NM_001101362.3(KBTBD13):c.798A>G (p.Glu266=)
|
rs2919359
|
0.86820
|
NM_020451.3(SELENON):c.1506C>A (p.Asn502Lys)
|
rs2294228
|
0.64022
|
NM_000252.3(MTM1):c.1260+3G>A
|
rs222410
|
0.58566
|
NM_001101362.3(KBTBD13):c.242C>T (p.Ala81Val)
|
rs2919358
|
0.46622
|
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His)
|
rs1042917
|
0.45419
|
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys)
|
rs10172023
|
0.26237
|
NM_004168.4(SDHA):c.1908+90A>G
|
rs6888536
|
0.25155
|
NM_004168.4(SDHA):c.1908+85G>A
|
rs6864807
|
0.21789
|
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile)
|
rs6962
|
0.18133
|
NM_004281.4(BAG3):c.1220C>T (p.Pro407Leu)
|
rs3858340
|
0.12393
|
NM_006063.3(KLHL41):c.811G>A (p.Ala271Thr)
|
rs28763868
|
0.08132
|
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln)
|
rs11896521
|
0.05751
|
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser)
|
rs146934311
|
0.01744
|
NM_004369.4(COL6A3):c.6156+4C>T
|
rs111228504
|
0.00884
|
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg)
|
rs77632596
|
0.00808
|
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg)
|
rs72648927
|
0.00729
|
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys)
|
rs141703710
|
0.00717
|
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His)
|
rs41266761
|
0.00484
|
NM_017534.6(MYH2):c.2908G>A (p.Val970Ile)
|
rs143872329
|
0.00456
|
NM_004369.4(COL6A3):c.2030G>A (p.Arg677His)
|
rs35227432
|
0.00389
|
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)
|
rs72650011
|
0.00378
|
NM_004281.4(BAG3):c.249C>A (p.His83Gln)
|
rs151331972
|
0.00344
|
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser)
|
rs144692954
|
0.00327
|
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His)
|
rs75120695
|
0.00315
|
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile)
|
rs151266052
|
0.00245
|
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val)
|
rs142586585
|
0.00225
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)
|
rs144830948
|
0.00148
|
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)
|
rs150165484
|
0.00131
|
NM_002469.3(MYF6):c.334G>T (p.Ala112Ser)
|
rs28928909
|
0.00121
|
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr)
|
rs117390537
|
0.00103
|
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)
|
rs145393807
|
0.00085
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro)
|
rs138951890
|
0.00080
|
NM_002469.3(MYF6):c.269C>A (p.Ala90Asp)
|
rs138296448
|
0.00077
|
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr)
|
rs72629793
|
0.00063
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00059
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp)
|
rs117671123
|
0.00036
|
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala)
|
rs200662973
|
0.00034
|
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)
|
rs201057307
|
0.00033
|
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr)
|
rs114322958
|
0.00031
|
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile)
|
rs200796750
|
0.00022
