NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_181882.3(PRX):c.892C>T (p.Pro298Ser)
|
rs185112635
|
0.00262
|
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)
|
rs143032801
|
0.00173
|
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu)
|
rs147674615
|
0.00144
|
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala)
|
rs141649676
|
0.00133
|
NM_024577.4(SH3TC2):c.73G>T (p.Asp25Tyr)
|
rs10066882
|
0.00128
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln)
|
rs149824485
|
0.00108
|
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)
|
rs139192433
|
0.00108
|
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn)
|
rs139188673
|
0.00105
|
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu)
|
rs200967041
|
0.00088
|
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala)
|
rs148634904
|
0.00086
|
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala)
|
rs141686828
|
0.00078
|
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp)
|
rs138081804
|
0.00072
|
NM_001605.3(AARS1):c.2580G>A (p.Leu860=)
|
rs145581652
|
0.00065
|
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly)
|
rs148095551
|
0.00065
|
NM_001005373.4(LRSAM1):c.814C>T (p.Arg272Trp)
|
rs149456922
|
0.00063
|
NM_024577.4(SH3TC2):c.1483A>G (p.Thr495Ala)
|
rs10077543
|
0.00063
|
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_018972.4(GDAP1):c.459G>A (p.Pro153=)
|
rs149804782
|
0.00057
|
NM_006096.4(NDRG1):c.122A>G (p.His41Arg)
|
rs2233318
|
0.00054
|
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)
|
rs141894081
|
0.00054
|
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu)
|
rs141594765
|
0.00053
|
NM_016156.6(MTMR2):c.1336G>A (p.Glu446Lys)
|
rs146572467
|
0.00053
|
NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val)
|
rs142451273
|
0.00051
|
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_024577.4(SH3TC2):c.2990G>A (p.Arg997Gln)
|
rs140307699
|
0.00047
|
NM_001365951.3(KIF1B):c.2551T>A (p.Leu851Met)
|
rs139572764
|
0.00046
|
NM_001005373.4(LRSAM1):c.586G>A (p.Gly196Ser)
|
rs148059394
|
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_024577.4(SH3TC2):c.2812C>T (p.His938Tyr)
|
rs144688852
|
0.00043
|
NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu)
|
rs142153571
|
0.00041
|
NM_030973.4(MED25):c.1677G>C (p.Met559Ile)
|
rs369006637
|
0.00041
|
NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)
|
rs121908162
|
0.00040
|
NM_001365951.3(KIF1B):c.2827G>A (p.Ala943Thr)
|
rs142567076
|
0.00037
|
NM_002180.3(IGHMBP2):c.2872A>G (p.Asn958Asp)
|
rs141873613
|
0.00037
|
NM_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu)
|
rs61731907
|
0.00036
|
NM_030973.4(MED25):c.135-6T>G
|
rs199743509
|
0.00036
|
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_001605.3(AARS1):c.2222C>T (p.Thr741Met)
|
rs148383122
|
0.00030
|
NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys)
|
rs139217120
|
0.00029
|
NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys)
|
rs141108330
|
0.00029
|
NM_181882.3(PRX):c.361C>T (p.Arg121Trp)
|
rs750435566
|
0.00029
|
NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser)
|
rs144963732
|
0.00028
|
NM_024577.4(SH3TC2):c.385+3A>G
|
rs184593694
|
0.00026
|
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_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala)
|
rs200561798
|
0.00022
|
NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu)
|
rs141903179
|
0.00022
|
NM_181882.3(PRX):c.3580C>G (p.Leu1194Val)
|
rs149732789
|
0.00022
|
NM_001136472.2(LITAF):c.302A>G (p.Lys101Arg)
|
rs201283647
|
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.368G>A (p.Arg123His)
|
rs148538950
|
0.00019
|
NM_000371.4(TTR):c.371G>A (p.Arg124His)
|
rs121918095
|
