ClinVar Miner

List of variants reported for Charcot-Marie-Tooth disease by Molecular Genetics Laboratory, London Health Sciences Centre

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ClinVar version:
Total variants: 1914
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.117+28G>A rs4321999 0.99293
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.97933
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg) rs268674 0.95976
NM_030962.4(SBF2):c.4571-6C>T rs2645029 0.88084
NM_001005373.4(LRSAM1):c.903+38T>C rs1539569 0.77244
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser) rs560096 0.76511
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=) rs1249463 0.76080
NM_001005373.4(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567 0.75123
NM_001005373.4(LRSAM1):c.1912+5A>C rs2248822 0.74956
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402 0.70073
NM_006096.4(NDRG1):c.64-6T>C rs2272653 0.65276
NM_001005373.4(LRSAM1):c.249C>T (p.Ile83=) rs2243906 0.61095
NM_021625.5(TRPV4):c.670A>C (p.Arg224=) rs3825394 0.60669
NM_181882.3(PRX):c.2645T>C (p.Val882Ala) rs268671 0.59048
NM_181882.3(PRX):c.2655T>C (p.Pro885=) rs268672 0.56968
NM_000304.4(PMP22):c.*59A>C rs13422 0.56905
NM_001365951.3(KIF1B):c.1223-28C>T rs3748575 0.55154
NM_004208.4(AIFM1):c.273T>C (p.Asp91=) rs1139851 0.50355
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=) rs1432793 0.48793
NM_002047.4(GARS1):c.2095-6C>T rs2240401 0.48477
NM_001005373.4(LRSAM1):c.904-9C>T rs1539568 0.43695
NM_001005373.4(LRSAM1):c.750+33G>A rs2250267 0.43666
NM_181882.3(PRX):c.2763A>G (p.Ile921Met) rs268673 0.36279
NM_001376.5(DYNC1H1):c.12902+46G>A rs2273440 0.35190
NM_014845.6(FIG4):c.2559G>A (p.Ser853=) rs1127771 0.34581
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) rs9885672 0.33924
NM_014845.6(FIG4):c.647-18C>A rs2273752 0.33064
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749 0.29982
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903 0.29622
NM_016156.6(MTMR2):c.1131C>T (p.Thr377=) rs566204 0.28363
NM_016156.6(MTMR2):c.8A>C (p.Lys3Thr) rs3824874 0.27654
NM_001370298.3(FGD4):c.1716G>A (p.Arg572=) rs10844253 0.27488
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_001365951.3(KIF1B):c.1777+10C>T rs3753037 0.26503
NM_006736.6(DNAJB2):c.66-14C>T rs2276638 0.26148
NM_001365951.3(KIF1B):c.720+17C>T rs1339458 0.25792
NM_002180.3(IGHMBP2):c.1235+511T>C rs3794027 0.25405
NM_001370298.3(FGD4):c.1929G>A (p.Ala643=) rs11052110 0.25239
NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala) rs622082 0.24183
NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=) rs546382 0.24174
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052 0.24010
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552 0.23676
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) rs17612126 0.22387
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902 0.22262
NM_001376.5(DYNC1H1):c.4396-25A>G rs2251644 0.20803
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp) rs2236654 0.20662
NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=) rs11228413 0.20651
NM_001376.5(DYNC1H1):c.8344-30G>A rs2180510 0.20452
NM_002180.3(IGHMBP2):c.1235+519C>T rs17533324 0.19249
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val) rs10896380 0.19067
NM_002180.3(IGHMBP2):c.-2C>T rs4930624 0.18778
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.18318
NM_018972.4(GDAP1):c.579+417A>G rs16938894 0.18236
NM_030962.4(SBF2):c.753-16T>A rs7128234 0.18140
NM_006415.4(SPTLC1):c.560+16G>C rs73512337 0.16685
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188 0.16558
NM_006736.6(DNAJB2):c.230-10G>A rs3731897 0.16060
NM_001136472.2(LITAF):c.274A>G (p.Ile92Val) rs4280262 0.15945
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_001376.5(DYNC1H1):c.3333+23A>G rs4900529 0.15530
NM_001370298.3(FGD4):c.2047-7T>C rs11052113 0.15340
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_021625.5(TRPV4):c.2034C>T (p.Ile678=) rs3742037 0.14446
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889 0.12866
NM_021625.5(TRPV4):c.789T>C (p.Asp263=) rs3742034 0.12664
NM_181882.3(PRX):c.3248C>G (p.Pro1083Arg) rs3745202 0.12427
NM_181882.3(PRX):c.306C>T (p.Thr102=) rs744389 0.12409
NM_006096.4(NDRG1):c.756-5C>T rs2227262 0.11176
NM_006736.6(DNAJB2):c.446-8G>A rs3821039 0.10187
NM_002047.4(GARS1):c.222+5C>T rs2072236 0.09556
NM_002047.4(GARS1):c.93G>C (p.Leu31=) rs2529438 0.09548
NM_001370298.3(FGD4):c.1750-12C>T rs73083501 0.08885
NM_001365951.3(KIF1B):c.4299A>G (p.Pro1433=) rs12125492 0.08850
NM_021625.5(TRPV4):c.795C>T (p.His265=) rs1344554 0.08478
NM_006158.5(NEFL):c.1170-13T>C rs76347846 0.08329
NM_030962.4(SBF2):c.2035G>A (p.Glu679Lys) rs7102464 0.08286
NM_002047.4(GARS1):c.2145A>G (p.Thr715=) rs4593 0.08113
NM_030962.4(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508 0.07978
NM_001370298.3(FGD4):c.1404+8G>A rs12823621 0.07737
NM_014874.4(MFN2):c.2204+15T>C rs77262016 0.07571
NM_002180.3(IGHMBP2):c.1418+18A>G rs112575423 0.06280
NM_000371.4(TTR):c.337-18G>C rs36204272 0.06198
NM_006096.4(NDRG1):c.755+10T>C rs2233336 0.06123
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505 0.05906
NM_030962.4(SBF2):c.909C>T (p.Pro303=) rs16907355 0.05858
NM_014845.6(FIG4):c.2377-19T>C rs72944974 0.05800
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) rs1800458 0.05309
NM_002047.4(GARS1):c.1613+9T>C rs75855065 0.04917
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) rs2295837 0.04647
NM_018972.4(GDAP1):c.485-20C>G rs73345392 0.04498
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133 0.04462
NM_014874.4(MFN2):c.1569C>T (p.Ser523=) rs1042837 0.04459
NM_006415.4(SPTLC1):c.1136+12A>G rs76562923 0.04351
NM_004637.6(RAB7A):c.219C>T (p.Leu73=) rs4548 0.04279
NM_002047.4(GARS1):c.1833T>C (p.Val611=) rs14270 0.04182
NM_002047.4(GARS1):c.1062T>C (p.Phe354=) rs11553502 0.04180
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657 0.04171
NM_014845.6(FIG4):c.67-7T>C rs56378532 0.04073
NM_016156.6(MTMR2):c.1756C>A (p.Arg586=) rs61735577 0.04066
NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln) rs61735578 0.03636
NM_001365951.3(KIF1B):c.4946+9C>T rs72867431 0.03521
NM_014845.6(FIG4):c.2377-20_2377-19insC rs201752617 0.03507
NM_001365951.3(KIF1B):c.1365G>A (p.Thr455=) rs17034660 0.03490
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_001365951.3(KIF1B):c.3423-15del rs3215996 0.03458
NM_001005373.4(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855 0.03450
NM_001365951.3(KIF1B):c.3398A>G (p.Tyr1133Cys) rs2297881 0.03425
NM_181882.3(PRX):c.2017A>G (p.Met673Val) rs61735531 0.03414
NM_024577.4(SH3TC2):c.2235T>G (p.Ala745=) rs78120278 0.03339
NM_181882.3(PRX):c.2727C>T (p.Pro909=) rs61735546 0.03308
NM_004208.4(AIFM1):c.918C>T (p.Ile306=) rs12014115 0.03205
NM_001365951.3(KIF1B):c.1180+18C>T rs41274456 0.03074
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158 0.03068
NM_004208.4(AIFM1):c.996A>G (p.Gln332=) rs12007545 0.03061
NM_030962.4(SBF2):c.4933-15T>C rs75447733 0.03044
NM_001376.5(DYNC1H1):c.9469-20A>T rs2720210 0.03010
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179 0.03009
NM_024577.4(SH3TC2):c.512G>A (p.Gly171Glu) rs17722293 0.02854
NM_021625.5(TRPV4):c.2459-9T>G rs115373018 0.02700
NM_001540.5(HSPB1):c.*11C>T rs1058872 0.02598
NM_021625.5(TRPV4):c.81T>C (p.Gly27=) rs34599967 0.02557
NM_021625.5(TRPV4):c.854-5C>T rs116401333 0.02337
NM_024577.4(SH3TC2):c.1350G>A (p.Pro450=) rs17722227 0.02289
NM_014874.4(MFN2):c.159C>T (p.Ser53=) rs61733200 0.02240
NM_024577.4(SH3TC2):c.3472G>A (p.Val1158Ile) rs55853803 0.02130
NM_181882.3(PRX):c.1051C>T (p.Pro351Ser) rs73933276 0.02067
NM_030962.4(SBF2):c.3794-20C>T rs116966215 0.02037
NM_001365951.3(KIF1B):c.608+8dup rs139613776 0.01962
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129 0.01960
NM_016156.6(MTMR2):c.80+13C>T rs139510268 0.01848
NM_001005373.4(LRSAM1):c.1830+6C>T rs75171318 0.01846
NM_030973.4(MED25):c.165G>A (p.Thr55=) rs77400039 0.01828
NM_001365951.3(KIF1B):c.363+6A>C rs114084418 0.01751
NM_030962.4(SBF2):c.3111-6T>C rs16907139 0.01676
NM_001376.5(DYNC1H1):c.3960+16G>A rs11850726 0.01643
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957 0.01643
NM_001370298.3(FGD4):c.1926T>C (p.Ser642=) rs60803891 0.01632
NM_021625.5(TRPV4):c.387-4C>T rs12305439 0.01630
NM_030962.4(SBF2):c.2850C>T (p.Ile950=) rs74642088 0.01620
NM_016156.6(MTMR2):c.1233G>A (p.Thr411=) rs113897932 0.01619
NM_030973.4(MED25):c.1483-7C>T rs2017698 0.01612
NM_002047.4(GARS1):c.747T>C (p.Tyr249=) rs7808770 0.01578
NM_030962.4(SBF2):c.513+17G>C rs73410819 0.01551
NM_030973.4(MED25):c.-12A>G rs114843375 0.01532
NM_002047.4(GARS1):c.1761G>A (p.Thr587=) rs3886641 0.01523
NM_030973.4(MED25):c.2031G>A (p.Ala677=) rs57854058 0.01517
NM_181882.3(PRX):c.471G>A (p.Glu157=) rs4803335 0.01488
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489 0.01481
NM_001370298.3(FGD4):c.1954-8T>C rs115061722 0.01466
NM_006415.4(SPTLC1):c.1255-7C>T rs7863487 0.01454
NM_001376.5(DYNC1H1):c.6221+13G>T rs17541088 0.01447
NM_181882.3(PRX):c.731C>T (p.Ala244Val) rs118071705 0.01410
NM_014874.4(MFN2):c.2205-13C>A rs76020240 0.01362
NM_001365951.3(KIF1B):c.5432C>T (p.Pro1811Leu) rs61999305 0.01293
NM_006096.4(NDRG1):c.892-5C>T rs2233346 0.01290
NM_006415.4(SPTLC1):c.781-6A>G rs138268337 0.01288
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_006096.4(NDRG1):c.306C>T (p.Gly102=) rs2233322 0.01251
NM_014845.6(FIG4):c.*7C>T rs113946190 0.01145
NM_024577.4(SH3TC2):c.477T>A (p.Ser159=) rs77574155 0.01137
NM_004990.4(MARS1):c.2532G>A (p.Ala844=) rs73344102 0.01123
NM_014874.4(MFN2):c.1039-19G>A rs74052923 0.01120
NM_001365951.3(KIF1B):c.4798G>A (p.Val1600Met) rs77172218 0.01096
NM_002180.3(IGHMBP2):c.2439G>A (p.Ala813=) rs624147 0.01079
NM_181882.3(PRX):c.3218A>G (p.Glu1073Gly) rs61733451 0.01078
NM_001365951.3(KIF1B):c.4086T>C (p.Asp1362=) rs116089798 0.01068
NM_181882.3(PRX):c.1483G>C (p.Glu495Gln) rs146789340 0.01068
NM_030962.4(SBF2):c.4533A>G (p.Thr1511=) rs79251068 0.01066
NM_001136472.2(LITAF):c.234G>A (p.Thr78=) rs9282774 0.00987
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196 0.00962
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762 0.00959
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_002180.3(IGHMBP2):c.223G>A (p.Ala75Thr) rs2228206 0.00946
NM_021625.5(TRPV4):c.33G>T (p.Gly11=) rs56092423 0.00939
NM_014845.6(FIG4):c.1242T>C (p.Ile414=) rs61729087 0.00891
NM_030973.4(MED25):c.1727C>G (p.Ala576Gly) rs193291405 0.00836
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287 0.00833
NM_006096.4(NDRG1):c.199A>G (p.Met67Val) rs2233319 0.00829
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_001005373.4(LRSAM1):c.2157C>T (p.Ile719=) rs34768188 0.00793
NM_001370298.3(FGD4):c.1247+10G>T rs41276676 0.00792
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297 0.00777
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054 0.00771
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
NM_001365951.3(KIF1B):c.3864+6A>C rs114266141 0.00716
NM_001365951.3(KIF1B):c.4055+6A>G rs76519832 0.00707
NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys) rs2275996 0.00707
NM_014874.4(MFN2):c.970+19G>A rs75865135 0.00707
NM_030973.4(MED25):c.1482+19G>A rs4802632 0.00704
NM_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
NM_030962.4(SBF2):c.1173A>G (p.Ala391=) rs79470805 0.00687
NM_001376.5(DYNC1H1):c.5433+17dup rs140185574 0.00680
NM_021625.5(TRPV4):c.2433G>C (p.Ser811=) rs34071623 0.00673
NM_181882.3(PRX):c.2469G>A (p.Ala823=) rs61733450 0.00644
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_000304.4(PMP22):c.179-17G>A rs77406217 0.00621
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
NM_181882.3(PRX):c.4044G>C (p.Gly1348=) rs76088917 0.00620
NM_014845.6(FIG4):c.447-16G>T rs200890189 0.00618
NM_002180.3(IGHMBP2):c.256+9G>A rs118015540 0.00600
NM_030973.4(MED25):c.2056C>T (p.Leu686=) rs201969940 0.00598
NM_014874.4(MFN2):c.744C>T (p.Leu248=) rs61733205 0.00591
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=) rs80227512 0.00587
NM_021625.5(TRPV4):c.810G>A (p.Gly270=) rs147558344 0.00582
NM_002180.3(IGHMBP2):c.2025C>T (p.Thr675=) rs138396245 0.00580
NM_001005373.4(LRSAM1):c.1368G>A (p.Ala456=) rs34426300 0.00573
NM_001370298.3(FGD4):c.1143G>A (p.Ser381=) rs34555341 0.00555
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209 0.00551
NM_181882.3(PRX):c.1281C>T (p.Ile427=) rs76960467 0.00551
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090 0.00548
NM_030962.4(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577 0.00548
NM_021625.5(TRPV4):c.1153-10C>T rs149541389 0.00547
NM_021625.5(TRPV4):c.1744C>T (p.Leu582=) rs35078611 0.00542
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln) rs113808165 0.00541
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=) rs61748364 0.00526
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) rs17109261 0.00521
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=) rs76707931 0.00520
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556 0.00517
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430 0.00506
NM_001376.5(DYNC1H1):c.12684+14A>G rs200392758 0.00502
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238 0.00495
NM_002180.3(IGHMBP2):c.1939G>A (p.Val647Ile) rs77822399 0.00494
NM_006158.5(NEFL):c.667C>T (p.Leu223=) rs60156239 0.00494
NM_024577.4(SH3TC2):c.2691C>G (p.Asn897Lys) rs73795753 0.00494
NM_006096.4(NDRG1):c.-18-2_-18-1del rs371927413 0.00490
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=) rs116302604 0.00481
NM_014845.6(FIG4):c.66+10C>T rs200063827 0.00462
NM_024577.4(SH3TC2):c.2913C>T (p.Ser971=) rs13436308 0.00462
NM_006096.4(NDRG1):c.879G>A (p.Pro293=) rs2233340 0.00458
