NM_004637.6(RAB7A):c.*181G>A
|
rs3206306
|
0.03706
|
NM_004637.6(RAB7A):c.*183A>G
|
rs774054837
|
0.03357
|
NM_018972.4(GDAP1):c.*2298A>G
|
rs4551344
|
0.00796
|
NM_018972.4(GDAP1):c.*444A>G
|
rs113377784
|
0.00620
|
NM_002047.2(GARS1):c.-85C>A
|
rs777045330
|
0.00243
|
NM_001605.3(AARS1):c.*324G>A
|
rs141837805
|
0.00173
|
NM_002047.4(GARS1):c.*145C>A
|
rs904772533
|
0.00152
|
NM_018972.4(GDAP1):c.*1141C>T
|
rs566147187
|
0.00141
|
NM_001005361.3(DNM2):c.*185A>C
|
rs570774479
|
0.00135
|
NM_001605.2(AARS1):c.-108T>C
|
rs779683414
|
0.00135
|
NM_018972.4(GDAP1):c.*331C>T
|
rs1052033443
|
0.00119
|
NM_018972.4(GDAP1):c.*931A>G
|
rs532787830
|
0.00097
|
NM_004637.6(RAB7A):c.*85A>G
|
rs549333234
|
0.00085
|
NM_004637.6(RAB7A):c.*274G>A
|
rs565849348
|
0.00083
|
NM_018972.4(GDAP1):c.*751A>G
|
rs544136357
|
0.00078
|
NM_018972.4(GDAP1):c.*1430T>A
|
rs538689570
|
0.00073
|
NM_001376.5(DYNC1H1):c.*194C>T
|
rs566606862
|
0.00064
|
NM_018972.4(GDAP1):c.*2210C>T
|
rs571939530
|
0.00062
|
NM_001005373.4(LRSAM1):c.1860C>T (p.His620=)
|
rs147734401
|
0.00054
|
NM_001005373.4(LRSAM1):c.*121C>T
|
rs899262383
|
0.00053
|
NM_002047.2(GARS1):c.-237A>C
|
rs540431164
|
0.00053
|
NM_014874.4(MFN2):c.756C>T (p.Asn252=)
|
rs137960129
|
0.00053
|
NM_014874.3(MFN2):c.-359C>G
|
rs997846275
|
0.00049
|
NM_014874.3(MFN2):c.-382G>A
|
rs568548916
|
0.00047
|
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)
|
rs149300055
|
0.00042
|
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val)
|
rs148508128
|
0.00040
|
NM_014874.4(MFN2):c.1827C>T (p.Ser609=)
|
rs138724074
|
0.00039
|
NM_001005361.3(DNM2):c.*88C>G
|
rs886054143
|
0.00038
|
NM_001005361.3(DNM2):c.*82C>T
|
rs569502521
|
0.00036
|
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)
|
rs150888094
|
0.00032
|
NM_014874.4(MFN2):c.*413C>T
|
rs558887681
|
0.00031
|
NM_001005373.4(LRSAM1):c.*350C>A
|
rs764119919
|
0.00030
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016
|
0.00030
|
NM_018972.4(GDAP1):c.*873T>C
|
rs573385308
|
0.00028
|
NM_014365.2(HSPB8):c.-480C>G
|
rs886049024
|
0.00026
|
NM_014874.4(MFN2):c.*1054C>T
|
rs951038336
|
0.00025
|
NM_014874.4(MFN2):c.*1539G>A
|
rs557643473
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_018972.4(GDAP1):c.*1415C>T
|
rs558846970
|
0.00023
|
NM_170707.4(LMNA):c.1698+83G>A
|
rs555844506
|
0.00023
|
NM_014365.3(HSPB8):c.-201G>T
|
rs764259720
|
0.00022
|
NM_021625.5(TRPV4):c.*99C>T
|
rs552478250
|
0.00022
|
NM_001605.3(AARS1):c.*131G>A
|
rs555883502
|
0.00021
|
NM_004637.6(RAB7A):c.*402T>A
|
rs950767971
|
0.00021
|
NM_014365.3(HSPB8):c.*788C>T
|
rs975396136
|
0.00021
|
NM_014874.4(MFN2):c.*1535C>T
|
rs778755558
|
0.00021
|
NM_001005361.3(DNM2):c.*79G>A
|
rs550692861
|
0.00020
|
NM_021625.5(TRPV4):c.*500C>T
|
rs929739314
|
0.00020
|
NM_001005373.4(LRSAM1):c.1515G>A (p.Ser505=)
|
rs140066362
|
0.00019
|
NM_001605.3(AARS1):c.1493-7T>C
|
rs376087556
|
0.00019
|
NM_014874.4(MFN2):c.*946C>A
|
rs765105334
|
0.00019
|
NM_018972.4(GDAP1):c.*18C>T
|
rs147945220
|
0.00019
|
NM_001005373.4(LRSAM1):c.-199A>G
|
rs760403428
|
0.00018
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737
|
0.00016
|
NM_014365.3(HSPB8):c.*648A>G
|
rs770364674
|
0.00016
|
NM_014874.4(MFN2):c.*1794_*1796del
|
rs540280019
|
0.00016
|
NM_021625.5(TRPV4):c.1584C>T (p.Asn528=)
|
rs142749412
|
0.00016
|
NM_001376.5(DYNC1H1):c.11366T>C (p.Ile3789Thr)
|
rs775444653
|
0.00015
|
NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=)
|
rs142961295
|
0.00015
|
NM_001005373.4(LRSAM1):c.1199G>A (p.Arg400Gln)
|
rs150344223
|
0.00014
|
NM_001005373.4(LRSAM1):c.894G>A (p.Thr298=)
|
rs771491533
|
0.00014
|
NM_001376.5(DYNC1H1):c.12102+6G>A
|
rs377669980
|
0.00014
|
NM_002047.2(GARS1):c.-80C>T
|
rs886062270
|
0.00014
|
NM_014365.3(HSPB8):c.-314T>C
|
rs754447057
|
0.00014
|
NM_014874.4(MFN2):c.*1276G>A
|
rs766342161
|
0.00014
|
NM_030973.4(MED25):c.1966C>A (p.Pro656Thr)
|
rs199761611
|
0.00014
|
NM_001376.4(DYNC1H1):c.-137C>T
|
rs886050367
|
0.00013
|
NM_014874.4(MFN2):c.*256G>A
|
rs557772799
|
0.00012
|
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met)