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_004990.4(MARS1):c.352C>T (p.Arg118Trp)
|
rs151196994
|
0.00019
|
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln)
|
rs140234726
|
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_001605.3(AARS1):c.1019A>G (p.Asn340Ser)
|
rs140135726
|
0.00018
|
NM_030973.4(MED25):c.247C>G (p.Gln83Glu)
|
rs143148835
|
0.00018
|
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_181882.3(PRX):c.3656C>T (p.Pro1219Leu)
|
rs201393544
|
0.00017
|
NM_002180.3(IGHMBP2):c.1015C>T (p.Leu339Phe)
|
rs149045005
|
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.3127A>G (p.Ile1043Val)
|
rs147438385
|
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_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.1976C>T (p.Ser659Leu)
|
rs779715512
|
0.00015
|
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)
|
rs61094188
|
0.00015
|
NM_001605.3(AARS1):c.1108A>G (p.Met370Val)
|
rs199976742
|
0.00014
|
NM_002047.4(GARS1):c.301C>T (p.Arg101Cys)
|
rs746056671
|
0.00014
|
NM_014874.4(MFN2):c.474+4A>G
|
rs141974160
|
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_024577.4(SH3TC2):c.1607G>A (p.Arg536Gln)
|
rs369977771
|
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_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.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_001365951.3(KIF1B):c.4298C>T (p.Pro1433Leu)
|
rs552529704
|
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_001370298.3(FGD4):c.506C>T (p.Ser169Leu)
|
rs143251785
|
0.00011
|
NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val)
|
rs199586231
|
0.00011
|
NM_030962.4(SBF2):c.4712A>G (p.Asn1571Ser)
|
rs371960255
|
0.00011
|
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_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.842G>C (p.Cys281Ser)
|
rs147136530
|
0.00010
|
NM_024577.4(SH3TC2):c.3413G>A (p.Ser1138Asn)
|
rs150805608
|
0.00010
|
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_002047.4(GARS1):c.19G>T (p.Val7Leu)
|
rs201132307
|
0.00009
|
NM_005391.5(PDK3):c.341A>C (p.Lys114Thr)
|
rs146331370
|
0.00009
|
NM_006415.4(SPTLC1):c.1168C>T (p.Leu390Phe)
|
rs369803886
|
0.00009
|
NM_001136472.2(LITAF):c.268C>T (p.Arg90Cys)
|
rs375665454
|
0.00008
|
NM_004990.4(MARS1):c.1340G>A (p.Ser447Asn)
|
rs748377952
|
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_024577.4(SH3TC2):c.1163C>T (p.Pro388Leu)
|
rs146364285
|
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_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_016156.6(MTMR2):c.894A>T (p.Glu298Asp)
|
rs200898934
|
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_181882.3(PRX):c.922A>G (p.Thr308Ala)
|
rs753330520
|
0.00007
|
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_002047.4(GARS1):c.764C>T (p.Ala255Val)
|
rs765478968
|
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_004990.4(MARS1):c.699T>G (p.Ile233Met)
|
rs201597392
|
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_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.2492G>A (p.Ser831Asn)
|
rs375034766
|
0.00006
|
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln)
|
rs138592977
|
0.00006
|
NM_181882.3(PRX):c.1828G>A (p.Glu610Lys)
|
rs537664679
|
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.839C>T (p.Pro280Leu)
|
rs557355077
|
0.00006
|
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)
|
rs202176679
|
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_002180.3(IGHMBP2):c.1795G>A (p.Val599Met)
|
rs199770424
|
0.00005
|
NM_002180.3(IGHMBP2):c.2869A>G (p.Lys957Glu)
|
rs370985388
|
0.00005
|
NM_004990.4(MARS1):c.2024C>G (p.Thr675Ser)
|
rs776411681
|
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_181882.3(PRX):c.3239G>A (p.Arg1080His)
|
rs762213719
|
0.00005
|
NM_181882.3(PRX):c.3809G>A (p.Arg1270His)
|