NM_030973.4(MED25):c.1794C>T (p.Ala598=) rs185100172 0.00456
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr) rs117336941 0.00456
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) rs17541519 0.00451
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437 0.00449
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082 0.00448
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460 0.00447
NM_001376.5(DYNC1H1):c.-5A>G rs17511858 0.00446
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_001365951.3(KIF1B):c.4753-20C>A rs192598799 0.00436
NM_004990.4(MARS1):c.1753+7A>G rs117914586 0.00435
NM_002180.3(IGHMBP2):c.1821C>T (p.His607=) rs34658653 0.00420
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=) rs75413741 0.00415
NM_014845.6(FIG4):c.808A>G (p.Thr270Ala) rs61729092 0.00411
NM_014845.6(FIG4):c.*14C>T rs114136062 0.00408
NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val) rs6874630 0.00407
NM_002180.3(IGHMBP2):c.1770T>C (p.Phe590=) rs138997061 0.00398
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_030973.4(MED25):c.93C>T (p.Tyr31=) rs61742955 0.00394
NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr) rs116012780 0.00392
NM_016156.6(MTMR2):c.570+11T>C rs182582445 0.00390
NM_024577.4(SH3TC2):c.3362C>T (p.Ala1121Val) rs115577291 0.00390
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_006736.6(DNAJB2):c.*17G>T rs190436506 0.00346
NM_024577.4(SH3TC2):c.3294C>T (p.Thr1098=) rs193067884 0.00337
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767 0.00336
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=) rs75075497 0.00332
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650 0.00332
NM_181882.3(PRX):c.3802G>C (p.Ala1268Pro) rs146061247 0.00332
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_001365951.3(KIF1B):c.5020G>A (p.Glu1674Lys) rs143669846 0.00317
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00309
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906 0.00302
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765 0.00297
NM_014874.4(MFN2):c.*15G>A rs141339523 0.00292
NM_181882.3(PRX):c.554G>A (p.Arg185His) rs76756143 0.00292
NM_181882.3(PRX):c.3702C>T (p.Gly1234=) rs139950446 0.00291
NM_024577.4(SH3TC2):c.558C>T (p.Ser186=) rs141289653 0.00290
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_181882.3(PRX):c.3846G>A (p.Ser1282=) rs143289108 0.00288
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439 0.00286
NM_018972.4(GDAP1):c.117+12C>G rs202059380 0.00284
NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile) rs141292904 0.00272
NM_004208.4(AIFM1):c.1416T>C (p.Ala472=) rs141324245 0.00268
NM_024577.4(SH3TC2):c.1842C>T (p.Asp614=) rs138411915 0.00267
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
NM_181882.3(PRX):c.892C>T (p.Pro298Ser) rs185112635 0.00262
NM_021625.5(TRPV4):c.712+10C>T rs115657305 0.00260
NM_181882.3(PRX):c.2043C>T (p.Pro681=) rs56743160 0.00259
NM_001136472.2(LITAF):c.333C>T (p.Ala111=) rs34448402 0.00256
NM_001365951.3(KIF1B):c.3635C>T (p.Pro1212Leu) rs141224290 0.00255
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_030973.4(MED25):c.2088G>A (p.Leu696=) rs371157406 0.00252
NM_004990.4(MARS1):c.2204+11G>A rs202080192 0.00239
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146 0.00231
NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser) rs117525287 0.00228
NM_024577.4(SH3TC2):c.3479-8A>G rs147800229 0.00227
NM_021625.5(TRPV4):c.1824+4C>T rs147259744 0.00225
NM_004990.4(MARS1):c.280-14C>T rs183195960 0.00223
NM_006158.5(NEFL):c.855C>T (p.Thr285=) rs1065083 0.00221
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00221
NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile) rs145115430 0.00213
NM_002047.4(GARS1):c.1031+14T>G rs189589556 0.00213
NM_002047.4(GARS1):c.1420C>A (p.Arg474=) rs113958280 0.00210
NM_004637.6(RAB7A):c.423C>G (p.Ala141=) rs61758751 0.00210
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813 0.00210
NM_004990.4(MARS1):c.1500A>G (p.Lys500=) rs2290297 0.00206
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_006096.4(NDRG1):c.331A>C (p.Met111Leu) rs2233328 0.00201
NM_001365951.3(KIF1B):c.2970C>A (p.Ile990=) rs78611156 0.00200
NM_181882.3(PRX):c.445G>A (p.Ala149Thr) rs142436391 0.00193
NM_021625.5(TRPV4):c.1713C>G (p.Ile571Met) rs185933892 0.00191
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser) rs148939995 0.00191
NM_001376.5(DYNC1H1):c.10414-13G>A rs17541421 0.00190
NM_030973.4(MED25):c.688+17G>A rs373952366 0.00188
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202 0.00187
NM_001365951.3(KIF1B):c.*2T>C rs148690591 0.00185
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys) rs147587689 0.00185
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946 0.00184
NM_001376.5(DYNC1H1):c.12513+10T>G rs17512839 0.00183
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720 0.00175
NM_006736.6(DNAJB2):c.298G>A (p.Glu100Lys) rs139406455 0.00175
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His) rs143032801 0.00173
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_001540.5(HSPB1):c.573T>C (p.Leu191=) rs34771861 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.3813C>T (p.Ser1271=) rs140985600 0.00166
NM_030973.4(MED25):c.819+14C>T rs188257265 0.00166
NM_001370298.3(FGD4):c.666A>T (p.Ala222=) rs139357821 0.00161
NM_021625.5(TRPV4):c.57C>T (p.Pro19=) rs112408790 0.00161
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394 0.00158
NM_002180.3(IGHMBP2):c.2545G>A (p.Ala849Thr) rs2228208 0.00157
NM_024577.4(SH3TC2):c.2873-18T>C rs113514936 0.00154
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217 0.00153
NM_014874.4(MFN2):c.1179G>A (p.Met393Ile) rs12069578 0.00153
NM_024577.4(SH3TC2):c.1177+10G>A rs139257109 0.00153
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=) rs147066476 0.00150
NM_001540.5(HSPB1):c.-19C>T rs199602956 0.00149
NM_021625.5(TRPV4):c.1585-18C>T rs201974634 0.00148
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_030962.4(SBF2):c.2337C>T (p.Ser779=) rs140730386 0.00144
NM_021625.5(TRPV4):c.28G>C (p.Ala10Pro) rs376436045 0.00141
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr) rs145871479 0.00140
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val) rs142762689 0.00138
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211 0.00137
NM_002180.3(IGHMBP2):c.1603A>G (p.Ile535Val) rs140221316 0.00136
NM_181882.3(PRX):c.1574T>C (p.Val525Ala) rs149715830 0.00136
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127 0.00133
NM_024577.4(SH3TC2):c.3834G>A (p.Ala1278=) rs117804174 0.00133
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676 0.00133
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510 0.00132
NM_002180.3(IGHMBP2):c.132C>T (p.Gly44=) rs78807992 0.00130
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220 0.00128
NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=) rs139416105 0.00128
NM_014845.6(FIG4):c.446+9G>A rs190287033 0.00128
NM_024577.4(SH3TC2):c.73G>T (p.Asp25Tyr) rs10066882 0.00128
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657 0.00125
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165 0.00125
NM_024577.4(SH3TC2):c.2322C>T (p.Asp774=) rs17795193 0.00125
NM_030973.4(MED25):c.396C>T (p.Arg132=) rs142353864 0.00125
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_002180.3(IGHMBP2):c.*3G>A rs372949830 0.00121
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) rs143792929 0.00121
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile) rs148171058 0.00121
NM_002047.4(GARS1):c.1962C>T (p.Ile654=) rs201927627 0.00120
NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=) rs116719245 0.00120
NM_001365951.3(KIF1B):c.3259+9A>G rs149566646 0.00118
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_005391.5(PDK3):c.376A>G (p.Met126Val) rs138321172 0.00115
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276 0.00114
NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile) rs143421325 0.00112
NM_000304.4(PMP22):c.178+7C>A rs147885521 0.00111
NM_001376.5(DYNC1H1):c.4185+20C>T rs74948967 0.00110
NM_030973.4(MED25):c.354C>T (p.Leu118=) rs145574885 0.00110
NM_004208.4(AIFM1):c.606-15C>T rs191297808 0.00109
NM_018972.4(GDAP1):c.310+6del rs780828430 0.00109
NM_001365951.3(KIF1B):c.5097-9C>T rs376873833 0.00108
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485 0.00108
NM_021625.5(TRPV4):c.1308C>T (p.Ile436=) rs141244183 0.00108
NM_024577.4(SH3TC2):c.1299G>A (p.Ser433=) rs140904010 0.00108
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_001370298.3(FGD4):c.2070C>G (p.Ala690=) rs188104446 0.00106
NM_014874.4(MFN2):c.165C>T (p.Thr55=) rs77458527 0.00106
NM_014874.4(MFN2):c.408A>T (p.Val136=) rs78814413 0.00106
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn) rs139188673 0.00105
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382 0.00104
NM_030973.4(MED25):c.151C>T (p.Pro51Ser) rs147869920 0.00104
NM_001376.5(DYNC1H1):c.11400G>A (p.Gln3800=) rs182767009 0.00103
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673 0.00103
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_021625.5(TRPV4):c.854-4G>A rs371733585 0.00098
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955 0.00096
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138 0.00096
NM_021625.5(TRPV4):c.1913C>T (p.Pro638Leu) rs35058636 0.00096
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser) rs147826200 0.00093
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) rs147318592 0.00092
NM_002180.3(IGHMBP2):c.2355G>A (p.Arg785=) rs147954772 0.00091
NM_030973.4(MED25):c.1374+9C>T rs574703435 0.00090
NM_014874.4(MFN2):c.150C>A (p.Ile50=) rs78841746 0.00089
NM_014874.4(MFN2):c.1641C>T (p.Leu547=) rs140924661 0.00089
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638 0.00088
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041 0.00088
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622 0.00087
NM_014874.4(MFN2):c.891C>T (p.Ala297=) rs11554508 0.00087
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_002180.3(IGHMBP2):c.2322A>G (p.Glu774=) rs11228414 0.00085
NM_004990.4(MARS1):c.1812G>A (p.Gly604=) rs117633211 0.00083
NM_004990.4(MARS1):c.477C>T (p.Pro159=) rs117101415 0.00083
NM_014874.4(MFN2):c.1452G>A (p.Thr484=) rs150043585 0.00083
NM_024577.4(SH3TC2):c.3315G>A (p.Val1105=) rs375970910 0.00083
NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn) rs57153321 0.00081
NM_000399.5(EGR2):c.246C>G (p.Val82=) rs144217451 0.00078
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298 0.00078
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala) rs141686828 0.00078
NM_001365951.3(KIF1B):c.186C>T (p.Pro62=) rs141998703 0.00077
NM_000371.4(TTR):c.*3_*11del rs143948820 0.00076
NM_002180.3(IGHMBP2):c.1060+8G>T rs201147313 0.00076
NM_170707.4(LMNA):c.1489-16C>G rs201379016 0.00076
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910 0.00074
NM_030962.4(SBF2):c.4111G>C (p.Val1371Leu) rs149501654 0.00074
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_002180.3(IGHMBP2):c.1418+11C>T rs201279838 0.00071
NM_021625.5(TRPV4):c.2472G>A (p.Ser824=) rs149988106 0.00071
NM_000304.4(PMP22):c.79-6C>T rs201682989 0.00069
NM_004990.4(MARS1):c.2391A>C (p.Thr797=) rs140573721 0.00068
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_030962.4(SBF2):c.3969G>A (p.Ser1323=) rs77833016 0.00067
NM_001005373.4(LRSAM1):c.1974T>C (p.Ser658=) rs140336379 0.00065
NM_001605.3(AARS1):c.2580G>A (p.Leu860=) rs145581652 0.00065
NM_002180.3(IGHMBP2):c.548-10T>G rs139207271 0.00065
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly) rs148095551 0.00065
NM_006158.5(NEFL):c.639C>G (p.Ile213Met) rs62636522 0.00065
NM_001005373.4(LRSAM1):c.406+15G>T rs201808404 0.00064
NM_001005373.4(LRSAM1):c.814C>T (p.Arg272Trp) rs149456922 0.00063
NM_002047.4(GARS1):c.699C>T (p.Val233=) rs187937286 0.00063
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu) rs138776588 0.00063
NM_024577.4(SH3TC2):c.1483A>G (p.Thr495Ala) rs10077543 0.00063
NM_001136472.2(LITAF):c.330C>T (p.Asn110=) rs139116481 0.00062
NM_002180.3(IGHMBP2):c.1551C>T (p.Leu517=) rs150549628 0.00062
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955 0.00061
NM_004990.4(MARS1):c.663+11G>A rs76150936 0.00061
NM_014874.4(MFN2):c.-4-13G>T rs373679523 0.00060
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480 0.00059
NM_014874.4(MFN2):c.1495+9C>T rs375494746 0.00059
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_181882.3(PRX):c.1964C>T (p.Pro655Leu) rs118003416 0.00059
NM_006736.6(DNAJB2):c.787C>T (p.Leu263=) rs140805390 0.00058
NM_021625.5(TRPV4):c.549G>A (p.Glu183=) rs141908793 0.00058
NM_181882.3(PRX):c.1625G>A (p.Arg542Gln) rs139586219 0.00058
NM_018972.4(GDAP1):c.459G>A (p.Pro153=) rs149804782 0.00057
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029 0.00056
NM_014845.6(FIG4):c.2377-18T>C rs560214203 0.00056
NM_024577.4(SH3TC2):c.1482C>T (p.Leu494=) rs200665714 0.00056
NM_006096.4(NDRG1):c.122A>G (p.His41Arg) rs2233318 0.00054
NM_021625.5(TRPV4):c.1656del (p.Tyr553fs) rs541606391 0.00054
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081 0.00054
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844 0.00053
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765 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_021625.5(TRPV4):c.2304G>C (p.Ser768=) rs138986228 0.00053
NM_001136472.2(LITAF):c.6G>A (p.Ser2=) rs147187481 0.00052
NM_001365951.3(KIF1B):c.2874C>T (p.Asp958=) rs150831576 0.00052
NM_004990.4(MARS1):c.901C>T (p.Arg301Cys) rs139661803 0.00052
NM_004208.4(AIFM1):c.72C>T (p.Cys24=) rs373609902 0.00051
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val) rs56217500 0.00051
NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val) rs142451273 0.00051
NM_001376.5(DYNC1H1):c.1173A>G (p.Gln391=) rs17540735 0.00049
