ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 839
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HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) rs2295837 0.04647
NM_006096.4(NDRG1):c.199A>G (p.Met67Val) rs2233319 0.00829
NM_001365951.3(KIF1B):c.3864+6A>C rs114266141 0.00716
NM_181882.3(PRX):c.4044G>C (p.Gly1348=) rs76088917 0.00620
NM_030973.4(MED25):c.2056C>T (p.Leu686=) rs201969940 0.00598
NM_001370298.3(FGD4):c.1143G>A (p.Ser381=) rs34555341 0.00555
NM_181882.3(PRX):c.1281C>T (p.Ile427=) rs76960467 0.00551
NM_030962.4(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577 0.00548
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln) rs113808165 0.00541
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430 0.00506
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_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.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_002180.3(IGHMBP2):c.1821C>T (p.His607=) rs34658653 0.00420
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_030973.4(MED25):c.93C>T (p.Tyr31=) rs61742955 0.00394
NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr) rs116012780 0.00392
NM_024577.4(SH3TC2):c.3362C>T (p.Ala1121Val) rs115577291 0.00390
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_181882.3(PRX):c.3802G>C (p.Ala1268Pro) rs146061247 0.00332
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_001365951.3(KIF1B):c.5020G>A (p.Glu1674Lys) rs143669846 0.00317
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00309
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
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_181882.3(PRX):c.3846G>A (p.Ser1282=) rs143289108 0.00288
NM_018972.4(GDAP1):c.117+12C>G rs202059380 0.00284
NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile) rs141292904 0.00272
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_021625.5(TRPV4):c.712+10C>T rs115657305 0.00260
NM_181882.3(PRX):c.2043C>T (p.Pro681=) rs56743160 0.00259
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_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146 0.00231
NM_024577.4(SH3TC2):c.3479-8A>G rs147800229 0.00227
NM_021625.5(TRPV4):c.1824+4C>T rs147259744 0.00225
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_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813 0.00210
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_181882.3(PRX):c.445G>A (p.Ala149Thr) rs142436391 0.00193
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_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_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_024577.4(SH3TC2):c.1177+10G>A rs139257109 0.00153
NM_001540.5(HSPB1):c.-19C>T rs199602956 0.00149
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_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_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510 0.00132
NM_002180.3(IGHMBP2):c.132C>T (p.Gly44=) rs78807992 0.00130
NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=) rs139416105 0.00128
NM_014845.6(FIG4):c.446+9G>A rs190287033 0.00128
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657 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_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_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_030973.4(MED25):c.354C>T (p.Leu118=) rs145574885 0.00110
NM_001365951.3(KIF1B):c.5097-9C>T rs376873833 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_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_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_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_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_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_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_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_030962.4(SBF2):c.3969G>A (p.Ser1323=) rs77833016 0.00067
NM_001005373.4(LRSAM1):c.1974T>C (p.Ser658=) rs140336379 0.00065
NM_002180.3(IGHMBP2):c.548-10T>G rs139207271 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_002047.4(GARS1):c.699C>T (p.Val233=) rs187937286 0.00063
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu) rs138776588 0.00063
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_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_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_021625.5(TRPV4):c.1656del (p.Tyr553fs) rs541606391 0.00054
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844 0.00053
NM_014874.4(MFN2):c.756C>T (p.Asn252=) rs137960129 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_001376.5(DYNC1H1):c.1173A>G (p.Gln391=) rs17540735 0.00049
