|
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)
|
rs140291094
|
0.00039
|
|
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
|
rs201725369
|
0.00016
|
|
NM_001256545.2(MEGF10):c.319C>T (p.Pro107Ser)
|
rs200163743
|
0.00006
|
|
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)
|
rs398123061
|
0.00003
|
|
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)
|
rs201732356
|
0.00003
|
|
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)
|
rs202218890
|
0.00002
|
|
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)
|
rs118192174
|
0.00001
|
|
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)
|
rs753334568
|
0.00001
|
|
NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp)
|
rs387907338
|
0.00001
|
|
NM_002693.3(POLG):c.1816dup (p.Thr606fs)
|
rs1319481399
|
0.00001
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
|
NM_000182.5(HADHA):c.1086-1_1088dup
|
|
|
|
NM_000183.3(HADHB):c.631-1G>A
|
rs1553322031
|
|
|
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)
|
|
|
|
NM_000426.4(LAMA2):c.4524-2A>T
|
rs1554278541
|
|
|
NM_000426.4(LAMA2):c.67_71del (p.Gln23fs)
|
|
|
|
NM_000540.3(RYR1):c.12623A>G (p.Gln4208Arg)
|
|
|
|
NM_000540.3(RYR1):c.14228G>T (p.Gly4743Val)
|
|
|
|
NM_000540.3(RYR1):c.2633A>G (p.His878Arg)
|
|
|
|
NM_000540.3(RYR1):c.7282G>T (p.Ala2428Ser)
|
|
|
|
NM_001025389.2(AMPD3):c.1815_1816del (p.Ile606fs)
|
|
|
|
NM_001033.5(RRM1):c.1142G>A (p.Arg381His)
|
|
|
|
NM_001077365.2(POMT1):c.1175+4_1175+7del
|
rs1588409344
|
|
|
NM_001077365.2(POMT1):c.2113_2114del (p.Ser705fs)
|
rs587777819
|
|
|
NM_001077365.2(POMT1):c.280G>T (p.Glu94Ter)
|
|
|
|
NM_001079802.2(FKTN):c.314G>T (p.Cys105Phe)
|
rs786205597
|
|
|
NM_001100.4(ACTA1):c.347C>T (p.Ala116Val)
|
rs1659975747
|
|
|
NM_001100.4(ACTA1):c.769T>C (p.Phe257Leu)
|
|
|
|
NM_001130987.2(DYSF):c.2266C>T (p.Gln756Ter)
|
rs1172643225
|
|
|
NM_001159702.3(FHL1):c.705_706del (p.Arg236fs)
|
|
|
|
NM_001161403.3(LIMS2):c.430del (p.His144fs)
|
|
|
|
NM_001256007.3(PNPLA8):c.1748_1749del (p.Tyr583fs)
|
|
|
|
NM_001267550.2(TTN):c.15496+1G>T
|
rs397517481
|
|
|
NM_001267550.2(TTN):c.19426+2T>A
|
rs727505178
|
|
|
NM_001267550.2(TTN):c.22870G>T (p.Glu7624Ter)
|
|
|
|
NM_001267550.2(TTN):c.28462+1G>T
|
rs2076520917
|
|
|
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter)
|
rs1559598775
|
|
|
NM_001267550.2(TTN):c.60127G>T (p.Gly20043Ter)
|
|
|
|
NM_001267550.2(TTN):c.63938G>A (p.Trp21313Ter)
|
|
|
|
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)
|
rs869320740
|
|
|
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter)
|
rs780414947
|
|
|
NM_001277062.2(MFF):c.112C>T (p.Gln38Ter)
|
rs397514615
|
|
|
NM_002226.5(JAG2):c.312C>A (p.Tyr104Ter)
|
|
|
|
NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys)
|
rs1824676022
|
|
|
NM_003673.4(TCAP):c.110+5G>T
|
rs794729178
|
|
|
NM_004006.3(DMD):c.2168+1G>T
|
rs1057518207
|
|
|
NM_004006.3(DMD):c.4444A>T (p.Lys1482Ter)
|
|
|
|
NM_004369.4(COL6A3):c.3488T>C (p.Ile1163Thr)
|
|
|
|
NM_004370.6(COL12A1):c.5308_5311del (p.Thr1770fs)
|
|
|
|
NM_004370.6(COL12A1):c.9113dup (p.Gly3039fs)
|
|
|
|
NM_005006.7(NDUFS1):c.758T>G (p.Val253Gly)
|
rs786205666
|
|
|
NM_005476.7(GNE):c.503T>C (p.Leu168Pro)
|
|
|
|
NM_006063.3(KLHL41):c.641del (p.Asn214fs)
|
rs730882235
|
|
|
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys)
|
rs397514610
|
|
|
NM_006790.3(MYOT):c.634C>T (p.Gln212Ter)
|
|
|
|
NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs)
|
rs730882237
|
|
|
NM_007124.3(UTRN):c.4134+1G>A
|
|
|
|
NM_016532.4(INPP5K):c.302T>C (p.Phe101Ser)
|
rs2075263105
|
|
|
NM_021971.4(GMPPB):c.640+1G>C
|
rs141588721
|
|
|
NM_024301.5(FKRP):c.883C>G (p.Arg295Gly)
|
rs2054921636
|
|
|
NM_025215.6(PUS1):c.462_463dup (p.Val155fs)
|
|
|
|
NM_031229.4(RBCK1):c.683_705del (p.Ala228fs)
|
|
|
|
NM_032578.4(MYPN):c.1722dup (p.Lys575fs)
|
|
|
|
NM_032578.4(MYPN):c.1903C>T (p.Gln635Ter)
|
|
|
|
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter)
|
rs556752387
|
|
|
NM_033337.3(CAV3):c.128A>G (p.Asp43Gly)
|
|
|
|
NM_078470.6(COX15):c.750+1G>A
|
|
|
|
NM_170707.4(LMNA):c.139G>A (p.Asp47Asn)
|
rs267607608
|
|
|
NM_170707.4(LMNA):c.1560G>C (p.Trp520Cys)
|
|
|
|
NM_170707.4(LMNA):c.470delinsGCTGGA (p.Thr157fs)
|
|
|
|
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp)
|
rs864321624
|
|