NM_002180.3(IGHMBP2):c.*6C>T rs117995705 0.00049
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys) rs148501787 0.00049
NM_030962.4(SBF2):c.4805A>G (p.Lys1602Arg) rs147772705 0.00048
NM_030962.4(SBF2):c.5037C>T (p.Arg1679=) rs200784979 0.00048
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448 0.00048
NM_024577.4(SH3TC2):c.2990G>A (p.Arg997Gln) rs140307699 0.00047
NM_030973.4(MED25):c.689-3C>T rs199623358 0.00047
NM_181882.3(PRX):c.1651G>A (p.Val551Met) rs61733448 0.00047
NM_001365951.3(KIF1B):c.2551T>A (p.Leu851Met) rs139572764 0.00046
NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=) rs116089522 0.00046
NM_001376.5(DYNC1H1):c.6762C>T (p.Ile2254=) rs150603103 0.00046
NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met) rs181657861 0.00046
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559 0.00046
NM_030973.4(MED25):c.664C>T (p.Leu222=) rs147538736 0.00046
NM_001005373.4(LRSAM1):c.586G>A (p.Gly196Ser) rs148059394 0.00045
NM_001376.5(DYNC1H1):c.10908+10G>A rs201277756 0.00045
NM_024577.4(SH3TC2):c.1768G>A (p.Ala590Thr) rs149244124 0.00045
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His) rs201692151 0.00044
NM_000166.6(GJB1):c.-6G>A rs201344743 0.00043
NM_021625.5(TRPV4):c.1539C>T (p.Gly513=) rs141295418 0.00043
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852 0.00043
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055 0.00042
NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu) rs142153571 0.00041
NM_021625.5(TRPV4):c.1491+10C>T rs201815805 0.00041
NM_030973.4(MED25):c.1677G>C (p.Met559Ile) rs369006637 0.00041
NM_181882.3(PRX):c.2101G>A (p.Val701Met) rs116855701 0.00041
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile) rs121908162 0.00040
NM_002047.4(GARS1):c.428-17C>T rs370452042 0.00040
NM_004990.4(MARS1):c.792G>A (p.Arg264=) rs141609469 0.00040
NM_001005373.4(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339 0.00039
NM_004637.6(RAB7A):c.87G>A (p.Val29=) rs145441548 0.00039
NM_006096.4(NDRG1):c.944-13C>T rs753312340 0.00039
NM_014874.4(MFN2):c.1827C>T (p.Ser609=) rs138724074 0.00039
NM_006736.6(DNAJB2):c.703C>G (p.Gln235Glu) rs148615702 0.00038
NM_024577.4(SH3TC2):c.2385C>T (p.Ser795=) rs145345364 0.00038
NM_000530.8(MPZ):c.24C>T (p.Ser8=) rs144841836 0.00037
NM_001365951.3(KIF1B):c.2827G>A (p.Ala943Thr) rs142567076 0.00037
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734 0.00037
NM_002180.3(IGHMBP2):c.2872A>G (p.Asn958Asp) rs141873613 0.00037
NM_002047.4(GARS1):c.1904-18T>C rs41275991 0.00036
NM_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907 0.00036
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val) rs115976458 0.00036
NM_030973.4(MED25):c.135-6T>G rs199743509 0.00036
NM_181882.3(PRX):c.540G>A (p.Pro180=) rs371243093 0.00036
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531 0.00035
NM_006415.4(SPTLC1):c.795C>T (p.Tyr265=) rs150756641 0.00035
NM_181882.3(PRX):c.3708G>A (p.Ala1236=) rs202119177 0.00035
NM_001376.5(DYNC1H1):c.9762+9T>G rs376545350 0.00033
NM_030962.4(SBF2):c.705T>C (p.Ser235=) rs143209062 0.00033
NM_001376.5(DYNC1H1):c.12514-9C>A rs74874468 0.00032
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094 0.00032
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr) rs144860227 0.00032
NM_001005373.4(LRSAM1):c.1406G>A (p.Arg469Gln) rs369439346 0.00031
NM_001136472.2(LITAF):c.44C>T (p.Ser15Leu) rs138041990 0.00031
NM_001365951.3(KIF1B):c.2604C>T (p.Asp868=) rs145846362 0.00031
NM_024577.4(SH3TC2):c.1443C>T (p.Asp481=) rs146666910 0.00031
NM_001370298.3(FGD4):c.785C>T (p.Thr262Met) rs200732890 0.00030
NM_001605.3(AARS1):c.2222C>T (p.Thr741Met) rs148383122 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_002180.3(IGHMBP2):c.1125C>T (p.Asp375=) rs140296831 0.00029
NM_002180.3(IGHMBP2):c.855G>A (p.Ala285=) rs147409148 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_021625.5(TRPV4):c.1464C>T (p.Thr488=) rs146841400 0.00029
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=) rs375633647 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_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812 0.00029
NM_181882.3(PRX):c.361C>T (p.Arg121Trp) rs750435566 0.00029
NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser) rs144963732 0.00028
NM_030962.4(SBF2):c.1623G>A (p.Thr541=) rs184849947 0.00028
NM_030973.4(MED25):c.1434G>A (p.Lys478=) rs181389801 0.00028
NM_001376.5(DYNC1H1):c.12513+17C>T rs368189529 0.00027
NM_030962.4(SBF2):c.513+18A>T rs201201683 0.00027
NM_024577.4(SH3TC2):c.2304C>T (p.Leu768=) rs140829706 0.00026
NM_024577.4(SH3TC2):c.385+3A>G rs184593694 0.00026
NM_030973.4(MED25):c.1062C>T (p.Ser354=) rs140345077 0.00026
NM_004990.4(MARS1):c.415-5C>A rs747351446 0.00025
NM_000304.4(PMP22):c.320-4C>T rs377467465 0.00024
NM_001005373.4(LRSAM1):c.2139C>T (p.Ile713=) rs373990000 0.00024
NM_001365951.3(KIF1B):c.1771G>A (p.Gly591Arg) rs145266399 0.00024
NM_001365951.3(KIF1B):c.2159C>T (p.Thr720Ile) rs41274468 0.00024
NM_001370298.3(FGD4):c.890G>A (p.Gly297Asp) rs201826412 0.00024
NM_006096.4(NDRG1):c.686A>G (p.Asn229Ser) rs137993172 0.00024
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=) rs375767483 0.00023
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942 0.00023
NM_024577.4(SH3TC2):c.1767C>T (p.Ser589=) rs139898175 0.00023
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326 0.00022
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala) rs200561798 0.00022
NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu) rs141903179 0.00022
NM_014845.6(FIG4):c.42G>A (p.Lys14=) rs552856153 0.00022
NM_021625.5(TRPV4):c.1584+12G>T rs375908611 0.00022
NM_030973.4(MED25):c.134+20C>T rs372600662 0.00022
NM_181882.3(PRX):c.3580C>G (p.Leu1194Val) rs149732789 0.00022
NM_181882.3(PRX):c.993G>A (p.Pro331=) rs146323928 0.00022
NM_001365951.3(KIF1B):c.4753-9C>T rs375366137 0.00021
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=) rs192959810 0.00021
NM_002047.4(GARS1):c.408A>G (p.Gln136=) rs200279483 0.00021
NM_170707.4(LMNA):c.1017G>A (p.Ala339=) rs17847242 0.00021
NM_001136472.2(LITAF):c.302A>G (p.Lys101Arg) rs201283647 0.00020
NM_001376.5(DYNC1H1):c.4176T>C (p.Gly1392=) rs112261870 0.00020
NM_006096.4(NDRG1):c.63+6T>C rs199597649 0.00020
NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp) rs34227547 0.00020
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384 0.00019
NM_000371.4(TTR):c.368G>A (p.Arg123His) rs148538950 0.00019
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095 0.00019
NM_001365951.3(KIF1B):c.3636G>A (p.Pro1212=) rs140229905 0.00019
NM_001376.5(DYNC1H1):c.261C>T (p.Asp87=) rs75113705 0.00019
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394 0.00019
NM_002180.3(IGHMBP2):c.1844G>A (p.Arg615His) rs201640213 0.00019
NM_002180.3(IGHMBP2):c.366C>T (p.His122=) rs144401213 0.00019
NM_004990.4(MARS1):c.352C>T (p.Arg118Trp) rs151196994 0.00019
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln) rs140234726 0.00019
NM_024577.4(SH3TC2):c.1839C>T (p.Leu613=) rs182893450 0.00019
NM_030962.4(SBF2):c.1967G>C (p.Cys656Ser) rs138120231 0.00019
NM_181882.3(PRX):c.500G>C (p.Arg167Pro) rs757322355 0.00019
NM_000166.6(GJB1):c.30C>T (p.Leu10=) rs183702021 0.00018
NM_001365951.3(KIF1B):c.2985C>T (p.Ile995=) rs150904940 0.00018
NM_001605.3(AARS1):c.1019A>G (p.Asn340Ser) rs140135726 0.00018
NM_030973.4(MED25):c.247C>G (p.Gln83Glu) rs143148835 0.00018
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_001005373.4(LRSAM1):c.94G>A (p.Asp32Asn) rs150784835 0.00017
NM_001365951.3(KIF1B):c.1955C>T (p.Thr652Ile) rs142881321 0.00017
NM_001376.5(DYNC1H1):c.7290C>T (p.Asn2430=) rs112811548 0.00017
NM_014874.4(MFN2):c.2157G>A (p.Lys719=) rs148441213 0.00017
NM_014874.4(MFN2):c.444C>T (p.Thr148=) rs373038884 0.00017
NM_181882.3(PRX):c.3656C>T (p.Pro1219Leu) rs201393544 0.00017
NM_001365951.3(KIF1B):c.608+14T>G rs151026584 0.00016
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188 0.00016
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737 0.00016
NM_002180.3(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005 0.00016
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_021625.5(TRPV4):c.1658+15C>T rs200083069 0.00016
NM_024577.4(SH3TC2):c.1973G>A (p.Arg658His) rs138040787 0.00016
NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly) rs575937427 0.00016
NM_030962.4(SBF2):c.2319G>A (p.Ala773=) rs201547070 0.00016
NM_030962.4(SBF2):c.3127A>G (p.Ile1043Val) rs147438385 0.00016
NM_030962.4(SBF2):c.3843A>G (p.Thr1281=) rs147597665 0.00016
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn) rs373671419 0.00016
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946 0.00016
NM_181882.3(PRX):c.1578G>A (p.Ser526=) rs567690884 0.00016
NM_000371.4(TTR):c.384C>T (p.Ala128=) rs143906738 0.00015
NM_001005373.4(LRSAM1):c.1601C>T (p.Thr534Met) rs141542114 0.00015
NM_006096.4(NDRG1):c.664G>A (p.Gly222Ser) rs199995009 0.00015
NM_021625.5(TRPV4):c.1278G>A (p.Thr426=) rs139179261 0.00015
NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu) rs779715512 0.00015
NM_030962.4(SBF2):c.1812C>T (p.Asp604=) rs765658939 0.00015
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188 0.00015
NM_181882.3(PRX):c.-20A>C rs780315081 0.00015
NM_000304.4(PMP22):c.87C>T (p.Ile29=) rs201192820 0.00014
NM_001365951.3(KIF1B):c.4946+10C>T rs374982816 0.00014
NM_001376.5(DYNC1H1):c.12102+6G>A rs377669980 0.00014
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=) rs140033479 0.00014
NM_001605.3(AARS1):c.1108A>G (p.Met370Val) rs199976742 0.00014
NM_002047.4(GARS1):c.1743G>C (p.Leu581=) rs370844461 0.00014
NM_002047.4(GARS1):c.301C>T (p.Arg101Cys) rs746056671 0.00014
NM_002180.3(IGHMBP2):c.2467C>T (p.Arg823Cys) rs192806153 0.00014
NM_002180.3(IGHMBP2):c.2612-16C>T rs200337900 0.00014
NM_006096.4(NDRG1):c.1134G>A (p.Ser378=) rs750369546 0.00014
NM_006096.4(NDRG1):c.393G>A (p.Leu131=) rs149767690 0.00014
NM_014874.4(MFN2):c.474+4A>G rs141974160 0.00014
NM_014874.4(MFN2):c.870C>T (p.Gly290=) rs368302487 0.00014
NM_016156.6(MTMR2):c.16A>T (p.Ser6Cys) rs377006678 0.00014
NM_016156.6(MTMR2):c.604C>G (p.Pro202Ala) rs186380748 0.00014
NM_018972.4(GDAP1):c.840C>T (p.Tyr280=) rs374624466 0.00014
NM_021625.5(TRPV4):c.732C>T (p.Ile244=) rs142647385 0.00014
NM_024577.4(SH3TC2):c.1607G>A (p.Arg536Gln) rs369977771 0.00014
NM_030973.4(MED25):c.1747-19_1747-18del rs752695799 0.00014
NM_030973.4(MED25):c.1966C>A (p.Pro656Thr) rs199761611 0.00014
NM_001365951.3(KIF1B):c.1594C>G (p.Pro532Ala) rs201500946 0.00013
NM_001370298.3(FGD4):c.2506A>G (p.Met836Val) rs140220443 0.00013
NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=) rs199679500 0.00013
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=) rs373636519 0.00013
NM_001605.3(AARS1):c.2192C>T (p.Ser731Leu) rs150873930 0.00013
NM_001605.3(AARS1):c.385C>G (p.Pro129Ala) rs370622071 0.00013
NM_006158.5(NEFL):c.227T>C (p.Val76Ala) rs58907919 0.00013
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro) rs758191113 0.00013
NM_006158.5(NEFL):c.339G>C (p.Gln113His) rs750251152 0.00013
NM_021625.5(TRPV4):c.137C>T (p.Ser46Phe) rs202066574 0.00013
NM_024577.4(SH3TC2):c.2582G>A (p.Arg861Gln) rs142971473 0.00013
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843 0.00013
NM_030973.4(MED25):c.1090G>A (p.Ala364Thr) rs370994862 0.00013
NM_030973.4(MED25):c.1533C>T (p.Leu511=) rs376038328 0.00013
NM_030973.4(MED25):c.305+17T>G rs763308680 0.00013
NM_170707.4(LMNA):c.1488+14C>T rs377700689 0.00013
NM_181882.3(PRX):c.794G>T (p.Gly265Val) rs374837022 0.00013
NM_001365951.3(KIF1B):c.1180+19G>A rs200480069 0.00012
NM_001365951.3(KIF1B):c.2934T>G (p.Val978=) rs749154726 0.00012
NM_001365951.3(KIF1B):c.4298C>T (p.Pro1433Leu) rs552529704 0.00012
NM_001365951.3(KIF1B):c.4524C>T (p.Thr1508=) rs373636782 0.00012
NM_006158.5(NEFL):c.423G>A (p.Gln141=) rs59161567 0.00012
NM_014845.6(FIG4):c.1271+5A>G rs374583399 0.00012
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910 0.00012
NM_024577.4(SH3TC2):c.3127G>T (p.Ala1043Ser) rs200819602 0.00012
NM_000304.4(PMP22):c.402C>T (p.Phe134=) rs536417866 0.00011
NM_001005373.4(LRSAM1):c.751-8C>G rs367823841 0.00011
NM_001370298.3(FGD4):c.506C>T (p.Ser169Leu) rs143251785 0.00011
NM_001376.5(DYNC1H1):c.257-20A>G rs201905359 0.00011
NM_001540.5(HSPB1):c.365-7C>G rs201897299 0.00011
NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val) rs199586231 0.00011
NM_002180.3(IGHMBP2):c.2612-14C>T rs200940488 0.00011
NM_006415.4(SPTLC1):c.387C>T (p.Gly129=) rs141265918 0.00011
NM_014845.6(FIG4):c.1305G>C (p.Val435=) rs145227623 0.00011
NM_014845.6(FIG4):c.1863C>A (p.Thr621=) rs201744761 0.00011
NM_021625.5(TRPV4):c.1404C>T (p.Ala468=) rs138301077 0.00011
NM_030962.4(SBF2):c.4712A>G (p.Asn1571Ser) rs371960255 0.00011
NM_030973.4(MED25):c.689T>C (p.Val230Ala) rs199982073 0.00011
NM_170707.4(LMNA):c.1314G>A (p.Gly438=) rs774817302 0.00011
NM_181882.3(PRX):c.1129G>T (p.Val377Leu) rs754081921 0.00011
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.1811A>G (p.Asn604Ser) rs371595630 0.00010
NM_002047.4(GARS1):c.1809+14T>C rs367739730 0.00010
NM_005391.5(PDK3):c.674-11T>C rs756028485 0.00010
NM_006096.4(NDRG1):c.1053A>C (p.Arg351=) rs370153201 0.00010
NM_006158.5(NEFL):c.1276G>A (p.Gly426Ser) rs372245403 0.00010
NM_014874.4(MFN2):c.1574A>G (p.Asn525Ser) rs145654854 0.00010
NM_014874.4(MFN2):c.2112C>T (p.Asp704=) rs374371748 0.00010
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) rs147136530 0.00010
NM_016156.6(MTMR2):c.1594-20C>A rs201996397 0.00010
NM_016156.6(MTMR2):c.1741A>G (p.Ile581Val) rs149476960 0.00010
NM_024577.4(SH3TC2):c.3413G>A (p.Ser1138Asn) rs150805608 0.00010
NM_024577.4(SH3TC2):c.529+8T>A rs780594631 0.00010
NM_024577.4(SH3TC2):c.894C>T (p.Ile298=) rs779808918 0.00010