|
rs199529910
|
0.00012
|
NM_001005373.4(LRSAM1):c.2110C>T (p.Arg704Cys)
|
rs150984897
|
0.00011
|
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=)
|
rs142338762
|
0.00011
|
NM_014874.4(MFN2):c.*1153C>T
|
rs542684406
|
0.00011
|
NM_014874.4(MFN2):c.*36G>A
|
rs377468070
|
0.00011
|
NM_001005373.4(LRSAM1):c.620-3C>T
|
rs373015900
|
0.00010
|
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=)
|
rs149902566
|
0.00010
|
NM_001605.3(AARS1):c.1253A>G (p.Tyr418Cys)
|
rs147433234
|
0.00010
|
NM_001605.3(AARS1):c.333+3A>C
|
rs747431164
|
0.00010
|
NM_002047.4(GARS1):c.1809+14T>C
|
rs367739730
|
0.00010
|
NM_002047.4(GARS1):c.765G>A (p.Ala255=)
|
rs201447520
|
0.00010
|
NM_014874.4(MFN2):c.*813G>A
|
rs771869272
|
0.00010
|
NM_001005361.3(DNM2):c.*391C>T
|
rs886054147
|
0.00009
|
NM_001005361.3(DNM2):c.633C>T (p.Asp211=)
|
rs200191870
|
0.00009
|
NM_001005373.4(LRSAM1):c.*588T>A
|
rs886063461
|
0.00009
|
NM_001005373.4(LRSAM1):c.1422+15T>A
|
rs372509526
|
0.00009
|
NM_001005373.4(LRSAM1):c.1772C>T (p.Ala591Val)
|
rs139344911
|
0.00009
|
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=)
|
rs144889528
|
0.00009
|
NM_001376.5(DYNC1H1):c.13515+8C>T
|
rs200901713
|
0.00009
|
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=)
|
rs147580834
|
0.00009
|
NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=)
|
rs761916499
|
0.00009
|
NM_004637.6(RAB7A):c.*1142G>A
|
rs747470481
|
0.00009
|
NM_004637.6(RAB7A):c.*989C>G
|
rs1039323764
|
0.00009
|
NM_014365.3(HSPB8):c.*123G>A
|
rs987225344
|
0.00009
|
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg)
|
rs146900850
|
0.00009
|
NM_018972.4(GDAP1):c.*1183G>A
|
rs756257305
|
0.00009
|
NM_018972.4(GDAP1):c.*618C>T
|
rs886063106
|
0.00009
|
NM_018972.4(GDAP1):c.693A>T (p.Pro231=)
|
rs181157785
|
0.00009
|
NM_170707.4(LMNA):c.-138T>C
|
rs886045359
|
0.00009
|
NM_001005373.4(LRSAM1):c.*370C>T
|
rs370358510
|
0.00008
|
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser)
|
rs201575292
|
0.00008
|
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=)
|
rs202004938
|
0.00008
|
NM_001376.5(DYNC1H1):c.9531G>A (p.Leu3177=)
|
rs531438720
|
0.00008
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
NM_001365951.3(KIF1B):c.*3644dup
|
rs775451005
|
0.00007
|
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=)
|
rs35092963
|
0.00007
|
NM_001540.5(HSPB1):c.*116C>T
|
rs368381742
|
0.00007
|
NM_004637.6(RAB7A):c.*165A>T
|
rs886057942
|
0.00007
|
NM_021625.5(TRPV4):c.2320C>T (p.Arg774Cys)
|
rs145102919
|
0.00007
|
NM_001005361.3(DNM2):c.*373G>A
|
rs906210543
|
0.00006
|
NM_001005373.4(LRSAM1):c.*238G>A
|
rs886063459
|
0.00006
|
NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg)
|
rs774806132
|
0.00006
|
NM_001540.5(HSPB1):c.210G>A (p.Ala70=)
|
rs749963653
|
0.00006
|
NM_002047.4(GARS1):c.-36C>T
|
rs531483802
|
0.00006
|
NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser)
|
rs538571144
|
0.00006
|
NM_004637.6(RAB7A):c.*1029A>G
|
rs776759455
|
0.00006
|
NM_014365.2(HSPB8):c.-419A>T
|
rs1011802078
|
0.00006
|
NM_014874.3(MFN2):c.-468G>A
|
rs973376897
|
0.00006
|
NM_018972.2(GDAP1):c.*2675C>T
|
rs957273627
|
0.00006
|
NM_018972.4(GDAP1):c.*1905A>G
|
rs185710169
|
0.00006
|
NM_018972.4(GDAP1):c.1039A>G (p.Met347Val)
|
rs112786851
|
0.00006
|
NM_021625.5(TRPV4):c.*405G>A
|
rs886048937
|
0.00006
|
NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr)
|
rs138396764
|
0.00006
|
NM_021625.5(TRPV4):c.963C>A (p.Gly321=)
|
rs148534854
|
0.00006
|
NM_001005373.4(LRSAM1):c.-189+47C>T
|
rs886063450
|
0.00005
|
NM_001365951.3(KIF1B):c.*2032T>A
|
rs190108168
|
0.00005
|
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=)
|
rs201174299
|
0.00005
|
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=)
|
rs200375220
|
0.00005
|
NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=)
|
rs144921184
|
0.00005
|
NM_001605.3(AARS1):c.1846C>T (p.Arg616Cys)
|
rs372221218
|
0.00005
|
NM_014365.3(HSPB8):c.*803T>C
|
rs886049029
|
0.00005
|
NM_014874.3(MFN2):c.-328T>A
|
rs886045217
|
0.00005
|
NM_014874.4(MFN2):c.*1295G>A
|
rs763783578