NM_002180.3(IGHMBP2):c.*6C>T rs117995705 0.00049
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_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_001376.5(DYNC1H1):c.10908+10G>A rs201277756 0.00045
NM_021625.5(TRPV4):c.1539C>T (p.Gly513=) rs141295418 0.00043
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055 0.00042
NM_021625.5(TRPV4):c.1491+10C>T rs201815805 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_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_002047.4(GARS1):c.1904-18T>C rs41275991 0.00036
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val) rs115976458 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.7203A>C (p.Lys2401Asn) rs150888094 0.00032
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_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_021625.5(TRPV4):c.1464C>T (p.Thr488=) rs146841400 0.00029
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=) rs375633647 0.00029
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812 0.00029
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_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_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_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.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_001376.5(DYNC1H1):c.4176T>C (p.Gly1392=) rs112261870 0.00020
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_024577.4(SH3TC2):c.1839C>T (p.Leu613=) rs182893450 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_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 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_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_021625.5(TRPV4):c.1658+15C>T rs200083069 0.00016
NM_030962.4(SBF2):c.2319G>A (p.Ala773=) rs201547070 0.00016
NM_030962.4(SBF2):c.3843A>G (p.Thr1281=) rs147597665 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_021625.5(TRPV4):c.1278G>A (p.Thr426=) rs139179261 0.00015
NM_030962.4(SBF2):c.1812C>T (p.Asp604=) rs765658939 0.00015
NM_181882.3(PRX):c.-20A>C rs780315081 0.00015
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) rs587781246 0.00014
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_002047.4(GARS1):c.1743G>C (p.Leu581=) rs370844461 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.870C>T (p.Gly290=) rs368302487 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_030973.4(MED25):c.1747-19_1747-18del rs752695799 0.00014
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_006158.5(NEFL):c.227T>C (p.Val76Ala) rs58907919 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.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_000304.4(PMP22):c.402C>T (p.Phe134=) rs536417866 0.00011
NM_001005373.4(LRSAM1):c.751-8C>G rs367823841 0.00011
NM_001540.5(HSPB1):c.365-7C>G rs201897299 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_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_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_014874.4(MFN2):c.2112C>T (p.Asp704=) rs374371748 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.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_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.270C>T (p.Asp90=) rs369898799 0.00009
NM_004208.4(AIFM1):c.1047C>T (p.Ser349=) rs781350745 0.00009
NM_005391.5(PDK3):c.751-10A>G rs372774822 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_001376.5(DYNC1H1):c.12102+20C>T rs200362531 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.771-15C>G rs201328384 0.00008
NM_006158.5(NEFL):c.1212C>T (p.Ser404=) rs60547413 0.00008
NM_014845.6(FIG4):c.918C>T (p.Cys306=) rs369159531 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_001365951.3(KIF1B):c.1557T>C (p.Asp519=) rs146364486 0.00007
NM_001376.5(DYNC1H1):c.3804+9C>T rs377635872 0.00007
NM_014874.4(MFN2):c.2130G>A (p.Leu710=) rs755608041 0.00007
NM_021625.5(TRPV4):c.2517C>T (p.Asp839=) rs546957932 0.00007
NM_030973.4(MED25):c.1227A>G (p.Gln409=) rs769851706 0.00007
NM_000166.6(GJB1):c.441C>T (p.Ala147=) rs765686240 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_002180.3(IGHMBP2):c.*18C>T rs370227350 0.00006
NM_004637.6(RAB7A):c.180+9A>G rs762831187 0.00006
NM_006158.5(NEFL):c.1169+14G>A rs1281585043 0.00006
NM_014845.6(FIG4):c.2154A>G (p.Pro718=) rs201138266 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_024577.4(SH3TC2):c.1814G>A (p.Arg605His) rs186864272 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.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.597C>T (p.Ala199=) rs144157275 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_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_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.2619G>A (p.Pro873=) rs373001247 0.00005