rs775221457
|
0.00005
|
NM_000166.6(GJB1):c.637A>G (p.Ile213Val)
|
rs753503984
|
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.992C>T (p.Thr331Met)
|
rs775480266
|
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_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_002180.3(IGHMBP2):c.1340C>G (p.Ala447Gly)
|
rs144240271
|
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_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_006415.4(SPTLC1):c.388G>T (p.Val130Leu)
|
rs200773661
|
0.00004
|
NM_006736.6(DNAJB2):c.674C>T (p.Pro225Leu)
|
rs540759977
|
0.00004
|
NM_014874.4(MFN2):c.58C>T (p.His20Tyr)
|
rs201715603
|
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.205A>C (p.Met69Leu)
|
rs200199102
|
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.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_030973.4(MED25):c.4G>C (p.Val2Leu)
|
rs780512266
|
0.00004
|
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser)
|
rs765241364
|
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.4301G>A (p.Arg1434Gln)
|
rs759435622
|
0.00004
|
NM_181882.3(PRX):c.4333A>G (p.Thr1445Ala)
|
rs368067072
|
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_001365951.3(KIF1B):c.3043G>A (p.Ala1015Thr)
|
rs200614254
|
0.00003
|
NM_001365951.3(KIF1B):c.3824C>G (p.Thr1275Arg)
|
rs749610931
|
0.00003
|
NM_001540.5(HSPB1):c.372C>G (p.His124Gln)
|
rs145243219
|
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_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met)
|
rs1225363387
|
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_006736.6(DNAJB2):c.493C>T (p.Arg165Cys)
|
rs544935330
|
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_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.229C>T (p.Arg77Trp)
|
rs185149793
|
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_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.2816C>T (p.Ser939Leu)
|
rs761769929
|
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_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_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.2398G>A (p.Gly800Ser)
|
rs751122806
|
0.00002
|
NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro)
|
rs148605058
|
0.00002
|
NM_002180.3(IGHMBP2):c.551C>T (p.Pro184Leu)
|
rs754681347
|
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.2294C>T (p.Ala765Val)
|
rs559255944
|
0.00002
|
NM_004990.4(MARS1):c.331G>C (p.Glu111Gln)
|
rs376785642
|
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_006158.5(NEFL):c.*2C>A
|
rs754312148
|
0.00002
|
NM_006415.4(SPTLC1):c.1019C>T (p.Ser340Leu)
|
rs371203080
|
0.00002
|
NM_014874.4(MFN2):c.538A>C (p.Ser180Arg)
|
rs756851126
|
0.00002
|
NM_016156.6(MTMR2):c.139T>C (p.Ser47Pro)
|
rs372095826
|
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.183C>T (p.Gly61=)
|
rs773744592
|
0.00002
|
NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys)
|
rs372583866
|
0.00002
|
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala)
|
rs146304351
|
0.00002
|
NM_024577.4(SH3TC2):c.1096A>G (p.Thr366Ala)
|
rs772832716
|
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_030962.4(SBF2):c.3109C>T (p.Arg1037Cys)
|
rs770723203
|
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.557G>A (p.Arg186Gln)
|
rs1376475717
|
0.00002
|
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)
|
rs121912493
|
0.00002
|
NM_170707.4(LMNA):c.647G>A (p.Arg216His)
|
rs757041809
|
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.2908C>T (p.Arg970Trp)
|
rs369224308
|
0.00002
|
NM_181882.3(PRX):c.2999C>T (p.Ala1000Val)
|
rs765924621
|
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.790C>T (p.Arg264Cys)
|
rs587777879
|
0.00001
|
NM_000304.4(PMP22):c.397G>A (p.Gly133Ser)
|
rs140763467
|
0.00001
|