|
0.00005
|
NM_018972.4(GDAP1):c.*1301A>G
|
rs779268019
|
0.00005
|
NM_018972.4(GDAP1):c.*1416G>A
|
rs575631045
|
0.00005
|
NM_021625.5(TRPV4):c.*411A>G
|
rs924343915
|
0.00005
|
NM_001005361.3(DNM2):c.-116C>T
|
rs966672075
|
0.00004
|
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=)
|
rs200968756
|
0.00004
|
NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=)
|
rs200903643
|
0.00004
|
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val)
|
rs150118849
|
0.00004
|
NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=)
|
rs536121075
|
0.00004
|
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His)
|
rs912429154
|
0.00004
|
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=)
|
rs375687099
|
0.00004
|
NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=)
|
rs375547282
|
0.00004
|
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln)
|
rs200726600
|
0.00004
|
NM_004637.6(RAB7A):c.*1301A>G
|
rs182528613
|
0.00004
|
NM_004637.6(RAB7A):c.*956G>A
|
rs1421148594
|
0.00004
|
NM_004637.6(RAB7A):c.-18A>G
|
rs886057941
|
0.00004
|
NM_004637.6(RAB7A):c.568A>G (p.Ile190Val)
|
rs147480945
|
0.00004
|
NM_014874.4(MFN2):c.1269G>A (p.Thr423=)
|
rs145994616
|
0.00004
|
NM_018972.2(GDAP1):c.*2723T>C
|
rs886063119
|
0.00004
|
NM_018972.4(GDAP1):c.*1372A>G
|
rs896559706
|
0.00004
|
NM_018972.4(GDAP1):c.*860T>C
|
rs554748057
|
0.00004
|
NM_021625.5(TRPV4):c.*303G>A
|
rs909596433
|
0.00004
|
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu)
|
rs200199102
|
0.00004
|
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)
|
rs397517901
|
0.00004
|
NM_170707.4(LMNA):c.936+12C>T
|
rs199881992
|
0.00004
|
NM_001005361.3(DNM2):c.1423-9C>G
|
rs371006369
|
0.00003
|
NM_001005361.3(DNM2):c.162-9C>A
|
rs200736669
|
0.00003
|
NM_001005361.3(DNM2):c.2560G>T (p.Ala854Ser)
|
rs886054141
|
0.00003
|
NM_001005373.4(LRSAM1):c.1660C>T (p.Arg554Trp)
|
rs757208185
|
0.00003
|
NM_001005373.4(LRSAM1):c.804C>T (p.Leu268=)
|
rs771510127
|
0.00003
|
NM_001376.5(DYNC1H1):c.11460+4G>A
|
rs201518717
|
0.00003
|
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=)
|
rs767564445
|
0.00003
|
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val)
|
rs772070566
|
0.00003
|
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn)
|
rs755333803
|
0.00003
|
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg)
|
rs774004189
|
0.00003
|
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=)
|
rs754446530
|
0.00003
|
NM_001605.3(AARS1):c.*169C>G
|
rs554221793
|
0.00003
|
NM_001605.3(AARS1):c.518A>G (p.Asp173Gly)
|
rs765398055
|
0.00003
|
NM_002047.4(GARS1):c.882-4A>G
|
rs778219649
|
0.00003
|
NM_004637.6(RAB7A):c.*1344G>A
|
rs763557372
|
0.00003
|
NM_014874.4(MFN2):c.*1662T>C
|
rs1020801224
|
0.00003
|
NM_014874.4(MFN2):c.*297T>A
|
rs886045224
|
0.00003
|
NM_014874.4(MFN2):c.2145C>T (p.Ala715=)
|
rs571011689
|
0.00003
|
NM_018972.4(GDAP1):c.*1080G>A
|
rs766481914
|
0.00003
|
NM_018972.4(GDAP1):c.*1437A>C
|
rs557040712
|
0.00003
|
NM_018972.4(GDAP1):c.*1570G>C
|
rs886063114
|
0.00003
|
NM_018972.4(GDAP1):c.*644G>T
|
rs913538379
|
0.00003
|
NM_018972.4(GDAP1):c.*663T>C
|
rs886063107
|
0.00003
|
NM_021625.5(TRPV4):c.1038C>T (p.Tyr346=)
|
rs750086412
|
0.00003
|
NM_021625.5(TRPV4):c.1211G>A (p.Arg404His)
|
rs377257364
|
0.00003
|
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp)
|
rs763302555
|
0.00003
|
NM_021625.5(TRPV4):c.742C>T (p.Arg248Cys)
|
rs370289434
|
0.00003
|
NM_170707.4(LMNA):c.1517A>C (p.His506Pro)
|
rs878855233
|
0.00003
|
NM_170707.4(LMNA):c.937-8C>A
|
rs751707982
|
0.00003
|
NM_001005373.4(LRSAM1):c.*356G>A
|
rs1394418871
|
0.00002
|
NM_001005373.4(LRSAM1):c.*597T>G
|
rs751523580
|
0.00002
|
NM_001005373.4(LRSAM1):c.-302C>T
|
rs1253485349
|
0.00002
|
NM_001005373.4(LRSAM1):c.1159+13A>T
|
rs756667241
|
0.00002
|
NM_001376.5(DYNC1H1):c.*108G>A
|
rs886050378
|
0.00002
|
NM_001376.5(DYNC1H1):c.10575T>C (p.Arg3525=)
|
rs763119040
|
0.00002
|
NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=)
|
rs35143882
|
0.00002
|
NM_001376.5(DYNC1H1):c.11056-10A>G
|
rs751676054
|
0.00002
|