NM_004208.4(AIFM1):c.249+1258T>C rs753318816 0.00005
NM_014845.6(FIG4):c.1341T>C (p.Phe447=) rs199651811 0.00005
NM_030973.4(MED25):c.1572C>T (p.Gly524=) rs559482732 0.00005
NM_181882.3(PRX):c.642C>A (p.Pro214=) rs551628239 0.00005
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_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.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_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.2612-15G>A rs372230504 0.00004
NM_004208.4(AIFM1):c.939C>T (p.Ser313=) rs768118991 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_006736.6(DNAJB2):c.352+20C>G rs755259886 0.00004
NM_006736.6(DNAJB2):c.444C>T (p.Ser148=) rs200554674 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_016156.6(MTMR2):c.186+9A>G rs371081575 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.936G>A (p.Ala312=) rs202084699 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_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_170707.4(LMNA):c.936+12C>T rs199881992 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.747C>T (p.Pro249=) rs3814289 0.00004
NM_000166.6(GJB1):c.830G>A (p.Ser277Asn) rs748095080 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_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_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.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_006096.4(NDRG1):c.1062C>G (p.Ser354=) rs560162089 0.00003
NM_006415.4(SPTLC1):c.993C>T (p.Ser331=) rs141150508 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_024577.4(SH3TC2):c.1017C>T (p.Ala339=) rs201779392 0.00003
NM_024577.4(SH3TC2):c.660G>C (p.Val220=) rs202052720 0.00003
NM_030962.4(SBF2):c.403-15T>G rs887143579 0.00003
NM_030973.4(MED25):c.1764G>A (p.Pro588=) rs758729127 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.3939G>A (p.Leu1313=) rs140109585 0.00003
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_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_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.2670C>T (p.Ala890=) rs759271458 0.00002
NM_002180.3(IGHMBP2):c.273G>T (p.Leu91=) rs772280279 0.00002
NM_002180.3(IGHMBP2):c.2836C>T (p.Arg946Trp) rs373943338 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.2163G>C (p.Val721=) rs762587995 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.663+20C>T rs780847522 0.00002
NM_006096.4(NDRG1):c.100-3C>T rs775475505 0.00002
NM_006096.4(NDRG1):c.861G>A (p.Ala287=) rs150101908 0.00002
NM_006158.5(NEFL):c.1170-19C>T rs762116919 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.723C>T (p.Phe241=) rs764912025 0.00002
NM_014874.4(MFN2):c.809T>C (p.Met270Thr) rs771996573 0.00002
NM_016156.6(MTMR2):c.1387-19T>G rs760358740 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_021625.5(TRPV4):c.1824+5G>A rs755945349 0.00002
NM_021625.5(TRPV4):c.2610G>A (p.Pro870=) rs548680957 0.00002
NM_021625.5(TRPV4):c.834G>A (p.Glu278=) rs529115496 0.00002
NM_024577.4(SH3TC2):c.1136-12A>G rs367677521 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.5007G>A (p.Val1669=) rs918725972 0.00002
NM_030973.4(MED25):c.2146+6G>A rs756773643 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.810+12C>T rs746914371 0.00002
NM_181882.3(PRX):c.1950C>T (p.Pro650=) rs761824931 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_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.807C>T (p.Thr269=) rs750620543 0.00001
NM_000304.4(PMP22):c.354G>T (p.Thr118=) rs776275784 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.531C>T (p.Tyr177=) rs779159258 0.00001
NM_001005373.4(LRSAM1):c.1160-7C>T rs377144291 0.00001
NM_001005373.4(LRSAM1):c.330C>T (p.Asn110=) rs374848673 0.00001
NM_001005373.4(LRSAM1):c.846C>G (p.Thr282=) rs548270854 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.5097-11G>T rs765592840 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_001370298.3(FGD4):c.1248-13A>G rs551481786 0.00001
NM_001370298.3(FGD4):c.1602+7G>A rs369751598 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_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.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.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.8262C>T (p.Ala2754=) rs758178917 0.00001
NM_001376.5(DYNC1H1):c.8631G>A (p.Leu2877=) rs1169712846 0.00001
NM_001540.5(HSPB1):c.567C>T (p.Ala189=) rs528301561 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.1809+13G>A rs1183436159 0.00001