NM_030962.4(SBF2):c.4809C>T (p.His1603=) rs199670153 0.00010
NM_030973.4(MED25):c.1377C>T (p.Thr459=) rs374928221 0.00010
NM_001005373.4(LRSAM1):c.1830+20A>G rs199932024 0.00009
NM_001005373.4(LRSAM1):c.2046+16T>C rs753575542 0.00009
NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr) rs143654307 0.00009
NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr) rs374098797 0.00009
NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg) rs373698346 0.00009
NM_001376.5(DYNC1H1):c.13515+9G>A rs374678076 0.00009
NM_001376.5(DYNC1H1):c.6535C>A (p.Arg2179=) rs147905977 0.00009
NM_001376.5(DYNC1H1):c.7587G>A (p.Ala2529=) rs201720217 0.00009
NM_001376.5(DYNC1H1):c.8202G>A (p.Val2734=) rs202023896 0.00009
NM_002047.4(GARS1):c.19G>T (p.Val7Leu) rs201132307 0.00009
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799 0.00009
NM_004208.4(AIFM1):c.1047C>T (p.Ser349=) rs781350745 0.00009
NM_005391.5(PDK3):c.341A>C (p.Lys114Thr) rs146331370 0.00009
NM_005391.5(PDK3):c.751-10A>G rs372774822 0.00009
NM_006415.4(SPTLC1):c.1168C>T (p.Leu390Phe) rs369803886 0.00009
NM_014845.6(FIG4):c.2459+7T>G rs575271308 0.00009
NM_016156.6(MTMR2):c.279T>C (p.Tyr93=) rs372937811 0.00009
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785 0.00009
NM_018972.4(GDAP1):c.894T>C (p.Asn298=) rs756599272 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.280-5T>C rs368118378 0.00009
NM_030962.4(SBF2):c.5526C>A (p.Ile1842=) rs376788960 0.00009
NM_000399.5(EGR2):c.222A>G (p.Pro74=) rs201068734 0.00008
NM_001136472.2(LITAF):c.268C>T (p.Arg90Cys) rs375665454 0.00008
NM_001376.5(DYNC1H1):c.12102+20C>T rs200362531 0.00008
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=) rs202004938 0.00008
NM_001376.5(DYNC1H1):c.6795C>T (p.Tyr2265=) rs200339812 0.00008
NM_001540.5(HSPB1):c.428+13G>T rs553117142 0.00008
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239 0.00008
NM_002180.3(IGHMBP2):c.2691C>T (p.Cys897=) rs146286133 0.00008
NM_002180.3(IGHMBP2):c.548-20C>T rs368802434 0.00008
NM_004990.4(MARS1):c.1340G>A (p.Ser447Asn) rs748377952 0.00008
NM_004990.4(MARS1):c.771-15C>G rs201328384 0.00008
NM_006158.5(NEFL):c.1212C>T (p.Ser404=) rs60547413 0.00008
NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser) rs748723735 0.00008
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327 0.00008
NM_014845.6(FIG4):c.918C>T (p.Cys306=) rs369159531 0.00008
NM_024577.4(SH3TC2):c.1163C>T (p.Pro388Leu) rs146364285 0.00008
NM_030962.4(SBF2):c.5231+14C>T rs371184526 0.00008
NM_030962.4(SBF2):c.946C>T (p.Leu316=) rs374841593 0.00008
NM_181882.3(PRX):c.3271G>A (p.Ala1091Thr) rs368459753 0.00008
NM_181882.3(PRX):c.4017C>A (p.Ser1339Arg) rs758057597 0.00008
NM_181882.3(PRX):c.574C>T (p.Arg192Trp) rs780147663 0.00008
NM_000371.4(TTR):c.280G>C (p.Asp94His) rs730881164 0.00007
NM_001365951.3(KIF1B):c.1557T>C (p.Asp519=) rs146364486 0.00007
NM_001376.5(DYNC1H1):c.3804+9C>T rs377635872 0.00007
NM_001605.3(AARS1):c.958C>T (p.Arg320Cys) rs138490305 0.00007
NM_006096.4(NDRG1):c.1101C>T (p.Ser367=) rs201959970 0.00007
NM_006096.4(NDRG1):c.403A>G (p.Ile135Val) rs202118022 0.00007
NM_014845.6(FIG4):c.2141C>T (p.Thr714Ile) rs146689226 0.00007
NM_014845.6(FIG4):c.498-13A>G rs199891240 0.00007
NM_014874.4(MFN2):c.2130G>A (p.Leu710=) rs755608041 0.00007
NM_016156.6(MTMR2):c.894A>T (p.Glu298Asp) rs200898934 0.00007
NM_021625.5(TRPV4):c.2517C>T (p.Asp839=) rs546957932 0.00007
NM_024577.4(SH3TC2):c.517C>A (p.Leu173Met) rs147633804 0.00007
NM_030962.4(SBF2):c.3866G>A (p.Arg1289Gln) rs757836523 0.00007
NM_030973.4(MED25):c.1227A>G (p.Gln409=) rs769851706 0.00007
NM_181882.3(PRX):c.922A>G (p.Thr308Ala) rs753330520 0.00007
NM_000166.6(GJB1):c.441C>T (p.Ala147=) rs765686240 0.00006
NM_000371.4(TTR):c.355G>A (p.Asp119Asn) rs76410435 0.00006
NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn) rs768672234 0.00006
NM_001365951.3(KIF1B):c.4668C>T (p.Ser1556=) rs765541693 0.00006
NM_001376.5(DYNC1H1):c.1062A>G (p.Arg354=) rs373317658 0.00006
NM_001376.5(DYNC1H1):c.6381T>C (p.Ile2127=) rs759525537 0.00006
NM_002047.4(GARS1):c.764C>T (p.Ala255Val) rs765478968 0.00006
NM_002180.3(IGHMBP2):c.*18C>T rs370227350 0.00006
NM_002180.3(IGHMBP2):c.440G>A (p.Arg147Gln) rs138448914 0.00006
NM_004208.4(AIFM1):c.1627A>G (p.Ile543Val) rs1175521163 0.00006
NM_004637.6(RAB7A):c.180+9A>G rs762831187 0.00006
NM_004990.4(MARS1):c.699T>G (p.Ile233Met) rs201597392 0.00006
NM_006158.5(NEFL):c.1169+14G>A rs1281585043 0.00006
NM_006415.4(SPTLC1):c.1254+10C>T rs200704785 0.00006
NM_014845.6(FIG4):c.2154A>G (p.Pro718=) rs201138266 0.00006
NM_014845.6(FIG4):c.658A>G (p.Ile220Val) rs565096937 0.00006
NM_016156.6(MTMR2):c.1402G>C (p.Asp468His) rs142460913 0.00006
NM_018972.4(GDAP1):c.720C>T (p.Cys240=) rs367790253 0.00006
NM_018972.4(GDAP1):c.90T>C (p.His30=) rs555369956 0.00006
NM_021625.5(TRPV4):c.746G>A (p.Arg249His) rs771294425 0.00006
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter) rs142902080 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.2492G>A (p.Ser831Asn) rs375034766 0.00006
NM_030962.4(SBF2):c.2598G>A (p.Pro866=) rs376372877 0.00006
NM_030962.4(SBF2):c.4687T>C (p.Leu1563=) rs563878786 0.00006
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln) rs138592977 0.00006
NM_170707.4(LMNA):c.1770C>T (p.Thr590=) rs397517896 0.00006
NM_170707.4(LMNA):c.937-7C>G rs267607681 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.2145T>A (p.Cys715Ter) rs104894707 0.00006
NM_181882.3(PRX):c.4112G>A (p.Arg1371Gln) rs377009047 0.00006
NM_181882.3(PRX):c.4219T>G (p.Ser1407Ala) rs146468976 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.839C>T (p.Pro280Leu) rs557355077 0.00006
NM_000166.6(GJB1):c.627G>T (p.Val209=) rs376113695 0.00005
NM_000304.4(PMP22):c.152A>G (p.His51Arg) rs368908933 0.00005
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679 0.00005
NM_001365951.3(KIF1B):c.3423-15A>T rs200470260 0.00005
NM_001365951.3(KIF1B):c.78C>T (p.Cys26=) rs772548887 0.00005
NM_001376.5(DYNC1H1):c.519-17A>G rs370195127 0.00005
NM_001376.5(DYNC1H1):c.5874C>T (p.Asp1958=) rs142726284 0.00005
NM_001540.5(HSPB1):c.-4C>T rs372833436 0.00005
NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn) rs777201941 0.00005
NM_002047.4(GARS1):c.1904-19del rs745958570 0.00005
NM_002047.4(GARS1):c.816A>G (p.Leu272=) rs777128525 0.00005
NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met) rs199770424 0.00005
NM_002180.3(IGHMBP2):c.2619G>A (p.Pro873=) rs373001247 0.00005
NM_002180.3(IGHMBP2):c.2869A>G (p.Lys957Glu) rs370985388 0.00005
NM_004208.4(AIFM1):c.249+1258T>C rs753318816 0.00005
NM_004990.4(MARS1):c.2024C>G (p.Thr675Ser) rs776411681 0.00005
NM_014845.6(FIG4):c.1341T>C (p.Phe447=) rs199651811 0.00005
NM_021625.5(TRPV4):c.1846C>T (p.Arg616Ter) rs545966662 0.00005
NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys) rs199624080 0.00005
NM_021625.5(TRPV4):c.847T>A (p.Tyr283Asn) rs200210023 0.00005
NM_024577.4(SH3TC2):c.2257C>T (p.Arg753Trp) rs530824367 0.00005
NM_030973.4(MED25):c.1572C>T (p.Gly524=) rs559482732 0.00005
NM_181882.3(PRX):c.3239G>A (p.Arg1080His) rs762213719 0.00005
NM_181882.3(PRX):c.3809G>A (p.Arg1270His) rs775221457 0.00005
NM_181882.3(PRX):c.642C>A (p.Pro214=) rs551628239 0.00005
NM_000166.6(GJB1):c.637A>G (p.Ile213Val) rs753503984 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000371.4(TTR):c.386C>T (p.Ala129Val) rs121918092 0.00004
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys) rs573007540 0.00004
NM_001005373.4(LRSAM1):c.1781G>A (p.Arg594His) rs537838691 0.00004
NM_001005373.4(LRSAM1):c.1837G>A (p.Val613Ile) rs746831085 0.00004
NM_001005373.4(LRSAM1):c.392C>T (p.Thr131Ile) rs772202137 0.00004
NM_001005373.4(LRSAM1):c.685G>A (p.Glu229Lys) rs563259179 0.00004
NM_001005373.4(LRSAM1):c.822G>A (p.Leu274=) rs146079606 0.00004
NM_001005373.4(LRSAM1):c.954C>T (p.Asn318=) rs200527839 0.00004
NM_001005373.4(LRSAM1):c.992C>T (p.Thr331Met) rs775480266 0.00004
NM_001136472.2(LITAF):c.221-16C>T rs778890222 0.00004
NM_001365951.3(KIF1B):c.2245T>C (p.Trp749Arg) rs551543997 0.00004
NM_001365951.3(KIF1B):c.2727C>T (p.Pro909=) rs200858074 0.00004
NM_001365951.3(KIF1B):c.3259+3A>C rs1388178227 0.00004
NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile) rs769092155 0.00004
NM_001365951.3(KIF1B):c.522T>C (p.Leu174=) rs572314710 0.00004
NM_001370298.3(FGD4):c.1922+11C>T rs765969178 0.00004
NM_001376.5(DYNC1H1):c.10626+7A>G rs1427174553 0.00004
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=) rs374214760 0.00004
NM_001376.5(DYNC1H1):c.11424C>T (p.Cys3808=) rs758877590 0.00004
NM_001376.5(DYNC1H1):c.11596-20G>A rs372623721 0.00004
NM_001376.5(DYNC1H1):c.1797G>A (p.Gly599=) rs1022735666 0.00004
NM_001376.5(DYNC1H1):c.1860C>T (p.His620=) rs749887344 0.00004
NM_001376.5(DYNC1H1):c.2869-3C>T rs750614475 0.00004
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=) rs375687099 0.00004
NM_001376.5(DYNC1H1):c.8637+9C>T rs202042156 0.00004
NM_001376.5(DYNC1H1):c.9072C>T (p.Asp3024=) rs372493817 0.00004
NM_001376.5(DYNC1H1):c.939C>T (p.Thr313=) rs572233805 0.00004
NM_001540.5(HSPB1):c.-15G>A rs756260929 0.00004
NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser) rs780988351 0.00004
NM_001605.3(AARS1):c.1420C>T (p.Arg474Trp) rs377163632 0.00004
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729 0.00004
NM_002047.4(GARS1):c.1032-14G>A rs766263055 0.00004
NM_002047.4(GARS1):c.1158C>T (p.Ser386=) rs373576697 0.00004
NM_002047.4(GARS1):c.1737C>T (p.Phe579=) rs752464405 0.00004
NM_002047.4(GARS1):c.282A>G (p.Ala94=) rs571004464 0.00004
NM_002180.3(IGHMBP2):c.1340C>G (p.Ala447Gly) rs144240271 0.00004
NM_002180.3(IGHMBP2):c.2612-15G>A rs372230504 0.00004
NM_002180.3(IGHMBP2):c.389G>A (p.Arg130Gln) rs150123428 0.00004
NM_004208.4(AIFM1):c.1597G>A (p.Glu533Lys) rs1057517852 0.00004
NM_004208.4(AIFM1):c.939C>T (p.Ser313=) rs768118991 0.00004
NM_004990.4(MARS1):c.1448G>A (p.Arg483His) rs779123068 0.00004
NM_004990.4(MARS1):c.353G>A (p.Arg118Gln) rs141397530 0.00004
NM_004990.4(MARS1):c.988C>A (p.Gln330Lys) rs745584505 0.00004
NM_006096.4(NDRG1):c.594+9C>T rs373172944 0.00004
NM_006096.4(NDRG1):c.72C>T (p.Thr24=) rs551078982 0.00004
NM_006415.4(SPTLC1):c.388G>T (p.Val130Leu) rs200773661 0.00004
NM_006736.6(DNAJB2):c.352+20C>G rs755259886 0.00004
NM_006736.6(DNAJB2):c.444C>T (p.Ser148=) rs200554674 0.00004
NM_006736.6(DNAJB2):c.674C>T (p.Pro225Leu) rs540759977 0.00004
NM_014845.6(FIG4):c.2180+20C>T rs372359387 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_014874.4(MFN2):c.1529G>A (p.Arg510Gln) rs376598131 0.00004
NM_014874.4(MFN2):c.58C>T (p.His20Tyr) rs201715603 0.00004
NM_016156.6(MTMR2):c.186+9A>G rs371081575 0.00004
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) rs775622226 0.00004
NM_021625.5(TRPV4):c.1175G>A (p.Arg392Gln) rs770364304 0.00004
NM_021625.5(TRPV4):c.1492-17C>T rs533510842 0.00004
NM_021625.5(TRPV4):c.1899C>T (p.Val633=) rs753027239 0.00004
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu) rs200199102 0.00004
NM_021625.5(TRPV4):c.936G>A (p.Ala312=) rs202084699 0.00004
NM_024577.4(SH3TC2):c.1168G>T (p.Asp390Tyr) rs771921298 0.00004
NM_024577.4(SH3TC2):c.1318C>T (p.Arg440Cys) rs768012192 0.00004
NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=) rs372749343 0.00004
NM_024577.4(SH3TC2):c.1890G>A (p.Pro630=) rs143197881 0.00004
NM_024577.4(SH3TC2):c.3479-20C>T rs376784930 0.00004
NM_024577.4(SH3TC2):c.3611A>G (p.Lys1204Arg) rs143436632 0.00004
NM_030962.4(SBF2):c.1015C>G (p.Pro339Ala) rs1360970766 0.00004
NM_030962.4(SBF2):c.1067G>A (p.Arg356Gln) rs188588431 0.00004
NM_030962.4(SBF2):c.1559G>A (p.Arg520Gln) rs546485749 0.00004
NM_030962.4(SBF2):c.1601-20T>C rs200518136 0.00004
NM_030962.4(SBF2):c.4101T>G (p.Thr1367=) rs766353139 0.00004
NM_030973.4(MED25):c.2046G>A (p.Pro682=) rs755620011 0.00004
NM_030973.4(MED25):c.4G>C (p.Val2Leu) rs780512266 0.00004
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892 0.00004
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser) rs765241364 0.00004
NM_170707.4(LMNA):c.936+12C>T rs199881992 0.00004
NM_181882.3(PRX):c.1222C>T (p.Pro408Ser) rs150244426 0.00004
NM_181882.3(PRX):c.2464G>A (p.Glu822Lys) rs772009400 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.3768G>T (p.Val1256=) rs367862999 0.00004
NM_181882.3(PRX):c.4301G>A (p.Arg1434Gln) rs759435622 0.00004
NM_181882.3(PRX):c.4333A>G (p.Thr1445Ala) rs368067072 0.00004
NM_181882.3(PRX):c.747C>T (p.Pro249=) rs3814289 0.00004
NM_000371.4(TTR):c.370C>T (p.Arg124Cys) rs745834030 0.00003
NM_000399.5(EGR2):c.733G>A (p.Asp245Asn) rs745823802 0.00003
NM_000530.8(MPZ):c.317G>A (p.Arg106His) rs145039212 0.00003
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760 0.00003
NM_001005373.4(LRSAM1):c.1913-1G>A rs756880678 0.00003
NM_001005373.4(LRSAM1):c.619+11G>A rs370502826 0.00003
NM_001136472.2(LITAF):c.357C>T (p.Cys119=) rs549492447 0.00003
NM_001365951.3(KIF1B):c.3043G>A (p.Ala1015Thr) rs200614254 0.00003
NM_001365951.3(KIF1B):c.3824C>G (p.Thr1275Arg) rs749610931 0.00003
NM_001370298.3(FGD4):c.2373G>A (p.Glu791=) rs201822384 0.00003
NM_001376.5(DYNC1H1):c.10401T>A (p.Ala3467=) rs184264124 0.00003
NM_001376.5(DYNC1H1):c.12594A>T (p.Pro4198=) rs143936619 0.00003
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530 0.00003
NM_001540.5(HSPB1):c.372C>G (p.His124Gln) rs145243219 0.00003
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu) rs587781250 0.00003
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005 0.00003
NM_001605.3(AARS1):c.2732A>G (p.Asn911Ser) rs746822330 0.00003
NM_001605.3(AARS1):c.503C>T (p.Pro168Leu) rs763378637 0.00003
NM_002047.4(GARS1):c.1700-13A>G rs762966640 0.00003
NM_002180.3(IGHMBP2):c.1032G>A (p.Ser344=) rs779452908 0.00003
NM_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met) rs1225363387 0.00003
NM_002180.3(IGHMBP2):c.1827G>A (p.Ala609=) rs541245852 0.00003