NM_001376.5(DYNC1H1):c.2352C>T (p.Ser784=)
|
rs149028205
|
0.00002
|
NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=)
|
rs755543897
|
0.00002
|
NM_001376.5(DYNC1H1):c.5424A>G (p.Leu1808=)
|
rs770425304
|
0.00002
|
NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=)
|
rs776544497
|
0.00002
|
NM_001376.5(DYNC1H1):c.6883C>G (p.Leu2295Val)
|
rs1412108587
|
0.00002
|
NM_001376.5(DYNC1H1):c.6884T>G (p.Leu2295Arg)
|
rs1422291997
|
0.00002
|
NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=)
|
rs200885538
|
0.00002
|
NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys)
|
rs773658296
|
0.00002
|
NM_001540.5(HSPB1):c.216C>T (p.Ala72=)
|
rs11547168
|
0.00002
|
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met)
|
rs762241422
|
0.00002
|
NM_001605.3(AARS1):c.1375G>A (p.Gly459Arg)
|
rs769182022
|
0.00002
|
NM_001605.3(AARS1):c.2129C>T (p.Pro710Leu)
|
rs754391789
|
0.00002
|
NM_001605.3(AARS1):c.2596G>A (p.Ala866Thr)
|
rs374478964
|
0.00002
|
NM_001605.3(AARS1):c.828C>G (p.Ala276=)
|
rs914414911
|
0.00002
|
NM_004637.6(RAB7A):c.*1343C>T
|
rs576597041
|
0.00002
|
NM_004637.6(RAB7A):c.*702T>G
|
rs886057947
|
0.00002
|
NM_018972.4(GDAP1):c.*1030T>C
|
rs576789317
|
0.00002
|
NM_018972.4(GDAP1):c.*697A>G
|
rs766828605
|
0.00002
|
NM_018972.4(GDAP1):c.374G>A (p.Arg125Gln)
|
rs771810975
|
0.00002
|
NM_021625.5(TRPV4):c.1465G>A (p.Ala489Thr)
|
rs758280554
|
0.00002
|
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala)
|
rs146304351
|
0.00002
|
NM_021625.5(TRPV4):c.651G>A (p.Ala217=)
|
rs371280831
|
0.00002
|
NM_170707.4(LMNA):c.-109G>T
|
rs886045360
|
0.00002
|
NM_170707.4(LMNA):c.-44T>A
|
rs1185731069
|
0.00002
|
NM_170707.4(LMNA):c.1698+57G>A
|
rs557334569
|
0.00002
|
NM_170707.4(LMNA):c.294G>A (p.Glu98=)
|
rs886045363
|
0.00002
|
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser)
|
rs886045364
|
0.00002
|
NM_001005361.3(DNM2):c.*106T>C
|
rs886054144
|
0.00001
|
NM_001005361.3(DNM2):c.*214C>T
|
rs1271831719
|
0.00001
|
NM_001005361.3(DNM2):c.-153G>T
|
rs886054138
|
0.00001
|
NM_001005361.3(DNM2):c.1418A>T (p.Asp473Val)
|
rs766613900
|
0.00001
|
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met)
|
rs759366882
|
0.00001
|
NM_001005361.3(DNM2):c.1772C>T (p.Thr591Met)
|
rs372876881
|
0.00001
|
NM_001005361.3(DNM2):c.1782-6C>T
|
rs963604980
|
0.00001
|
NM_001005361.3(DNM2):c.1962G>A (p.Glu654=)
|
rs746025991
|
0.00001
|
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu)
|
rs779081943
|
0.00001
|
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn)
|
rs1217925152
|
0.00001
|
NM_001005373.4(LRSAM1):c.-127C>A
|
rs1834340914
|
0.00001
|
NM_001005373.4(LRSAM1):c.-188-121A>G
|
rs886063453
|
0.00001
|
NM_001005373.4(LRSAM1):c.-189+127A>G
|
rs1434818116
|
0.00001
|
NM_001005373.4(LRSAM1):c.-78C>T
|
rs886063454
|
0.00001
|
NM_001005373.4(LRSAM1):c.1011C>T (p.Ser337=)
|
rs886063456
|
0.00001
|
NM_001005373.4(LRSAM1):c.1073C>T (p.Ser358Leu)
|
rs886063457
|
0.00001
|
NM_001005373.4(LRSAM1):c.1699-3C>T
|
rs756218616
|
0.00001
|
NM_001005373.4(LRSAM1):c.1834G>A (p.Gly612Ser)
|
rs1203313855
|
0.00001
|
NM_001005373.4(LRSAM1):c.390G>C (p.Gln130His)
|
rs1392820291
|
0.00001
|
NM_001005373.4(LRSAM1):c.598A>G (p.Ile200Val)
|
rs542077582
|
0.00001
|
NM_001005373.4(LRSAM1):c.972G>A (p.Leu324=)
|
rs940085400
|
0.00001
|
NM_001365951.3(KIF1B):c.*1104C>T
|
rs886044995
|
0.00001
|
NM_001365951.3(KIF1B):c.1038-5del
|
rs886044976
|
0.00001
|
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=)
|
rs199792795
|
0.00001
|
NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met)
|
rs1376784009
|
0.00001
|
NM_001376.5(DYNC1H1):c.13719C>T (p.Asn4573=)
|
rs886050377
|
0.00001
|
NM_001376.5(DYNC1H1):c.249G>C (p.Thr83=)
|
rs1024563256
|
0.00001
|
NM_001376.5(DYNC1H1):c.2719-15T>C
|
rs748772899
|
0.00001
|
NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=)
|
rs527943422
|
0.00001
|
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=)
|
rs2273439
|
0.00001
|
NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=)
|
rs773425996
|
0.00001
|
NM_001376.5(DYNC1H1):c.5050G>A (p.Val1684Ile)
