List of variants studied for hereditary skeletal muscle disorder by Neuberg Centre For Genomic Medicine, NCGM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 432

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HGVS	dbSNP	gnomAD frequency
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)	rs17602729	0.08701
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)	rs72648247	0.00184
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)	rs137854523	0.00098
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	rs113994097	0.00081
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr)	rs200237973	0.00029
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu)	rs752492870	0.00023
NM_001849.4(COL6A2):c.2893C>T (p.Arg965Cys)	rs201188174	0.00021
NM_000426.4(LAMA2):c.6322C>T (p.Arg2108Trp)	rs139824017	0.00012
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)	rs137854526	0.00010
NM_017739.4(POMGNT1):c.1285-6C>T	rs377292905	0.00009
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)	rs121434548	0.00006
NM_000540.3(RYR1):c.3389G>A (p.Arg1130His)	rs371498385	0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr)	rs375626634	0.00006
NM_001130987.2(DYSF):c.2011G>A (p.Gly671Ser)	rs538170367	0.00006
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)	rs121908958	0.00006
NM_001164508.2(NEB):c.3255+1G>A	rs375628303	0.00006
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)	rs200379491	0.00005
NM_000426.4(LAMA2):c.1084A>T (p.Arg362Ter)	rs191912891	0.00005
NM_000426.4(LAMA2):c.1085G>T (p.Arg362Ile)	rs182958473	0.00005
NM_000426.4(LAMA2):c.5562+1G>A	rs376014152	0.00005
NM_018116.4(MSTO1):c.22G>A (p.Val8Met)	rs762798018	0.00005
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)	rs199806879	0.00004
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)	rs121913572	0.00004
NM_000540.3(RYR1):c.11778+3G>C	rs758215068	0.00004
NM_001164508.2(NEB):c.21417+3A>G	rs148950085	0.00004
NM_001849.4(COL6A2):c.2627G>A (p.Arg876His)	rs1012567148	0.00004
NM_002693.3(POLG):c.2509T>C (p.Tyr837His)	rs544828395	0.00004
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val)	rs766488017	0.00004
NM_000023.4(SGCA):c.293G>A (p.Arg98His)	rs137852621	0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)	rs768814872	0.00003
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)	rs557164942	0.00003
NM_000285.4(PEPD):c.825del (p.Phe275fs)	rs750548522	0.00003
NM_000334.4(SCN4A):c.4201G>A (p.Val1401Met)	rs572380012	0.00003
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)	rs747349942	0.00003
NM_001103.4(ACTN2):c.983G>A (p.Arg328Gln)	rs774046373	0.00003
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter)	rs727503911	0.00003
NM_001267550.2(TTN):c.77185A>T (p.Lys25729Ter)	rs542074139	0.00003
NM_001849.4(COL6A2):c.2158C>T (p.Arg720Cys)	rs748592288	0.00003
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp)	rs373072443	0.00003