NM_000530.8(MPZ):c.200G>A (p.Arg67His)
|
rs201720099
|
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.362G>A (p.Arg121His)
|
rs143910539
|
0.00001
|
NM_001005373.4(LRSAM1):c.604C>G (p.Gln202Glu)
|
rs746274685
|
0.00001
|
NM_001136472.2(LITAF):c.269G>A (p.Arg90His)
|
rs200789696
|
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.5332C>G (p.Leu1778Val)
|
rs866755197
|
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.1502G>C (p.Arg501Thr)
|
rs755934741
|
0.00001
|
NM_001370298.3(FGD4):c.2041G>A (p.Val681Ile)
|
rs753988910
|
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.11803G>A (p.Val3935Met)
|
rs770188348
|
0.00001
|
NM_001376.5(DYNC1H1):c.12250A>G (p.Ile4084Val)
|
rs992393537
|
0.00001
|
NM_001376.5(DYNC1H1):c.4264G>A (p.Val1422Ile)
|
rs760230019
|
0.00001
|
NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp)
|
rs376901405
|
0.00001
|
NM_001540.5(HSPB1):c.349G>A (p.Val117Met)
|
rs1803031652
|
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.1429A>G (p.Lys477Glu)
|
rs1287718221
|
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.1547G>A (p.Arg516His)
|
rs373017768
|
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.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_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+3A>T
|
rs1205318968
|
0.00001
|
NM_004990.4(MARS1):c.1430A>G (p.Asn477Ser)
|
rs778085997
|
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_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.706G>A (p.Asp236Asn)
|
rs1337832950
|
0.00001
|
NM_006158.5(NEFL):c.235A>G (p.Ile79Val)
|
rs765260132
|
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.1259T>C (p.Met420Thr)
|
rs376427329
|
0.00001
|
NM_006415.4(SPTLC1):c.1385C>A (p.Ser462Tyr)
|
rs150792865
|
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_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.1949-10T>G
|
rs896444437
|
0.00001
|
NM_014845.6(FIG4):c.202G>A (p.Gly68Ser)
|
rs745860370
|
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.946A>G (p.Lys316Glu)
|
rs1424551887
|
0.00001
|
NM_016156.6(MTMR2):c.1770+3A>G
|
rs756909627
|
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.184G>A (p.Asp62Asn)
|
rs770149544
|
0.00001
|
NM_021625.5(TRPV4):c.2042G>A (p.Gly681Asp)
|
rs766420746
|
0.00001
|
NM_021625.5(TRPV4):c.20G>A (p.Gly7Asp)
|
rs1213728059
|
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_024577.4(SH3TC2):c.1002-5T>A
|
rs769711653
|
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.2581C>T (p.Arg861Trp)
|
rs147490172
|
0.00001
|
NM_024577.4(SH3TC2):c.279+4A>G
|
rs371909418
|
0.00001
|
NM_024577.4(SH3TC2):c.2818C>A (p.Leu940Ile)
|
rs1380115510
|
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.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_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.1563A>G (p.Ile521Met)
|
rs770392081
|
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.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.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.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.1303C>T (p.Arg435Cys)
|
rs150840924
|
0.00001
|
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)
|
rs267607613
|
0.00001
|
NM_170707.4(LMNA):c.1961G>A (p.Arg654Gln)
|
rs768986279
|
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.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.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.501G>T (p.Lys167Asn)
|
rs766201464
|
|
NM_000166.6(GJB1):c.573C>T (p.Thr191=)
|
rs776040132
|
|
NM_000304.4(PMP22):c.238CTGTTC[1] (p.80LF[1])
|
rs1907117054
|
|
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.467T>C (p.Leu156Ser)
|
rs1906257962
|
|
NM_000371.4(TTR):c.11A>T (p.His4Leu)
|
rs1157253322
|
|
NM_000399.5(EGR2):c.1183G>C (p.Glu395Gln)