|
rs781664182
|
0.00001
|
NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=)
|
rs2048183675
|
0.00001
|
NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=)
|
rs1184080545
|
0.00001
|
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=)
|
rs201817995
|
0.00001
|
NM_001605.3(AARS1):c.*32T>C
|
rs771868425
|
0.00001
|
NM_001605.3(AARS1):c.1059C>T (p.Val353=)
|
rs1054385792
|
0.00001
|
NM_001605.3(AARS1):c.1110G>C (p.Met370Ile)
|
rs1468385890
|
0.00001
|
NM_001605.3(AARS1):c.1120A>G (p.Ile374Val)
|
rs142128800
|
0.00001
|
NM_001605.3(AARS1):c.1633G>A (p.Glu545Lys)
|
rs764124393
|
0.00001
|
NM_001605.3(AARS1):c.2109G>C (p.Val703=)
|
rs777499923
|
0.00001
|
NM_001605.3(AARS1):c.2113G>A (p.Glu705Lys)
|
rs1223915249
|
0.00001
|
NM_001605.3(AARS1):c.2378G>C (p.Arg793Thr)
|
rs886052253
|
0.00001
|
NM_001605.3(AARS1):c.63C>T (p.Asn21=)
|
rs773045737
|
0.00001
|
NM_001605.3(AARS1):c.806C>G (p.Ala269Gly)
|
rs769239545
|
0.00001
|
NM_001605.3(AARS1):c.91A>G (p.Thr31Ala)
|
rs886052256
|
0.00001
|
NM_001605.3(AARS1):c.946G>T (p.Asp316Tyr)
|
rs750331983
|
0.00001
|
NM_001605.3(AARS1):c.962+15C>T
|
rs779150762
|
0.00001
|
NM_002047.2(GARS1):c.-166T>G
|
rs1008764831
|
0.00001
|
NM_002047.4(GARS1):c.1059C>G (p.His353Gln)
|
rs886062273
|
0.00001
|
NM_002047.4(GARS1):c.1188T>C (p.Val396=)
|
rs779184435
|
0.00001
|
NM_002047.4(GARS1):c.1253C>T (p.Thr418Met)
|
rs746139865
|
0.00001
|
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)
|
rs137852647
|
0.00001
|
NM_002047.4(GARS1):c.2211C>T (p.Ile737=)
|
rs886062274
|
0.00001
|
NM_002047.4(GARS1):c.384G>A (p.Leu128=)
|
rs886062272
|
0.00001
|
NM_004637.6(RAB7A):c.*831A>G
|
rs1432428820
|
0.00001
|
NM_005572.3(LMNA):c.-210T>C
|
rs886045356
|
0.00001
|
NM_014365.3(HSPB8):c.*67T>G
|
rs886049026
|
0.00001
|
NM_014365.3(HSPB8):c.-172G>C
|
rs886049025
|
0.00001
|
NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys)
|
rs1011669872
|
0.00001
|
NM_014874.4(MFN2):c.*1222G>A
|
rs531732785
|
0.00001
|
NM_014874.4(MFN2):c.*131G>A
|
rs1639706861
|
0.00001
|
NM_014874.4(MFN2):c.*1902C>T
|
rs933126234
|
0.00001
|
NM_014874.4(MFN2):c.*870C>T
|
rs886045227
|
0.00001
|
NM_014874.4(MFN2):c.2204+13C>T
|
rs200441797
|
0.00001
|
NM_018972.2(GDAP1):c.*2542A>G
|
rs909463010
|
0.00001
|
NM_018972.2(GDAP1):c.*2702T>C
|
rs1809669202
|
0.00001
|
NM_018972.4(GDAP1):c.*1289T>C
|
rs1439179536
|
0.00001
|
NM_018972.4(GDAP1):c.*1527G>A
|
rs886063113
|
0.00001
|
NM_018972.4(GDAP1):c.*1923C>T
|
rs886063116
|
0.00001
|
NM_018972.4(GDAP1):c.*195T>C
|
rs1201095819
|
0.00001
|
NM_018972.4(GDAP1):c.*1968C>T
|
rs567166158
|
0.00001
|
NM_018972.4(GDAP1):c.*1976C>T
|
rs527937918
|
0.00001
|
NM_018972.4(GDAP1):c.*2125A>C
|
rs1231558825
|
0.00001
|
NM_018972.4(GDAP1):c.*926C>A
|
rs1487448268
|
0.00001
|
NM_018972.4(GDAP1):c.*961G>C
|
rs886063110
|
0.00001
|
NM_018972.4(GDAP1):c.471T>G (p.Thr157=)
|
rs886293648
|
0.00001
|
NM_018972.4(GDAP1):c.485-6T>C
|
rs763802909
|
0.00001
|
NM_021625.5(TRPV4):c.*212G>A
|
rs886048938
|
0.00001
|
NM_021625.5(TRPV4):c.*51G>A
|
rs886048939
|
0.00001
|
NM_021625.5(TRPV4):c.-59C>T
|
rs1299040866
|
0.00001
|
NM_021625.5(TRPV4):c.-74G>A
|
rs886048942
|
0.00001
|
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys)
|
rs373049874
|
0.00001
|
NM_021625.5(TRPV4):c.1601T>C (p.Met534Thr)
|
rs775011025
|
0.00001
|
NM_021625.5(TRPV4):c.1700A>T (p.Tyr567Phe)
|
rs763889344
|
0.00001
|
NM_021625.5(TRPV4):c.2162C>G (p.Thr721Arg)
|
rs1423138633
|
0.00001
|
NM_021625.5(TRPV4):c.2236C>G (p.Arg746Gly)
|
rs375189134
|
0.00001
|
NM_021625.5(TRPV4):c.2439C>T (p.Thr813=)
|
rs545589086
|
0.00001
|
NM_021625.5(TRPV4):c.2560G>A (p.Asp854Asn)
|
rs368963822
|
0.00001
|
NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu)
|
rs1193945019
|
0.00001
|
NM_021625.5(TRPV4):c.502G>A (p.Gly168Arg)
|
rs756559560
|
0.00001
|
NM_021625.5(TRPV4):c.622G>A (p.Asp208Asn)
|
rs769445973
|
0.00001
|
NM_021625.5(TRPV4):c.812G>A (p.Arg271His)
|
rs387907219
|
0.00001
|
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)
|
rs749784223
|
0.00001
|
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)
