.2295T>C (p.Ala765=)
c.2349T>C (p.Ala783=)
c.1053T>C (p.Ala351=)
c.2055T>C (p.Ala685=)
c.1029T>C (p.Ala343=)
9g.110800667T>GCA466900979MUSKc.2289T>G (p.Ala763=)
c.2031T>G (p.Ala677=)
c.2265T>G (p.Ala755=)
c.2001T>G (p.Ala667=)
c.2319T>G (p.Ala773=)
c.2295T>G (p.Ala765=)
c.2349T>G (p.Ala783=)
c.1053T>G (p.Ala351=)
c.2055T>G (p.Ala685=)
c.1029T>G (p.Ala343=)
9g.110800667T=CA1872205705MUSKc.2289T= (p.Ala763=)
c.2031T= (p.Ala677=)
c.2265T= (p.Ala755=)
c.2001T= (p.Ala667=)
c.2319T= (p.Ala773=)
c.2295T= (p.Ala765=)
c.2349T= (p.Ala783=)
c.1053T= (p.Ala351=)
c.2055T= (p.Ala685=)
c.1029T= (p.Ala343=)
9g.110800668A>CCA374479067MUSKc.2290A>C (p.Ile764Leu)
c.2032A>C (p.Ile678Leu)
c.2266A>C (p.Ile756Leu)
c.2002A>C (p.Ile668Leu)
c.2320A>C (p.Ile774Leu)
c.2296A>C (p.Ile766Leu)
c.2350A>C (p.Ile784Leu)
c.1054A>C (p.Ile352Leu)
c.2056A>C (p.Ile686Leu)
c.1030A>C (p.Ile344Leu)
 COSMIC COSMIC
9g.110800668A>GCA374479069MUSKc.2290A>G (p.Ile764Val)
c.2032A>G (p.Ile678Val)
c.2266A>G (p.Ile756Val)
c.2002A>G (p.Ile668Val)
c.2320A>G (p.Ile774Val)
c.2296A>G (p.Ile766Val)
c.2350A>G (p.Ile784Val)
c.1054A>G (p.Ile352Val)
c.2056A>G (p.Ile686Val)
c.1030A>G (p.Ile344Val)
9g.110800668A>TCA374479071MUSKc.2290A>T (p.Ile764Phe)
c.2032A>T (p.Ile678Phe)
c.2266A>T (p.Ile756Phe)
c.2002A>T (p.Ile668Phe)
c.2320A>T (p.Ile774Phe)
c.2296A>T (p.Ile766Phe)
c.2350A>T (p.Ile784Phe)
c.1054A>T (p.Ile352Phe)
c.2056A>T (p.Ile686Phe)
c.1030A>T (p.Ile344Phe)
9g.110800669T>ACA374479075MUSKc.2291T>A (p.Ile764Asn)
c.2033T>A (p.Ile678Asn)
c.2267T>A (p.Ile756Asn)
c.2003T>A (p.Ile668Asn)
c.2321T>A (p.Ile774Asn)
c.2297T>A (p.Ile766Asn)
c.2351T>A (p.Ile784Asn)
c.1055T>A (p.Ile352Asn)
c.2057T>A (p.Ile686Asn)
c.1031T>A (p.Ile344Asn)
9g.110800669T>CCA374479077MUSKc.2291T>C (p.Ile764Thr)
c.2033T>C (p.Ile678Thr)
c.2267T>C (p.Ile756Thr)
c.2003T>C (p.Ile668Thr)
c.2321T>C (p.Ile774Thr)
c.2297T>C (p.Ile766Thr)
c.2351T>C (p.Ile784Thr)
c.1055T>C (p.Ile352Thr)
c.2057T>C (p.Ile686Thr)
c.1031T>C (p.Ile344Thr)
 ClinVar dbSNP gnomAD v4
9g.110800669T>GCA374479079MUSKc.2291T>G (p.Ile764Ser)
c.2033T>G (p.Ile678Ser)
c.2267T>G (p.Ile756Ser)
c.2003T>G (p.Ile668Ser)
c.2321T>G (p.Ile774Ser)
c.2297T>G (p.Ile766Ser)
c.2351T>G (p.Ile784Ser)
c.1055T>G (p.Ile352Ser)
c.2057T>G (p.Ile686Ser)
c.1031T>G (p.Ile344Ser)
9g.110800669T=CA1872205707MUSKc.2291T= (p.Ile764=)
c.2033T= (p.Ile678=)
c.2267T= (p.Ile756=)
c.2003T= (p.Ile668=)
c.2321T= (p.Ile774=)
c.2297T= (p.Ile766=)
c.2351T= (p.Ile784=)
c.1055T= (p.Ile352=)
c.2057T= (p.Ile686=)
c.1031T= (p.Ile344=)
9g.110800669_110800671delinsTCCCA1872205708MUSKc.2291_2293delinsTCC (p.Ile764=)
c.2033_2035delinsTCC (p.Ile678=)
c.2267_2269delinsTCC (p.Ile756=)
c.2003_2005delinsTCC (p.Ile668=)
c.2321_2323delinsTCC (p.Ile774=)
c.2297_2299delinsTCC (p.Ile766=)
c.2351_2353delinsTCC (p.Ile784=)
c.1055_1057delinsTCC (p.Ile352=)
c.2057_2059delinsTCC (p.Ile686=)
c.1031_1033delinsTCC (p.Ile344=)
9g.110800669_110800676delinsTCCCTATCCA1872205706MUSKc.2291_2298delinsTCCCTATC (p.Ile764=)
c.2033_2040delinsTCCCTATC (p.Ile678=)
c.2267_2274delinsTCCCTATC (p.Ile756=)
c.2003_2010delinsTCCCTATC (p.Ile668=)
c.2321_2328delinsTCCCTATC (p.Ile774=)
c.2297_2304delinsTCCCTATC (p.Ile766=)
c.2351_2358delinsTCCCTATC (p.Ile784=)
c.1055_1062delinsTCCCTATC (p.Ile352=)
c.2057_2064delinsTCCCTATC (p.Ile686=)
c.1031_1038delinsTCCCTATC (p.Ile344=)
9g.110800670C>ACA5184604MUSKc.2292C>A (p.Ile764=)
c.2034C>A (p.Ile678=)
c.2268C>A (p.Ile756=)
c.2004C>A (p.Ile668=)
c.2322C>A (p.Ile774=)
c.2298C>A (p.Ile766=)
c.2352C>A (p.Ile784=)
c.1056C>A (p.Ile352=)
c.2058C>A (p.Ile686=)
c.1032C>A (p.Ile344=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800670C=CA1872205710MUSKc.2292C= (p.Ile764=)
c.2034C= (p.Ile678=)
c.2268C= (p.Ile756=)
c.2004C= (p.Ile668=)
c.2322C= (p.Ile774=)
c.2298C= (p.Ile766=)
c.2352C= (p.Ile784=)
c.1056C= (p.Ile352=)
c.2058C= (p.Ile686=)
c.1032C= (p.Ile344=)
9g.110800670C>GCA374479084MUSKc.2292C>G (p.Ile764Met)
c.2034C>G (p.Ile678Met)
c.2268C>G (p.Ile756Met)
c.2004C>G (p.Ile668Met)
c.2322C>G (p.Ile774Met)
c.2298C>G (p.Ile766Met)
c.2352C>G (p.Ile784Met)
c.1056C>G (p.Ile352Met)
c.2058C>G (p.Ile686Met)
c.1032C>G (p.Ile344Met)
 gnomAD v4
9g.110800670C>TCA466900984MUSKc.2292C>T (p.Ile764=)
c.2034C>T (p.Ile678=)
c.2268C>T (p.Ile756=)
c.2004C>T (p.Ile668=)
c.2322C>T (p.Ile774=)
c.2298C>T (p.Ile766=)
c.2352C>T (p.Ile784=)
c.1056C>T (p.Ile352=)
c.2058C>T (p.Ile686=)
c.1032C>T (p.Ile344=)
 ClinVar dbSNP
9g.110800671_110800672delCA1872205709MUSKc.2293_2294del (p.Pro765TyrfsTer12)
c.2035_2036del (p.Pro679TyrfsTer12)
c.2269_2270del (p.Pro757TyrfsTer12)
c.2005_2006del (p.Pro669TyrfsTer12)
c.2323_2324del (p.Pro775TyrfsTer12)
c.2299_2300del (p.Pro767TyrfsTer12)
c.2353_2354del (p.Pro785TyrfsTer12)
c.1057_1058del (p.Pro353TyrfsTer12)
c.2059_2060del (p.Pro687TyrfsTer12)
c.1033_1034del (p.Pro345TyrfsTer12)
 dbSNP
9g.110800671_110800677delCA5184603MUSKc.2293_2299del (p.Pro765ValfsTer?)
c.2035_2041del (p.Pro679ValfsTer?)
c.2269_2275del (p.Pro757ValfsTer?)
c.2005_2011del (p.Pro669ValfsTer?)
c.2323_2329del (p.Pro775ValfsTer?)
c.2299_2305del (p.Pro767ValfsTer?)
c.2353_2359del (p.Pro785ValfsTer?)
c.1057_1063del (p.Pro353ValfsTer?)
c.2059_2065del (p.Pro687ValfsTer?)
c.1033_1039del (p.Pro345ValfsTer?)
 dbSNP ExAC gnomAD v2
9g.110800671C>ACA374479092MUSKc.2293C>A (p.Pro765Thr)
c.2035C>A (p.Pro679Thr)
c.2269C>A (p.Pro757Thr)
c.2005C>A (p.Pro669Thr)
c.2323C>A (p.Pro775Thr)
c.2299C>A (p.Pro767Thr)
c.2353C>A (p.Pro785Thr)
c.1057C>A (p.Pro353Thr)
c.2059C>A (p.Pro687Thr)
c.1033C>A (p.Pro345Thr)
9g.110800671C=CA1872205711MUSKc.2293C= (p.Pro765=)
c.2035C= (p.Pro679=)
c.2269C= (p.Pro757=)
c.2005C= (p.Pro669=)
c.2323C= (p.Pro775=)
c.2299C= (p.Pro767=)
c.2353C= (p.Pro785=)
c.1057C= (p.Pro353=)
c.2059C= (p.Pro687=)
c.1033C= (p.Pro345=)
9g.110800671C>GCA374479086MUSKc.2293C>G (p.Pro765Ala)
c.2035C>G (p.Pro679Ala)
c.2269C>G (p.Pro757Ala)
c.2005C>G (p.Pro669Ala)
c.2323C>G (p.Pro775Ala)
c.2299C>G (p.Pro767Ala)
c.2353C>G (p.Pro785Ala)
c.1057C>G (p.Pro353Ala)
c.2059C>G (p.Pro687Ala)
c.1033C>G (p.Pro345Ala)
 dbSNP
9g.110800671C>TCA374479087MUSKc.2293C>T (p.Pro765Ser)
c.2035C>T (p.Pro679Ser)
c.2269C>T (p.Pro757Ser)
c.2005C>T (p.Pro669Ser)
c.2323C>T (p.Pro775Ser)
c.2299C>T (p.Pro767Ser)
c.2353C>T (p.Pro785Ser)
c.1057C>T (p.Pro353Ser)
c.2059C>T (p.Pro687Ser)
c.1033C>T (p.Pro345Ser)
 dbSNP gnomAD v3 gnomAD v4
9g.110800672C>ACA374479094MUSKc.2294C>A (p.Pro765His)
c.2036C>A (p.Pro679His)
c.2270C>A (p.Pro757His)
c.2006C>A (p.Pro669His)
c.2324C>A (p.Pro775His)
c.2300C>A (p.Pro767His)
c.2354C>A (p.Pro785His)
c.1058C>A (p.Pro353His)
c.2060C>A (p.Pro687His)
c.1034C>A (p.Pro345His)
9g.110800672C>GCA374479096MUSKc.2294C>G (p.Pro765Arg)
c.2036C>G (p.Pro679Arg)
c.2270C>G (p.Pro757Arg)
c.2006C>G (p.Pro669Arg)
c.2324C>G (p.Pro775Arg)
c.2300C>G (p.Pro767Arg)
c.2354C>G (p.Pro785Arg)
c.1058C>G (p.Pro353Arg)
c.2060C>G (p.Pro687Arg)
c.1034C>G (p.Pro345Arg)
 COSMIC COSMIC
9g.110800672C>TCA374479098MUSKc.2294C>T (p.Pro765Leu)
c.2036C>T (p.Pro679Leu)
c.2270C>T (p.Pro757Leu)
c.2006C>T (p.Pro669Leu)
c.2324C>T (p.Pro775Leu)
c.2300C>T (p.Pro767Leu)
c.2354C>T (p.Pro785Leu)
c.1058C>T (p.Pro353Leu)
c.2060C>T (p.Pro687Leu)
c.1034C>T (p.Pro345Leu)
9g.110800673T>ACA466900986MUSKc.2295T>A (p.Pro765=)
c.2037T>A (p.Pro679=)
c.2271T>A (p.Pro757=)
c.2007T>A (p.Pro669=)
c.2325T>A (p.Pro775=)
c.2301T>A (p.Pro767=)
c.2355T>A (p.Pro785=)
c.1059T>A (p.Pro353=)
c.2061T>A (p.Pro687=)
c.1035T>A (p.Pro345=)
 dbSNP
9g.110800673T>CCA466900987MUSKc.2295T>C (p.Pro765=)
c.2037T>C (p.Pro679=)
c.2271T>C (p.Pro757=)
c.2007T>C (p.Pro669=)
c.2325T>C (p.Pro775=)
c.2301T>C (p.Pro767=)
c.2355T>C (p.Pro785=)
c.1059T>C (p.Pro353=)
c.2061T>C (p.Pro687=)
c.1035T>C (p.Pro345=)
9g.110800673T>GCA466900988MUSKc.2295T>G (p.Pro765=)
c.2037T>G (p.Pro679=)
c.2271T>G (p.Pro757=)
c.2007T>G (p.Pro669=)
c.2325T>G (p.Pro775=)
c.2301T>G (p.Pro767=)
c.2355T>G (p.Pro785=)
c.1059T>G (p.Pro353=)
c.2061T>G (p.Pro687=)
c.1035T>G (p.Pro345=)
9g.110800673T=CA1872205712MUSKc.2295T= (p.Pro765=)
c.2037T= (p.Pro679=)
c.2271T= (p.Pro757=)
c.2007T= (p.Pro669=)
c.2325T= (p.Pro775=)
c.2301T= (p.Pro767=)
c.2355T= (p.Pro785=)
c.1059T= (p.Pro353=)
c.2061T= (p.Pro687=)
c.1035T= (p.Pro345=)
9g.110800674A=CA1872205713MUSKc.2296A= (p.Ile766=)
c.2038A= (p.Ile680=)
c.2272A= (p.Ile758=)
c.2008A= (p.Ile670=)
c.2326A= (p.Ile776=)
c.2302A= (p.Ile768=)
c.2356A= (p.Ile786=)
c.1060A= (p.Ile354=)
c.2062A= (p.Ile688=)
c.1036A= (p.Ile346=)
9g.110800674A>CCA374479101MUSKc.2296A>C (p.Ile766Leu)
c.2038A>C (p.Ile680Leu)
c.2272A>C (p.Ile758Leu)
c.2008A>C (p.Ile670Leu)
c.2326A>C (p.Ile776Leu)
c.2302A>C (p.Ile768Leu)
c.2356A>C (p.Ile786Leu)
c.1060A>C (p.Ile354Leu)
c.2062A>C (p.Ile688Leu)
c.1036A>C (p.Ile346Leu)
9g.110800674A>GCA374479104MUSKc.2296A>G (p.Ile766Val)
c.2038A>G (p.Ile680Val)
c.2272A>G (p.Ile758Val)
c.2008A>G (p.Ile670Val)
c.2326A>G (p.Ile776Val)
c.2302A>G (p.Ile768Val)
c.2356A>G (p.Ile786Val)
c.1060A>G (p.Ile354Val)
c.2062A>G (p.Ile688Val)
c.1036A>G (p.Ile346Val)
 dbSNP
9g.110800674A>TCA374479106MUSKc.2296A>T (p.Ile766Phe)
c.2038A>T (p.Ile680Phe)
c.2272A>T (p.Ile758Phe)
c.2008A>T (p.Ile670Phe)
c.2326A>T (p.Ile776Phe)
c.2302A>T (p.Ile768Phe)
c.2356A>T (p.Ile786Phe)
c.1060A>T (p.Ile354Phe)
c.2062A>T (p.Ile688Phe)
c.1036A>T (p.Ile346Phe)
9g.110800675T>ACA374479109MUSKc.2297T>A (p.Ile766Asn)
c.2039T>A (p.Ile680Asn)
c.2273T>A (p.Ile758Asn)
c.2009T>A (p.Ile670Asn)
c.2327T>A (p.Ile776Asn)
c.2303T>A (p.Ile768Asn)
c.2357T>A (p.Ile786Asn)
c.1061T>A (p.Ile354Asn)
c.2063T>A (p.Ile688Asn)
c.1037T>A (p.Ile346Asn)
9g.110800675T>CCA198363672MUSKc.2297T>C (p.Ile766Thr)
c.2039T>C (p.Ile680Thr)
c.2273T>C (p.Ile758Thr)
c.2009T>C (p.Ile670Thr)
c.2327T>C (p.Ile776Thr)
c.2303T>C (p.Ile768Thr)
c.2357T>C (p.Ile786Thr)
c.1061T>C (p.Ile354Thr)
c.2063T>C (p.Ile688Thr)
c.1037T>C (p.Ile346Thr)
 dbSNP
9g.110800675T>GCA374479113MUSKc.2297T>G (p.Ile766Ser)
c.2039T>G (p.Ile680Ser)
c.2273T>G (p.Ile758Ser)
c.2009T>G (p.Ile670Ser)
c.2327T>G (p.Ile776Ser)
c.2303T>G (p.Ile768Ser)
c.2357T>G (p.Ile786Ser)
c.1061T>G (p.Ile354Ser)
c.2063T>G (p.Ile688Ser)
c.1037T>G (p.Ile346Ser)
 dbSNP
9g.110800675T=CA1872205714MUSKc.2297T= (p.Ile766=)
c.2039T= (p.Ile680=)
c.2273T= (p.Ile758=)
c.2009T= (p.Ile670=)
c.2327T= (p.Ile776=)
c.2303T= (p.Ile768=)
c.2357T= (p.Ile786=)
c.1061T= (p.Ile354=)
c.2063T= (p.Ile688=)
c.1037T= (p.Ile346=)
9g.110800676C>ACA466900993MUSKc.2298C>A (p.Ile766=)
c.2040C>A (p.Ile680=)
c.2274C>A (p.Ile758=)
c.2010C>A (p.Ile670=)
c.2328C>A (p.Ile776=)
c.2304C>A (p.Ile768=)
c.2358C>A (p.Ile786=)
c.1062C>A (p.Ile354=)
c.2064C>A (p.Ile688=)
c.1038C>A (p.Ile346=)
9g.110800676C=CA1872205715MUSKc.2298C= (p.Ile766=)
c.2040C= (p.Ile680=)
c.2274C= (p.Ile758=)
c.2010C= (p.Ile670=)
c.2328C= (p.Ile776=)
c.2304C= (p.Ile768=)
c.2358C= (p.Ile786=)
c.1062C= (p.Ile354=)
c.2064C= (p.Ile688=)
c.1038C= (p.Ile346=)
9g.110800676C>GCA374479116MUSKc.2298C>G (p.Ile766Met)
c.2040C>G (p.Ile680Met)
c.2274C>G (p.Ile758Met)
c.2010C>G (p.Ile670Met)
c.2328C>G (p.Ile776Met)
c.2304C>G (p.Ile768Met)
c.2358C>G (p.Ile786Met)
c.1062C>G (p.Ile354Met)
c.2064C>G (p.Ile688Met)
c.1038C>G (p.Ile346Met)
9g.110800676C>TCA466900992MUSKc.2298C>T (p.Ile766=)
c.2040C>T (p.Ile680=)
c.2274C>T (p.Ile758=)
c.2010C>T (p.Ile670=)
c.2328C>T (p.Ile776=)
c.2304C>T (p.Ile768=)
c.2358C>T (p.Ile786=)
c.1062C>T (p.Ile354=)
c.2064C>T (p.Ile688=)
c.1038C>T (p.Ile346=)
 dbSNP
9g.110800677C>ACA374479120MUSKc.2299C>A (p.Arg767Ser)
c.2041C>A (p.Arg681Ser)
c.2275C>A (p.Arg759Ser)
c.2011C>A (p.Arg671Ser)
c.2329C>A (p.Arg777Ser)
c.2305C>A (p.Arg769Ser)
c.2359C>A (p.Arg787Ser)
c.1063C>A (p.Arg355Ser)
c.2065C>A (p.Arg689Ser)
c.1039C>A (p.Arg347Ser)
 gnomAD v4
9g.110800677C=CA1872205716MUSKc.2299C= (p.Arg767=)
c.2041C= (p.Arg681=)
c.2275C= (p.Arg759=)
c.2011C= (p.Arg671=)
c.2329C= (p.Arg777=)
c.2305C= (p.Arg769=)
c.2359C= (p.Arg787=)
c.1063C= (p.Arg355=)
c.2065C= (p.Arg689=)
c.1039C= (p.Arg347=)
9g.110800677C>GCA374479124MUSKc.2299C>G (p.Arg767Gly)
c.2041C>G (p.Arg681Gly)
c.2275C>G (p.Arg759Gly)
c.2011C>G (p.Arg671Gly)
c.2329C>G (p.Arg777Gly)
c.2305C>G (p.Arg769Gly)
c.2359C>G (p.Arg787Gly)
c.1063C>G (p.Arg355Gly)
c.2065C>G (p.Arg689Gly)
c.1039C>G (p.Arg347Gly)
 dbSNP
9g.110800677C>TCA374479117MUSKc.2299C>T (p.Arg767Cys)
c.2041C>T (p.Arg681Cys)
c.2275C>T (p.Arg759Cys)
c.2011C>T (p.Arg671Cys)
c.2329C>T (p.Arg777Cys)
c.2305C>T (p.Arg769Cys)
c.2359C>T (p.Arg787Cys)
c.1063C>T (p.Arg355Cys)
c.2065C>T (p.Arg689Cys)
c.1039C>T (p.Arg347Cys)
 dbSNP gnomAD v2 gnomAD v4
9g.110800677_110800678insTGGTGCA5184605MUSKc.2299_2300insTGGTG (p.Arg767LeufsTer?)