NM_004369.4(COL6A3):c.8201G>A (p.Arg2734Gln)	rs115116398	0.00003
NM_004370.6(COL12A1):c.3785T>C (p.Leu1262Ser)	rs774035582	0.00003
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp)	rs104894371	0.00003
NM_201384.3(PLEC):c.7514G>A (p.Arg2505Gln)	rs782664854	0.00003
NM_000023.4(SGCA):c.242G>A (p.Arg81His)	rs747984529	0.00002
NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys)	rs80338778	0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)	rs587780290	0.00002
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe)	rs762412447	0.00002
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter)	rs758775001	0.00002
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val)	rs193922791	0.00002
NM_001849.4(COL6A2):c.1051C>T (p.Arg351Trp)	rs531146637	0.00002
NM_001849.4(COL6A2):c.790C>T (p.Arg264Cys)	rs760263812	0.00002
NM_001927.4(DES):c.639G>A (p.Ala213=)	rs377337947	0.00002
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)	rs748949603	0.00002
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)	rs776384541	0.00002
NM_005476.7(GNE):c.829C>T (p.Arg277Cys)	rs762106720	0.00002
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys)	rs150736997	0.00002
NM_000023.4(SGCA):c.131C>T (p.Thr44Met)	rs770516658	0.00001
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)	rs759692350	0.00001
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)	rs863224956	0.00001
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly)	rs750083132	0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)	rs778768583	0.00001
NM_000070.3(CAPN3):c.769G>A (p.Glu257Lys)	rs1368398872	0.00001
NM_000231.3(SGCG):c.392A>G (p.Lys131Arg)	rs544414698	0.00001
NM_000232.5(SGCB):c.1A>G (p.Met1Val)	rs398123262	0.00001
NM_000232.5(SGCB):c.265G>A (p.Val89Met)	rs762652676	0.00001
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro)	rs751427686	0.00001
NM_000232.5(SGCB):c.621+1G>T	rs1264362642	0.00001
NM_000426.4(LAMA2):c.3956G>A (p.Arg1319Gln)	rs780356271	0.00001
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter)	rs398123383	0.00001
NM_000540.3(RYR1):c.10582A>G (p.Thr3528Ala)	rs562359442	0.00001
NM_000540.3(RYR1):c.7215-3C>T	rs1190472871	0.00001
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg)	rs756331568	0.00001
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)	rs119463990	0.00001
NM_001080449.3(DNA2):c.593G>A (p.Arg198His)	rs1272393477	0.00001
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)	rs377735262	0.00001
NM_001130987.2(DYSF):c.3160A>G (p.Thr1054Ala)	rs550721009	0.00001
NM_001130987.2(DYSF):c.460+1G>A	rs1278864604	0.00001
NM_001164508.2(NEB):c.9535C>A (p.Pro3179Thr)	rs754263826	0.00001
NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter)	rs974671846	0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)	rs753334568	0.00001
NM_001849.4(COL6A2):c.2137C>T (p.Arg713Cys)	rs139627965	0.00001