|
rs267607598
|
0.00001
|
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)
|
rs200466188
|
0.00001
|
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)
|
rs60864230
|
0.00001
|
NM_170707.4(LMNA):c.514-11C>T
|
rs886045365
|
0.00001
|
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)
|
rs397517907
|
0.00001
|
NM_170707.4(LMNA):c.953C>T (p.Ala318Val)
|
rs1212920276
|
0.00001
|
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly)
|
rs775159300
|
0.00001
|
NM_001005361.3(DNM2):c.*166G>A
|
rs886054145
|
|
NM_001005361.3(DNM2):c.*379C>T
|
rs953057550
|
|
NM_001005361.3(DNM2):c.*550G>A
|
rs886054148
|
|
NM_001005361.3(DNM2):c.*711T>C
|
rs886054149
|
|
NM_001005361.3(DNM2):c.*716C>T
|
rs2073353055
|
|
NM_001005361.3(DNM2):c.*751T>A
|
rs2073354083
|
|
NM_001005361.3(DNM2):c.-122G>A
|
rs886054139
|
|
NM_001005361.3(DNM2):c.-19G>T
|
rs753599004
|
|
NM_001005361.3(DNM2):c.1354T>G (p.Leu452Val)
|
rs770599060
|
|
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=)
|
rs745748213
|
|
NM_001005361.3(DNM2):c.1493A>G (p.Asn498Ser)
|
rs886054140
|
|
NM_001005361.3(DNM2):c.2194G>A (p.Ala732Thr)
|
rs1360529572
|
|
NM_001005361.3(DNM2):c.2358C>A (p.Gly786=)
|
rs2073288383
|
|
NM_001005361.3(DNM2):c.2432C>T (p.Ser811Phe)
|
rs2073292307
|
|
NM_001005361.3(DNM2):c.2438C>T (p.Pro813Leu)
|
rs1382688319
|
|
NM_001005361.3(DNM2):c.2561C>T (p.Ala854Val)
|
rs776073354
|
|
NM_001005361.3(DNM2):c.625C>T (p.Leu209=)
|
rs927749691
|
|
NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr)
|
rs2071432774
|
|
NM_001005373.4(LRSAM1):c.*392G>T
|
rs1371405396
|
|
NM_001005373.4(LRSAM1):c.*501C>T
|
rs886063460
|
|
NM_001005373.4(LRSAM1):c.*552A>G
|
rs1836474069
|
|
NM_001005373.4(LRSAM1):c.-189+110G>A
|
rs886063451
|
|
NM_001005373.4(LRSAM1):c.-189+120_-189+122del
|
rs749626964
|
|
NM_001005373.4(LRSAM1):c.-308G>A
|
rs3808832
|
|
NM_001005373.4(LRSAM1):c.-35C>T
|
rs989000729
|
|
NM_001005373.4(LRSAM1):c.1035C>T (p.Asp345=)
|
rs766701971
|
|
NM_001005373.4(LRSAM1):c.1347+6C>T
|
rs1588128875
|
|
NM_001005373.4(LRSAM1):c.2115C>T (p.Thr705=)
|
rs1410005477
|
|
NM_001005373.4(LRSAM1):c.2134G>A (p.Asp712Asn)
|
rs1351504702
|
|
NM_001005373.4(LRSAM1):c.528G>A (p.Glu176=)
|
rs1564255509
|
|
NM_001005373.4(LRSAM1):c.593C>A (p.Ala198Glu)
|
rs758867006
|
|
NM_001005373.4(LRSAM1):c.615C>G (p.Cys205Trp)
|
rs886063455
|
|
NM_001005373.4(LRSAM1):c.643C>A (p.Pro215Thr)
|
rs765389102
|
|
NM_001365951.3(KIF1B):c.*1363dup
|
rs567435289
|
|
NM_001365951.3(KIF1B):c.*249CA[13]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*249CA[14]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*249CA[17]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*249CA[18]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*249CA[19]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*281_*282dup
|
rs886044986
|
|
NM_001365951.3(KIF1B):c.*281_*286del
|
rs886044990
|
|
NM_001365951.3(KIF1B):c.*2978dup
|
rs145348144
|
|
NM_001365951.3(KIF1B):c.*454CT[1]
|
rs886044993
|
|
NM_001365951.3(KIF1B):c.*4664_*4665insG
|
rs571589510
|
|
NM_001365951.3(KIF1B):c.883-10_883-7del
|
rs886044975
|
|
NM_001376.4(DYNC1H1):c.-122C>T
|
rs566619022
|
|
NM_001376.5(DYNC1H1):c.*194C>G
|
rs566606862
|
|
NM_001376.5(DYNC1H1):c.*70T>C
|
rs1047475161
|
|
NM_001376.5(DYNC1H1):c.-90C>T
|
rs1256118131
|
|
NM_001376.5(DYNC1H1):c.10320G>A (p.Leu3440=)
|
rs886050371
|
|
NM_001376.5(DYNC1H1):c.10752T>C (p.Asn3584=)
|
rs181445947
|
|
NM_001376.5(DYNC1H1):c.10754+11G>A
|
rs886050372
|
|
NM_001376.5(DYNC1H1):c.10800T>C (p.Ile3600=)
|
rs886050373
|
|
NM_001376.5(DYNC1H1):c.10843C>T (p.Leu3615=)
|
rs886050374
|
|
NM_001376.5(DYNC1H1):c.10858A>G (p.Arg3620Gly)
|
rs2048578052
|
|
NM_001376.5(DYNC1H1):c.11132A>G (p.Gln3711Arg)
|
rs886050375
|
|
NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=)
|
rs567247522
|
|
NM_001376.5(DYNC1H1):c.11609G>A (p.Arg3870Gln)
|
rs2048621150
|
|
NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=)
|
rs777166781
|
|
NM_001376.5(DYNC1H1):c.12887T>C (p.Met4296Thr)
|
rs886050376
|
|
NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=)