c.2041_2042insTGGTG (p.Arg681LeufsTer?)
c.2275_2276insTGGTG (p.Arg759LeufsTer?)
c.2011_2012insTGGTG (p.Arg671LeufsTer?)
c.2329_2330insTGGTG (p.Arg777LeufsTer?)
c.2305_2306insTGGTG (p.Arg769LeufsTer?)
c.2359_2360insTGGTG (p.Arg787LeufsTer?)
c.1063_1064insTGGTG (p.Arg355LeufsTer?)
c.2065_2066insTGGTG (p.Arg689LeufsTer?)
c.1039_1040insTGGTG (p.Arg347LeufsTer?)
 dbSNP ExAC gnomAD v2
9g.110800678G>ACA5184606MUSKc.2300G>A (p.Arg767His)
c.2042G>A (p.Arg681His)
c.2276G>A (p.Arg759His)
c.2012G>A (p.Arg671His)
c.2330G>A (p.Arg777His)
c.2306G>A (p.Arg769His)
c.2360G>A (p.Arg787His)
c.1064G>A (p.Arg355His)
c.2066G>A (p.Arg689His)
c.1040G>A (p.Arg347His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800678G>CCA374479129MUSKc.2300G>C (p.Arg767Pro)
c.2042G>C (p.Arg681Pro)
c.2276G>C (p.Arg759Pro)
c.2012G>C (p.Arg671Pro)
c.2330G>C (p.Arg777Pro)
c.2306G>C (p.Arg769Pro)
c.2360G>C (p.Arg787Pro)
c.1064G>C (p.Arg355Pro)
c.2066G>C (p.Arg689Pro)
c.1040G>C (p.Arg347Pro)
9g.110800678G=CA1872205717MUSKc.2300G= (p.Arg767=)
c.2042G= (p.Arg681=)
c.2276G= (p.Arg759=)
c.2012G= (p.Arg671=)
c.2330G= (p.Arg777=)
c.2306G= (p.Arg769=)
c.2360G= (p.Arg787=)
c.1064G= (p.Arg355=)
c.2066G= (p.Arg689=)
c.1040G= (p.Arg347=)
9g.110800678G>TCA374479131MUSKc.2300G>T (p.Arg767Leu)
c.2042G>T (p.Arg681Leu)
c.2276G>T (p.Arg759Leu)
c.2012G>T (p.Arg671Leu)
c.2330G>T (p.Arg777Leu)
c.2306G>T (p.Arg769Leu)
c.2360G>T (p.Arg787Leu)
c.1064G>T (p.Arg355Leu)
c.2066G>T (p.Arg689Leu)
c.1040G>T (p.Arg347Leu)
 gnomAD v4
9g.110800679T>ACA466900999MUSKc.2301T>A (p.Arg767=)
c.2043T>A (p.Arg681=)
c.2277T>A (p.Arg759=)
c.2013T>A (p.Arg671=)
c.2331T>A (p.Arg777=)
c.2307T>A (p.Arg769=)
c.2361T>A (p.Arg787=)
c.1065T>A (p.Arg355=)
c.2067T>A (p.Arg689=)
c.1041T>A (p.Arg347=)
9g.110800679T>CCA466901000MUSKc.2301T>C (p.Arg767=)
c.2043T>C (p.Arg681=)
c.2277T>C (p.Arg759=)
c.2013T>C (p.Arg671=)
c.2331T>C (p.Arg777=)
c.2307T>C (p.Arg769=)
c.2361T>C (p.Arg787=)
c.1065T>C (p.Arg355=)
c.2067T>C (p.Arg689=)
c.1041T>C (p.Arg347=)
 dbSNP gnomAD v2 gnomAD v4
9g.110800679T>GCA466901001MUSKc.2301T>G (p.Arg767=)
c.2043T>G (p.Arg681=)
c.2277T>G (p.Arg759=)
c.2013T>G (p.Arg671=)
c.2331T>G (p.Arg777=)
c.2307T>G (p.Arg769=)
c.2361T>G (p.Arg787=)
c.1065T>G (p.Arg355=)
c.2067T>G (p.Arg689=)
c.1041T>G (p.Arg347=)
9g.110800679T=CA1872205718MUSKc.2301T= (p.Arg767=)
c.2043T= (p.Arg681=)
c.2277T= (p.Arg759=)
c.2013T= (p.Arg671=)
c.2331T= (p.Arg777=)
c.2307T= (p.Arg769=)
c.2361T= (p.Arg787=)
c.1065T= (p.Arg355=)
c.2067T= (p.Arg689=)
c.1041T= (p.Arg347=)
9g.110800680T>ACA374479139MUSKc.2302T>A (p.Trp768Arg)
c.2044T>A (p.Trp682Arg)
c.2278T>A (p.Trp760Arg)
c.2014T>A (p.Trp672Arg)
c.2332T>A (p.Trp778Arg)
c.2308T>A (p.Trp770Arg)
c.2362T>A (p.Trp788Arg)
c.1066T>A (p.Trp356Arg)
c.2068T>A (p.Trp690Arg)
c.1042T>A (p.Trp348Arg)
9g.110800680T>CCA374479137MUSKc.2302T>C (p.Trp768Arg)
c.2044T>C (p.Trp682Arg)
c.2278T>C (p.Trp760Arg)
c.2014T>C (p.Trp672Arg)
c.2332T>C (p.Trp778Arg)
c.2308T>C (p.Trp770Arg)
c.2362T>C (p.Trp788Arg)
c.1066T>C (p.Trp356Arg)
c.2068T>C (p.Trp690Arg)
c.1042T>C (p.Trp348Arg)
 gnomAD v4
9g.110800680T>GCA374479134MUSKc.2302T>G (p.Trp768Gly)
c.2044T>G (p.Trp682Gly)
c.2278T>G (p.Trp760Gly)
c.2014T>G (p.Trp672Gly)
c.2332T>G (p.Trp778Gly)
c.2308T>G (p.Trp770Gly)
c.2362T>G (p.Trp788Gly)
c.1066T>G (p.Trp356Gly)
c.2068T>G (p.Trp690Gly)
c.1042T>G (p.Trp348Gly)
9g.110800681G>ACA374479142MUSKc.2303G>A (p.Trp768Ter)
c.2045G>A (p.Trp682Ter)
c.2279G>A (p.Trp760Ter)
c.2015G>A (p.Trp672Ter)
c.2333G>A (p.Trp778Ter)
c.2309G>A (p.Trp770Ter)
c.2363G>A (p.Trp788Ter)
c.1067G>A (p.Trp356Ter)
c.2069G>A (p.Trp690Ter)
c.1043G>A (p.Trp348Ter)
9g.110800681G>CCA374479145MUSKc.2303G>C (p.Trp768Ser)
c.2045G>C (p.Trp682Ser)
c.2279G>C (p.Trp760Ser)
c.2015G>C (p.Trp672Ser)
c.2333G>C (p.Trp778Ser)
c.2309G>C (p.Trp770Ser)
c.2363G>C (p.Trp788Ser)
c.1067G>C (p.Trp356Ser)
c.2069G>C (p.Trp690Ser)
c.1043G>C (p.Trp348Ser)
9g.110800681G>TCA374479147MUSKc.2303G>T (p.Trp768Leu)
c.2045G>T (p.Trp682Leu)
c.2279G>T (p.Trp760Leu)
c.2015G>T (p.Trp672Leu)
c.2333G>T (p.Trp778Leu)
c.2309G>T (p.Trp770Leu)
c.2363G>T (p.Trp788Leu)
c.1067G>T (p.Trp356Leu)
c.2069G>T (p.Trp690Leu)
c.1043G>T (p.Trp348Leu)
9g.110800682G>ACA374479151MUSKc.2304G>A (p.Trp768Ter)
c.2046G>A (p.Trp682Ter)
c.2280G>A (p.Trp760Ter)
c.2016G>A (p.Trp672Ter)
c.2334G>A (p.Trp778Ter)
c.2310G>A (p.Trp770Ter)
c.2364G>A (p.Trp788Ter)
c.1068G>A (p.Trp356Ter)
c.2070G>A (p.Trp690Ter)
c.1044G>A (p.Trp348Ter)
9g.110800682G>CCA374479152MUSKc.2304G>C (p.Trp768Cys)
c.2046G>C (p.Trp682Cys)
c.2280G>C (p.Trp760Cys)
c.2016G>C (p.Trp672Cys)
c.2334G>C (p.Trp778Cys)
c.2310G>C (p.Trp770Cys)
c.2364G>C (p.Trp788Cys)
c.1068G>C (p.Trp356Cys)
c.2070G>C (p.Trp690Cys)
c.1044G>C (p.Trp348Cys)
9g.110800682G>TCA374479154MUSKc.2304G>T (p.Trp768Cys)
c.2046G>T (p.Trp682Cys)
c.2280G>T (p.Trp760Cys)
c.2016G>T (p.Trp672Cys)
c.2334G>T (p.Trp778Cys)
c.2310G>T (p.Trp770Cys)
c.2364G>T (p.Trp788Cys)
c.1068G>T (p.Trp356Cys)
c.2070G>T (p.Trp690Cys)
c.1044G>T (p.Trp348Cys)
9g.110800683A=CA1872205719MUSKc.2305A= (p.Met769=)
c.2047A= (p.Met683=)
c.2281A= (p.Met761=)
c.2017A= (p.Met673=)
c.2335A= (p.Met779=)
c.2311A= (p.Met771=)
c.2365A= (p.Met789=)
c.1069A= (p.Met357=)
c.2071A= (p.Met691=)
c.1045A= (p.Met349=)
9g.110800683A>CCA374479159MUSKc.2305A>C (p.Met769Leu)
c.2047A>C (p.Met683Leu)
c.2281A>C (p.Met761Leu)
c.2017A>C (p.Met673Leu)
c.2335A>C (p.Met779Leu)
c.2311A>C (p.Met771Leu)
c.2365A>C (p.Met789Leu)
c.1069A>C (p.Met357Leu)
c.2071A>C (p.Met691Leu)
c.1045A>C (p.Met349Leu)
9g.110800683A>GCA374479158MUSKc.2305A>G (p.Met769Val)
c.2047A>G (p.Met683Val)
c.2281A>G (p.Met761Val)
c.2017A>G (p.Met673Val)
c.2335A>G (p.Met779Val)
c.2311A>G (p.Met771Val)
c.2365A>G (p.Met789Val)
c.1069A>G (p.Met357Val)
c.2071A>G (p.Met691Val)
c.1045A>G (p.Met349Val)
9g.110800683A>TCA374479157MUSKc.2305A>T (p.Met769Leu)
c.2047A>T (p.Met683Leu)
c.2281A>T (p.Met761Leu)
c.2017A>T (p.Met673Leu)
c.2335A>T (p.Met779Leu)
c.2311A>T (p.Met771Leu)
c.2365A>T (p.Met789Leu)
c.1069A>T (p.Met357Leu)
c.2071A>T (p.Met691Leu)
c.1045A>T (p.Met349Leu)
 dbSNP
9g.110800684T>ACA5184607MUSKc.2306T>A (p.Met769Lys)
c.2048T>A (p.Met683Lys)
c.2282T>A (p.Met761Lys)
c.2018T>A (p.Met673Lys)
c.2336T>A (p.Met779Lys)
c.2312T>A (p.Met771Lys)
c.2366T>A (p.Met789Lys)
c.1070T>A (p.Met357Lys)
c.2072T>A (p.Met691Lys)
c.1046T>A (p.Met349Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800684T>CCA374479163MUSKc.2306T>C (p.Met769Thr)
c.2048T>C (p.Met683Thr)
c.2282T>C (p.Met761Thr)
c.2018T>C (p.Met673Thr)
c.2336T>C (p.Met779Thr)
c.2312T>C (p.Met771Thr)
c.2366T>C (p.Met789Thr)
c.1070T>C (p.Met357Thr)
c.2072T>C (p.Met691Thr)
c.1046T>C (p.Met349Thr)
9g.110800684T>GCA374479165MUSKc.2306T>G (p.Met769Arg)
c.2048T>G (p.Met683Arg)
c.2282T>G (p.Met761Arg)
c.2018T>G (p.Met673Arg)
c.2336T>G (p.Met779Arg)
c.2312T>G (p.Met771Arg)
c.2366T>G (p.Met789Arg)
c.1070T>G (p.Met357Arg)
c.2072T>G (p.Met691Arg)
c.1046T>G (p.Met349Arg)
9g.110800684T=CA1872205720MUSKc.2306T= (p.Met769=)
c.2048T= (p.Met683=)
c.2282T= (p.Met761=)
c.2018T= (p.Met673=)
c.2336T= (p.Met779=)
c.2312T= (p.Met771=)
c.2366T= (p.Met789=)
c.1070T= (p.Met357=)
c.2072T= (p.Met691=)
c.1046T= (p.Met349=)
9g.110800685G>ACA374479167MUSKc.2307G>A (p.Met769Ile)
c.2049G>A (p.Met683Ile)
c.2283G>A (p.Met761Ile)
c.2019G>A (p.Met673Ile)
c.2337G>A (p.Met779Ile)
c.2313G>A (p.Met771Ile)
c.2367G>A (p.Met789Ile)
c.1071G>A (p.Met357Ile)
c.2073G>A (p.Met691Ile)
c.1047G>A (p.Met349Ile)
9g.110800685G>CCA374479170MUSKc.2307G>C (p.Met769Ile)
c.2049G>C (p.Met683Ile)
c.2283G>C (p.Met761Ile)
c.2019G>C (p.Met673Ile)
c.2337G>C (p.Met779Ile)
c.2313G>C (p.Met771Ile)
c.2367G>C (p.Met789Ile)
c.1071G>C (p.Met357Ile)
c.2073G>C (p.Met691Ile)
c.1047G>C (p.Met349Ile)
9g.110800685G>TCA374479173MUSKc.2307G>T (p.Met769Ile)
c.2049G>T (p.Met683Ile)
c.2283G>T (p.Met761Ile)
c.2019G>T (p.Met673Ile)
c.2337G>T (p.Met779Ile)
c.2313G>T (p.Met771Ile)
c.2367G>T (p.Met789Ile)
c.1071G>T (p.Met357Ile)
c.2073G>T (p.Met691Ile)
c.1047G>T (p.Met349Ile)
9g.110800686C>ACA374479180MUSKc.2308C>A (p.Pro770Thr)
c.2050C>A (p.Pro684Thr)
c.2284C>A (p.Pro762Thr)
c.2020C>A (p.Pro674Thr)
c.2338C>A (p.Pro780Thr)
c.2314C>A (p.Pro772Thr)
c.2368C>A (p.Pro790Thr)
c.1072C>A (p.Pro358Thr)
c.2074C>A (p.Pro692Thr)
c.1048C>A (p.Pro350Thr)
9g.110800686C>GCA374479178MUSKc.2308C>G (p.Pro770Ala)
c.2050C>G (p.Pro684Ala)
c.2284C>G (p.Pro762Ala)
c.2020C>G (p.Pro674Ala)
c.2338C>G (p.Pro780Ala)
c.2314C>G (p.Pro772Ala)
c.2368C>G (p.Pro790Ala)
c.1072C>G (p.Pro358Ala)
c.2074C>G (p.Pro692Ala)
c.1048C>G (p.Pro350Ala)
9g.110800686C>TCA374479175MUSKc.2308C>T (p.Pro770Ser)
c.2050C>T (p.Pro684Ser)
c.2284C>T (p.Pro762Ser)
c.2020C>T (p.Pro674Ser)
c.2338C>T (p.Pro780Ser)
c.2314C>T (p.Pro772Ser)
c.2368C>T (p.Pro790Ser)
c.1072C>T (p.Pro358Ser)
c.2074C>T (p.Pro692Ser)
c.1048C>T (p.Pro350Ser)
9g.110800687C>ACA374479183MUSKc.2309C>A (p.Pro770Gln)
c.2051C>A (p.Pro684Gln)
c.2285C>A (p.Pro762Gln)
c.2021C>A (p.Pro674Gln)
c.2339C>A (p.Pro780Gln)
c.2315C>A (p.Pro772Gln)
c.2369C>A (p.Pro790Gln)
c.1073C>A (p.Pro358Gln)
c.2075C>A (p.Pro692Gln)
c.1049C>A (p.Pro350Gln)
9g.110800687C>GCA374479186MUSKc.2309C>G (p.Pro770Arg)
c.2051C>G (p.Pro684Arg)
c.2285C>G (p.Pro762Arg)
c.2021C>G (p.Pro674Arg)
c.2339C>G (p.Pro780Arg)
c.2315C>G (p.Pro772Arg)
c.2369C>G (p.Pro790Arg)
c.1073C>G (p.Pro358Arg)
c.2075C>G (p.Pro692Arg)
c.1049C>G (p.Pro350Arg)
9g.110800687C>TCA374479188MUSKc.2309C>T (p.Pro770Leu)
c.2051C>T (p.Pro684Leu)
c.2285C>T (p.Pro762Leu)
c.2021C>T (p.Pro674Leu)
c.2339C>T (p.Pro780Leu)
c.2315C>T (p.Pro772Leu)
c.2369C>T (p.Pro790Leu)
c.1073C>T (p.Pro358Leu)
c.2075C>T (p.Pro692Leu)
c.1049C>T (p.Pro350Leu)
9g.110800688A>CCA466901012MUSKc.2310A>C (p.Pro770=)
c.2052A>C (p.Pro684=)
c.2286A>C (p.Pro762=)
c.2022A>C (p.Pro674=)
c.2340A>C (p.Pro780=)
c.2316A>C (p.Pro772=)
c.2370A>C (p.Pro790=)
c.1074A>C (p.Pro358=)
c.2076A>C (p.Pro692=)
c.1050A>C (p.Pro350=)
 COSMIC COSMIC
9g.110800688A>GCA466901013MUSKc.2310A>G (p.Pro770=)
c.2052A>G (p.Pro684=)
c.2286A>G (p.Pro762=)
c.2022A>G (p.Pro674=)
c.2340A>G (p.Pro780=)
c.2316A>G (p.Pro772=)
c.2370A>G (p.Pro790=)
c.1074A>G (p.Pro358=)
c.2076A>G (p.Pro692=)
c.1050A>G (p.Pro350=)
9g.110800688A>TCA466901014MUSKc.2310A>T (p.Pro770=)
c.2052A>T (p.Pro684=)
c.2286A>T (p.Pro762=)
c.2022A>T (p.Pro674=)
