|
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)
|
rs68080670
|
0.01276
|
|
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn)
|
rs115311625
|
0.00908
|
|
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)
|
rs117725825
|
0.00233
|
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs11394094
|
0.00159
|
|
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)
|
rs72677243
|
0.00094
|
|
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu)
|
rs752492870
|
0.00023
|
|
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)
|
rs121918044
|
0.00004
|
|
NM_000540.3(RYR1):c.7613C>T (p.Thr2538Met)
|
rs575446156
|
0.00003
|
|
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro)
|
rs200916654
|
0.00003
|
|
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe)
|
rs762412447
|
0.00002
|
|
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met)
|
rs747082651
|
0.00002
|
|
NM_000070.3(CAPN3):c.1504A>G (p.Ile502Val)
|
rs755433765
|
0.00001
|
|
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)
|
rs764370512
|
0.00001
|
|
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)
|
rs778768583
|
0.00001
|
|
NM_000540.3(RYR1):c.8518C>T (p.Arg2840Trp)
|
rs193922830
|
0.00001
|
|
NM_001458.5(FLNC):c.6200G>A (p.Arg2067His)
|
rs776520014
|
0.00001
|
|
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter)
|
rs128626249
|
0.00001
|
|
NM_005198.5(CHKB):c.940C>T (p.Arg314Cys)
|
rs200919604
|
0.00001
|
|
NM_031157.4(HNRNPA1):c.1099G>A (p.Gly367Ser)
|
rs772603507
|
0.00001
|
|
NM_173660.5(DOK7):c.1061C>T (p.Ser354Phe)
|
rs756015202
|
0.00001
|
|
NM_182961.4(SYNE1):c.23288A>G (p.Glu7763Gly)
|
rs765427429
|
0.00001
|
|
NM_000023.4(SGCA):c.37G>A (p.Val13Ile)
|
|
|
|
NM_000070.3(CAPN3):c.2051-1G>T
|
rs886042108
|
|
|
NM_000070.3(CAPN3):c.2134_*219del (p.Leu712_Ter822del)
|
|
|
|
NM_000070.3(CAPN3):c.266A>G (p.Tyr89Cys)
|
|
|
|
NM_000070.3:g.(42408325_42409302)_(42412214_?)del
|
|
|
|
NM_000116.5(TAFAZZIN):c.836del (p.Thr279fs)
|
rs1557194525
|
|
|
NM_000426.4(LAMA2):c.2877_2878dup (p.Ser960fs)
|
|
|
|
NM_000426.4(LAMA2):c.4959+1del
|
rs1583591577
|
|
|
NM_000426.4(LAMA2):c.7881T>G (p.His2627Gln)
|
rs202247792
|
|
|
NM_000540.3(RYR1):c.10958T>A (p.Phe3653Tyr)
|
rs2145723708
|
|
|
NM_001100.4(ACTA1):c.521C>T (p.Pro174Leu)
|
rs1057519311
|
|
|
NM_001103.4(ACTN2):c.937A>T (p.Met313Leu)
|
|
|
|
NM_001130987.2(DYSF):c.1493+2dup
|
rs753885022
|
|
|
NM_001130987.2(DYSF):c.2217-1G>T
|
rs886044379
|
|
|
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)
|
rs756328339
|
|
|
NM_001130987.2(DYSF):c.4701C>G (p.Tyr1567Ter)
|
rs770905160
|
|
|
NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp)
|
rs1131692158
|
|
|
NM_001130987.2(DYSF):c.730del (p.Leu244fs)
|
rs1553521119
|
|
|
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)
|
rs121908963
|
|
|
NM_001267550.2(TTN):c.97708T>C (p.Tyr32570His)
|
|
|
|
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)
|
rs121912938
|
|
|
NM_001849.4(COL6A2):c.2134G>C (p.Asp712His)
|
|
|
|
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
|
rs267607490
|
|
|
NM_003494.4(DYSF):c.[1670T>C];[4701C>G]
|
|
|
|
NM_004006.2(DMD):c.94_264dup
|
|
|
|
NM_004006.2:c.94_3786dup
|
|
|
|
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter)
|
rs1064325
|
|
|
NM_004006.3(DMD):c.6485T>A (p.Leu2162Ter)
|
|
|
|
NM_004006.3(DMD):c.6615-2A>G
|
rs1557011973
|
|
|
NM_004006.3(DMD):c.8459G>A (p.Trp2820Ter)
|
rs886039785
|
|
|
NM_004006.3(DMD):c.8668+1G>A
|
rs2149256957
|
|
|
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met)
|
rs535661345
|
|
|
NM_004370.6(COL12A1):c.1232C>A (p.Thr411Lys)
|
rs2149467046
|
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
|
NM_005476.7(GNE):c.397_398dup (p.Glu134fs)
|
rs1829869628
|
|
|
NM_005476.7(GNE):c.4G>T (p.Glu2Ter)
|
rs886044514
|
|
|
NM_005476.7(GNE):c.[2086G>A];[385C>T]
|
|
|
|
NM_006063.3(KLHL41):c.881_890del (p.Asp294fs)
|
|
|
|
NM_012470.4(TNPO3):c.1359-19A>G
|
|
|
|
NM_016532.4(INPP5K):c.1247G>C (p.Ser416Thr)
|
rs777736302
|
|
|
NM_017534.6(MYH2):c.4352del (p.Lys1451fs)
|
rs757195322
|
|
|
NM_018116.4(MSTO1):c.725G>A (p.Gly242Asp)
|
|
|
|
NM_024301.5(FKRP):c.679G>C (p.Ala227Pro)
|
rs775681117
|
|
|
NM_032806.6(POMGNT2):c.255C>G (p.Cys85Trp)
|
|
|
|
NM_170707.4(LMNA):c.91_93del (p.Glu31del)
|
rs864309525
|
|
|
NM_173660.5(DOK7):c.199C>T (p.Pro67Ser)
|
rs1553846331
|
|
|
NM_182914.3(SYNE2):c.7681A>T (p.Lys2561Ter)
|
|
|
|
NM_201384.3(PLEC):c.7895C>T (p.Ala2632Val)
|
|
|