|
rs961375016
|
|
NM_001376.5(DYNC1H1):c.13707G>C (p.Thr4569=)
|
rs138571942
|
|
NM_001376.5(DYNC1H1):c.2462C>T (p.Ala821Val)
|
rs1391196036
|
|
NM_001376.5(DYNC1H1):c.2922A>C (p.Pro974=)
|
rs963837216
|
|
NM_001376.5(DYNC1H1):c.3699G>T (p.Gln1233His)
|
rs2048072049
|
|
NM_001376.5(DYNC1H1):c.4279T>C (p.Ser1427Pro)
|
rs2048126886
|
|
NM_001376.5(DYNC1H1):c.4647T>G (p.Gly1549=)
|
rs1595609824
|
|
NM_001376.5(DYNC1H1):c.5049+15G>A
|
rs975753572
|
|
NM_001376.5(DYNC1H1):c.5217C>T (p.Ile1739=)
|
rs886050368
|
|
NM_001376.5(DYNC1H1):c.5422C>A (p.Leu1808Ile)
|
rs879253937
|
|
NM_001376.5(DYNC1H1):c.5523G>A (p.Gln1841=)
|
rs2048192586
|
|
NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=)
|
rs898083162
|
|
NM_001376.5(DYNC1H1):c.6711G>A (p.Leu2237=)
|
rs886050369
|
|
NM_001376.5(DYNC1H1):c.7014+11T>A
|
rs748466861
|
|
NM_001376.5(DYNC1H1):c.7127A>G (p.Asn2376Ser)
|
rs775274723
|
|
NM_001376.5(DYNC1H1):c.7442T>C (p.Met2481Thr)
|
rs2048317566
|
|
NM_001376.5(DYNC1H1):c.8177+12C>T
|
rs367551573
|
|
NM_001376.5(DYNC1H1):c.8178-12A>T
|
rs538986139
|
|
NM_001376.5(DYNC1H1):c.8808T>A (p.Ile2936=)
|
rs886050370
|
|
NM_001376.5(DYNC1H1):c.9138G>A (p.Ser3046=)
|
rs34338935
|
|
NM_001376.5(DYNC1H1):c.9503C>T (p.Thr3168Met)
|
rs2048487270
|
|
NM_001540.4(HSPB1):c.-122G>T
|
rs553127513
|
|
NM_001540.4(HSPB1):c.-129G>T
|
rs886062446
|
|
NM_001540.5(HSPB1):c.*100_*103del
|
rs537392004
|
|
NM_001540.5(HSPB1):c.236G>C (p.Arg79Pro)
|
rs926257693
|
|
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile)
|
rs765142574
|
|
NM_001540.5(HSPB1):c.364+6C>G
|
rs753061670
|
|
NM_001540.5(HSPB1):c.60C>T (p.Arg20=)
|
rs1803014628
|
|
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr)
|
rs367857772
|
|
NM_001540.5(HSPB1):c.615G>A (p.Lys205=)
|
rs1310856057
|
|
NM_001605.3(AARS1):c.1587G>A (p.Leu529=)
|
rs886052255
|
|
NM_001605.3(AARS1):c.1596C>A (p.Thr532=)
|
rs142181559
|
|
NM_001605.3(AARS1):c.1611G>T (p.Glu537Asp)
|
rs371617479
|
|
NM_001605.3(AARS1):c.1762C>T (p.Gln588Ter)
|
rs146946034
|
|
NM_001605.3(AARS1):c.212A>G (p.Asn71Ser)
|
rs757167895
|
|
NM_001605.3(AARS1):c.2240A>G (p.Lys747Arg)
|
rs886052254
|
|
NM_001605.3(AARS1):c.2401-11A>G
|
rs377576408
|
|
NM_001605.3(AARS1):c.2421C>A (p.Ile807=)
|
rs768412428
|
|
NM_001605.3(AARS1):c.342A>C (p.Ala114=)
|
rs190680402
|
|
NM_001605.3(AARS1):c.480-8T>G
|
rs751472610
|
|
NM_001605.3(AARS1):c.501C>T (p.Leu167=)
|
rs1567608510
|
|
NM_002047.2(GARS1):c.-180G>C
|
rs919928419
|
|
NM_002047.2(GARS1):c.-195A>T
|
rs940014942
|
|
NM_002047.2(GARS1):c.-197G>C
|
rs886062269
|
|
NM_002047.2(GARS1):c.-59C>T
|
rs886062271
|
|
NM_002047.2(GARS1):c.-64C>T
|
rs932663016
|
|
NM_002047.2(GARS1):c.-69T>G
|
rs527307703
|
|
NM_002047.4(GARS1):c.*50_*51del
|
rs70983380
|
|
NM_002047.4(GARS1):c.*51del
|
rs70983380
|
|
NM_002047.4(GARS1):c.1143G>C (p.Gln381His)
|
rs1782883200
|
|
NM_002047.4(GARS1):c.1194+3A>C
|
rs1782884805
|
|
NM_002047.4(GARS1):c.1770A>G (p.Glu590=)
|
rs1783175611
|
|
NM_002047.4(GARS1):c.616G>A (p.Val206Ile)
|
rs1584026136
|
|
NM_004637.5(RAB7A):c.-204G>T
|
rs886057938
|
|
NM_004637.5(RAB7A):c.-209_-204dup
|
rs770559386
|
|
NM_004637.6(RAB7A):c.*1079C>T
|
rs141066124
|
|
NM_004637.6(RAB7A):c.*1161C>T
|
rs886057952
|
|
NM_004637.6(RAB7A):c.*1219C>T
|
rs1036501286
|
|
NM_004637.6(RAB7A):c.*182CA[9]
|
rs139417205
|
|
NM_004637.6(RAB7A):c.*317A>G
|
rs1933980298
|
|
NM_004637.6(RAB7A):c.*421_*423del
|
rs886057944
|
|
NM_004637.6(RAB7A):c.*473G>C
|
rs886057945
|
|
NM_004637.6(RAB7A):c.*700C>T
|
rs886057946
|
|
NM_004637.6(RAB7A):c.*801dup
|
rs886057948
|
|
NM_004637.6(RAB7A):c.*819C>A
|
rs772662283
|
|
NM_004637.6(RAB7A):c.*908A>C
|
rs546868558
|
|
NM_004637.6(RAB7A):c.*922A>G
|
rs886057949
|
|
NM_004637.6(RAB7A):c.*929A>T
|
rs886057950
|
|
NM_004637.6(RAB7A):c.*974A>G
|
rs1933994920
|
|
NM_004637.6(RAB7A):c.*997T>G
|
rs3755593
|
|
NM_004637.6(RAB7A):c.-146G>C
|
rs1044292082
|
|
NM_004637.6(RAB7A):c.-154G>A
|
rs886057939
|
|
NM_004637.6(RAB7A):c.-61G>A
|
rs2070377358
|
|
NM_004637.6(RAB7A):c.-70CTC[2]
|
rs763539443
|
|
NM_004637.6(RAB7A):c.277C>T (p.Pro93Ser)
