ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1530
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HGVS dbSNP gnomAD frequency
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

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