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala)	rs1354582663	0.00001
NM_002936.6(RNASEH1):c.424G>A (p.Val142Ile)	rs766294940	0.00001
NM_003000.3(SDHB):c.749C>T (p.Thr250Ile)	rs1057517537	0.00001
NM_004006.3(DMD):c.2472C>G (p.Asn824Lys)	rs778811645	0.00001
NM_004370.6(COL12A1):c.6859A>G (p.Lys2287Glu)	rs775646975	0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr)	rs757091387	0.00001
NM_016532.4(INPP5K):c.67G>A (p.Val23Met)	rs750781027	0.00001
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)	rs762972459	0.00001
NM_017739.4(POMGNT1):c.908C>T (p.Pro303Leu)	rs753453050	0.00001
NM_024334.3(TMEM43):c.700C>T (p.Pro234Ser)	rs374202326	0.00001
NM_025152.3(NUBPL):c.2T>C (p.Met1Thr)	rs567437692	0.00001
NM_152263.4(TPM3):c.832G>A (p.Ala278Thr)	rs377438824	0.00001
NM_182914.3(SYNE2):c.13826A>C (p.Asn4609Thr)	rs751525888	0.00001
NM_182914.3(SYNE2):c.20284T>C (p.Cys6762Arg)	rs1444525177	0.00001
NM_182961.4(SYNE1):c.9577G>A (p.Glu3193Lys)	rs761121679	0.00001
NM_201384.3(PLEC):c.7132A>G (p.Met2378Val)	rs79121794	0.00001
NM_000023.4(SGCA):c.37+1G>A
NM_000023.4(SGCA):c.37+6T>C	rs751466815
NM_000036.3(AMPD1):c.323C>T (p.Thr108Ile)	rs547487220
NM_000070.3(CAPN3):c.1183G>A (p.Gly395Arg)	rs1595831427
NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs)	rs1293496023
NM_000070.3(CAPN3):c.1502C>T (p.Thr501Ile)	rs751104396
NM_000070.3(CAPN3):c.1743dup (p.Glu582Ter)
NM_000070.3(CAPN3):c.1910dup (p.Gln638fs)
NM_000070.3(CAPN3):c.1914G>A (p.Gln638=)
NM_000070.3(CAPN3):c.2051-1G>T	rs886042108
NM_000070.3(CAPN3):c.2235C>G (p.Tyr745Ter)
NM_000070.3(CAPN3):c.2302A>G (p.Met768Val)
NM_000070.3(CAPN3):c.2319dup (p.His774fs)
NM_000070.3(CAPN3):c.2333_2336dup (p.Phe779fs)
NM_000070.3(CAPN3):c.2387T>C (p.Phe796Ser)
NM_000070.3(CAPN3):c.304C>T (p.Pro102Ser)	rs2141102957
NM_000070.3(CAPN3):c.358G>A (p.Asp120Asn)	rs765935351
NM_000070.3(CAPN3):c.430C>T (p.Leu144Phe)
NM_000070.3(CAPN3):c.632A>G (p.Lys211Arg)
NM_000070.3(CAPN3):c.689A>G (p.Asp230Gly)	rs1555420629
NM_000070.3(CAPN3):c.728_762dup (p.Ala255delinsMetLeuLeuValThrCysThrArgSerTer)
NM_000070.3(CAPN3):c.793T>C (p.Ser265Pro)	rs2053485355
NM_000117.3(EMD):c.282C>G (p.Tyr94Ter)
NM_000117.3(EMD):c.512C>G (p.Ser171Ter)
NM_000231.3(SGCG):c.284T>G (p.Ile95Arg)
NM_000231.3(SGCG):c.284_287del (p.Ile95fs)
NM_000231.3(SGCG):c.449T>C (p.Leu150Pro)
NM_000231.3(SGCG):c.786C>G (p.Tyr262Ter)
NM_000231.3(SGCG):c.92G>A (p.Trp31Ter)
NM_000232.5(SGCB):c.2T>C (p.Met1Thr)	rs1737457235
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter)	rs750773622
NM_000232.5(SGCB):c.33+2T>A	rs2109380796
NM_000232.5(SGCB):c.404T>G (p.Leu135Trp)
NM_000232.5(SGCB):c.82_86del (p.Glu28fs)	rs1553940687
NM_000252.3(MTM1):c.141_144del	rs587783791
NM_000257.4(MYH7):c.2335G>A (p.Glu779Lys)	rs1427104281
NM_000257.4(MYH7):c.2869C>A (p.Leu957Met)
NM_000257.4(MYH7):c.3721G>T (p.Ala1241Ser)	rs757538583
NM_000334.4(SCN4A):c.1534A>G (p.Thr512Ala)
