NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr)
|
rs147293270
|
0.00087
|
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu)
|
rs138776588
|
0.00063
|
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His)
|
rs150028248
|
0.00059
|
NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg)
|
rs377121179
|
0.00058
|
NM_181882.3(PRX):c.3769G>A (p.Gly1257Arg)
|
rs200332462
|
0.00058
|
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu)
|
rs530062090
|
0.00056
|
NM_006096.4(NDRG1):c.122A>G (p.His41Arg)
|
rs2233318
|
0.00054
|
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)
|
rs200151353
|
0.00051
|
NM_005548.3(KARS1):c.274G>C (p.Glu92Gln)
|
rs11557669
|
0.00044
|
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr)
|
rs144688852
|
0.00043
|
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val)
|
rs148508128
|
0.00040
|
NM_002972.4(SBF1):c.2605G>A (p.Val869Met)
|
rs200365973
|
0.00033
|
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys)
|
rs374057859
|
0.00027
|
NM_024577.4(SH3TC2):c.385+3A>G
|
rs184593694
|
0.00026
|
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr)
|
rs142963320
|
0.00024
|
NM_006096.4(NDRG1):c.686A>G (p.Asn229Ser)
|
rs137993172
|
0.00024
|
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met)
|
rs139522696
|
0.00020
|
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser)
|
rs140290151
|
0.00019
|
NM_030962.4(SBF2):c.1967G>C (p.Cys656Ser)
|
rs138120231
|
0.00019
|
NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly)
|
rs575937427
|
0.00016
|
NM_025137.4(SPG11):c.5969A>G (p.Tyr1990Cys)
|
rs199920965
|
0.00016
|
NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu)
|
rs779715512
|
0.00015
|
NM_001005373.4(LRSAM1):c.1199G>A (p.Arg400Gln)
|
rs150344223
|
0.00014
|
NM_000304.4(PMP22):c.-134G>A
|
rs754758124
|
0.00013
|
NM_030962.4(SBF2):c.1498C>T (p.Arg500Trp)
|
rs146366305
|
0.00012
|
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys)
|
rs563232654
|
0.00011
|
NM_022489.4(INF2):c.2239+16C>T
|
rs370364755
|
0.00011
|
NM_022489.4(INF2):c.3209G>A (p.Arg1070Gln)
|
rs374424323
|
0.00011
|
NM_030973.4(MED25):c.1438C>G (p.Leu480Val)
|
rs148214958
|
0.00011
|
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys)
|
rs201711375
|
0.00010
|
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp)
|
rs28939073
|
0.00010
|
NM_170707.4(LMNA):c.1202G>A (p.Arg401His)
|
rs141490569
|
0.00010
|
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr)
|
rs369970264
|
0.00009
|
NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val)
|
rs370414354
|
0.00009
|
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg)
|
rs146900850
|
0.00009
|
NM_025137.4(SPG11):c.3320G>C (p.Cys1107Ser)
|
rs201271196
|
0.00009
|
NM_170707.4(LMNA):c.1390A>G (p.Met464Val)
|
rs200262654
|
0.00009
|
NM_002972.4(SBF1):c.3772G>A (p.Ala1258Thr)
|
rs370712299
|
0.00008
|
NM_170707.4(LMNA):c.1381-5G>A
|
rs730880133
|
0.00008
|
NM_170707.4(LMNA):c.1488+6T>G
|
rs369642101
|
0.00008
