NM_002272.4(KRT4):c.*269A>G
|
rs2035879
|
0.82793
|
NM_021076.4(NEFH):c.2784A>G (p.Val928=)
|
rs165625
|
0.80626
|
NM_002276.5(KRT19):c.471T>C (p.Asn157=)
|
rs4601
|
0.63838
|
NM_002276.5(KRT19):c.90C>T (p.Ala30=)
|
rs11550883
|
0.59102
|
NM_000526.5(KRT14):c.193C>T (p.Leu65=)
|
rs3826551
|
0.58145
|
NM_000526.5(KRT14):c.189C>T (p.Cys63=)
|
rs11551758
|
0.56357
|
NM_000526.5(KRT14):c.369T>C (p.Asn123=)
|
rs3826549
|
0.56333
|
NM_002273.4(KRT8):c.681A>G (p.Leu227=)
|
rs8608
|
0.49112
|
NM_002055.5(GFAP):c.906+81A>G
|
rs2289671
|
0.47704
|
NM_006121.4(KRT1):c.1389C>T (p.Arg463=)
|
rs936958
|
0.45526
|
NM_006121.4(KRT1):c.868-31T>C
|
rs2741158
|
0.45526
|
NM_002055.4(GFAP):c.-264C>A
|
rs2070935
|
0.45297
|
NM_002055.5(GFAP):c.1172-306A>G
|
rs9915329
|
0.41889
|
NM_006262.4(PRPH):c.545+69G>C
|
rs7488343
|
0.41037
|
NM_000526.5(KRT14):c.280G>A (p.Ala94Thr)
|
rs3826550
|
0.40897
|
NM_006121.4(KRT1):c.963+52T>G
|
rs2741159
|
0.37434
|
NM_002282.3(KRT83):c.558C>T (p.Asn186=)
|
rs3741715
|
0.32296
|
NM_006262.4(PRPH):c.702+27T>C
|
rs2070760
|
0.30664
|
NM_002276.4(KRT19):c.-99G>C
|
rs56051972
|
0.29170
|
NM_000223.4(KRT12):c.43C>T (p.Pro15Ser)
|
rs11650915
|
0.28816
|
NM_002055.5(GFAP):c.*28C>G
|
rs11558961
|
0.27601
|
NM_002055.5(GFAP):c.1258-86C>T
|
rs11651396
|
0.26184
|
NM_000526.5(KRT14):c.231C>T (p.Ser77=)
|
rs6503639
|
0.25809
|
NM_002055.5(GFAP):c.1128-66C>G
|
rs2289679
|
0.25658
|
NM_002055.4(GFAP):c.-518T>A
|
rs28485918
|
0.24949
|
NM_006262.4(PRPH):c.1107A>G (p.Lys369=)
|
rs73112143
|
0.24810
|
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)
|
rs505058
|
0.23806
|
NM_002281.4(KRT81):c.735+4C>T
|
rs12812669
|
0.23428
|
NM_000424.4(KRT5):c.591C>A (p.Asp197Glu)
|
rs641615
|
0.22738
|
NM_000424.4(KRT5):c.594C>A (p.Thr198=)
|
rs641621
|
0.22738
|
NM_006262.4(PRPH):c.1267+58T>C
|
rs2236746
|
0.22650
|
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641
|
0.20715
|
NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu)
|
rs5763269
|
0.19153
|
NM_000424.4(KRT5):c.555+9C>T
|
rs638907
|
0.18403
|
NM_170707.4(LMNA):c.861T>C (p.Ala287=)
|
rs538089
|
0.18331
|
NM_170707.4(LMNA):c.1157+16G>A
|
rs534807
|
0.18318
|
NM_006121.4(KRT1):c.1413= (p.Thr471=)
|
rs698170
|
0.17860
|
NM_000421.5(KRT10):c.376G>A (p.Gly126Ser)
|
rs77919366
|
0.17640
|
NM_000424.4(KRT5):c.1582A>G (p.Ser528Gly)
|
rs11549950
|
0.17563
|
NM_170707.4(LMNA):c.1489-41C>T
|
rs553016
|
0.17380
|
NM_000526.5(KRT14):c.1322-13A>G
|
rs2001185
|
0.17177
|
NM_002055.5(GFAP):c.619-12C>T
|
rs3744468
|
0.15797
|
NM_000424.4(KRT5):c.630T>C (p.Thr210=)
|
rs17852231
|
0.15363
|
NM_000424.4(KRT5):c.1065A>C (p.Thr355=)
|
rs4761924
|
0.15330
|
NM_002055.5(GFAP):c.907-100A>C
|
rs8067029
|
0.15267
|
NM_000424.4(KRT5):c.1627G>A (p.Gly543Ser)
|
rs11549949
|
0.15185
|
NM_002055.5(GFAP):c.858G>A (p.Arg286=)
|
rs2289681
|
0.14614
|
NM_021076.4(NEFH):c.2414A>C (p.Glu805Ala)
|
rs165602
|
0.14527
|
NM_002055.5(GFAP):c.1128-151C>T
|
rs71373526
|
0.14299
|
NM_004693.3(KRT75):c.481G>A (p.Ala161Thr)
|
rs2232387
|
0.14041
|
NM_001320198.2(KRT86):c.348G>A (p.Arg116=)
|
rs58580222
|
0.13244
|
NM_002055.5(GFAP):c.1171+501C>A
|
rs12941832
|
0.12522
|
NM_001320198.2(KRT86):c.416A>C (p.Gln139Pro)
|
rs58717266
|
0.10399
|
NM_021076.4(NEFH):c.1387G>A (p.Glu463Lys)
|
rs59371099
|
0.06827
|
NM_006262.4(PRPH):c.1217+43C>A
|
rs112146976
|
0.05942
|
NM_170707.4(LMNA):c.810+61C>T
|
rs11264445
|
0.05733
|
NM_005573.4(LMNB1):c.*18C>T
|
rs2230151
|
0.05698
|
NM_006262.4(PRPH):c.-24G>C
|
rs74089010
|
0.05436
|
NM_005573.4(LMNB1):c.414T>C (p.Tyr138=)
|
rs3749830
|
0.05426
|
NM_170707.4(LMNA):c.810+13G>T
|
rs11264444
|
0.05317
|
NM_000424.4(KRT5):c.413G>A (p.Gly138Glu)
|
rs11170164
|
0.05271
|
NM_170707.4(LMNA):c.1968+26A>G
|
rs80264244
|
0.03826
|
NM_002055.5(GFAP):c.141G>A (p.Pro47=)
|
rs2229011
|
0.03629
|
NM_002283.4(KRT85):c.233G>A (p.Arg78His)
|
rs61630004
|
0.03613
|
NM_002055.5(GFAP):c.883G>A (p.Asp295Asn)
|
rs1126642
|
0.03309
|
NM_006121.4(KRT1):c.75C>T (p.Ile25=)
|
rs828367
|
0.02886
|
NM_002055.5(GFAP):c.619-96G>T
|
rs62065770
|
0.02663
|
NM_002273.4(KRT8):c.1022G>A (p.Arg341His)
|
rs57422427
|
0.02267
|
NM_002055.5(GFAP):c.1171+471C>T
|
rs78994946
|
0.02172
|
NM_006262.4(PRPH):c.63C>T (p.Phe21=)
|
rs58403142
|
0.02123
|
NM_006262.4(PRPH):c.829G>A (p.Ala277Thr)
|
rs62636520
|
0.02119
|
NM_002273.4(KRT8):c.1300G>A (p.Gly434Ser)
|
rs58573614
|
0.01799
|
NM_006121.4(KRT1):c.1360G>T (p.Ala454Ser)
|
rs17678945
|
0.01785
|
NM_006262.4(PRPH):c.1083C>G (p.Leu361=)
|
rs62636517
|
0.01563
|
NM_000526.5(KRT14):c.1237G>A (p.Ala413Thr)
|
rs59780231
|
0.01556
|
NM_005573.4(LMNB1):c.1502C>T (p.Ala501Val)
|
rs36105360
|
0.01478
|
NM_000223.3(KRT12):c.*360A>C
|
rs62065925
|
0.01366
|
NM_006262.4(PRPH):c.1217+27C>A
|
rs200141011
|
0.01155
|
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn)
|
rs59291670
|
0.01123
|
NM_005382.2(NEFM):c.2089G>C (p.Gly697Arg)
|
rs59726684
|
0.01062
|
NM_001927.4(DES):c.638C>T (p.Ala213Val)
|
rs41272699
|
0.01015
|
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln)
|
rs121912497
|
0.01005
|
NM_001927.4(DES):c.1375G>A (p.Val459Ile)
|
rs73991549
|
0.00981
|
NM_170707.4(LMNA):c.1158-44C>T
|
rs141879453
|
0.00929
|
NM_002055.5(GFAP):c.96T>C (p.Gly32=)
|
rs60045579
|
0.00908
|
NM_006262.4(PRPH):c.26G>A (p.Arg9Gln)
|
rs57451017
|
0.00901
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
NM_005382.2(NEFM):c.1104T>C (p.Asn368=)
|
rs59419000
|
0.00772
|
NM_001320198.2(KRT86):c.197G>A (p.Arg66His)
|
rs57242951
|
0.00769
|
NM_005382.2(NEFM):c.1423G>A (p.Ala475Thr)
|
rs61528354
|
0.00733
|
NM_002273.4(KRT8):c.160T>C (p.Tyr54His)
|
rs57749775
|
0.00715
|
NM_170707.4(LMNA):c.612G>A (p.Leu204=)
|
rs12117552
|
0.00637
|
NM_005382.2(NEFM):c.2174C>A (p.Pro725Gln)
|
rs196863
|
0.00623
|
NM_021076.4(NEFH):c.745G>A (p.Gly249Ser)
|
rs60825978
|
0.00590
|
NM_002273.4(KRT8):c.184G>T (p.Gly62Cys)
|
rs11554495
|
0.00545
|
NM_000526.5(KRT14):c.188= (p.Cys63=)
|
rs1555572096
|
0.00544
|
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu)
|
rs57474185
|
0.00543
|
NM_006158.5(NEFL):c.667C>T (p.Leu223=)
|
rs60156239
|
0.00494
|
NM_002273.4(KRT8):c.1202+46A>T
|
rs189690662
|
0.00452
|
NM_000224.3(KRT18):c.689G>C (p.Ser230Thr)
|
rs58472472
|
0.00405
|
NM_000424.4(KRT5):c.1636C>A (p.Leu546Ile)
|
rs114734812
|
0.00394
|
NM_002273.4(KRT8):c.955G>T (p.Ala319Ser)
|
rs58912304
|
0.00394
|
NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr)
|
rs58599399
|
0.00373
|
NM_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880
|
0.00321
|
NM_170707.4(LMNA):c.811-13T>A
|
rs80356809
|
0.00309
|
NM_002273.4(KRT8):c.187A>G (p.Ile63Val)
|
rs59536457
|
0.00302
|
NM_005573.4(LMNB1):c.852T>C (p.Ser284=)
|
rs61726489
|
0.00288
|