NM_002180.3(IGHMBP2):c.548-19G>A rs1052895374 0.00003
NM_002180.3(IGHMBP2):c.87-19A>G rs183650590 0.00003
NM_004990.4(MARS1):c.1369-14C>T rs759180013 0.00003
NM_004990.4(MARS1):c.1673C>A (p.Pro558His) rs771808261 0.00003
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp) rs748955220 0.00003
NM_006096.4(NDRG1):c.1062C>G (p.Ser354=) rs560162089 0.00003
NM_006415.4(SPTLC1):c.993C>T (p.Ser331=) rs141150508 0.00003
NM_006736.6(DNAJB2):c.493C>T (p.Arg165Cys) rs544935330 0.00003
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 0.00003
NM_014874.4(MFN2):c.1181G>A (p.Arg394His) rs538243357 0.00003
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser) rs771675874 0.00003
NM_014874.4(MFN2):c.1988G>T (p.Arg663Leu) rs766735605 0.00003
NM_016156.6(MTMR2):c.1386A>G (p.Leu462=) rs139369561 0.00003
NM_016156.6(MTMR2):c.655-19T>C rs756828009 0.00003
NM_021625.5(TRPV4):c.1827T>A (p.Ile609=) rs757493897 0.00003
NM_021625.5(TRPV4):c.1912C>G (p.Pro638Ala) rs760044422 0.00003
NM_021625.5(TRPV4):c.1981C>T (p.Arg661Cys) rs772074281 0.00003
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp) rs763302555 0.00003
NM_024577.4(SH3TC2):c.1017C>T (p.Ala339=) rs201779392 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_024577.4(SH3TC2):c.229C>T (p.Arg77Trp) rs185149793 0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu) rs200728983 0.00003
NM_024577.4(SH3TC2):c.660G>C (p.Val220=) rs202052720 0.00003
NM_030962.4(SBF2):c.1573T>C (p.Cys525Arg) rs746860317 0.00003
NM_030962.4(SBF2):c.190A>G (p.Thr64Ala) rs374114606 0.00003
NM_030962.4(SBF2):c.403-15T>G rs887143579 0.00003
NM_030962.4(SBF2):c.93T>C (p.Phe31=) rs200263159 0.00003
NM_030973.4(MED25):c.1764G>A (p.Pro588=) rs758729127 0.00003
NM_030973.4(MED25):c.2045C>T (p.Pro682Leu) rs764017333 0.00003
NM_170707.4(LMNA):c.1256G>A (p.Arg419His) rs777648901 0.00003
NM_181882.3(PRX):c.1714G>A (p.Val572Met) rs370979792 0.00003
NM_181882.3(PRX):c.1827C>T (p.Pro609=) rs751816156 0.00003
NM_181882.3(PRX):c.2295C>T (p.Asp765=) rs377360814 0.00003
NM_181882.3(PRX):c.2649G>A (p.Glu883=) rs747871484 0.00003
NM_181882.3(PRX):c.2775C>T (p.Val925=) rs201792838 0.00003
NM_181882.3(PRX):c.2816C>T (p.Ser939Leu) rs761769929 0.00003
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714 0.00003
NM_181882.3(PRX):c.3939G>A (p.Leu1313=) rs140109585 0.00003
NM_181882.3(PRX):c.539C>T (p.Pro180Leu) rs540526276 0.00003
NM_000304.4(PMP22):c.179-13C>G rs756820859 0.00002
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser) rs375449671 0.00002
NM_000304.4(PMP22):c.477C>T (p.Arg159=) rs778132801 0.00002
NM_000399.5(EGR2):c.-1A>G rs553201646 0.00002
NM_000399.5(EGR2):c.1395G>A (p.Pro465=) rs779811073 0.00002
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg) rs753107323 0.00002
NM_000530.8(MPZ):c.551T>C (p.Leu184Pro) rs767714652 0.00002
NM_001005373.4(LRSAM1):c.1714C>T (p.Arg572Cys) rs1359751742 0.00002
NM_001005373.4(LRSAM1):c.904-4del rs757987823 0.00002
NM_001136472.2(LITAF):c.478C>T (p.Arg160Cys) rs748017885 0.00002
NM_001136472.2(LITAF):c.479G>A (p.Arg160His) rs864622744 0.00002
NM_001365951.3(KIF1B):c.252C>T (p.His84=) rs757683684 0.00002
NM_001365951.3(KIF1B):c.3936T>C (p.Arg1312=) rs754332251 0.00002
NM_001365951.3(KIF1B):c.654C>T (p.His218=) rs142209186 0.00002
NM_001370298.3(FGD4):c.1263A>G (p.Arg421=) rs773609461 0.00002
NM_001376.5(DYNC1H1):c.10083C>T (p.Asp3361=) rs772665813 0.00002
NM_001376.5(DYNC1H1):c.11595+20C>T rs753442936 0.00002
NM_001376.5(DYNC1H1):c.3414C>T (p.Asn1138=) rs772761222 0.00002
NM_001376.5(DYNC1H1):c.5292C>T (p.Thr1764=) rs755482182 0.00002
NM_001376.5(DYNC1H1):c.5649C>T (p.Pro1883=) rs780744467 0.00002
NM_001376.5(DYNC1H1):c.9330A>G (p.Thr3110=) rs371538443 0.00002
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met) rs762241422 0.00002
NM_001605.3(AARS1):c.1208G>C (p.Ser403Thr) rs551899273 0.00002
NM_002180.3(IGHMBP2):c.1061-19G>A rs775305272 0.00002
NM_002180.3(IGHMBP2):c.1538-19G>A rs199911239 0.00002
NM_002180.3(IGHMBP2):c.2398G>A (p.Gly800Ser) rs751122806 0.00002
NM_002180.3(IGHMBP2):c.2670C>T (p.Ala890=) rs759271458 0.00002
NM_002180.3(IGHMBP2):c.273G>T (p.Leu91=) rs772280279 0.00002
NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro) rs148605058 0.00002
NM_002180.3(IGHMBP2):c.2836C>T (p.Arg946Trp) rs373943338 0.00002
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315 0.00002
NM_002180.3(IGHMBP2):c.551C>T (p.Pro184Leu) rs754681347 0.00002
NM_004208.4(AIFM1):c.1574-20G>T rs749868550 0.00002
NM_004208.4(AIFM1):c.1782C>T (p.Asp594=) rs148690239 0.00002
NM_004637.6(RAB7A):c.183A>C (p.Ile61=) rs376642691 0.00002
NM_004990.4(MARS1):c.1172A>G (p.His391Arg) rs780935468 0.00002
NM_004990.4(MARS1):c.1180C>T (p.Arg394Cys) rs916967743 0.00002
NM_004990.4(MARS1):c.1873C>T (p.Arg625Trp) rs754546247 0.00002
NM_004990.4(MARS1):c.2163G>C (p.Val721=) rs762587995 0.00002
NM_004990.4(MARS1):c.2294C>T (p.Ala765Val) rs559255944 0.00002
NM_004990.4(MARS1):c.2511C>G (p.Ala837=) rs780483586 0.00002
NM_004990.4(MARS1):c.2557-14C>T rs935467477 0.00002
NM_004990.4(MARS1):c.280-13C>T rs375281035 0.00002
NM_004990.4(MARS1):c.331G>C (p.Glu111Gln) rs376785642 0.00002
NM_004990.4(MARS1):c.663+20C>T rs780847522 0.00002
NM_006096.4(NDRG1):c.100-3C>T rs775475505 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.635G>A (p.Arg212His) rs931069567 0.00002
NM_006096.4(NDRG1):c.703C>T (p.Arg235Cys) rs772268356 0.00002
NM_006096.4(NDRG1):c.861G>A (p.Ala287=) rs150101908 0.00002
NM_006158.5(NEFL):c.*2C>A rs754312148 0.00002
NM_006158.5(NEFL):c.1170-19C>T rs762116919 0.00002
NM_006415.4(SPTLC1):c.1019C>T (p.Ser340Leu) rs371203080 0.00002
NM_006736.6(DNAJB2):c.620-19G>A rs1294521496 0.00002
NM_006736.6(DNAJB2):c.759G>A (p.Glu253=) rs775630178 0.00002
NM_014845.6(FIG4):c.1809G>A (p.Gly603=) rs148280593 0.00002
NM_014845.6(FIG4):c.1949-15C>T rs778444771 0.00002
NM_014845.6(FIG4):c.289+17C>T rs368282150 0.00002
NM_014874.4(MFN2):c.538A>C (p.Ser180Arg) rs756851126 0.00002
NM_014874.4(MFN2):c.723C>T (p.Phe241=) rs764912025 0.00002
NM_016156.6(MTMR2):c.1387-19T>G rs760358740 0.00002
NM_016156.6(MTMR2):c.139T>C (p.Ser47Pro) rs372095826 0.00002
NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln) rs371925152 0.00002
NM_016156.6(MTMR2):c.297C>T (p.Gly99=) rs772347980 0.00002
NM_016156.6(MTMR2):c.841A>G (p.Ile281Val) rs887196115 0.00002
NM_018972.4(GDAP1):c.681T>A (p.Asn227Lys) rs762473236 0.00002
NM_021625.5(TRPV4):c.1824+5G>A rs755945349 0.00002
NM_021625.5(TRPV4):c.183C>T (p.Gly61=) rs773744592 0.00002
NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys) rs372583866 0.00002
NM_021625.5(TRPV4):c.2610G>A (p.Pro870=) rs548680957 0.00002
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala) rs146304351 0.00002
NM_021625.5(TRPV4):c.834G>A (p.Glu278=) rs529115496 0.00002
NM_024577.4(SH3TC2):c.1096A>G (p.Thr366Ala) rs772832716 0.00002
NM_024577.4(SH3TC2):c.1136-12A>G rs367677521 0.00002
NM_024577.4(SH3TC2):c.1254G>T (p.Gln418His) rs146997517 0.00002
NM_024577.4(SH3TC2):c.1349C>T (p.Pro450Leu) rs759614174 0.00002
NM_024577.4(SH3TC2):c.3616G>A (p.Ala1206Thr) rs148831039 0.00002
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp) rs758669363 0.00002
NM_024577.4(SH3TC2):c.543C>T (p.Cys181=) rs371302639 0.00002
NM_030962.4(SBF2):c.1368G>A (p.Arg456=) rs772525525 0.00002
NM_030962.4(SBF2):c.3109C>T (p.Arg1037Cys) rs770723203 0.00002
NM_030962.4(SBF2):c.5007G>A (p.Val1669=) rs918725972 0.00002
NM_030962.4(SBF2):c.5410A>G (p.Met1804Val) rs755264093 0.00002
NM_030973.4(MED25):c.125C>T (p.Pro42Leu) rs779085896 0.00002
NM_030973.4(MED25):c.2146+6G>A rs756773643 0.00002
NM_030973.4(MED25):c.557G>A (p.Arg186Gln) rs1376475717 0.00002
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) rs121912493 0.00002
NM_170707.4(LMNA):c.1857T>C (p.Ser619=) rs368581237 0.00002
NM_170707.4(LMNA):c.579T>C (p.Ala193=) rs749728556 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 0.00002
NM_170707.4(LMNA):c.810+12C>T rs746914371 0.00002
NM_181882.3(PRX):c.10A>G (p.Arg4Gly) rs760534109 0.00002
NM_181882.3(PRX):c.1585A>G (p.Lys529Glu) rs767098112 0.00002
NM_181882.3(PRX):c.1950C>T (p.Pro650=) rs761824931 0.00002
NM_181882.3(PRX):c.2908C>T (p.Arg970Trp) rs369224308 0.00002
NM_181882.3(PRX):c.2999C>T (p.Ala1000Val) rs765924621 0.00002
NM_181882.3(PRX):c.336G>A (p.Val112=) rs369268369 0.00002
NM_181882.3(PRX):c.3423G>A (p.Ala1141=) rs370800046 0.00002
NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter) rs559968504 0.00002
NM_181882.3(PRX):c.4138C>T (p.Arg1380Cys) rs771840476 0.00002
NM_181882.3(PRX):c.502C>T (p.Arg168Trp) rs374193988 0.00002
NM_000166.6(GJB1):c.261A>G (p.Pro87=) rs376994837 0.00001
NM_000166.6(GJB1):c.462T>C (p.Tyr154=) rs879254098 0.00001
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) rs587777879 0.00001
NM_000166.6(GJB1):c.807C>T (p.Thr269=) rs750620543 0.00001
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663 0.00001
NM_000304.4(PMP22):c.354G>T (p.Thr118=) rs776275784 0.00001
NM_000304.4(PMP22):c.397G>A (p.Gly133Ser) rs140763467 0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070 0.00001
NM_000371.4(TTR):c.337-13T>C rs762691667 0.00001
NM_000371.4(TTR):c.75C>T (p.Thr25=) rs750051388 0.00001
NM_000399.5(EGR2):c.1242G>A (p.Lys414=) rs554456422 0.00001
NM_000399.5(EGR2):c.774G>A (p.Val258=) rs758709729 0.00001
NM_000399.5(EGR2):c.789T>C (p.Thr263=) rs765678040 0.00001
NM_000530.8(MPZ):c.*1C>T rs751066172 0.00001
NM_000530.8(MPZ):c.174C>T (p.Val58=) rs753575261 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589 0.00001
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627 0.00001
NM_000530.8(MPZ):c.531C>T (p.Tyr177=) rs779159258 0.00001
NM_001005373.4(LRSAM1):c.1160-7C>T rs377144291 0.00001
NM_001005373.4(LRSAM1):c.1198C>T (p.Arg400Trp) rs749575647 0.00001
NM_001005373.4(LRSAM1):c.1619G>T (p.Ser540Ile) rs1400819662 0.00001
NM_001005373.4(LRSAM1):c.1815del (p.Asp607fs) rs747130246 0.00001
NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs) rs1315010600 0.00001
NM_001005373.4(LRSAM1):c.330C>T (p.Asn110=) rs374848673 0.00001
NM_001005373.4(LRSAM1):c.362G>A (p.Arg121His) rs143910539 0.00001
NM_001005373.4(LRSAM1):c.604C>G (p.Gln202Glu) rs746274685 0.00001
NM_001005373.4(LRSAM1):c.846C>G (p.Thr282=) rs548270854 0.00001
NM_001136472.2(LITAF):c.269G>A (p.Arg90His) rs200789696 0.00001
NM_001136472.2(LITAF):c.377+3G>A rs202181952 0.00001
NM_001365951.3(KIF1B):c.1435-9C>T rs200798756 0.00001
NM_001365951.3(KIF1B):c.2537+15A>G rs757030966 0.00001
NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met) rs141942131 0.00001
NM_001365951.3(KIF1B):c.3140C>T (p.Ser1047Leu) rs267597898 0.00001
NM_001365951.3(KIF1B):c.4256G>A (p.Arg1419His) rs567728453 0.00001
NM_001365951.3(KIF1B):c.4844T>C (p.Ile1615Thr) rs376471111 0.00001
NM_001365951.3(KIF1B):c.4966C>T (p.Arg1656Trp) rs758454220 0.00001
NM_001365951.3(KIF1B):c.5097-11G>T rs765592840 0.00001
NM_001365951.3(KIF1B):c.5332C>G (p.Leu1778Val) rs866755197 0.00001
NM_001365951.3(KIF1B):c.5409-16C>T rs781661292 0.00001
NM_001365951.3(KIF1B):c.609-10G>A rs1648575016 0.00001
NM_001365951.3(KIF1B):c.65A>G (p.Lys22Arg) rs762280202 0.00001
NM_001370298.3(FGD4):c.1102-5T>A rs1459339879 0.00001
NM_001370298.3(FGD4):c.1248-13A>G rs551481786 0.00001
NM_001370298.3(FGD4):c.1502G>C (p.Arg501Thr) rs755934741 0.00001
NM_001370298.3(FGD4):c.1602+7G>A rs369751598 0.00001
NM_001370298.3(FGD4):c.2041G>A (p.Val681Ile) rs753988910 0.00001
NM_001370298.3(FGD4):c.2631A>G (p.Thr877=) rs142377910 0.00001
NM_001370298.3(FGD4):c.612C>T (p.Leu204=) rs141920723 0.00001
NM_001370298.3(FGD4):c.674G>A (p.Cys225Tyr) rs201660852 0.00001
NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val) rs1595626695 0.00001
NM_001376.5(DYNC1H1):c.10754+10C>T rs186169554 0.00001
NM_001376.5(DYNC1H1):c.10995G>A (p.Gly3665=) rs572991122 0.00001
NM_001376.5(DYNC1H1):c.11803G>A (p.Val3935Met) rs770188348 0.00001
NM_001376.5(DYNC1H1):c.12250A>G (p.Ile4084Val) rs992393537 0.00001
NM_001376.5(DYNC1H1):c.12276-17T>C rs758737122 0.00001
NM_001376.5(DYNC1H1):c.123G>A (p.Leu41=) rs1260546515 0.00001
NM_001376.5(DYNC1H1):c.13372+14C>T rs537023632 0.00001
NM_001376.5(DYNC1H1):c.4074+11A>T rs368040742 0.00001
NM_001376.5(DYNC1H1):c.4264G>A (p.Val1422Ile) rs760230019 0.00001
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=) rs533327200 0.00001
NM_001376.5(DYNC1H1):c.438C>T (p.Tyr146=) rs764884119 0.00001
NM_001376.5(DYNC1H1):c.6619-19G>A rs747037096 0.00001
NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp) rs376901405 0.00001
NM_001376.5(DYNC1H1):c.8262C>T (p.Ala2754=) rs758178917 0.00001
NM_001376.5(DYNC1H1):c.8631G>A (p.Leu2877=) rs1169712846 0.00001
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088 0.00001
NM_001540.5(HSPB1):c.349G>A (p.Val117Met) rs1803031652 0.00001
NM_001540.5(HSPB1):c.567C>T (p.Ala189=) rs528301561 0.00001
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs) rs771457306 0.00001
NM_001605.3(AARS1):c.1388T>C (p.Ile463Thr) rs1597439359 0.00001
NM_001605.3(AARS1):c.1823C>T (p.Thr608Met) rs1597435885 0.00001
NM_001605.3(AARS1):c.72G>A (p.Thr24=) rs780609058 0.00001
NM_001605.3(AARS1):c.783C>G (p.Asp261Glu) rs1374950172 0.00001
NM_002047.4(GARS1):c.-14A>G rs1404831052 0.00001
NM_002047.4(GARS1):c.129G>T (p.Pro43=) rs1326074084 0.00001
NM_002047.4(GARS1):c.1429A>G (p.Lys477Glu) rs1287718221 0.00001
NM_002047.4(GARS1):c.1809+13G>A rs1183436159 0.00001
NM_002047.4(GARS1):c.1809+16C>T rs752229312 0.00001
NM_002180.3(IGHMBP2):c.1111G>A (p.Val371Met) rs770912338 0.00001
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541 0.00001
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys) rs751549678 0.00001
NM_002180.3(IGHMBP2):c.1479C>T (p.Thr493=) rs370367228 0.00001
NM_002180.3(IGHMBP2):c.1537+9G>C rs1859419581 0.00001