|
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met)
|
rs765594825
|
0.00008
|
NM_181882.3(PRX):c.1546C>T (p.Arg516Trp)
|
rs144305922
|
0.00008
|
NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu)
|
rs767826365
|
0.00007
|
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile)
|
rs150295026
|
0.00007
|
NM_022489.4(INF2):c.1588G>A (p.Val530Met)
|
rs369984449
|
0.00007
|
NM_024577.4(SH3TC2):c.517C>A (p.Leu173Met)
|
rs147633804
|
0.00007
|
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)
|
rs267607606
|
0.00007
|
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met)
|
rs140330283
|
0.00006
|
NM_000214.3(JAG1):c.248A>G (p.Gln83Arg)
|
rs376092818
|
0.00006
|
NM_000214.3(JAG1):c.316A>G (p.Thr106Ala)
|
rs909905245
|
0.00006
|
NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln)
|
rs138007561
|
0.00006
|
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu)
|
rs1026004197
|
0.00006
|
NM_002180.3(IGHMBP2):c.1018G>A (p.Glu340Lys)
|
rs750580259
|
0.00006
|
NM_002972.4(SBF1):c.4037G>A (p.Arg1346His)
|
rs758581593
|
0.00006
|
NM_022489.4(INF2):c.2459G>A (p.Arg820Gln)
|
rs759989953
|
0.00006
|
NM_022489.4(INF2):c.2755C>G (p.Leu919Val)
|
rs377145979
|
0.00006
|
NM_024577.4(SH3TC2):c.2492G>A (p.Ser831Asn)
|
rs375034766
|
0.00006
|
NM_025137.4(SPG11):c.604A>G (p.Met202Val)
|
rs201875705
|
0.00006
|
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met)
|
rs149003934
|
0.00006
|
NM_000214.3(JAG1):c.3065G>A (p.Arg1022Gln)
|
rs376089631
|
0.00005
|
NM_000214.3(JAG1):c.521C>T (p.Thr174Met)
|
rs144999773
|
0.00005
|
NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln)
|
rs142850278
|
0.00005
|
NM_003172.4(SURF1):c.322G>A (p.Asp108Asn)
|
rs863224226
|
0.00005
|
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser)
|
rs140811185
|
0.00005
|
NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys)
|
rs199624080
|
0.00005
|
NM_022489.4(INF2):c.1485G>A (p.Pro495=)
|
rs780642540
|
0.00005
|
NM_022489.4(INF2):c.1950-3C>A
|
rs777132952
|
0.00005
|
NM_022489.4(INF2):c.638C>T (p.Ala213Val)
|
rs746572452
|
0.00005
|
NM_024577.4(SH3TC2):c.2348C>T (p.Ala783Val)
|
rs377372640
|
0.00005
|
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)
|
rs201082396
|
0.00005
|
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)
|
rs752401008
|
0.00005
|
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln)
|
rs267607570
|
0.00005
|
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser)
|
rs527236046
|
0.00004
|
NM_000214.3(JAG1):c.2312A>G (p.Lys771Arg)
|
rs149949294
|
0.00004
|
NM_000214.3(JAG1):c.2701C>A (p.Pro901Thr)
|
rs372904306
|
0.00004
|
NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser)
|
rs760332763
|
0.00004
|
NM_000214.3(JAG1):c.3398C>T (p.Thr1133Met)
|
rs373260040
|
0.00004
|
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)
|
rs756046682
|
0.00004
|
NM_001605.3(AARS1):c.959G>A (p.Arg320His)
|
rs557600847
|
0.00004
|
NM_002972.4(SBF1):c.3287C>T (p.Ser1096Leu)
|
rs200085962