|
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)
|
rs181860632
|
0.00010
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
NM_004369.4(COL6A3):c.1292C>T (p.Pro431Leu)
|
rs144746928
|
0.00008
|
NM_001267550.2(TTN):c.-71G>A
|
rs368880755
|
0.00006
|
NM_001267550.2(TTN):c.27607G>T (p.Glu9203Ter)
|
rs769097909
|
0.00003
|
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val)
|
rs372331627
|
0.00003
|
NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu)
|
rs201093313
|
0.00002
|
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys)
|
rs121913651
|
0.00001
|
NM_001164508.2(NEB):c.24304_24305dup (p.Leu8102fs)
|
rs1559207733
|
0.00001
|
NM_004168.4(SDHA):c.1242C>T (p.Pro414=)
|
rs777306884
|
0.00001
|
NM_017534.6(MYH2):c.2806G>A (p.Glu936Lys)
|
rs1373237213
|
0.00001
|
NM_017534.6(MYH2):c.533C>T (p.Thr178Ile)
|
rs756953958
|
0.00001
|
NC_000002.11:g.238258810delG
|
rs794729205
|
|
NC_000014.9:g.23415255_23415272del
|
rs2138638795
|
|
NC_012920.1(MT-CYB):m.12258C>T
|
rs118203888
|
|
NC_012920.1(MT-CYB):m.12264C>T
|
rs1603223642
|
|
NC_012920.1(MT-CYB):m.16002T>C
|
rs1603225633
|
|
NC_012920.1(MT-CYB):m.1630A>G
|
rs1603218588
|
|
NC_012920.1(MT-CYB):m.1644G>A
|
rs587776441
|
|
NC_012920.1(MT-CYB):m.1659T>C
|
rs1603218609
|
|
NC_012920.1(MT-CYB):m.3243A>T
|
rs199474657
|
|
NC_012920.1(MT-CYB):m.3255G>A
|
rs1603218856
|
|
NC_012920.1(MT-CYB):m.3302A>G
|
rs1603218878
|
|
NC_012920.1(MT-CYB):m.4296G>A
|
rs1603219393
|
|
NC_012920.1(MT-CYB):m.5540G>A
|
rs1603220014
|
|
NC_012920.1(MT-CYB):m.5543T>C
|
rs1603220016
|
|
NC_012920.1(MT-CYB):m.8362T>G
|
rs1603221423
|
|
NC_012920.1:m.3243A>G
|
rs199474657
|
|
NC_012920.1:m.3291T>C
|
rs869312463
|
|
NM_000182.5(HADHA):c.1689+2T>G
|
rs1574602991
|
|
NM_000183.3(HADHB):c.1206C>G (p.Tyr402Ter)
|
rs146538551
|
|
NM_000183.3(HADHB):c.1375G>A (p.Ala459Thr)
|
rs1376342675
|
|
NM_000183.3(HADHB):c.5_7dup (p.Thr2dup)
|
rs3839049
|
|
NM_000252.3(MTM1):c.136+1G>T
|
rs1603124201
|
|
NM_000252.3(MTM1):c.490_493del (p.Trp164fs)
|
rs1603184989
|
|
NM_000540.3(RYR1):c.14592CAA[1] (p.Asn4865del)
|
rs2145896801
|
|
NM_001080449.3(DNA2):c.1644_1647del (p.Asp548fs)
|
rs768077989
|
|
NM_001100.4(ACTA1):c.1004C>G (p.Pro335Arg)
|
rs1057518493
|
|
NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe)
|
rs1571892196
|
|
NM_001100.4(ACTA1):c.209A>G (p.Lys70Arg)
|
rs1571893885
|
|
NM_001100.4(ACTA1):c.359A>T (p.Lys120Met)
|
rs2102736219
|
|
NM_001100.4(ACTA1):c.762C>G (p.Asn254Lys)
|
rs1571892988
|
|
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter)
|
rs779909544
|
|
NM_001164508.2(NEB):c.1674+2T>C
|
rs1553603437
|
|
NM_001164508.2(NEB):c.17635-3dup
|
rs3214503
|
|
NM_001164508.2(NEB):c.19102-10_19102-4del
|
rs1577576425
|
|
NM_001164508.2(NEB):c.20467-2A>C
|
rs1392500142
|
|
NM_001164508.2(NEB):c.22272+2dup
|
rs773465809
|
|
NM_001164508.2(NEB):c.22327C>T (p.Arg7443Ter)
|
rs1576203853
|
|
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg)
|
rs1575897069
|
|
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)
