NM_024577.4(SH3TC2):c.*8111A>C
|
rs17109205
|
0.24306
|
NM_004637.6(RAB7A):c.*181G>A
|
rs3206306
|
0.03706
|
NM_004637.6(RAB7A):c.*183A>G
|
rs774054837
|
0.03357
|
NM_024577.4(SH3TC2):c.*10864G>A
|
rs189701174
|
0.00853
|
NM_018972.4(GDAP1):c.*2298A>G
|
rs4551344
|
0.00796
|
NM_030962.4(SBF2):c.*1315A>C
|
rs360125
|
0.00723
|
NM_018972.4(GDAP1):c.*444A>G
|
rs113377784
|
0.00620
|
NM_024577.4(SH3TC2):c.*10052C>T
|
rs113802539
|
0.00525
|
NM_001370298.3(FGD4):c.*2487C>A
|
rs188600194
|
0.00503
|
NM_016156.6(MTMR2):c.547G>T (p.Ala183Ser)
|
rs142155860
|
0.00492
|
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr)
|
rs117336941
|
0.00456
|
NM_024577.4(SH3TC2):c.*3430T>A
|
rs184043381
|
0.00400
|
NM_001370298.3(FGD4):c.*2813C>T
|
rs148195158
|
0.00358
|
NM_024577.4(SH3TC2):c.*5689A>C
|
rs537285537
|
0.00334
|
NM_181882.3(PRX):c.3802G>C (p.Ala1268Pro)
|
rs146061247
|
0.00332
|
NM_024577.4(SH3TC2):c.*5368C>T
|
rs189202481
|
0.00329
|
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)
|
rs146920285
|
0.00306
|
NM_024577.4(SH3TC2):c.*13598A>G
|
rs141011337
|
0.00299
|
NM_001370298.3(FGD4):c.*795G>A
|
rs112398567
|
0.00271
|
NM_001370298.3(FGD4):c.*1485T>C
|
rs55970127
|
0.00268
|
NM_002047.2(GARS1):c.-85C>A
|
rs777045330
|
0.00243
|
NM_016156.6(MTMR2):c.*1826C>A
|
rs145394232
|
0.00242
|
NM_001370298.3(FGD4):c.*2462C>A
|
rs575272682
|
0.00231
|
NM_024577.4(SH3TC2):c.*16056C>T
|
rs147906062
|
0.00226
|
NM_024577.4(SH3TC2):c.*15125C>G
|
rs181229340
|
0.00206
|
NM_024577.4(SH3TC2):c.*578C>T
|
rs567100275
|
0.00206
|
NM_006096.4(NDRG1):c.331A>C (p.Met111Leu)
|
rs2233328
|
0.00201
|
NM_016156.6(MTMR2):c.*825G>A
|
rs192257681
|
0.00201
|
NM_024577.4(SH3TC2):c.*13465C>A
|
rs186009343
|
0.00201
|
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser)
|
rs148939995
|
0.00191
|
NM_001370298.3(FGD4):c.167-61923G>A
|
rs184708096
|
0.00190
|
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys)
|
rs147587689
|
0.00185
|
NM_001605.3(AARS1):c.*324G>A
|
rs141837805
|
0.00173
|
NM_024577.4(SH3TC2):c.*7917A>G
|
rs546816780
|
0.00173
|
NM_016156.6(MTMR2):c.*207A>G
|
rs185702937
|
0.00170
|
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro)
|
rs116750638
|
0.00169
|
NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr)
|
rs138160928
|
0.00168
|
NM_024577.4(SH3TC2):c.*3058A>G
|
rs563916447
|
0.00168
|
NM_024577.4(SH3TC2):c.3813C>T (p.Ser1271=)
|
rs140985600
|
0.00166
|
NM_001370298.3(FGD4):c.666A>T (p.Ala222=)
|
rs139357821
|
0.00161
|
NM_024577.4(SH3TC2):c.*15639A>G
|
rs190478262
|
0.00160
|
NM_024577.4(SH3TC2):c.*20773G>T
|
rs113020040
|
0.00155
|
NM_024577.4(SH3TC2):c.*7006T>C
|
rs187720692
|
0.00154
|
NM_024577.4(SH3TC2):c.*10105C>T
|
rs753563756
|
0.00153
|
NM_024577.4(SH3TC2):c.*1982C>A
|
rs535127091
|
0.00153
|
NM_002047.4(GARS1):c.*145C>A
|
rs904772533
|
0.00152
|
NM_014845.6(FIG4):c.-132A>G
|
rs548471516
|
0.00150
|
NM_024577.4(SH3TC2):c.*20882A>G
|
rs112269889
|
0.00150
|
NM_001370298.3(FGD4):c.*1351A>T
|
rs558890776
|
0.00149
|
NM_001370298.3(FGD4):c.*5389A>G
|
rs566628332
|
0.00148
|
NM_024577.4(SH3TC2):c.*21658A>G
|
rs145964634
|
0.00146
|
NM_181882.3(PRX):c.-114T>G
|
rs367716653
|
0.00145
|
NM_024577.4(SH3TC2):c.*1720T>A
|
rs148473467
|
0.00143
|
NM_018972.4(GDAP1):c.*1141C>T
|
rs566147187
|
0.00141
|
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr)
|
rs145871479
|
0.00140
|
NM_181882.3(PRX):c.719G>A (p.Arg240Gln)
|
rs77917609
|
0.00140
|
NM_024577.4(SH3TC2):c.*2361A>T
|
rs146327509
|
0.00137
|
NM_181882.3(PRX):c.1574T>C (p.Val525Ala)
|
rs149715830
|
0.00136
|
NM_001005361.3(DNM2):c.*185A>C
|
rs570774479
|
0.00135
|
NM_001605.2(AARS1):c.-108T>C
|
rs779683414
|
0.00135
|
NM_024577.4(SH3TC2):c.*4935A>T
|
rs149921013
|
0.00135
|
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala)
|
rs141649676
|
0.00133
|
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met)
|
rs61753359
|
0.00131
|
NM_014845.6(FIG4):c.446+9G>A
|
rs190287033
|
0.00128
|
NM_024577.4(SH3TC2):c.*4691C>T
|
rs574710725
|
0.00126
|
NM_024577.4(SH3TC2):c.*3202T>C
|
rs188625202
|
0.00120
|
NM_018972.4(GDAP1):c.*331C>T
|
rs1052033443
|
0.00119
|
NM_003680.4(YARS1):c.*599A>C
|
rs542816112
|
0.00118
|
NM_024577.4(SH3TC2):c.*16928A>G
|
rs760134609
|
0.00118
|
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)
|
rs139192433
|
0.00108
|
NM_181882.3(PRX):c.823C>A (p.Leu275Ile)
|
rs200033507
|
0.00108
|
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn)
|
rs139188673
|
0.00105
|
NM_006096.4(NDRG1):c.789G>A (p.Ser263=)
|
rs61755062
|
0.00102
|
NM_030962.4(SBF2):c.777G>A (p.Pro259=)
|
rs142261202
|
0.00102
|
NM_024577.4(SH3TC2):c.*5277G>T
|
rs529868327
|
0.00099
|
NM_018972.4(GDAP1):c.*931A>G
|
rs532787830
|
0.00097
|
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser)
|
rs147826200
|
0.00093
|
NM_006096.4(NDRG1):c.*1300G>C
|
rs557737109
|
0.00092
|
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu)
|
rs200967041
|
0.00088
|
NM_001136472.2(LITAF):c.146C>T (p.Thr49Met)
|
rs141862602
|
0.00086
|
NM_014845.6(FIG4):c.1584-8T>A
|
rs199522051
|
0.00086
|
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala)
|
rs148634904
|
0.00086
|
NM_004637.6(RAB7A):c.*85A>G
|
rs549333234
|
0.00085
|
NM_006096.4(NDRG1):c.*31T>G
|
rs573564976
|
0.00084
|
NM_024577.4(SH3TC2):c.*4131T>C
|
rs141113906
|
0.00084
|
NM_004637.6(RAB7A):c.*274G>A
|
rs565849348
|
0.00083
|
NM_024577.4(SH3TC2):c.3315G>A (p.Val1105=)
|
rs375970910
|
0.00083
|
NM_024577.4(SH3TC2):c.*12111C>A
|
rs930165203
|
0.00082
|
NM_024577.4(SH3TC2):c.*10113T>C
|
rs908427102
|
0.00081
|
NM_018972.4(GDAP1):c.*751A>G
|
rs544136357
|
0.00078
|
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala)
|
rs141686828
|
0.00078
|
NM_001370298.3(FGD4):c.167-62008C>A
|
rs187553815
|
0.00076
|
NM_024577.4(SH3TC2):c.*1917C>T
|
rs561485632
|
0.00076
|
NM_016156.6(MTMR2):c.*212A>C
|
rs372852182
|
0.00074
|
NM_018972.4(GDAP1):c.*1430T>A
|
rs538689570
|
0.00073
|
NM_024577.4(SH3TC2):c.*11589C>T
|
rs189059447
|
0.00072
|
NM_024577.4(SH3TC2):c.*9503C>T
|
rs533786708
|
0.00072
|
NM_024577.4(SH3TC2):c.*17662T>C
|
rs556308084
|
0.00070
|
NM_024577.4(SH3TC2):c.*10111T>C
|
rs943889013
|
0.00066
|
NM_001376.5(DYNC1H1):c.*194C>T
|
rs566606862
|
0.00064
|
NM_006096.4(NDRG1):c.-123T>G
|
rs886062718
|
0.00064
|
NM_018972.4(GDAP1):c.*2210C>T
|
rs571939530
|
0.00062
|
NM_024577.4(SH3TC2):c.*20935C>G
|
rs769773057
|
0.00061
|
NM_024577.4(SH3TC2):c.*9830C>T
|
rs557247993
|
0.00061
|
NM_030962.4(SBF2):c.1424A>G (p.Gln475Arg)
|
rs199894823
|
0.00059
|
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His)
|
rs150028248
|
0.00059
|
NM_001370298.3(FGD4):c.*3994A>G
|
rs567853773
|
0.00058
|
NM_003680.3(YARS1):c.-269C>T
|
rs772899682
|
0.00056
|
NM_006096.3(NDRG1):c.-157C>T
|
rs545130040
|
0.00056
|
NM_001005373.4(LRSAM1):c.1860C>T (p.His620=)
|
rs147734401
|
0.00054
|
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)
|
rs141894081
|
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_016156.6(MTMR2):c.1336G>A (p.Glu446Lys)
|
rs146572467
|
0.00053
|
NM_024577.4(SH3TC2):c.*10177T>A
|
rs149759395
|
0.00052
|
NM_024577.4(SH3TC2):c.*21539T>C
|
rs542529184
|
0.00052
|
NM_030962.4(SBF2):c.1408C>A (p.Pro470Thr)
|
rs149967939
|
0.00052
|
NM_181882.3(PRX):c.2728G>A (p.Ala910Thr)
|
rs145203783
|
0.00052
|
NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val)
|
rs142451273
|
0.00051
|
NM_014874.3(MFN2):c.-359C>G
|
rs997846275
|
0.00049
|
NM_024577.4(SH3TC2):c.*9969_*9972del
|
rs113518050
|
0.00048
|
NM_030962.4(SBF2):c.5037C>T (p.Arg1679=)
|
rs200784979
|
0.00048
|
NM_000399.5(EGR2):c.*646C>T
|
rs555024997
|
0.00047
|
NM_014874.3(MFN2):c.-382G>A
|
rs568548916
|
0.00047
|
NM_181882.3(PRX):c.1651G>A (p.Val551Met)
|
rs61733448
|
0.00047
|
NM_001370298.3(FGD4):c.*5309C>T
|
rs556209722
|
0.00046
|
NM_030962.4(SBF2):c.*875G>A
|
rs886048776
|
0.00046
|
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser)
|
rs146230559
|
0.00046
|
NM_181882.3(PRX):c.2832T>C (p.Ala944=)
|
rs145226687
|
0.00046
|
NM_024577.4(SH3TC2):c.*21703G>A
|
rs761390238
|
0.00045
|
NM_024577.4(SH3TC2):c.*2004A>G
|
rs111746123
|
0.00044
|
NM_003680.4(YARS1):c.*539A>G
|
rs550239801
|
0.00043
|
NM_024577.4(SH3TC2):c.*12710G>A
|
rs537800973