NM_000526.5(KRT14):c.88C>T (p.Arg30Cys)
|
rs201069984
|
0.00188
|
NM_000224.3(KRT18):c.500+38G>A
|
rs143051595
|
0.00176
|
NM_005382.2(NEFM):c.387T>G (p.Ile129Met)
|
rs59062625
|
0.00145
|
NM_005382.2(NEFM):c.2572G>A (p.Val858Ile)
|
rs57658073
|
0.00141
|
NM_170707.4(LMNA):c.937-46A>G
|
rs180926699
|
0.00131
|
NM_002273.4(KRT8):c.*38G>A
|
rs267607663
|
0.00124
|
NM_002273.4(KRT8):c.1128G>A (p.Glu376=)
|
rs61616174
|
0.00119
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_005557.4(KRT16):c.1062A>T (p.Lys354Asn)
|
rs59328451
|
0.00116
|
NM_002273.4(KRT8):c.*8C>T
|
rs201942002
|
0.00115
|
NM_000224.3(KRT18):c.448A>G (p.Ile150Val)
|
rs59979366
|
0.00107
|
NM_021076.4(NEFH):c.2368_2370del (p.Lys790del)
|
rs59551486
|
0.00091
|
NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn)
|
rs57153321
|
0.00081
|
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)
|
rs60662302
|
0.00078
|
NM_000224.3(KRT18):c.418-4C>G
|
rs267607652
|
0.00076
|
NM_005382.2(NEFM):c.2153T>C (p.Val718Ala)
|
rs57810298
|
0.00071
|
NM_005382.2(NEFM):c.447G>C (p.Ala149=)
|
rs59222096
|
0.00069
|
NM_006158.5(NEFL):c.639C>G (p.Ile213Met)
|
rs62636522
|
0.00065
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00059
|
NM_002273.4(KRT8):c.*31C>T
|
rs267607662
|
0.00045
|
NM_000226.4(KRT9):c.1216T>C (p.Cys406Arg)
|
rs77688767
|
0.00043
|
NM_000224.3(KRT18):c.383A>T (p.His128Leu)
|
rs57758506
|
0.00033
|
NM_021076.4(NEFH):c.269C>T (p.Ala90Val)
|
rs61556467
|
0.00030
|
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln)
|
rs56679084
|
0.00027
|
NM_006262.4(PRPH):c.*82C>A
|
rs7137584
|
0.00027
|
NM_002273.4(KRT8):c.1138G>A (p.Val380Ile)
|
rs56997521
|
0.00025
|
NM_005382.2(NEFM):c.1006G>A (p.Gly336Ser)
|
rs56902012
|
0.00025
|
NM_021076.4(NEFH):c.1138G>A (p.Ala380Thr)
|
rs201416955
|
0.00025
|
NM_000224.3(KRT18):c.890C>T (p.Thr297Ile)
|
rs115810585
|
0.00024
|
NM_005382.2(NEFM):c.104T>A (p.Phe35Tyr)
|
rs60857059
|
0.00019
|
NM_002273.4(KRT8):c.1392G>T (p.Lys464Asn)
|
rs201507031
|
0.00018
|
NM_032737.4(LMNB2):c.265-6C>T
|
rs267607650
|
0.00015
|
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)
|
rs61094188
|
0.00015
|
NM_001927.4(DES):c.893C>T (p.Ser298Leu)
|
rs62636491
|
0.00014
|
NM_006158.5(NEFL):c.227T>C (p.Val76Ala)
|
rs58907919
|
0.00013
|
NM_006158.5(NEFL):c.423G>A (p.Gln141=)
|
rs59161567
|
0.00012
|
NM_000224.3(KRT18):c.884C>T (p.Thr295Met)
|
rs267607418
|
0.00011
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
NM_002055.5(GFAP):c.1140C>T (p.Pro380=)
|
rs267607527
|
0.00010
|
NM_006158.5(NEFL):c.1560C>A (p.Thr520=)
|
rs267607677
|
0.00010
|
NM_005382.2(NEFM):c.837C>A (p.Ser279Arg)
|
rs57688534
|
0.00009
|
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)
|
rs56851164
|
0.00009
|
NM_006158.5(NEFL):c.1212C>T (p.Ser404=)
|
rs60547413
|
0.00008
|
NM_002276.5(KRT19):c.552C>T (p.Asn184=)
|
rs267607655
|
0.00007
|
NM_006158.5(NEFL):c.1458C>T (p.Ala486=)
|
rs61726486
|
0.00007
|
NM_032737.4(LMNB2):c.1279G>A (p.Ala427Thr)
|
rs57521499
|
0.00007
|
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)
|
rs267607606
|
0.00007
|
NM_000224.3(KRT18):c.993C>T (p.Tyr331=)
|
rs58138700
|
0.00006
|
NM_002055.5(GFAP):c.343G>A (p.Val115Ile)
|
rs56746197
|
0.00006
|
NM_006158.5(NEFL):c.1590T>G (p.Val530=)
|
rs267607679
|
0.00006
|
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)
|
rs267607603
|
0.00006
|
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)
|
rs201583907
|
0.00006
|
NM_170707.4(LMNA):c.937-7C>G
|
rs267607681
|
0.00006
|
NM_170707.4(LMNA):c.1803C>T (p.Ser601=)
|
rs267607604
|
0.00005
|
NM_000224.3(KRT18):c.854A>G (p.Gln285Arg)
|
rs59112368
|
0.00004
|
NM_002273.4(KRT8):c.216G>A (p.Leu72=)
|
rs58262021
|
0.00004
|
NM_170707.4(LMNA):c.1196G>A (p.Arg399His)
|
rs267607563
|
0.00004
|
NM_170707.4(LMNA):c.1299C>T (p.His433=)
|
rs61217436
|
0.00004
|
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)
|
rs57520892
|
0.00004
|
NM_170707.4(LMNA):c.357-20C>T
|
rs193922724
|
0.00004
|
NM_000224.3(KRT18):c.1232G>A (p.Arg411His)
|
rs148580152
|
0.00003
|
NM_000526.5(KRT14):c.1264G>A (p.Glu422Lys)
|
rs58762773
|
0.00003
|
NM_002273.4(KRT8):c.158G>T (p.Gly53Val)
|
rs61710484
|
0.00003
|
NM_003380.5(VIM):c.451G>A (p.Glu151Lys)
|
rs121917775
|
0.00003
|
NM_006121.4(KRT1):c.800G>A (p.Arg267Gln)
|
rs60359468
|
0.00003
|
NM_006262.4(PRPH):c.398G>C (p.Arg133Pro)
|
rs267607528
|
0.00003
|
NM_021076.4(NEFH):c.1629A>G (p.Glu543=)
|
rs58971806
|
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.1158-38G>A
|
rs267607686
|
0.00003
|
NM_170707.4(LMNA):c.1908C>T (p.Ser636=)
|
rs80356814
|
0.00003
|
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)
|
rs59885338
|
0.00003
|
NM_000224.3(KRT18):c.782G>A (p.Arg261Gln)
|
rs57354642
|
0.00002
|
NM_000526.5(KRT14):c.400C>T (p.Arg134Cys)
|
rs58706476
|
0.00002
|
NM_000526.5(KRT14):c.612T>A (p.Tyr204Ter)
|
rs60725382
|
0.00002
|
NM_001927.4(DES):c.1048C>T (p.Arg350Trp)
|
rs62636492
|
0.00002
|
NM_002055.5(GFAP):c.759C>T (p.Ala253=)
|
rs190972724
|
0.00002
|
NM_002273.4(KRT8):c.1360C>T (p.Arg454Cys)
|
rs267607479
|
0.00002
|
NM_002273.4(KRT8):c.164G>C (p.Gly55Ala)
|
rs57282588
|
0.00002
|
NM_006158.5(NEFL):c.279G>A (p.Gln93=)
|
rs60737254
|
0.00002
|
NM_006158.5(NEFL):c.45G>A (p.Lys15=)
|
rs62636518
|
0.00002
|
NM_006262.4(PRPH):c.870+12G>A
|
rs267607531
|
0.00002
|
NM_170707.4(LMNA):c.1098G>A (p.Lys366=)
|
rs57901307
|
0.00002
|
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)
|
rs121912493
|
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_000224.3(KRT18):c.307A>G (p.Thr103Ala)
|
rs61136606
|
0.00001
|
NM_000226.4(KRT9):c.488G>A (p.Arg163Gln)
|
rs57758262
|
0.00001
|
NM_000422.3(KRT17):c.280C>T (p.Arg94Cys)
|
rs58730926
|
0.00001
|
NM_000422.3(KRT17):c.325A>G (p.Asn109Asp)
|
rs267607412
|
0.00001
|
NM_000424.4(KRT5):c.1252G>A (p.Glu418Lys)
|
rs121912476
|
0.00001
|
NM_000424.4(KRT5):c.499G>A (p.Glu167Lys)
|
rs57378129
|
0.00001
|
NM_000424.4(KRT5):c.508G>A (p.Glu170Lys)
|
rs59115483
|
0.00001
|
NM_000424.4(KRT5):c.991C>A (p.Arg331Ser)
|
rs61297109
|
0.00001
|
NM_000526.5(KRT14):c.1130T>C (p.Ile377Thr)
|
rs61536893
|
0.00001
|
NM_000526.5(KRT14):c.19C>T (p.Gln7Ter)
|
rs267607391
|
0.00001
|
NM_000526.5(KRT14):c.526-2A>C
|
rs200779504
|
0.00001
|
NM_000526.5(KRT14):c.92del (p.Ile31fs)
|
rs60231560
|
0.00001
|
NM_001320198.2(KRT86):c.1204G>A (p.Glu402Lys)
|
rs60687604
|
0.00001
|
NM_001927.4(DES):c.1333A>G (p.Thr445Ala)
|
rs267607498
|
0.00001
|
NM_001927.4(DES):c.46C>T (p.Arg16Cys)
|
rs60798368
|
0.00001
|
NM_002273.4(KRT8):c.1021C>T (p.Arg341Cys)
|
rs62636489
|
0.00001
|
NM_002276.5(KRT19):c.49G>A (p.Gly17Ser)
|
rs200777034
|
0.00001
|
NM_002281.4(KRT81):c.1237G>A (p.Glu413Lys)
|
rs57419521
|
0.00001
|
NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys)
|
rs57802288
|
0.00001
|
NM_003571.4(BFSP2):c.859C>T (p.Arg287Trp)
|
rs104893685
|
0.00001
|
NM_005557.4(KRT16):c.379C>T (p.Arg127Cys)
|
rs59856285
|
0.00001
|
NM_006158.5(NEFL):c.123C>T (p.Ser41=)
|
rs57762083
|
0.00001
|
NM_006158.5(NEFL):c.1492G>A (p.Ala498Thr)
|
rs151208148
|
0.00001
|
NM_006158.5(NEFL):c.19G>A (p.Glu7Lys)
|
rs57848467
|
0.00001
|
NM_006158.5(NEFL):c.720C>T (p.Tyr240=)
|
rs58975336
|
0.00001
|
NM_006262.4(PRPH):c.1108G>A (p.Glu370Lys)
|
rs59827092
|
0.00001
|
NM_057088.3(KRT3):c.1525G>A (p.Glu509Lys)
|
rs57872071
|
0.00001
|
NM_153490.3(KRT13):c.341G>A (p.Arg114His)
|
rs267607388
|
0.00001
|
NM_170707.4(LMNA):c.*27G>A
|
rs267607682
|
0.00001
|
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)
|
rs267607555
|
0.00001
|
NM_170707.4(LMNA):c.1163G>A (p.Arg388His)
|
rs267607576
|
0.00001
|
NM_170707.4(LMNA):c.1184C>T (p.Ser395Leu)
|
rs267607561
|
0.00001
|
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys)
|
rs58672172
|
0.00001
|
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro)
|
rs267607564
|
0.00001
|
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)
|
rs150840924
|
0.00001
|
NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys)
|
rs62636506
|
0.00001
|
NM_170707.4(LMNA):c.1381G>T (p.Asp461Tyr)
|
rs267607642
|
0.00001
|
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys)
|
rs28928902
|
0.00001
|
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)
|
rs267607578
|
0.00001
|
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)
|
rs57920071
|
0.00001
|
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)
|
rs11575937
|
0.00001
|
NM_170707.4(LMNA):c.1462A>C (p.Thr488Pro)
|
rs267607607
|
0.00001
|
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)
|
rs57318642
|
0.00001
|
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met)
|
rs57629361
|
0.00001
|
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)
|
rs267607613
|
0.00001
|
NM_170707.4(LMNA):c.1745G>A (p.Arg582His)
|
rs57830985
|
0.00001
|
NM_170707.4(LMNA):c.1751G>A (p.Arg584His)
|
rs56657623
|
0.00001
|
NM_170707.4(LMNA):c.1871G>A (p.Arg624His)
|
rs13768
|
0.00001
|
NM_170707.4(LMNA):c.1892G>A (p.Gly631Asp)
|
rs267607648
|
0.00001
|
NM_170707.4(LMNA):c.274C>T (p.Leu92Phe)
|
rs267607560
|
0.00001
|
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp)
|
rs267607626
|
0.00001
|
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)
|
rs59026483
|
0.00001
|
NM_170707.4(LMNA):c.640-10A>G
|
rs80356807
|
0.00001
|
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)
|
rs60682848
|
0.00001
|
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)
|
rs56816490
|
0.00001
|
NM_170707.4(LMNA):c.952G>A (p.Ala318Thr)
|
rs267607574
|
0.00001
|
NM_000223.4(KRT12):c.1276A>G (p.Ile426Val)
|
rs59465138
|
|
NM_000223.4(KRT12):c.1277T>G (p.Ile426Ser)
|
rs59350319
|
|
NM_000223.4(KRT12):c.1285T>G (p.Tyr429Asp)
|
rs58162394
|
|
NM_000223.4(KRT12):c.1286A>G (p.Tyr429Cys)
|
rs59202432
|
|
NM_000223.4(KRT12):c.1289G>C (p.Arg430Pro)
|
rs62635290
|
|
NM_000223.4(KRT12):c.1298T>G (p.Leu433Arg)
|
rs267607386
|
|
NM_000223.4(KRT12):c.385A>G (p.Met129Val)
|
rs267607387
|
|
NM_000223.4(KRT12):c.386T>C (p.Met129Thr)
|
rs28936695
|
|
NM_000223.4(KRT12):c.389A>C (p.Gln130Pro)
|
rs58864803
|
|
NM_000223.4(KRT12):c.399T>G (p.Asn133Lys)
|
rs61167390
|
|
NM_000223.4(KRT12):c.403A>G (p.Arg135Gly)
|
rs58410481
|
|
NM_000223.4(KRT12):c.404G>C (p.Arg135Thr)
|
rs57218384
|
|
NM_000223.4(KRT12):c.404G>T (p.Arg135Ile)
|
rs57218384
|
|
NM_000223.4(KRT12):c.405A>C (p.Arg135Ser)
|
rs61282718
|
|
NM_000223.4(KRT12):c.409G>C (p.Ala137Pro)
|
rs58038639
|
|
NM_000223.4(KRT12):c.419T>G (p.Leu140Arg)
|
rs58918655
|
|
NM_000223.4(KRT12):c.427G>C (p.Val143Leu)
|
rs58343600
|
|
NM_000223.4(KRT12):c.427G>T (p.Val143Leu)
|
rs58343600
|
|
NM_000223.4(KRT12):c.55C>T (p.Arg19Trp)
|
rs200258980
|
|
NM_000224.3(KRT18):c.-15C>T
|
rs267607653
|
|
NM_000224.3(KRT18):c.1018G>A (p.Gly340Arg)
|
rs57370769
|
|
NM_000224.3(KRT18):c.193_216del (p.Thr65_Ala72del)
|
rs267607417
|
|
NM_000224.3(KRT18):c.827A>G (p.Glu276Gly)
|
rs61696408
|
|
NM_000226.4(KRT9):c.1360T>C (p.Tyr454His)
|
rs267607420
|
|
NM_000226.4(KRT9):c.1363_1365dup (p.His455dup)
|
rs57909628
|
|
NM_000226.4(KRT9):c.1372C>T (p.Leu458Phe)
|
rs58120120
|
|
NM_000226.4(KRT9):c.216C>T (p.Ser72=)
|
rs57483266
|
|
NM_000226.4(KRT9):c.426A>C (p.Gly142=)
|
rs58061921
|
|
NM_000226.4(KRT9):c.429A>C (p.Gly143=)
|
rs8075921
|
|
NM_000226.4(KRT9):c.469A>G (p.Met157Val)
|
rs58597584
|
|
NM_000226.4(KRT9):c.470T>A (p.Met157Lys)
|
rs59510579
|
|
NM_000226.4(KRT9):c.470T>C (p.Met157Thr)
|
rs59510579
|
|
NM_000226.4(KRT9):c.470T>G (p.Met157Arg)
|
rs59510579
|
|
NM_000226.4(KRT9):c.478C>G (p.Leu160Val)
|
rs28940896
|
|
NM_000226.4(KRT9):c.478C>T (p.Leu160Phe)
|
rs28940896
|
|
NM_000226.4(KRT9):c.481A>C (p.Asn161His)
|
rs59296273
|
|
NM_000226.4(KRT9):c.481A>T (p.Asn161Tyr)
|
rs59296273
|
|
NM_000226.4(KRT9):c.482A>G (p.Asn161Ser)
|
rs56707768
|
|
NM_000226.4(KRT9):c.482A>T (p.Asn161Ile)
|
rs56707768
|
|
NM_000226.4(KRT9):c.483T>A (p.Asn161Lys)
|
rs57536312
|
|
NM_000226.4(KRT9):c.484T>C (p.Ser162Pro)
|
rs267607419
|
|
NM_000226.4(KRT9):c.487C>T (p.Arg163Trp)
|
rs59616921
|
|
NM_000226.4(KRT9):c.488G>C (p.Arg163Pro)
|
rs57758262
|
|
NM_000226.4(KRT9):c.500delinsGGCT (p.Tyr167delinsTrpLeu)
|
rs59317143
|
|
NM_000226.4(KRT9):c.503T>C (p.Leu168Ser)
|
rs61157095
|
|
NM_000226.4(KRT9):c.508A>T (p.Lys170Ter)
|
rs58149344
|
|
NM_000226.4(KRT9):c.511G>A (p.Val171Met)
|
rs57019720
|
|
NM_000226.4(KRT9):c.515A>C (p.Gln172Pro)
|
rs59878153
|
|
NM_000421.5(KRT10):c.1155+5G>A
|
rs267607381
|
|
NM_000421.5(KRT10):c.1264_1265delinsGA (p.Arg422Glu)
|
rs59075499
|
|
NM_000421.5(KRT10):c.1281_1282delinsAA (p.Cys427_Gln428delinsTer)
|
rs267607377
|
|
NM_000421.5(KRT10):c.1300C>T (p.Gln434Ter)
|
rs60035576
|
|
NM_000421.5(KRT10):c.1314_1315insC (p.Lys439fs)
|
rs267607379
|
|
NM_000421.5(KRT10):c.1315A>G (p.Lys439Glu)
|
rs61434181
|
|
NM_000421.5(KRT10):c.1325T>A (p.Leu442Gln)
|
rs58026994
|
|
NM_000421.5(KRT10):c.1333G>A (p.Glu445Lys)
|
rs267607380
|
|
NM_000421.5(KRT10):c.1337T>C (p.Ile446Thr)
|
rs62651994
|
|
NM_000421.5(KRT10):c.1340A>C (p.Gln447Pro)
|
rs267607378
|
|
NM_000421.5(KRT10):c.1346A>G (p.Tyr449Cys)
|
rs267607383
|
|
NM_000421.5(KRT10):c.1355T>C (p.Leu452Pro)
|
rs62651995
|
|
NM_000421.5(KRT10):c.1358T>C (p.Leu453Pro)
|
rs62652043
|
|
NM_000421.5(KRT10):c.1450_1451insC (p.Gly484fs)
|
rs267607382
|
|
NM_000421.5(KRT10):c.1546_1551delinsT (p.Gly516fs)
|
rs267607385
|
|
NM_000421.5(KRT10):c.1560_1561del (p.Gly521fs)
|
rs267607384
|
|
NM_000421.5(KRT10):c.449T>C (p.Met150Thr)
|
rs58901407
|
|