c.2340A>T (p.Pro780=)
c.2316A>T (p.Pro772=)
c.2370A>T (p.Pro790=)
c.1074A>T (p.Pro358=)
c.2076A>T (p.Pro692=)
c.1050A>T (p.Pro350=)
9g.110800689C>ACA374479190MUSKc.2311C>A (p.Pro771Thr)
c.2053C>A (p.Pro685Thr)
c.2287C>A (p.Pro763Thr)
c.2023C>A (p.Pro675Thr)
c.2341C>A (p.Pro781Thr)
c.2317C>A (p.Pro773Thr)
c.2371C>A (p.Pro791Thr)
c.1075C>A (p.Pro359Thr)
c.2077C>A (p.Pro693Thr)
c.1051C>A (p.Pro351Thr)
9g.110800689C>GCA374479193MUSKc.2311C>G (p.Pro771Ala)
c.2053C>G (p.Pro685Ala)
c.2287C>G (p.Pro763Ala)
c.2023C>G (p.Pro675Ala)
c.2341C>G (p.Pro781Ala)
c.2317C>G (p.Pro773Ala)
c.2371C>G (p.Pro791Ala)
c.1075C>G (p.Pro359Ala)
c.2077C>G (p.Pro693Ala)
c.1051C>G (p.Pro351Ala)
9g.110800689C>TCA374479195MUSKc.2311C>T (p.Pro771Ser)
c.2053C>T (p.Pro685Ser)
c.2287C>T (p.Pro763Ser)
c.2023C>T (p.Pro675Ser)
c.2341C>T (p.Pro781Ser)
c.2317C>T (p.Pro773Ser)
c.2371C>T (p.Pro791Ser)
c.1075C>T (p.Pro359Ser)
c.2077C>T (p.Pro693Ser)
c.1051C>T (p.Pro351Ser)
 gnomAD v4
9g.110800690C>ACA374479199MUSKc.2312C>A (p.Pro771Gln)
c.2054C>A (p.Pro685Gln)
c.2288C>A (p.Pro763Gln)
c.2024C>A (p.Pro675Gln)
c.2342C>A (p.Pro781Gln)
c.2318C>A (p.Pro773Gln)
c.2372C>A (p.Pro791Gln)
c.1076C>A (p.Pro359Gln)
c.2078C>A (p.Pro693Gln)
c.1052C>A (p.Pro351Gln)
9g.110800690C>GCA374479201MUSKc.2312C>G (p.Pro771Arg)
c.2054C>G (p.Pro685Arg)
c.2288C>G (p.Pro763Arg)
c.2024C>G (p.Pro675Arg)
c.2342C>G (p.Pro781Arg)
c.2318C>G (p.Pro773Arg)
c.2372C>G (p.Pro791Arg)
c.1076C>G (p.Pro359Arg)
c.2078C>G (p.Pro693Arg)
c.1052C>G (p.Pro351Arg)
9g.110800690C>TCA374479200MUSKc.2312C>T (p.Pro771Leu)
c.2054C>T (p.Pro685Leu)
c.2288C>T (p.Pro763Leu)
c.2024C>T (p.Pro675Leu)
c.2342C>T (p.Pro781Leu)
c.2318C>T (p.Pro773Leu)
c.2372C>T (p.Pro791Leu)
c.1076C>T (p.Pro359Leu)
c.2078C>T (p.Pro693Leu)
c.1052C>T (p.Pro351Leu)
9g.110800691A>CCA466901018MUSKc.2313A>C (p.Pro771=)
c.2055A>C (p.Pro685=)
c.2289A>C (p.Pro763=)
c.2025A>C (p.Pro675=)
c.2343A>C (p.Pro781=)
c.2319A>C (p.Pro773=)
c.2373A>C (p.Pro791=)
c.1077A>C (p.Pro359=)
c.2079A>C (p.Pro693=)
c.1053A>C (p.Pro351=)
 gnomAD v4
9g.110800691A>GCA466901019MUSKc.2313A>G (p.Pro771=)
c.2055A>G (p.Pro685=)
c.2289A>G (p.Pro763=)
c.2025A>G (p.Pro675=)
c.2343A>G (p.Pro781=)
c.2319A>G (p.Pro773=)
c.2373A>G (p.Pro791=)
c.1077A>G (p.Pro359=)
c.2079A>G (p.Pro693=)
c.1053A>G (p.Pro351=)
9g.110800691A>TCA466901020MUSKc.2313A>T (p.Pro771=)
c.2055A>T (p.Pro685=)
c.2289A>T (p.Pro763=)
c.2025A>T (p.Pro675=)
c.2343A>T (p.Pro781=)
c.2319A>T (p.Pro773=)
c.2373A>T (p.Pro791=)
c.1077A>T (p.Pro359=)
c.2079A>T (p.Pro693=)
c.1053A>T (p.Pro351=)
9g.110800692G>ACA374479204MUSKc.2314G>A (p.Glu772Lys)
c.2056G>A (p.Glu686Lys)
c.2290G>A (p.Glu764Lys)
c.2026G>A (p.Glu676Lys)
c.2344G>A (p.Glu782Lys)
c.2320G>A (p.Glu774Lys)
c.2374G>A (p.Glu792Lys)
c.1078G>A (p.Glu360Lys)
c.2080G>A (p.Glu694Lys)
c.1054G>A (p.Glu352Lys)
 ClinVar dbSNP
9g.110800692G>CCA374479206MUSKc.2314G>C (p.Glu772Gln)
c.2056G>C (p.Glu686Gln)
c.2290G>C (p.Glu764Gln)
c.2026G>C (p.Glu676Gln)
c.2344G>C (p.Glu782Gln)
c.2320G>C (p.Glu774Gln)
c.2374G>C (p.Glu792Gln)
c.1078G>C (p.Glu360Gln)
c.2080G>C (p.Glu694Gln)
c.1054G>C (p.Glu352Gln)
9g.110800692G>TCA374479209MUSKc.2314G>T (p.Glu772Ter)
c.2056G>T (p.Glu686Ter)
c.2290G>T (p.Glu764Ter)
c.2026G>T (p.Glu676Ter)
c.2344G>T (p.Glu782Ter)
c.2320G>T (p.Glu774Ter)
c.2374G>T (p.Glu792Ter)
c.1078G>T (p.Glu360Ter)
c.2080G>T (p.Glu694Ter)
c.1054G>T (p.Glu352Ter)
9g.110800693A>CCA374479213MUSKc.2315A>C (p.Glu772Ala)
c.2057A>C (p.Glu686Ala)
c.2291A>C (p.Glu764Ala)
c.2027A>C (p.Glu676Ala)
c.2345A>C (p.Glu782Ala)
c.2321A>C (p.Glu774Ala)
c.2375A>C (p.Glu792Ala)
c.1079A>C (p.Glu360Ala)
c.2081A>C (p.Glu694Ala)
c.1055A>C (p.Glu352Ala)
9g.110800693A>GCA374479215MUSKc.2315A>G (p.Glu772Gly)
c.2057A>G (p.Glu686Gly)
c.2291A>G (p.Glu764Gly)
c.2027A>G (p.Glu676Gly)
c.2345A>G (p.Glu782Gly)
c.2321A>G (p.Glu774Gly)
c.2375A>G (p.Glu792Gly)
c.1079A>G (p.Glu360Gly)
c.2081A>G (p.Glu694Gly)
c.1055A>G (p.Glu352Gly)
9g.110800693A>TCA374479218MUSKc.2315A>T (p.Glu772Val)
c.2057A>T (p.Glu686Val)
c.2291A>T (p.Glu764Val)
c.2027A>T (p.Glu676Val)
c.2345A>T (p.Glu782Val)
c.2321A>T (p.Glu774Val)
c.2375A>T (p.Glu792Val)
c.1079A>T (p.Glu360Val)
c.2081A>T (p.Glu694Val)
c.1055A>T (p.Glu352Val)
9g.110800694G>ACA466901023MUSKc.2316G>A (p.Glu772=)
c.2058G>A (p.Glu686=)
c.2292G>A (p.Glu764=)
c.2028G>A (p.Glu676=)
c.2346G>A (p.Glu782=)
c.2322G>A (p.Glu774=)
c.2376G>A (p.Glu792=)
c.1080G>A (p.Glu360=)
c.2082G>A (p.Glu694=)
c.1056G>A (p.Glu352=)
9g.110800694G>CCA374479222MUSKc.2316G>C (p.Glu772Asp)
c.2058G>C (p.Glu686Asp)
c.2292G>C (p.Glu764Asp)
c.2028G>C (p.Glu676Asp)
c.2346G>C (p.Glu782Asp)
c.2322G>C (p.Glu774Asp)
c.2376G>C (p.Glu792Asp)
c.1080G>C (p.Glu360Asp)
c.2082G>C (p.Glu694Asp)
c.1056G>C (p.Glu352Asp)
9g.110800694G>TCA374479224MUSKc.2316G>T (p.Glu772Asp)
c.2058G>T (p.Glu686Asp)
c.2292G>T (p.Glu764Asp)
c.2028G>T (p.Glu676Asp)
c.2346G>T (p.Glu782Asp)
c.2322G>T (p.Glu774Asp)
c.2376G>T (p.Glu792Asp)
c.1080G>T (p.Glu360Asp)
c.2082G>T (p.Glu694Asp)
c.1056G>T (p.Glu352Asp)
9g.110800695T>ACA374479225MUSKc.2317T>A (p.Ser773Thr)
c.2059T>A (p.Ser687Thr)
c.2293T>A (p.Ser765Thr)
c.2029T>A (p.Ser677Thr)
c.2347T>A (p.Ser783Thr)
c.2323T>A (p.Ser775Thr)
c.2377T>A (p.Ser793Thr)
c.1081T>A (p.Ser361Thr)
c.2083T>A (p.Ser695Thr)
c.1057T>A (p.Ser353Thr)
9g.110800695T>CCA374479228MUSKc.2317T>C (p.Ser773Pro)
c.2059T>C (p.Ser687Pro)
c.2293T>C (p.Ser765Pro)
c.2029T>C (p.Ser677Pro)
c.2347T>C (p.Ser783Pro)
c.2323T>C (p.Ser775Pro)
c.2377T>C (p.Ser793Pro)
c.1081T>C (p.Ser361Pro)
c.2083T>C (p.Ser695Pro)
c.1057T>C (p.Ser353Pro)
 dbSNP gnomAD v2 gnomAD v4
9g.110800695T>GCA374479231MUSKc.2317T>G (p.Ser773Ala)
c.2059T>G (p.Ser687Ala)
c.2293T>G (p.Ser765Ala)
c.2029T>G (p.Ser677Ala)
c.2347T>G (p.Ser783Ala)
c.2323T>G (p.Ser775Ala)
c.2377T>G (p.Ser793Ala)
c.1081T>G (p.Ser361Ala)
c.2083T>G (p.Ser695Ala)
c.1057T>G (p.Ser353Ala)
9g.110800695T=CA1872205721MUSKc.2317T= (p.Ser773=)
c.2059T= (p.Ser687=)
c.2293T= (p.Ser765=)
c.2029T= (p.Ser677=)
c.2347T= (p.Ser783=)
c.2323T= (p.Ser775=)
c.2377T= (p.Ser793=)
c.1081T= (p.Ser361=)
c.2083T= (p.Ser695=)
c.1057T= (p.Ser353=)
9g.110800696C>ACA374479234MUSKc.2318C>A (p.Ser773Tyr)
c.2060C>A (p.Ser687Tyr)
c.2294C>A (p.Ser765Tyr)
c.2030C>A (p.Ser677Tyr)
c.2348C>A (p.Ser783Tyr)
c.2324C>A (p.Ser775Tyr)
c.2378C>A (p.Ser793Tyr)
c.1082C>A (p.Ser361Tyr)
c.2084C>A (p.Ser695Tyr)
c.1058C>A (p.Ser353Tyr)
9g.110800696C>GCA374479241MUSKc.2318C>G (p.Ser773Cys)
c.2060C>G (p.Ser687Cys)
c.2294C>G (p.Ser765Cys)
c.2030C>G (p.Ser677Cys)
c.2348C>G (p.Ser783Cys)
c.2324C>G (p.Ser775Cys)
c.2378C>G (p.Ser793Cys)
c.1082C>G (p.Ser361Cys)
c.2084C>G (p.Ser695Cys)
c.1058C>G (p.Ser353Cys)
 gnomAD v4
9g.110800696C>TCA374479239MUSKc.2318C>T (p.Ser773Phe)
c.2060C>T (p.Ser687Phe)
c.2294C>T (p.Ser765Phe)
c.2030C>T (p.Ser677Phe)
c.2348C>T (p.Ser783Phe)
c.2324C>T (p.Ser775Phe)
c.2378C>T (p.Ser793Phe)
c.1082C>T (p.Ser361Phe)
c.2084C>T (p.Ser695Phe)
c.1058C>T (p.Ser353Phe)
9g.110800697C>ACA466901025MUSKc.2319C>A (p.Ser773=)
c.2061C>A (p.Ser687=)
c.2295C>A (p.Ser765=)
c.2031C>A (p.Ser677=)
c.2349C>A (p.Ser783=)
c.2325C>A (p.Ser775=)
c.2379C>A (p.Ser793=)
c.1083C>A (p.Ser361=)
c.2085C>A (p.Ser695=)
c.1059C>A (p.Ser353=)
9g.110800697C=CA1872205722MUSKc.2319C= (p.Ser773=)
c.2061C= (p.Ser687=)
c.2295C= (p.Ser765=)
c.2031C= (p.Ser677=)
c.2349C= (p.Ser783=)
c.2325C= (p.Ser775=)
c.2379C= (p.Ser793=)
c.1083C= (p.Ser361=)
c.2085C= (p.Ser695=)
c.1059C= (p.Ser353=)
9g.110800697C>GCA5184608MUSKc.2319C>G (p.Ser773=)
c.2061C>G (p.Ser687=)
c.2295C>G (p.Ser765=)
c.2031C>G (p.Ser677=)
c.2349C>G (p.Ser783=)
c.2325C>G (p.Ser775=)
c.2379C>G (p.Ser793=)
c.1083C>G (p.Ser361=)
c.2085C>G (p.Ser695=)
c.1059C>G (p.Ser353=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800697C>TCA466901026MUSKc.2319C>T (p.Ser773=)
c.2061C>T (p.Ser687=)
c.2295C>T (p.Ser765=)
c.2031C>T (p.Ser677=)
c.2349C>T (p.Ser783=)
c.2325C>T (p.Ser775=)
c.2379C>T (p.Ser793=)
c.1083C>T (p.Ser361=)
c.2085C>T (p.Ser695=)
c.1059C>T (p.Ser353=)
9g.110800698A>CCA374479251MUSKc.2320A>C (p.Ile774Leu)
c.2062A>C (p.Ile688Leu)
c.2296A>C (p.Ile766Leu)
c.2032A>C (p.Ile678Leu)
c.2350A>C (p.Ile784Leu)
c.2326A>C (p.Ile776Leu)
c.2380A>C (p.Ile794Leu)
c.1084A>C (p.Ile362Leu)
c.2086A>C (p.Ile696Leu)
c.1060A>C (p.Ile354Leu)
9g.110800698A>GCA374479248MUSKc.2320A>G (p.Ile774Val)
c.2062A>G (p.Ile688Val)
c.2296A>G (p.Ile766Val)
c.2032A>G (p.Ile678Val)
c.2350A>G (p.Ile784Val)
c.2326A>G (p.Ile776Val)
c.2380A>G (p.Ile794Val)
c.1084A>G (p.Ile362Val)
c.2086A>G (p.Ile696Val)
c.1060A>G (p.Ile354Val)
9g.110800698A>TCA374479253MUSKc.2320A>T (p.Ile774Phe)
c.2062A>T (p.Ile688Phe)
c.2296A>T (p.Ile766Phe)
c.2032A>T (p.Ile678Phe)
c.2350A>T (p.Ile784Phe)
c.2326A>T (p.Ile776Phe)
c.2380A>T (p.Ile794Phe)
c.1084A>T (p.Ile362Phe)
c.2086A>T (p.Ile696Phe)
c.1060A>T (p.Ile354Phe)
9g.110800699T>ACA374479256MUSKc.2321T>A (p.Ile774Asn)
c.2063T>A (p.Ile688Asn)
c.2297T>A (p.Ile766Asn)
c.2033T>A (p.Ile678Asn)
c.2351T>A (p.Ile784Asn)
c.2327T>A (p.Ile776Asn)
c.2381T>A (p.Ile794Asn)
c.1085T>A (p.Ile362Asn)
c.2087T>A (p.Ile696Asn)
c.1061T>A (p.Ile354Asn)
9g.110800699T>CCA374479262MUSKc.2321T>C (p.Ile774Thr)
c.2063T>C (p.Ile688Thr)
c.2297T>C (p.Ile766Thr)
c.2033T>C (p.Ile678Thr)
c.2351T>C (p.Ile784Thr)
c.2327T>C (p.Ile776Thr)
c.2381T>C (p.Ile794Thr)
c.1085T>C (p.Ile362Thr)
c.2087T>C (p.Ile696Thr)
c.1061T>C (p.Ile354Thr)
9g.110800699T>GCA374479259MUSKc.2321T>G (p.Ile774Ser)
c.2063T>G (p.Ile688Ser)
c.2297T>G (p.Ile766Ser)
c.2033T>G (p.Ile678Ser)
c.2351T>G (p.Ile784Ser)
c.2327T>G (p.Ile776Ser)
c.2381T>G (p.Ile794Ser)
c.1085T>G (p.Ile362Ser)
c.2087T>G (p.Ile696Ser)
c.1061T>G (p.Ile354Ser)
9g.110800704dupCA2785557041MUSKc.2326dup (p.Tyr776LeufsTer2)
c.2068dup (p.Tyr690LeufsTer2)
c.2302dup (p.Tyr768LeufsTer2)
c.2038dup (p.Tyr680LeufsTer2)
c.2356dup (p.Tyr786LeufsTer2)
c.2332dup (p.Tyr778LeufsTer2)
c.2386dup (p.Tyr796LeufsTer2)
c.1090dup (p.Tyr364LeufsTer2)
c.2092dup (p.Tyr698LeufsTer2)
c.1066dup (p.Tyr356LeufsTer2)
9g.110800704delCA645545016MUSKc.2326del (p.Tyr776IlefsTer?)
c.2068del (p.Tyr690IlefsTer?)
c.2302del (p.Tyr768IlefsTer?)
c.2038del (p.Tyr680IlefsTer?)
c.2356del (p.Tyr786IlefsTer?)
c.2332del (p.Tyr778IlefsTer?)
c.2386del (p.Tyr796IlefsTer?)
c.1090del (p.Tyr364IlefsTer?)
c.2092del (p.Tyr698IlefsTer?)
c.1066del (p.Tyr356IlefsTer?)