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu)	rs80338792
NM_000334.4(SCN4A):c.4784C>G (p.Ala1595Gly)
NM_000426.4(LAMA2):c.1199C>G (p.Pro400Arg)
NM_000426.4(LAMA2):c.1749C>G (p.Tyr583Ter)
NM_000426.4(LAMA2):c.176G>A (p.Gly59Glu)	rs748303070
NM_000426.4(LAMA2):c.1823_1824del (p.Ser607_Tyr608insTer)
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs)	rs746844753
NM_000426.4(LAMA2):c.2585G>A (p.Cys862Tyr)
NM_000426.4(LAMA2):c.2749+4_2749+15del
NM_000426.4(LAMA2):c.29T>A (p.Leu10His)
NM_000426.4(LAMA2):c.3924+1G>A
NM_000426.4(LAMA2):c.5708C>G (p.Ser1903Ter)
NM_000426.4(LAMA2):c.5838del (p.Asp1947fs)
NM_000426.4(LAMA2):c.5866-1G>A	rs1064797040
NM_000426.4(LAMA2):c.7040G>T (p.Gly2347Val)	rs529981007
NM_000426.4(LAMA2):c.781A>G (p.Lys261Glu)
NM_000426.4(LAMA2):c.8569C>T (p.Gln2857Ter)
NM_000426.4(LAMA2):c.9223C>T (p.Gln3075Ter)	rs771012835
NM_000432.4(MYL2):c.51_61del (p.Phe18fs)	rs754744244
NM_000540.3(RYR1):c.10561G>A (p.Gly3521Ser)
NM_000540.3(RYR1):c.11308C>G (p.His3770Asp)
NM_000540.3(RYR1):c.11990A>G (p.His3997Arg)
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)	rs794728696
NM_000540.3(RYR1):c.12590_12591del (p.Ile4196_Ser4197insTer)
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)	rs193922748
NM_000540.3(RYR1):c.13565C>A (p.Pro4522His)	rs145167688
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp)	rs753208767
NM_000540.3(RYR1):c.1384G>A (p.Glu462Lys)	rs199592055
NM_000540.3(RYR1):c.13858G>A (p.Ala4620Thr)
NM_000540.3(RYR1):c.13952A>C (p.His4651Pro)	rs118192139
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)	rs118192181
NM_000540.3(RYR1):c.14594A>G (p.Asn4865Ser)
NM_000540.3(RYR1):c.14624T>A (p.Met4875Lys)
NM_000540.3(RYR1):c.14740A>G (p.Arg4914Gly)	rs118192184
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)	rs1064794572
NM_000540.3(RYR1):c.1888C>G (p.Leu630Val)	rs2145406736
NM_000540.3(RYR1):c.2065G>T (p.Glu689Ter)
NM_000540.3(RYR1):c.2172C>G (p.His724Gln)
NM_000540.3(RYR1):c.24C>A (p.Asp8Glu)	rs1331891798
NM_000540.3(RYR1):c.3149A>G (p.Tyr1050Cys)
NM_000540.3(RYR1):c.334C>T (p.His112Tyr)
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp)	rs559581937
NM_000540.3(RYR1):c.4582T>A (p.Phe1528Ile)
NM_000540.3(RYR1):c.5227G>A (p.Ala1743Thr)
NM_000540.3(RYR1):c.6340C>A (p.Pro2114Thr)
NM_000540.3(RYR1):c.6806dup (p.Ser2270fs)	rs886041380
NM_000540.3(RYR1):c.7841T>G (p.Ile2614Ser)
NM_000540.3(RYR1):c.8557G>A (p.Glu2853Lys)
NM_000540.3(RYR1):c.8953C>T (p.Arg2985Ter)
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln)	rs121909089
NM_001005361.3(DNM2):c.161G>A (p.Arg54Gln)
NM_001040436.3(YARS2):c.514G>A (p.Asp172Asn)
NM_001042631.3(SDHAF1):c.43T>G (p.Tyr15Asp)
NM_001077365.2(POMT1):c.110C>T (p.Pro37Leu)
NM_001077365.2(POMT1):c.274G>A (p.Gly92Arg)	rs2131592403
NM_001079802.2(FKTN):c.1256T>A (p.Ile419Asn)
NM_001079802.2(FKTN):c.1271G>T (p.Gly424Val)
NM_001079802.2(FKTN):c.165+5G>A	rs2132596368