|
0.00004
|
NM_003172.4(SURF1):c.508G>A (p.Asp170Asn)
|
rs782358655
|
0.00004
|
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr)
|
rs772610025
|
0.00004
|
NM_021625.5(TRPV4):c.190C>T (p.Arg64Ter)
|
rs372452565
|
0.00004
|
NM_022489.4(INF2):c.1183G>A (p.Glu395Lys)
|
rs374769850
|
0.00004
|
NM_022489.4(INF2):c.2084G>A (p.Arg695Gln)
|
rs372333024
|
0.00004
|
NM_022489.4(INF2):c.2101G>A (p.Ala701Thr)
|
rs772557416
|
0.00004
|
NM_022489.4(INF2):c.2418+3G>A
|
rs748896420
|
0.00004
|
NM_022489.4(INF2):c.3133C>T (p.Arg1045Trp)
|
rs780428043
|
0.00004
|
NM_022489.4(INF2):c.3461A>T (p.Asp1154Val)
|
rs753263522
|
0.00004
|
NM_022489.4(INF2):c.3727A>G (p.Lys1243Glu)
|
rs1026924897
|
0.00004
|
NM_025137.4(SPG11):c.6043G>A (p.Asp2015Asn)
|
rs771242219
|
0.00004
|
NM_170707.4(LMNA):c.1255C>T (p.Arg419Cys)
|
rs755686359
|
0.00004
|
NM_170707.4(LMNA):c.467G>A (p.Arg156His)
|
rs764475194
|
0.00004
|
NM_170707.4(LMNA):c.692A>G (p.Asn231Ser)
|
rs760388350
|
0.00004
|
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser)
|
rs765241364
|
0.00004
|
NM_000166.6(GJB1):c.565G>A (p.Val189Ile)
|
rs770116247
|
0.00003
|
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp)
|
rs768554175
|
0.00003
|
NM_000214.3(JAG1):c.3478G>A (p.Asp1160Asn)
|
rs755047447
|
0.00003
|
NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val)
|
rs374848403
|
0.00003
|
NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp)
|
rs749039663
|
0.00003
|
NM_002047.4(GARS1):c.262C>G (p.Gln88Glu)
|
rs201728920
|
0.00003
|
NM_002180.3(IGHMBP2):c.808C>T (p.Arg270Cys)
|
rs201054207
|
0.00003
|
NM_002764.4(PRPS1):c.611G>A (p.Arg204His)
|
rs1169615098
|
0.00003
|
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn)
|
rs377017892
|
0.00003
|
NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser)
|
rs533081002
|
0.00003
|
NM_022489.4(INF2):c.1949+3G>A
|
rs747818846
|
0.00003
|
NM_022489.4(INF2):c.2155G>A (p.Glu719Lys)
|
rs775500020
|
0.00003
|
NM_022489.4(INF2):c.2555G>A (p.Arg852Gln)
|
rs372129830
|
0.00003
|
NM_022489.4(INF2):c.2804C>T (p.Ala935Val)
|
rs781494318
|
0.00003
|
NM_022489.4(INF2):c.2992G>A (p.Gly998Arg)
|
rs747569209
|
0.00003
|
NM_025137.4(SPG11):c.2003A>G (p.Tyr668Cys)
|
rs764762491
|
0.00003
|
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn)
|
rs370656306
|
0.00003
|
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln)
|
rs58105277
|
0.00003
|
NM_170707.4(LMNA):c.1028G>A (p.Arg343Gln)
|
rs61177390
|
0.00003
|
NM_170707.4(LMNA):c.1256G>A (p.Arg419His)
|
rs777648901
|
0.00003
|
NM_170707.4(LMNA):c.1517A>C (p.His506Pro)
|
rs878855233
|
0.00003
|
NM_170707.4(LMNA):c.1756G>A (p.Val586Met)
|
rs758048062
|
0.00003
|
NM_000188.3(HK1):c.949G>A (p.Gly317Ser)
|
rs202028638
|
0.00002
|
NM_000214.3(JAG1):c.1309G>A (p.Asp437Asn)
|
rs758876727
|
0.00002
|
NM_000214.3(JAG1):c.1329G>A (p.Met443Ile)
|
rs547676061
|
0.00002
|
NM_000214.3(JAG1):c.1835A>G (p.Lys612Arg)
|
rs750855317
|
0.00002
|
NM_000214.3(JAG1):c.2792C>T (p.Thr931Ile)