|
rs11549756
|
|
NM_004637.6(RAB7A):c.456T>G (p.Phe152Leu)
|
rs1933833236
|
|
NM_004637.6(RAB7A):c.54-15T>C
|
rs748552184
|
|
NM_005572.3(LMNA):c.-225C>A
|
rs886045355
|
|
NM_005572.3(LMNA):c.-226C>T
|
rs886045354
|
|
NM_014365.2(HSPB8):c.-489G>A
|
rs886049023
|
|
NM_014365.2(HSPB8):c.-522C>G
|
rs981936850
|
|
NM_014365.3(HSPB8):c.*330A>T
|
rs1954730443
|
|
NM_014365.3(HSPB8):c.*504T>C
|
rs886049027
|
|
NM_014365.3(HSPB8):c.*707_*720delinsAAAA
|
rs886049028
|
|
NM_014365.3(HSPB8):c.*848TAA[10]
|
rs60924821
|
|
NM_014365.3(HSPB8):c.*848TAA[9]
|
rs60924821
|
|
NM_014365.3(HSPB8):c.*860T>C
|
rs1223485106
|
|
NM_014365.3(HSPB8):c.432-10T>A
|
rs368810689
|
|
NM_014874.3(MFN2):c.-217C>A
|
rs886045218
|
|
NM_014874.3(MFN2):c.-344C>T
|
rs886045216
|
|
NM_014874.4(MFN2):c.*1068C>T
|
rs886045229
|
|
NM_014874.4(MFN2):c.*121A>G
|
rs886045222
|
|
NM_014874.4(MFN2):c.*1392A>G
|
rs886045230
|
|
NM_014874.4(MFN2):c.*1640del
|
rs35943162
|
|
NM_014874.4(MFN2):c.*1640dup
|
rs35943162
|
|
NM_014874.4(MFN2):c.*1763G>A
|
rs1639769422
|
|
NM_014874.4(MFN2):c.*1797GTT[1]
|
rs140537612
|
|
NM_014874.4(MFN2):c.*381C>A
|
rs966318629
|
|
NM_014874.4(MFN2):c.*57C>T
|
rs886045221
|
|
NM_014874.4(MFN2):c.*610del
|
rs747291228
|
|
NM_014874.4(MFN2):c.*864T>C
|
rs886045226
|
|
NM_014874.4(MFN2):c.*935G>T
|
rs886045228
|
|
NM_014874.4(MFN2):c.1436C>G (p.Ser479Cys)
|
rs1639333679
|
|
NM_014874.4(MFN2):c.153G>T (p.Gln51His)
|
rs886045219
|
|
NM_014874.4(MFN2):c.1631A>G (p.His544Arg)
|
rs1639384043
|
|
NM_014874.4(MFN2):c.1659G>A (p.Val553=)
|
rs886045220
|
|
NM_014874.4(MFN2):c.1716+8A>G
|
rs1639390139
|
|
NM_014874.4(MFN2):c.1938C>A (p.Val646=)
|
rs1040702840
|
|
NM_014874.4(MFN2):c.2211A>G (p.Lys737=)
|
rs1639694970
|
|
NM_014874.4(MFN2):c.271G>A (p.Val91Met)
|
rs1557519001
|
|
NM_014874.4(MFN2):c.708G>A (p.Thr236=)
|
rs1557524867
|
|
NM_014874.4(MFN2):c.898C>T (p.Arg300Cys)
|
rs863224066
|
|
NM_018972.4(GDAP1):c.*1043G>C
|
rs762978513
|
|
NM_018972.4(GDAP1):c.*1124G>T
|
rs886063111
|
|
NM_018972.4(GDAP1):c.*1165C>G
|
rs1809586700
|
|
NM_018972.4(GDAP1):c.*1377C>T
|
rs886063112
|
|
NM_018972.4(GDAP1):c.*1779G>T
|
rs886063115
|
|
NM_018972.4(GDAP1):c.*2170A>G
|
rs886063117
|
|
NM_018972.4(GDAP1):c.*2298A>C
|
rs4551344
|
|
NM_018972.4(GDAP1):c.*451C>T
|
rs1809544520
|
|
NM_018972.4(GDAP1):c.*858G>T
|
rs761964880
|
|
NM_018972.4(GDAP1):c.*864G>C
|
rs886063108
|
|
NM_018972.4(GDAP1):c.*898A>G
|
rs886063109
|
|
NM_018972.4(GDAP1):c.296A>T (p.Gln99Leu)
|
rs1808871593
|
|
NM_018972.4(GDAP1):c.719G>C (p.Cys240Ser)
|
rs121908115
|
|
NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg)
|
rs778557691
|
|
NM_018972.4(GDAP1):c.872A>G (p.Lys291Arg)
|
rs1809508613
|
|
NM_021625.4(TRPV4):c.-92G>T
|
rs906360195
|
|
NM_021625.5(TRPV4):c.*145C>T
|
rs1889461810
|
|
NM_021625.5(TRPV4):c.*227A>G
|
rs1889456342
|
|
NM_021625.5(TRPV4):c.*2G>A
|
rs1889473862
|
|
NM_021625.5(TRPV4):c.*421G>A
|
rs1010774371
|
|
NM_021625.5(TRPV4):c.*83C>G
|
rs1360617913
|
|
NM_021625.5(TRPV4):c.1352C>T (p.Ala451Val)
|
rs886048940
|
|
NM_021625.5(TRPV4):c.171T>C (p.Pro57=)
|
rs886048941
|
|
NM_021625.5(TRPV4):c.1796C>G (p.Thr599Arg)
|
rs769225216
|
|
NM_021625.5(TRPV4):c.1825-15C>G
|
rs200602134
|
|
NM_021625.5(TRPV4):c.195A>G (p.Pro65=)
|
rs1891742510
|
|
NM_021625.5(TRPV4):c.2258G>A (p.Arg753Lys)
|
rs1889714023
|
|
NM_021625.5(TRPV4):c.2433G>A (p.Ser811=)
|
rs34071623
|
|
NM_021625.5(TRPV4):c.427C>A (p.Pro143Thr)
|
rs201642486
|
|
NM_021625.5(TRPV4):c.797C>T (p.Ala266Val)
|
rs1890720450
|
|
NM_170707.4(LMNA):c.-142C>A
|
rs886045358
|
|
NM_170707.4(LMNA):c.-183C>A
|
rs886045357
|
|
NM_170707.4(LMNA):c.-5C>A
|
rs886045362
|
|
NM_170707.4(LMNA):c.-62C>A
|
rs886045361
|
|
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)
|
rs505058
|
|
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu)
|
rs11575937
|
|
NM_170707.4(LMNA):c.1698+124C>T
|
rs1057516022
|
|
NM_170707.4(LMNA):c.356+12C>A
|
rs1649747809
|
|
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala)
|
rs1651418246
|
|
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser)
|
rs775159300
|
|