 COSMIC COSMIC
9g.110800700T>ACA466901028MUSKc.2322T>A (p.Ile774=)
c.2064T>A (p.Ile688=)
c.2298T>A (p.Ile766=)
c.2034T>A (p.Ile678=)
c.2352T>A (p.Ile784=)
c.2328T>A (p.Ile776=)
c.2382T>A (p.Ile794=)
c.1086T>A (p.Ile362=)
c.2088T>A (p.Ile696=)
c.1062T>A (p.Ile354=)
9g.110800700T>CCA466901029MUSKc.2322T>C (p.Ile774=)
c.2064T>C (p.Ile688=)
c.2298T>C (p.Ile766=)
c.2034T>C (p.Ile678=)
c.2352T>C (p.Ile784=)
c.2328T>C (p.Ile776=)
c.2382T>C (p.Ile794=)
c.1086T>C (p.Ile362=)
c.2088T>C (p.Ile696=)
c.1062T>C (p.Ile354=)
 gnomAD v4
9g.110800700T>GCA5184609MUSKc.2322T>G (p.Ile774Met)
c.2064T>G (p.Ile688Met)
c.2298T>G (p.Ile766Met)
c.2034T>G (p.Ile678Met)
c.2352T>G (p.Ile784Met)
c.2328T>G (p.Ile776Met)
c.2382T>G (p.Ile794Met)
c.1086T>G (p.Ile362Met)
c.2088T>G (p.Ile696Met)
c.1062T>G (p.Ile354Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800700T=CA1872205723MUSKc.2322T= (p.Ile774=)
c.2064T= (p.Ile688=)
c.2298T= (p.Ile766=)
c.2034T= (p.Ile678=)
c.2352T= (p.Ile784=)
c.2328T= (p.Ile776=)
c.2382T= (p.Ile794=)
c.1086T= (p.Ile362=)
c.2088T= (p.Ile696=)
c.1062T= (p.Ile354=)
9g.110800701T>ACA374479266MUSKc.2323T>A (p.Phe775Ile)
c.2065T>A (p.Phe689Ile)
c.2299T>A (p.Phe767Ile)
c.2035T>A (p.Phe679Ile)
c.2353T>A (p.Phe785Ile)
c.2329T>A (p.Phe777Ile)
c.2383T>A (p.Phe795Ile)
c.1087T>A (p.Phe363Ile)
c.2089T>A (p.Phe697Ile)
c.1063T>A (p.Phe355Ile)
9g.110800701T>CCA374479269MUSKc.2323T>C (p.Phe775Leu)
c.2065T>C (p.Phe689Leu)
c.2299T>C (p.Phe767Leu)
c.2035T>C (p.Phe679Leu)
c.2353T>C (p.Phe785Leu)
c.2329T>C (p.Phe777Leu)
c.2383T>C (p.Phe795Leu)
c.1087T>C (p.Phe363Leu)
c.2089T>C (p.Phe697Leu)
c.1063T>C (p.Phe355Leu)
9g.110800701T>GCA374479270MUSKc.2323T>G (p.Phe775Val)
c.2065T>G (p.Phe689Val)
c.2299T>G (p.Phe767Val)
c.2035T>G (p.Phe679Val)
c.2353T>G (p.Phe785Val)
c.2329T>G (p.Phe777Val)
c.2383T>G (p.Phe795Val)
c.1087T>G (p.Phe363Val)
c.2089T>G (p.Phe697Val)
c.1063T>G (p.Phe355Val)
9g.110800702T>ACA374479272MUSKc.2324T>A (p.Phe775Tyr)
c.2066T>A (p.Phe689Tyr)
c.2300T>A (p.Phe767Tyr)
c.2036T>A (p.Phe679Tyr)
c.2354T>A (p.Phe785Tyr)
c.2330T>A (p.Phe777Tyr)
c.2384T>A (p.Phe795Tyr)
c.1088T>A (p.Phe363Tyr)
c.2090T>A (p.Phe697Tyr)
c.1064T>A (p.Phe355Tyr)
9g.110800702T>CCA374479275MUSKc.2324T>C (p.Phe775Ser)
c.2066T>C (p.Phe689Ser)
c.2300T>C (p.Phe767Ser)
c.2036T>C (p.Phe679Ser)
c.2354T>C (p.Phe785Ser)
c.2330T>C (p.Phe777Ser)
c.2384T>C (p.Phe795Ser)
c.1088T>C (p.Phe363Ser)
c.2090T>C (p.Phe697Ser)
c.1064T>C (p.Phe355Ser)
 dbSNP
9g.110800702T>GCA374479276MUSKc.2324T>G (p.Phe775Cys)
c.2066T>G (p.Phe689Cys)
c.2300T>G (p.Phe767Cys)
c.2036T>G (p.Phe679Cys)
c.2354T>G (p.Phe785Cys)
c.2330T>G (p.Phe777Cys)
c.2384T>G (p.Phe795Cys)
c.1088T>G (p.Phe363Cys)
c.2090T>G (p.Phe697Cys)
c.1064T>G (p.Phe355Cys)
9g.110800702T=CA1872205724MUSKc.2324T= (p.Phe775=)
c.2066T= (p.Phe689=)
c.2300T= (p.Phe767=)
c.2036T= (p.Phe679=)
c.2354T= (p.Phe785=)
c.2330T= (p.Phe777=)
c.2384T= (p.Phe795=)
c.1088T= (p.Phe363=)
c.2090T= (p.Phe697=)
c.1064T= (p.Phe355=)
9g.110800703T>ACA374479278MUSKc.2325T>A (p.Phe775Leu)
c.2067T>A (p.Phe689Leu)
c.2301T>A (p.Phe767Leu)
c.2037T>A (p.Phe679Leu)
c.2355T>A (p.Phe785Leu)
c.2331T>A (p.Phe777Leu)
c.2385T>A (p.Phe795Leu)
c.1089T>A (p.Phe363Leu)
c.2091T>A (p.Phe697Leu)
c.1065T>A (p.Phe355Leu)
9g.110800703T>CCA466901030MUSKc.2325T>C (p.Phe775=)
c.2067T>C (p.Phe689=)
c.2301T>C (p.Phe767=)
c.2037T>C (p.Phe679=)
c.2355T>C (p.Phe785=)
c.2331T>C (p.Phe777=)
c.2385T>C (p.Phe795=)
c.1089T>C (p.Phe363=)
c.2091T>C (p.Phe697=)
c.1065T>C (p.Phe355=)
9g.110800703T>GCA374479281MUSKc.2325T>G (p.Phe775Leu)
c.2067T>G (p.Phe689Leu)
c.2301T>G (p.Phe767Leu)
c.2037T>G (p.Phe679Leu)
c.2355T>G (p.Phe785Leu)
c.2331T>G (p.Phe777Leu)
c.2385T>G (p.Phe795Leu)
c.1089T>G (p.Phe363Leu)
c.2091T>G (p.Phe697Leu)
c.1065T>G (p.Phe355Leu)
9g.110800704T>ACA374479283MUSKc.2326T>A (p.Tyr776Asn)
c.2068T>A (p.Tyr690Asn)
c.2302T>A (p.Tyr768Asn)
c.2038T>A (p.Tyr680Asn)
c.2356T>A (p.Tyr786Asn)
c.2332T>A (p.Tyr778Asn)
c.2386T>A (p.Tyr796Asn)
c.1090T>A (p.Tyr364Asn)
c.2092T>A (p.Tyr698Asn)
c.1066T>A (p.Tyr356Asn)
9g.110800704T>CCA374479284MUSKc.2326T>C (p.Tyr776His)
c.2068T>C (p.Tyr690His)
c.2302T>C (p.Tyr768His)
c.2038T>C (p.Tyr680His)
c.2356T>C (p.Tyr786His)
c.2332T>C (p.Tyr778His)
c.2386T>C (p.Tyr796His)
c.1090T>C (p.Tyr364His)
c.2092T>C (p.Tyr698His)
c.1066T>C (p.Tyr356His)
 dbSNP gnomAD v4 COSMIC COSMIC
9g.110800704T>GCA374479287MUSKc.2326T>G (p.Tyr776Asp)
c.2068T>G (p.Tyr690Asp)
c.2302T>G (p.Tyr768Asp)
c.2038T>G (p.Tyr680Asp)
c.2356T>G (p.Tyr786Asp)
c.2332T>G (p.Tyr778Asp)
c.2386T>G (p.Tyr796Asp)
c.1090T>G (p.Tyr364Asp)
c.2092T>G (p.Tyr698Asp)
c.1066T>G (p.Tyr356Asp)
9g.110800704T=CA1872205725MUSKc.2326T= (p.Tyr776=)
c.2068T= (p.Tyr690=)
c.2302T= (p.Tyr768=)
c.2038T= (p.Tyr680=)
c.2356T= (p.Tyr786=)
c.2332T= (p.Tyr778=)
c.2386T= (p.Tyr796=)
c.1090T= (p.Tyr364=)
c.2092T= (p.Tyr698=)
c.1066T= (p.Tyr356=)
9g.110800705A>CCA374479290MUSKc.2327A>C (p.Tyr776Ser)
c.2069A>C (p.Tyr690Ser)
c.2303A>C (p.Tyr768Ser)
c.2039A>C (p.Tyr680Ser)
c.2357A>C (p.Tyr786Ser)
c.2333A>C (p.Tyr778Ser)
c.2387A>C (p.Tyr796Ser)
c.1091A>C (p.Tyr364Ser)
c.2093A>C (p.Tyr698Ser)
c.1067A>C (p.Tyr356Ser)
 gnomAD v4
9g.110800705A>GCA374479291MUSKc.2327A>G (p.Tyr776Cys)
c.2069A>G (p.Tyr690Cys)
c.2303A>G (p.Tyr768Cys)
c.2039A>G (p.Tyr680Cys)
c.2357A>G (p.Tyr786Cys)
c.2333A>G (p.Tyr778Cys)
c.2387A>G (p.Tyr796Cys)
c.1091A>G (p.Tyr364Cys)
c.2093A>G (p.Tyr698Cys)
c.1067A>G (p.Tyr356Cys)
9g.110800705A>TCA374479294MUSKc.2327A>T (p.Tyr776Phe)
c.2069A>T (p.Tyr690Phe)
c.2303A>T (p.Tyr768Phe)
c.2039A>T (p.Tyr680Phe)
c.2357A>T (p.Tyr786Phe)
c.2333A>T (p.Tyr778Phe)
c.2387A>T (p.Tyr796Phe)
c.1091A>T (p.Tyr364Phe)
c.2093A>T (p.Tyr698Phe)
c.1067A>T (p.Tyr356Phe)
9g.110800706T>ACA374479296MUSKc.2328T>A (p.Tyr776Ter)
c.2070T>A (p.Tyr690Ter)
c.2304T>A (p.Tyr768Ter)
c.2040T>A (p.Tyr680Ter)
c.2358T>A (p.Tyr786Ter)
c.2334T>A (p.Tyr778Ter)
c.2388T>A (p.Tyr796Ter)
c.1092T>A (p.Tyr364Ter)
c.2094T>A (p.Tyr698Ter)
c.1068T>A (p.Tyr356Ter)
9g.110800706T>CCA466901031MUSKc.2328T>C (p.Tyr776=)
c.2070T>C (p.Tyr690=)
c.2304T>C (p.Tyr768=)
c.2040T>C (p.Tyr680=)
c.2358T>C (p.Tyr786=)
c.2334T>C (p.Tyr778=)
c.2388T>C (p.Tyr796=)
c.1092T>C (p.Tyr364=)
c.2094T>C (p.Tyr698=)
c.1068T>C (p.Tyr356=)
9g.110800706T>GCA374479299MUSKc.2328T>G (p.Tyr776Ter)
c.2070T>G (p.Tyr690Ter)
c.2304T>G (p.Tyr768Ter)
c.2040T>G (p.Tyr680Ter)
c.2358T>G (p.Tyr786Ter)
c.2334T>G (p.Tyr778Ter)
c.2388T>G (p.Tyr796Ter)
c.1092T>G (p.Tyr364Ter)
c.2094T>G (p.Tyr698Ter)
c.1068T>G (p.Tyr356Ter)
9g.110800707A>CCA374479302MUSKc.2329A>C (p.Asn777His)
c.2071A>C (p.Asn691His)
c.2305A>C (p.Asn769His)
c.2041A>C (p.Asn681His)
c.2359A>C (p.Asn787His)
c.2335A>C (p.Asn779His)
c.2389A>C (p.Asn797His)
c.1093A>C (p.Asn365His)
c.2095A>C (p.Asn699His)
c.1069A>C (p.Asn357His)
 gnomAD v4
9g.110800707A>GCA374479305MUSKc.2329A>G (p.Asn777Asp)
c.2071A>G (p.Asn691Asp)
c.2305A>G (p.Asn769Asp)
c.2041A>G (p.Asn681Asp)
c.2359A>G (p.Asn787Asp)
c.2335A>G (p.Asn779Asp)
c.2389A>G (p.Asn797Asp)
c.1093A>G (p.Asn365Asp)
c.2095A>G (p.Asn699Asp)
c.1069A>G (p.Asn357Asp)
9g.110800707A>TCA374479307MUSKc.2329A>T (p.Asn777Tyr)
c.2071A>T (p.Asn691Tyr)
c.2305A>T (p.Asn769Tyr)
c.2041A>T (p.Asn681Tyr)
c.2359A>T (p.Asn787Tyr)
c.2335A>T (p.Asn779Tyr)
c.2389A>T (p.Asn797Tyr)
c.1093A>T (p.Asn365Tyr)
c.2095A>T (p.Asn699Tyr)
c.1069A>T (p.Asn357Tyr)
9g.110800708A>CCA374479309MUSKc.2330A>C (p.Asn777Thr)
c.2072A>C (p.Asn691Thr)
c.2306A>C (p.Asn769Thr)
c.2042A>C (p.Asn681Thr)
c.2360A>C (p.Asn787Thr)
c.2336A>C (p.Asn779Thr)
c.2390A>C (p.Asn797Thr)
c.1094A>C (p.Asn365Thr)
c.2096A>C (p.Asn699Thr)
c.1070A>C (p.Asn357Thr)
9g.110800708A>GCA374479312MUSKc.2330A>G (p.Asn777Ser)
c.2072A>G (p.Asn691Ser)
c.2306A>G (p.Asn769Ser)
c.2042A>G (p.Asn681Ser)
c.2360A>G (p.Asn787Ser)
c.2336A>G (p.Asn779Ser)
c.2390A>G (p.Asn797Ser)
c.1094A>G (p.Asn365Ser)
c.2096A>G (p.Asn699Ser)
c.1070A>G (p.Asn357Ser)
9g.110800708A>TCA374479315MUSKc.2330A>T (p.Asn777Ile)
c.2072A>T (p.Asn691Ile)
c.2306A>T (p.Asn769Ile)
c.2042A>T (p.Asn681Ile)
c.2360A>T (p.Asn787Ile)
c.2336A>T (p.Asn779Ile)
c.2390A>T (p.Asn797Ile)
c.1094A>T (p.Asn365Ile)
c.2096A>T (p.Asn699Ile)
c.1070A>T (p.Asn357Ile)
9g.110800709C>ACA374479318MUSKc.2331C>A (p.Asn777Lys)
c.2073C>A (p.Asn691Lys)
c.2307C>A (p.Asn769Lys)
c.2043C>A (p.Asn681Lys)
c.2361C>A (p.Asn787Lys)
c.2337C>A (p.Asn779Lys)
c.2391C>A (p.Asn797Lys)
c.1095C>A (p.Asn365Lys)
c.2097C>A (p.Asn699Lys)
c.1071C>A (p.Asn357Lys)
9g.110800709C=CA1872205726MUSKc.2331C= (p.Asn777=)
c.2073C= (p.Asn691=)
c.2307C= (p.Asn769=)
c.2043C= (p.Asn681=)
c.2361C= (p.Asn787=)
c.2337C= (p.Asn779=)
c.2391C= (p.Asn797=)
c.1095C= (p.Asn365=)
c.2097C= (p.Asn699=)
c.1071C= (p.Asn357=)
9g.110800709C>GCA374479320MUSKc.2331C>G (p.Asn777Lys)
c.2073C>G (p.Asn691Lys)
c.2307C>G (p.Asn769Lys)
c.2043C>G (p.Asn681Lys)
c.2361C>G (p.Asn787Lys)
c.2337C>G (p.Asn779Lys)
c.2391C>G (p.Asn797Lys)
c.1095C>G (p.Asn365Lys)
c.2097C>G (p.Asn699Lys)
c.1071C>G (p.Asn357Lys)
 gnomAD v4
9g.110800709C>TCA5184610MUSKc.2331C>T (p.Asn777=)
c.2073C>T (p.Asn691=)
c.2307C>T (p.Asn769=)
c.2043C>T (p.Asn681=)
c.2361C>T (p.Asn787=)
c.2337C>T (p.Asn779=)
c.2391C>T (p.Asn797=)
c.1095C>T (p.Asn365=)
c.2097C>T (p.Asn699=)
c.1071C>T (p.Asn357=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800710C>ACA374479324MUSKc.2332C>A (p.Arg778Ser)
c.2074C>A (p.Arg692Ser)
c.2308C>A (p.Arg770Ser)
c.2044C>A (p.Arg682Ser)
c.2362C>A (p.Arg788Ser)
c.2338C>A (p.Arg780Ser)
c.2392C>A (p.Arg798Ser)
c.1096C>A (p.Arg366Ser)
c.2098C>A (p.Arg700Ser)
c.1072C>A (p.Arg358Ser)
9g.110800710C=CA1872205727MUSKc.2332C= (p.Arg778=)
c.2074C= (p.Arg692=)
c.2308C= (p.Arg770=)
c.2044C= (p.Arg682=)
c.2362C= (p.Arg788=)
c.2338C= (p.Arg780=)
c.2392C= (p.Arg798=)
c.1096C= (p.Arg366=)
c.2098C= (p.Arg700=)
c.1072C= (p.Arg358=)
9g.110800710C>GCA374479327MUSKc.2332C>G (p.Arg778Gly)
c.2074C>G (p.Arg692Gly)
c.2308C>G (p.Arg770Gly)
c.2044C>G (p.Arg682Gly)
c.2362C>G (p.Arg788Gly)
c.2338C>G (p.Arg780Gly)
c.2392C>G (p.Arg798Gly)
c.1096C>G (p.Arg366Gly)
c.2098C>G (p.Arg700Gly)
c.1072C>G (p.Arg358Gly)
9g.110800710C>TCA5184611MUSKc.2332C>T (p.Arg778Cys)
c.2074C>T (p.Arg692Cys)
c.2308C>T (p.Arg770Cys)
c.2044C>T (p.Arg682Cys)
c.2362C>T (p.Arg788Cys)
c.2338C>T (p.Arg780Cys)
c.2392C>T (p.Arg798Cys)
c.1096C>T (p.Arg366Cys)
c.2098C>T (p.Arg700Cys)
c.1072C>T (p.Arg358Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800711G>ACA5184612MUSKc.2333G>A (p.Arg778His)
c.2075G>A (p.Arg692His)