|
rs368032094
|
0.00002
|
NM_000214.3(JAG1):c.2911T>C (p.Ser971Pro)
|
rs750570683
|
0.00002
|
NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys)
|
rs758788135
|
0.00002
|
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp)
|
rs755701957
|
0.00002
|
NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His)
|
rs373663596
|
0.00002
|
NM_001376.5(DYNC1H1):c.4597C>G (p.Leu1533Val)
|
rs775825001
|
0.00002
|
NM_002972.4(SBF1):c.1519C>T (p.Arg507Trp)
|
rs756061176
|
0.00002
|
NM_003172.4(SURF1):c.409C>T (p.Arg137Trp)
|
rs373551988
|
0.00002
|
NM_020631.6(PLEKHG5):c.895T>G (p.Trp299Gly)
|
rs112657733
|
0.00002
|
NM_021625.5(TRPV4):c.1376T>G (p.Leu459Arg)
|
rs201132615
|
0.00002
|
NM_022489.4(INF2):c.1208A>G (p.Glu403Gly)
|
rs1356183663
|
0.00002
|
NM_022489.4(INF2):c.1811G>A (p.Arg604Gln)
|
rs752971046
|
0.00002
|
NM_022489.4(INF2):c.1979G>A (p.Arg660Gln)
|
rs756754311
|
0.00002
|
NM_022489.4(INF2):c.2572G>A (p.Val858Met)
|
rs201292830
|
0.00002
|
NM_022489.4(INF2):c.2891C>G (p.Pro964Arg)
|
rs748286029
|
0.00002
|
NM_170707.4(LMNA):c.-1C>A
|
rs886043355
|
0.00002
|
NM_170707.4(LMNA):c.1187A>T (p.Gln396Leu)
|
rs61693978
|
0.00002
|
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys)
|
rs373584456
|
0.00002
|
NM_170707.4(LMNA):c.1608+10C>T
|
rs748917147
|
0.00002
|
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu)
|
rs59601651
|
0.00002
|
NM_170707.4(LMNA):c.1960C>T (p.Arg654Ter)
|
rs267607544
|
0.00002
|
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr)
|
rs1060502216
|
0.00002
|
NM_170707.4(LMNA):c.566G>A (p.Arg189Gln)
|
rs766856162
|
0.00002
|
NM_170707.4(LMNA):c.647G>A (p.Arg216His)
|
rs757041809
|
0.00002
|
NM_170707.4(LMNA):c.886C>T (p.Arg296Cys)
|
rs375987939
|
0.00002
|
NM_170707.4(LMNA):c.977C>T (p.Ser326Leu)
|
rs745540806
|
0.00002
|
NM_170707.4(LMNA):c.986G>A (p.Arg329His)
|
rs397517913
|
0.00002
|
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys)
|
rs587777879
|
0.00001
|
NM_000214.3(JAG1):c.1270G>A (p.Ala424Thr)
|
rs755648887
|
0.00001
|
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp)
|
rs534533867
|
0.00001
|
NM_000214.3(JAG1):c.2413C>T (p.Arg805Trp)
|
rs1458651228
|
0.00001
|
NM_000214.3(JAG1):c.2615A>G (p.Asp872Gly)
|
rs111706668
|
0.00001
|
NM_000214.3(JAG1):c.2998A>G (p.Ile1000Val)
|
rs773974344
|
0.00001
|
NM_000214.3(JAG1):c.3017C>T (p.Pro1006Leu)
|
rs747142039
|
0.00001
|
NM_000214.3(JAG1):c.3109G>A (p.Asp1037Asn)
|
rs768823146
|
0.00001
|
NM_000214.3(JAG1):c.3287G>A (p.Arg1096Gln)
|
rs2067258057
|
0.00001
|
NM_000214.3(JAG1):c.3506G>A (p.Arg1169Gln)
|
rs1268561604
|
0.00001
|
NM_000214.3(JAG1):c.3562G>A (p.Gly1188Ser)
|
rs1051571820
|
0.00001
|
NM_000214.3(JAG1):c.418G>A (p.Asp140Asn)
|
rs1456733889
|
0.00001
|
NM_000214.3(JAG1):c.860A>G (p.Asn287Ser)
|
rs768317581
|
0.00001
|
NM_000214.3(JAG1):c.868G>A (p.Gly290Ser)
|
rs1412480153
|
0.00001
|
NM_000214.3(JAG1):c.978G>A (p.Glu326=)
|
rs1480738447
|
0.00001
|
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp)