NM_000421.5(KRT10):c.449T>G (p.Met150Arg)
|
rs58901407
|
|
NM_000421.5(KRT10):c.457C>G (p.Leu153Val)
|
rs61460100
|
|
NM_000421.5(KRT10):c.460A>C (p.Asn154His)
|
rs57784225
|
|
NM_000421.5(KRT10):c.465_466delinsAA (p.Asp155_Arg156delinsGluSer)
|
rs60712939
|
|
NM_000421.5(KRT10):c.466C>A (p.Arg156Ser)
|
rs58852768
|
|
NM_000421.5(KRT10):c.466C>G (p.Arg156Gly)
|
rs58852768
|
|
NM_000421.5(KRT10):c.466C>T (p.Arg156Cys)
|
rs58852768
|
|
NM_000421.5(KRT10):c.467G>A (p.Arg156His)
|
rs58075662
|
|
NM_000421.5(KRT10):c.467G>C (p.Arg156Pro)
|
rs58075662
|
|
NM_000421.5(KRT10):c.467G>T (p.Arg156Leu)
|
rs58075662
|
|
NM_000421.5(KRT10):c.472G>C (p.Ala158Pro)
|
rs59175042
|
|
NM_000421.5(KRT10):c.478T>G (p.Tyr160Asp)
|
rs58414354
|
|
NM_000421.5(KRT10):c.479A>C (p.Tyr160Ser)
|
rs58735429
|
|
NM_000421.5(KRT10):c.481_486del (p.Leu161_Asp162del)
|
rs56809156
|
|
NM_000421.5(KRT10):c.482T>C (p.Leu161Ser)
|
rs60118264
|
|
NM_000422.3(KRT17):c.1112T>C (p.Leu371Pro)
|
rs267607413
|
|
NM_000422.3(KRT17):c.1163T>C (p.Leu388Pro)
|
rs56690581
|
|
NM_000422.3(KRT17):c.263T>A (p.Met88Lys)
|
rs28928898
|
|
NM_000422.3(KRT17):c.263T>C (p.Met88Thr)
|
rs28928898
|
|
NM_000422.3(KRT17):c.274A>C (p.Asn92His)
|
rs28928896
|
|
NM_000422.3(KRT17):c.274A>G (p.Asn92Asp)
|
rs28928896
|
|
NM_000422.3(KRT17):c.274_297del (p.Asn92_Leu99del)
|
rs267607414
|
|
NM_000422.3(KRT17):c.275A>G (p.Asn92Ser)
|
rs59151893
|
|
NM_000422.3(KRT17):c.281G>A (p.Arg94His)
|
rs28928897
|
|
NM_000422.3(KRT17):c.281G>C (p.Arg94Pro)
|
rs28928897
|
|
NM_000422.3(KRT17):c.281_295del (p.Arg94_Tyr98del)
|
rs57674130
|
|
NM_000422.3(KRT17):c.284T>A (p.Leu95Gln)
|
rs28928899
|
|
NM_000422.3(KRT17):c.284T>C (p.Leu95Pro)
|
rs28928899
|
|
NM_000422.3(KRT17):c.287CCT[1] (p.Ser97del)
|
rs121912478
|
|
NM_000422.3(KRT17):c.287_298del (p.Ala96_Leu99del)
|
rs267607416
|
|
NM_000422.3(KRT17):c.292T>G (p.Tyr98Asp)
|
rs28933088
|
|
NM_000422.3(KRT17):c.295_303del (p.Leu99_Lys101del)
|
rs267607415
|
|
NM_000422.3(KRT17):c.296T>C (p.Leu99Pro)
|
rs28933089
|
|
NM_000422.3(KRT17):c.304G>A (p.Val102Met)
|
rs59977263
|
|
NM_000422.3(KRT17):c.309T>C (p.Arg103=)
|
rs57436765
|
|
NM_000423.3(KRT2):c.1426G>A (p.Glu476Lys)
|
rs56829062
|
|
NM_000423.3(KRT2):c.1427A>T (p.Glu476Val)
|
rs60537449
|
|
NM_000423.3(KRT2):c.1435A>C (p.Thr479Pro)
|
rs137852630
|
|
NM_000423.3(KRT2):c.1448T>A (p.Leu483Gln)
|
rs61726456
|
|
NM_000423.3(KRT2):c.1451T>C (p.Leu484Pro)
|
rs61726451
|
|
NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys)
|
rs137852629
|
|
NM_000423.3(KRT2):c.1461G>T (p.Glu487Asp)
|
rs137852628
|
|
NM_000423.3(KRT2):c.1462G>A (p.Glu488Lys)
|
rs61726452
|
|
NM_000423.3(KRT2):c.532G>A (p.Glu178Lys)
|
rs57728941
|
|
NM_000423.3(KRT2):c.542A>T (p.Gln181Leu)
|
rs57510142
|
|
NM_000423.3(KRT2):c.545T>A (p.Ile182Asn)
|
rs61622714
|
|
NM_000423.3(KRT2):c.556A>T (p.Asn186Tyr)
|
rs137852631
|
|
NM_000423.3(KRT2):c.558C>A (p.Asn186Lys)
|
rs137852632
|
|
NM_000423.3(KRT2):c.607A>G (p.Asn203Asp)
|
rs61726455
|
|
NM_000424.4(KRT5):c.1054C>A (p.Arg352Ser)
|
rs59112594
|
|
NM_000424.4(KRT5):c.10C>T (p.Gln4Ter)
|
rs267607455
|
|
NM_000424.4(KRT5):c.1159T>A (p.Ser387Thr)
|
rs2669875
|
|
NM_000424.4(KRT5):c.1210A>G (p.Lys404Glu)
|
rs60809982
|
|
NM_000424.4(KRT5):c.1282G>A (p.Ala428Thr)
|
rs267607458
|
|
NM_000424.4(KRT5):c.1283C>T (p.Ala428Val)
|
rs59243757
|
|
NM_000424.4(KRT5):c.1285_1299del (p.Arg429_Ala433del)
|
rs267607434
|
|
NM_000424.4(KRT5):c.1313C>A (p.Ala438Asp)
|
rs57845028
|
|
NM_000424.4(KRT5):c.1329G>C (p.Lys443Asn)
|
rs267607453
|
|
NM_000424.4(KRT5):c.1362_1365delinsAGCTGGTA (p.Glu455fs)
|
rs267607447
|
|
NM_000424.4(KRT5):c.1388T>C (p.Leu463Pro)
|
rs57599352
|
|
NM_000424.4(KRT5):c.1398G>C (p.Glu466Asp)
|
rs62642056
|
|
NM_000424.4(KRT5):c.1399A>C (p.Ile467Leu)
|
rs58288198
|
|
NM_000424.4(KRT5):c.1400T>C (p.Ile467Thr)
|
rs60271599
|
|
NM_000424.4(KRT5):c.1401C>G (p.Ile467Met)
|
rs60062350
|
|
NM_000424.4(KRT5):c.1405A>C (p.Thr469Pro)
|
rs60596287
|
|
NM_000424.4(KRT5):c.1411C>T (p.Arg471Cys)
|
rs267607448
|
|
NM_000424.4(KRT5):c.1414A>T (p.Lys472Ter)
|
rs57348201
|
|
NM_000424.4(KRT5):c.1423G>A (p.Glu475Lys)
|
rs57155193
|
|
NM_000424.4(KRT5):c.1424A>G (p.Glu475Gly)
|
rs61348633
|
|
NM_000424.4(KRT5):c.1427G>A (p.Gly476Asp)
|
rs56922686
|
|
NM_000424.4(KRT5):c.1427G>C (p.Gly476Ala)
|
rs56922686
|
|
NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys)
|
rs59190510
|
|
NM_000424.4(KRT5):c.1429G>T (p.Glu477Ter)
|
rs59190510
|
|
NM_000424.4(KRT5):c.1430A>G (p.Glu477Gly)
|
rs58319159
|
|
NM_000424.4(KRT5):c.1432G>A (p.Glu478Lys)
|
rs267607438
|
|
NM_000424.4(KRT5):c.1437del (p.Glu478_Cys479insTer)
|
rs267607440
|
|
NM_000424.4(KRT5):c.1438A>G (p.Arg480Gly)
|
rs267607446
|
|
NM_000424.4(KRT5):c.1474+4A>G
|
rs267607454
|
|
NM_000424.4(KRT5):c.14C>A (p.Ser5Ter)
|
rs58751565
|
|
NM_000424.4(KRT5):c.1550G>A (p.Gly517Asp)
|
rs58608695
|
|
NM_000424.4(KRT5):c.1635del (p.Leu546fs)
|
rs57187183
|
|
NM_000424.4(KRT5):c.1649del (p.Gly550fs)
|
rs61126080
|
|
NM_000424.4(KRT5):c.1692C>A (p.Gly564=)
|
rs267607659
|
|
NM_000424.4(KRT5):c.1730T>A (p.Phe577Tyr)
|
rs267607442
|
|
NM_000424.4(KRT5):c.1755G>A (p.Arg585=)
|
rs267607660
|
|
NM_000424.4(KRT5):c.237T>A (p.Ser79Arg)
|
rs1065115
|
|
NM_000424.4(KRT5):c.240T>A (p.Gly80=)
|
rs1065116
|
|
NM_000424.4(KRT5):c.2T>C (p.Met1Thr)
|
rs267607444
|
|
NM_000424.4(KRT5):c.382G>C (p.Gly128Arg)
|
rs267607657
|
|
NM_000424.4(KRT5):c.418dup (p.Ile140fs)
|
rs61348424
|
|
NM_000424.4(KRT5):c.427G>T (p.Val143Phe)
|
rs267607439
|
|
NM_000424.4(KRT5):c.428T>A (p.Val143Asp)
|
rs59851104
|
|
NM_000424.4(KRT5):c.428T>C (p.Val143Ala)
|
rs59851104
|
|
NM_000424.4(KRT5):c.442_443del (p.Leu149fs)
|
rs57739872
|
|
NM_000424.4(KRT5):c.446T>C (p.Leu149Pro)
|
rs267607449
|
|
NM_000424.4(KRT5):c.449T>C (p.Leu150Pro)
|
rs62635291
|
|
NM_000424.4(KRT5):c.451A>C (p.Thr151Pro)
|
rs267607450
|
|
NM_000424.4(KRT5):c.455C>T (p.Pro152Leu)
|
rs60617604
|
|
NM_000424.4(KRT5):c.473A>T (p.Asp158Val)
|
rs61222761
|
|
NM_000424.4(KRT5):c.482T>G (p.Ile161Ser)
|
rs58058996
|
|
NM_000424.4(KRT5):c.489G>T (p.Arg163Ser)
|
rs267607436
|
|
NM_000424.4(KRT5):c.495G>T (p.Arg165Ser)
|
rs267607456
|
|
NM_000424.4(KRT5):c.502G>A (p.Glu168Lys)
|
rs58619430
|
|
NM_000424.4(KRT5):c.506G>C (p.Arg169Pro)
|
rs60720877
|
|
NM_000424.4(KRT5):c.509A>G (p.Glu170Gly)
|
rs57408864
|
|
NM_000424.4(KRT5):c.513G>A (p.Gln171=)
|
rs267607658
|
|
NM_000424.4(KRT5):c.514A>G (p.Ile172Val)
|
rs267607445
|
|
NM_000424.4(KRT5):c.519G>C (p.Lys173Asn)
|
rs58163069
|
|
NM_000424.4(KRT5):c.523C>T (p.Leu175Phe)
|
rs57890479
|
|
NM_000424.4(KRT5):c.527A>G (p.Asn176Ser)
|
rs59092197
|
|
NM_000424.4(KRT5):c.530A>G (p.Asn177Ser)
|
rs61495052
|
|
NM_000424.4(KRT5):c.531_533del (p.Asn177del)