NM_001100.4(ACTA1):c.299C>A (p.Pro100His)
NM_001100.4(ACTA1):c.3G>C (p.Met1Ile)
NM_001101362.3(KBTBD13):c.212C>A (p.Ala71Glu)
NM_001101362.3(KBTBD13):c.477del (p.Ala159_Val160insTer)	rs1555407608
NM_001101362.3(KBTBD13):c.496G>C (p.Ala166Pro)	rs777916743
NM_001101426.4(CRPPA):c.509T>G (p.Val170Gly)
NM_001130987.2(DYSF):c.1033+2T>C	rs886042617
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg)	rs766891289
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg)	rs766891289
NM_001130987.2(DYSF):c.1156A>T (p.Arg386Ter)
NM_001130987.2(DYSF):c.1258del (p.Ala420fs)	rs779969348
NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys)	rs778673716
NM_001130987.2(DYSF):c.1267_1276+4dup	rs1573744795
NM_001130987.2(DYSF):c.1330A>T (p.Lys444Ter)	rs2152751290
NM_001130987.2(DYSF):c.2697+5G>A	rs2092213253
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp)	rs1553556116
NM_001130987.2(DYSF):c.3173_3177del (p.Arg1058fs)
NM_001130987.2(DYSF):c.3322CGC[1] (p.Arg1109_Arg1111del)
NM_001130987.2(DYSF):c.3381_3382del (p.Phe1128fs)	rs398123780
NM_001130987.2(DYSF):c.362A>C (p.Gln121Pro)
NM_001130987.2(DYSF):c.3646A>G (p.Thr1216Ala)
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs)	rs398123786
NM_001130987.2(DYSF):c.4550G>A (p.Trp1517Ter)
NM_001130987.2(DYSF):c.4911G>A (p.Lys1637=)	rs141704244
NM_001130987.2(DYSF):c.5183C>T (p.Pro1728Leu)
NM_001130987.2(DYSF):c.5265_5280del (p.Val1754_Tyr1755insTer)
NM_001130987.2(DYSF):c.5719A>G (p.Asn1907Asp)
NM_001130987.2(DYSF):c.5757del (p.Glu1920fs)	rs1573100371
NM_001130987.2(DYSF):c.888+1G>A	rs886044377
NM_001130987.2(DYSF):c.952-3C>G
NM_001130987.2(DYSF):c.982del (p.Ala328fs)
NM_001161403.3(LIMS2):c.238+1G>T
NM_001164508.2(NEB):c.11077-1G>A	rs1458096844
NM_001164508.2(NEB):c.1675-1G>C
NM_001164508.2(NEB):c.17777del (p.Gly5926fs)
NM_001164508.2(NEB):c.24389G>C (p.Ser8130Thr)	rs2152954710
NM_001164508.2(NEB):c.24873+2T>C
NM_001164508.2(NEB):c.24989G>A (p.Arg8330Gln)
NM_001164508.2(NEB):c.4100A>T (p.Asp1367Val)
NM_001164508.2(NEB):c.4412A>C (p.Lys1471Thr)
NM_001164508.2(NEB):c.6562G>T (p.Glu2188Ter)
NM_001164508.2(NEB):c.7345C>T (p.Gln2449Ter)	rs2154134234
NM_001164508.2(NEB):c.8161C>T (p.Arg2721Cys)	rs570763682
NM_001195518.2(MICU1):c.1072-1G>C	rs754639936
NM_001195518.2(MICU1):c.88C>T (p.Arg30Trp)
NM_001256545.2(MEGF10):c.268C>T (p.Arg90Cys)
NM_001256545.2(MEGF10):c.484C>G (p.Pro162Ala)
NM_001267550.2(TTN):c.105804_105805del (p.Glu35268fs)
NM_001267550.2(TTN):c.25063+1G>A	rs754247415
NM_001267550.2(TTN):c.31433C>G (p.Ala10478Gly)
NM_001267550.2(TTN):c.33994G>A (p.Val11332Met)
NM_001267550.2(TTN):c.3695A>T (p.Asp1232Val)	rs576019235
NM_001267550.2(TTN):c.41391_41393del (p.Leu13798del)
NM_001267550.2(TTN):c.53526del (p.Lys17842fs)	rs2154196732
NM_001267550.2(TTN):c.64187C>G (p.Ala21396Gly)
NM_001267550.2(TTN):c.68555A>T (p.Asn22852Ile)
NM_001267550.2(TTN):c.71249C>T (p.Pro23750Leu)
