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_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_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_017534.6(MYH2):c.5192A>G (p.Asn1731Ser)
|
rs776712165
|
0.00001
|
NC_012920.1(MT-ND1):m.1616A>G
|
rs2124591018
|
|
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.7880T>G (p.Val2627Gly)
|
rs747337318
|
|
NM_001256007.3(PNPLA8):c.1452A>C (p.Thr484=)
|
|
|
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.49621G>T (p.Glu16541Ter)
|
rs2056671421
|
|
NM_001267550.2(TTN):c.52515G>A (p.Trp17505Ter)
|
rs1160660090
|
|
NM_001267550.2(TTN):c.60988T>C (p.Phe20330Leu)
|
rs2050031384
|
|
NM_001289808.2(CRYAB):c.41T>C (p.Phe14Ser)
|
rs1555165594
|
|
NM_001849.4(COL6A2):c.1843G>A (p.Asp615Asn)
|
|
|
NM_001849.4(COL6A2):c.1912_1914del (p.Val638del)
|
rs1568939674
|
|
NM_002693.3(POLG):c.1811C>T (p.Ala604Val)
|
rs1433922299
|
|
NM_002693.3(POLG):c.2386A>C (p.Lys796Gln)
|
|
|
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_020451.3(SELENON):c.1282-13G>A
|
|
|
NM_152263.4(TPM3):c.480T>A (p.Asp160Glu)
|
rs1030128563
|
|
NM_152263.4:c.(377+1_387-1)_(566+1_567-1)del
|
|
|