|
rs267607441
|
|
NM_000424.4(KRT5):c.536T>C (p.Phe179Ser)
|
rs57781042
|
|
NM_000424.4(KRT5):c.538G>C (p.Ala180Pro)
|
rs267607451
|
|
NM_000424.4(KRT5):c.539C>A (p.Ala180Asp)
|
rs58480900
|
|
NM_000424.4(KRT5):c.541T>C (p.Ser181Pro)
|
rs60715293
|
|
NM_000424.4(KRT5):c.547A>G (p.Ile183Val)
|
rs58577926
|
|
NM_000424.4(KRT5):c.547A>T (p.Ile183Phe)
|
rs58577926
|
|
NM_000424.4(KRT5):c.547_549del (p.Ile183del)
|
rs61726460
|
|
NM_000424.4(KRT5):c.548T>C (p.Ile183Thr)
|
rs267607661
|
|
NM_000424.4(KRT5):c.549C>G (p.Ile183Met)
|
rs267607443
|
|
NM_000424.4(KRT5):c.556-1G>C
|
rs267607433
|
|
NM_000424.4(KRT5):c.556-1G>T
|
rs267607433
|
|
NM_000424.4(KRT5):c.556G>A (p.Val186Met)
|
rs121912475
|
|
NM_000424.4(KRT5):c.556G>T (p.Val186Leu)
|
rs121912475
|
|
NM_000424.4(KRT5):c.557T>A (p.Val186Glu)
|
rs267607457
|
|
NM_000424.4(KRT5):c.560G>C (p.Arg187Pro)
|
rs267607452
|
|
NM_000424.4(KRT5):c.568G>A (p.Glu190Lys)
|
rs58976397
|
|
NM_000424.4(KRT5):c.570G>C (p.Glu190Asp)
|
rs267607437
|
|
NM_000424.4(KRT5):c.572A>C (p.Gln191Pro)
|
rs57751134
|
|
NM_000424.4(KRT5):c.579C>A (p.Asn193Lys)
|
rs60586163
|
|
NM_000424.4(KRT5):c.579C>G (p.Asn193Lys)
|
rs60586163
|
|
NM_000424.4(KRT5):c.579C>T (p.Asn193=)
|
rs60586163
|
|
NM_000424.4(KRT5):c.593C>G (p.Thr198Ser)
|
rs267607435
|
|
NM_000424.4(KRT5):c.594C>T (p.Thr198=)
|
rs641621
|
|
NM_000424.4(KRT5):c.596A>C (p.Lys199Thr)
|
rs58766676
|
|
NM_000424.4(KRT5):c.596A>G (p.Lys199Arg)
|
rs58766676
|
|
NM_000424.4(KRT5):c.596A>T (p.Lys199Met)
|
rs58766676
|
|
NM_000424.4(KRT5):c.732G>A (p.Leu244=)
|
rs1132948
|
|
NM_000424.4(KRT5):c.74C>T (p.Pro25Leu)
|
rs57499817
|
|
NM_000424.4(KRT5):c.794G>C (p.Arg265Pro)
|
rs201583229
|
|
NM_000424.4(KRT5):c.932T>G (p.Leu311Arg)
|
rs59864957
|
|
NM_000424.4(KRT5):c.968T>C (p.Val323Ala)
|
rs59840738
|
|
NM_000424.4(KRT5):c.971T>A (p.Val324Asp)
|
rs59335325
|
|
NM_000424.4(KRT5):c.971T>C (p.Val324Ala)
|
rs59335325
|
|
NM_000424.4(KRT5):c.974T>C (p.Leu325Pro)
|
rs58107458
|
|
NM_000424.4(KRT5):c.980T>A (p.Met327Lys)
|
rs58072617
|
|
NM_000424.4(KRT5):c.980T>C (p.Met327Thr)
|
rs58072617
|
|
NM_000424.4(KRT5):c.982G>C (p.Asp328His)
|
rs56790237
|
|
NM_000424.4(KRT5):c.983A>G (p.Asp328Gly)
|
rs57142010
|
|
NM_000424.4(KRT5):c.983A>T (p.Asp328Val)
|
rs57142010
|
|
NM_000424.4(KRT5):c.984C>A (p.Asp328Glu)
|
rs59464425
|
|
NM_000424.4(KRT5):c.986A>G (p.Asn329Ser)
|
rs59184265
|
|
NM_000424.4(KRT5):c.987C>A (p.Asn329Lys)
|
rs59730172
|
|
NM_000424.4(KRT5):c.991C>G (p.Arg331Gly)
|
rs61297109
|
|
NM_000424.4(KRT5):c.991C>T (p.Arg331Cys)
|
rs61297109
|
|
NM_000424.4(KRT5):c.992G>A (p.Arg331His)
|
rs56729325
|
|
NM_000526.5(KRT14):c.1117_1158dup (p.Ile373_Gln386dup)
|
rs267607401
|
|
NM_000526.5(KRT14):c.1123_1125del (p.Glu375del)
|
rs56974573
|
|
NM_000526.5(KRT14):c.1130T>A (p.Ile377Asn)
|
rs61536893
|
|
NM_000526.5(KRT14):c.1141G>A (p.Glu381Lys)
|
rs267607399
|
|
NM_000526.5(KRT14):c.1151T>C (p.Leu384Pro)
|
rs59629244
|
|
NM_000526.5(KRT14):c.1162C>G (p.Arg388Gly)
|
rs59966597
|
|
NM_000526.5(KRT14):c.1162C>T (p.Arg388Cys)
|
rs59966597
|
|
NM_000526.5(KRT14):c.1163G>C (p.Arg388Pro)
|
rs58645163
|
|
NM_000526.5(KRT14):c.1174G>T (p.Glu392Ter)
|
rs267607395
|
|
NM_000526.5(KRT14):c.1186C>T (p.Gln396Ter)
|
rs58393329
|
|
NM_000526.5(KRT14):c.1202T>C (p.Leu401Pro)
|
rs267607394
|
|
NM_000526.5(KRT14):c.1218del (p.Arg407fs)
|
rs58397858
|
|
NM_000526.5(KRT14):c.1222C>A (p.Leu408Met)
|
rs57200223
|
|
NM_000526.5(KRT14):c.1228C>T (p.Gln410Ter)
|
rs267607400
|
|
NM_000526.5(KRT14):c.1231G>A (p.Glu411Lys)
|
rs61664582
|
|
NM_000526.5(KRT14):c.1231G>T (p.Glu411Ter)
|
rs61664582
|
|
NM_000526.5(KRT14):c.1231_1233del (p.Glu411del)
|
rs267607389
|
|
NM_000526.5(KRT14):c.1234A>T (p.Ile412Phe)
|
rs267607403
|
|
NM_000526.5(KRT14):c.1235T>A (p.Ile412Asn)
|
rs267607393
|
|
NM_000526.5(KRT14):c.1237G>C (p.Ala413Pro)
|
rs59780231
|
|
NM_000526.5(KRT14):c.1240_1249del (p.Thr414fs)
|
rs267607404
|
|
NM_000526.5(KRT14):c.1243T>C (p.Tyr415His)
|
rs58380626
|
|
NM_000526.5(KRT14):c.1244A>G (p.Tyr415Cys)
|
rs59442925
|
|
NM_000526.5(KRT14):c.1246del (p.Arg416fs)
|
rs58357841
|
|
NM_000526.5(KRT14):c.1247G>C (p.Arg416Pro)
|
rs60622724
|
|
NM_000526.5(KRT14):c.1250G>C (p.Arg417Pro)
|
rs61085704
|
|
NM_000526.5(KRT14):c.1252C>G (p.Leu418Val)
|
rs59440884
|
|
NM_000526.5(KRT14):c.1256T>A (p.Leu419Gln)
|
rs57364972
|
|
NM_000526.5(KRT14):c.129dup (p.Ser44fs)
|
rs59829117
|
|
NM_000526.5(KRT14):c.17del (p.Arg6fs)
|
rs267607390
|
|
NM_000526.5(KRT14):c.242dup (p.Gly81_Ser82insTer)
|
rs59799857
|
|
NM_000526.5(KRT14):c.313_314del (p.Ala105fs)
|
rs57278315
|
|
NM_000526.5(KRT14):c.346A>G (p.Lys116Glu)
|
rs60338701
|
|
NM_000526.5(KRT14):c.346A>T (p.Lys116Ter)
|
rs60338701
|
|
NM_000526.5(KRT14):c.348G>C (p.Lys116Asn)
|
rs59271739
|
|
NM_000526.5(KRT14):c.355A>G (p.Met119Val)
|
rs61263401
|
|
NM_000526.5(KRT14):c.356T>C (p.Met119Thr)
|
rs28928893
|
|
NM_000526.5(KRT14):c.357G>A (p.Met119Ile)
|
rs57358989
|
|
NM_000526.5(KRT14):c.359A>C (p.Gln120Pro)
|
rs60993843
|
|
NM_000526.5(KRT14):c.359A>G (p.Gln120Arg)
|
rs60993843
|
|
NM_000526.5(KRT14):c.364C>T (p.Leu122Phe)
|
rs59110575
|
|
NM_000526.5(KRT14):c.368A>G (p.Asn123Ser)
|
rs60171927
|
|
NM_000526.5(KRT14):c.369T>A (p.Asn123Lys)
|
rs3826549
|
|
NM_000526.5(KRT14):c.373C>G (p.Arg125Gly)
|
rs60399023
|
|
NM_000526.5(KRT14):c.373C>T (p.Arg125Cys)
|
rs60399023
|
|
NM_000526.5(KRT14):c.374G>A (p.Arg125His)
|
rs58330629
|
|
NM_000526.5(KRT14):c.374G>C (p.Arg125Pro)
|
rs58330629
|
|
NM_000526.5(KRT14):c.374G>T (p.Arg125Leu)
|
rs58330629
|
|
NM_000526.5(KRT14):c.380CCT[1] (p.Ser128del)
|
rs61221088
|
|
NM_000526.5(KRT14):c.382T>C (p.Ser128Pro)
|
rs267607396
|
|
NM_000526.5(KRT14):c.385T>G (p.Tyr129Asp)
|
rs60470268
|
|
NM_000526.5(KRT14):c.386A>G (p.Tyr129Cys)
|
rs60352920
|
|
NM_000526.5(KRT14):c.389T>C (p.Leu130Pro)
|
rs57522245
|
|
NM_000526.5(KRT14):c.397G>A (p.Val133Met)
|
rs61027685
|
|
NM_000526.5(KRT14):c.397G>C (p.Val133Leu)
|
rs61027685
|
|
NM_000526.5(KRT14):c.397G>T (p.Val133Leu)
|
rs61027685
|
|
NM_000526.5(KRT14):c.398T>C (p.Val133Ala)
|
rs1555603282
|
|
NM_000526.5(KRT14):c.399G>T (p.Val133=)
|
rs61545959
|
|
NM_000526.5(KRT14):c.401G>C (p.Arg134Pro)
|
rs61540016
|
|
NM_000526.5(KRT14):c.407T>A (p.Leu136Gln)
|
rs267607392
|
|
NM_000526.5(KRT14):c.407T>C (p.Leu136Pro)
|
rs267607392
|
|
NM_000526.5(KRT14):c.419A>G (p.Asn140Ser)
|
rs267607397
|
|
NM_000526.5(KRT14):c.427del (p.Leu143fs)
|
rs57180772
|
|
NM_000526.5(KRT14):c.428T>C (p.Leu143Pro)
|
rs61326242
|
|
NM_000526.5(KRT14):c.431A>C (p.Glu144Ala)
|
rs57121345
|
|
NM_000526.5(KRT14):c.442C>T (p.Arg148Cys)
|
rs58378809
|
|
NM_000526.5(KRT14):c.528T>G (p.Ile176Met)
|
rs61765950
|
|
NM_000526.5(KRT14):c.529_534del (p.Leu177_Thr178del)