c.2309G>A (p.Arg770His)
c.2045G>A (p.Arg682His)
c.2363G>A (p.Arg788His)
c.2339G>A (p.Arg780His)
c.2393G>A (p.Arg798His)
c.1097G>A (p.Arg366His)
c.2099G>A (p.Arg700His)
c.1073G>A (p.Arg358His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800711G>CCA374479333MUSKc.2333G>C (p.Arg778Pro)
c.2075G>C (p.Arg692Pro)
c.2309G>C (p.Arg770Pro)
c.2045G>C (p.Arg682Pro)
c.2363G>C (p.Arg788Pro)
c.2339G>C (p.Arg780Pro)
c.2393G>C (p.Arg798Pro)
c.1097G>C (p.Arg366Pro)
c.2099G>C (p.Arg700Pro)
c.1073G>C (p.Arg358Pro)
9g.110800711G=CA1872205728MUSKc.2333G= (p.Arg778=)
c.2075G= (p.Arg692=)
c.2309G= (p.Arg770=)
c.2045G= (p.Arg682=)
c.2363G= (p.Arg788=)
c.2339G= (p.Arg780=)
c.2393G= (p.Arg798=)
c.1097G= (p.Arg366=)
c.2099G= (p.Arg700=)
c.1073G= (p.Arg358=)
9g.110800711G>TCA374479330MUSKc.2333G>T (p.Arg778Leu)
c.2075G>T (p.Arg692Leu)
c.2309G>T (p.Arg770Leu)
c.2045G>T (p.Arg682Leu)
c.2363G>T (p.Arg788Leu)
c.2339G>T (p.Arg780Leu)
c.2393G>T (p.Arg798Leu)
c.1097G>T (p.Arg366Leu)
c.2099G>T (p.Arg700Leu)
c.1073G>T (p.Arg358Leu)
9g.110800712C>ACA466901038MUSKc.2334C>A (p.Arg778=)
c.2076C>A (p.Arg692=)
c.2310C>A (p.Arg770=)
c.2046C>A (p.Arg682=)
c.2364C>A (p.Arg788=)
c.2340C>A (p.Arg780=)
c.2394C>A (p.Arg798=)
c.1098C>A (p.Arg366=)
c.2100C>A (p.Arg700=)
c.1074C>A (p.Arg358=)
9g.110800712C=CA1872205729MUSKc.2334C= (p.Arg778=)
c.2076C= (p.Arg692=)
c.2310C= (p.Arg770=)
c.2046C= (p.Arg682=)
c.2364C= (p.Arg788=)
c.2340C= (p.Arg780=)
c.2394C= (p.Arg798=)
c.1098C= (p.Arg366=)
c.2100C= (p.Arg700=)
c.1074C= (p.Arg358=)
9g.110800712C>GCA466901040MUSKc.2334C>G (p.Arg778=)
c.2076C>G (p.Arg692=)
c.2310C>G (p.Arg770=)
c.2046C>G (p.Arg682=)
c.2364C>G (p.Arg788=)
c.2340C>G (p.Arg780=)
c.2394C>G (p.Arg798=)
c.1098C>G (p.Arg366=)
c.2100C>G (p.Arg700=)
c.1074C>G (p.Arg358=)
9g.110800712C>TCA466901042MUSKc.2334C>T (p.Arg778=)
c.2076C>T (p.Arg692=)
c.2310C>T (p.Arg770=)
c.2046C>T (p.Arg682=)
c.2364C>T (p.Arg788=)
c.2340C>T (p.Arg780=)
c.2394C>T (p.Arg798=)
c.1098C>T (p.Arg366=)
c.2100C>T (p.Arg700=)
c.1074C>T (p.Arg358=)
 dbSNP gnomAD v3 gnomAD v4
9g.110800713T>ACA374479336MUSKc.2335T>A (p.Tyr779Asn)
c.2077T>A (p.Tyr693Asn)
c.2311T>A (p.Tyr771Asn)
c.2047T>A (p.Tyr683Asn)
c.2365T>A (p.Tyr789Asn)
c.2341T>A (p.Tyr781Asn)
c.2395T>A (p.Tyr799Asn)
c.1099T>A (p.Tyr367Asn)
c.2101T>A (p.Tyr701Asn)
c.1075T>A (p.Tyr359Asn)
9g.110800713T>CCA374479338MUSKc.2335T>C (p.Tyr779His)
c.2077T>C (p.Tyr693His)
c.2311T>C (p.Tyr771His)
c.2047T>C (p.Tyr683His)
c.2365T>C (p.Tyr789His)
c.2341T>C (p.Tyr781His)
c.2395T>C (p.Tyr799His)
c.1099T>C (p.Tyr367His)
c.2101T>C (p.Tyr701His)
c.1075T>C (p.Tyr359His)
9g.110800713T>GCA374479340MUSKc.2335T>G (p.Tyr779Asp)
c.2077T>G (p.Tyr693Asp)
c.2311T>G (p.Tyr771Asp)
c.2047T>G (p.Tyr683Asp)
c.2365T>G (p.Tyr789Asp)
c.2341T>G (p.Tyr781Asp)
c.2395T>G (p.Tyr799Asp)
c.1099T>G (p.Tyr367Asp)
c.2101T>G (p.Tyr701Asp)
c.1075T>G (p.Tyr359Asp)
9g.110800714A>CCA374479341MUSKc.2336A>C (p.Tyr779Ser)
c.2078A>C (p.Tyr693Ser)
c.2312A>C (p.Tyr771Ser)
c.2048A>C (p.Tyr683Ser)
c.2366A>C (p.Tyr789Ser)
c.2342A>C (p.Tyr781Ser)
c.2396A>C (p.Tyr799Ser)
c.1100A>C (p.Tyr367Ser)
c.2102A>C (p.Tyr701Ser)
c.1076A>C (p.Tyr359Ser)
9g.110800714A>GCA374479343MUSKc.2336A>G (p.Tyr779Cys)
c.2078A>G (p.Tyr693Cys)
c.2312A>G (p.Tyr771Cys)
c.2048A>G (p.Tyr683Cys)
c.2366A>G (p.Tyr789Cys)
c.2342A>G (p.Tyr781Cys)
c.2396A>G (p.Tyr799Cys)
c.1100A>G (p.Tyr367Cys)
c.2102A>G (p.Tyr701Cys)
c.1076A>G (p.Tyr359Cys)
9g.110800714A>TCA374479345MUSKc.2336A>T (p.Tyr779Phe)
c.2078A>T (p.Tyr693Phe)
c.2312A>T (p.Tyr771Phe)
c.2048A>T (p.Tyr683Phe)
c.2366A>T (p.Tyr789Phe)
c.2342A>T (p.Tyr781Phe)
c.2396A>T (p.Tyr799Phe)
c.1100A>T (p.Tyr367Phe)
c.2102A>T (p.Tyr701Phe)
c.1076A>T (p.Tyr359Phe)
9g.110800715C>ACA374479347MUSKc.2337C>A (p.Tyr779Ter)
c.2079C>A (p.Tyr693Ter)
c.2313C>A (p.Tyr771Ter)
c.2049C>A (p.Tyr683Ter)
c.2367C>A (p.Tyr789Ter)
c.2343C>A (p.Tyr781Ter)
c.2397C>A (p.Tyr799Ter)
c.1101C>A (p.Tyr367Ter)
c.2103C>A (p.Tyr701Ter)
c.1077C>A (p.Tyr359Ter)
9g.110800715C>GCA374479349MUSKc.2337C>G (p.Tyr779Ter)
c.2079C>G (p.Tyr693Ter)
c.2313C>G (p.Tyr771Ter)
c.2049C>G (p.Tyr683Ter)
c.2367C>G (p.Tyr789Ter)
c.2343C>G (p.Tyr781Ter)
c.2397C>G (p.Tyr799Ter)
c.1101C>G (p.Tyr367Ter)
c.2103C>G (p.Tyr701Ter)
c.1077C>G (p.Tyr359Ter)
9g.110800715C>TCA466901044MUSKc.2337C>T (p.Tyr779=)
c.2079C>T (p.Tyr693=)
c.2313C>T (p.Tyr771=)
c.2049C>T (p.Tyr683=)
c.2367C>T (p.Tyr789=)
c.2343C>T (p.Tyr781=)
c.2397C>T (p.Tyr799=)
c.1101C>T (p.Tyr367=)
c.2103C>T (p.Tyr701=)
c.1077C>T (p.Tyr359=)
 gnomAD v4
9g.110800716A>CCA374479351MUSKc.2338A>C (p.Thr780Pro)
c.2080A>C (p.Thr694Pro)
c.2314A>C (p.Thr772Pro)
c.2050A>C (p.Thr684Pro)
c.2368A>C (p.Thr790Pro)
c.2344A>C (p.Thr782Pro)
c.2398A>C (p.Thr800Pro)
c.1102A>C (p.Thr368Pro)
c.2104A>C (p.Thr702Pro)
c.1078A>C (p.Thr360Pro)
9g.110800716A>GCA374479353MUSKc.2338A>G (p.Thr780Ala)
c.2080A>G (p.Thr694Ala)
c.2314A>G (p.Thr772Ala)
c.2050A>G (p.Thr684Ala)
c.2368A>G (p.Thr790Ala)
c.2344A>G (p.Thr782Ala)
c.2398A>G (p.Thr800Ala)
c.1102A>G (p.Thr368Ala)
c.2104A>G (p.Thr702Ala)
c.1078A>G (p.Thr360Ala)
 dbSNP gnomAD v4
9g.110800716A>TCA374479355MUSKc.2338A>T (p.Thr780Ser)
c.2080A>T (p.Thr694Ser)
c.2314A>T (p.Thr772Ser)
c.2050A>T (p.Thr684Ser)
c.2368A>T (p.Thr790Ser)
c.2344A>T (p.Thr782Ser)
c.2398A>T (p.Thr800Ser)
c.1102A>T (p.Thr368Ser)
c.2104A>T (p.Thr702Ser)
c.1078A>T (p.Thr360Ser)
9g.110800717C>ACA374479363MUSKc.2339C>A (p.Thr780Asn)
c.2081C>A (p.Thr694Asn)
c.2315C>A (p.Thr772Asn)
c.2051C>A (p.Thr684Asn)
c.2369C>A (p.Thr790Asn)
c.2345C>A (p.Thr782Asn)
c.2399C>A (p.Thr800Asn)
c.1103C>A (p.Thr368Asn)
c.2105C>A (p.Thr702Asn)
c.1079C>A (p.Thr360Asn)
9g.110800717C=CA1872205730MUSKc.2339C= (p.Thr780=)
c.2081C= (p.Thr694=)
c.2315C= (p.Thr772=)
c.2051C= (p.Thr684=)
c.2369C= (p.Thr790=)
c.2345C= (p.Thr782=)
c.2399C= (p.Thr800=)
c.1103C= (p.Thr368=)
c.2105C= (p.Thr702=)
c.1079C= (p.Thr360=)
9g.110800717C>GCA374479361MUSKc.2339C>G (p.Thr780Ser)
c.2081C>G (p.Thr694Ser)
c.2315C>G (p.Thr772Ser)
c.2051C>G (p.Thr684Ser)
c.2369C>G (p.Thr790Ser)
c.2345C>G (p.Thr782Ser)
c.2399C>G (p.Thr800Ser)
c.1103C>G (p.Thr368Ser)
c.2105C>G (p.Thr702Ser)
c.1079C>G (p.Thr360Ser)
9g.110800717C>TCA5184613MUSKc.2339C>T (p.Thr780Ile)
c.2081C>T (p.Thr694Ile)
c.2315C>T (p.Thr772Ile)
c.2051C>T (p.Thr684Ile)
c.2369C>T (p.Thr790Ile)
c.2345C>T (p.Thr782Ile)
c.2399C>T (p.Thr800Ile)
c.1103C>T (p.Thr368Ile)
c.2105C>T (p.Thr702Ile)
c.1079C>T (p.Thr360Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800717_110800718insCAAACACACCCAACA2785557045MUSKc.2339_2340insCAAACACACCCAA (p.Thr781LysfsTer8)
c.2081_2082insCAAACACACCCAA (p.Thr695LysfsTer8)
c.2315_2316insCAAACACACCCAA (p.Thr773LysfsTer8)
c.2051_2052insCAAACACACCCAA (p.Thr685LysfsTer8)
c.2369_2370insCAAACACACCCAA (p.Thr791LysfsTer8)
c.2345_2346insCAAACACACCCAA (p.Thr783LysfsTer8)
c.2399_2400insCAAACACACCCAA (p.Thr801LysfsTer8)
c.1103_1104insCAAACACACCCAA (p.Thr369LysfsTer8)
c.2105_2106insCAAACACACCCAA (p.Thr703LysfsTer8)
c.1079_1080insCAAACACACCCAA (p.Thr361LysfsTer8)
9g.110800718T>ACA466901056MUSKc.2340T>A (p.Thr780=)
c.2082T>A (p.Thr694=)
c.2316T>A (p.Thr772=)
c.2052T>A (p.Thr684=)
c.2370T>A (p.Thr790=)
c.2346T>A (p.Thr782=)
c.2400T>A (p.Thr800=)
c.1104T>A (p.Thr368=)
c.2106T>A (p.Thr702=)
c.1080T>A (p.Thr360=)
9g.110800718T>CCA466901051MUSKc.2340T>C (p.Thr780=)
c.2082T>C (p.Thr694=)
c.2316T>C (p.Thr772=)
c.2052T>C (p.Thr684=)
c.2370T>C (p.Thr790=)
c.2346T>C (p.Thr782=)
c.2400T>C (p.Thr800=)
c.1104T>C (p.Thr368=)
c.2106T>C (p.Thr702=)
c.1080T>C (p.Thr360=)
9g.110800718T>GCA466901049MUSKc.2340T>G (p.Thr780=)
c.2082T>G (p.Thr694=)
c.2316T>G (p.Thr772=)
c.2052T>G (p.Thr684=)
c.2370T>G (p.Thr790=)
c.2346T>G (p.Thr782=)
c.2400T>G (p.Thr800=)
c.1104T>G (p.Thr368=)
c.2106T>G (p.Thr702=)
c.1080T>G (p.Thr360=)
9g.110800719A>CCA374479365MUSKc.2341A>C (p.Thr781Pro)
c.2083A>C (p.Thr695Pro)
c.2317A>C (p.Thr773Pro)
c.2053A>C (p.Thr685Pro)
c.2371A>C (p.Thr791Pro)
c.2347A>C (p.Thr783Pro)
c.2401A>C (p.Thr801Pro)
c.1105A>C (p.Thr369Pro)
c.2107A>C (p.Thr703Pro)
c.1081A>C (p.Thr361Pro)
9g.110800719A>GCA374479366MUSKc.2341A>G (p.Thr781Ala)
c.2083A>G (p.Thr695Ala)
c.2317A>G (p.Thr773Ala)
c.2053A>G (p.Thr685Ala)
c.2371A>G (p.Thr791Ala)
c.2347A>G (p.Thr783Ala)
c.2401A>G (p.Thr801Ala)
c.1105A>G (p.Thr369Ala)
c.2107A>G (p.Thr703Ala)
c.1081A>G (p.Thr361Ala)
 gnomAD v4
9g.110800719A>TCA374479369MUSKc.2341A>T (p.Thr781Ser)
c.2083A>T (p.Thr695Ser)
c.2317A>T (p.Thr773Ser)
c.2053A>T (p.Thr685Ser)
c.2371A>T (p.Thr791Ser)
c.2347A>T (p.Thr783Ser)
c.2401A>T (p.Thr801Ser)
c.1105A>T (p.Thr369Ser)
c.2107A>T (p.Thr703Ser)
c.1081A>T (p.Thr361Ser)
9g.110800720_110800721delCA2691186947MUSKc.2342_2343del (p.Thr781ArgfsTer3)
c.2084_2085del (p.Thr695ArgfsTer3)
c.2318_2319del (p.Thr773ArgfsTer3)
c.2054_2055del (p.Thr685ArgfsTer3)
c.2372_2373del (p.Thr791ArgfsTer3)
c.2348_2349del (p.Thr783ArgfsTer3)
c.2402_2403del (p.Thr801ArgfsTer3)
c.1106_1107del (p.Thr369ArgfsTer3)
c.2108_2109del (p.Thr703ArgfsTer3)
c.1082_1083del (p.Thr361ArgfsTer3)
 gnomAD v4
9g.110800720C>ACA374479371MUSKc.2342C>A (p.Thr781Lys)
c.2084C>A (p.Thr695Lys)
c.2318C>A (p.Thr773Lys)
c.2054C>A (p.Thr685Lys)
c.2372C>A (p.Thr791Lys)
c.2348C>A (p.Thr783Lys)
c.2402C>A (p.Thr801Lys)
c.1106C>A (p.Thr369Lys)
c.2108C>A (p.Thr703Lys)
c.1082C>A (p.Thr361Lys)
9g.110800720C>GCA374479372MUSKc.2342C>G (p.Thr781Arg)
c.2084C>G (p.Thr695Arg)
c.2318C>G (p.Thr773Arg)
c.2054C>G (p.Thr685Arg)
c.2372C>G (p.Thr791Arg)
c.2348C>G (p.Thr783Arg)
c.2402C>G (p.Thr801Arg)
c.1106C>G (p.Thr369Arg)
c.2108C>G (p.Thr703Arg)
c.1082C>G (p.Thr361Arg)
9g.110800720C>TCA374479374MUSKc.2342C>T (p.Thr781Ile)
c.2084C>T (p.Thr695Ile)
c.2318C>T (p.Thr773Ile)
c.2054C>T (p.Thr685Ile)
c.2372C>T (p.Thr791Ile)
c.2348C>T (p.Thr783Ile)
c.2402C>T (p.Thr801Ile)
c.1106C>T (p.Thr369Ile)
c.2108C>T (p.Thr703Ile)
c.1082C>T (p.Thr361Ile)
9g.110800721A>CCA466901067MUSKc.2343A>C (p.Thr781=)
c.2085A>C (p.Thr695=)
c.2319A>C (p.Thr773=)
c.2055A>C (p.Thr685=)
c.2373A>C (p.Thr791=)
c.2349A>C (p.Thr783=)
c.2403A>C (p.Thr801=)
c.1107A>C (p.Thr369=)
c.2109A>C (p.Thr703=)
c.1083A>C (p.Thr361=)
9g.110800721A>GCA466901069MUSKc.2343A>G (p.Thr781=)
c.2085A>G (p.Thr695=)
c.2319A>G (p.Thr773=)
c.2055A>G (p.Thr685=)
c.2373A>G (p.Thr791=)
c.2349A>G (p.Thr783=)
c.2403A>G (p.Thr801=)
c.1107A>G (p.Thr369=)
c.2109A>G (p.Thr703=)
c.1083A>G (p.Thr361=)
 COSMIC COSMIC
9g.110800721A>TCA466901070MUSKc.2343A>T (p.Thr781=)
c.2085A>T (p.Thr695=)
c.2319A>T (p.Thr773=)
c.2055A>T (p.Thr685=)