|
0.00043
|
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr)
|
rs144688852
|
0.00043
|
NM_030962.4(SBF2):c.*631T>C
|
rs573284772
|
0.00043
|
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)
|
rs149300055
|
0.00042
|
NM_030962.4(SBF2):c.*1439C>A
|
rs531522907
|
0.00042
|
NM_030962.4(SBF2):c.*1441C>T
|
rs562275980
|
0.00042
|
NM_181882.3(PRX):c.966G>T (p.Val322=)
|
rs139544245
|
0.00042
|
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val)
|
rs148508128
|
0.00040
|
NM_024577.4(SH3TC2):c.*4511T>C
|
rs578024597
|
0.00040
|
NM_024577.4(SH3TC2):c.*9972T>C
|
rs778531473
|
0.00040
|
NM_006096.4(NDRG1):c.944-13C>T
|
rs753312340
|
0.00039
|
NM_014874.4(MFN2):c.1827C>T (p.Ser609=)
|
rs138724074
|
0.00039
|
NM_024577.4(SH3TC2):c.*1616C>T
|
rs758753462
|
0.00039
|
NM_024577.4(SH3TC2):c.*2248A>G
|
rs187399485
|
0.00039
|
NM_001005361.3(DNM2):c.*88C>G
|
rs886054143
|
0.00038
|
NM_024577.4(SH3TC2):c.*15235A>G
|
rs145210501
|
0.00038
|
NM_024577.4(SH3TC2):c.*9969T>C
|
rs761191045
|
0.00037
|
NM_001005361.3(DNM2):c.*82C>T
|
rs569502521
|
0.00036
|
NM_016156.6(MTMR2):c.-81G>A
|
rs772112416
|
0.00036
|
NM_006096.4(NDRG1):c.-64G>A
|
rs886062717
|
0.00035
|
NM_181882.3(PRX):c.3708G>A (p.Ala1236=)
|
rs202119177
|
0.00035
|
NM_000530.8(MPZ):c.*752G>A
|
rs533147214
|
0.00034
|
NM_001370298.3(FGD4):c.*1704C>G
|
rs886049263
|
0.00034
|
NM_000530.8(MPZ):c.*341A>G
|
rs557613782
|
0.00033
|
NM_001370298.3(FGD4):c.740T>C (p.Leu247Pro)
|
rs142609007
|
0.00033
|
NM_030962.4(SBF2):c.705T>C (p.Ser235=)
|
rs143209062
|
0.00033
|
NM_181882.3(PRX):c.960G>A (p.Ser320=)
|
rs775367319
|
0.00033
|
NM_001370298.3(FGD4):c.*2374G>T
|
rs753715337
|
0.00032
|
NM_001370298.3(FGD4):c.*3037C>A
|
rs886049267
|
0.00032
|
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)
|
rs150888094
|
0.00032
|
NM_006096.3(NDRG1):c.*1706G>A
|
rs781277187
|
0.00032
|
NM_014874.4(MFN2):c.*413C>T
|
rs558887681
|
0.00031
|
NM_001005373.4(LRSAM1):c.*350C>A
|
rs764119919
|
0.00030
|
NM_001370298.3(FGD4):c.785C>T (p.Thr262Met)
|
rs200732890
|
0.00030
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016
|
0.00030
|
NM_030962.4(SBF2):c.1509A>G (p.Glu503=)
|
rs143773975
|
0.00030
|
NM_030962.4(SBF2):c.3819C>T (p.Ser1273=)
|
rs145351367
|
0.00030
|
NM_001370298.3(FGD4):c.*368T>C
|
rs925762740
|
0.00029
|
NM_006096.4(NDRG1):c.-19+14C>G
|
rs886062716
|
0.00029
|
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)
|
rs138048706
|
0.00029
|
NM_016156.6(MTMR2):c.*1888del
|
rs775823662
|
0.00029
|
NM_030962.4(SBF2):c.*480G>A
|
rs148002177
|
0.00029
|
NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys)
|
rs139217120
|
0.00029
|
NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys)
|
rs141108330
|
0.00029
|
NM_181882.3(PRX):c.361C>T (p.Arg121Trp)
|
rs750435566
|
0.00029
|
NM_018972.4(GDAP1):c.*873T>C
|
rs573385308
|
0.00028
|
NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser)
|
rs144963732
|
0.00028
|
NM_030962.4(SBF2):c.*963C>T
|
rs144512459
|
0.00028
|
NM_024577.4(SH3TC2):c.*44G>A
|
rs200095406
|
0.00027
|
NM_024577.4(SH3TC2):c.*882G>A
|
rs775429372
|
0.00027
|
NM_000166.6(GJB1):c.*277A>G
|
rs759936874
|
0.00026
|
NM_000530.8(MPZ):c.*435T>G
|
rs868502674
|
0.00026
|
NM_014365.2(HSPB8):c.-480C>G
|
rs886049024
|
0.00026
|
NM_024577.4(SH3TC2):c.*20469C>T
|
rs886060097
|
0.00026
|
NM_024577.4(SH3TC2):c.*2716T>C
|
rs577940138
|
0.00026
|
NM_024577.4(SH3TC2):c.2304C>T (p.Leu768=)
|
rs140829706
|
0.00026
|
NM_030962.4(SBF2):c.-101A>C
|
rs886047577
|
0.00026
|
NM_001370298.3(FGD4):c.*5484T>C
|
rs577630567
|
0.00025
|
NM_006096.4(NDRG1):c.*525G>A
|
rs185153183
|
0.00025
|
NM_014874.4(MFN2):c.*1054C>T
|
rs951038336
|
0.00025
|
NM_014874.4(MFN2):c.*1539G>A
|
rs557643473
|
0.00025
|
NM_024577.4(SH3TC2):c.*10546C>T
|
rs186003687
|
0.00025
|
NM_024577.4(SH3TC2):c.*626G>A
|
rs781581124
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_181882.3(PRX):c.1568T>C (p.Leu523Pro)
|
rs550446238
|
0.00025
|
NM_001136472.2(LITAF):c.*500A>G
|
rs767760361
|
0.00024
|
NM_001370298.3(FGD4):c.890G>A (p.Gly297Asp)
|
rs201826412
|
0.00024
|
NM_003680.4(YARS1):c.-110G>A
|
rs748353138
|
0.00024
|
NM_006096.4(NDRG1):c.686A>G (p.Asn229Ser)
|
rs137993172
|
0.00024
|
NM_024577.4(SH3TC2):c.*14827T>A
|
rs569378409
|
0.00024
|
NM_024577.4(SH3TC2):c.*19438C>A
|
rs533701005
|
0.00024
|
NM_018972.4(GDAP1):c.*1415C>T
|
rs558846970
|
0.00023
|
NM_024577.4(SH3TC2):c.*10064C>T
|
rs904197605
|
0.00023
|
NM_024577.4(SH3TC2):c.*5741G>A
|
rs538159827
|
0.00023
|
NM_024577.4(SH3TC2):c.1767C>T (p.Ser589=)
|
rs139898175
|
0.00023
|
NM_170707.4(LMNA):c.1698+83G>A
|
rs555844506
|
0.00023
|
NM_006096.4(NDRG1):c.*1340G>A
|
rs12668
|
0.00022
|
NM_006158.5(NEFL):c.*1744T>C
|
rs886062825
|
0.00022
|
NM_014365.3(HSPB8):c.-201G>T
|
rs764259720
|
0.00022
|
NM_021625.5(TRPV4):c.*99C>T
|
rs552478250
|
0.00022
|
NM_181882.3(PRX):c.993G>A (p.Pro331=)
|
rs146323928
|
0.00022
|
NM_001370298.3(FGD4):c.167-61790C>T
|
rs531501340
|
0.00021
|
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_001370298.3(FGD4):c.*2026A>G
|
rs765502938
|
0.00020
|
NM_001370298.3(FGD4):c.*3543G>C
|
rs753405606
|
0.00020
|
NM_006096.4(NDRG1):c.63+6T>C
|
rs199597649
|
0.00020
|
NM_021625.5(TRPV4):c.*500C>T
|
rs929739314
|
0.00020
|
NM_024577.4(SH3TC2):c.*15967C>T
|
rs139941418
|
0.00020
|
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met)
|
rs139522696
|
0.00020
|
NM_001005373.4(LRSAM1):c.1515G>A (p.Ser505=)
|
rs140066362
|
0.00019
|
NM_001136472.2(LITAF):c.*1364A>C
|
rs775642546
|
0.00019
|
NM_001605.3(AARS1):c.1493-7T>C
|
rs376087556
|
0.00019
|
NM_006096.4(NDRG1):c.1027C>T (p.Arg343Cys)
|
rs146613168
|
0.00019
|
NM_014874.4(MFN2):c.*946C>A
|
rs765105334
|
0.00019
|
NM_018972.4(GDAP1):c.*18C>T
|
rs147945220
|
0.00019
|
NM_181882.3(PRX):c.3209G>A (p.Arg1070Gln)
|
rs146222815
|
0.00019
|
NM_181882.3(PRX):c.500G>C (p.Arg167Pro)
|
rs757322355
|
0.00019
|
NM_001005373.4(LRSAM1):c.-199A>G
|
rs760403428
|
0.00018
|
NM_181882.3(PRX):c.-160C>T
|
rs763423646
|
0.00018
|
NM_014874.4(MFN2):c.2157G>A (p.Lys719=)
|
rs148441213
|
0.00017
|
NM_024577.4(SH3TC2):c.*8649A>G
|
rs914913642
|
0.00017
|
NM_181882.3(PRX):c.3549C>T (p.Tyr1183=)
|
rs367876251
|
0.00017
|
NM_001136472.2(LITAF):c.-6+539G>A
|
rs545189325
|
0.00016
|
NM_001370298.3(FGD4):c.167-61974A>C
|
rs192626243
|
0.00016
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737
|
0.00016
|
NM_014365.3(HSPB8):c.*648A>G
|
rs770364674
|
0.00016
|
NM_014845.6(FIG4):c.-138T>C
|
rs550585093
|
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_024577.4(SH3TC2):c.*11621G>A
|
rs886060128
|
0.00016
|
NM_024577.4(SH3TC2):c.*19411T>C
|
rs780022559
|
0.00016
|
NM_030962.4(SBF2):c.3843A>G (p.Thr1281=)
|
rs147597665
|
0.00016
|
NM_030962.4(SBF2):c.514-12C>T
|
rs770141264
|
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_006096.4(NDRG1):c.*1339C>T
|
rs539924589
|
0.00015
|
NM_006096.4(NDRG1):c.664G>A (p.Gly222Ser)
|
rs199995009
|
0.00015
|
NM_016156.6(MTMR2):c.*910T>A
|
rs555290971
|
0.00015
|
NM_024577.4(SH3TC2):c.*13418G>T
|
rs544487653
|
0.00015
|
NM_024577.4(SH3TC2):c.*20966T>G
|
rs532239431
|
0.00015
|
NM_024577.4(SH3TC2):c.*2394C>T
|
rs368101139
|
0.00015
|
NM_030962.4(SBF2):c.-128C>T
|
rs886047579
|
0.00015
|
NM_030962.4(SBF2):c.1812C>T (p.Asp604=)
|
rs765658939
|
0.00015
|
NM_181882.3(PRX):c.-20A>C
|
rs780315081
|
0.00015
|
NM_000530.8(MPZ):c.*52G>A
|
rs774701563
|
0.00014
|
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_001370298.3(FGD4):c.1046A>G (p.Asn349Ser)
|
rs147969494
|
0.00014
|
NM_001376.5(DYNC1H1):c.12102+6G>A
|
rs377669980
|
0.00014
|
NM_002047.2(GARS1):c.-80C>T
|
rs886062270
|
0.00014
|
NM_006096.4(NDRG1):c.*677C>T
|
rs886062712
|
0.00014
|
NM_014365.3(HSPB8):c.-314T>C
|
rs754447057
|
0.00014
|
NM_014874.4(MFN2):c.*1276G>A
|
rs766342161
|
0.00014
|
NM_016156.6(MTMR2):c.604C>G (p.Pro202Ala)
|
rs186380748
|
0.00014
|
NM_024577.4(SH3TC2):c.*1545A>G
|
rs898075581
|
0.00014
|
NM_030962.4(SBF2):c.*608G>C
|
rs776490076
|
0.00014
|
NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu)
|
rs145199888
|
0.00014
|
NM_030962.4(SBF2):c.3754A>T (p.Ser1252Cys)
|
rs139967004
|
0.00014
|
NM_030973.4(MED25):c.1966C>A (p.Pro656Thr)
|
rs199761611
|
0.00014
|