|
rs1842165681
|
|
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.149G>C (p.Cys50Ser)
|
rs876661287
|
|
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.271G>A (p.Glu91Lys)
|
rs1383238492
|
|
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.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.659A>G (p.Tyr220Cys)
|
rs767339597
|
|
NM_000530.8(MPZ):c.68-3C>A
|
rs1182729605
|
|
NM_000530.8(MPZ):c.704A>G (p.Lys235Arg)
|
rs1670224859
|
|
NM_001005373.4(LRSAM1):c.1261A>G (p.Met421Val)
|
rs1835780785
|
|
NM_001005373.4(LRSAM1):c.1419C>A (p.Ser473Arg)
|
rs1345645228
|
|
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.2087G>A (p.Cys696Tyr)
|
rs1588144651
|
|
NM_001005373.4(LRSAM1):c.253-9C>A
|
rs199925705
|
|
NM_001136472.2(LITAF):c.199C>T (p.Pro67Ser)
|
rs2064271547
|
|
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.1427G>T (p.Arg476Leu)
|
rs896518063
|
|
NM_001365951.3(KIF1B):c.1629G>T (p.Met543Ile)
|
rs1650197606
|
|
NM_001365951.3(KIF1B):c.183A>G (p.Ser61=)
|
rs756935623
|
|
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.3229C>T (p.Pro1077Ser)
|
rs1652211900
|
|
NM_001365951.3(KIF1B):c.3892A>G (p.Ile1298Val)
|
rs529804940
|
|
NM_001365951.3(KIF1B):c.4409C>T (p.Ala1470Val)
|
rs868357926
|
|
NM_001365951.3(KIF1B):c.5231T>C (p.Ile1744Thr)
|
rs757828399
|
|
NM_001365951.3(KIF1B):c.710C>T (p.Ser237Phe)
|
rs775958513
|
|
NM_001365951.3(KIF1B):c.959-16T>A
|
rs1206994711
|
|
NM_001376.5(DYNC1H1):c.12651T>G (p.Asp4217Glu)
|
rs2048684224
|
|
NM_001376.5(DYNC1H1):c.13609G>A (p.Glu4537Lys)
|
rs2048779548
|
|
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.5580A>T (p.Gln1860His)
|
rs1399321780
|
|
NM_001376.5(DYNC1H1):c.702T>G (p.Asp234Glu)
|
rs769311346
|
|
NM_001540.5(HSPB1):c.365-6C>G
|
rs200902768
|
|
NM_001540.5(HSPB1):c.368A>C (p.Lys123Thr)
|
rs1455898327
|
|
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_002047.4(GARS1):c.1426A>T (p.Thr476Ser)
|
rs1783005436
|
|
NM_002047.4(GARS1):c.2206A>C (p.Thr736Pro)
|
rs1785775131
|
|
NM_002180.3(IGHMBP2):c.1448A>T (p.Glu483Val)
|
rs1859413172
|
|
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.2492G>C (p.Arg831Thr)
|
rs1859566434
|
|
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.338C>T (p.Ser113Leu)
|
rs147001168
|
|
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.728C>G (p.Pro243Arg)
|
rs1858584931
|
|
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_004990.4(MARS1):c.1189G>A (p.Ala397Thr)
|
rs1594821331
|
|
NM_004990.4(MARS1):c.1234G>A (p.Glu412Lys)
|
rs1876868867
|
|
NM_004990.4(MARS1):c.1427C>A (p.Pro476His)
|
rs752787612
|
|
NM_004990.4(MARS1):c.2605G>C (p.Val869Leu)
|
rs1877841043
|
|
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.467C>T (p.Thr156Ile)
|
rs1602114620
|
|
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.448G>T (p.Ala150Ser)
|
rs150796527
|
|
NM_006096.4(NDRG1):c.895G>A (p.Ala299Thr)
|
rs1855416179
|
|
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.1123C>T (p.Leu375Phe)
|
rs1803010527
|
|
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.304G>T (p.Ala102Ser)
|
rs1323026981
|
|
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro)
|
rs1554497641
|
|
NM_006158.5(NEFL):c.44A>C (p.Lys15Thr)
|
rs776351925
|
|
NM_006158.5(NEFL):c.509C>G (p.Thr170Ser)
|
rs541360328
|
|
NM_006415.4(SPTLC1):c.100T>G (p.Trp34Gly)
|
rs199606270
|
|
NM_006415.4(SPTLC1):c.1302AGA[1] (p.Glu436del)
|
rs777170186
|
|
NM_006415.4(SPTLC1):c.442T>G (p.Leu148Val)
|
rs376342795
|
|
NM_006415.4(SPTLC1):c.640A>C (p.Met214Leu)
|
rs781435924
|
|
NM_006736.6(DNAJB2):c.868C>G (p.Gln290Glu)
|
rs773564082
|
|
NM_006736.6(DNAJB2):c.89G>A (p.Trp30Ter)
|
rs1951895452
|
|
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.1835C>T (p.Thr612Ile)
|