|
rs62652044
|
|
NM_000526.5(KRT14):c.54C>A (p.Cys18Ter)
|
rs60831116
|
|
NM_000526.5(KRT14):c.556G>A (p.Val186Ile)
|
rs267607651
|
|
NM_000526.5(KRT14):c.632G>C (p.Arg211Pro)
|
rs60589227
|
|
NM_000526.5(KRT14):c.744delinsAG (p.Tyr248Ter)
|
rs60779206
|
|
NM_000526.5(KRT14):c.749del (p.Lys250fs)
|
rs267607406
|
|
NM_000526.5(KRT14):c.803T>A (p.Val268Asp)
|
rs267607398
|
|
NM_000526.5(KRT14):c.808G>A (p.Val270Met)
|
rs58560979
|
|
NM_000526.5(KRT14):c.815T>C (p.Met272Thr)
|
rs61371557
|
|
NM_000526.5(KRT14):c.815T>G (p.Met272Arg)
|
rs61371557
|
|
NM_000526.5(KRT14):c.818A>G (p.Asp273Gly)
|
rs59375065
|
|
NM_000526.5(KRT14):c.821C>A (p.Ala274Asp)
|
rs58785777
|
|
NM_000526.5(KRT14):c.915G>A (p.Trp305Ter)
|
rs60090257
|
|
NM_000526.5(KRT14):c.927+1G>A
|
rs113582618
|
|
NM_000526.5(KRT14):c.927+1G>T
|
rs113582618
|
|
NM_000526.5(KRT14):c.955A>C (p.Thr319Pro)
|
rs267607405
|
|
NM_001320198.2(KRT86):c.1204G>C (p.Glu402Gln)
|
rs60687604
|
|
NM_001320198.2(KRT86):c.1237G>A (p.Glu413Lys)
|
rs121909129
|
|
NM_001320198.2(KRT86):c.1239G>T (p.Glu413Asp)
|
rs121909130
|
|
NM_001320198.2(KRT86):c.340A>C (p.Asn114His)
|
rs61091894
|
|
NM_001320198.2(KRT86):c.340A>G (p.Asn114Asp)
|
rs61091894
|
|
NM_001320198.2(KRT86):c.353C>A (p.Ala118Glu)
|
rs60612575
|
|
NM_001927.4(DES):c.1009G>C (p.Ala337Pro)
|
rs59962885
|
|
NM_001927.4(DES):c.1013T>G (p.Leu338Arg)
|
rs57496341
|
|
NM_001927.4(DES):c.1024A>G (p.Asn342Asp)
|
rs267607482
|
|
NM_001927.4(DES):c.1034T>C (p.Leu345Pro)
|
rs57639980
|
|
NM_001927.4(DES):c.1049G>C (p.Arg350Pro)
|
rs57965306
|
|
NM_001927.4(DES):c.1064G>C (p.Arg355Pro)
|
rs61368398
|
|
NM_001927.4(DES):c.1069G>C (p.Ala357Pro)
|
rs58898021
|
|
NM_001927.4(DES):c.1076_1084del (p.Glu359_Ser361del)
|
rs58409037
|
|
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del)
|
rs58687088
|
|
NM_001927.4(DES):c.1099A>T (p.Ile367Phe)
|
rs62636494
|
|
NM_001927.4(DES):c.1109T>C (p.Leu370Pro)
|
rs59308628
|
|
NM_001927.4(DES):c.1126C>T (p.His376Tyr)
|
rs57404866
|
|
NM_001927.4(DES):c.1154T>C (p.Leu385Pro)
|
rs57955682
|
|
NM_001927.4(DES):c.1166A>C (p.Gln389Pro)
|
rs121913004
|
|
NM_001927.4(DES):c.1175T>C (p.Leu392Pro)
|
rs62636493
|
|
NM_001927.4(DES):c.1178A>T (p.Asn393Ile)
|
rs121913001
|
|
NM_001927.4(DES):c.1195G>T (p.Asp399Tyr)
|
rs61130669
|
|
NM_001927.4(DES):c.1201G>A (p.Glu401Lys)
|
rs57694264
|
|
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)
|
rs121913003
|
|
NM_001927.4(DES):c.1237G>A (p.Glu413Lys)
|
rs61726467
|
|
NM_001927.4(DES):c.1255C>T (p.Pro419Ser)
|
rs62635763
|
|
NM_001927.4(DES):c.1325C>T (p.Thr442Ile)
|
rs121913005
|
|
NM_001927.4(DES):c.1346A>C (p.Lys449Thr)
|
rs267607485
|
|
NM_001927.4(DES):c.1353C>G (p.Ile451Met)
|
rs121913002
|
|
NM_001927.4(DES):c.1358C>T (p.Thr453Ile)
|
rs267607488
|
|
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
|
rs267607490
|
|
NM_001927.4(DES):c.1370A>T (p.Glu457Val)
|
rs267607496
|
|
NM_001927.4(DES):c.1379G>T (p.Ser460Ile)
|
rs267607491
|
|
NM_001927.4(DES):c.137C>A (p.Ser46Tyr)
|
rs60794845
|
|
NM_001927.4(DES):c.137C>T (p.Ser46Phe)
|
rs60794845
|
|
NM_001927.4(DES):c.1405G>A (p.Val469Met)
|
rs267607487
|
|
NM_001927.4(DES):c.322G>A (p.Glu108Lys)
|
rs62636490
|
|
NM_001927.4(DES):c.338_339del (p.Gln113fs)
|
rs267607497
|
|
NM_001927.4(DES):c.340_342del (p.Glu114del)
|
rs267607493
|
|
NM_001927.4(DES):c.347A>G (p.Asn116Ser)
|
rs267607499
|
|
NM_001927.4(DES):c.35C>T (p.Ser12Phe)
|
rs267607495
|
|
NM_001927.4(DES):c.38C>T (p.Ser13Phe)
|
rs62636495
|
|
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del)
|
rs60538473
|
|
NM_001927.4(DES):c.5G>T (p.Ser2Ile)
|
rs58999456
|
|
NM_001927.4(DES):c.640-1G>A
|
rs267607484
|
|
NM_001927.4(DES):c.640-2A>G
|
rs267607492
|
|
NM_001927.4(DES):c.723dup (p.Val242fs)
|
rs57659464
|
|
NM_001927.4(DES):c.735+2_735+11del
|
rs267607489
|
|
NM_001927.4(DES):c.735+3A>G
|
rs267607483
|
|
NM_001927.4(DES):c.735G>C (p.Glu245Asp)
|
rs267607486
|
|
NM_001927.4(DES):c.821T>C (p.Leu274Pro)
|
rs267607494
|
|
NM_001927.4(DES):c.821T>G (p.Leu274Arg)
|
rs267607494
|
|
NM_002055.5(GFAP):c.*32C>G
|
rs267607669
|
|
NM_002055.5(GFAP):c.1055T>C (p.Leu352Pro)
|
rs28932769
|
|
NM_002055.5(GFAP):c.1070T>C (p.Leu357Pro)
|
rs267607515
|
|
NM_002055.5(GFAP):c.1075C>G (p.Leu359Val)
|
rs60825166
|
|
NM_002055.5(GFAP):c.1076T>C (p.Leu359Pro)
|
rs267607511
|
|
NM_002055.5(GFAP):c.1079A>T (p.Asp360Val)
|
rs62636501
|
|
NM_002055.5(GFAP):c.1086G>C (p.Glu362Asp)
|
rs121909718
|
|
NM_002055.5(GFAP):c.1090G>C (p.Ala364Pro)
|
rs58645997
|
|
NM_002055.5(GFAP):c.1091C>T (p.Ala364Val)
|
rs267607503
|
|
NM_002055.5(GFAP):c.1096T>C (p.Tyr366His)
|
rs58008462
|
|
NM_002055.5(GFAP):c.1097A>G (p.Tyr366Cys)
|
rs267607502
|
|
NM_002055.5(GFAP):c.1111G>C (p.Glu371Gln)
|
rs267607526
|
|
NM_002055.5(GFAP):c.1112A>G (p.Glu371Gly)
|
rs57815192
|
|
NM_002055.5(GFAP):c.1112A>T (p.Glu371Val)
|
rs57815192
|
|
NM_002055.5(GFAP):c.1117G>A (p.Glu373Lys)
|
rs58075601
|
|
NM_002055.5(GFAP):c.1117G>C (p.Glu373Gln)
|
rs58075601
|
|
NM_002055.5(GFAP):c.1121A>G (p.Glu374Gly)
|
rs59628143
|
|
NM_002055.5(GFAP):c.1126C>G (p.Arg376Gly)
|
rs267607512
|
|
NM_002055.5(GFAP):c.1126C>T (p.Arg376Trp)
|
rs267607512
|
|
NM_002055.5(GFAP):c.1148C>T (p.Thr383Ile)
|
rs267607517
|
|
NM_002055.5(GFAP):c.1157A>T (p.Asn386Ile)
|
rs61726471
|
|
NM_002055.5(GFAP):c.1178G>T (p.Ser393Ile)
|
rs62635764
|
|
NM_002055.5(GFAP):c.1193C>A (p.Ser398Tyr)
|
rs267607508
|
|
NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp)
|
rs121909717
|
|
NM_002055.5(GFAP):c.1250A>C (p.Asp417Ala)
|
rs267607520
|
|
NM_002055.5(GFAP):c.1277A>T (p.Gln426Leu)
|
rs267607521
|
|
NM_002055.5(GFAP):c.187A>C (p.Lys63Gln)
|
rs60095124
|
|
NM_002055.5(GFAP):c.208C>T (p.Arg70Trp)
|
rs60343255
|
|
NM_002055.5(GFAP):c.209G>A (p.Arg70Gln)
|
rs267607510
|
|
NM_002055.5(GFAP):c.211G>A (p.Ala71Thr)
|
rs267607522
|
|
NM_002055.5(GFAP):c.214G>A (p.Glu72Lys)
|
rs267607523
|
|
NM_002055.5(GFAP):c.218T>A (p.Met73Lys)
|
rs61060395
|
|
NM_002055.5(GFAP):c.218T>G (p.Met73Arg)
|
rs61060395
|
|
NM_002055.5(GFAP):c.221T>C (p.Met74Thr)
|
rs267607504
|
|
NM_002055.5(GFAP):c.226C>G (p.Leu76Val)
|
rs57120761
|
|
NM_002055.5(GFAP):c.226C>T (p.Leu76Phe)
|
rs57120761
|
|
NM_002055.5(GFAP):c.229A>T (p.Asn77Tyr)
|
rs58732244
|
|
NM_002055.5(GFAP):c.230A>G (p.Asn77Ser)
|
rs57590980
|
|
NM_002055.5(GFAP):c.235C>A (p.Arg79Ser)
|
rs59793293
|
|
NM_002055.5(GFAP):c.235C>G (p.Arg79Gly)
|
rs59793293
|
|
NM_002055.5(GFAP):c.235C>T (p.Arg79Cys)
|
rs59793293
|
|
NM_002055.5(GFAP):c.236G>A (p.Arg79His)
|
rs59285727
|
|
NM_002055.5(GFAP):c.236G>C (p.Arg79Pro)
|
rs59285727
|
|
NM_002055.5(GFAP):c.236G>T (p.Arg79Leu)
|
rs59285727
|
|
NM_002055.5(GFAP):c.247T>C (p.Tyr83His)
|
rs267607506