NM_181882.3(PRX):c.1026A>C (p.Ala342=)
|
rs150772010
|
0.00014
|
NM_181882.3(PRX):c.2449C>T (p.Arg817Cys)
|
rs147441856
|
0.00014
|
NM_001136472.2(LITAF):c.-6+657C>A
|
rs374282727
|
0.00013
|
NM_001370298.3(FGD4):c.*1354A>G
|
rs886049261
|
0.00013
|
NM_001370298.3(FGD4):c.*4756A>G
|
rs763037960
|
0.00013
|
NM_001370298.3(FGD4):c.*5223G>A
|
rs886049280
|
0.00013
|
NM_001370298.3(FGD4):c.2506A>G (p.Met836Val)
|
rs140220443
|
0.00013
|
NM_001376.4(DYNC1H1):c.-137C>T
|
rs886050367
|
0.00013
|
NM_006096.4(NDRG1):c.*2C>T
|
rs200367524
|
0.00013
|
NM_006096.4(NDRG1):c.528C>T (p.Ala176=)
|
rs191237702
|
0.00013
|
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro)
|
rs758191113
|
0.00013
|
NM_014845.6(FIG4):c.-84A>G
|
rs764845399
|
0.00013
|
NM_014845.6(FIG4):c.205C>T (p.Arg69Cys)
|
rs540674198
|
0.00013
|
NM_016156.6(MTMR2):c.*133C>G
|
rs367677499
|
0.00013
|
NM_024577.4(SH3TC2):c.*15383C>A
|
rs186004627
|
0.00013
|
NM_024577.4(SH3TC2):c.*2500C>A
|
rs559833500
|
0.00013
|
NM_024577.4(SH3TC2):c.*3903A>G
|
rs750071171
|
0.00013
|
NM_024577.4(SH3TC2):c.*5304G>A
|
rs886060171
|
0.00013
|
NM_024577.4(SH3TC2):c.*7391A>C
|
rs886060159
|
0.00013
|
NM_024577.4(SH3TC2):c.3049G>A (p.Ala1017Thr)
|
rs186029710
|
0.00013
|
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp)
|
rs149762843
|
0.00013
|
NM_001370298.3(FGD4):c.167-61842A>G
|
rs56168193
|
0.00012
|
NM_014845.6(FIG4):c.1271+5A>G
|
rs374583399
|
0.00012
|
NM_014874.4(MFN2):c.*256G>A
|
rs557772799
|
0.00012
|
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met)
|
rs199529910
|
0.00012
|
NM_024577.4(SH3TC2):c.*14429T>G
|
rs577465518
|
0.00012
|
NM_024577.4(SH3TC2):c.*14480A>G
|
rs564255234
|
0.00012
|
NM_024577.4(SH3TC2):c.*20400A>C
|
rs1019391321
|
0.00012
|
NM_024577.4(SH3TC2):c.*4182A>G
|
rs886060177
|
0.00012
|
NM_024577.4(SH3TC2):c.*5748G>A
|
rs1038952809
|
0.00012
|
NM_181882.3(PRX):c.2229C>T (p.Pro743=)
|
rs144975214
|
0.00012
|
NM_001005373.4(LRSAM1):c.2110C>T (p.Arg704Cys)
|
rs150984897
|
0.00011
|
NM_001370298.3(FGD4):c.*2192G>A
|
rs568095427
|
0.00011
|
NM_001370298.3(FGD4):c.1142C>T (p.Ser381Leu)
|
rs201915829
|
0.00011
|
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=)
|
rs142338762
|
0.00011
|
NM_014845.6(FIG4):c.1863C>A (p.Thr621=)
|
rs201744761
|
0.00011
|
NM_014874.4(MFN2):c.*1153C>T
|
rs542684406
|
0.00011
|
NM_014874.4(MFN2):c.*36G>A
|
rs377468070
|
0.00011
|
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys)
|
rs369762154
|
0.00011
|
NM_024577.4(SH3TC2):c.*12088_*12091del
|
rs886060127
|
0.00011
|
NM_024577.4(SH3TC2):c.*19019T>C
|
rs777292025
|
0.00011
|
NM_024577.4(SH3TC2):c.*19989G>A
|
rs560779315
|
0.00011
|
NM_024577.4(SH3TC2):c.*8878T>A
|
rs886060151
|
0.00011
|
NM_030962.4(SBF2):c.4712A>G (p.Asn1571Ser)
|
rs371960255
|
0.00011
|
NM_001005373.4(LRSAM1):c.620-3C>T
|
rs373015900
|
0.00010
|
NM_001136472.2(LITAF):c.*1054A>C
|
rs967890581
|
0.00010
|
NM_001136472.2(LITAF):c.*598G>A
|
rs367546754
|
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_006096.4(NDRG1):c.-8G>A
|
rs200465804
|
0.00010
|
NM_006096.4(NDRG1):c.874C>A (p.Leu292Ile)
|
rs745520295
|
0.00010
|
NM_014874.4(MFN2):c.*813G>A
|
rs771869272
|
0.00010
|
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser)
|
rs147136530
|
0.00010
|
NM_016156.6(MTMR2):c.1843C>G (p.Gln615Glu)
|
rs886048770
|
0.00010
|
NM_024577.4(SH3TC2):c.*11542G>A
|
rs886060130
|
0.00010
|
NM_024577.4(SH3TC2):c.*15824G>A
|
rs530880070
|
0.00010
|
NM_024577.4(SH3TC2):c.*19631T>A
|
rs961541157
|
0.00010
|
NM_024577.4(SH3TC2):c.*20362T>C
|
rs571268825
|
0.00010
|
NM_024577.4(SH3TC2):c.*5740C>T
|
rs886060167
|
0.00010
|
NM_024577.4(SH3TC2):c.3413G>A (p.Ser1138Asn)
|
rs150805608
|
0.00010
|
NM_030962.4(SBF2):c.2474A>G (p.Lys825Arg)
|
rs753921188
|
0.00010
|
NM_181882.3(PRX):c.2909G>A (p.Arg970Gln)
|
rs764162630
|
0.00010
|
NM_181882.3(PRX):c.4118G>A (p.Arg1373Gln)
|
rs763294661
|
0.00010
|
NM_000166.6(GJB1):c.*402G>A
|
rs753223616
|
0.00009
|
NM_000399.5(EGR2):c.*618T>C
|
rs748486219
|
0.00009
|
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_001370298.3(FGD4):c.1543+13T>C
|
rs762177862
|
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_006096.4(NDRG1):c.*1299C>T
|
rs926267815
|
0.00009
|
NM_006096.4(NDRG1):c.663C>T (p.Pro221=)
|
rs377225752
|
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_014845.6(FIG4):c.350C>T (p.Ala117Val)
|
rs551339249
|
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_024577.4(SH3TC2):c.*10132A>G
|
rs886060138
|
0.00009
|
NM_024577.4(SH3TC2):c.*10863C>T
|
rs181346624
|
0.00009
|
NM_024577.4(SH3TC2):c.*14985A>G
|
rs886060116
|
0.00009
|
NM_024577.4(SH3TC2):c.*16590A>G
|
rs564063667
|
0.00009
|
NM_024577.4(SH3TC2):c.*21395T>C
|
rs886060094
|
0.00009
|
NM_024577.4(SH3TC2):c.*22034C>T
|
rs886060093
|
0.00009
|
NM_024577.4(SH3TC2):c.*9026A>T
|
rs1000086928
|
0.00009
|
NM_024577.4(SH3TC2):c.*9034A>G
|
rs750855366
|
0.00009
|
NM_024577.4(SH3TC2):c.1002-7G>A
|
rs752528409
|
0.00009
|
NM_024577.4(SH3TC2):c.280-5C>T
|
rs201937366
|
0.00009
|
NM_024577.4(SH3TC2):c.549C>T (p.Ala183=)
|
rs147013935
|
0.00009
|
NM_030962.4(SBF2):c.*78G>C
|
rs184117822
|
0.00009
|
NM_030962.4(SBF2):c.1296+13T>C
|
rs376685939
|
0.00009
|
NM_170707.4(LMNA):c.-138T>C
|
rs886045359
|
0.00009
|
NM_181882.3(PRX):c.4111C>T (p.Arg1371Trp)
|
rs753339248
|
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_014845.6(FIG4):c.-112G>A
|
rs757848529
|
0.00008
|
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys)
|
rs150301327
|
0.00008
|
NM_024577.4(SH3TC2):c.*22208T>C
|
rs756451967
|
0.00008
|
NM_024577.4(SH3TC2):c.*2982T>C
|
rs886060180
|
0.00008
|
NM_024577.4(SH3TC2):c.*4576G>T
|
rs996951340
|
0.00008
|
NM_024577.4(SH3TC2):c.1105C>T (p.Arg369Cys)
|
rs569974719
|
0.00008
|
NM_030962.4(SBF2):c.946C>T (p.Leu316=)
|
rs374841593
|
0.00008
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
NM_181882.3(PRX):c.1369G>A (p.Glu457Lys)
|
rs142064826
|
0.00008
|
NM_181882.3(PRX):c.1546C>T (p.Arg516Trp)
|
rs144305922
|
0.00008
|
NM_181882.3(PRX):c.3271G>A (p.Ala1091Thr)
|
rs368459753
|
0.00008
|
NM_000166.6(GJB1):c.-128G>A
|
rs1057515983
|
0.00007
|
NM_000530.8(MPZ):c.*1020G>A
|
rs886045472
|
0.00007
|
NM_000530.8(MPZ):c.*102C>T
|
rs774748921
|
0.00007
|
NM_001365951.3(KIF1B):c.*3644dup
|
rs775451005
|
0.00007
|
NM_001370298.3(FGD4):c.*1356T>G
|
rs886049262
|
0.00007
|
NM_001370298.3(FGD4):c.*4977G>C
|
rs575914495
|
0.00007
|
NM_001370298.3(FGD4):c.167-62000T>C
|
rs886049252
|
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_003680.4(YARS1):c.*399G>A
|
rs890588915
|
0.00007
|
NM_004637.6(RAB7A):c.*165A>T
|
rs886057942
|
0.00007
|
NM_006096.4(NDRG1):c.*402C>T
|
rs551081194
|
0.00007
|
NM_006096.4(NDRG1):c.1101C>T (p.Ser367=)
|
rs201959970
|
0.00007
|
NM_014845.6(FIG4):c.2096G>A (p.Arg699His)
|
rs750091928
|
0.00007
|
NM_016156.6(MTMR2):c.894A>T (p.Glu298Asp)
|
rs200898934
|
0.00007
|
NM_021625.5(TRPV4):c.2320C>T (p.Arg774Cys)
|
rs145102919
|
0.00007
|
NM_024577.4(SH3TC2):c.*15062G>A
|
rs886060115
|
0.00007
|
NM_024577.4(SH3TC2):c.*2118G>A
|
rs115163989
|
0.00007
|
NM_024577.4(SH3TC2):c.*4947G>A
|
rs1012023269
|
0.00007
|
NM_024577.4(SH3TC2):c.1507G>A (p.Glu503Lys)
|
rs78346510
|
0.00007
|
NM_181882.3(PRX):c.922A>G (p.Thr308Ala)
|
rs753330520
|
0.00007
|
NM_001005361.3(DNM2):c.*373G>A
|
rs906210543
|
0.00006
|
NM_001005373.4(LRSAM1):c.*238G>A
|
rs886063459
|
0.00006
|
NM_001136472.2(LITAF):c.*1879A>G
|
rs760630375
|
0.00006
|
NM_001136472.2(LITAF):c.310G>A (p.Val104Met)
|
rs373445989
|
0.00006
|
NM_001370298.3(FGD4):c.*2648G>A
|
rs1041987634
|
0.00006
|
NM_001370298.3(FGD4):c.*3044T>C
|
rs747748956
|
0.00006
|
NM_001370298.3(FGD4):c.*3940G>A
|
rs549337235
|
0.00006
|
NM_001370298.3(FGD4):c.*4925A>T
|
rs886049276
|
0.00006
|
NM_001370298.3(FGD4):c.*5321G>A
|
rs1013226199
|
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_003680.4(YARS1):c.*369G>A
|
rs879511403
|
0.00006
|
NM_004637.6(RAB7A):c.*1029A>G
|
rs776759455
|
0.00006
|
NM_006096.4(NDRG1):c.270C>T (p.Ala90=)
|
rs200328537
|
0.00006
|
NM_006158.5(NEFL):c.*1101G>A
|
rs527471303
|
0.00006
|
NM_014365.2(HSPB8):c.-419A>T
|
rs1011802078
|
0.00006
|
NM_014874.3(MFN2):c.-468G>A
|
rs973376897
|
0.00006
|
NM_016156.6(MTMR2):c.1431G>A (p.Ser477=)
