|
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_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)
|
rs146384562
|
0.00124
|
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
|
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
|
rs113994098
|
0.00028
|
|
NM_000334.4(SCN4A):c.5218C>T (p.Arg1740Trp)
|
rs373804267
|
0.00006
|
|
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)
|
rs121918593
|
0.00006
|
|
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)
|
rs118192173
|
0.00005
|
|
NM_021738.3(SVIL):c.1783G>A (p.Ala595Thr)
|
rs763112940
|
0.00004
|
|
NM_182914.3(SYNE2):c.15130C>T (p.Leu5044Phe)
|
rs551007724
|
0.00004
|
|
NM_004006.3(DMD):c.1812+1G>A
|
rs373286166
|
0.00003
|
|
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln)
|
rs1126568
|
0.00002
|
|
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs)
|
rs1490309743
|
0.00001
|
|
NM_001267550.2(TTN):c.88837A>T (p.Lys29613Ter)
|
rs794729300
|
0.00001
|
|
NM_004168.4(SDHA):c.1127T>C (p.Leu376Pro)
|
rs1433477205
|
0.00001
|
|
NM_004369.4(COL6A3):c.2665C>T (p.Arg889Cys)
|
rs201327438
|
0.00001
|
|
NM_004370.6(COL12A1):c.6080G>A (p.Gly2027Glu)
|
rs780058273
|
0.00001
|
|
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)
|
rs768606230
|
0.00001
|
|
NM_000182.5(HADHA):c.1811del (p.Gly604fs)
|
rs747985669
|
|
|
NM_000183.3(HADHB):c.1063C>A (p.Pro355Thr)
|
rs1370999216
|
|
|
NM_000217.3(KCNA1):c.1210G>A (p.Val404Ile)
|
rs104894355
|
|
|
NM_000334.4(SCN4A):c.3733G>A (p.Gly1245Ser)
|
|
|
|
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
|
rs202247790
|
|
|
NM_000426.4(LAMA2):c.5122G>T (p.Glu1708Ter)
|
|
|
|
NM_000426.4(LAMA2):c.5266A>T (p.Lys1756Ter)
|
rs2114674584
|
|
|
NM_000540.3(RYR1):c.12443A>C (p.Asn4148Thr)
|
rs1213878810
|
|
|
NM_000540.3(RYR1):c.9257A>T (p.Glu3086Val)
|
|
|
|
NM_001080449.3(DNA2):c.1213T>C (p.Tyr405His)
|
rs2133402393
|
|
|
NM_001130987.2(DYSF):c.1127T>C (p.Leu376Pro)
|
rs2152742282
|
|
|
NM_001130987.2(DYSF):c.5547-2A>G
|
rs1238293747
|
|
|
NM_001164508.2(NEB):c.19573C>T (p.Pro6525Ser)
|
|
|
|
NM_001164508.2(NEB):c.25333C>T (p.Gln8445Ter)
|
rs2152763931
|
|
|
NM_001164508.2(NEB):c.6075+3A>T
|
rs986325764
|
|
|
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)
|
rs1553939600
|
|
|
NM_001267550.2(TTN):c.18391_18394del (p.Gly6131fs)
|
rs2154307613
|
|
|
NM_001267550.2(TTN):c.50914_50918del (p.Leu16972fs)
|
rs2056249919
|
|
|
NM_001267550.2(TTN):c.62810_62813dup (p.Arg20939fs)
|
|
|
|
NM_001289808.2(CRYAB):c.503C>G (p.Ala168Gly)
|
rs2137378339
|
|
|
NM_001848.3(COL6A1):c.1123G>A (p.Glu375Lys)
|
|
|
|
NM_001849.4(COL6A2):c.105C>A (p.Asn35Lys)
|
|
|
|
NM_002226.5(JAG2):c.2308G>A (p.Gly770Arg)
|
|
|
|
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp)
|
rs121918049
|
|
|
NM_004369.4(COL6A3):c.7321C>T (p.Arg2441Trp)
|
|
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
|
NM_006828.4(ASCC3):c.2554C>T (p.Arg852Ter)
|
|
|
|
NM_006828.4(ASCC3):c.4682T>C (p.Phe1561Ser)
|
|
|
|
NM_017534.6(MYH2):c.2176C>T (p.Gln726Ter)
|
|
|
|
NM_021738.3(SVIL):c.3386A>G (p.Glu1129Gly)
|
rs2132529196
|
|
|
NM_058174.3(COL6A2):c.2654C>G (p.Thr885Ser)
|
|
|
|
NM_182961.4(SYNE1):c.2624del (p.Gly875fs)
|
|
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|