|
|
NM_002055.5(GFAP):c.248A>C (p.Tyr83Ser)
|
rs58454592
|
|
NM_002055.5(GFAP):c.256_259delinsGAGT (p.Lys86_Val87delinsGluPhe)
|
rs267607501
|
|
NM_002055.5(GFAP):c.257A>G (p.Lys86Arg)
|
rs267607524
|
|
NM_002055.5(GFAP):c.259G>C (p.Val87Leu)
|
rs267607518
|
|
NM_002055.5(GFAP):c.260T>G (p.Val87Gly)
|
rs60449251
|
|
NM_002055.5(GFAP):c.262C>A (p.Arg88Ser)
|
rs61622935
|
|
NM_002055.5(GFAP):c.262C>T (p.Arg88Cys)
|
rs61622935
|
|
NM_002055.5(GFAP):c.269T>C (p.Leu90Pro)
|
rs59661476
|
|
NM_002055.5(GFAP):c.290T>C (p.Leu97Pro)
|
rs59568967
|
|
NM_002055.5(GFAP):c.302T>C (p.Leu101Pro)
|
rs267607516
|
|
NM_002055.5(GFAP):c.343G>T (p.Val115Phe)
|
rs56746197
|
|
NM_002055.5(GFAP):c.382G>A (p.Asp128Asn)
|
rs267607509
|
|
NM_002055.5(GFAP):c.523-76G>C
|
rs267607668
|
|
NM_002055.5(GFAP):c.523-9C>G
|
rs267607666
|
|
NM_002055.5(GFAP):c.613G>A (p.Glu205Lys)
|
rs267607507
|
|
NM_002055.5(GFAP):c.619G>A (p.Glu207Lys)
|
rs267607500
|
|
NM_002055.5(GFAP):c.619G>C (p.Glu207Gln)
|
rs267607500
|
|
NM_002055.5(GFAP):c.628G>A (p.Glu210Lys)
|
rs57661783
|
|
NM_002055.5(GFAP):c.704T>C (p.Leu235Pro)
|
rs60269890
|
|
NM_002055.5(GFAP):c.707A>C (p.Lys236Thr)
|
rs267607525
|
|
NM_002055.5(GFAP):c.715C>T (p.Arg239Cys)
|
rs58064122
|
|
NM_002055.5(GFAP):c.716G>A (p.Arg239His)
|
rs59565950
|
|
NM_002055.5(GFAP):c.716G>C (p.Arg239Pro)
|
rs59565950
|
|
NM_002055.5(GFAP):c.716G>T (p.Arg239Leu)
|
rs59565950
|
|
NM_002055.5(GFAP):c.724T>G (p.Tyr242Asp)
|
rs60551555
|
|
NM_002055.5(GFAP):c.731C>T (p.Ala244Val)
|
rs61497286
|
|
NM_002055.5(GFAP):c.739T>C (p.Ser247Pro)
|
rs267607519
|
|
NM_002055.5(GFAP):c.758C>G (p.Ala253Gly)
|
rs61726470
|
|
NM_002055.5(GFAP):c.770A>G (p.Tyr257Cys)
|
rs267607505
|
|
NM_002055.5(GFAP):c.773G>C (p.Arg258Pro)
|
rs61726468
|
|
NM_002055.5(GFAP):c.780+646G>A
|
rs267607667
|
|
NM_002055.5(GFAP):c.827G>T (p.Arg276Leu)
|
rs121909719
|
|
NM_002055.5(GFAP):c.835A>G (p.Lys279Glu)
|
rs58536923
|
|
NM_002055.5(GFAP):c.988C>G (p.Arg330Gly)
|
rs267607513
|
|
NM_002055.5(GFAP):c.992T>C (p.Leu331Pro)
|
rs59985777
|
|
NM_002055.5(GFAP):c.994G>A (p.Glu332Lys)
|
rs267607514
|
|
NM_002272.4(KRT4):c.638_639insACA (p.Leu213_Lys214insGln)
|
rs267607432
|
|
NM_002273.4(KRT8):c.1261+11del
|
rs267607664
|
|
NM_002273.4(KRT8):c.1261+20G>A
|
rs267607665
|
|
NM_002273.4(KRT8):c.77C>G (p.Thr26Arg)
|
rs57286292
|
|
NM_002276.5(KRT19):c.179C>G (p.Ala60Gly)
|
rs4602
|
|
NM_002276.5(KRT19):c.685G>A (p.Val229Met)
|
rs267607654
|
|
NM_002281.4(KRT81):c.1204G>A (p.Glu402Lys)
|
rs56821304
|
|
NM_003571.4(BFSP2):c.694GAA[1] (p.Glu233del)
|
rs121908938
|
|
NM_005382.2(NEFM):c.1420A>G (p.Thr474Ala)
|
rs59853292
|
|
NM_005382.2(NEFM):c.2263G>T (p.Val755Leu)
|
rs57294395
|
|
NM_005382.2(NEFM):c.2487_2489del (p.Val830del)
|
rs58277456
|
|
NM_005554.4(KRT6A):c.1303C>T (p.Gln435Ter)
|
rs267607467
|
|
NM_005554.4(KRT6A):c.1381G>A (p.Glu461Lys)
|
rs267607468
|
|
NM_005554.4(KRT6A):c.1381G>C (p.Glu461Gln)
|
rs267607468
|
|
NM_005554.4(KRT6A):c.1385T>A (p.Ile462Asn)
|
rs57629991
|
|
NM_005554.4(KRT6A):c.1385T>G (p.Ile462Ser)
|
rs57629991
|
|
NM_005554.4(KRT6A):c.1387G>C (p.Ala463Pro)
|
rs267607462
|
|
NM_005554.4(KRT6A):c.1390A>C (p.Thr464Pro)
|
rs61293647
|
|
NM_005554.4(KRT6A):c.1393T>C (p.Tyr465His)
|
rs267607463
|
|
NM_005554.4(KRT6A):c.1394A>G (p.Tyr465Cys)
|
rs267607469
|
|
NM_005554.4(KRT6A):c.1403T>A (p.Leu468Gln)
|
rs59018888
|
|
NM_005554.4(KRT6A):c.1403T>C (p.Leu468Pro)
|
rs59018888
|
|
NM_005554.4(KRT6A):c.1406T>C (p.Leu469Pro)
|
rs57052654
|
|
NM_005554.4(KRT6A):c.1406T>G (p.Leu469Arg)
|
rs57052654
|
|
NM_005554.4(KRT6A):c.1414G>A (p.Glu472Lys)
|
rs60554162
|
|
NM_005554.4(KRT6A):c.1416G>C (p.Glu472Asp)
|
rs267607470
|
|
NM_005554.4(KRT6A):c.1511dup (p.Ser505fs)
|
rs267607471
|
|
NM_005554.4(KRT6A):c.487G>A (p.Glu163Lys)
|
rs267607464
|
|
NM_005554.4(KRT6A):c.491G>C (p.Arg164Pro)
|
rs62635293
|
|
NM_005554.4(KRT6A):c.497A>C (p.Gln166Pro)
|
rs267607460
|
|
NM_005554.4(KRT6A):c.500T>A (p.Ile167Asn)
|
rs57126929
|
|
NM_005554.4(KRT6A):c.500T>G (p.Ile167Ser)
|
rs57126929
|
|
NM_005554.4(KRT6A):c.508C>T (p.Leu170Phe)
|
rs57448541
|
|
NM_005554.4(KRT6A):c.510CAA[2] (p.Asn172del)
|
rs606231214
|
|
NM_005554.4(KRT6A):c.511A>G (p.Asn171Asp)
|
rs62635294
|
|
NM_005554.4(KRT6A):c.511A>T (p.Asn171Tyr)
|
rs62635294
|
|
NM_005554.4(KRT6A):c.512A>C (p.Asn171Thr)
|
rs58556099
|
|
NM_005554.4(KRT6A):c.512A>G (p.Asn171Ser)
|
rs58556099
|
|
NM_005554.4(KRT6A):c.513C>A (p.Asn171Lys)
|
rs59685571
|
|
NM_005554.4(KRT6A):c.520T>G (p.Phe174Val)
|
rs28933087
|
|
NM_005554.4(KRT6A):c.521T>C (p.Phe174Ser)
|
rs61145796
|
|
NM_005554.4(KRT6A):c.521T>G (p.Phe174Cys)
|
rs61145796
|
|
NM_005554.4(KRT6A):c.526T>C (p.Ser176Pro)
|
rs59642296
|
|
NM_005554.4(KRT6A):c.533T>A (p.Ile178Asn)
|
rs267607461
|
|
NM_005554.4(KRT6A):c.541-1G>C
|
rs267607465
|
|
NM_005554.4(KRT6A):c.541-1G>T
|
rs267607465
|
|
NM_005554.4(KRT6A):c.541-2A>C
|
rs267607466
|
|
NM_005554.4(KRT6A):c.541-2A>G
|
rs267607466
|
|
NM_005555.4(KRT6B):c.1381G>A (p.Glu461Lys)
|
rs267607473
|
|
NM_005555.4(KRT6B):c.1414G>A (p.Glu472Lys)
|
rs60627726
|
|
NM_005555.4(KRT6B):c.510CAA[2] (p.Asn172del)
|
rs267607472
|
|
NM_005557.4(KRT16):c.1270del (p.Glu424fs)
|
rs267607407
|
|
NM_005557.4(KRT16):c.25del (p.Thr9fs)
|
rs267607411
|
|
NM_005557.4(KRT16):c.316_327del (p.Phe106_Gly109del)
|
rs267607408
|
|
NM_005557.4(KRT16):c.362T>A (p.Met121Lys)
|
rs28928894
|
|
NM_005557.4(KRT16):c.362T>C (p.Met121Thr)
|
rs28928894
|
|
NM_005557.4(KRT16):c.365A>C (p.Gln122Pro)
|
rs59349773
|
|
NM_005557.4(KRT16):c.371T>A (p.Leu124His)
|
rs58293603
|
|
NM_005557.4(KRT16):c.371T>C (p.Leu124Pro)
|
rs58293603
|
|
NM_005557.4(KRT16):c.371T>G (p.Leu124Arg)
|
rs58293603
|
|
NM_005557.4(KRT16):c.371_373del (p.Leu124_Asn125delinsHis)
|
rs267607410
|
|
NM_005557.4(KRT16):c.373A>G (p.Asn125Asp)
|
rs58608173
|
|
NM_005557.4(KRT16):c.374A>G (p.Asn125Ser)
|
rs60723330
|
|
NM_005557.4(KRT16):c.380G>C (p.Arg127Pro)
|
rs57424749
|
|
NM_005557.4(KRT16):c.383T>A (p.Leu128Gln)
|
rs28928895
|
|
NM_005557.4(KRT16):c.386CCT[1] (p.Ser130del)
|
rs58181827
|
|
NM_005557.4(KRT16):c.395T>C (p.Leu132Pro)
|
rs60944949
|
|
NM_005557.4(KRT16):c.43A>T (p.Lys15Ter)
|
rs267607409
|
|
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser)
|
rs80338938
|
|
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys)
|
rs80338938
|
|
NM_006121.4(KRT1):c.1019A>G (p.Asp340Gly)
|
rs58062863
|
|
NM_006121.4(KRT1):c.1019A>T (p.Asp340Val)
|
rs58062863
|
|
NM_006121.4(KRT1):c.1072T>A (p.Tyr358Asn)
|
rs1050872
|
|
NM_006121.4(KRT1):c.1254+1G>A
|
rs267607421
|
|
NM_006121.4(KRT1):c.1310T>C (p.Leu437Pro)
|
rs267607428
|
|
NM_006121.4(KRT1):c.1376_1399del (p.Ala459_Gln466del)
|
rs60447237
|
|
NM_006121.4(KRT1):c.1432G>A (p.Glu478Lys)