NM_001267550.2(TTN):c.87781C>T (p.Pro29261Ser)
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)	rs869320740
NM_001363810.1(VMA21):c.59G>A (p.Cys20Tyr)
NM_001382567.1(STIM1):c.661G>A (p.Val221Ile)
NM_001458.5(FLNC):c.71C>A (p.Thr24Lys)	rs1251048006
NM_001458.5(FLNC):c.8049C>G (p.Tyr2683Ter)
NM_001848.3(COL6A1):c.1056+2T>A
NM_001848.3(COL6A1):c.1641_1642del (p.Asp548fs)	rs1569518771
NM_001848.3(COL6A1):c.1740+5G>A
NM_001848.3(COL6A1):c.1769G>A (p.Gly590Glu)
NM_001848.3(COL6A1):c.211G>A (p.Asp71Asn)
NM_001848.3(COL6A1):c.930+1G>T	rs886042902
NM_001849.4(COL6A2):c.1179+1G>T
NM_001849.4(COL6A2):c.1572+1G>A	rs1057520717
NM_001849.4(COL6A2):c.167G>A (p.Ser56Asn)	rs1555871311
NM_001849.4(COL6A2):c.1817-2A>C
NM_001849.4(COL6A2):c.1821_1822del (p.Cys607_Glu608delinsTer)
NM_001849.4(COL6A2):c.2267_2272del (p.Ala756_Ile757del)
NM_001849.4(COL6A2):c.2519G>A (p.Gly840Asp)	rs2123454544
NM_001849.4(COL6A2):c.2741_2743del (p.Phe914del)	rs746930351
NM_001849.4(COL6A2):c.900+2T>G
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)	rs121913003
NM_001927.4(DES):c.1255C>T (p.Pro419Ser)	rs62635763
NM_001927.4(DES):c.735G>C (p.Glu245Asp)	rs267607486
NM_001953.5(TYMP):c.454G>T (p.Gly152Ter)
NM_002137.4(HNRNPA2B1):c.476-4C>A
NM_002137.4(HNRNPA2B1):c.928GGT[1] (p.Gly311del)	rs776731510
NM_002226.5(JAG2):c.2369C>G (p.Thr790Ser)
NM_002465.4(MYBPC1):c.608+5C>T
NM_002478.5(MYOD1):c.468T>A (p.Tyr156Ter)
NM_002495.4(NDUFS4):c.351-2A>G
NM_002693.3(POLG):c.3488T>A (p.Met1163Lys)
NM_002936.6(RNASEH1):c.526C>T (p.Leu176Phe)
NM_003172.4(SURF1):c.758_759del (p.Thr253fs)	rs782349178
NM_003283.6(TNNT1):c.32+1G>A
NM_003283.6(TNNT1):c.742A>T (p.Lys248Ter)
NM_003289.4(TPM2):c.144G>T (p.Lys48Asn)
NM_003289.4(TPM2):c.784G>T (p.Ala262Ser)
NM_003673.4(TCAP):c.14_15del (p.Glu5fs)	rs757082868
NM_003673.4(TCAP):c.90_91del (p.Ser31fs)	rs1555606976
NM_003900.5(SQSTM1):c.970del	rs758377403
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter)	rs104894790
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter)	rs398123832
NM_004006.3(DMD):c.1663C>T (p.Gln555Ter)	rs863224983
NM_004006.3(DMD):c.2168+1G>A	rs1057518207
NM_004006.3(DMD):c.2292+1G>A
NM_004006.3(DMD):c.2366A>G (p.Glu789Gly)
NM_004006.3(DMD):c.2933_2934del (p.Arg978fs)	rs794727359
NM_004006.3(DMD):c.354G>A (p.Trp118Ter)	rs2148849959
NM_004006.3(DMD):c.3603+2dup	rs796523999
NM_004006.3(DMD):c.3774C>A (p.Cys1258Ter)	rs1569562933
NM_004006.3(DMD):c.378dup (p.Ile127fs)
NM_004006.3(DMD):c.4053G>A (p.Trp1351Ter)
NM_004006.3(DMD):c.464A>G (p.Asn155Ser)	rs2148806581
NM_004006.3(DMD):c.4684del (p.Arg1562fs)	rs2147473202
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter)	rs398123973
NM_004006.3(DMD):c.5012T>G (p.Leu1671Ter)
NM_004006.3(DMD):c.5260G>A (p.Glu1754Lys)
NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter)	rs1569559204
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter)	rs1064325