c.2373A>T (p.Thr791=)
c.2349A>T (p.Thr783=)
c.2403A>T (p.Thr801=)
c.1107A>T (p.Thr369=)
c.2109A>T (p.Thr703=)
c.1083A>T (p.Thr361=)
9g.110800723_110800724delCA2579417166MUSKc.2345_2346del (p.Glu782ValfsTer2)
c.2087_2088del (p.Glu696ValfsTer2)
c.2321_2322del (p.Glu774ValfsTer2)
c.2057_2058del (p.Glu686ValfsTer2)
c.2375_2376del (p.Glu792ValfsTer2)
c.2351_2352del (p.Glu784ValfsTer2)
c.2405_2406del (p.Glu802ValfsTer2)
c.1109_1110del (p.Glu370ValfsTer2)
c.2111_2112del (p.Glu704ValfsTer2)
c.1085_1086del (p.Glu362ValfsTer2)
 gnomAD v4
9g.110800722G>ACA374479377MUSKc.2344G>A (p.Glu782Lys)
c.2086G>A (p.Glu696Lys)
c.2320G>A (p.Glu774Lys)
c.2056G>A (p.Glu686Lys)
c.2374G>A (p.Glu792Lys)
c.2350G>A (p.Glu784Lys)
c.2404G>A (p.Glu802Lys)
c.1108G>A (p.Glu370Lys)
c.2110G>A (p.Glu704Lys)
c.1084G>A (p.Glu362Lys)
9g.110800722G>CCA374479379MUSKc.2344G>C (p.Glu782Gln)
c.2086G>C (p.Glu696Gln)
c.2320G>C (p.Glu774Gln)
c.2056G>C (p.Glu686Gln)
c.2374G>C (p.Glu792Gln)
c.2350G>C (p.Glu784Gln)
c.2404G>C (p.Glu802Gln)
c.1108G>C (p.Glu370Gln)
c.2110G>C (p.Glu704Gln)
c.1084G>C (p.Glu362Gln)
9g.110800722G>TCA374479381MUSKc.2344G>T (p.Glu782Ter)
c.2086G>T (p.Glu696Ter)
c.2320G>T (p.Glu774Ter)
c.2056G>T (p.Glu686Ter)
c.2374G>T (p.Glu792Ter)
c.2350G>T (p.Glu784Ter)
c.2404G>T (p.Glu802Ter)
c.1108G>T (p.Glu370Ter)
c.2110G>T (p.Glu704Ter)
c.1084G>T (p.Glu362Ter)
9g.110800723A>CCA374479383MUSKc.2345A>C (p.Glu782Ala)
c.2087A>C (p.Glu696Ala)
c.2321A>C (p.Glu774Ala)
c.2057A>C (p.Glu686Ala)
c.2375A>C (p.Glu792Ala)
c.2351A>C (p.Glu784Ala)
c.2405A>C (p.Glu802Ala)
c.1109A>C (p.Glu370Ala)
c.2111A>C (p.Glu704Ala)
c.1085A>C (p.Glu362Ala)
9g.110800723A>GCA374479386MUSKc.2345A>G (p.Glu782Gly)
c.2087A>G (p.Glu696Gly)
c.2321A>G (p.Glu774Gly)
c.2057A>G (p.Glu686Gly)
c.2375A>G (p.Glu792Gly)
c.2351A>G (p.Glu784Gly)
c.2405A>G (p.Glu802Gly)
c.1109A>G (p.Glu370Gly)
c.2111A>G (p.Glu704Gly)
c.1085A>G (p.Glu362Gly)
9g.110800723A>TCA374479388MUSKc.2345A>T (p.Glu782Val)
c.2087A>T (p.Glu696Val)
c.2321A>T (p.Glu774Val)
c.2057A>T (p.Glu686Val)
c.2375A>T (p.Glu792Val)
c.2351A>T (p.Glu784Val)
c.2405A>T (p.Glu802Val)
c.1109A>T (p.Glu370Val)
c.2111A>T (p.Glu704Val)
c.1085A>T (p.Glu362Val)
9g.110800724G>ACA466901075MUSKc.2346G>A (p.Glu782=)
c.2088G>A (p.Glu696=)
c.2322G>A (p.Glu774=)
c.2058G>A (p.Glu686=)
c.2376G>A (p.Glu792=)
c.2352G>A (p.Glu784=)
c.2406G>A (p.Glu802=)
c.1110G>A (p.Glu370=)
c.2112G>A (p.Glu704=)
c.1086G>A (p.Glu362=)
9g.110800724G>CCA374479391MUSKc.2346G>C (p.Glu782Asp)
c.2088G>C (p.Glu696Asp)
c.2322G>C (p.Glu774Asp)
c.2058G>C (p.Glu686Asp)
c.2376G>C (p.Glu792Asp)
c.2352G>C (p.Glu784Asp)
c.2406G>C (p.Glu802Asp)
c.1110G>C (p.Glu370Asp)
c.2112G>C (p.Glu704Asp)
c.1086G>C (p.Glu362Asp)
9g.110800724G=CA1872205731MUSKc.2346G= (p.Glu782=)
c.2088G= (p.Glu696=)
c.2322G= (p.Glu774=)
c.2058G= (p.Glu686=)
c.2376G= (p.Glu792=)
c.2352G= (p.Glu784=)
c.2406G= (p.Glu802=)
c.1110G= (p.Glu370=)
c.2112G= (p.Glu704=)
c.1086G= (p.Glu362=)
9g.110800724G>TCA5184614MUSKc.2346G>T (p.Glu782Asp)
c.2088G>T (p.Glu696Asp)
c.2322G>T (p.Glu774Asp)
c.2058G>T (p.Glu686Asp)
c.2376G>T (p.Glu792Asp)
c.2352G>T (p.Glu784Asp)
c.2406G>T (p.Glu802Asp)
c.1110G>T (p.Glu370Asp)
c.2112G>T (p.Glu704Asp)
c.1086G>T (p.Glu362Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800725T>ACA374479393MUSKc.2347T>A (p.Ser783Thr)
c.2089T>A (p.Ser697Thr)
c.2323T>A (p.Ser775Thr)
c.2059T>A (p.Ser687Thr)
c.2377T>A (p.Ser793Thr)
c.2353T>A (p.Ser785Thr)
c.2407T>A (p.Ser803Thr)
c.1111T>A (p.Ser371Thr)
c.2113T>A (p.Ser705Thr)
c.1087T>A (p.Ser363Thr)
9g.110800725T>CCA374479397MUSKc.2347T>C (p.Ser783Pro)
c.2089T>C (p.Ser697Pro)
c.2323T>C (p.Ser775Pro)
c.2059T>C (p.Ser687Pro)
c.2377T>C (p.Ser793Pro)
c.2353T>C (p.Ser785Pro)
c.2407T>C (p.Ser803Pro)
c.1111T>C (p.Ser371Pro)
c.2113T>C (p.Ser705Pro)
c.1087T>C (p.Ser363Pro)
9g.110800725T>GCA374479395MUSKc.2347T>G (p.Ser783Ala)
c.2089T>G (p.Ser697Ala)
c.2323T>G (p.Ser775Ala)
c.2059T>G (p.Ser687Ala)
c.2377T>G (p.Ser793Ala)
c.2353T>G (p.Ser785Ala)
c.2407T>G (p.Ser803Ala)
c.1111T>G (p.Ser371Ala)
c.2113T>G (p.Ser705Ala)
c.1087T>G (p.Ser363Ala)
9g.110800726C>ACA374479399MUSKc.2348C>A (p.Ser783Tyr)
c.2090C>A (p.Ser697Tyr)
c.2324C>A (p.Ser775Tyr)
c.2060C>A (p.Ser687Tyr)
c.2378C>A (p.Ser793Tyr)
c.2354C>A (p.Ser785Tyr)
c.2408C>A (p.Ser803Tyr)
c.1112C>A (p.Ser371Tyr)
c.2114C>A (p.Ser705Tyr)
c.1088C>A (p.Ser363Tyr)
9g.110800726C>GCA374479401MUSKc.2348C>G (p.Ser783Cys)
c.2090C>G (p.Ser697Cys)
c.2324C>G (p.Ser775Cys)
c.2060C>G (p.Ser687Cys)
c.2378C>G (p.Ser793Cys)
c.2354C>G (p.Ser785Cys)
c.2408C>G (p.Ser803Cys)
c.1112C>G (p.Ser371Cys)
c.2114C>G (p.Ser705Cys)
c.1088C>G (p.Ser363Cys)
9g.110800726C>TCA374479402MUSKc.2348C>T (p.Ser783Phe)
c.2090C>T (p.Ser697Phe)
c.2324C>T (p.Ser775Phe)
c.2060C>T (p.Ser687Phe)
c.2378C>T (p.Ser793Phe)
c.2354C>T (p.Ser785Phe)
c.2408C>T (p.Ser803Phe)
c.1112C>T (p.Ser371Phe)
c.2114C>T (p.Ser705Phe)
c.1088C>T (p.Ser363Phe)
 COSMIC COSMIC
9g.110800727T>ACA466901088MUSKc.2349T>A (p.Ser783=)
c.2091T>A (p.Ser697=)
c.2325T>A (p.Ser775=)
c.2061T>A (p.Ser687=)
c.2379T>A (p.Ser793=)
c.2355T>A (p.Ser785=)
c.2409T>A (p.Ser803=)
c.1113T>A (p.Ser371=)
c.2115T>A (p.Ser705=)
c.1089T>A (p.Ser363=)
9g.110800727T>CCA466901090MUSKc.2349T>C (p.Ser783=)
c.2091T>C (p.Ser697=)
c.2325T>C (p.Ser775=)
c.2061T>C (p.Ser687=)
c.2379T>C (p.Ser793=)
c.2355T>C (p.Ser785=)
c.2409T>C (p.Ser803=)
c.1113T>C (p.Ser371=)
c.2115T>C (p.Ser705=)
c.1089T>C (p.Ser363=)
9g.110800727T>GCA466901093MUSKc.2349T>G (p.Ser783=)
c.2091T>G (p.Ser697=)
c.2325T>G (p.Ser775=)
c.2061T>G (p.Ser687=)
c.2379T>G (p.Ser793=)
c.2355T>G (p.Ser785=)
c.2409T>G (p.Ser803=)
c.1113T>G (p.Ser371=)
c.2115T>G (p.Ser705=)
c.1089T>G (p.Ser363=)
9g.110800728G>ACA374479404MUSKc.2350G>A (p.Asp784Asn)
c.2092G>A (p.Asp698Asn)
c.2326G>A (p.Asp776Asn)
c.2062G>A (p.Asp688Asn)
c.2380G>A (p.Asp794Asn)
c.2356G>A (p.Asp786Asn)
c.2410G>A (p.Asp804Asn)
c.1114G>A (p.Asp372Asn)
c.2116G>A (p.Asp706Asn)
c.1090G>A (p.Asp364Asn)
 ClinVar dbSNP
9g.110800728G>CCA374479406MUSKc.2350G>C (p.Asp784His)
c.2092G>C (p.Asp698His)
c.2326G>C (p.Asp776His)
c.2062G>C (p.Asp688His)
c.2380G>C (p.Asp794His)
c.2356G>C (p.Asp786His)
c.2410G>C (p.Asp804His)
c.1114G>C (p.Asp372His)
c.2116G>C (p.Asp706His)
c.1090G>C (p.Asp364His)
9g.110800728G>TCA374479407MUSKc.2350G>T (p.Asp784Tyr)
c.2092G>T (p.Asp698Tyr)
c.2326G>T (p.Asp776Tyr)
c.2062G>T (p.Asp688Tyr)
c.2380G>T (p.Asp794Tyr)
c.2356G>T (p.Asp786Tyr)
c.2410G>T (p.Asp804Tyr)
c.1114G>T (p.Asp372Tyr)
c.2116G>T (p.Asp706Tyr)
c.1090G>T (p.Asp364Tyr)
9g.110800729A=CA1872205732MUSKc.2351A= (p.Asp784=)
c.2093A= (p.Asp698=)
c.2327A= (p.Asp776=)
c.2063A= (p.Asp688=)
c.2381A= (p.Asp794=)
c.2357A= (p.Asp786=)
c.2411A= (p.Asp804=)
c.1115A= (p.Asp372=)
c.2117A= (p.Asp706=)
c.1091A= (p.Asp364=)
9g.110800729A>CCA5184615MUSKc.2351A>C (p.Asp784Ala)
c.2093A>C (p.Asp698Ala)
c.2327A>C (p.Asp776Ala)
c.2063A>C (p.Asp688Ala)
c.2381A>C (p.Asp794Ala)
c.2357A>C (p.Asp786Ala)
c.2411A>C (p.Asp804Ala)
c.1115A>C (p.Asp372Ala)
c.2117A>C (p.Asp706Ala)
c.1091A>C (p.Asp364Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.110800729A>GCA374479409MUSKc.2351A>G (p.Asp784Gly)
c.2093A>G (p.Asp698Gly)
c.2327A>G (p.Asp776Gly)
c.2063A>G (p.Asp688Gly)
c.2381A>G (p.Asp794Gly)
c.2357A>G (p.Asp786Gly)
c.2411A>G (p.Asp804Gly)
c.1115A>G (p.Asp372Gly)
c.2117A>G (p.Asp706Gly)
c.1091A>G (p.Asp364Gly)
9g.110800729A>TCA374479411MUSKc.2351A>T (p.Asp784Val)
c.2093A>T (p.Asp698Val)
c.2327A>T (p.Asp776Val)
c.2063A>T (p.Asp688Val)
c.2381A>T (p.Asp794Val)
c.2357A>T (p.Asp786Val)
c.2411A>T (p.Asp804Val)
c.1115A>T (p.Asp372Val)
c.2117A>T (p.Asp706Val)
c.1091A>T (p.Asp364Val)
9g.110800730T>ACA374479414MUSKc.2352T>A (p.Asp784Glu)
c.2094T>A (p.Asp698Glu)
c.2328T>A (p.Asp776Glu)
c.2064T>A (p.Asp688Glu)
c.2382T>A (p.Asp794Glu)
c.2358T>A (p.Asp786Glu)
c.2412T>A (p.Asp804Glu)
c.1116T>A (p.Asp372Glu)
c.2118T>A (p.Asp706Glu)
c.1092T>A (p.Asp364Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.110800730T>CCA466901101MUSKc.2352T>C (p.Asp784=)
c.2094T>C (p.Asp698=)
c.2328T>C (p.Asp776=)
c.2064T>C (p.Asp688=)
c.2382T>C (p.Asp794=)
c.2358T>C (p.Asp786=)
c.2412T>C (p.Asp804=)
c.1116T>C (p.Asp372=)
c.2118T>C (p.Asp706=)
c.1092T>C (p.Asp364=)
 gnomAD v4
9g.110800730T>GCA374479415MUSKc.2352T>G (p.Asp784Glu)
c.2094T>G (p.Asp698Glu)
c.2328T>G (p.Asp776Glu)
c.2064T>G (p.Asp688Glu)
c.2382T>G (p.Asp794Glu)
c.2358T>G (p.Asp786Glu)
c.2412T>G (p.Asp804Glu)
c.1116T>G (p.Asp372Glu)
c.2118T>G (p.Asp706Glu)
c.1092T>G (p.Asp364Glu)
9g.110800730T=CA1872205733MUSKc.2352T= (p.Asp784=)
c.2094T= (p.Asp698=)
c.2328T= (p.Asp776=)
c.2064T= (p.Asp688=)
c.2382T= (p.Asp794=)
c.2358T= (p.Asp786=)
c.2412T= (p.Asp804=)
c.1116T= (p.Asp372=)
c.2118T= (p.Asp706=)
c.1092T= (p.Asp364=)
9g.110800731G>ACA374479422MUSKc.2353G>A (p.Val785Met)
c.2095G>A (p.Val699Met)
c.2329G>A (p.Val777Met)
c.2065G>A (p.Val689Met)
c.2383G>A (p.Val795Met)
c.2359G>A (p.Val787Met)
c.2413G>A (p.Val805Met)
c.1117G>A (p.Val373Met)
c.2119G>A (p.Val707Met)
c.1093G>A (p.Val365Met)
 ClinVar dbSNP gnomAD v4
9g.110800731G>CCA374479420MUSKc.2353G>C (p.Val785Leu)
c.2095G>C (p.Val699Leu)
c.2329G>C (p.Val777Leu)
c.2065G>C (p.Val689Leu)
c.2383G>C (p.Val795Leu)
c.2359G>C (p.Val787Leu)
c.2413G>C (p.Val805Leu)
c.1117G>C (p.Val373Leu)
c.2119G>C (p.Val707Leu)
c.1093G>C (p.Val365Leu)
9g.110800731G=CA1872205734MUSKc.2353G= (p.Val785=)
c.2095G= (p.Val699=)
c.2329G= (p.Val777=)
c.2065G= (p.Val689=)
c.2383G= (p.Val795=)
c.2359G= (p.Val787=)
c.2413G= (p.Val805=)
c.1117G= (p.Val373=)
c.2119G= (p.Val707=)
c.1093G= (p.Val365=)
9g.110800731G>TCA374479418MUSKc.2353G>T (p.Val785Leu)
c.2095G>T (p.Val699Leu)
c.2329G>T (p.Val777Leu)
c.2065G>T (p.Val689Leu)
c.2383G>T (p.Val795Leu)
c.2359G>T (p.Val787Leu)
c.2413G>T (p.Val805Leu)
c.1117G>T (p.Val373Leu)
c.2119G>T (p.Val707Leu)
c.1093G>T (p.Val365Leu)
9g.110800732T>ACA374479424MUSKc.2354T>A (p.Val785Glu)
c.2096T>A (p.Val699Glu)
c.2330T>A (p.Val777Glu)
c.2066T>A (p.Val689Glu)
c.2384T>A (p.Val795Glu)
c.2360T>A (p.Val787Glu)
c.2414T>A (p.Val805Glu)
c.1118T>A (p.Val373Glu)
c.2120T>A (p.Val707Glu)
c.1094T>A (p.Val365Glu)
9g.110800732T>CCA374479426MUSKc.2354T>C (p.Val785Ala)
c.2096T>C (p.Val699Ala)
c.2330T>C (p.Val777Ala)
c.2066T>C (p.Val689Ala)
c.2384T>C (p.Val795Ala)
c.2360T>C (p.Val787Ala)
c.2414T>C (p.Val805Ala)
c.1118T>C (p.Val373Ala)
c.2120T>C (p.Val707Ala)
c.1094T>C (p.Val365Ala)
9g.110800732T>GCA374479427MUSKc.2354T>G (p.Val785Gly)
c.2096T>G (p.Val699Gly)
