NM_032608.7(MYO18B):c.7345C>T (p.Arg2449Trp)
|
rs149103381
|
0.00446
|
NM_001256007.3(PNPLA8):c.559C>T (p.Arg187Cys)
|
rs139626312
|
0.00311
|
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_000540.3(RYR1):c.2383C>T (p.Arg795Cys)
|
rs547608972
|
0.00026
|
NM_000540.3(RYR1):c.2654G>A (p.Arg885His)
|
rs370634440
|
0.00013
|
NM_001458.5(FLNC):c.4480C>T (p.Arg1494Trp)
|
rs779079128
|
0.00013
|
NM_005876.5(SPEG):c.7262C>T (p.Pro2421Leu)
|
rs376076241
|
0.00012
|
NM_001164508.2(NEB):c.24114+1G>A
|
rs755239192
|
0.00009
|
NM_001368067.1(LDB3):c.433G>A (p.Gly145Ser)
|
rs376489385
|
0.00009
|
NM_002693.3(POLG):c.460G>A (p.Ala154Thr)
|
rs753858440
|
0.00009
|
NM_078470.6(COX15):c.532C>T (p.Arg178Cys)
|
rs192078749
|
0.00008
|
NM_001077525.3(MTMR14):c.1144C>T (p.Arg382Trp)
|
rs757251437
|
0.00006
|
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met)
|
rs769795690
|
0.00006
|
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg)
|
rs763348222
|
0.00006
|
NM_001256545.2(MEGF10):c.2330G>A (p.Arg777His)
|
rs565304206
|
0.00005
|
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr)
|
rs369100772
|
0.00005
|
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys)
|
rs749760185
|
0.00005
|
NM_017534.6(MYH2):c.3821G>A (p.Arg1274Gln)
|
rs756811670
|
0.00005
|
NM_032608.7(MYO18B):c.4058G>A (p.Arg1353His)
|
rs532777099
|
0.00005
|
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His)
|
rs368572799
|
0.00004
|
NM_001848.3(COL6A1):c.1945G>A (p.Glu649Lys)
|
rs764129993
|
0.00004
|
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val)
|
rs766488017
|
0.00004
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr)
|
rs1235556906
|
0.00003
|
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys)
|
rs201337277
|
0.00003
|
NM_001101362.3(KBTBD13):c.543C>G (p.Asp181Glu)
|
rs760224608
|
0.00002
|
NM_001164508.2(NEB):c.9125G>A (p.Cys3042Tyr)
|
rs779603526
|
0.00002
|
NM_002693.3(POLG):c.1615_1623del (p.Phe539_Gln541del)
|
rs754586219
|
0.00002
|
NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn)
|
rs563130304
|
0.00002
|
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)
|
rs1243779049
|
0.00001
|
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val)
|
rs730880761
|
0.00001
|
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter)
|
rs1218073575
|
0.00001
|
NM_001267550.2(TTN):c.46771T>C (p.Tyr15591His)
|
rs775496863
|
0.00001
|
NM_001267550.2(TTN):c.57970C>T (p.Arg19324Trp)
|
rs1203435642
|
0.00001
|
NM_001848.3(COL6A1):c.1255G>A (p.Gly419Ser)
|
rs745485695
|
0.00001
|
NM_002693.3(POLG):c.13C>T (p.Leu5Phe)
|
rs761648850
|
0.00001
|
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)
|
rs769827124
|
0.00001
|
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)
|
rs9809219
|
0.00001
|
NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile)
|
rs755052076
|
0.00001
|
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn)
|
rs778403814
|
0.00001
|