NM_004006.3(DMD):c.5574_5575del (p.His1858fs)
NM_004006.3(DMD):c.5985T>G (p.Tyr1995Ter)	rs128627257
NM_004006.3(DMD):c.607G>C (p.Ala203Pro)
NM_004006.3(DMD):c.631A>T (p.Lys211Ter)	rs2148750714
NM_004006.3(DMD):c.6438+1G>A
NM_004006.3(DMD):c.6696C>G (p.Asn2232Lys)	rs886043675
NM_004006.3(DMD):c.7569_7571delinsTT (p.Arg2523fs)
NM_004006.3(DMD):c.7705C>T (p.Gln2569Ter)	rs1603445344
NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter)	rs863225011
NM_004006.3(DMD):c.811C>T (p.Gln271Ter)	rs2063890662
NM_004006.3(DMD):c.917A>C (p.Tyr306Ser)	rs2147581077
NM_004006.3(DMD):c.9361+1G>A	rs398124094
NM_004006.3(DMD):c.9888del (p.Val3297fs)
NM_004168.4(SDHA):c.1945_1946del (p.Leu649fs)	rs112307877
NM_004281.4(BAG3):c.1408C>T (p.Pro470Ser)	rs756020699
NM_004281.4(BAG3):c.30G>A (p.Met10Ile)	rs1275338906
NM_004281.4(BAG3):c.574G>T (p.Gly192Cys)	rs201487919
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu)	rs121918312
NM_004369.4(COL6A3):c.1012G>A (p.Gly338Arg)
NM_004369.4(COL6A3):c.120A>G (p.Ile40Met)
NM_004369.4(COL6A3):c.3502G>A (p.Gly1168Arg)
NM_004369.4(COL6A3):c.4282C>T (p.Pro1428Ser)
NM_004369.4(COL6A3):c.5149G>A (p.Ala1717Thr)
NM_004369.4(COL6A3):c.5243T>G (p.Phe1748Cys)
NM_004369.4(COL6A3):c.5590G>A (p.Ala1864Thr)	rs756521643
NM_004369.4(COL6A3):c.6310-2A>G	rs1559225993
NM_004369.4(COL6A3):c.9047dup (p.Pro3017fs)
NM_004370.6(COL12A1):c.2594C>G (p.Thr865Arg)
NM_004370.6(COL12A1):c.2726A>C (p.Gln909Pro)
NM_004370.6(COL12A1):c.3812A>G (p.Tyr1271Cys)
NM_004370.6(COL12A1):c.427T>A (p.Phe143Ile)
NM_004370.6(COL12A1):c.7124A>T (p.Glu2375Val)	rs2149366807
NM_004370.6(COL12A1):c.748G>A (p.Asp250Asn)
NM_004370.6(COL12A1):c.7883G>A (p.Gly2628Asp)
NM_004393.6(DAG1):c.41C>T (p.Ser14Leu)
NM_005198.5(CHKB):c.1032-2A>T
NM_005198.5(CHKB):c.150C>A (p.Tyr50Ter)
NM_005198.5(CHKB):c.880C>G (p.Pro294Ala)
NM_005476.7(GNE):c.1655A>G (p.His552Arg)
NM_005476.7(GNE):c.1768T>A (p.Tyr590Asn)
NM_005476.7(GNE):c.1982A>G (p.Asn661Ser)	rs765173992
NM_005476.7(GNE):c.2086G>A (p.Val696Met)	rs121908627
NM_005476.7(GNE):c.392T>C (p.Leu131Pro)
NM_005476.7(GNE):c.4G>T (p.Glu2Ter)	rs886044514
NM_005476.7(GNE):c.605G>C (p.Arg202Pro)
NM_005476.7(GNE):c.878A>G (p.His293Arg)
NM_005876.5(SPEG):c.5708G>A (p.Arg1903Gln)
NM_005876.5(SPEG):c.8290G>C (p.Glu2764Gln)
NM_005876.5(SPEG):c.9134G>A (p.Arg3045Gln)
NM_006790.3(MYOT):c.167C>T (p.Ser56Leu)
NM_006790.3(MYOT):c.212C>G (p.Ala71Gly)
NM_007078.3(LDB3):c.182C>T (p.Thr61Ile)
NM_007215.4(POLG2):c.1060T>C (p.Phe354Leu)
NM_007215.4(POLG2):c.1110+2T>A
NM_007215.4(POLG2):c.770G>A (p.Arg257His)
NM_012470.4(TNPO3):c.2142A>T (p.Glu714Asp)
NM_012470.4(TNPO3):c.2430+1G>A
NM_013382.7(POMT2):c.1184-1G>C
NM_013382.7(POMT2):c.247T>A (p.Cys83Ser)
NM_014254.3(RXYLT1):c.760G>A (p.Val254Met)
NM_015602.4(TOR1AIP1):c.797-2A>G
NM_017534.6(MYH2):c.1410T>G (p.Ile470Met)
NM_017534.6(MYH2):c.1792G>A (p.Glu598Lys)	rs1555571267