|
rs200285624
|
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_024577.4(SH3TC2):c.*11357G>A
|
rs147502432
|
0.00006
|
NM_024577.4(SH3TC2):c.*11680C>T
|
rs893213252
|
0.00006
|
NM_024577.4(SH3TC2):c.*1254T>C
|
rs752672326
|
0.00006
|
NM_024577.4(SH3TC2):c.*1310G>A
|
rs886060184
|
0.00006
|
NM_024577.4(SH3TC2):c.*16261C>T
|
rs150690882
|
0.00006
|
NM_024577.4(SH3TC2):c.*21371A>G
|
rs768014940
|
0.00006
|
NM_024577.4(SH3TC2):c.*2729T>C
|
rs555581492
|
0.00006
|
NM_024577.4(SH3TC2):c.*341A>G
|
rs868833114
|
0.00006
|
NM_024577.4(SH3TC2):c.*6557T>C
|
rs199797914
|
0.00006
|
NM_024577.4(SH3TC2):c.*7189C>A
|
rs886060163
|
0.00006
|
NM_024577.4(SH3TC2):c.*7269A>G
|
rs763490898
|
0.00006
|
NM_024577.4(SH3TC2):c.*7452G>A
|
rs761137746
|
0.00006
|
NM_024577.4(SH3TC2):c.*8521C>A
|
rs886060152
|
0.00006
|
NM_024577.4(SH3TC2):c.1721A>G (p.Asn574Ser)
|
rs201256776
|
0.00006
|
NM_024577.4(SH3TC2):c.1814G>A (p.Arg605His)
|
rs186864272
|
0.00006
|
NM_024577.4(SH3TC2):c.285C>T (p.Leu95=)
|
rs574669908
|
0.00006
|
NM_030962.4(SBF2):c.*1495T>C
|
rs929359339
|
0.00006
|
NM_030962.4(SBF2):c.*305A>G
|
rs905556733
|
0.00006
|
NM_030962.4(SBF2):c.2424T>A (p.Asn808Lys)
|
rs146868794
|
0.00006
|
NM_030962.4(SBF2):c.2598G>A (p.Pro866=)
|
rs376372877
|
0.00006
|
NM_030962.4(SBF2):c.3006G>T (p.Lys1002Asn)
|
rs572884226
|
0.00006
|
NM_181882.3(PRX):c.*45C>T
|
rs200778472
|
0.00006
|
NM_181882.3(PRX):c.1500A>G (p.Ser500=)
|
rs777104457
|
0.00006
|
NM_181882.3(PRX):c.1828G>A (p.Glu610Lys)
|
rs537664679
|
0.00006
|
NM_181882.3(PRX):c.3799G>A (p.Gly1267Arg)
|
rs542711361
|
0.00006
|
NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln)
|
rs368827070
|
0.00006
|
NM_181882.3(PRX):c.597C>T (p.Ala199=)
|
rs144157275
|
0.00006
|
NM_181882.3(PRX):c.992C>T (p.Pro331Leu)
|
rs566629777
|
0.00006
|
NM_000530.8(MPZ):c.*681A>T
|
rs886045474
|
0.00005
|
NM_001005373.4(LRSAM1):c.-189+47C>T
|
rs886063450
|
0.00005
|
NM_001136472.2(LITAF):c.*882G>A
|
rs535657236
|
0.00005
|
NM_001136472.2(LITAF):c.477G>A (p.Lys159=)
|
rs371453151
|
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_014845.6(FIG4):c.109C>T (p.Arg37Cys)
|
rs368625871
|
0.00005
|
NM_014845.6(FIG4):c.2096+3A>G
|
rs374223402
|
0.00005
|
NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys)
|
rs372846619
|
0.00005
|
NM_014874.3(MFN2):c.-328T>A
|
rs886045217
|
0.00005
|
NM_014874.4(MFN2):c.*1295G>A
|
rs763783578
|
0.00005
|
NM_016156.6(MTMR2):c.1551C>T (p.Phe517=)
|
rs775961979
|
0.00005
|
NM_016156.6(MTMR2):c.80G>C (p.Ser27Thr)
|
rs879253940
|
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_024577.4(SH3TC2):c.*10014T>A
|
rs56162234
|
0.00005
|
NM_024577.4(SH3TC2):c.*12356A>T
|
rs553936023
|
0.00005
|
NM_024577.4(SH3TC2):c.*13923T>C
|
rs534282709
|
0.00005
|
NM_024577.4(SH3TC2):c.*16562G>T
|
rs369963209
|
0.00005
|
NM_024577.4(SH3TC2):c.*17192C>T
|
rs886060104
|
0.00005
|
NM_024577.4(SH3TC2):c.*3993G>C
|
rs138512171
|
0.00005
|
NM_024577.4(SH3TC2):c.*7254A>T
|
rs1054000517
|
0.00005
|
NM_024577.4(SH3TC2):c.*8748G>A
|
rs190904760
|
0.00005
|
NM_030962.4(SBF2):c.4563A>T (p.Leu1521Phe)
|
rs148988271
|
0.00005
|
NM_181882.3(PRX):c.237C>T (p.Asp79=)
|
rs376174896
|
0.00005
|
NM_181882.3(PRX):c.4376C>T (p.Ala1459Val)
|
rs373051724
|
0.00005
|
NM_181882.3(PRX):c.683G>A (p.Arg228His)
|
rs562108874
|
0.00005
|
NM_000530.8(MPZ):c.428C>T (p.Thr143Met)
|
rs750724650
|
0.00004
|
NM_001005361.3(DNM2):c.-116C>T
|
rs966672075
|
0.00004
|
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=)
|
rs200968756
|
0.00004
|
NM_001136472.2(LITAF):c.*193G>A
|
rs886051652
|
0.00004
|
NM_001370298.3(FGD4):c.*1259A>G
|
rs756972257
|
0.00004
|
NM_001370298.3(FGD4):c.*3438C>T
|
rs886049269
|
0.00004
|
NM_001370298.3(FGD4):c.*4862C>A
|
rs886049275
|
0.00004
|
NM_001370298.3(FGD4):c.*5072A>G
|
rs886049278
|
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_003680.4(YARS1):c.685-11A>G
|
rs751943571
|
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_006096.4(NDRG1):c.1155C>T (p.Ala385=)
|
rs774605205
|
0.00004
|
NM_006096.4(NDRG1):c.304G>A (p.Gly102Ser)
|
rs200433822
|
0.00004
|
NM_006158.5(NEFL):c.*1464A>G
|
rs773097050
|
0.00004
|
NM_006158.5(NEFL):c.*1482C>T
|
rs886062827
|
0.00004
|
NM_006158.5(NEFL):c.*51A>G
|
rs538082598
|
0.00004
|
NM_014845.6(FIG4):c.33G>C (p.Ser11=)
|
rs527523781
|
0.00004
|
NM_014874.4(MFN2):c.1269G>A (p.Thr423=)
|
rs145994616
|
0.00004
|
NM_016156.6(MTMR2):c.*2042G>C
|
rs923425383
|
0.00004
|
NM_016156.6(MTMR2):c.655-8A>G
|
rs768562214
|
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_024577.4(SH3TC2):c.*10505A>G
|
rs886060137
|
0.00004
|
NM_024577.4(SH3TC2):c.*12146C>G
|
rs886060123
|
0.00004
|
NM_024577.4(SH3TC2):c.*12256G>T
|
rs753234712
|
0.00004
|
NM_024577.4(SH3TC2):c.*17049C>G
|
rs1330263975
|
0.00004
|
NM_024577.4(SH3TC2):c.*17833T>G
|
rs886060103
|
0.00004
|
NM_024577.4(SH3TC2):c.*18055C>A
|
rs912198904
|
0.00004
|
NM_024577.4(SH3TC2):c.*19250T>A
|
rs886060099
|
0.00004
|
NM_024577.4(SH3TC2):c.*22168C>G
|
rs886060092
|
0.00004
|
NM_024577.4(SH3TC2):c.*3419C>T
|
rs753848228
|
0.00004
|
NM_024577.4(SH3TC2):c.*4604G>A
|
rs886060172
|
0.00004
|
NM_024577.4(SH3TC2):c.*5264G>A
|
rs548009546
|
0.00004
|
NM_024577.4(SH3TC2):c.*6104C>T
|
rs556527140
|
0.00004
|
NM_024577.4(SH3TC2):c.*7898A>G
|
rs1196588420
|
0.00004
|
NM_024577.4(SH3TC2):c.*9073G>C
|
rs886060150
|
0.00004
|
NM_024577.4(SH3TC2):c.*921C>T
|
rs1051987911
|
0.00004
|
NM_024577.4(SH3TC2):c.*9466A>C
|
rs980542009
|
0.00004
|
NM_030962.4(SBF2):c.129G>A (p.Gln43=)
|
rs761285505
|
0.00004
|
NM_030962.4(SBF2):c.3163A>G (p.Ile1055Val)
|
rs142891020
|
0.00004
|
NM_030962.4(SBF2):c.3582C>T (p.Leu1194=)
|
rs201514622
|
0.00004
|
NM_030962.4(SBF2):c.810G>A (p.Thr270=)
|
rs769963369
|
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_181882.3(PRX):c.2620G>A (p.Ala874Thr)
|
rs145790961
|
0.00004
|
NM_181882.3(PRX):c.2690G>A (p.Arg897Gln)
|
rs752531623
|
0.00004
|
NM_181882.3(PRX):c.2715C>A (p.Thr905=)
|
rs188765166
|
0.00004
|
NM_181882.3(PRX):c.3775G>A (p.Glu1259Lys)
|
rs751742049
|
0.00004
|
NM_181882.3(PRX):c.943C>T (p.Arg315Trp)
|
rs763185527
|
0.00004
|
NM_000166.6(GJB1):c.*22C>T
|
rs745547989
|
0.00003
|
NM_000399.5(EGR2):c.*919G>C
|
rs886047087
|
0.00003
|
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_001136472.2(LITAF):c.457G>A (p.Ala153Thr)
|
rs543022814
|
0.00003
|
NM_001370298.3(FGD4):c.*131A>G
|
rs1251131756
|
0.00003
|
NM_001370298.3(FGD4):c.*3482G>T
|
rs886049270
|
0.00003
|
NM_001370298.3(FGD4):c.*3937A>G
|
rs180683152
|
0.00003
|
NM_001370298.3(FGD4):c.*411A>G
|
rs886049256
|
0.00003
|
NM_001370298.3(FGD4):c.*497T>C
|
rs886049257
|
0.00003
|
NM_001370298.3(FGD4):c.*734G>A
|
rs886049258
|
0.00003
|
NM_001370298.3(FGD4):c.461C>G (p.Pro154Arg)
|
rs371407163
|
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_003680.4(YARS1):c.1507G>A (p.Ala503Thr)
|
rs778099655
|
0.00003
|
NM_004637.6(RAB7A):c.*1344G>A
|
rs763557372
|
0.00003
|
NM_006096.4(NDRG1):c.*1195G>T
|
rs561506934
|
0.00003
|
NM_006096.4(NDRG1):c.*306C>T
|
rs886062714
|
0.00003
|
NM_006096.4(NDRG1):c.1087C>T (p.Arg363Cys)
|
rs530143616
|
0.00003
|
NM_006096.4(NDRG1):c.373G>A (p.Val125Ile)
|
rs200593999
|
0.00003
|
NM_006158.5(NEFL):c.564C>G (p.Ala188=)
|
rs1457926450
|
0.00003
|
NM_014845.5(FIG4):c.-152C>A
|
rs1408966015
|
0.00003
|
NM_014845.6(FIG4):c.243A>G (p.Lys81=)
|
rs200257799
|
0.00003
|
NM_014845.6(FIG4):c.2547-11A>G
|
rs745613994
|
0.00003
|
NM_014845.6(FIG4):c.2567C>T (p.Ser856Leu)
|
rs200970494
|
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_016156.6(MTMR2):c.*1150C>T
|
rs886048766
|
0.00003
|
NM_016156.6(MTMR2):c.*190G>A
|
rs886048769
|
0.00003
|
NM_016156.6(MTMR2):c.*335T>C
|
rs1565341245
|
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_024577.4(SH3TC2):c.*1006C>T
|
rs886060185
|
0.00003
|
NM_024577.4(SH3TC2):c.*10573T>C
|
rs886060136
|
0.00003
|
NM_024577.4(SH3TC2):c.*10984G>T
|
rs868782614
|
0.00003
|
NM_024577.4(SH3TC2):c.*11160C>T
|
rs886060132
|
0.00003
|
NM_024577.4(SH3TC2):c.*11927T>C
|
rs75711075
|
0.00003
|
NM_024577.4(SH3TC2):c.*14315A>C
|
rs762925324
|
0.00003
|
NM_024577.4(SH3TC2):c.*18824T>C
|
rs1259040390
|
0.00003
|
NM_024577.4(SH3TC2):c.*19342A>G
|
rs886060098
|