NM_004369.4(COL6A3):c.6520G>A (p.Gly2174Ser)
|
rs766458058
|
0.00001
|
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val)
|
rs1013873051
|
0.00001
|
NM_152393.4(KLHL40):c.1396G>A (p.Val466Ile)
|
rs773720799
|
0.00001
|
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg)
|
rs781941217
|
|
NM_000182.5(HADHA):c.2131C>T (p.Pro711Ser)
|
rs138966725
|
|
NM_000183.3(HADHB):c.694G>A (p.Ala232Thr)
|
rs987203346
|
|
NM_000183.3(HADHB):c.901G>C (p.Gly301Arg)
|
rs891954464
|
|
NM_000252.3(MTM1):c.1533C>A (p.Asn511Lys)
|
rs1569565536
|
|
NM_000540.3(RYR1):c.11687A>T (p.Asn3896Ile)
|
rs1555793251
|
|
NM_000540.3(RYR1):c.8159C>A (p.Ser2720Ter)
|
rs1568510406
|
|
NM_000540.3(RYR1):c.8446A>G (p.Met2816Val)
|
rs775492883
|
|
NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del)
|
rs1438501767
|
|
NM_001080449.3(DNA2):c.3014C>T (p.Thr1005Ile)
|
rs376624048
|
|
NM_001101362.3(KBTBD13):c.1026T>G (p.Tyr342Ter)
|
rs760601340
|
|
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs)
|
rs1344099907
|
|
NM_001164508.2(NEB):c.6127A>G (p.Arg2043Gly)
|
rs1321911647
|
|
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter)
|
rs80344795
|
|
NM_001164508.2(NEB):c.9619C>T (p.Arg3207Cys)
|
rs200351671
|
|
NM_001164508.2(NEB):c.9631G>A (p.Glu3211Lys)
|
rs757944456
|
|
NM_001267550.2(TTN):c.106925G>A (p.Gly35642Asp)
|
rs1553480410
|
|
NM_001267550.2(TTN):c.1771C>T (p.Gln591Ter)
|
rs747286444
|
|
NM_001267550.2(TTN):c.23633A>T (p.Glu7878Val)
|
rs1553906392
|
|
NM_001267550.2(TTN):c.31643C>T (p.Pro10548Leu)
|
rs753460621
|
|
NM_001267550.2(TTN):c.33826+1G>A
|
rs1389908421
|
|
NM_001267550.2(TTN):c.3487G>A (p.Gly1163Arg)
|
rs1554015228
|
|
NM_001267550.2(TTN):c.34922del (p.Pro11641fs)
|
rs1553809971
|
|
NM_001267550.2(TTN):c.39379+2T>G
|
rs1560102141
|
|
NM_001267550.2(TTN):c.70876G>T (p.Glu23626Ter)
|
rs1559446852
|
|
NM_001267550.2(TTN):c.94906G>A (p.Asp31636Asn)
|
rs776793953
|
|
NM_001378030.1(CCDC78):c.436-7C>G
|
rs1567323012
|
|
NM_001458.5(FLNC):c.1199T>C (p.Ile400Thr)
|
rs1562992604
|
|
NM_001458.5(FLNC):c.904A>G (p.Thr302Ala)
|
rs1410531577
|
|
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)
|
rs121912938
|
|
NM_001849.4(COL6A2):c.148G>A (p.Val50Met)
|
rs727502826
|
|
NM_001849.4(COL6A2):c.2069C>G (p.Ala690Gly)
|
rs1568940242
|
|
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)
|
rs267606747
|
|
NM_001927.4(DES):c.1151A>G (p.His384Arg)
|
rs1553603566
|
|
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser)
|
rs755536829
|
|
NM_024854.5(PYROXD1):c.1004_1006del (p.Gly335del)
|
rs1565554407
|
|
NM_025215.6(PUS1):c.813del (p.Phe272fs)
|
rs1566148136
|
|
NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs)
|
rs1569172839
|
|
NM_080916.3(DGUOK):c.155C>G (p.Ser52Cys)
|
rs1204316787
|
|
NM_145064.3(STAC3):c.560T>A (p.Met187Lys)
|
rs1461373398
|
|
NM_152263.4(TPM3):c.503G>A (p.Arg168His)
|
rs121964852
|
|
NM_213674.1(TPM2):c.826C>G (p.Gln276Glu)
|
rs376668943
|
|