|
rs780527821
|
0.00001
|
NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys)
|
rs199729746
|
0.00001
|
NM_000263.4(NAGLU):c.530G>A (p.Arg177Gln)
|
rs1323850779
|
0.00001
|
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)
|
rs1022583382
|
0.00001
|
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser)
|
rs199692678
|
0.00001
|
NM_001376.5(DYNC1H1):c.9193G>A (p.Val3065Met)
|
rs377668381
|
0.00001
|
NM_001540.5(HSPB1):c.142G>A (p.Gly48Ser)
|
rs546699221
|
0.00001
|
NM_002180.3(IGHMBP2):c.1106T>A (p.Phe369Tyr)
|
rs756791529
|
0.00001
|
NM_002437.5(MPV17):c.283G>A (p.Gly95Ser)
|
rs980207020
|
0.00001
|
NM_002972.4(SBF1):c.3068C>G (p.Thr1023Ser)
|
rs548786259
|
0.00001
|
NM_003680.4(YARS1):c.322A>G (p.Ile108Val)
|
rs1467446637
|
0.00001
|
NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val)
|
rs1375125488
|
0.00001
|
NM_005572.4(LMNA):c.1715G>A (p.Arg572His)
|
rs1158300738
|
0.00001
|
NM_006329.4(FBLN5):c.245A>C (p.Asn82Thr)
|
rs759508064
|
0.00001
|
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys)
|
rs773641701
|
0.00001
|
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser)
|
rs375414729
|
0.00001
|
NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn)
|
rs770149544
|
0.00001
|
NM_021625.5(TRPV4):c.2425G>A (p.Gly809Ser)
|
rs375851168
|
0.00001
|
NM_021625.5(TRPV4):c.2471C>T (p.Ser824Leu)
|
rs764622721
|
0.00001
|
NM_022489.4(INF2):c.1067C>T (p.Ala356Val)
|
rs375622503
|
0.00001
|
NM_022489.4(INF2):c.1189G>A (p.Val397Met)
|
rs771775245
|
0.00001
|
NM_022489.4(INF2):c.1447T>G (p.Ser483Ala)
|
rs1218562289
|
0.00001
|
NM_022489.4(INF2):c.1792G>A (p.Asp598Asn)
|
rs368948089
|
0.00001
|
NM_022489.4(INF2):c.1994C>T (p.Thr665Ile)
|
rs1279137766
|
0.00001
|
NM_022489.4(INF2):c.2843A>C (p.Glu948Ala)
|
rs1473555311
|
0.00001
|
NM_022489.4(INF2):c.2863G>C (p.Glu955Gln)
|
rs1440140886
|
0.00001
|
NM_022489.4(INF2):c.2869G>A (p.Gly957Arg)
|
rs984879135
|
0.00001
|
NM_022489.4(INF2):c.3115A>G (p.Thr1039Ala)
|
rs1316234873
|
0.00001
|
NM_022489.4(INF2):c.3126C>T (p.Ser1042=)
|
rs1035033414
|
0.00001
|
NM_022489.4(INF2):c.3373G>A (p.Gly1125Arg)
|
rs775116734
|
0.00001
|
NM_022489.4(INF2):c.3418G>A (p.Val1140Ile)
|
rs199640596
|
0.00001
|
NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala)
|
rs778879482
|
0.00001
|
NM_022489.4(INF2):c.3625A>G (p.Arg1209Gly)
|
rs989477091
|
0.00001
|
NM_022489.4(INF2):c.3637C>T (p.Arg1213Trp)
|
rs200823300
|
0.00001
|
NM_022489.4(INF2):c.409G>A (p.Val137Met)
|
rs200713451
|
0.00001
|
NM_022489.4(INF2):c.509C>T (p.Thr170Met)
|
rs767698763
|
0.00001
|
NM_022489.4(INF2):c.667G>A (p.Gly223Arg)
|
rs1209201341
|
0.00001
|
NM_022489.4(INF2):c.799G>A (p.Asp267Asn)
|
rs772599038
|
0.00001
|
NM_022489.4(INF2):c.839A>G (p.His280Arg)
|
rs759115381
|
0.00001
|
NM_022489.4(INF2):c.986-9C>G
|
rs761206810
|
0.00001
|
NM_024577.4(SH3TC2):c.224G>A (p.Arg75Gln)
|
rs749772988
|
0.00001
|
NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val)
|
rs1463859150