NM_002047.4(GARS1):c.1809+16C>T rs752229312 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.1596C>T (p.Ala532=) rs988590959 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_002529.4(NTRK1):c.574+1G>A rs1232901259 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.1368+15C>T rs371511467 0.00001
NM_004990.4(MARS1):c.1731G>A (p.Leu577=) rs773313017 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.699-16C>G rs567104964 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.612C>T (p.Leu204=) rs370031604 0.00001
NM_006415.4(SPTLC1):c.1254+8del rs771209816 0.00001
NM_006415.4(SPTLC1):c.58-19G>C rs376799813 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.1750+11A>C rs766372971 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.1717-12T>G rs757942090 0.00001
NM_014874.4(MFN2):c.1717-15T>C rs752294693 0.00001
NM_014874.4(MFN2):c.1724G>A (p.Arg575His) rs564375950 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_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_021625.5(TRPV4):c.1824+14G>A rs1019790413 0.00001
NM_021625.5(TRPV4):c.1977G>A (p.Ser659=) rs1889847260 0.00001
NM_021625.5(TRPV4):c.2092C>T (p.Leu698=) rs774321681 0.00001
NM_021625.5(TRPV4):c.2157C>T (p.Gly719=) rs150719390 0.00001
NM_021625.5(TRPV4):c.615C>A (p.Gly205=) rs377729962 0.00001
NM_024577.4(SH3TC2):c.1002-8C>T rs748766254 0.00001
NM_024577.4(SH3TC2):c.2535A>C (p.Ala845=) rs1406112399 0.00001
NM_024577.4(SH3TC2):c.280-4G>A rs747321591 0.00001
NM_024577.4(SH3TC2):c.2873-16C>T rs1387099711 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.945A>G (p.Ser315=) rs144520038 0.00001
NM_030962.4(SBF2):c.1297-13T>C rs777737213 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.4758G>A (p.Glu1586=) rs770533275 0.00001
NM_030962.4(SBF2):c.78A>G (p.Lys26=) rs781552767 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_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.12G>A (p.Pro4=) rs369823958 0.00001
NM_170707.4(LMNA):c.1488+8G>A rs762836610 0.00001
NM_170707.4(LMNA):c.1699-8C>G rs727503137 0.00001
NM_170707.4(LMNA):c.1969-4T>C rs751715969 0.00001
NM_181882.3(PRX):c.1113A>G (p.Glu371=) rs137930942 0.00001
NM_181882.3(PRX):c.2307G>A (p.Pro769=) rs148655811 0.00001
NM_000166.6(GJB1):c.*18C>G rs2092547149
NM_000304.4(PMP22):c.366G>A (p.Pro122=) rs372723732
NM_000371.4(TTR):c.201-3T>C rs2073510064
NM_000371.4(TTR):c.70-19G>A rs548935944
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_000530.8(MPZ):c.42G>A (p.Leu14=) rs1670359930
NM_000530.8(MPZ):c.645+10A>G rs1670232533
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.1351G>A (p.Ala451Thr) rs202166023
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.2028C>G (p.Val676=) rs566890772
NM_001005373.4(LRSAM1):c.51C>T (p.Arg17=) rs1834446417
NM_001005373.4(LRSAM1):c.528+15G>C rs758039190
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.1671-4T>C rs1650224129
NM_001365951.3(KIF1B):c.1968T>C (p.Pro656=) rs1332046524
NM_001365951.3(KIF1B):c.2043-10_2043-9del rs58344165
NM_001365951.3(KIF1B):c.2043-4C>T rs771419523
NM_001365951.3(KIF1B):c.2358+9C>T rs1651536955
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.4305-17T>A rs1323362062
NM_001365951.3(KIF1B):c.4947-13C>G rs1638826414
NM_001365951.3(KIF1B):c.606C>G (p.Ala202=) rs766873320
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_001376.5(DYNC1H1):c.10626+12G>A rs751897147
NM_001376.5(DYNC1H1):c.11112C>T (p.Thr3704=) rs2048607317
NM_001376.5(DYNC1H1):c.11646C>G (p.Thr3882=) rs530450786
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.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.3378G>A (p.Glu1126=) rs2048042753
NM_001376.5(DYNC1H1):c.519-3dup rs2047841392
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.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.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.364+6C>G rs753061670
NM_001540.5(HSPB1):c.364+9_364+20del rs1803032779
NM_001540.5(HSPB1):c.365-5dup rs759570569
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys) rs370057212
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.881+17G>A rs1791560409
NM_002180.3(IGHMBP2):c.1538-11_1538-8del rs1566444289
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.2532G>T (p.Ala844=) rs2228207
NM_002180.3(IGHMBP2):c.2544C>T (p.Pro848=) rs746248057
NM_002180.3(IGHMBP2):c.406C>T (p.Leu136=) rs1858284168
NM_002180.3(IGHMBP2):c.450-13T>C rs1015873972
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_004637.6(RAB7A):c.400-17C>G rs762146227
NM_004637.6(RAB7A):c.529-11T>G rs1363669325
NM_004990.4(MARS1):c.1294-5C>T rs149946100
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.887+17G>A rs201259473
NM_004990.4(MARS1):c.887+17G>C rs201259473
NM_005391.5(PDK3):c.249-9dup rs374771377