0.00003
|
NM_024577.4(SH3TC2):c.*1942del
|
rs886060183
|
0.00003
|
NM_024577.4(SH3TC2):c.*20412A>T
|
rs774453230
|
0.00003
|
NM_024577.4(SH3TC2):c.*210C>A
|
rs886060192
|
0.00003
|
NM_024577.4(SH3TC2):c.*21118G>T
|
rs886060095
|
0.00003
|
NM_024577.4(SH3TC2):c.*21149A>G
|
rs552963495
|
0.00003
|
NM_024577.4(SH3TC2):c.*21281T>G
|
rs528064272
|
0.00003
|
NM_024577.4(SH3TC2):c.*21532C>A
|
rs763141563
|
0.00003
|
NM_024577.4(SH3TC2):c.*21955A>G
|
rs575501943
|
0.00003
|
NM_024577.4(SH3TC2):c.*22199C>T
|
rs778637809
|
0.00003
|
NM_024577.4(SH3TC2):c.*22505G>T
|
rs1034634583
|
0.00003
|
NM_024577.4(SH3TC2):c.*3034A>C
|
rs547028114
|
0.00003
|
NM_024577.4(SH3TC2):c.*3165G>A
|
rs886060179
|
0.00003
|
NM_024577.4(SH3TC2):c.*3411C>T
|
rs886060178
|
0.00003
|
NM_024577.4(SH3TC2):c.*4232G>A
|
rs886060174
|
0.00003
|
NM_024577.4(SH3TC2):c.*5666A>G
|
rs749263197
|
0.00003
|
NM_024577.4(SH3TC2):c.*7877A>G
|
rs374095669
|
0.00003
|
NM_024577.4(SH3TC2):c.*8217A>G
|
rs768467653
|
0.00003
|
NM_024577.4(SH3TC2):c.*8283A>T
|
rs780934660
|
0.00003
|
NM_024577.4(SH3TC2):c.*932T>A
|
rs886060186
|
0.00003
|
NM_024577.4(SH3TC2):c.*9980_*9981insTATT
|
rs1554119372
|
0.00003
|
NM_024577.4(SH3TC2):c.2398C>T (p.Leu800Phe)
|
rs764616291
|
0.00003
|
NM_024577.4(SH3TC2):c.660G>C (p.Val220=)
|
rs202052720
|
0.00003
|
NM_030962.4(SBF2):c.2457T>G (p.Ile819Met)
|
rs746363004
|
0.00003
|
NM_030962.4(SBF2):c.4107A>C (p.Ser1369=)
|
rs769205402
|
0.00003
|
NM_030962.4(SBF2):c.4733A>G (p.Lys1578Arg)
|
rs775360425
|
0.00003
|
NM_030962.4(SBF2):c.48G>A (p.Glu16=)
|
rs889453292
|
0.00003
|
NM_030962.4(SBF2):c.5041C>T (p.Gln1681Ter)
|
rs1343702415
|
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_181882.3(PRX):c.*152A>G
|
rs886054435
|
0.00003
|
NM_181882.3(PRX):c.*168C>A
|
rs1020596240
|
0.00003
|
NM_181882.3(PRX):c.-143G>A
|
rs559995627
|
0.00003
|
NM_181882.3(PRX):c.2282C>T (p.Pro761Leu)
|
rs530370432
|
0.00003
|
NM_181882.3(PRX):c.2536C>T (p.His846Tyr)
|
rs765595266
|
0.00003
|
NM_181882.3(PRX):c.2850G>C (p.Gly950=)
|
rs770520776
|
0.00003
|
NM_181882.3(PRX):c.2933A>G (p.Lys978Arg)
|
rs767386430
|
0.00003
|
NM_181882.3(PRX):c.4157C>A (p.Pro1386His)
|
rs372582520
|
0.00003
|
NM_181882.3(PRX):c.539C>T (p.Pro180Leu)
|
rs540526276
|
0.00003
|
NM_181882.3(PRX):c.80C>A (p.Thr27Asn)
|
rs1291881750
|
0.00003
|
NM_000399.5(EGR2):c.918C>T (p.Ala306=)
|
rs886047094
|
0.00002
|
NM_000530.8(MPZ):c.*522C>A
|
rs900816889
|
0.00002
|
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_001136472.2(LITAF):c.100C>A (p.Pro34Thr)
|
rs759905004
|
0.00002
|
NM_001370298.3(FGD4):c.*1781G>A
|
rs886049264
|
0.00002
|
NM_001370298.3(FGD4):c.*4832G>A
|
rs1047737160
|
0.00002
|
NM_001370298.3(FGD4):c.*69T>C
|
rs1332829385
|
0.00002
|
NM_001370298.3(FGD4):c.1263A>G (p.Arg421=)
|
rs773609461
|
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_003680.4(YARS1):c.874T>G (p.Tyr292Asp)
|
rs753211165
|
0.00002
|
NM_004637.6(RAB7A):c.*1343C>T
|
rs576597041
|
0.00002
|
NM_004637.6(RAB7A):c.*702T>G
|
rs886057947
|
0.00002
|
NM_006096.3(NDRG1):c.-173G>A
|
rs886062720
|
0.00002
|
NM_006096.4(NDRG1):c.*184G>A
|
rs778104868
|
0.00002
|
NM_006096.4(NDRG1):c.*791C>T
|
rs1174133451
|
0.00002
|
NM_006096.4(NDRG1):c.*91G>A
|
rs926781207
|
0.00002
|
NM_006096.4(NDRG1):c.4T>G (p.Ser2Ala)
|
rs781381539
|
0.00002
|
NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys)
|
rs138285479
|
0.00002
|
NM_006096.4(NDRG1):c.894G>A (p.Pro298=)
|
rs368061370
|
0.00002
|
NM_006158.5(NEFL):c.*1383C>T
|
rs1172304666
|
0.00002
|
NM_006158.5(NEFL):c.45G>A (p.Lys15=)
|
rs62636518
|
0.00002
|
NM_014845.6(FIG4):c.1482C>T (p.Asn494=)
|
rs776928002
|
0.00002
|
NM_014845.6(FIG4):c.2547-4A>G
|
rs886060985
|
0.00002
|
NM_014845.6(FIG4):c.2690T>C (p.Met897Thr)
|
rs764958115
|
0.00002
|
NM_016156.6(MTMR2):c.*2357T>C
|
rs886048762
|
0.00002
|
NM_016156.6(MTMR2):c.*660G>A
|
rs886048768
|
0.00002
|
NM_016156.6(MTMR2):c.-89C>G
|
rs868256702
|
0.00002
|
NM_016156.6(MTMR2):c.1450A>G (p.Ile484Val)
|
rs886048771
|
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_022753.4(S100PBP):c.-150G>A
|
rs918787397
|
0.00002
|
NM_024577.4(SH3TC2):c.*12010C>A
|
rs1221405889
|
0.00002
|
NM_024577.4(SH3TC2):c.*12126C>T
|
rs886060124
|
0.00002
|
NM_024577.4(SH3TC2):c.*12653C>A
|
rs886060121
|
0.00002
|
NM_024577.4(SH3TC2):c.*16257T>C
|
rs572081330
|
0.00002
|
NM_024577.4(SH3TC2):c.*16855A>G
|
rs886060108
|
0.00002
|
NM_024577.4(SH3TC2):c.*20618C>T
|
rs370869298
|
0.00002
|
NM_024577.4(SH3TC2):c.*3707C>T
|
rs548127285
|
0.00002
|
NM_024577.4(SH3TC2):c.*4409T>A
|
rs886060173
|
0.00002
|
NM_024577.4(SH3TC2):c.*5305C>A
|
rs886060170
|
0.00002
|
NM_024577.4(SH3TC2):c.*5576C>T
|
rs886060168
|
0.00002
|
NM_024577.4(SH3TC2):c.*5747C>T
|
rs886060166
|
0.00002
|
NM_024577.4(SH3TC2):c.*6682G>C
|
rs557452648
|
0.00002
|
NM_024577.4(SH3TC2):c.*7064A>G
|
rs1027337341
|
0.00002
|
NM_024577.4(SH3TC2):c.*8567G>A
|
rs369239776
|
0.00002
|
NM_024577.4(SH3TC2):c.*9233T>A
|
rs886060148
|
0.00002
|
NM_024577.4(SH3TC2):c.1830G>A (p.Lys610=)
|
rs370025626
|
0.00002
|
NM_024577.4(SH3TC2):c.2671G>A (p.Ala891Thr)
|
rs779223727
|
0.00002
|
NM_030962.4(SBF2):c.-37G>T
|
rs756232914
|
0.00002
|
NM_030962.4(SBF2):c.1971A>G (p.Val657=)
|
rs368639697
|
0.00002
|
NM_030962.4(SBF2):c.2397A>G (p.Thr799=)
|
rs759550730
|
0.00002
|
NM_030962.4(SBF2):c.3935G>A (p.Arg1312Gln)
|
rs768571931
|
0.00002
|
NM_030962.4(SBF2):c.4932T>C (p.Ser1644=)
|
rs757095964
|
0.00002
|
NM_030962.4(SBF2):c.5231+13A>G
|
rs1242027664
|
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_181882.3(PRX):c.2306C>T (p.Pro769Leu)
|
rs371887816
|
0.00002
|
NM_181882.3(PRX):c.3686G>A (p.Arg1229Gln)
|
rs778017594
|
0.00002
|
NM_181882.3(PRX):c.833C>T (p.Pro278Leu)
|
rs886054440
|
0.00002
|
NM_000166.6(GJB1):c.*443G>A
|
rs533182215
|
0.00001
|
NM_000399.5(EGR2):c.*655G>A
|
rs886047089
|
0.00001
|
NM_000399.5(EGR2):c.*79C>A
|
rs1310299341
|
0.00001
|
NM_000399.5(EGR2):c.541C>T (p.Leu181Phe)
|
rs886047095
|
0.00001
|
NM_000399.5(EGR2):c.924C>T (p.Ala308=)
|
rs886047093
|
0.00001
|
NM_000530.8(MPZ):c.*1074A>C
|
rs886045471
|
0.00001
|
NM_000530.8(MPZ):c.*369C>T
|
rs1359055917
|
0.00001
|
NM_000530.8(MPZ):c.*903G>A
|
rs1489097338
|
0.00001
|
NM_000530.8(MPZ):c.200G>A (p.Arg67His)
|
rs201720099
|
0.00001
|
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_001136472.2(LITAF):c.*1170A>G
|
rs886051648
|
0.00001
|
NM_001136472.2(LITAF):c.*1422A>G
|
rs1005760992
|
0.00001
|
NM_001136472.2(LITAF):c.386C>T (p.Ala129Val)
|
rs201512884
|
0.00001
|
NM_001136472.2(LITAF):c.88A>T (p.Asn30Tyr)
|
rs368574479
|
0.00001
|
NM_001365951.3(KIF1B):c.*1104C>T
|
rs886044995
|
0.00001
|
NM_001365951.3(KIF1B):c.1038-5del
|
rs886044976
|
0.00001
|
NM_001370298.3(FGD4):c.*1006C>T
|
rs886049260
|
0.00001
|
NM_001370298.3(FGD4):c.*1160G>A
|
rs540745195
|
0.00001
|
NM_001370298.3(FGD4):c.*1274G>A
|
rs570269532
|
0.00001
|
NM_001370298.3(FGD4):c.*1530T>C
|
rs1180856784
|
0.00001
|
NM_001370298.3(FGD4):c.*2309G>A
|
rs907361043
|
0.00001
|
NM_001370298.3(FGD4):c.*2859G>A
|
rs772364905
|
0.00001
|
NM_001370298.3(FGD4):c.*3022A>G
|
rs575960786
|
0.00001
|
NM_001370298.3(FGD4):c.*3814A>G
|
rs886049271
|
0.00001
|
NM_001370298.3(FGD4):c.*3905A>G
|
rs886049273
|
0.00001
|
NM_001370298.3(FGD4):c.*4446A>G
|
rs1056318297
|
0.00001
|
NM_001370298.3(FGD4):c.*5153G>A
|
rs1160169859
|
0.00001
|
NM_001370298.3(FGD4):c.*5177G>A
|
rs777896036
|
0.00001
|
NM_001370298.3(FGD4):c.*5243C>T
|
rs1225473163
|
0.00001
|
NM_001370298.3(FGD4):c.*5265A>G
|
rs1357653958
|
0.00001
|
NM_001370298.3(FGD4):c.1609C>G (p.Leu537Val)
|
rs750265200
|
0.00001
|
NM_001370298.3(FGD4):c.167-62001C>G
|
rs765758875
|
0.00001
|
NM_001370298.3(FGD4):c.2172+12T>G
|
rs945554080
|
0.00001
|
NM_001370298.3(FGD4):c.721G>A (p.Glu241Lys)
|
rs752621629
|
0.00001
|
NM_001370298.3(FGD4):c.809A>G (p.Asp270Gly)
|
rs759415605
|
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_003680.3(YARS1):c.-167T>A
|
rs1057515514
|
0.00001
|
NM_003680.3(YARS1):c.-333C>T
|
rs1057515442
|
0.00001
|
NM_003680.4(YARS1):c.*724T>C
|
rs950577466
|
0.00001
|
NM_003680.4(YARS1):c.391C>T (p.Leu131=)
|
rs759430430
|
0.00001
|
NM_004637.6(RAB7A):c.*831A>G
|
rs1432428820
|
0.00001
|
NM_005572.3(LMNA):c.-210T>C