|
0.00001
|
NM_024577.4(SH3TC2):c.559G>A (p.Val187Met)
|
rs745613768
|
0.00001
|
NM_025137.4(SPG11):c.4702G>A (p.Ala1568Thr)
|
rs767343843
|
0.00001
|
NM_025137.4(SPG11):c.6458G>T (p.Ser2153Ile)
|
rs543344637
|
0.00001
|
NM_025137.4(SPG11):c.7326del (p.Gly2443fs)
|
rs751228307
|
0.00001
|
NM_030962.4(SBF2):c.854A>G (p.His285Arg)
|
rs146971151
|
0.00001
|
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)
|
rs749784223
|
0.00001
|
NM_170707.4(LMNA):c.1044G>T (p.Met348Ile)
|
rs587777892
|
0.00001
|
NM_170707.4(LMNA):c.1184C>T (p.Ser395Leu)
|
rs267607561
|
0.00001
|
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys)
|
rs727504852
|
0.00001
|
NM_170707.4(LMNA):c.1280G>A (p.Arg427His)
|
rs747139279
|
0.00001
|
NM_170707.4(LMNA):c.1282A>G (p.Ser428Gly)
|
rs1651628416
|
0.00001
|
NM_170707.4(LMNA):c.1300G>A (p.Ala434Thr)
|
rs748433620
|
0.00001
|
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala)
|
rs876657849
|
0.00001
|
NM_170707.4(LMNA):c.1363C>T (p.Arg455Cys)
|
rs397517892
|
0.00001
|
NM_170707.4(LMNA):c.1364G>A (p.Arg455His)
|
rs267607597
|
0.00001
|
NM_170707.4(LMNA):c.1381G>T (p.Asp461Tyr)
|
rs267607642
|
0.00001
|
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)
|
rs200466188
|
0.00001
|
NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser)
|
rs144740174
|
0.00001
|
NM_170707.4(LMNA):c.1750C>T (p.Arg584Cys)
|
rs578193315
|
0.00001
|
NM_170707.4(LMNA):c.1751G>A (p.Arg584His)
|
rs56657623
|
0.00001
|
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg)
|
rs786205448
|
0.00001
|
NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg)
|
rs397517898
|
0.00001
|
NM_170707.4(LMNA):c.187A>C (p.Ile63Leu)
|
rs899373360
|
0.00001
|
NM_170707.4(LMNA):c.1880G>A (p.Arg627His)
|
rs745997478
|
0.00001
|
NM_170707.4(LMNA):c.1891G>A (p.Gly631Ser)
|
rs951584348
|
0.00001
|
NM_170707.4(LMNA):c.293A>G (p.Glu98Gly)
|
rs1441670218
|
0.00001
|
NM_170707.4(LMNA):c.466C>T (p.Arg156Cys)
|
rs760743233
|
0.00001
|
NM_170707.4(LMNA):c.496C>T (p.Arg166Trp)
|
rs370200334
|
0.00001
|
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp)
|
rs267607626
|
0.00001
|
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu)
|
rs1016767319
|
0.00001
|
NM_170707.4(LMNA):c.71C>T (p.Thr24Ile)
|
rs1195524446
|
0.00001
|
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)
|
rs397517907
|
0.00001
|
NM_170707.4(LMNA):c.845G>A (p.Ser282Asn)
|
rs1553265438
|
0.00001
|
NM_000214.3(JAG1):c.-75A>G
|
rs1208905634
|
|
NM_000214.3(JAG1):c.1205C>G (p.Pro402Arg)
|
rs144204614
|
|
NM_000214.3(JAG1):c.1393C>T (p.Arg465Trp)
|
rs937263997
|
|
NM_000214.3(JAG1):c.1465G>A (p.Asp489Asn)
|
rs370107709
|
|
NM_000214.3(JAG1):c.2050G>A (p.Asp684Asn)
|
rs933125751
|
|
NM_000214.3(JAG1):c.2312A>C (p.Lys771Thr)
|
rs149949294
|
|
NM_000214.3(JAG1):c.2758A>T (p.Ile920Phe)
|
rs1252730791
|
|
NM_000214.3(JAG1):c.3007G>A (p.Glu1003Lys)
|
rs781509375
|
|
NM_000214.3(JAG1):c.3127G>A (p.Asp1043Asn)
|
rs1278689263
|
|
NM_000214.3(JAG1):c.314A>G (p.Asn105Ser)