NM_002180.3(IGHMBP2):c.1547G>A (p.Arg516His) rs373017768 0.00001
NM_002180.3(IGHMBP2):c.1596C>T (p.Ala532=) rs988590959 0.00001
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750 0.00001
NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln) rs774522176 0.00001
NM_002180.3(IGHMBP2):c.212G>T (p.Arg71Leu) rs766757770 0.00001
NM_002180.3(IGHMBP2):c.2499G>A (p.Leu833=) rs371840404 0.00001
NM_002180.3(IGHMBP2):c.2931G>C (p.Leu977=) rs768924538 0.00001
NM_002180.3(IGHMBP2):c.381C>G (p.Ser127Arg) rs775782198 0.00001
NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val) rs780802298 0.00001
NM_002180.3(IGHMBP2):c.877G>A (p.Val293Ile) rs761171176 0.00001
NM_002180.3(IGHMBP2):c.925A>G (p.Lys309Glu) rs200079527 0.00001
NM_004637.6(RAB7A):c.21G>A (p.Val7=) rs140857794 0.00001
NM_004637.6(RAB7A):c.321C>T (p.Leu107=) rs749227632 0.00001
NM_004990.4(MARS1):c.1073C>G (p.Thr358Ser) rs746654999 0.00001
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu) rs140467171 0.00001
NM_004990.4(MARS1):c.1241G>A (p.Arg414Gln) rs1280661109 0.00001
NM_004990.4(MARS1):c.1316G>A (p.Arg439Gln) rs778662742 0.00001
NM_004990.4(MARS1):c.1368+15C>T rs371511467 0.00001
NM_004990.4(MARS1):c.1368+3A>T rs1205318968 0.00001
NM_004990.4(MARS1):c.1430A>G (p.Asn477Ser) rs778085997 0.00001
NM_004990.4(MARS1):c.1731G>A (p.Leu577=) rs773313017 0.00001
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) rs587777718 0.00001
NM_004990.4(MARS1):c.2609C>T (p.Ala870Val) rs969642249 0.00001
NM_004990.4(MARS1):c.414+8G>A rs371003913 0.00001
NM_005391.5(PDK3):c.249-14T>G rs766469321 0.00001
NM_006096.4(NDRG1):c.389+13G>C rs537705365 0.00001
NM_006096.4(NDRG1):c.488T>C (p.Ile163Thr) rs748782766 0.00001
NM_006096.4(NDRG1):c.637C>A (p.Gln213Lys) rs1213776109 0.00001
NM_006096.4(NDRG1):c.699-16C>G rs567104964 0.00001
NM_006096.4(NDRG1):c.706G>A (p.Asp236Asn) rs1337832950 0.00001
NM_006096.4(NDRG1):c.766C>T (p.Leu256=) rs898573925 0.00001
NM_006158.5(NEFL):c.1006C>G (p.Leu336Val) rs551896980 0.00001
NM_006158.5(NEFL):c.235A>G (p.Ile79Val) rs765260132 0.00001
NM_006158.5(NEFL):c.612C>T (p.Leu204=) rs370031604 0.00001
NM_006158.5(NEFL):c.637A>G (p.Ile213Val) rs538481538 0.00001
NM_006158.5(NEFL):c.967C>T (p.Arg323Trp) rs764562926 0.00001
NM_006415.4(SPTLC1):c.1043C>T (p.Ala348Val) rs776063730 0.00001
NM_006415.4(SPTLC1):c.1254+8del rs771209816 0.00001
NM_006415.4(SPTLC1):c.1259T>C (p.Met420Thr) rs376427329 0.00001
NM_006415.4(SPTLC1):c.1385C>A (p.Ser462Tyr) rs150792865 0.00001
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) rs119482083 0.00001
NM_006415.4(SPTLC1):c.58-19G>C rs376799813 0.00001
NM_006415.4(SPTLC1):c.876C>G (p.His292Gln) rs771021842 0.00001
NM_006415.4(SPTLC1):c.985C>T (p.Arg329Ter) rs1215612827 0.00001
NM_006736.6(DNAJB2):c.249A>G (p.Ala83=) rs576058376 0.00001
NM_006736.6(DNAJB2):c.446-17C>G rs760786001 0.00001
NM_014845.6(FIG4):c.1122C>G (p.Ile374Met) rs1376239309 0.00001
NM_014845.6(FIG4):c.1334G>A (p.Gly445Asp) rs1255518113 0.00001
NM_014845.6(FIG4):c.1750+11A>C rs766372971 0.00001
NM_014845.6(FIG4):c.1949-10T>G rs896444437 0.00001
NM_014845.6(FIG4):c.202G>A (p.Gly68Ser) rs745860370 0.00001
NM_014845.6(FIG4):c.2319T>C (p.Ser773=) rs745397940 0.00001
NM_014845.6(FIG4):c.252G>A (p.Ser84=) rs532895784 0.00001
NM_014845.6(FIG4):c.300G>A (p.Arg100=) rs368831195 0.00001
NM_014845.6(FIG4):c.66+18G>A rs1381893795 0.00001
NM_014874.4(MFN2):c.1118G>A (p.Arg373Gln) rs142042485 0.00001
NM_014874.4(MFN2):c.1488C>A (p.Asp496Glu) rs746806455 0.00001
NM_014874.4(MFN2):c.1717-12T>G rs757942090 0.00001
NM_014874.4(MFN2):c.1717-15T>C rs752294693 0.00001
NM_014874.4(MFN2):c.1806C>T (p.Ser602=) rs201258935 0.00001
NM_014874.4(MFN2):c.1815C>T (p.Thr605=) rs751029047 0.00001
NM_014874.4(MFN2):c.946A>G (p.Lys316Glu) rs1424551887 0.00001
NM_016156.6(MTMR2):c.1770+3A>G rs756909627 0.00001
NM_016156.6(MTMR2):c.240A>C (p.Pro80=) rs201920176 0.00001
NM_016156.6(MTMR2):c.654+5G>A rs1398525959 0.00001
NM_018972.4(GDAP1):c.123C>T (p.Arg41=) rs1395874165 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_021625.5(TRPV4):c.-16C>T rs762801533 0.00001
NM_021625.5(TRPV4):c.1174C>T (p.Arg392Trp) rs759501013 0.00001
NM_021625.5(TRPV4):c.145C>A (p.Pro49Thr) rs546287338 0.00001
NM_021625.5(TRPV4):c.1700A>T (p.Tyr567Phe) rs763889344 0.00001
NM_021625.5(TRPV4):c.1701C>A (p.Tyr567Ter) rs515726156 0.00001
NM_021625.5(TRPV4):c.1824+14G>A rs1019790413 0.00001
NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn) rs770149544 0.00001
NM_021625.5(TRPV4):c.1977G>A (p.Ser659=) rs1889847260 0.00001
NM_021625.5(TRPV4):c.2042G>A (p.Gly681Asp) rs766420746 0.00001
NM_021625.5(TRPV4):c.2092C>T (p.Leu698=) rs774321681 0.00001
NM_021625.5(TRPV4):c.20G>A (p.Gly7Asp) rs1213728059 0.00001
NM_021625.5(TRPV4):c.2157C>T (p.Gly719=) rs150719390 0.00001
NM_021625.5(TRPV4):c.2336+1G>A rs771778984 0.00001
NM_021625.5(TRPV4):c.2447G>A (p.Arg816His) rs1431224527 0.00001
NM_021625.5(TRPV4):c.2507C>T (p.Ser836Leu) rs768620169 0.00001
NM_021625.5(TRPV4):c.2615A>G (p.Ter872Trp) rs1235218303 0.00001
NM_021625.5(TRPV4):c.395C>T (p.Pro132Leu) rs779371027 0.00001
NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu) rs1193945019 0.00001
NM_021625.5(TRPV4):c.50A>G (p.Glu17Gly) rs989621170 0.00001
NM_021625.5(TRPV4):c.615C>A (p.Gly205=) rs377729962 0.00001
NM_024577.4(SH3TC2):c.1002-5T>A rs769711653 0.00001
NM_024577.4(SH3TC2):c.1002-8C>T rs748766254 0.00001
NM_024577.4(SH3TC2):c.1322T>C (p.Leu441Pro) rs1172985848 0.00001
NM_024577.4(SH3TC2):c.1436A>G (p.Tyr479Cys) rs757167683 0.00001
NM_024577.4(SH3TC2):c.1651T>C (p.Phe551Leu) rs1554121720 0.00001
NM_024577.4(SH3TC2):c.2140G>C (p.Val714Leu) rs1303051798 0.00001
NM_024577.4(SH3TC2):c.214G>A (p.Glu72Lys) rs779075488 0.00001
NM_024577.4(SH3TC2):c.2317C>T (p.Pro773Ser) rs1416387782 0.00001
NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val) rs1463859150 0.00001
NM_024577.4(SH3TC2):c.2535A>C (p.Ala845=) rs1406112399 0.00001
NM_024577.4(SH3TC2):c.2581C>T (p.Arg861Trp) rs147490172 0.00001
NM_024577.4(SH3TC2):c.279+4A>G rs371909418 0.00001
NM_024577.4(SH3TC2):c.280-4G>A rs747321591 0.00001
NM_024577.4(SH3TC2):c.2818C>A (p.Leu940Ile) rs1380115510 0.00001
NM_024577.4(SH3TC2):c.2873-16C>T rs1387099711 0.00001
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro) rs537759361 0.00001
NM_024577.4(SH3TC2):c.3296G>A (p.Arg1099His) rs748413646 0.00001
NM_024577.4(SH3TC2):c.3332G>T (p.Gly1111Val) rs200801053 0.00001
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462 0.00001
NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=) rs762263591 0.00001
NM_024577.4(SH3TC2):c.3531C>T (p.Tyr1177=) rs747405272 0.00001
NM_024577.4(SH3TC2):c.3723G>A (p.Ala1241=) rs777895612 0.00001
NM_024577.4(SH3TC2):c.3818G>A (p.Cys1273Tyr) rs781625125 0.00001
NM_024577.4(SH3TC2):c.559G>A (p.Val187Met) rs745613768 0.00001
NM_024577.4(SH3TC2):c.830C>T (p.Thr277Met) rs757969875 0.00001
NM_024577.4(SH3TC2):c.945A>G (p.Ser315=) rs144520038 0.00001
NM_030962.4(SBF2):c.1124A>G (p.Gln375Arg) rs770153492 0.00001
NM_030962.4(SBF2):c.1244G>T (p.Gly415Val) rs996602317 0.00001
NM_030962.4(SBF2):c.1297-13T>C rs777737213 0.00001
NM_030962.4(SBF2):c.1563A>G (p.Ile521Met) rs770392081 0.00001
NM_030962.4(SBF2):c.1854T>G (p.Thr618=) rs1224103000 0.00001
NM_030962.4(SBF2):c.2619T>C (p.Ile873=) rs1168090388 0.00001
NM_030962.4(SBF2):c.3316A>G (p.Met1106Val) rs753427715 0.00001
NM_030962.4(SBF2):c.3386G>C (p.Ser1129Thr) rs187674701 0.00001
NM_030962.4(SBF2):c.3518G>A (p.Arg1173His) rs757577170 0.00001
NM_030962.4(SBF2):c.3668T>C (p.Leu1223Ser) rs760210827 0.00001
NM_030962.4(SBF2):c.3887C>T (p.Ser1296Leu) rs767811228 0.00001
NM_030962.4(SBF2):c.4459C>T (p.Pro1487Ser) rs1590103742 0.00001
NM_030962.4(SBF2):c.4758G>A (p.Glu1586=) rs770533275 0.00001
NM_030962.4(SBF2):c.4981C>G (p.Gln1661Glu) rs1337750415 0.00001
NM_030962.4(SBF2):c.5483G>A (p.Cys1828Tyr) rs146064484 0.00001
NM_030962.4(SBF2):c.703A>G (p.Ser235Gly) rs1441387053 0.00001
NM_030962.4(SBF2):c.78A>G (p.Lys26=) rs781552767 0.00001
NM_030962.4(SBF2):c.808A>G (p.Thr270Ala) rs1194829190 0.00001
NM_030962.4(SBF2):c.87G>C (p.Gln29His) rs751336040 0.00001
NM_030962.4(SBF2):c.913T>C (p.Cys305Arg) rs758820956 0.00001
NM_030973.4(MED25):c.1044C>T (p.Ser348=) rs1292829714 0.00001
NM_030973.4(MED25):c.134+19A>G rs764885639 0.00001
NM_030973.4(MED25):c.1675-18C>T rs2074089100 0.00001
NM_030973.4(MED25):c.2192C>T (p.Pro731Leu) rs765135124 0.00001
NM_030973.4(MED25):c.413C>T (p.Thr138Met) rs200785685 0.00001
NM_030973.4(MED25):c.556C>T (p.Arg186Trp) rs776291104 0.00001
NM_030973.4(MED25):c.751G>A (p.Ala251Thr) rs775622130 0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223 0.00001
NM_170707.4(LMNA):c.1092C>T (p.Asp364=) rs776589077 0.00001
NM_170707.4(LMNA):c.1157+15C>T rs761166147 0.00001
NM_170707.4(LMNA):c.1157+19G>A rs757715731 0.00001
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys) rs58672172 0.00001
NM_170707.4(LMNA):c.12G>A (p.Pro4=) rs369823958 0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924 0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_170707.4(LMNA):c.1488+8G>A rs762836610 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_170707.4(LMNA):c.1699-8C>G rs727503137 0.00001
NM_170707.4(LMNA):c.1961G>A (p.Arg654Gln) rs768986279 0.00001
NM_170707.4(LMNA):c.1969-4T>C rs751715969 0.00001
NM_170707.4(LMNA):c.571G>A (p.Val191Met) rs879253896 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_181882.3(PRX):c.1113A>G (p.Glu371=) rs137930942 0.00001
NM_181882.3(PRX):c.1136A>C (p.Lys379Thr) rs752783967 0.00001
NM_181882.3(PRX):c.1206G>T (p.Glu402Asp) rs746394555 0.00001
NM_181882.3(PRX):c.1333C>G (p.Pro445Ala) rs201044009 0.00001
NM_181882.3(PRX):c.1468C>T (p.Arg490Trp) rs760423138 0.00001
NM_181882.3(PRX):c.1490C>T (p.Pro497Leu) rs1167411868 0.00001
NM_181882.3(PRX):c.1684G>A (p.Val562Met) rs1234205162 0.00001
NM_181882.3(PRX):c.1797A>T (p.Lys599Asn) rs757931043 0.00001
NM_181882.3(PRX):c.182A>G (p.Glu61Gly) rs779928693 0.00001
NM_181882.3(PRX):c.1834G>A (p.Ala612Thr) rs2079438994 0.00001
NM_181882.3(PRX):c.2173C>T (p.Pro725Ser) rs1387072587 0.00001
NM_181882.3(PRX):c.2245A>C (p.Lys749Gln) rs755014286 0.00001
NM_181882.3(PRX):c.2252C>T (p.Ser751Leu) rs570569581 0.00001
NM_181882.3(PRX):c.2307G>A (p.Pro769=) rs148655811 0.00001
NM_181882.3(PRX):c.2T>C (p.Met1Thr) rs1352237419 0.00001
NM_181882.3(PRX):c.3060G>T (p.Arg1020Ser) rs761267361 0.00001
NM_181882.3(PRX):c.3241G>A (p.Ala1081Thr) rs773246710 0.00001
NM_181882.3(PRX):c.3901G>A (p.Gly1301Arg) rs749251511 0.00001
NM_181882.3(PRX):c.3928C>T (p.Arg1310Trp) rs751126995 0.00001
NM_181882.3(PRX):c.4180G>A (p.Glu1394Lys) rs1486029743 0.00001
NM_181882.3(PRX):c.4335_4336del (p.Ala1447fs) rs778270475 0.00001
NM_181882.3(PRX):c.556C>T (p.Arg186Trp) rs539484549 0.00001
NM_181882.3(PRX):c.617G>A (p.Arg206Gln) rs765911262 0.00001
NM_181882.3(PRX):c.944G>A (p.Arg315Gln) rs577197549 0.00001
NM_000166.6(GJB1):c.*18C>G rs2092547149
NM_000166.6(GJB1):c.109G>C (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.381C>G (p.Ile127Met) rs1602349264
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.501G>T (p.Lys167Asn) rs766201464
NM_000166.6(GJB1):c.573C>T (p.Thr191=) rs776040132
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.72G>C (p.Trp24Cys) rs1602348658
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) rs1602348662
NM_000166.6(GJB1):c.8G>C (p.Trp3Ser) rs1555936989
NM_000304.4(PMP22):c.170C>G (p.Ser57Ter) rs1909079392
NM_000304.4(PMP22):c.179-2A>G rs1597608225
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) rs104894623
NM_000304.4(PMP22):c.238CTGTTC[1] (p.80LF[1]) rs1907117054
NM_000304.4(PMP22):c.255C>A (p.Cys85Ter) rs755701957
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.284G>A (p.Arg95Lys) rs1555565234
NM_000304.4(PMP22):c.299G>T (p.Gly100Val) rs1597607638
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter) rs863225028
NM_000304.4(PMP22):c.366G>A (p.Pro122=) rs372723732
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys) rs1597597627
NM_000304.4(PMP22):c.420G>A (p.Trp140Ter) rs1597597527
NM_000304.4(PMP22):c.433del (p.Leu145fs) rs1567698872
NM_000304.4(PMP22):c.467T>C (p.Leu156Ser) rs1906257962
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000371.4(TTR):c.11A>T (p.His4Leu) rs1157253322
NM_000371.4(TTR):c.148G>C (p.Val50Leu) rs28933979
NM_000371.4(TTR):c.201-3T>C rs2073510064
NM_000371.4(TTR):c.252T>G (p.Phe84Leu) rs2073510805
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) rs121918071
NM_000371.4(TTR):c.70-19G>A rs548935944
NM_000371.4(TTR):c.70-7C>T rs587780990
NM_000399.5(EGR2):c.1183G>C (p.Glu395Gln) rs1842165681
NM_000399.5(EGR2):c.1352G>A (p.Gly451Asp) rs138967272
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000399.5(EGR2):c.210G>A (p.Ser70=) rs776156156
NM_000399.5(EGR2):c.222A>C (p.Pro74=) rs201068734
NM_000399.5(EGR2):c.645G>A (p.Thr215=) rs781408172
NM_000399.5(EGR2):c.816C>A (p.Thr272=) rs863224359
NM_000399.5(EGR2):c.843C>T (p.Thr281=) rs375890313
NM_000399.5(EGR2):c.897AGC[6] (p.Ala309dup) rs746688326
NM_000399.5(EGR2):c.938A>G (p.His313Arg) rs772972643
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) rs121913596
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.149G>C (p.Cys50Ser) rs876661287
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe) rs121913585
NM_000530.8(MPZ):c.200_201del (p.Arg67fs) rs1670284480
NM_000530.8(MPZ):c.208C>A (p.Pro70Thr) rs1571819890
NM_000530.8(MPZ):c.227C>T (p.Ala76Val) rs1170786711
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys) rs1383238492
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) rs1571819182
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter) rs1558154149
NM_000530.8(MPZ):c.314C>T (p.Pro105Leu) rs786204215
NM_000530.8(MPZ):c.319T>A (p.Trp107Arg) rs920464920