|
rs886045356
|
0.00001
|
NM_006096.4(NDRG1):c.*1621C>T
|
rs1465673240
|
0.00001
|
NM_006096.4(NDRG1):c.*201A>T
|
rs886062715
|
0.00001
|
NM_006096.4(NDRG1):c.*228G>A
|
rs1489186863
|
0.00001
|
NM_006096.4(NDRG1):c.*392G>A
|
rs562723755
|
0.00001
|
NM_006096.4(NDRG1):c.*48C>A
|
rs1390985905
|
0.00001
|
NM_006096.4(NDRG1):c.-99A>G
|
rs935238767
|
0.00001
|
NM_006096.4(NDRG1):c.1028G>A (p.Arg343His)
|
rs144714216
|
0.00001
|
NM_006096.4(NDRG1):c.196G>A (p.Gly66Ser)
|
rs780329667
|
0.00001
|
NM_006096.4(NDRG1):c.322G>A (p.Ala108Thr)
|
rs144310406
|
0.00001
|
NM_006096.4(NDRG1):c.855+14_855+15del
|
rs780070007
|
0.00001
|
NM_006158.5(NEFL):c.*171C>G
|
rs886062834
|
0.00001
|
NM_006158.5(NEFL):c.*856T>C
|
rs886062831
|
0.00001
|
NM_006158.5(NEFL):c.141G>A (p.Val47=)
|
rs886062835
|
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_014845.6(FIG4):c.-124A>G
|
rs544958043
|
0.00001
|
NM_014845.6(FIG4):c.-134C>G
|
rs560811735
|
0.00001
|
NM_014845.6(FIG4):c.1793T>A (p.Phe598Tyr)
|
rs751399063
|
0.00001
|
NM_014845.6(FIG4):c.2222C>T (p.Thr741Met)
|
rs1274229885
|
0.00001
|
NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu)
|
rs201375273
|
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_016156.6(MTMR2):c.*1271A>G
|
rs1863141196
|
0.00001
|
NM_016156.6(MTMR2):c.*679A>C
|
rs776788118
|
0.00001
|
NM_016156.6(MTMR2):c.-82C>T
|
rs886048773
|
0.00001
|
NM_016156.6(MTMR2):c.1339G>A (p.Val447Ile)
|
rs769693714
|
0.00001
|
NM_016156.6(MTMR2):c.162C>T (p.Ala54=)
|
rs547213836
|
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_024577.3(SH3TC2):c.-77C>T
|
rs1017906109
|
0.00001
|
NM_024577.4(SH3TC2):c.*10079A>G
|
rs886060142
|
0.00001
|
NM_024577.4(SH3TC2):c.*10672A>C
|
rs1753463315
|
0.00001
|
NM_024577.4(SH3TC2):c.*1079T>C
|
rs1753632252
|
0.00001
|
NM_024577.4(SH3TC2):c.*11054G>C
|
rs886060134
|
0.00001
|
NM_024577.4(SH3TC2):c.*11055T>C
|
rs886060133
|
0.00001
|
NM_024577.4(SH3TC2):c.*11593G>A
|
rs886060129
|
0.00001
|
NM_024577.4(SH3TC2):c.*12469T>A
|
rs886060122
|
0.00001
|
NM_024577.4(SH3TC2):c.*13292G>T
|
rs1347035516
|
0.00001
|
NM_024577.4(SH3TC2):c.*14628C>T
|
rs886060118
|
0.00001
|
NM_024577.4(SH3TC2):c.*15339G>A
|
rs886060113
|
0.00001
|
NM_024577.4(SH3TC2):c.*15385A>G
|
rs540944260
|
0.00001
|
NM_024577.4(SH3TC2):c.*15680T>C
|
rs886060112
|
0.00001
|
NM_024577.4(SH3TC2):c.*16720T>G
|
rs1753361070
|
0.00001
|
NM_024577.4(SH3TC2):c.*16905T>G
|
rs886060105
|
0.00001
|
NM_024577.4(SH3TC2):c.*1787G>C
|
rs139566698
|
0.00001
|
NM_024577.4(SH3TC2):c.*17934T>C
|
rs1753339081
|
0.00001
|
NM_024577.4(SH3TC2):c.*18471A>G
|
rs1753330424
|
0.00001
|
NM_024577.4(SH3TC2):c.*20230G>T
|
rs761890589
|
0.00001
|
NM_024577.4(SH3TC2):c.*20553A>G
|
rs1419202542
|
0.00001
|
NM_024577.4(SH3TC2):c.*2065C>T
|
rs190638676
|
0.00001
|
NM_024577.4(SH3TC2):c.*20787G>A
|
rs76578570
|
0.00001
|
NM_024577.4(SH3TC2):c.*2624A>G
|
rs762855152
|
0.00001
|
NM_024577.4(SH3TC2):c.*281A>G
|
rs886060191
|
0.00001
|
NM_024577.4(SH3TC2):c.*2921G>A
|
rs1293808777
|
0.00001
|
NM_024577.4(SH3TC2):c.*4920T>G
|
rs550230926
|
0.00001
|
NM_024577.4(SH3TC2):c.*5820A>G
|
rs1309341884
|
0.00001
|
NM_024577.4(SH3TC2):c.*5933G>A
|
rs886060165
|
0.00001
|
NM_024577.4(SH3TC2):c.*651C>A
|
rs1454230507
|
0.00001
|
NM_024577.4(SH3TC2):c.*6836T>C
|
rs757138006
|
0.00001
|
NM_024577.4(SH3TC2):c.*8313G>A
|
rs770951592
|
0.00001
|
NM_024577.4(SH3TC2):c.*9122G>A
|
rs1430233185
|
0.00001
|
NM_024577.4(SH3TC2):c.*9445A>G
|
rs1422098391
|
0.00001
|
NM_024577.4(SH3TC2):c.1245G>A (p.Gly415=)
|
rs748870159
|
0.00001
|
NM_024577.4(SH3TC2):c.1431G>A (p.Glu477=)
|
rs887057321
|
0.00001
|
NM_024577.4(SH3TC2):c.1889C>T (p.Pro630Leu)
|
rs749260578
|
0.00001
|
NM_024577.4(SH3TC2):c.2017G>A (p.Ala673Thr)
|
rs201985394
|
0.00001
|
NM_024577.4(SH3TC2):c.2305G>A (p.Glu769Lys)
|
rs764436192
|
0.00001
|
NM_024577.4(SH3TC2):c.3034C>T (p.Arg1012Trp)
|
rs541197556
|
0.00001
|
NM_024577.4(SH3TC2):c.390C>T (p.Tyr130=)
|
rs776623792
|
0.00001
|
NM_024577.4(SH3TC2):c.830C>T (p.Thr277Met)
|
rs757969875
|
0.00001
|
NM_024577.4(SH3TC2):c.956G>T (p.Gly319Val)
|
rs753423455
|
0.00001
|
NM_030962.4(SBF2):c.*1255G>A
|
rs886048774
|
0.00001
|
NM_030962.4(SBF2):c.*1405T>C
|
rs997066238
|
0.00001
|
NM_030962.4(SBF2):c.*1686G>A
|
rs376521838
|
0.00001
|
NM_030962.4(SBF2):c.*19G>A
|
rs770446132
|
0.00001
|
NM_030962.4(SBF2):c.*418T>C
|
rs985803879
|
0.00001
|
NM_030962.4(SBF2):c.*730G>A
|
rs886048777
|
0.00001
|
NM_030962.4(SBF2):c.*731T>A
|
rs1239478451
|
0.00001
|
NM_030962.4(SBF2):c.-106C>T
|
rs886047578
|
0.00001
|
NM_030962.4(SBF2):c.-27C>T
|
rs1032915786
|
0.00001
|
NM_030962.4(SBF2):c.-49G>A
|
rs1476971148
|
0.00001
|
NM_030962.4(SBF2):c.-64C>T
|
rs1010047569
|
0.00001
|
NM_030962.4(SBF2):c.1024C>T (p.Arg342Ter)
|
rs1565106242
|
0.00001
|
NM_030962.4(SBF2):c.1799G>A (p.Arg600Gln)
|
rs185968327
|
0.00001
|
NM_030962.4(SBF2):c.1897G>A (p.Ala633Thr)
|
rs775198025
|
0.00001
|
NM_030962.4(SBF2):c.2100+7G>A
|
rs370918433
|
0.00001
|
NM_030962.4(SBF2):c.2600C>T (p.Pro867Leu)
|
rs370198639
|
0.00001
|
NM_030962.4(SBF2):c.2610+11A>G
|
rs375912268
|
0.00001
|
NM_030962.4(SBF2):c.2669G>A (p.Arg890Gln)
|
rs755699993
|
0.00001
|
NM_030962.4(SBF2):c.3811C>T (p.Arg1271Cys)
|
rs765001700
|
0.00001
|
NM_030962.4(SBF2):c.4931G>A (p.Ser1644Asn)
|
rs754078134
|
0.00001
|
NM_030962.4(SBF2):c.5035C>T (p.Arg1679Cys)
|
rs79401259
|
0.00001
|
NM_030962.4(SBF2):c.5232-7C>A
|
rs752774091
|
0.00001
|
NM_030962.4(SBF2):c.546G>T (p.Gln182His)
|
rs886047534
|
0.00001
|
NM_030962.4(SBF2):c.942A>G (p.Pro314=)
|
rs753903194
|
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_181882.3(PRX):c.-100+10C>T
|
rs2079541059
|
0.00001
|
NM_181882.3(PRX):c.-198-14C>T
|
rs886054442
|
0.00001
|
NM_181882.3(PRX):c.1215C>T (p.Pro405=)
|
rs377184301
|
0.00001
|
NM_181882.3(PRX):c.1777A>G (p.Met593Val)
|
rs1389523539
|
0.00001
|
NM_181882.3(PRX):c.2283G>A (p.Pro761=)
|
rs1340076007
|
0.00001
|
NM_181882.3(PRX):c.3401T>C (p.Val1134Ala)
|
rs762157790
|
0.00001
|
NM_181882.3(PRX):c.3849A>G (p.Pro1283=)
|
rs757247849
|
0.00001
|
NM_181882.3(PRX):c.3963G>A (p.Glu1321=)
|
rs781159482
|
0.00001
|
NM_181882.3(PRX):c.4109G>A (p.Arg1370His)
|
rs756687548
|
0.00001
|
NM_181882.3(PRX):c.575G>A (p.Arg192Gln)
|
rs944160754
|
0.00001
|
NM_181882.3(PRX):c.732G>A (p.Ala244=)
|
rs769735682
|
0.00001
|
NM_181882.3(PRX):c.825C>T (p.Leu275=)
|
rs753268672
|
0.00001
|
NM_181882.3(PRX):c.944G>A (p.Arg315Gln)
|
rs577197549
|
0.00001
|
NM_000166.6(GJB1):c.*50G>C
|
rs2092547330
|
|
NM_000166.6(GJB1):c.-102G>A
|
rs753207004
|
|
NM_000166.6(GJB1):c.463C>A (p.Leu155Met)
|
rs1057515984
|
|
NM_000399.5(EGR2):c.*145T>A
|
rs886047091
|
|
NM_000399.5(EGR2):c.*150A>G
|
rs1055794746
|
|
NM_000399.5(EGR2):c.*230G>T
|
rs1842147977
|
|
NM_000399.5(EGR2):c.*456G>A
|
rs886047090
|
|
NM_000399.5(EGR2):c.-299G>A
|
rs1842269401
|
|
NM_000399.5(EGR2):c.-64A>C
|
rs1842261380
|
|
NM_000399.5(EGR2):c.1360T>G (p.Cys454Gly)
|
rs886047092
|
|
NM_000530.8(MPZ):c.*251C>G
|
rs772995394
|
|
NM_000530.8(MPZ):c.*858T>C
|
rs886045473
|
|
NM_000530.8(MPZ):c.*954C>A
|
rs372340608
|
|
NM_000530.8(MPZ):c.-49C>A
|
rs750777955
|
|
NM_000530.8(MPZ):c.184A>G (p.Ile62Val)
|
rs121913602
|
|
NM_000530.8(MPZ):c.444A>T (p.Glu148Asp)
|
rs1670257548
|
|
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro)
|
rs886045475
|
|
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_001136472.2(LITAF):c.*1217A>C
|
rs942172049
|
|
NM_001136472.2(LITAF):c.*1386G>A
|
rs184312185
|
|
NM_001136472.2(LITAF):c.*1399C>A
|
rs774513067
|
|
NM_001136472.2(LITAF):c.*1436T>G
|
rs2064132273
|
|
NM_001136472.2(LITAF):c.*1557C>A
|
rs886051647
|
|
NM_001136472.2(LITAF):c.*234C>A
|
rs1370604103
|
|
NM_001136472.2(LITAF):c.*294A>T
|
rs886051651
|
|
NM_001136472.2(LITAF):c.*33G>A
|
rs766852963
|
|
NM_001136472.2(LITAF):c.*563A>C
|
rs2064145331
|
|
NM_001136472.2(LITAF):c.*723A>G
|
rs886051650
|
|
NM_001136472.2(LITAF):c.*949A>G
|
rs886051649
|
|
NM_001136472.2(LITAF):c.-6+513G>C
|
rs2064807880
|
|
NM_001136472.2(LITAF):c.-6+618C>G
|
rs962811879
|
|
NM_001136472.2(LITAF):c.158G>C (p.Gly53Ala)
|
rs886051654
|
|
NM_001136472.2(LITAF):c.159G>A (p.Gly53=)
|
rs886051653
|
|
NM_001136472.2(LITAF):c.368G>A (p.Cys123Tyr)