c.2330T>G (p.Val777Gly)
c.2066T>G (p.Val689Gly)
c.2384T>G (p.Val795Gly)
c.2360T>G (p.Val787Gly)
c.2414T>G (p.Val805Gly)
c.1118T>G (p.Val373Gly)
c.2120T>G (p.Val707Gly)
c.1094T>G (p.Val365Gly)
9g.110800733G>ACA466901110MUSKc.2355G>A (p.Val785=)
c.2097G>A (p.Val699=)
c.2331G>A (p.Val777=)
c.2067G>A (p.Val689=)
c.2385G>A (p.Val795=)
c.2361G>A (p.Val787=)
c.2415G>A (p.Val805=)
c.1119G>A (p.Val373=)
c.2121G>A (p.Val707=)
c.1095G>A (p.Val365=)
 gnomAD v4
9g.110800733G>CCA466901111MUSKc.2355G>C (p.Val785=)
c.2097G>C (p.Val699=)
c.2331G>C (p.Val777=)
c.2067G>C (p.Val689=)
c.2385G>C (p.Val795=)
c.2361G>C (p.Val787=)
c.2415G>C (p.Val805=)
c.1119G>C (p.Val373=)
c.2121G>C (p.Val707=)
c.1095G>C (p.Val365=)
9g.110800733G=CA1872205735MUSKc.2355G= (p.Val785=)
c.2097G= (p.Val699=)
c.2331G= (p.Val777=)
c.2067G= (p.Val689=)
c.2385G= (p.Val795=)
c.2361G= (p.Val787=)
c.2415G= (p.Val805=)
c.1119G= (p.Val373=)
c.2121G= (p.Val707=)
c.1095G= (p.Val365=)
9g.110800733G>TCA466901113MUSKc.2355G>T (p.Val785=)
c.2097G>T (p.Val699=)
c.2331G>T (p.Val777=)
c.2067G>T (p.Val689=)
c.2385G>T (p.Val795=)
c.2361G>T (p.Val787=)
c.2415G>T (p.Val805=)
c.1119G>T (p.Val373=)
c.2121G>T (p.Val707=)
c.1095G>T (p.Val365=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.110800734T>ACA374479429MUSKc.2356T>A (p.Trp786Arg)
c.2098T>A (p.Trp700Arg)
c.2332T>A (p.Trp778Arg)
c.2068T>A (p.Trp690Arg)
c.2386T>A (p.Trp796Arg)
c.2362T>A (p.Trp788Arg)
c.2416T>A (p.Trp806Arg)
c.1120T>A (p.Trp374Arg)
c.2122T>A (p.Trp708Arg)
c.1096T>A (p.Trp366Arg)
9g.110800734T>CCA374479430MUSKc.2356T>C (p.Trp786Arg)
c.2098T>C (p.Trp700Arg)
c.2332T>C (p.Trp778Arg)
c.2068T>C (p.Trp690Arg)
c.2386T>C (p.Trp796Arg)
c.2362T>C (p.Trp788Arg)
c.2416T>C (p.Trp806Arg)
c.1120T>C (p.Trp374Arg)
c.2122T>C (p.Trp708Arg)
c.1096T>C (p.Trp366Arg)
 ClinVar dbSNP gnomAD v4
9g.110800734T>GCA374479432MUSKc.2356T>G (p.Trp786Gly)
c.2098T>G (p.Trp700Gly)
c.2332T>G (p.Trp778Gly)
c.2068T>G (p.Trp690Gly)
c.2386T>G (p.Trp796Gly)
c.2362T>G (p.Trp788Gly)
c.2416T>G (p.Trp806Gly)
c.1120T>G (p.Trp374Gly)
c.2122T>G (p.Trp708Gly)
c.1096T>G (p.Trp366Gly)
9g.110800734T=CA1872205736MUSKc.2356T= (p.Trp786=)
c.2098T= (p.Trp700=)
c.2332T= (p.Trp778=)
c.2068T= (p.Trp690=)
c.2386T= (p.Trp796=)
c.2362T= (p.Trp788=)
c.2416T= (p.Trp806=)
c.1120T= (p.Trp374=)
c.2122T= (p.Trp708=)
c.1096T= (p.Trp366=)
9g.110800735G>ACA374479434MUSKc.2357G>A (p.Trp786Ter)
c.2099G>A (p.Trp700Ter)
c.2333G>A (p.Trp778Ter)
c.2069G>A (p.Trp690Ter)
c.2387G>A (p.Trp796Ter)
c.2363G>A (p.Trp788Ter)
c.2417G>A (p.Trp806Ter)
c.1121G>A (p.Trp374Ter)
c.2123G>A (p.Trp708Ter)
c.1097G>A (p.Trp366Ter)
 ClinVar dbSNP
9g.110800735G>CCA374479436MUSKc.2357G>C (p.Trp786Ser)
c.2099G>C (p.Trp700Ser)
c.2333G>C (p.Trp778Ser)
c.2069G>C (p.Trp690Ser)
c.2387G>C (p.Trp796Ser)
c.2363G>C (p.Trp788Ser)
c.2417G>C (p.Trp806Ser)
c.1121G>C (p.Trp374Ser)
c.2123G>C (p.Trp708Ser)
c.1097G>C (p.Trp366Ser)
9g.110800735G=CA1872205737MUSKc.2357G= (p.Trp786=)
c.2099G= (p.Trp700=)
c.2333G= (p.Trp778=)
c.2069G= (p.Trp690=)
c.2387G= (p.Trp796=)
c.2363G= (p.Trp788=)
c.2417G= (p.Trp806=)
c.1121G= (p.Trp374=)
c.2123G= (p.Trp708=)
c.1097G= (p.Trp366=)
9g.110800735G>TCA374479438MUSKc.2357G>T (p.Trp786Leu)
c.2099G>T (p.Trp700Leu)
c.2333G>T (p.Trp778Leu)
c.2069G>T (p.Trp690Leu)
c.2387G>T (p.Trp796Leu)
c.2363G>T (p.Trp788Leu)
c.2417G>T (p.Trp806Leu)
c.1121G>T (p.Trp374Leu)
c.2123G>T (p.Trp708Leu)
c.1097G>T (p.Trp366Leu)
 gnomAD v4
9g.110800736G>ACA374479440MUSKc.2358G>A (p.Trp786Ter)
c.2100G>A (p.Trp700Ter)
c.2334G>A (p.Trp778Ter)
c.2070G>A (p.Trp690Ter)
c.2388G>A (p.Trp796Ter)
c.2364G>A (p.Trp788Ter)
c.2418G>A (p.Trp806Ter)
c.1122G>A (p.Trp374Ter)
c.2124G>A (p.Trp708Ter)
c.1098G>A (p.Trp366Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.110800736G>CCA374479442MUSKc.2358G>C (p.Trp786Cys)
c.2100G>C (p.Trp700Cys)
c.2334G>C (p.Trp778Cys)
c.2070G>C (p.Trp690Cys)
c.2388G>C (p.Trp796Cys)
c.2364G>C (p.Trp788Cys)
c.2418G>C (p.Trp806Cys)
c.1122G>C (p.Trp374Cys)
c.2124G>C (p.Trp708Cys)
c.1098G>C (p.Trp366Cys)
 gnomAD v4
9g.110800736G=CA1872205738MUSKc.2358G= (p.Trp786=)
c.2100G= (p.Trp700=)
c.2334G= (p.Trp778=)
c.2070G= (p.Trp690=)
c.2388G= (p.Trp796=)
c.2364G= (p.Trp788=)
c.2418G= (p.Trp806=)
c.1122G= (p.Trp374=)
c.2124G= (p.Trp708=)
c.1098G= (p.Trp366=)
9g.110800736G>TCA198363723MUSKc.2358G>T (p.Trp786Cys)
c.2100G>T (p.Trp700Cys)
c.2334G>T (p.Trp778Cys)
c.2070G>T (p.Trp690Cys)
c.2388G>T (p.Trp796Cys)
c.2364G>T (p.Trp788Cys)
c.2418G>T (p.Trp806Cys)
c.1122G>T (p.Trp374Cys)
c.2124G>T (p.Trp708Cys)
c.1098G>T (p.Trp366Cys)
 dbSNP
9g.110800737G>ACA5184616MUSKc.2359G>A (p.Ala787Thr)
c.2101G>A (p.Ala701Thr)
c.2335G>A (p.Ala779Thr)
c.2071G>A (p.Ala691Thr)
c.2389G>A (p.Ala797Thr)
c.2365G>A (p.Ala789Thr)
c.2419G>A (p.Ala807Thr)
c.1123G>A (p.Ala375Thr)
c.2125G>A (p.Ala709Thr)
c.1099G>A (p.Ala367Thr)
 dbSNP ExAC gnomAD v2
9g.110800737G>CCA374479447MUSKc.2359G>C (p.Ala787Pro)
c.2101G>C (p.Ala701Pro)
c.2335G>C (p.Ala779Pro)
c.2071G>C (p.Ala691Pro)
c.2389G>C (p.Ala797Pro)
c.2365G>C (p.Ala789Pro)
c.2419G>C (p.Ala807Pro)
c.1123G>C (p.Ala375Pro)
c.2125G>C (p.Ala709Pro)
c.1099G>C (p.Ala367Pro)
9g.110800737G=CA1872205739MUSKc.2359G= (p.Ala787=)
c.2101G= (p.Ala701=)
c.2335G= (p.Ala779=)
c.2071G= (p.Ala691=)
c.2389G= (p.Ala797=)
c.2365G= (p.Ala789=)
c.2419G= (p.Ala807=)
c.1123G= (p.Ala375=)
c.2125G= (p.Ala709=)
c.1099G= (p.Ala367=)
9g.110800737G>TCA374479445MUSKc.2359G>T (p.Ala787Ser)
c.2101G>T (p.Ala701Ser)
c.2335G>T (p.Ala779Ser)
c.2071G>T (p.Ala691Ser)
c.2389G>T (p.Ala797Ser)
c.2365G>T (p.Ala789Ser)
c.2419G>T (p.Ala807Ser)
c.1123G>T (p.Ala375Ser)
c.2125G>T (p.Ala709Ser)
c.1099G>T (p.Ala367Ser)
9g.110800738C>ACA374479450MUSKc.2360C>A (p.Ala787Asp)
c.2102C>A (p.Ala701Asp)
c.2336C>A (p.Ala779Asp)
c.2072C>A (p.Ala691Asp)
c.2390C>A (p.Ala797Asp)
c.2366C>A (p.Ala789Asp)
c.2420C>A (p.Ala807Asp)
c.1124C>A (p.Ala375Asp)
c.2126C>A (p.Ala709Asp)
c.1100C>A (p.Ala367Asp)
9g.110800738C>GCA374479452MUSKc.2360C>G (p.Ala787Gly)
c.2102C>G (p.Ala701Gly)
c.2336C>G (p.Ala779Gly)
c.2072C>G (p.Ala691Gly)
c.2390C>G (p.Ala797Gly)
c.2366C>G (p.Ala789Gly)
c.2420C>G (p.Ala807Gly)
c.1124C>G (p.Ala375Gly)
c.2126C>G (p.Ala709Gly)
c.1100C>G (p.Ala367Gly)
9g.110800738C>TCA374479454MUSKc.2360C>T (p.Ala787Val)
c.2102C>T (p.Ala701Val)
c.2336C>T (p.Ala779Val)
c.2072C>T (p.Ala691Val)
c.2390C>T (p.Ala797Val)
c.2366C>T (p.Ala789Val)
c.2420C>T (p.Ala807Val)
c.1124C>T (p.Ala375Val)
c.2126C>T (p.Ala709Val)
c.1100C>T (p.Ala367Val)
 ClinVar
9g.110800739C>ACA466901128MUSKc.2361C>A (p.Ala787=)
c.2103C>A (p.Ala701=)
c.2337C>A (p.Ala779=)
c.2073C>A (p.Ala691=)
c.2391C>A (p.Ala797=)
c.2367C>A (p.Ala789=)
c.2421C>A (p.Ala807=)
c.1125C>A (p.Ala375=)
c.2127C>A (p.Ala709=)
c.1101C>A (p.Ala367=)
 COSMIC COSMIC
9g.110800739C>GCA466901130MUSKc.2361C>G (p.Ala787=)
c.2103C>G (p.Ala701=)
c.2337C>G (p.Ala779=)
c.2073C>G (p.Ala691=)
c.2391C>G (p.Ala797=)
c.2367C>G (p.Ala789=)
c.2421C>G (p.Ala807=)
c.1125C>G (p.Ala375=)
c.2127C>G (p.Ala709=)
c.1101C>G (p.Ala367=)
9g.110800739C>TCA466901129MUSKc.2361C>T (p.Ala787=)
c.2103C>T (p.Ala701=)
c.2337C>T (p.Ala779=)
c.2073C>T (p.Ala691=)
c.2391C>T (p.Ala797=)
c.2367C>T (p.Ala789=)
c.2421C>T (p.Ala807=)
c.1125C>T (p.Ala375=)
c.2127C>T (p.Ala709=)
c.1101C>T (p.Ala367=)
9g.110800740T>ACA374479456MUSKc.2362T>A (p.Tyr788Asn)
c.2104T>A (p.Tyr702Asn)
c.2338T>A (p.Tyr780Asn)
c.2074T>A (p.Tyr692Asn)
c.2392T>A (p.Tyr798Asn)
c.2368T>A (p.Tyr790Asn)
c.2422T>A (p.Tyr808Asn)
c.1126T>A (p.Tyr376Asn)
c.2128T>A (p.Tyr710Asn)
c.1102T>A (p.Tyr368Asn)
9g.110800740T>CCA374479458MUSKc.2362T>C (p.Tyr788His)
c.2104T>C (p.Tyr702His)
c.2338T>C (p.Tyr780His)
c.2074T>C (p.Tyr692His)
c.2392T>C (p.Tyr798His)
c.2368T>C (p.Tyr790His)
c.2422T>C (p.Tyr808His)
c.1126T>C (p.Tyr376His)
c.2128T>C (p.Tyr710His)
c.1102T>C (p.Tyr368His)
9g.110800740T>GCA374479461MUSKc.2362T>G (p.Tyr788Asp)
c.2104T>G (p.Tyr702Asp)
c.2338T>G (p.Tyr780Asp)
c.2074T>G (p.Tyr692Asp)
c.2392T>G (p.Tyr798Asp)
c.2368T>G (p.Tyr790Asp)
c.2422T>G (p.Tyr808Asp)
c.1126T>G (p.Tyr376Asp)
c.2128T>G (p.Tyr710Asp)
c.1102T>G (p.Tyr368Asp)
9g.110800741A=CA1872205740MUSKc.2363A= (p.Tyr788=)
c.2105A= (p.Tyr702=)
c.2339A= (p.Tyr780=)
c.2075A= (p.Tyr692=)
c.2393A= (p.Tyr798=)
c.2369A= (p.Tyr790=)
c.2423A= (p.Tyr808=)
c.1127A= (p.Tyr376=)
c.2129A= (p.Tyr710=)
c.1103A= (p.Tyr368=)
9g.110800741A>CCA374479463MUSKc.2363A>C (p.Tyr788Ser)
c.2105A>C (p.Tyr702Ser)
c.2339A>C (p.Tyr780Ser)
c.2075A>C (p.Tyr692Ser)
c.2393A>C (p.Tyr798Ser)
c.2369A>C (p.Tyr790Ser)
c.2423A>C (p.Tyr808Ser)
c.1127A>C (p.Tyr376Ser)
c.2129A>C (p.Tyr710Ser)
c.1103A>C (p.Tyr368Ser)
9g.110800741A>GCA374479464MUSKc.2363A>G (p.Tyr788Cys)
c.2105A>G (p.Tyr702Cys)
c.2339A>G (p.Tyr780Cys)
c.2075A>G (p.Tyr692Cys)
c.2393A>G (p.Tyr798Cys)
c.2369A>G (p.Tyr790Cys)
c.2423A>G (p.Tyr808Cys)
c.1127A>G (p.Tyr376Cys)
c.2129A>G (p.Tyr710Cys)
c.1103A>G (p.Tyr368Cys)
9g.110800741A>TCA374479466MUSKc.2363A>T (p.Tyr788Phe)
c.2105A>T (p.Tyr702Phe)
c.2339A>T (p.Tyr780Phe)
c.2075A>T (p.Tyr692Phe)
c.2393A>T (p.Tyr798Phe)
c.2369A>T (p.Tyr790Phe)
c.2423A>T (p.Tyr808Phe)
c.1127A>T (p.Tyr376Phe)
c.2129A>T (p.Tyr710Phe)
c.1103A>T (p.Tyr368Phe)
 dbSNP
9g.110800742T>ACA374479467MUSKc.2364T>A (p.Tyr788Ter)
c.2106T>A (p.Tyr702Ter)
c.2340T>A (p.Tyr780Ter)
c.2076T>A (p.Tyr692Ter)
c.2394T>A (p.Tyr798Ter)
c.2370T>A (p.Tyr790Ter)
c.2424T>A (p.Tyr808Ter)
c.1128T>A (p.Tyr376Ter)
c.2130T>A (p.Tyr710Ter)
c.1104T>A (p.Tyr368Ter)
9g.110800742T>CCA466901137MUSKc.2364T>C (p.Tyr788=)
c.2106T>C (p.Tyr702=)
c.2340T>C (p.Tyr780=)
c.2076T>C (p.Tyr692=)
c.2394T>C (p.Tyr798=)
c.2370T>C (p.Tyr790=)
c.2424T>C (p.Tyr808=)
c.1128T>C (p.Tyr376=)
c.2130T>C (p.Tyr710=)
c.1104T>C (p.Tyr368=)
 dbSNP gnomAD v3 gnomAD v4
9g.110800742T>GCA374479470MUSKc.2364T>G (p.Tyr788Ter)
c.2106T>G (p.Tyr702Ter)
c.2340T>G (p.Tyr780Ter)
c.2076T>G (p.Tyr692Ter)
c.2394T>G (p.Tyr798Ter)
c.2370T>G (p.Tyr790Ter)
c.2424T>G (p.Tyr808Ter)
c.1128T>G (p.Tyr376Ter)
c.2130T>G (p.Tyr710Ter)
c.1104T>G (p.Tyr368Ter)
 gnomAD v4
9g.110800742T=CA1872205741MUSKc.2364T= (p.Tyr788=)
c.2106T= (p.Tyr702=)
c.2340T= (p.Tyr780=)
c.2076T= (p.Tyr692=)
c.2394T= (p.Tyr798=)
c.2370T= (p.Tyr790=)
c.2424T= (p.Tyr808=)
c.1128T= (p.Tyr376=)
c.2130T= (p.Tyr710=)
c.1104T= (p.Tyr368=)
9g.110800743G>ACA16043436MUSKc.2365G>A (p.Gly789Ser)
c.2107G>A (p.Gly703Ser)
c.2341G>A (p.Gly781Ser)
c.2077G>A (p.Gly693Ser)
c.2395G>A (p.Gly799Ser)
c.2371G>A (p.Gly791Ser)
c.2425G>A (p.Gly809Ser)
c.1129G>A (p.Gly377Ser)