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe) rs1553259663
NM_000530.8(MPZ):c.346A>T (p.Asn116Tyr) rs267607242
NM_000530.8(MPZ):c.42G>A (p.Leu14=) rs1670359930
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys) rs121913603
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter) rs1571818632
NM_000530.8(MPZ):c.448+2T>G rs1670257221
NM_000530.8(MPZ):c.549G>A (p.Trp183Ter) rs1670244293
NM_000530.8(MPZ):c.569T>C (p.Leu190Pro) rs1670242746
NM_000530.8(MPZ):c.592G>C (p.Glu198Gln) rs770994564
NM_000530.8(MPZ):c.612G>C (p.Lys204Asn) rs1670234637
NM_000530.8(MPZ):c.645+10A>G rs1670232533
NM_000530.8(MPZ):c.659A>G (p.Tyr220Cys) rs767339597
NM_000530.8(MPZ):c.68-3C>A rs1182729605
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.704A>G (p.Lys235Arg) rs1670224859
NM_001005373.4(LRSAM1):c.1016dup (p.Gln340fs) rs1835476174
NM_001005373.4(LRSAM1):c.1026_1027delinsTT (p.Leu342_Leu343=) rs1554757292
NM_001005373.4(LRSAM1):c.1044-20T>C rs1835521444
NM_001005373.4(LRSAM1):c.1083T>C (p.Asn361=) rs1835524969
NM_001005373.4(LRSAM1):c.1261A>G (p.Met421Val) rs1835780785
NM_001005373.4(LRSAM1):c.1351G>A (p.Ala451Thr) rs202166023
NM_001005373.4(LRSAM1):c.1419C>A (p.Ser473Arg) rs1345645228
NM_001005373.4(LRSAM1):c.1422+42_1422+43del rs3053015
NM_001005373.4(LRSAM1):c.1440T>G (p.Thr480=) rs756804646
NM_001005373.4(LRSAM1):c.1518G>A (p.Glu506=) rs199703262
NM_001005373.4(LRSAM1):c.1573C>A (p.Arg525=) rs1442123730
NM_001005373.4(LRSAM1):c.1581A>G (p.Glu527=) rs1835985595
NM_001005373.4(LRSAM1):c.175-18G>T rs752028583
NM_001005373.4(LRSAM1):c.1753C>G (p.His585Asp) rs1183629673
NM_001005373.4(LRSAM1):c.1936G>T (p.Val646Phe) rs748358043
NM_001005373.4(LRSAM1):c.2008del (p.Val670fs) rs1836372698
NM_001005373.4(LRSAM1):c.2028C>G (p.Val676=) rs566890772
NM_001005373.4(LRSAM1):c.2087G>A (p.Cys696Tyr) rs1588144651
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu) rs797044913
NM_001005373.4(LRSAM1):c.253-9C>A rs199925705
NM_001005373.4(LRSAM1):c.51C>T (p.Arg17=) rs1834446417
NM_001005373.4(LRSAM1):c.528+15G>C rs758039190
NM_001005373.4(LRSAM1):c.750+2T>G rs76153575
NM_001005373.4(LRSAM1):c.904-2A>G rs1171946884
NM_001136472.2(LITAF):c.199C>T (p.Pro67Ser) rs2064271547
NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001136472.2(LITAF):c.412G>A (p.Val138Met) rs780788687
NM_001136472.2(LITAF):c.430G>A (p.Val144Met) rs121908615
NM_001365951.3(KIF1B):c.107-11T>G rs1647773753
NM_001365951.3(KIF1B):c.107-13T>C rs936173191
NM_001365951.3(KIF1B):c.1180+13A>G rs150049547
NM_001365951.3(KIF1B):c.1222+16_1222+17del rs35347635
NM_001365951.3(KIF1B):c.1427G>T (p.Arg476Leu) rs896518063
NM_001365951.3(KIF1B):c.1629G>T (p.Met543Ile) rs1650197606
NM_001365951.3(KIF1B):c.1671-4T>C rs1650224129
NM_001365951.3(KIF1B):c.183A>G (p.Ser61=) rs756935623
NM_001365951.3(KIF1B):c.184-6_184-5del rs138324955
NM_001365951.3(KIF1B):c.1945_1947del (p.Ser649del) rs766127664
NM_001365951.3(KIF1B):c.1958C>A (p.Pro653His) rs1650299804
NM_001365951.3(KIF1B):c.1968T>C (p.Pro656=) rs1332046524
NM_001365951.3(KIF1B):c.1983T>A (p.Phe661Leu) rs1650300630
NM_001365951.3(KIF1B):c.2043-10_2043-9del rs58344165
NM_001365951.3(KIF1B):c.2043-4C>T rs771419523
NM_001365951.3(KIF1B):c.2043-9del rs58344165
NM_001365951.3(KIF1B):c.2358+9C>T rs1651536955
NM_001365951.3(KIF1B):c.3229C>T (p.Pro1077Ser) rs1652211900
NM_001365951.3(KIF1B):c.3422+18T>C rs1652225664
NM_001365951.3(KIF1B):c.3688+7_3688+8dup rs1652467199
NM_001365951.3(KIF1B):c.3798-15G>A rs766283700
NM_001365951.3(KIF1B):c.3892A>G (p.Ile1298Val) rs529804940
NM_001365951.3(KIF1B):c.4305-17T>A rs1323362062
NM_001365951.3(KIF1B):c.4409C>T (p.Ala1470Val) rs868357926
NM_001365951.3(KIF1B):c.4947-13C>G rs1638826414
NM_001365951.3(KIF1B):c.5231T>C (p.Ile1744Thr) rs757828399
NM_001365951.3(KIF1B):c.606C>G (p.Ala202=) rs766873320
NM_001365951.3(KIF1B):c.710C>T (p.Ser237Phe) rs775958513
NM_001365951.3(KIF1B):c.959-16T>A rs1206994711
NM_001370298.3(FGD4):c.1248-16dup rs368420700
NM_001370298.3(FGD4):c.1609C>T (p.Leu537=) rs750265200
NM_001370298.3(FGD4):c.1824T>G (p.Val608=) rs1949688594
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr) rs144693221
NM_001370298.3(FGD4):c.846C>G (p.Asp282Glu) rs904582
NM_001370298.3(FGD4):c.846C>T (p.Asp282=) rs904582
NM_001376.5(DYNC1H1):c.10626+12G>A rs751897147
NM_001376.5(DYNC1H1):c.11112C>T (p.Thr3704=) rs2048607317
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) rs17512783
NM_001376.5(DYNC1H1):c.11646C>G (p.Thr3882=) rs530450786
NM_001376.5(DYNC1H1):c.12651T>G (p.Asp4217Glu) rs2048684224
NM_001376.5(DYNC1H1):c.1299G>A (p.Leu433=) rs1566997875
NM_001376.5(DYNC1H1):c.13218+18G>A rs745843852
NM_001376.5(DYNC1H1):c.13404G>T (p.Thr4468=) rs17541692
NM_001376.5(DYNC1H1):c.13516-18G>C rs2048778047
NM_001376.5(DYNC1H1):c.13609G>A (p.Glu4537Lys) rs2048779548
NM_001376.5(DYNC1H1):c.13869C>T (p.Asp4623=) rs2048794268
NM_001376.5(DYNC1H1):c.13899C>T (p.Arg4633=) rs2048795231
NM_001376.5(DYNC1H1):c.2541G>A (p.Val847=) rs1595601645
NM_001376.5(DYNC1H1):c.3015+18C>G rs2749894
NM_001376.5(DYNC1H1):c.3015+18C>T rs2749894
NM_001376.5(DYNC1H1):c.3378G>A (p.Glu1126=) rs2048042753
NM_001376.5(DYNC1H1):c.3844A>G (p.Ile1282Val) rs1567005557
NM_001376.5(DYNC1H1):c.4959C>A (p.His1653Gln) rs773425996
NM_001376.5(DYNC1H1):c.4963A>C (p.Lys1655Gln) rs2048175428
NM_001376.5(DYNC1H1):c.519-3dup rs2047841392
NM_001376.5(DYNC1H1):c.5580A>T (p.Gln1860His) rs1399321780
NM_001376.5(DYNC1H1):c.5668T>C (p.Leu1890=) rs2048193766
NM_001376.5(DYNC1H1):c.6222-20C>A rs200368499
NM_001376.5(DYNC1H1):c.6240C>G (p.Leu2080=) rs2048243538
NM_001376.5(DYNC1H1):c.702T>G (p.Asp234Glu) rs769311346
NM_001376.5(DYNC1H1):c.7135C>T (p.Leu2379=) rs2048305907
NM_001376.5(DYNC1H1):c.7179G>A (p.Glu2393=) rs759580840
NM_001376.5(DYNC1H1):c.7296G>C (p.Leu2432=) rs2048315206
NM_001376.5(DYNC1H1):c.7848+13G>A rs1451487950
NM_001376.5(DYNC1H1):c.8178-19C>T rs755564157
NM_001376.5(DYNC1H1):c.8343+9_8343+10del rs769162724
NM_001376.5(DYNC1H1):c.855A>G (p.Leu285=) rs2047850441
NM_001376.5(DYNC1H1):c.8638-7dup rs2048453799
NM_001376.5(DYNC1H1):c.8772-13C>T rs2048460576
NM_001376.5(DYNC1H1):c.9048+16G>A rs1287980587
NM_001376.5(DYNC1H1):c.9468+9A>G rs750452823
NM_001376.5(DYNC1H1):c.9471G>T (p.Ala3157=) rs151255069
NM_001376.5(DYNC1H1):c.962-15dup rs3830914
NM_001376.5(DYNC1H1):c.9636C>G (p.Val3212=) rs2295445
NM_001540.5(HSPB1):c.*20A>C rs775953415
NM_001540.5(HSPB1):c.-5C>T rs948469224
NM_001540.5(HSPB1):c.110G>C (p.Arg37Pro) rs372197630
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.153G>A (p.Trp51Ter) rs769118115
NM_001540.5(HSPB1):c.235C>T (p.Arg79Trp) rs556995718
NM_001540.5(HSPB1):c.364+6C>G rs753061670
NM_001540.5(HSPB1):c.364+9_364+20del rs1803032779
NM_001540.5(HSPB1):c.365-5dup rs759570569
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_001540.5(HSPB1):c.368A>C (p.Lys123Thr) rs1455898327
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) rs121909112
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) rs28937568
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001605.3(AARS1):c.1222G>A (p.Gly408Arg) rs369135192
NM_001605.3(AARS1):c.1409T>A (p.Ile470Asn) rs1567605658
NM_001605.3(AARS1):c.1429G>A (p.Gly477Ser) rs1228135551
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_002047.4(GARS1):c.1426A>T (p.Thr476Ser) rs1783005436
NM_002047.4(GARS1):c.1614-4G>C rs376324026
NM_002047.4(GARS1):c.1644A>G (p.Thr548=) rs1783125064
NM_002047.4(GARS1):c.1809+8G>C rs766137918
NM_002047.4(GARS1):c.1904-19C>T rs1204535363
NM_002047.4(GARS1):c.2206A>C (p.Thr736Pro) rs1785775131
NM_002047.4(GARS1):c.881+17G>A rs1791560409
NM_002180.3(IGHMBP2):c.1061-1G>C rs1859177429
NM_002180.3(IGHMBP2):c.1448A>T (p.Glu483Val) rs1859413172
NM_002180.3(IGHMBP2):c.1538-11_1538-8del rs1566444289
NM_002180.3(IGHMBP2):c.1538-20C>T rs147148090
NM_002180.3(IGHMBP2):c.1807C>G (p.Arg603Gly) rs1465803265
NM_002180.3(IGHMBP2):c.191T>C (p.Leu64Pro) rs1858185704
NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His) rs1413846126
NM_002180.3(IGHMBP2):c.2070C>G (p.Ala690=) rs1859536554
NM_002180.3(IGHMBP2):c.2295C>T (p.His765=) rs149185954
NM_002180.3(IGHMBP2):c.2492G>C (p.Arg831Thr) rs1859566434
NM_002180.3(IGHMBP2):c.2532G>T (p.Ala844=) rs2228207
NM_002180.3(IGHMBP2):c.2544C>T (p.Pro848=) rs746248057
NM_002180.3(IGHMBP2):c.2548A>G (p.Ser850Gly) rs763406969
NM_002180.3(IGHMBP2):c.2612-3C>T rs1859624455
NM_002180.3(IGHMBP2):c.2687C>T (p.Thr896Ile) rs1594458412
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002180.3(IGHMBP2):c.338C>T (p.Ser113Leu) rs147001168
NM_002180.3(IGHMBP2):c.36G>T (p.Lys12Asn) rs1858067155
NM_002180.3(IGHMBP2):c.406C>T (p.Leu136=) rs1858284168
NM_002180.3(IGHMBP2):c.450-13T>C rs1015873972
NM_002180.3(IGHMBP2):c.455T>C (p.Leu152Pro) rs1858294034
NM_002180.3(IGHMBP2):c.4G>A (p.Ala2Thr) rs778232785
NM_002180.3(IGHMBP2):c.726C>G (p.Ala242=) rs76690064
NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg) rs1858584931
NM_002180.3(IGHMBP2):c.86+7G>C rs527948004
NM_004208.4(AIFM1):c.*20C>A rs753119555
NM_004208.4(AIFM1):c.273_274inv (p.Glu92Lys)
NM_004208.4(AIFM1):c.513G>A (p.Met171Ile) rs2030801103
NM_004208.4(AIFM1):c.602G>A (p.Arg201Lys) rs886703882
NM_004637.6(RAB7A):c.331A>G (p.Ser111Gly) rs1933806198
NM_004637.6(RAB7A):c.400-17C>G rs762146227
NM_004637.6(RAB7A):c.529-11T>G rs1363669325
NM_004990.4(MARS1):c.1189G>A (p.Ala397Thr) rs1594821331
NM_004990.4(MARS1):c.1234G>A (p.Glu412Lys) rs1876868867
NM_004990.4(MARS1):c.1294-5C>T rs149946100
NM_004990.4(MARS1):c.1427C>A (p.Pro476His) rs752787612
NM_004990.4(MARS1):c.2112C>T (p.Ala704=) rs530730589
NM_004990.4(MARS1):c.2392-8T>A rs754886014
NM_004990.4(MARS1):c.2557-12C>G rs189933911
NM_004990.4(MARS1):c.2557-13C>A rs781643044
NM_004990.4(MARS1):c.2557-13C>G rs781643044
NM_004990.4(MARS1):c.2605G>C (p.Val869Leu) rs1877841043
NM_004990.4(MARS1):c.873C>T (p.Ala291=) rs79531790
NM_004990.4(MARS1):c.887+17G>A rs201259473
NM_004990.4(MARS1):c.887+17G>C rs201259473
NM_004990.4(MARS1):c.986C>T (p.Pro329Leu) rs145260922
NM_005391.5(PDK3):c.1077+4C>T rs1922654884
NM_005391.5(PDK3):c.1115_1116delinsAG (p.Phe372Ter) rs1922715641
NM_005391.5(PDK3):c.249-9del rs374771377
NM_005391.5(PDK3):c.249-9dup rs374771377
NM_005391.5(PDK3):c.467C>T (p.Thr156Ile) rs1602114620
NM_006096.4(NDRG1):c.1053_1082del (p.340TRSRSHTSEG[2]) rs751274009
NM_006096.4(NDRG1):c.1081C>G (p.Arg361Gly) rs779065972
NM_006096.4(NDRG1):c.1109C>G (p.Ala370Gly) rs367925853
NM_006096.4(NDRG1):c.1109C>T (p.Ala370Val) rs367925853
NM_006096.4(NDRG1):c.12G>T (p.Glu4Asp) rs1286565668
NM_006096.4(NDRG1):c.206-17T>G rs1856694633
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser) rs150796527
NM_006096.4(NDRG1):c.681dup (p.Ile228fs) rs879254290
NM_006096.4(NDRG1):c.756-13T>C rs1855783791
NM_006096.4(NDRG1):c.756-5_756-4delinsTG rs1855782584
NM_006096.4(NDRG1):c.856-9C>T rs772996128
NM_006096.4(NDRG1):c.892-11G>A rs1855418193
NM_006096.4(NDRG1):c.895G>A (p.Ala299Thr) rs1855416179
NM_006096.4(NDRG1):c.973C>A (p.Arg325=) rs141078746
NM_006158.5(NEFL):c.1007T>C (p.Leu336Pro) rs587777881
NM_006158.5(NEFL):c.1008GGA[1] (p.Glu337del) rs1803033503
NM_006158.5(NEFL):c.1039_1040del (p.Met347fs) rs1803032912
NM_006158.5(NEFL):c.1086G>A (p.Lys362=) rs1013536878
NM_006158.5(NEFL):c.1123C>T (p.Leu375Phe) rs1803010527
NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys) rs62636503
NM_006158.5(NEFL):c.1193C>A (p.Thr398Asn) rs1586126731
NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro) rs372997416
NM_006158.5(NEFL):c.1245C>G (p.Ser415Arg) rs1803003337
NM_006158.5(NEFL):c.1261C>T (p.Arg421Ter) rs191346286
NM_006158.5(NEFL):c.1611A>G (p.Gln537=) rs1802987929
NM_006158.5(NEFL):c.23C>A (p.Pro8Gln) rs61491953
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.5(NEFL):c.304G>T (p.Ala102Ser) rs1323026981
NM_006158.5(NEFL):c.321C>G (p.Arg107=) rs1198042093
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro) rs1554497641
NM_006158.5(NEFL):c.420G>A (p.Glu140=) rs1586128713
NM_006158.5(NEFL):c.44A>C (p.Lys15Thr) rs776351925
NM_006158.5(NEFL):c.507G>A (p.Glu169=) rs750417735
NM_006158.5(NEFL):c.509C>G (p.Thr170Ser) rs541360328
NM_006158.5(NEFL):c.541G>T (p.Glu181Ter) rs774653437
NM_006158.5(NEFL):c.582A>C (p.Glu194Asp) rs532240912
NM_006158.5(NEFL):c.630G>A (p.Glu210=) rs1803043048
NM_006158.5(NEFL):c.678G>T (p.Val226=) rs1803042195
NM_006158.5(NEFL):c.86T>C (p.Val29Ala) rs372748927
NM_006158.5(NEFL):c.993_994insT (p.Gln332fs) rs1803034177
NM_006158.5(NEFL):c.999_1004delinsTGTCG (p.Gln334fs) rs1803033886
NM_006415.4(SPTLC1):c.100T>G (p.Trp34Gly) rs199606270
NM_006415.4(SPTLC1):c.1137-23GT[6] rs147137401
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006415.4(SPTLC1):c.1302AGA[1] (p.Glu436del) rs777170186
NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp) rs119482082
NM_006415.4(SPTLC1):c.442T>G (p.Leu148Val) rs376342795
NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu) rs45461899
NM_006415.4(SPTLC1):c.483C>T (p.Ala161=) rs1834354782
NM_006415.4(SPTLC1):c.560+16G>A rs73512337
NM_006415.4(SPTLC1):c.640A>C (p.Met214Leu) rs781435924
NM_006736.6(DNAJB2):c.264T>C (p.Gly88=) rs1951908977
NM_006736.6(DNAJB2):c.353-9T>G rs1951917611
NM_006736.6(DNAJB2):c.868C>G (p.Gln290Glu) rs773564082
NM_006736.6(DNAJB2):c.89G>A (p.Trp30Ter) rs1951895452
NM_006736.6(DNAJB2):c.966C>G (p.Leu322=) rs375689394
NM_014845.6(FIG4):c.105A>G (p.Lys35=) rs1775388283
NM_014845.6(FIG4):c.1272-10C>G rs201293291
NM_014845.6(FIG4):c.1272-10C>T rs201293291
NM_014845.6(FIG4):c.1356T>C (p.Asp452=) rs1777130180
NM_014845.6(FIG4):c.1536G>T (p.Leu512=) rs1777242124
NM_014845.6(FIG4):c.1763A>G (p.Gln588Arg) rs1562677647
NM_014845.6(FIG4):c.1794C>A (p.Phe598Leu) rs1777638116
NM_014845.6(FIG4):c.1801del (p.Thr601fs) rs1777638564
NM_014845.6(FIG4):c.1835C>T (p.Thr612Ile) rs780595685