|
rs2064215812
|
|
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_001370298.3(FGD4):c.*1365T>C
|
rs927175650
|
|
NM_001370298.3(FGD4):c.*1375C>T
|
rs1951171868
|
|
NM_001370298.3(FGD4):c.*1866T>G
|
rs886049265
|
|
NM_001370298.3(FGD4):c.*1908G>C
|
rs886049266
|
|
NM_001370298.3(FGD4):c.*2096T>A
|
rs1951211157
|
|
NM_001370298.3(FGD4):c.*2264G>A
|
rs867102953
|
|
NM_001370298.3(FGD4):c.*3113TA[4]
|
rs57627640
|
|
NM_001370298.3(FGD4):c.*3113TA[6]
|
rs57627640
|
|
NM_001370298.3(FGD4):c.*3150A>G
|
rs542871416
|
|
NM_001370298.3(FGD4):c.*3195T>G
|
rs1951276558
|
|
NM_001370298.3(FGD4):c.*3894_*3895del
|
rs780175220
|
|
NM_001370298.3(FGD4):c.*4118G>A
|
rs895913893
|
|
NM_001370298.3(FGD4):c.*4268A>G
|
rs542163387
|
|
NM_001370298.3(FGD4):c.*4317T>G
|
rs1951329705
|
|
NM_001370298.3(FGD4):c.*4347T>C
|
rs966650800
|
|
NM_001370298.3(FGD4):c.*4772dup
|
rs567814235
|
|
NM_001370298.3(FGD4):c.*5020G>C
|
rs886049277
|
|
NM_001370298.3(FGD4):c.*5152C>T
|
rs886049279
|
|
NM_001370298.3(FGD4):c.*5329G>C
|
rs886049281
|
|
NM_001370298.3(FGD4):c.*712C>T
|
rs1226829212
|
|
NM_001370298.3(FGD4):c.*762G>T
|
rs886049259
|
|
NM_001370298.3(FGD4):c.1305G>T (p.Met435Ile)
|
rs1948472955
|
|
NM_001370298.3(FGD4):c.1404+4A>T
|
rs767855809
|
|
NM_001370298.3(FGD4):c.1405-4A>G
|
rs886049254
|
|
NM_001370298.3(FGD4):c.1602+6T>C
|
rs1344451580
|
|
NM_001370298.3(FGD4):c.167-61986C>G
|
rs11052033
|
|
NM_001370298.3(FGD4):c.1980T>C (p.Phe660=)
|
rs1950062958
|
|
NM_001370298.3(FGD4):c.2122C>G (p.Pro708Ala)
|
rs144693221
|
|
NM_001370298.3(FGD4):c.2225G>A (p.Gly742Asp)
|
rs886049255
|
|
NM_001370298.3(FGD4):c.268A>T (p.Ile90Leu)
|
rs886049253
|
|
NM_001370298.3(FGD4):c.376C>A (p.Pro126Thr)
|
rs199744649
|
|
NM_001370298.3(FGD4):c.980T>C (p.Leu327Pro)
|
rs144980336
|
|
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_003680.3(YARS1):c.-157G>A
|
rs1224825373
|
|
NM_003680.3(YARS1):c.-260G>A
|
rs905903653
|
|
NM_003680.4(YARS1):c.410C>G (p.Ser137Cys)
|
rs770608909
|
|
NM_003680.4(YARS1):c.466G>T (p.Val156Leu)
|
rs781752618
|
|
NM_003680.4(YARS1):c.511-14G>A
|
rs1057515513
|
|
NM_003680.4(YARS1):c.579C>T (p.Thr193=)
|
rs1344194115
|
|
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_006096.3(NDRG1):c.-166A>C
|
rs985517616
|
|
NM_006096.4(NDRG1):c.*1179G>C
|
rs1041250053
|
|
NM_006096.4(NDRG1):c.*1296C>T
|
rs886062711
|
|
NM_006096.4(NDRG1):c.*1361C>A
|
rs887335765
|
|
NM_006096.4(NDRG1):c.*308C>T
|
rs995056665
|
|
NM_006096.4(NDRG1):c.*403G>A
|
rs954177065
|
|
NM_006096.4(NDRG1):c.*618T>G
|
rs886062713
|
|
NM_006096.4(NDRG1):c.*854G>A
|
rs576857084
|
|
NM_006096.4(NDRG1):c.-128C>T
|
rs886062719
|
|
NM_006096.4(NDRG1):c.1000G>A (p.Val334Ile)
|
rs568119325
|
|
NM_006096.4(NDRG1):c.1041C>T (p.Ser347=)
|
rs1467447359
|
|
NM_006096.4(NDRG1):c.307G>C (p.Ala103Pro)
|
rs374160497
|
|
NM_006096.4(NDRG1):c.387T>G (p.Phe129Leu)
|
rs574238421
|
|
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser)
|
rs150796527
|
|
NM_006096.4(NDRG1):c.498C>A (p.Asn166Lys)
|
rs1856400076
|
|
NM_006096.4(NDRG1):c.528C>G (p.Ala176=)
|
rs191237702
|
|
NM_006096.4(NDRG1):c.64-20dup
|
rs756038946
|
|
NM_006096.4(NDRG1):c.951G>A (p.Ser317=)
|
rs1310471207
|
|
NM_006096.4(NDRG1):c.973C>T (p.Arg325Trp)
|
rs141078746
|
|
NM_006158.4(NEFL):c.-248C>G
|
rs927020136
|
|
NM_006158.4(NEFL):c.-258C>G
|
rs769348830
|
|
NM_006158.5(NEFL):c.*1153T>G
|
rs1802971132
|
|
NM_006158.5(NEFL):c.*1342A>G
|
rs886062830
|
|
NM_006158.5(NEFL):c.*1349T>G
|
rs886062828
|
|
NM_006158.5(NEFL):c.*577T>C
|
rs886062832
|
|
NM_006158.5(NEFL):c.-68T>A
|
rs886062836
|
|
NM_006158.5(NEFL):c.516C>T (p.Arg172=)
|
rs1803046250
|
|
NM_006158.5(NEFL):c.540G>C (p.Glu180Asp)
|
rs1797704362
|
|
NM_006158.5(NEFL):c.638T>C (p.Ile213Thr)
|
rs2117254829
|
|
NM_006158.5(NEFL):c.717G>A (p.Gln239=)
|
rs1803041188
|
|
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_014845.6(FIG4):c.*150_*151del
|
rs886060986
|
|
NM_014845.6(FIG4):c.1272-10C>G
|
rs201293291
|
|
NM_014845.6(FIG4):c.1889+9C>T
|
rs1777643262
|
|
NM_014845.6(FIG4):c.2097-10C>G
|
rs142482745
|
|
NM_014845.6(FIG4):c.2223G>T (p.Thr741=)
|
rs181012139
|
|
NM_014845.6(FIG4):c.235G>A (p.Gly79Arg)
|
rs886060982
|
|
NM_014845.6(FIG4):c.2460A>C (p.Arg820Ser)
|
rs886060984
|
|
NM_014845.6(FIG4):c.2546+5G>C
|
rs1060501401
|
|
NM_014845.6(FIG4):c.2547-5T>G
|
rs200267243
|
|
NM_014845.6(FIG4):c.2568G>T (p.Ser856=)
|
rs140055056
|
|
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg)
|
rs529048339
|
|
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_016156.5(MTMR2):c.-222G>C
|
rs746848952
|
|
NM_016156.6(MTMR2):c.*1036C>T
|
rs1863154187
|
|
NM_016156.6(MTMR2):c.*1100_*1103dup
|
rs886048767
|
|
NM_016156.6(MTMR2):c.*1249G>A
|
rs1863142451
|
|
NM_016156.6(MTMR2):c.*1339T>G
|
rs547240331
|
|
NM_016156.6(MTMR2):c.*1343_*1344del
|
rs886048765
|
|
NM_016156.6(MTMR2):c.*1425A>G
|
rs886048764
|
|
NM_016156.6(MTMR2):c.*1656T>G
|
rs1006542556
|
|
NM_016156.6(MTMR2):c.*1822T>G
|
rs562826516
|
|
NM_016156.6(MTMR2):c.*2038C>G
|
rs886048763
|
|
NM_016156.6(MTMR2):c.*239A>T
|
rs574781741
|
|
NM_016156.6(MTMR2):c.*345CT[1]
|
rs762396029
|
|
NM_016156.6(MTMR2):c.*810C>G
|
rs1863164114
|
|
NM_016156.6(MTMR2):c.184_186del (p.Arg62del)
|
rs141498429
|
|
NM_016156.6(MTMR2):c.212C>T (p.Ala71Val)
|
rs886048772
|
|
NM_016156.6(MTMR2):c.289T>A (p.Phe97Ile)
|
rs1864455547
|
|
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.*1639A>G
|
rs145245478
|
|
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_022489.4(INF2):c.2845G>A (p.Ala949Thr)
|
rs2140695225
|
|
NM_022753.4(S100PBP):c.-120+175T>G
|
rs1057515550
|
|
NM_022753.4(S100PBP):c.-120+337C>T
|
rs1638832989
|
|
NM_022753.4(S100PBP):c.-124C>G
|
rs1483819380
|
|
NM_024577.3(SH3TC2):c.-92C>T
|
rs886060200
|
|
NM_024577.4(SH3TC2):c.*10006A>T
|
rs201998002
|
|
NM_024577.4(SH3TC2):c.*10010A>T
|
rs886060145
|
|
NM_024577.4(SH3TC2):c.*10018A>T
|
rs866934630
|
|
NM_024577.4(SH3TC2):c.*10022A>T
|
rs56245745
|
|
NM_024577.4(SH3TC2):c.*10051ACCA[13]
|
rs57301725
|
|
NM_024577.4(SH3TC2):c.*10051ACCA[14]
|
rs57301725
|
|
NM_024577.4(SH3TC2):c.*10051ACCA[16]
|
rs57301725
|
|
NM_024577.4(SH3TC2):c.*10060C>A
|
rs886060143
|
|
NM_024577.4(SH3TC2):c.*10068C>A
|
rs1042787317
|
|
NM_024577.4(SH3TC2):c.*10083A>G
|
rs886060141
|
|
NM_024577.4(SH3TC2):c.*10103A>T
|
rs754724940
|
|
NM_024577.4(SH3TC2):c.*10111_*10114del
|
rs777886659
|
|
NM_024577.4(SH3TC2):c.*10230A>C
|
rs1246060970
|
|
NM_024577.4(SH3TC2):c.*10395A>G
|
rs1753468263
|
|
NM_024577.4(SH3TC2):c.*10560T>C
|
rs1753464929
|
|
NM_024577.4(SH3TC2):c.*10756G>T
|
rs886060135
|
|
NM_024577.4(SH3TC2):c.*10765A>G
|
rs1753461440
|
|
NM_024577.4(SH3TC2):c.*10802A>T
|
rs547788921
|
|
NM_024577.4(SH3TC2):c.*11299C>G
|
rs547464453
|
|
NM_024577.4(SH3TC2):c.*11506C>T
|
rs886060131
|
|
NM_024577.4(SH3TC2):c.*11803A>G
|
rs1051316908
|
|
NM_024577.4(SH3TC2):c.*11934A>G
|
rs1753442184
|
|
NM_024577.4(SH3TC2):c.*12009T>C
|
rs1753441242
|
|
NM_024577.4(SH3TC2):c.*12109_*12110dup
|
rs35182601
|
|
NM_024577.4(SH3TC2):c.*12110dup
|
rs35182601
|
|
NM_024577.4(SH3TC2):c.*12111_*12112insAA
|
rs886060126
|
|
NM_024577.4(SH3TC2):c.*12114dup
|
rs886060125
|
|
NM_024577.4(SH3TC2):c.*12442A>G
|
rs56848629
|
|
NM_024577.4(SH3TC2):c.*12752T>A
|
rs886060120
|
|
NM_024577.4(SH3TC2):c.*13037G>A
|
rs769382913
|
|
NM_024577.4(SH3TC2):c.*13293T>C
|
rs886060119
|
|
NM_024577.4(SH3TC2):c.*14182A>G
|
rs374261707
|
|
NM_024577.4(SH3TC2):c.*1421A>C
|
rs1753627085
|
|
NM_024577.4(SH3TC2):c.*14397A>C
|
rs1753401888
|
|
NM_024577.4(SH3TC2):c.*14450A>C
|
rs758906397
|
|
NM_024577.4(SH3TC2):c.*14781C>A
|
rs886060117
|
|
NM_024577.4(SH3TC2):c.*147A>T
|
rs147796833
|
|
NM_024577.4(SH3TC2):c.*15049A>T
|
rs575869408
|
|
NM_024577.4(SH3TC2):c.*15311del
|
rs886060114
|
|
NM_024577.4(SH3TC2):c.*15483T>C
|
rs971207143
|
|
NM_024577.4(SH3TC2):c.*15823T>A
|
rs4562031
|
|
NM_024577.4(SH3TC2):c.*15877G>T
|
rs868551923
|
|
NM_024577.4(SH3TC2):c.*16015G>T
|
rs994438752
|
|
NM_024577.4(SH3TC2):c.*16174A>G
|
rs1753370916
|
|
NM_024577.4(SH3TC2):c.*16293C>G
|
rs1753368592
|
|
NM_024577.4(SH3TC2):c.*16402G>T
|
rs1753366817
|
|
NM_024577.4(SH3TC2):c.*16507C>T
|
rs886060111
|
|
NM_024577.4(SH3TC2):c.*16509A>G
|
rs886060110
|