c.2131G>A (p.Gly711Ser)
c.1105G>A (p.Gly369Ser)
 ClinVar dbSNP gnomAD v4
9g.110800743G>CCA374479474MUSKc.2365G>C (p.Gly789Arg)
c.2107G>C (p.Gly703Arg)
c.2341G>C (p.Gly781Arg)
c.2077G>C (p.Gly693Arg)
c.2395G>C (p.Gly799Arg)
c.2371G>C (p.Gly791Arg)
c.2425G>C (p.Gly809Arg)
c.1129G>C (p.Gly377Arg)
c.2131G>C (p.Gly711Arg)
c.1105G>C (p.Gly369Arg)
9g.110800743G=CA1872205742MUSKc.2365G= (p.Gly789=)
c.2107G= (p.Gly703=)
c.2341G= (p.Gly781=)
c.2077G= (p.Gly693=)
c.2395G= (p.Gly799=)
c.2371G= (p.Gly791=)
c.2425G= (p.Gly809=)
c.1129G= (p.Gly377=)
c.2131G= (p.Gly711=)
c.1105G= (p.Gly369=)
9g.110800743G>TCA374479472MUSKc.2365G>T (p.Gly789Cys)
c.2107G>T (p.Gly703Cys)
c.2341G>T (p.Gly781Cys)
c.2077G>T (p.Gly693Cys)
c.2395G>T (p.Gly799Cys)
c.2371G>T (p.Gly791Cys)
c.2425G>T (p.Gly809Cys)
c.1129G>T (p.Gly377Cys)
c.2131G>T (p.Gly711Cys)
c.1105G>T (p.Gly369Cys)
 COSMIC COSMIC
9g.110800744dupCA198363734MUSKc.2366dup (p.Val790ArgfsTer20)
c.2108dup (p.Val704ArgfsTer20)
c.2342dup (p.Val782ArgfsTer20)
c.2078dup (p.Val694ArgfsTer20)
c.2396dup (p.Val800ArgfsTer20)
c.2372dup (p.Val792ArgfsTer20)
c.2426dup (p.Val810ArgfsTer20)
c.1130dup (p.Val378ArgfsTer20)
c.2132dup (p.Val712ArgfsTer20)
c.1106dup (p.Val370ArgfsTer20)
 dbSNP
9g.110800744G>ACA374479478MUSKc.2366G>A (p.Gly789Asp)
c.2108G>A (p.Gly703Asp)
c.2342G>A (p.Gly781Asp)
c.2078G>A (p.Gly693Asp)
c.2396G>A (p.Gly799Asp)
c.2372G>A (p.Gly791Asp)
c.2426G>A (p.Gly809Asp)
c.1130G>A (p.Gly377Asp)
c.2132G>A (p.Gly711Asp)
c.1106G>A (p.Gly369Asp)
9g.110800744G>CCA374479480MUSKc.2366G>C (p.Gly789Ala)
c.2108G>C (p.Gly703Ala)
c.2342G>C (p.Gly781Ala)
c.2078G>C (p.Gly693Ala)
c.2396G>C (p.Gly799Ala)
c.2372G>C (p.Gly791Ala)
c.2426G>C (p.Gly809Ala)
c.1130G>C (p.Gly377Ala)
c.2132G>C (p.Gly711Ala)
c.1106G>C (p.Gly369Ala)
 dbSNP gnomAD v2 gnomAD v4
9g.110800744G=CA1872205743MUSKc.2366G= (p.Gly789=)
c.2108G= (p.Gly703=)
c.2342G= (p.Gly781=)
c.2078G= (p.Gly693=)
c.2396G= (p.Gly799=)
c.2372G= (p.Gly791=)
c.2426G= (p.Gly809=)
c.1130G= (p.Gly377=)
c.2132G= (p.Gly711=)
c.1106G= (p.Gly369=)
9g.110800744G>TCA374479482MUSKc.2366G>T (p.Gly789Val)
c.2108G>T (p.Gly703Val)
c.2342G>T (p.Gly781Val)
c.2078G>T (p.Gly693Val)
c.2396G>T (p.Gly799Val)
c.2372G>T (p.Gly791Val)
c.2426G>T (p.Gly809Val)
c.1130G>T (p.Gly377Val)
c.2132G>T (p.Gly711Val)
c.1106G>T (p.Gly369Val)
9g.110800745C>ACA466901149MUSKc.2367C>A (p.Gly789=)
c.2109C>A (p.Gly703=)
c.2343C>A (p.Gly781=)
c.2079C>A (p.Gly693=)
c.2397C>A (p.Gly799=)
c.2373C>A (p.Gly791=)
c.2427C>A (p.Gly809=)
c.1131C>A (p.Gly377=)
c.2133C>A (p.Gly711=)
c.1107C>A (p.Gly369=)
 gnomAD v4
9g.110800745C=CA1872205744MUSKc.2367C= (p.Gly789=)
c.2109C= (p.Gly703=)
c.2343C= (p.Gly781=)
c.2079C= (p.Gly693=)
c.2397C= (p.Gly799=)
c.2373C= (p.Gly791=)
c.2427C= (p.Gly809=)
c.1131C= (p.Gly377=)
c.2133C= (p.Gly711=)
c.1107C= (p.Gly369=)
9g.110800745C>GCA466901150MUSKc.2367C>G (p.Gly789=)
c.2109C>G (p.Gly703=)
c.2343C>G (p.Gly781=)
c.2079C>G (p.Gly693=)
c.2397C>G (p.Gly799=)
c.2373C>G (p.Gly791=)
c.2427C>G (p.Gly809=)
c.1131C>G (p.Gly377=)
c.2133C>G (p.Gly711=)
c.1107C>G (p.Gly369=)
9g.110800745C>TCA5184617MUSKc.2367C>T (p.Gly789=)
c.2109C>T (p.Gly703=)
c.2343C>T (p.Gly781=)
c.2079C>T (p.Gly693=)
c.2397C>T (p.Gly799=)
c.2373C>T (p.Gly791=)
c.2427C>T (p.Gly809=)
c.1131C>T (p.Gly377=)
c.2133C>T (p.Gly711=)
c.1107C>T (p.Gly369=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800746G>ACA249734MUSKc.2368G>A (p.Val790Met)
c.2110G>A (p.Val704Met)
c.2344G>A (p.Val782Met)
c.2080G>A (p.Val694Met)
c.2398G>A (p.Val800Met)
c.2374G>A (p.Val792Met)
c.2428G>A (p.Val810Met)
c.1132G>A (p.Val378Met)
c.2134G>A (p.Val712Met)
c.1108G>A (p.Val370Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.110800746G>CCA374479486MUSKc.2368G>C (p.Val790Leu)
c.2110G>C (p.Val704Leu)
c.2344G>C (p.Val782Leu)
c.2080G>C (p.Val694Leu)
c.2398G>C (p.Val800Leu)
c.2374G>C (p.Val792Leu)
c.2428G>C (p.Val810Leu)
c.1132G>C (p.Val378Leu)
c.2134G>C (p.Val712Leu)
c.1108G>C (p.Val370Leu)
 dbSNP
9g.110800746G=CA1872205745MUSKc.2368G= (p.Val790=)
c.2110G= (p.Val704=)
c.2344G= (p.Val782=)
c.2080G= (p.Val694=)
c.2398G= (p.Val800=)
c.2374G= (p.Val792=)
c.2428G= (p.Val810=)
c.1132G= (p.Val378=)
c.2134G= (p.Val712=)
c.1108G= (p.Val370=)
9g.110800746G>TCA374479485MUSKc.2368G>T (p.Val790Leu)
c.2110G>T (p.Val704Leu)
c.2344G>T (p.Val782Leu)
c.2080G>T (p.Val694Leu)
c.2398G>T (p.Val800Leu)
c.2374G>T (p.Val792Leu)
c.2428G>T (p.Val810Leu)
c.1132G>T (p.Val378Leu)
c.2134G>T (p.Val712Leu)
c.1108G>T (p.Val370Leu)
9g.110800747T>ACA374479487MUSKc.2369T>A (p.Val790Glu)
c.2111T>A (p.Val704Glu)
c.2345T>A (p.Val782Glu)
c.2081T>A (p.Val694Glu)
c.2399T>A (p.Val800Glu)
c.2375T>A (p.Val792Glu)
c.2429T>A (p.Val810Glu)
c.1133T>A (p.Val378Glu)
c.2135T>A (p.Val712Glu)
c.1109T>A (p.Val370Glu)
9g.110800747T>CCA374479489MUSKc.2369T>C (p.Val790Ala)
c.2111T>C (p.Val704Ala)
c.2345T>C (p.Val782Ala)
c.2081T>C (p.Val694Ala)
c.2399T>C (p.Val800Ala)
c.2375T>C (p.Val792Ala)
c.2429T>C (p.Val810Ala)
c.1133T>C (p.Val378Ala)
c.2135T>C (p.Val712Ala)
c.1109T>C (p.Val370Ala)
9g.110800747T>GCA374479490MUSKc.2369T>G (p.Val790Gly)
c.2111T>G (p.Val704Gly)
c.2345T>G (p.Val782Gly)
c.2081T>G (p.Val694Gly)
c.2399T>G (p.Val800Gly)
c.2375T>G (p.Val792Gly)
c.2429T>G (p.Val810Gly)
c.1133T>G (p.Val378Gly)
c.2135T>G (p.Val712Gly)
c.1109T>G (p.Val370Gly)
9g.110800748G>ACA466901172MUSKc.2370G>A (p.Val790=)
c.2112G>A (p.Val704=)
c.2346G>A (p.Val782=)
c.2082G>A (p.Val694=)
c.2400G>A (p.Val800=)
c.2376G>A (p.Val792=)
c.2430G>A (p.Val810=)
c.1134G>A (p.Val378=)
c.2136G>A (p.Val712=)
c.1110G>A (p.Val370=)
9g.110800748G>CCA466901174MUSKc.2370G>C (p.Val790=)
c.2112G>C (p.Val704=)
c.2346G>C (p.Val782=)
c.2082G>C (p.Val694=)
c.2400G>C (p.Val800=)
c.2376G>C (p.Val792=)
c.2430G>C (p.Val810=)
c.1134G>C (p.Val378=)
c.2136G>C (p.Val712=)
c.1110G>C (p.Val370=)
9g.110800748G>TCA466901175MUSKc.2370G>T (p.Val790=)
c.2112G>T (p.Val704=)
c.2346G>T (p.Val782=)
c.2082G>T (p.Val694=)
c.2400G>T (p.Val800=)
c.2376G>T (p.Val792=)
c.2430G>T (p.Val810=)
c.1134G>T (p.Val378=)
c.2136G>T (p.Val712=)
c.1110G>T (p.Val370=)
9g.110800749G>ACA374479492MUSKc.2371G>A (p.Val791Ile)
c.2113G>A (p.Val705Ile)
c.2347G>A (p.Val783Ile)
c.2083G>A (p.Val695Ile)
c.2401G>A (p.Val801Ile)
c.2377G>A (p.Val793Ile)
c.2431G>A (p.Val811Ile)
c.1135G>A (p.Val379Ile)
c.2137G>A (p.Val713Ile)
c.1111G>A (p.Val371Ile)
9g.110800749G>CCA374479494MUSKc.2371G>C (p.Val791Leu)
c.2113G>C (p.Val705Leu)
c.2347G>C (p.Val783Leu)
c.2083G>C (p.Val695Leu)
c.2401G>C (p.Val801Leu)
c.2377G>C (p.Val793Leu)
c.2431G>C (p.Val811Leu)
c.1135G>C (p.Val379Leu)
c.2137G>C (p.Val713Leu)
c.1111G>C (p.Val371Leu)
9g.110800749G>TCA374479496MUSKc.2371G>T (p.Val791Phe)
c.2113G>T (p.Val705Phe)
c.2347G>T (p.Val783Phe)
c.2083G>T (p.Val695Phe)
c.2401G>T (p.Val801Phe)
c.2377G>T (p.Val793Phe)
c.2431G>T (p.Val811Phe)
c.1135G>T (p.Val379Phe)
c.2137G>T (p.Val713Phe)
c.1111G>T (p.Val371Phe)
9g.110800750T>ACA374479499MUSKc.2372T>A (p.Val791Asp)
c.2114T>A (p.Val705Asp)
c.2348T>A (p.Val783Asp)
c.2084T>A (p.Val695Asp)
c.2402T>A (p.Val801Asp)
c.2378T>A (p.Val793Asp)
c.2432T>A (p.Val811Asp)
c.1136T>A (p.Val379Asp)
c.2138T>A (p.Val713Asp)
c.1112T>A (p.Val371Asp)
9g.110800750T>CCA374479498MUSKc.2372T>C (p.Val791Ala)
c.2114T>C (p.Val705Ala)
c.2348T>C (p.Val783Ala)
c.2084T>C (p.Val695Ala)
c.2402T>C (p.Val801Ala)
c.2378T>C (p.Val793Ala)
c.2432T>C (p.Val811Ala)
c.1136T>C (p.Val379Ala)
c.2138T>C (p.Val713Ala)
c.1112T>C (p.Val371Ala)
9g.110800750T>GCA374479497MUSKc.2372T>G (p.Val791Gly)
c.2114T>G (p.Val705Gly)
c.2348T>G (p.Val783Gly)
c.2084T>G (p.Val695Gly)
c.2402T>G (p.Val801Gly)
c.2378T>G (p.Val793Gly)
c.2432T>G (p.Val811Gly)
c.1136T>G (p.Val379Gly)
c.2138T>G (p.Val713Gly)
c.1112T>G (p.Val371Gly)
9g.110800751C>ACA466901186MUSKc.2373C>A (p.Val791=)
c.2115C>A (p.Val705=)
c.2349C>A (p.Val783=)
c.2085C>A (p.Val695=)
c.2403C>A (p.Val801=)
c.2379C>A (p.Val793=)
c.2433C>A (p.Val811=)
c.1137C>A (p.Val379=)
c.2139C>A (p.Val713=)
c.1113C>A (p.Val371=)
 COSMIC
9g.110800751C>GCA466901188MUSKc.2373C>G (p.Val791=)
c.2115C>G (p.Val705=)
c.2349C>G (p.Val783=)
c.2085C>G (p.Val695=)
c.2403C>G (p.Val801=)
c.2379C>G (p.Val793=)
c.2433C>G (p.Val811=)
c.1137C>G (p.Val379=)
c.2139C>G (p.Val713=)
c.1113C>G (p.Val371=)
9g.110800751C>TCA466901191MUSKc.2373C>T (p.Val791=)
c.2115C>T (p.Val705=)
c.2349C>T (p.Val783=)
c.2085C>T (p.Val695=)
c.2403C>T (p.Val801=)
c.2379C>T (p.Val793=)
c.2433C>T (p.Val811=)
c.1137C>T (p.Val379=)
c.2139C>T (p.Val713=)
c.1113C>T (p.Val371=)
9g.110800752C>ACA374479502MUSKc.2374C>A (p.Leu792Ile)
c.2116C>A (p.Leu706Ile)
c.2350C>A (p.Leu784Ile)
c.2086C>A (p.Leu696Ile)
c.2404C>A (p.Leu802Ile)
c.2380C>A (p.Leu794Ile)
c.2434C>A (p.Leu812Ile)
c.1138C>A (p.Leu380Ile)
c.2140C>A (p.Leu714Ile)
c.1114C>A (p.Leu372Ile)
9g.110800752C=CA1872205746MUSKc.2374C= (p.Leu792=)
c.2116C= (p.Leu706=)
c.2350C= (p.Leu784=)
c.2086C= (p.Leu696=)
c.2404C= (p.Leu802=)
c.2380C= (p.Leu794=)
c.2434C= (p.Leu812=)
c.1138C= (p.Leu380=)
c.2140C= (p.Leu714=)
c.1114C= (p.Leu372=)
9g.110800752C>GCA374479505MUSKc.2374C>G (p.Leu792Val)
c.2116C>G (p.Leu706Val)
c.2350C>G (p.Leu784Val)
c.2086C>G (p.Leu696Val)
c.2404C>G (p.Leu802Val)
c.2380C>G (p.Leu794Val)
c.2434C>G (p.Leu812Val)
c.1138C>G (p.Leu380Val)
c.2140C>G (p.Leu714Val)
c.1114C>G (p.Leu372Val)
 gnomAD v4
9g.110800752C>TCA374479504MUSKc.2374C>T (p.Leu792Phe)
c.2116C>T (p.Leu706Phe)
c.2350C>T (p.Leu784Phe)
c.2086C>T (p.Leu696Phe)
c.2404C>T (p.Leu802Phe)
c.2380C>T (p.Leu794Phe)
c.2434C>T (p.Leu812Phe)
c.1138C>T (p.Leu380Phe)
c.2140C>T (p.Leu714Phe)
c.1114C>T (p.Leu372Phe)
 dbSNP gnomAD v4
9g.110800753T>ACA374479506MUSKc.2375T>A (p.Leu792His)
c.2117T>A (p.Leu706His)
c.2351T>A (p.Leu784His)
c.2087T>A (p.Leu696His)
c.2405T>A (p.Leu802His)
c.2381T>A (p.Leu794His)
c.2435T>A (p.Leu812His)
c.1139T>A (p.Leu380His)
c.2141T>A (p.Leu714His)
c.1115T>A (p.Leu372His)
9g.110800753T>CCA374479509MUSKc.2375T>C (p.Leu792Pro)
c.2117T>C (p.Leu706Pro)
c.2351T>C (p.Leu784Pro)
c.2087T>C (p.Leu696Pro)
c.2405T>C (p.Leu802Pro)
c.2381T>C (p.Leu794Pro)
c.2435T>C (p.Leu812Pro)
c.1139T>C (p.Leu380Pro)
c.2141T>C (p.Leu714Pro)
c.1115T>C (p.Leu372Pro)
 gnomAD v4
9g.110800753T>GCA374479507MUSKc.2375T>G (p.Leu792Arg)
c.2117T>G (p.Leu706Arg)
c.2351T>G (p.Leu784Arg)
c.2087T>G (p.Leu696Arg)
c.2405T>G (p.Leu802Arg)
c.2381T>G (p.Leu794Arg)
c.2435T>G (p.Leu812Arg)
c.1139T>G (p.Leu380Arg)
c.2141T>G (p.Leu714Arg)
c.1115T>G (p.Leu372Arg)

Number of alleles fetched