NM_014845.6(FIG4):c.1879A>G (p.Thr627Ala) rs762859144
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014845.6(FIG4):c.2097-10C>T rs142482745
NM_014845.6(FIG4):c.2116G>T (p.Val706Phe) rs754830354
NM_014845.6(FIG4):c.2241G>A (p.Pro747=) rs148589135
NM_014845.6(FIG4):c.2247dup (p.Ser750fs) rs767193357
NM_014845.6(FIG4):c.2327C>G (p.Ser776Cys) rs760215765
NM_014845.6(FIG4):c.2377-20_2377-19insCT rs557926044
NM_014845.6(FIG4):c.2441A>T (p.Asp814Val) rs1778168177
NM_014845.6(FIG4):c.2547-5T>G rs200267243
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser) rs571563767
NM_014845.6(FIG4):c.446+32dup rs11459279
NM_014845.6(FIG4):c.447-16delinsTT rs1776038653
NM_014845.6(FIG4):c.447-17dup rs764540259
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014845.6(FIG4):c.447-4_447-3dup rs11377100
NM_014845.6(FIG4):c.744G>A (p.Leu248=) rs76125290
NM_014845.6(FIG4):c.799G>C (p.Val267Leu) rs1776321116
NM_014874.4(MFN2):c.1085C>G (p.Thr362Arg) rs387906991
NM_014874.4(MFN2):c.1393-8G>A rs1639330742
NM_014874.4(MFN2):c.1476C>T (p.Thr492=) rs143428548
NM_014874.4(MFN2):c.1495+10del rs754692803
NM_014874.4(MFN2):c.159C>G (p.Ser53Arg) rs61733200
NM_014874.4(MFN2):c.176-3C>T rs975369655
NM_014874.4(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.4(MFN2):c.2028C>T (p.Val676=) rs780836559
NM_014874.4(MFN2):c.2069+18A>G rs551549595
NM_014874.4(MFN2):c.2070-11C>T rs759614417
NM_014874.4(MFN2):c.2070-8C>T rs1321940926
NM_014874.4(MFN2):c.2093A>G (p.His698Arg) rs1060501916
NM_014874.4(MFN2):c.2120_2128del (p.Arg707_Asn709del) rs1639600409
NM_014874.4(MFN2):c.2171T>G (p.Leu724Arg) rs1557537346
NM_014874.4(MFN2):c.262A>G (p.Ile88Val) rs1569816194
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014874.4(MFN2):c.292A>G (p.Lys98Glu) rs1553141706
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.4(MFN2):c.318C>T (p.Ser106=) rs778937659
NM_014874.4(MFN2):c.467G>T (p.Ser156Ile) rs1557521949
NM_014874.4(MFN2):c.564C>T (p.Cys188=) rs536007087
NM_014874.4(MFN2):c.628G>C (p.Asp210His) rs1064794315
NM_014874.4(MFN2):c.661G>C (p.Asp221His) rs1569842525
NM_014874.4(MFN2):c.692C>G (p.Ser231Cys) rs1569842714
NM_014874.4(MFN2):c.708+10C>T rs1639049020
NM_014874.4(MFN2):c.751C>G (p.Pro251Ala) rs28940295
NM_014874.4(MFN2):c.757A>T (p.Ile253Phe) rs1639057845
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014874.4(MFN2):c.796G>A (p.Glu266Lys) rs1569844113
NM_014874.4(MFN2):c.796G>C (p.Glu266Gln) rs1569844113
NM_014874.4(MFN2):c.802G>A (p.Glu268Lys) rs1453267972
NM_014874.4(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_014874.4(MFN2):c.913T>G (p.Ser305Ala) rs1639171448
NM_016156.6(MTMR2):c.*17G>A rs1590967661
NM_016156.6(MTMR2):c.-15T>C rs1867041432
NM_016156.6(MTMR2):c.-16C>T rs1312979957
NM_016156.6(MTMR2):c.1770+7_1770+19delinsC rs1555056865
NM_016156.6(MTMR2):c.186+19A>T rs12385798
NM_016156.6(MTMR2):c.1915G>T (p.Val639Phe) rs1356220463
NM_016156.6(MTMR2):c.358-39_358-16del rs1864444648
NM_016156.6(MTMR2):c.358-42_358-18del rs1864444752
NM_016156.6(MTMR2):c.56C>T (p.Pro19Leu) rs574213477
NM_016156.6(MTMR2):c.684A>G (p.Thr228=) rs116484470
NM_018972.4(GDAP1):c.-19C>T rs371103821
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) rs761035569
NM_018972.4(GDAP1):c.118-16G>A rs757760120
NM_018972.4(GDAP1):c.207G>A (p.Met69Ile) rs770714080
NM_018972.4(GDAP1):c.272_274delinsTTT (p.Thr91_Gln92delinsIleTer) rs1808869772
NM_018972.4(GDAP1):c.28G>A (p.Gly10Arg) rs1808794425
NM_018972.4(GDAP1):c.311-7A>G rs1809284445
NM_018972.4(GDAP1):c.492T>C (p.Ile164=) rs1809382139
NM_018972.4(GDAP1):c.4G>A (p.Ala2Thr) rs1808792150
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_018972.4(GDAP1):c.609G>A (p.Lys203=) rs758365842
NM_018972.4(GDAP1):c.677G>A (p.Arg226Lys) rs1586806242
NM_018972.4(GDAP1):c.75G>A (p.Lys25=) rs761730309
NM_021625.5(TRPV4):c.1039G>A (p.Asp347Asn) rs1006063188
NM_021625.5(TRPV4):c.1152+12G>T rs776419711
NM_021625.5(TRPV4):c.1152+15dup rs746148872
NM_021625.5(TRPV4):c.1333-16A>C rs199994834
NM_021625.5(TRPV4):c.1337G>A (p.Arg446His) rs143502097
NM_021625.5(TRPV4):c.1584+18G>C rs10850750
NM_021625.5(TRPV4):c.1585-15C>A rs1890178822
NM_021625.5(TRPV4):c.167G>A (p.Arg56His) rs767169716
NM_021625.5(TRPV4):c.1782_1783del (p.Gly595fs) rs1252509184
NM_021625.5(TRPV4):c.1825-15C>G rs200602134
NM_021625.5(TRPV4):c.1825-15C>T rs200602134
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile) rs121912633
NM_021625.5(TRPV4):c.2336+10G>C rs746178717
NM_021625.5(TRPV4):c.2349G>C (p.Val783=) rs778478432
NM_021625.5(TRPV4):c.2524G>A (p.Val842Met) rs1255642563
NM_021625.5(TRPV4):c.396G>A (p.Pro132=) rs114101785
NM_021625.5(TRPV4):c.396G>T (p.Pro132=) rs114101785
NM_021625.5(TRPV4):c.403C>T (p.Pro135Ser) rs754155333
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.5(TRPV4):c.712+1G>T rs1449705702
NM_021625.5(TRPV4):c.760G>A (p.Val254Met) rs143548402
NM_021625.5(TRPV4):c.760G>C (p.Val254Leu) rs143548402
NM_021625.5(TRPV4):c.796G>C (p.Ala266Pro) rs752366465
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.5(TRPV4):c.903C>G (p.Val301=) rs748103823
NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys) rs267607145
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val) rs139653980
NM_024577.4(SH3TC2):c.1177+18T>A rs1454045139
NM_024577.4(SH3TC2):c.1306T>A (p.Ser436Thr) rs1754119445
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) rs863224780
NM_024577.4(SH3TC2):c.1405C>T (p.Pro469Ser) rs1370966250
NM_024577.4(SH3TC2):c.151+15_151+16del rs569906096
NM_024577.4(SH3TC2):c.1583C>T (p.Ala528Val) rs537134516
NM_024577.4(SH3TC2):c.1584C>G (p.Ala528=) rs762967613
NM_024577.4(SH3TC2):c.1748G>C (p.Arg583Thr) rs757781673
NM_024577.4(SH3TC2):c.192G>T (p.Arg64Ser) rs571440448
NM_024577.4(SH3TC2):c.2036T>G (p.Leu679Arg) rs1754096264
NM_024577.4(SH3TC2):c.2095C>T (p.Gln699Ter) rs1754094644
NM_024577.4(SH3TC2):c.2184C>A (p.Gly728=) rs1754092804
NM_024577.4(SH3TC2):c.2263A>G (p.Thr755Ala) rs1332446150
NM_024577.4(SH3TC2):c.2275C>A (p.Leu759Met) rs1754090424
NM_024577.4(SH3TC2):c.2433G>T (p.Gln811His) rs746538256
NM_024577.4(SH3TC2):c.2489_2492del (p.Glu830fs) rs80338929
NM_024577.4(SH3TC2):c.2551_2554dup (p.Val852fs) rs1754081385
NM_024577.4(SH3TC2):c.2554G>A (p.Val852Met) rs1754081317
NM_024577.4(SH3TC2):c.2718T>C (p.Tyr906=) rs148073022
NM_024577.4(SH3TC2):c.2873-17C>T rs1754070873
NM_024577.4(SH3TC2):c.2873G>A (p.Ser958Asn) rs1205847384
NM_024577.4(SH3TC2):c.2962C>A (p.Leu988Met) rs763964456
NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter) rs370115218
NM_024577.4(SH3TC2):c.3204+5G>A rs1753801589
NM_024577.4(SH3TC2):c.3594A>C (p.Pro1198=) rs6871030
NM_024577.4(SH3TC2):c.3594A>G (p.Pro1198=) rs6871030
NM_024577.4(SH3TC2):c.3773A>G (p.Asp1258Gly) rs1753657973
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024577.4(SH3TC2):c.3847G>T (p.Gly1283Cys) rs370844006
NM_024577.4(SH3TC2):c.3856C>G (p.Leu1286Val) rs1261276778
NM_024577.4(SH3TC2):c.52+4A>G rs1170747720
NM_024577.4(SH3TC2):c.53-17del rs1754572524
NM_024577.4(SH3TC2):c.620C>T (p.Ser207Leu) rs1754371447
NM_024577.4(SH3TC2):c.661T>C (p.Ser221Pro) rs747024391
NM_024577.4(SH3TC2):c.679C>T (p.Arg227Trp) rs532463685
NM_024577.4(SH3TC2):c.687G>C (p.Leu229=) rs1025939209
NM_024577.4(SH3TC2):c.731+17C>A rs1188522082
NM_024577.4(SH3TC2):c.793T>A (p.Ser265Thr) rs1580909284
NM_024577.4(SH3TC2):c.822_850dup (p.Lys284delinsArgProTer) rs1754319130
NM_030962.4(SBF2):c.1045A>G (p.Lys349Glu) rs746685729
NM_030962.4(SBF2):c.1395+1G>A rs1947335024
NM_030962.4(SBF2):c.142-14dup rs530695547
NM_030962.4(SBF2):c.1632C>A (p.Phe544Leu) rs777289065
NM_030962.4(SBF2):c.1711-9T>C rs1866612014
NM_030962.4(SBF2):c.2109T>C (p.Leu703=) rs1857341131
NM_030962.4(SBF2):c.2536+16A>T rs200967111
NM_030962.4(SBF2):c.2611-35AATC[4] rs202029370
NM_030962.4(SBF2):c.2611-35AATC[6] rs202029370
NM_030962.4(SBF2):c.266A>C (p.Glu89Ala) rs1949706329
NM_030962.4(SBF2):c.3292C>G (p.Leu1098Val) rs117957652
NM_030962.4(SBF2):c.3383G>A (p.Gly1128Asp) rs1855965122
NM_030962.4(SBF2):c.3450C>T (p.Cys1150=) rs377608130
NM_030962.4(SBF2):c.3456-22_3456-18del rs751512324
NM_030962.4(SBF2):c.4290C>T (p.Pro1430=) rs1853958405
NM_030962.4(SBF2):c.4332A>C (p.Lys1444Asn) rs1853955123
NM_030962.4(SBF2):c.4355A>G (p.Lys1452Arg) rs1853954509
NM_030962.4(SBF2):c.4384A>T (p.Asn1462Tyr) rs1853953374
NM_030962.4(SBF2):c.4539C>T (p.Leu1513=) rs756073763
NM_030962.4(SBF2):c.4635T>A (p.Ile1545=) rs1852679218
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del) rs572571832
NM_030962.4(SBF2):c.5038-9C>G rs1453213030
NM_030962.4(SBF2):c.5043A>G (p.Gln1681=) rs779654145
NM_030962.4(SBF2):c.5277T>G (p.Gly1759=) rs774505575
NM_030962.4(SBF2):c.5451+8G>C rs948210964
NM_030962.4(SBF2):c.5452-3T>C rs770176461
NM_030962.4(SBF2):c.753-16T>C rs7128234
NM_030962.4(SBF2):c.861+5G>C rs879253963
NM_030962.4(SBF2):c.861+9T>A rs1947927028
NM_030962.4(SBF2):c.948A>C (p.Leu316=) rs772340409
NM_030973.4(MED25):c.107G>A (p.Arg36His) rs1555800954
NM_030973.4(MED25):c.1101+24_1101+42dup rs564179307
NM_030973.4(MED25):c.1102-11C>G rs1166792631
NM_030973.4(MED25):c.1317-16del rs748829394
NM_030973.4(MED25):c.135-1G>A rs2073955922
NM_030973.4(MED25):c.1369C>T (p.Leu457=) rs566536708
NM_030973.4(MED25):c.1482+17G>A rs2074065045
NM_030973.4(MED25):c.1594G>A (p.Gly532Ser) rs964471885
NM_030973.4(MED25):c.1674+19C>T rs752522
NM_030973.4(MED25):c.168C>T (p.Asp56=) rs1469914664
NM_030973.4(MED25):c.186G>A (p.Gly62=) rs2073963607
NM_030973.4(MED25):c.1889C>T (p.Pro630Leu) rs775342932
NM_030973.4(MED25):c.1966-5C>T rs757221753
NM_030973.4(MED25):c.2037G>A (p.Leu679=) rs2074097615
NM_030973.4(MED25):c.2146+19G>T rs568964675
NM_030973.4(MED25):c.228C>T (p.Cys76=) rs770196362
NM_030973.4(MED25):c.234C>G (p.Pro78=) rs74863643
NM_030973.4(MED25):c.249A>C (p.Gln83His) rs1291395600
NM_030973.4(MED25):c.558G>A (p.Arg186=) rs761471297
NM_030973.4(MED25):c.580C>T (p.Leu194=) rs2074040770
NM_030973.4(MED25):c.597C>A (p.Ala199=) rs149788020
NM_030973.4(MED25):c.807_809del (p.Pro270del) rs767980819
NM_030973.4(MED25):c.908-3_908-2del rs766739944
NM_170707.4(LMNA):c.1261C>T (p.Leu421=) rs1194745110
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.1639G>A (p.Val547Met) rs201947393
NM_170707.4(LMNA):c.1968+18dup rs554157057
NM_170707.4(LMNA):c.486G>A (p.Leu162=) rs727503135
NM_170707.4(LMNA):c.572T>G (p.Val191Gly) rs752087253
NM_170707.4(LMNA):c.583A>C (p.Asn195His) rs1651346681
NM_170707.4(LMNA):c.897C>G (p.Ile299Met) rs762718963
NM_181882.3(PRX):c.1077C>G (p.Arg359=) rs1357784205
NM_181882.3(PRX):c.121_122insAAGCTGCGCGAG (p.Glu40_Gly41insGluAlaAlaArg) rs2079512784
NM_181882.3(PRX):c.122_124delinsAAGCTGCGCGAGGAAGCTGC (p.Gly41fs) rs2079512694
NM_181882.3(PRX):c.122del (p.Gly41fs) rs2079512738
NM_181882.3(PRX):c.124_125insGCTGC (p.Ile42fs) rs2079512634
NM_181882.3(PRX):c.1490_1491delinsTG (p.Pro497Leu) rs2079443969
NM_181882.3(PRX):c.1491C>G (p.Pro497=) rs1224453835
NM_181882.3(PRX):c.158C>A (p.Ala53Asp) rs753322071
NM_181882.3(PRX):c.1638A>G (p.Val546=) rs774541568
NM_181882.3(PRX):c.165_177dup (p.Gln60fs) rs1599662669
NM_181882.3(PRX):c.1672G>A (p.Glu558Lys) rs1318870390
NM_181882.3(PRX):c.1678T>C (p.Ser560Pro) rs1299743311
NM_181882.3(PRX):c.1695A>G (p.Pro565=) rs1000191235
NM_181882.3(PRX):c.1695A>T (p.Pro565=) rs1000191235
NM_181882.3(PRX):c.17G>T (p.Arg6Leu) rs774078598
NM_181882.3(PRX):c.1818G>A (p.Pro606=) rs768022787
NM_181882.3(PRX):c.1836C>A (p.Ala612=) rs574899855
NM_181882.3(PRX):c.1857A>G (p.Pro619=) rs779898963
NM_181882.3(PRX):c.1986C>T (p.Val662=) rs1279008110
NM_181882.3(PRX):c.2293G>T (p.Asp765Tyr) rs541455813
NM_181882.3(PRX):c.2297T>C (p.Val766Ala) rs1599653064
NM_181882.3(PRX):c.2400G>A (p.Lys800=) rs2079430394
NM_181882.3(PRX):c.2424G>A (p.Lys808=) rs2079430194
NM_181882.3(PRX):c.2628G>A (p.Met876Ile) rs1307077953
NM_181882.3(PRX):c.2641C>A (p.Arg881=) rs375201649
NM_181882.3(PRX):c.2724G>T (p.Leu908=) rs2079426389
NM_181882.3(PRX):c.2819G>A (p.Gly940Glu) rs1322545345
NM_181882.3(PRX):c.281_283del (p.Phe94del) rs1424434006
NM_181882.3(PRX):c.300G>A (p.Val100=) rs747794739
NM_181882.3(PRX):c.3011C>T (p.Ser1004Leu) rs996865233
NM_181882.3(PRX):c.3190C>T (p.Pro1064Ser) rs937051533
NM_181882.3(PRX):c.3195C>T (p.Ser1065=) rs2079420208
NM_181882.3(PRX):c.3198del (p.Phe1066fs) rs1599651549
NM_181882.3(PRX):c.3286_3356del (p.Ile1096fs) rs1555800610
NM_181882.3(PRX):c.3322G>A (p.Glu1108Lys) rs2079418168
NM_181882.3(PRX):c.335_340del (p.Val112_Ser113del) rs1359760408
NM_181882.3(PRX):c.3374G>T (p.Gly1125Val) rs2079417519
NM_181882.3(PRX):c.3424G>A (p.Gly1142Arg) rs778707867
NM_181882.3(PRX):c.3519A>C (p.Thr1173=) rs567285703
NM_181882.3(PRX):c.3715G>T (p.Gly1239Cys) rs2079412833
NM_181882.3(PRX):c.3767T>G (p.Val1256Gly) rs2079412133
NM_181882.3(PRX):c.3831C>G (p.Pro1277=) rs577796628
NM_181882.3(PRX):c.3857G>A (p.Gly1286Asp) rs2079410631
NM_181882.3(PRX):c.3920G>C (p.Arg1307Pro) rs767394584
NM_181882.3(PRX):c.4059GGA[5] (p.Glu1360_Glu1361del) rs139624657
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del) rs139624657
NM_181882.3(PRX):c.4059GGA[8] (p.Glu1361dup) rs139624657
NM_181882.3(PRX):c.4097G>A (p.Gly1366Glu) rs748112276
NM_181882.3(PRX):c.4146C>T (p.Gly1382=) rs2079405908
NM_181882.3(PRX):c.4199A>G (p.Lys1400Arg) rs1296150158
NM_181882.3(PRX):c.4274G>C (p.Ser1425Thr) rs2079404176
NM_181882.3(PRX):c.44A>G (p.Glu15Gly) rs202192239
NM_181882.3(PRX):c.500G>A (p.Arg167His) rs757322355
NM_181882.3(PRX):c.680C>T (p.Ala227Val) rs532808153
NM_181882.3(PRX):c.682C>G (p.Arg228Gly) rs751238438
NM_181882.3(PRX):c.682C>T (p.Arg228Cys) rs751238438
NM_181882.3(PRX):c.717G>T (p.Pro239=) rs761293957
NM_181882.3(PRX):c.832_861del (p.Pro278_Ala287del) rs2079451762
NM_181882.3(PRX):c.861C>T (p.Ala287=) rs535958285

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