NM_006096.4(NDRG1):c.1053_1082del (p.340TRSRSHTSEG[2]) rs751274009
NM_006096.4(NDRG1):c.206-17T>G rs1856694633
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.973C>A (p.Arg325=) rs141078746
NM_006158.5(NEFL):c.1086G>A (p.Lys362=) rs1013536878
NM_006158.5(NEFL):c.1611A>G (p.Gln537=) rs1802987929
NM_006158.5(NEFL):c.321C>G (p.Arg107=) rs1198042093
NM_006158.5(NEFL):c.420G>A (p.Glu140=) rs1586128713
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_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006415.4(SPTLC1):c.483C>T (p.Ala161=) rs1834354782
NM_006415.4(SPTLC1):c.560+16G>A rs73512337
NM_006736.6(DNAJB2):c.264T>C (p.Gly88=) rs1951908977
NM_006736.6(DNAJB2):c.353-9T>G rs1951917611
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.2097-10C>G rs142482745
NM_014845.6(FIG4):c.2097-10C>T rs142482745
NM_014845.6(FIG4):c.2241G>A (p.Pro747=) rs148589135
NM_014845.6(FIG4):c.2377-20_2377-19insCT rs557926044
NM_014845.6(FIG4):c.2547-5T>G rs200267243
NM_014845.6(FIG4):c.447-16delinsTT rs1776038653
NM_014845.6(FIG4):c.744G>A (p.Leu248=) rs76125290
NM_014874.4(MFN2):c.1476C>T (p.Thr492=) rs143428548
NM_014874.4(MFN2):c.1495+10del rs754692803
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.318C>T (p.Ser106=) rs778937659
NM_014874.4(MFN2):c.564C>T (p.Cys188=) rs536007087
NM_014874.4(MFN2):c.708+10C>T rs1639049020
NM_016156.6(MTMR2):c.-16C>T rs1312979957
NM_016156.6(MTMR2):c.1770+7_1770+19delinsC rs1555056865
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.684A>G (p.Thr228=) rs116484470
NM_018972.4(GDAP1):c.-19C>T rs371103821
NM_018972.4(GDAP1):c.118-16G>A rs757760120
NM_018972.4(GDAP1):c.311-7A>G rs1809284445
NM_018972.4(GDAP1):c.492T>C (p.Ile164=) rs1809382139
NM_018972.4(GDAP1):c.609G>A (p.Lys203=) rs758365842
NM_018972.4(GDAP1):c.75G>A (p.Lys25=) rs761730309
NM_021625.5(TRPV4):c.1152+12G>T rs776419711
NM_021625.5(TRPV4):c.1152+15dup rs746148872
NM_021625.5(TRPV4):c.1585-15C>A rs1890178822
NM_021625.5(TRPV4):c.1825-15C>G rs200602134
NM_021625.5(TRPV4):c.1825-15C>T rs200602134
NM_021625.5(TRPV4):c.2336+10G>C rs746178717
NM_021625.5(TRPV4):c.2349G>C (p.Val783=) rs778478432
NM_021625.5(TRPV4):c.396G>T (p.Pro132=) rs114101785
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.903C>G (p.Val301=) rs748103823
NM_024577.4(SH3TC2):c.1177+18T>A rs1454045139
NM_024577.4(SH3TC2):c.1584C>G (p.Ala528=) rs762967613
NM_024577.4(SH3TC2):c.2184C>A (p.Gly728=) rs1754092804
NM_024577.4(SH3TC2):c.2718T>C (p.Tyr906=) rs148073022
NM_024577.4(SH3TC2):c.2873-17C>T rs1754070873
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024577.4(SH3TC2):c.52+4A>G rs1170747720
NM_024577.4(SH3TC2):c.53-17del rs1754572524
NM_024577.4(SH3TC2):c.687G>C (p.Leu229=) rs1025939209
NM_024577.4(SH3TC2):c.731+17C>A rs1188522082
NM_030962.4(SBF2):c.142-14dup rs530695547
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[6] rs202029370
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.4539C>T (p.Leu1513=) rs756073763
NM_030962.4(SBF2):c.4635T>A (p.Ile1545=) rs1852679218
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+9T>A rs1947927028
NM_030962.4(SBF2):c.948A>C (p.Leu316=) rs772340409
NM_030973.4(MED25):c.1102-11C>G rs1166792631
NM_030973.4(MED25):c.1317-16del rs748829394
NM_030973.4(MED25):c.1369C>T (p.Leu457=) rs566536708
NM_030973.4(MED25):c.1482+17G>A rs2074065045
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.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.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_170707.4(LMNA):c.1261C>T (p.Leu421=) rs1194745110
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1968+18dup rs554157057
NM_170707.4(LMNA):c.486G>A (p.Leu162=) rs727503135
NM_181882.3(PRX):c.1077C>G (p.Arg359=) rs1357784205
NM_181882.3(PRX):c.1491C>G (p.Pro497=) rs1224453835
NM_181882.3(PRX):c.1638A>G (p.Val546=) rs774541568
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.1818G>A (p.Pro606=) rs768022787
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.2400G>A (p.Lys800=) rs2079430394
NM_181882.3(PRX):c.2424G>A (p.Lys808=) rs2079430194
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.300G>A (p.Val100=) rs747794739
NM_181882.3(PRX):c.3195C>T (p.Ser1065=) rs2079420208
NM_181882.3(PRX):c.3519A>C (p.Thr1173=) rs567285703
NM_181882.3(PRX):c.3831C>G (p.Pro1277=) rs577796628
NM_181882.3(PRX):c.4059GGA[5] (p.Glu1360_Glu1361del) rs139624657
NM_181882.3(PRX):c.4059GGA[8] (p.Glu1361dup) rs139624657
NM_181882.3(PRX):c.4146C>T (p.Gly1382=) rs2079405908
NM_181882.3(PRX):c.717G>T (p.Pro239=) rs761293957
NM_181882.3(PRX):c.861C>T (p.Ala287=) rs535958285

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