rs780595685
|
|
NM_014845.6(FIG4):c.1879A>G (p.Thr627Ala)
|
rs762859144
|
|
NM_014845.6(FIG4):c.2116G>T (p.Val706Phe)
|
rs754830354
|
|
NM_014845.6(FIG4):c.2327C>G (p.Ser776Cys)
|
rs760215765
|
|
NM_014845.6(FIG4):c.2441A>T (p.Asp814Val)
|
rs1778168177
|
|
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser)
|
rs571563767
|
|
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.159C>G (p.Ser53Arg)
|
rs61733200
|
|
NM_014874.4(MFN2):c.176-3C>T
|
rs975369655
|
|
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.292A>G (p.Lys98Glu)
|
rs1553141706
|
|
NM_014874.4(MFN2):c.467G>T (p.Ser156Ile)
|
rs1557521949
|
|
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.757A>T (p.Ile253Phe)
|
rs1639057845
|
|
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.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.1915G>T (p.Val639Phe)
|
rs1356220463
|
|
NM_016156.6(MTMR2):c.56C>T (p.Pro19Leu)
|
rs574213477
|
|
NM_018972.4(GDAP1):c.207G>A (p.Met69Ile)
|
rs770714080
|
|
NM_018972.4(GDAP1):c.28G>A (p.Gly10Arg)
|
rs1808794425
|
|
NM_018972.4(GDAP1):c.4G>A (p.Ala2Thr)
|
rs1808792150
|
|
NM_018972.4(GDAP1):c.677G>A (p.Arg226Lys)
|
rs1586806242
|
|
NM_021625.5(TRPV4):c.1039G>A (p.Asp347Asn)
|
rs1006063188
|
|
NM_021625.5(TRPV4):c.1337G>A (p.Arg446His)
|
rs143502097
|
|
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.2524G>A (p.Val842Met)
|
rs1255642563
|
|
NM_021625.5(TRPV4):c.403C>T (p.Pro135Ser)
|
rs754155333
|
|
NM_021625.5(TRPV4):c.712+1G>T
|
rs1449705702
|
|
NM_021625.5(TRPV4):c.796G>C (p.Ala266Pro)
|
rs752366465
|
|
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val)
|
rs139653980
|
|
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.1583C>T (p.Ala528Val)
|
rs537134516
|
|
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.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.2554G>A (p.Val852Met)
|
rs1754081317
|
|
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.3204+5G>A
|
rs1753801589
|
|
NM_024577.4(SH3TC2):c.3773A>G (p.Asp1258Gly)
|
rs1753657973
|
|
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.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.793T>A (p.Ser265Thr)
|
rs1580909284
|
|
NM_030962.4(SBF2):c.1045A>G (p.Lys349Glu)
|
rs746685729
|
|
NM_030962.4(SBF2):c.1632C>A (p.Phe544Leu)
|
rs777289065
|
|
NM_030962.4(SBF2):c.266A>C (p.Glu89Ala)
|
rs1949706329
|
|
NM_030962.4(SBF2):c.3383G>A (p.Gly1128Asp)
|
rs1855965122
|
|
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.5017GAA[1] (p.Glu1674del)
|
rs572571832
|
|
NM_030962.4(SBF2):c.861+5G>C
|
rs879253963
|
|
NM_030973.4(MED25):c.107G>A (p.Arg36His)
|
rs1555800954
|
|
NM_030973.4(MED25):c.1594G>A (p.Gly532Ser)
|
rs964471885
|
|
NM_030973.4(MED25):c.1889C>T (p.Pro630Leu)
|
rs775342932
|
|
NM_030973.4(MED25):c.249A>C (p.Gln83His)
|
rs1291395600
|
|
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.1639G>A (p.Val547Met)
|
rs201947393
|
|
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.1490_1491delinsTG (p.Pro497Leu)
|
rs2079443969
|
|
NM_181882.3(PRX):c.158C>A (p.Ala53Asp)
|
rs753322071
|
|
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.17G>T (p.Arg6Leu)
|
rs774078598
|
|
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.2628G>A (p.Met876Ile)
|
rs1307077953
|
|
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.3011C>T (p.Ser1004Leu)
|
rs996865233
|
|
NM_181882.3(PRX):c.3190C>T (p.Pro1064Ser)
|
rs937051533
|
|
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.3715G>T (p.Gly1239Cys)
|
rs2079412833
|
|
NM_181882.3(PRX):c.3767T>G (p.Val1256Gly)
|
rs2079412133
|
|
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.4097G>A (p.Gly1366Glu)
|
rs748112276
|
|
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.832_861del (p.Pro278_Ala287del)
|
rs2079451762
|
|