|
rs1575714905
|
|
NM_001164508.2(NEB):c.23847del (p.Glu7950fs)
|
rs1575305566
|
|
NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs)
|
rs2153020985
|
|
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs)
|
rs1553555882
|
|
NM_001164508.2(NEB):c.2943G>A (p.Glu981=)
|
rs398124170
|
|
NM_001164508.2(NEB):c.870_873del (p.Ser290fs)
|
rs2150050727
|
|
NM_001164508.2(NEB):c.8889+1G>A
|
rs1553963960
|
|
NM_001267550.2(TTN):c.106531+1G>A
|
rs760915007
|
|
NM_001267550.2(TTN):c.19156C>T (p.Gln6386Ter)
|
rs1578126437
|
|
NM_001267550.2(TTN):c.30683-3del
|
rs368277751
|
|
NM_001267550.2(TTN):c.35154dup (p.Val11719fs)
|
rs2067087661
|
|
NM_001267550.2(TTN):c.65863+1G>A
|
rs2154178615
|
|
NM_001267550.2(TTN):c.669+1G>A
|
rs1574982376
|
|
NM_001267550.2(TTN):c.72503T>G (p.Leu24168Trp)
|
rs964700696
|
|
NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg)
|
rs869320741
|
|
NM_001294332.1(SDHA):c.[313-449G>C;1405A>G]
|
|
|
NM_001458.5(FLNC):c.113A>T (p.Gln38Leu)
|
rs1585147708
|
|
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val)
|
rs1114167361
|
|
NM_001458.5(FLNC):c.710C>T (p.Pro237Leu)
|
rs1585152751
|
|
NM_001843.4(CNTN1):c.1805-9354del
|
rs544761896
|
|
NM_001848.3(COL6A1):c.1575+1G>A
|
rs1002726737
|
|
NM_001848.3(COL6A1):c.56_69dup (p.Glu24fs)
|
rs1603589162
|
|
NM_001848.3(COL6A1):c.869G>A (p.Gly290Glu)
|
rs1603590637
|
|
NM_001849.4(COL6A2):c.1053+2T>C
|
rs2123631474
|
|
NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter)
|
rs387906609
|
|
NM_001849.4(COL6A2):c.1817-3dup
|
rs149954350
|
|
NM_001849.4(COL6A2):c.1976G>C (p.Arg659Pro)
|
rs558005986
|
|
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met)
|
rs794727419
|
|
NM_001849.4(COL6A2):c.901G>T (p.Gly301Cys)
|
rs886042705
|
|
NM_001927.4(DES):c.1091_1108del (p.Gln364_Arg369del)
|
rs1575014889
|
|
NM_001927.4(DES):c.639+4_639+5del
|
rs730880289
|
|
NM_001927.4(DES):c.897+4_897+5del
|
rs397516699
|
|
NM_001953.4(TYMP):c.929-6_929-3del
|
rs201685922
|
|
NM_002693.3(POLG):c.1198G>A (p.Val400Met)
|
rs529639381
|
|
NM_004168.4(SDHA):c.1549A>G (p.Lys517Glu)
|
rs786205210
|
|
NM_004168.4(SDHA):c.622-7C>T
|
rs759371428
|
|
NM_004369.3(COL6A3):c.[6064-5G>A];[6859delC]
|
|
|
NM_004369.4(COL6A3):c.1393C>T (p.Arg465Ter)
|
rs121434554
|
|
NM_004369.4(COL6A3):c.6215_6225del (p.Glu2072fs)
|
rs1574976615
|
|
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn)
|
rs1574975196
|
|
NM_017534.6(MYH2):c.3652C>T (p.Arg1218Ter)
|
rs1187271694
|
|
NM_133379.5(TTN):c.13915G>T (p.Glu4639Ter)
|
rs1430676547
|
|
NM_152263.4(TPM3):c.43G>A (p.Asp15Asn)
|
rs1553251644
|
|
NM_152263.4(TPM3):c.7G>C (p.Glu3Gln)
|
rs1571456678
|
|
m.12207G>A
|
rs118203889
|
|
m.1624C>T
|
rs199476144
|
|
m.3242G>A
|
rs193303018
|
|
m.3251A>G
|
rs199474662
|
|
m.3271T>C
|
rs199474658
|
|
m.3303C>T
|
rs199474660
|
|
m.4284G>A
|
rs121434468
|
|
m.4300A>G
|
rs121434470
|
|
m.5521G>A
|
rs199474673
|
|
m.5532G>A
|
rs199474674
|
|
m.8344A>G
|
rs118192098
|
|
m.8356T>C
|
rs118192099
|
|
m.8363G>A
|
rs118192100
|
|