NM_017534.6(MYH2):c.2488G>A (p.Val830Ile)
NM_017739.4(POMGNT1):c.1607T>C (p.Leu536Pro)
NM_017739.4(POMGNT1):c.1742T>C (p.Met581Thr)
NM_017739.4(POMGNT1):c.49A>T (p.Lys17Ter)
NM_017739.4(POMGNT1):c.617G>A (p.Trp206Ter)	rs1156647434
NM_018116.4(MSTO1):c.1547T>C (p.Leu516Pro)
NM_018684.4(ZC4H2):c.218_220del (p.Ile73del)
NM_018684.4(ZC4H2):c.269T>C (p.Leu90Pro)
NM_018684.4(ZC4H2):c.406G>A (p.Glu136Lys)
NM_018684.4(ZC4H2):c.527C>T (p.Thr176Met)
NM_018834.6(MATR3):c.734A>T (p.Lys245Ile)
NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln)	rs779162837
NM_020451.3(SELENON):c.1446del (p.Asn483fs)	rs2124454648
NM_020451.3(SELENON):c.249_250dup (p.Asp84fs)	rs1553198611
NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer)	rs797045950
NM_020451.3(SELENON):c.843C>G (p.Ile281Met)
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn)	rs397509422
NM_021971.4(GMPPB):c.297G>C (p.Glu99Asp)
NM_024301.5(FKRP):c.679G>C (p.Ala227Pro)	rs775681117
NM_024854.5(PYROXD1):c.394C>T (p.Arg132Cys)
NM_032578.4(MYPN):c.3380G>T (p.Gly1127Val)
NM_032608.7(MYO18B):c.6825G>A (p.Trp2275Ter)
NM_032806.6(POMGNT2):c.703G>T (p.Gly235Cys)
NM_133642.5(LARGE1):c.483del (p.Phe162fs)
NM_133642.5(LARGE1):c.895G>A (p.Val299Met)	rs1490201857
NM_152263.4(TPM3):c.175G>A (p.Asp59Asn)
NM_152328.5(ADSS1):c.794G>A (p.Gly265Glu)
NM_152393.4(KLHL40):c.1305C>G (p.Tyr435Ter)
NM_152393.4(KLHL40):c.186del (p.Phe62_Leu63insTer)
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser)	rs763283033
NM_152490.5(B3GALNT2):c.266T>C (p.Leu89Pro)
NM_152490.5(B3GALNT2):c.779T>A (p.Leu260Ter)
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu)	rs61672878
NM_170707.4(LMNA):c.133T>C (p.Tyr45His)	rs1649714371
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)	rs606231128
NM_173660.5(DOK7):c.451C>T (p.Gln151Ter)
NM_173660.5(DOK7):c.956C>A (p.Pro319His)	rs376334067
NM_182914.3(SYNE2):c.12167T>G (p.Leu4056Arg)	rs2153635602
NM_182914.3(SYNE2):c.12490C>G (p.Gln4164Glu)
NM_182914.3(SYNE2):c.15193A>G (p.Ile5065Val)
NM_182914.3(SYNE2):c.19199G>T (p.Gly6400Val)
NM_182914.3(SYNE2):c.3688G>A (p.Ala1230Thr)	rs1294862758
NM_182914.3(SYNE2):c.6011G>C (p.Gly2004Ala)
NM_182914.3(SYNE2):c.7147A>G (p.Thr2383Ala)
NM_182961.4(SYNE1):c.11342G>A (p.Gly3781Asp)
NM_182961.4(SYNE1):c.12476G>T (p.Arg4159Met)
NM_182961.4(SYNE1):c.13089A>T (p.Gln4363His)
NM_182961.4(SYNE1):c.1747G>T (p.Val583Leu)
NM_182961.4(SYNE1):c.3175A>T (p.Lys1059Ter)
NM_182961.4(SYNE1):c.8233T>A (p.Leu2745Met)
NM_182961.4(SYNE1):c.8468A>T (p.Asp2823Val)
NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs)	rs727502799
NM_201384.3(PLEC):c.10307A>G (p.Tyr3436Cys)
NM_201384.3(PLEC):c.1096G>A (p.Val366Met)
NM_201384.3(PLEC):c.7318C>T (p.Gln2440Ter)	rs2131266696
NM_201384.3(PLEC):c.7834T>C (p.Ser2612Pro)
NM_201384.3(PLEC):c.8882C>T (p.Thr2961Met)
NM_213599.3(ANO5):c.1707C>G (p.Tyr569Ter)

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