|
NM_024577.4(SH3TC2):c.*16557T>A
|
rs1389655483
|
|
NM_024577.4(SH3TC2):c.*16711C>G
|
rs886060109
|
|
NM_024577.4(SH3TC2):c.*16856CA[21]
|
rs71957589
|
|
NM_024577.4(SH3TC2):c.*16856CA[22]
|
rs71957589
|
|
NM_024577.4(SH3TC2):c.*16856CA[24]
|
rs71957589
|
|
NM_024577.4(SH3TC2):c.*16856CA[26]
|
rs71957589
|
|
NM_024577.4(SH3TC2):c.*16902G>A
|
rs886060107
|
|
NM_024577.4(SH3TC2):c.*16953T>C
|
rs948858895
|
|
NM_024577.4(SH3TC2):c.*17036C>T
|
rs75086059
|
|
NM_024577.4(SH3TC2):c.*17301T>A
|
rs1012900530
|
|
NM_024577.4(SH3TC2):c.*17482A>G
|
rs1753346855
|
|
NM_024577.4(SH3TC2):c.*17837T>G
|
rs1753341216
|
|
NM_024577.4(SH3TC2):c.*18234G>A
|
rs886060102
|
|
NM_024577.4(SH3TC2):c.*18483dup
|
rs536826583
|
|
NM_024577.4(SH3TC2):c.*18635C>T
|
rs886060101
|
|
NM_024577.4(SH3TC2):c.*19111G>T
|
rs1753319859
|
|
NM_024577.4(SH3TC2):c.*19137C>G
|
rs773138258
|
|
NM_024577.4(SH3TC2):c.*19182A>C
|
rs886060100
|
|
NM_024577.4(SH3TC2):c.*19406A>G
|
rs72835351
|
|
NM_024577.4(SH3TC2):c.*1946_*1947del
|
rs397883732
|
|
NM_024577.4(SH3TC2):c.*19552G>T
|
rs1410058775
|
|
NM_024577.4(SH3TC2):c.*19563_*19564dup
|
rs5872105
|
|
NM_024577.4(SH3TC2):c.*1979C>T
|
rs886060181
|
|
NM_024577.4(SH3TC2):c.*20086A>G
|
rs1753304105
|
|
NM_024577.4(SH3TC2):c.*20135C>T
|
rs1753303246
|
|
NM_024577.4(SH3TC2):c.*20919_*20920del
|
rs886060096
|
|
NM_024577.4(SH3TC2):c.*21087A>G
|
rs1753287119
|
|
NM_024577.4(SH3TC2):c.*21119G>T
|
rs1326174533
|
|
NM_024577.4(SH3TC2):c.*2141C>T
|
rs535223944
|
|
NM_024577.4(SH3TC2):c.*22291T>C
|
rs886060091
|
|
NM_024577.4(SH3TC2):c.*22552_*22553dup
|
rs55932017
|
|
NM_024577.4(SH3TC2):c.*22553del
|
rs55932017
|
|
NM_024577.4(SH3TC2):c.*2923A>G
|
rs1033163196
|
|
NM_024577.4(SH3TC2):c.*3035C>A
|
rs183531576
|
|
NM_024577.4(SH3TC2):c.*3313G>A
|
rs1753595247
|
|
NM_024577.4(SH3TC2):c.*3438T>C
|
rs367587126
|
|
NM_024577.4(SH3TC2):c.*3464C>T
|
rs753332922
|
|
NM_024577.4(SH3TC2):c.*3497G>A
|
rs1753591981
|
|
NM_024577.4(SH3TC2):c.*3589G>T
|
rs1044470297
|
|
NM_024577.4(SH3TC2):c.*3946C>A
|
rs1753583783
|
|
NM_024577.4(SH3TC2):c.*4183T>C
|
rs886060176
|
|
NM_024577.4(SH3TC2):c.*4209A>G
|
rs886060175
|
|
NM_024577.4(SH3TC2):c.*4240C>A
|
rs765837919
|
|
NM_024577.4(SH3TC2):c.*4975T>C
|
rs1753565926
|
|
NM_024577.4(SH3TC2):c.*5279del
|
rs573168274
|
|
NM_024577.4(SH3TC2):c.*5350G>A
|
rs1753560296
|
|
NM_024577.4(SH3TC2):c.*5419G>A
|
rs886060169
|
|
NM_024577.4(SH3TC2):c.*5634C>A
|
rs565468168
|
|
NM_024577.4(SH3TC2):c.*574A>C
|
rs74964033
|
|
NM_024577.4(SH3TC2):c.*623T>C
|
rs886060190
|
|
NM_024577.4(SH3TC2):c.*6382T>C
|
rs528052888
|
|
NM_024577.4(SH3TC2):c.*6392C>A
|
rs114817736
|
|
NM_024577.4(SH3TC2):c.*6563_*6564del
|
rs368030230
|
|
NM_024577.4(SH3TC2):c.*6627C>T
|
rs536731603
|
|
NM_024577.4(SH3TC2):c.*6870ACA[1]
|
rs567997802
|
|
NM_024577.4(SH3TC2):c.*7016ATATT[1]
|
rs886060164
|
|
NM_024577.4(SH3TC2):c.*7152G>A
|
rs1753532056
|
|
NM_024577.4(SH3TC2):c.*7189C>G
|
rs886060163
|
|
NM_024577.4(SH3TC2):c.*7197G>C
|
rs886060162
|
|
NM_024577.4(SH3TC2):c.*7256A>C
|
rs886060161
|
|
NM_024577.4(SH3TC2):c.*7285G>C
|
rs886060160
|
|
NM_024577.4(SH3TC2):c.*7291G>A
|
rs748202204
|
|
NM_024577.4(SH3TC2):c.*7394A>G
|
rs886060158
|
|
NM_024577.4(SH3TC2):c.*7570G>A
|
rs886060157
|
|
NM_024577.4(SH3TC2):c.*8038A>G
|
rs988158680
|
|
NM_024577.4(SH3TC2):c.*8077A>G
|
rs886060156
|
|
NM_024577.4(SH3TC2):c.*8216T>C
|
rs886060155
|
|
NM_024577.4(SH3TC2):c.*8261G>A
|
rs1753511260
|
|
NM_024577.4(SH3TC2):c.*8349T>C
|
rs565407418
|
|
NM_024577.4(SH3TC2):c.*8364C>T
|
rs886060154
|
|
NM_024577.4(SH3TC2):c.*839del
|
rs886060189
|
|
NM_024577.4(SH3TC2):c.*8423T>C
|
rs10036103
|
|
NM_024577.4(SH3TC2):c.*8424CT[7]
|
rs146811206
|
|
NM_024577.4(SH3TC2):c.*8424CT[9]
|
rs146811206
|
|
NM_024577.4(SH3TC2):c.*862del
|
rs886060188
|
|
NM_024577.4(SH3TC2):c.*862dup
|
rs886060187
|
|
NM_024577.4(SH3TC2):c.*8692T>C
|
rs559844045
|
|
NM_024577.4(SH3TC2):c.*86C>T
|
rs886060194
|
|
NM_024577.4(SH3TC2):c.*9121del
|
rs886060149
|
|
NM_024577.4(SH3TC2):c.*9193A>G
|
rs543374482
|
|
NM_024577.4(SH3TC2):c.*9340G>C
|
rs886060147
|
|
NM_024577.4(SH3TC2):c.*9357T>C
|
rs147996031
|
|
NM_024577.4(SH3TC2):c.*9357T>G
|
rs147996031
|
|
NM_024577.4(SH3TC2):c.*9872T>C
|
rs545698794
|
|
NM_024577.4(SH3TC2):c.*9974ATCC[11]
|
rs201323132
|
|
NM_024577.4(SH3TC2):c.*9974ATCC[14]
|
rs201323132
|
|
NM_024577.4(SH3TC2):c.*99G>A
|
rs886060193
|
|
NM_024577.4(SH3TC2):c.1233_1235dup (p.His411dup)
|
rs886060198
|
|
NM_024577.4(SH3TC2):c.1797G>A (p.Leu599=)
|
rs200332172
|
|
NM_024577.4(SH3TC2):c.1831C>A (p.His611Asn)
|
rs886060197
|
|
NM_024577.4(SH3TC2):c.1922G>T (p.Arg641Leu)
|
rs199991156
|
|
NM_024577.4(SH3TC2):c.2094C>T (p.Ile698=)
|
rs886060196
|
|
NM_024577.4(SH3TC2):c.255C>T (p.Asp85=)
|
rs886060199
|
|
NM_024577.4(SH3TC2):c.2657G>A (p.Ser886Asn)
|
rs780085307
|
|
NM_024577.4(SH3TC2):c.3303G>A (p.Arg1101=)
|
rs755006924
|
|
NM_024577.4(SH3TC2):c.3433G>T (p.Ala1145Ser)
|
rs141715248
|
|
NM_024577.4(SH3TC2):c.3600G>A (p.Leu1200=)
|
rs886060195
|
|
NM_024577.4(SH3TC2):c.3676-13A>G
|
rs1753660598
|
|
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=)
|
rs144873879
|
|
NM_024577.4(SH3TC2):c.529+7G>A
|
rs747615694
|
|
NM_024577.4(SH3TC2):c.971G>A (p.Arg324Lys)
|
rs1754316511
|
|
NM_030962.4(SBF2):c.*154C>T
|
rs1590064987
|
|
NM_030962.4(SBF2):c.*375G>A
|
rs533676532
|
|
NM_030962.4(SBF2):c.*375G>C
|
rs533676532
|
|
NM_030962.4(SBF2):c.*447A>T
|
rs192282549
|
|
NM_030962.4(SBF2):c.*882T>C
|
rs886048775
|
|
NM_030962.4(SBF2):c.1413T>A (p.His471Gln)
|
rs769911496
|
|
NM_030962.4(SBF2):c.1601-4C>G
|
rs886048784
|
|
NM_030962.4(SBF2):c.1861-6T>C
|
rs77334447
|
|
NM_030962.4(SBF2):c.23T>G (p.Phe8Cys)
|
rs886047576
|
|
NM_030962.4(SBF2):c.2537-5C>T
|
rs886048783
|
|
NM_030962.4(SBF2):c.2863A>G (p.Lys955Glu)
|
rs1856598871
|
|
NM_030962.4(SBF2):c.2870C>A (p.Thr957Lys)
|
rs886048782
|
|
NM_030962.4(SBF2):c.3001A>T (p.Met1001Leu)
|
rs781742897
|
|
NM_030962.4(SBF2):c.3003G>A (p.Met1001Ile)
|
rs1856494115
|
|
NM_030962.4(SBF2):c.3016C>T (p.Pro1006Ser)
|
rs886048781
|
|
NM_030962.4(SBF2):c.3257-5C>G
|
rs886048780
|
|
NM_030962.4(SBF2):c.3761T>C (p.Leu1254Pro)
|
rs762211340
|
|
NM_030962.4(SBF2):c.409C>G (p.Leu137Val)
|
rs200954150
|
|
NM_030962.4(SBF2):c.440G>A (p.Ser147Asn)
|
rs1949190497
|
|
NM_030962.4(SBF2):c.479G>T (p.Cys160Phe)
|
rs1214507322
|
|
NM_030962.4(SBF2):c.4825T>G (p.Ser1609Ala)
|
rs1852579303
|
|
NM_030962.4(SBF2):c.5004C>G (p.Thr1668=)
|
rs150598413
|
|
NM_030962.4(SBF2):c.5004C>T (p.Thr1668=)
|
rs150598413
|
|
NM_030962.4(SBF2):c.513+5A>G
|
rs1949186125
|
|
NM_030962.4(SBF2):c.5135G>A (p.Gly1712Glu)
|
rs757214892
|
|
NM_030962.4(SBF2):c.5179C>G (p.Arg1727Gly)
|
rs750756174
|
|
NM_030962.4(SBF2):c.5296G>A (p.Val1766Ile)
|
rs886048779
|
|
NM_030962.4(SBF2):c.5503G>A (p.Ala1835Thr)
|
rs886048778
|
|
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
|
|
NM_181882.3(PRX):c.-199+7G>C
|
rs541213273
|
|
NM_181882.3(PRX):c.1087C>G (p.Pro363Ala)
|
rs886054439
|
|
NM_181882.3(PRX):c.1547G>A (p.Arg516Gln)
|
rs1035002145
|
|
NM_181882.3(PRX):c.1818G>A (p.Pro606=)
|
rs768022787
|
|
NM_181882.3(PRX):c.184+3G>T
|
rs944519032
|
|
NM_181882.3(PRX):c.1868T>G (p.Leu623Arg)
|
rs2079438528
|
|
NM_181882.3(PRX):c.1869T>G (p.Leu623=)
|
rs1241434904
|
|
NM_181882.3(PRX):c.1891C>G (p.Leu631Val)
|
rs886054438
|
|
NM_181882.3(PRX):c.2071A>C (p.Met691Leu)
|
rs886054437
|
|
NM_181882.3(PRX):c.2215G>A (p.Asp739Asn)
|
rs779294844
|
|
NM_181882.3(PRX):c.2261G>A (p.Arg754Gln)
|
rs760071236
|
|
NM_181882.3(PRX):c.2292C>G (p.Pro764=)
|
rs142637195
|
|
NM_181882.3(PRX):c.2509C>T (p.Leu837=)
|
rs1177784082
|
|
NM_181882.3(PRX):c.2697C>T (p.Pro899=)
|
rs778762350
|
|
NM_181882.3(PRX):c.2746G>C (p.Gly916Arg)
|
rs775152960
|
|
NM_181882.3(PRX):c.3220G>A (p.Ala1074Thr)
|
rs886054436
|
|
NM_181882.3(PRX):c.379C>T (p.Leu127=)
|
rs886054441
|
|
NM_181882.3(PRX):c.3868G>A (p.Glu1290Lys)
|
rs773955274
|
|
NM_181882.3(PRX):c.3926C>T (p.Pro1309Leu)
|
rs2079409567
|
|
NM_181882.3(PRX):c.4171C>G (p.Arg1391Gly)
|
rs369072136
|
|
NM_181882.3(PRX):c.4279G>T (p.Asp1427Tyr)
|
rs2079404139
|
|
NM_181882.3(PRX):c.445G>T (p.Ala149Ser)
|
rs142436391
|
|
NM_181882.3(PRX):c.844G>C (p.Ala282Pro)
|
rs769945580
|
|