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)
|
rs113994094
|
0.00159
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu)
|
rs374497665
|
0.00014
|
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser)
|
rs199837769
|
0.00013
|
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val)
|
rs377571654
|
0.00011
|
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys)
|
rs74315511
|
0.00011
|
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His)
|
rs374615369
|
0.00008
|
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val)
|
rs727505020
|
0.00006
|
NM_001164508.2(NEB):c.19543C>T (p.Arg6515Cys)
|
rs765363585
|
0.00002
|
NM_001267550.2(TTN):c.7057+1G>A
|
rs763909866
|
0.00002
|
NM_004370.6(COL12A1):c.7490T>C (p.Ile2497Thr)
|
rs1228621705
|
0.00002
|
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn)
|
rs387906610
|
0.00001
|
NM_001849.4(COL6A2):c.982G>A (p.Gly328Arg)
|
rs779867653
|
0.00001
|
NM_017534.6(MYH2):c.5192A>G (p.Asn1731Ser)
|
rs776712165
|
0.00001
|
NC_012920.1(MT-ND1):m.1616A>G
|
rs2124591018
|
|
NC_012920.1(MT-ND5):m.12425del
|
rs1603223730
|
|
NM_000252.3(MTM1):c.1053+5G>T
|
rs1557414132
|
|
NM_000257.4(MYH7):c.4285_4287del (p.Met1429del)
|
rs1892274161
|
|
NM_000257.4(MYH7):c.4978G>C (p.Ala1660Pro)
|
rs1892176969
|
|
NM_000540.3(RYR1):c.11905C>A (p.Gln3969Lys)
|
rs748748397
|
|
NM_000540.3(RYR1):c.12568_12576del (p.Glu4190_Ile4192del)
|
rs1176364208
|
|
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)
|
rs118192170
|
|
NM_000540.3(RYR1):c.7880T>G (p.Val2627Gly)
|
rs747337318
|
|
NM_001042631.3(SDHAF1):c.95T>A (p.Val32Glu)
|
|
|
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro)
|
rs121909530
|
|
NM_001100.4(ACTA1):c.868G>C (p.Asp290His)
|
rs1553255354
|
|
NM_001164508.2(NEB):c.17635-3dup
|
rs3214503
|
|
NM_001256007.3(PNPLA8):c.1452A>C (p.Thr484=)
|
|
|
NM_001267550.2(TTN):c.100590C>G (p.Tyr33530Ter)
|
rs1489832770
|
|
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)
|
rs760768093
|
|
NM_001267550.2(TTN):c.2447T>C (p.Phe816Ser)
|
rs2093121464
|
|
NM_001267550.2(TTN):c.28383del (p.Gly9462fs)
|
rs2154295037
|
|
NM_001267550.2(TTN):c.38424del (p.Lys12809fs)
|
rs1553775991
|
|
NM_001267550.2(TTN):c.48638+1del
|
|
|
NM_001267550.2(TTN):c.49621G>T (p.Glu16541Ter)
|
rs2056671421
|
|
NM_001267550.2(TTN):c.52515G>A (p.Trp17505Ter)
|
rs1160660090
|
|
NM_001267550.2(TTN):c.54406_54409del (p.Gln18136fs)
|
|
|
NM_001267550.2(TTN):c.54652C>T (p.Arg18218Ter)
|
|
|
NM_001267550.2(TTN):c.60988T>C (p.Phe20330Leu)
|
rs2050031384
|
|
NM_001267550.2(TTN):c.61009G>T (p.Glu20337Ter)
|
rs2050024892
|
|
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter)
|
rs794729280
|
|
NM_001267550.2(TTN):c.80762_80765del (p.Lys26921fs)
|
rs2154164725
|
|
NM_001267550.2(TTN):c.86168del (p.Phe28723fs)
|
|
|
NM_001267550.2(TTN):c.87315dup (p.Glu29106fs)
|
rs1702181550
|
|
NM_001267550.2(TTN):c.96464del (p.Val32155fs)
|
rs2154143564
|
|
NM_001267550.2(TTN):c.97472_97473del (p.Ile32491fs)
|
|
|
NM_001267550.2(TTN):c.97560G>A (p.Trp32520Ter)
|
rs1694489284
|
|
NM_001289808.2(CRYAB):c.41T>C (p.Phe14Ser)
|
rs1555165594
|
|
NM_001458.5(FLNC):c.8130G>A (p.Trp2710Ter)
|
rs121909518
|
|
NM_001849.4(COL6A2):c.1843G>A (p.Asp615Asn)
|
|
|
NM_001849.4(COL6A2):c.1912_1914del (p.Val638del)
|
rs1568939674
|
|
NM_001849.4(COL6A2):c.928-2A>G
|
rs1440070681
|
|
NM_001927.4(DES):c.1049G>C (p.Arg350Pro)
|
rs57965306
|
|
NM_002465.4(MYBPC1):c.776T>C (p.Leu259Pro)
|
rs1421405659
|
|
NM_002693.3(POLG):c.1811C>T (p.Ala604Val)
|
rs1433922299
|
|
NM_004369.4(COL6A3):c.2717T>A (p.Met906Lys)
|
rs2077868316
|
|
NM_004370.6(COL12A1):c.6778A>G (p.Thr2260Ala)
|
rs1765885022
|
|
NM_005876.5(SPEG):c.9389C>T (p.Pro3130Leu)
|
rs1376293618
|
|
NM_017534.6(MYH2):c.4007C>T (p.Ala1336Val)
|
rs138470281
|
|
NM_017534.6(MYH2):c.5630T>C (p.Leu1877Pro)
|
rs2142289928
|
|
NM_020451.3(SELENON):c.1282-13G>A
|
|
|
NM_020451.3(SELENON):c.1387+1G>A
|
rs2047977957
|
|
NM_020451.3(SELENON):c.1446del (p.Asn483fs)
|
rs2124454648
|
|
NM_020451.3(SELENON):c.713dup (p.Asn238fs)
|
rs368104077
|
|
NM_021830.5(TWNK):c.649C>T (p.Arg217Ter)
|
rs1382829987
|
|
NM_152263.4(TPM3):c.480T>A (p.Asp160Glu)
|
rs1030128563
|
|
NM_152263.4:c.(377+1_387-1)_(566+1_567-1)del
|
|
|
m.3946G>A
|
rs199476123
|
|
m.5521G>A
|
rs199474673
|
|
m.8344A>G
|
rs118192098
|
|