|
rs1568806951
|
|
NM_000214.3(JAG1):c.322A>C (p.Asn108His)
|
rs1242473299
|
|
NM_000214.3(JAG1):c.323A>T (p.Asn108Ile)
|
rs2067505956
|
|
NM_000214.3(JAG1):c.3287_3295del (p.Arg1096_Lys1098del)
|
rs771530161
|
|
NM_000214.3(JAG1):c.331G>A (p.Ala111Thr)
|
rs763966262
|
|
NM_000214.3(JAG1):c.3329A>G (p.Asn1110Ser)
|
rs150811951
|
|
NM_000214.3(JAG1):c.349C>G (p.Arg117Gly)
|
rs752608779
|
|
NM_000214.3(JAG1):c.3637C>T (p.Arg1213Ter)
|
rs769276255
|
|
NM_000214.3(JAG1):c.56C>T (p.Ala19Val)
|
rs886043988
|
|
NM_000214.3(JAG1):c.86G>C (p.Cys29Ser)
|
rs1434161643
|
|
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser)
|
rs764815033
|
|
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu)
|
rs1341421909
|
|
NM_001005361.3(DNM2):c.695T>C (p.Ile232Thr)
|
rs749672066
|
|
NM_001005373.4(LRSAM1):c.2036T>C (p.Leu679Pro)
|
rs1564286814
|
|
NM_001376.5(DYNC1H1):c.10354G>A (p.Ala3452Thr)
|
rs1555411400
|
|
NM_001376.5(DYNC1H1):c.1085C>T (p.Thr362Ile)
|
rs1818621543
|
|
NM_001376.5(DYNC1H1):c.11543G>A (p.Gly3848Asp)
|
rs754712755
|
|
NM_001376.5(DYNC1H1):c.3803C>T (p.Thr1268Met)
|
rs751865408
|
|
NM_001376.5(DYNC1H1):c.5165C>T (p.Thr1722Met)
|
rs1555409563
|
|
NM_001376.5(DYNC1H1):c.5347A>G (p.Ser1783Gly)
|
rs773630385
|
|
NM_001376.5(DYNC1H1):c.9607G>A (p.Val3203Met)
|
rs1567017825
|
|
NM_001376.5(DYNC1H1):c.9642+4C>T
|
rs773101138
|
|
NM_001377137.1(GBF1):c.2732_2733del (p.Pro911fs)
|
rs2060017974
|
|
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr)
|
rs367857772
|
|
NM_002047.4(GARS1):c.1186G>A (p.Val396Ile)
|
rs1060502836
|
|
NM_002764.4(PRPS1):c.334G>A (p.Val112Ile)
|
rs2147682370
|
|
NM_003680.4(YARS1):c.1571G>C (p.Gly524Ala)
|
rs201687117
|
|
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys)
|
rs80338938
|
|
NM_006096.4(NDRG1):c.1109C>G (p.Ala370Gly)
|
rs367925853
|
|
NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp)
|
rs1554497573
|
|
NM_006158.5(NEFL):c.986T>C (p.Leu329Pro)
|
rs876661290
|
|
NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro)
|
rs377619541
|
|
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr)
|
rs3739168
|
|
NM_014874.4(MFN2):c.271G>A (p.Val91Met)
|
rs1557519001
|
|
NM_021625.5(TRPV4):c.569C>T (p.Thr190Met)
|
rs1031096826
|
|
NM_022489.4(INF2):c.1126A>T (p.Thr376Ser)
|
rs376942822
|
|
NM_022489.4(INF2):c.1226C>T (p.Ser409Leu)
|
rs1486781241
|
|
NM_022489.4(INF2):c.1262CACCCC[1] (p.Pro423_Pro428del)
|
rs573567814
|
|
NM_022489.4(INF2):c.1262CACCCC[5] (p.Pro427_Pro428dup)
|
rs573567814
|
|
NM_022489.4(INF2):c.1280C>T (p.Pro427Leu)
|
rs1889838927
|
|
NM_022489.4(INF2):c.1308G>T (p.Glu436Asp)
|
rs1566781633
|
|
NM_022489.4(INF2):c.1310C>T (p.Pro437Leu)
|
rs746697423
|
|
NM_022489.4(INF2):c.1376_1387del (p.Pro459_Pro462del)
|
rs1443005224
|
|
NM_022489.4(INF2):c.1421CTC[1] (p.Pro475del)
|
rs1325744353
|
|
NM_022489.4(INF2):c.1466C>T (p.Pro489Leu)
|
rs1438965620
|
|
NM_022489.4(INF2):c.1493G>T (p.Gly498Val)
|
rs2140669360
|
|
NM_022489.4(INF2):c.1571G>C (p.Cys524Ser)
|
rs2140669651
|
|
NM_022489.4(INF2):c.1582C>G (p.Pro528Ala)
|
rs181694819
|
|
NM_022489.4(INF2):c.2100C>A (p.Ser700Arg)
|
rs377281840
|
|
NM_022489.4(INF2):c.2726C>A (p.Thr909Lys)
|
rs201336550
|
|
NM_022489.4(INF2):c.2749C>T (p.Arg917Trp)
|
rs778308700
|
|
NM_022489.4(INF2):c.2788C>G (p.Arg930Gly)
|
rs764687744
|
|
NM_022489.4(INF2):c.2846C>T (p.Ala949Val)
|
rs912951002
|
|
NM_022489.4(INF2):c.3122C>G (p.Ala1041Gly)
|
rs770095888
|
|
NM_022489.4(INF2):c.3257T>C (p.Leu1086Pro)
|
rs368869709
|
|
NM_022489.4(INF2):c.3519C>G (p.Asp1173Glu)
|
rs767075044
|
|
NM_022489.4(INF2):c.3614G>A (p.Gly1205Asp)
|
rs956685612
|
|
NM_022489.4(INF2):c.3643_3653del (p.Ser1215fs)
|
rs762985148
|
|
NM_022489.4(INF2):c.3729_3732del (p.Lys1243fs)
|
rs1566787039
|
|
NM_022489.4(INF2):c.494T>C (p.Leu165Pro)
|
rs1595165937
|
|
NM_022489.4(INF2):c.685G>A (p.Val229Ile)
|
rs752058170
|
|
NM_022489.4(INF2):c.760G>A (p.Glu254Lys)
|
rs1595169407
|
|
NM_022489.4(INF2):c.994T>G (p.Cys332Gly)
|
rs1399811407
|
|
NM_024577.4(SH3TC2):c.3512G>A (p.Arg1171His)
|
rs200728983
|
|
NM_025137.4(SPG11):c.4804G>A (p.Val1602Met)
|
rs754536969
|
|
NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp)
|
rs1237093879
|
|
NM_170707.4(LMNA):c.1232G>A (p.Gly411Asp)
|
rs267607647
|
|
NM_170707.4(LMNA):c.1234G>T (p.Gly412Trp)
|
rs966050612
|
|
NM_170707.4(LMNA):c.1237G>T (p.Gly413Cys)
|
rs766811975
|
|
NM_170707.4(LMNA):c.1286G>A (p.Ser429Asn)
|
rs1385994420
|
|
NM_170707.4(LMNA):c.1287C>G (p.Ser429Arg)
|
rs1651629254
|
|
NM_170707.4(LMNA):c.1453C>G (p.Pro485Ala)
|
rs886042993
|
|
NM_170707.4(LMNA):c.161C>T (p.Thr54Met)
|
rs879253992
|
|
NM_170707.4(LMNA):c.1655A>C (p.Asp552Ala)
|
rs1651785654
|
|
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu)
|
rs57830985
|
|
NM_170707.4(LMNA):c.1873_1874delinsCC (p.Ser625Pro)
|
rs1553266553
|
|
NM_170707.4(LMNA):c.1971C>A (p.Ser657Arg)
|
rs1023544978
|
|
NM_170707.4(LMNA):c.244G>C (p.Glu82Gln)
|
rs59270054
|
|
NM_170707.4(LMNA):c.268A>G (p.Lys90Glu)
|
rs1445068583
|
|
NM_170707.4(LMNA):c.272C>T (p.Thr91Ile)
|
rs1306829976
|
|
NM_170707.4(LMNA):c.286G>T (p.Ala96Ser)
|
rs1553262000
|
|
NM_170707.4(LMNA):c.326T>A (p.Val109Glu)
|
rs1649740041
|
|
NM_170707.4(LMNA):c.356G>T (p.Arg119Leu)
|
rs397517902
|
|
NM_170707.4(LMNA):c.47C>A (p.Ala16Asp)
|
rs770799870
|
|
NM_170707.4(LMNA):c.483G>A (p.Glu161=)
|
rs1553264647
|
|
NM_170707.4(LMNA):c.511A>G (p.Lys171Glu)
|
rs1650991296
|
|
NM_170707.4(LMNA):c.610C>G (p.Leu204Val)
|
rs1553265177
|
|
NM_170707.4(LMNA):c.689A>G (p.Asp230Gly)
|
rs773349450
|
|
NM_170707.4(LMNA):c.760G>A (p.Asp254Asn)
|
rs1553265346
|
|
NM_170707.4(LMNA):c.762C>A (p.Asp254Glu)
|
rs1558129629
|
|
NM_170707.4(LMNA):c.787C>A (p.Leu263Met)
|
rs750246389
|
|
NM_170707.4(LMNA):c.853G>T (p.Val285Leu)
|
rs746056534
|
|
NM_170707.4(LMNA):c.878A>T (p.Gln293Leu)
|
rs1651454980
|
|
NM_170707.4(LMNA):c.893G>T (p.Arg298Leu)
|
rs762653476
|
|
NM_170707.4(LMNA):c.940G>A (p.Ala314Thr)
|
rs769498020
|
|