|
rs59089201
|
|
NM_006121.4(KRT1):c.1432G>C (p.Glu478Gln)
|
rs59089201
|
|
NM_006121.4(KRT1):c.1434G>T (p.Glu478Asp)
|
rs58949162
|
|
NM_006121.4(KRT1):c.1435A>T (p.Ile479Phe)
|
rs61218439
|
|
NM_006121.4(KRT1):c.1436T>C (p.Ile479Thr)
|
rs57837128
|
|
NM_006121.4(KRT1):c.1441A>C (p.Thr481Pro)
|
rs59431558
|
|
NM_006121.4(KRT1):c.1445A>G (p.Tyr482Cys)
|
rs58420087
|
|
NM_006121.4(KRT1):c.1454T>C (p.Leu485Pro)
|
rs267607430
|
|
NM_006121.4(KRT1):c.1457T>C (p.Leu486Pro)
|
rs56914602
|
|
NM_006121.4(KRT1):c.1457T>G (p.Leu486Arg)
|
rs56914602
|
|
NM_006121.4(KRT1):c.1465G>A (p.Glu489Lys)
|
rs58773503
|
|
NM_006121.4(KRT1):c.1468G>A (p.Glu490Lys)
|
rs60279707
|
|
NM_006121.4(KRT1):c.1468G>C (p.Glu490Gln)
|
rs60279707
|
|
NM_006121.4(KRT1):c.1469A>G (p.Glu490Gly)
|
rs58453920
|
|
NM_006121.4(KRT1):c.1556del (p.Gly519fs)
|
rs58373389
|
|
NM_006121.4(KRT1):c.1574_1600del (p.Tyr525_Gly533del)
|
rs58193503
|
|
NM_006121.4(KRT1):c.1609_1610delinsA (p.Gly537fs)
|
rs59169454
|
|
NM_006121.4(KRT1):c.1628del (p.Gly543fs)
|
rs57650413
|
|
NM_006121.4(KRT1):c.1669_1689del (p.Ser557_Gly563del)
|
rs267607656
|
|
NM_006121.4(KRT1):c.1751dup (p.Ser584fs)
|
rs267607425
|
|
NM_006121.4(KRT1):c.1762A>G (p.Arg588Gly)
|
rs60526003
|
|
NM_006121.4(KRT1):c.221A>T (p.Lys74Ile)
|
rs57977969
|
|
NM_006121.4(KRT1):c.464T>A (p.Val155Asp)
|
rs57959072
|
|
NM_006121.4(KRT1):c.464T>G (p.Val155Gly)
|
rs57959072
|
|
NM_006121.4(KRT1):c.482T>C (p.Leu161Pro)
|
rs57695159
|
|
NM_006121.4(KRT1):c.507_518del (p.Asp170_Ile173del)
|
rs267607423
|
|
NM_006121.4(KRT1):c.508_519del (p.Asp170_Ile173del)
|
rs267607426
|
|
NM_006121.4(KRT1):c.531G>T (p.Lys177Asn)
|
rs58381018
|
|
NM_006121.4(KRT1):c.536G>C (p.Arg179Pro)
|
rs59044845
|
|
NM_006121.4(KRT1):c.556T>C (p.Ser186Pro)
|
rs60022878
|
|
NM_006121.4(KRT1):c.559C>T (p.Leu187Phe)
|
rs59151464
|
|
NM_006121.4(KRT1):c.563A>C (p.Asn188Thr)
|
rs58928370
|
|
NM_006121.4(KRT1):c.563A>G (p.Asn188Ser)
|
rs58928370
|
|
NM_006121.4(KRT1):c.564C>A (p.Asn188Lys)
|
rs59429455
|
|
NM_006121.4(KRT1):c.571T>A (p.Phe191Ile)
|
rs59022806
|
|
NM_006121.4(KRT1):c.572T>G (p.Phe191Cys)
|
rs58008716
|
|
NM_006121.4(KRT1):c.573T>G (p.Phe191Leu)
|
rs59208902
|
|
NM_006121.4(KRT1):c.577T>C (p.Ser193Pro)
|
rs60937700
|
|
NM_006121.4(KRT1):c.591+1G>A
|
rs267607422
|
|
NM_006121.4(KRT1):c.591+1G>C
|
rs267607422
|
|
NM_006121.4(KRT1):c.591+2T>A
|
rs267607424
|
|
NM_006121.4(KRT1):c.591+3_591+6del
|
rs267607427
|
|
NM_006121.4(KRT1):c.623T>C (p.Leu208Pro)
|
rs61616632
|
|
NM_006121.4(KRT1):c.641T>C (p.Leu214Pro)
|
rs61549035
|
|
NM_006121.4(KRT1):c.693T>G (p.Phe231Leu)
|
rs267607429
|
|
NM_006121.4(KRT1):c.698C>T (p.Ser233Leu)
|
rs60297570
|
|
NM_006121.4(KRT1):c.720G>A (p.Arg240=)
|
rs1050871
|
|
NM_006158.5(NEFL):c.-44_-42delinsATG
|
rs267607675
|
|
NM_006158.5(NEFL):c.-54TC[3]
|
rs267607678
|
|
NM_006158.5(NEFL):c.1045-19dup
|
rs267607676
|
|
NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys)
|
rs62636503
|
|
NM_006158.5(NEFL):c.1189G>A (p.Glu397Lys)
|
rs57105105
|
|
NM_006158.5(NEFL):c.1329C>A (p.Tyr443Ter)
|
rs140532785
|
|
NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del)
|
rs3832558
|
|
NM_006158.5(NEFL):c.1576dup (p.Glu526fs)
|
rs267607536
|
|
NM_006158.5(NEFL):c.189G>A (p.Ser63=)
|
rs59408749
|
|
NM_006158.5(NEFL):c.227T>A (p.Val76Glu)
|
rs58907919
|
|
NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg)
|
rs60261494
|
|
NM_006158.5(NEFL):c.23C>A (p.Pro8Gln)
|
rs61491953
|
|
NM_006158.5(NEFL):c.23C>G (p.Pro8Arg)
|
rs61491953
|
|
NM_006158.5(NEFL):c.23C>T (p.Pro8Leu)
|
rs61491953
|
|
NM_006158.5(NEFL):c.268G>A (p.Glu90Lys)
|
rs58332872
|
|
NM_006158.5(NEFL):c.281T>C (p.Leu94Pro)
|
rs62636505
|
|
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)
|
rs58982919
|
|
NM_006158.5(NEFL):c.418G>T (p.Glu140Ter)
|
rs121913663
|
|
NM_006158.5(NEFL):c.446C>T (p.Ala149Val)
|
rs59101996
|
|
NM_006158.5(NEFL):c.48_60dup (p.Thr21fs)
|
rs58640772
|
|
NM_006158.5(NEFL):c.64C>A (p.Pro22Thr)
|
rs28928910
|
|
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)
|
rs28928910
|
|
NM_006158.5(NEFL):c.65C>G (p.Pro22Arg)
|
rs267607538
|
|
NM_006158.5(NEFL):c.803T>C (p.Leu268Pro)
|
rs62636502
|
|
NM_006158.5(NEFL):c.963_977del (p.Cys322_Asn326del)
|
rs267607537
|
|
NM_006158.5(NEFL):c.969G>T (p.Arg323=)
|
rs62636521
|
|
NM_006158.5(NEFL):c.995A>C (p.Gln332Pro)
|
rs59443585
|
|
NM_006158.5(NEFL):c.998T>C (p.Leu333Pro)
|
rs60930717
|
|
NM_006262.4(PRPH):c.-23G>C
|
rs267607670
|
|
NM_006262.4(PRPH):c.1217+34G>A
|
rs267607532
|
|
NM_006262.4(PRPH):c.1348-36dup
|
rs267607672
|
|
NM_006262.4(PRPH):c.229del (p.Arg77fs)
|
rs56843567
|
|
NM_006262.4(PRPH):c.547T>C (p.Leu183=)
|
rs267607530
|
|
NM_006262.4(PRPH):c.606+52T>G
|
rs267607673
|
|
NM_006262.4(PRPH):c.607-77A>C
|
rs267607671
|
|
NM_006262.4(PRPH):c.703-13C>T
|
rs267607529
|
|
NM_021076.4(NEFH):c.1054C>A (p.Arg352Ser)
|
rs149955255
|
|
NM_021076.4(NEFH):c.1203T>C (p.Ala401=)
|
rs267607674
|
|
NM_021076.4(NEFH):c.1375G>A (p.Glu459Lys)
|
rs59297913
|
|
NM_021076.4(NEFH):c.1554A>C (p.Ser518=)
|
rs58260068
|
|
NM_021076.4(NEFH):c.1836A>C (p.Ala612=)
|
rs58554387
|
|
NM_021076.4(NEFH):c.1878A>C (p.Ala626=)
|
rs58779095
|
|
NM_021076.4(NEFH):c.1965_1988del (p.Glu658_Lys665del)
|
rs267607533
|
|
NM_021076.4(NEFH):c.1989_2006del (p.Glu664_Pro669del)
|
rs267607534
|
|
NM_021076.4(NEFH):c.2015CAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGG[1] (p.672AEAKSPEKAKSPVK[1])
|
rs606231212
|
|
NM_021076.4(NEFH):c.2232_2249del (p.746_751SPEKAK[1])
|
rs59890097
|
|
NM_021076.4(NEFH):c.2234A>T (p.Lys745Met)
|
rs57188573
|
|
NM_021076.4(NEFH):c.472C>T (p.Leu158=)
|
rs61056527
|
|
NM_032737.4(LMNB2):c.142G>A (p.Glu48Lys)
|
rs58992194
|
|
NM_057088.3(KRT3):c.1493A>T (p.Glu498Val)
|
rs267607431
|
|
NM_057088.3(KRT3):c.1508G>C (p.Arg503Pro)
|
rs60410063
|
|
NM_153490.3(KRT13):c.323T>C (p.Met108Thr)
|
rs60364670
|
|
NM_153490.3(KRT13):c.332T>C (p.Leu111Pro)
|
rs59897026
|
|
NM_153490.3(KRT13):c.335A>G (p.Asn112Ser)
|
rs59970018
|
|
NM_153490.3(KRT13):c.344T>C (p.Leu115Pro)
|
rs60906702
|
|
NM_153490.3(KRT13):c.356T>C (p.Leu119Pro)
|
rs60440396
|
|
NM_170707.3(LMNA):c.781_783delAAGins18 (p.?)
|
|
|
NM_170707.4(LMNA):c.*79G>C
|
rs7339
|
|
NM_170707.4(LMNA):c.-3_12del (p.Met1_Pro4del)
|
rs267607546
|
|
NM_170707.4(LMNA):c.1039G>A (p.Glu347Lys)
|
rs267607548
|
|
NM_170707.4(LMNA):c.103C>G (p.Leu35Val)
|
rs56694480
|
|
NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu)
|
rs58789393
|
|
NM_170707.4(LMNA):c.1048G>C (p.Ala350Pro)
|
rs267607610
|
|
NM_170707.4(LMNA):c.104T>C (p.Leu35Pro)
|
rs267607644
|
|
NM_170707.4(LMNA):c.1057C>A (p.Gln353Lys)
|
rs267607623
|
|
NM_170707.4(LMNA):c.1058AGC[2] (p.Gln355del)
|
rs267607635
|
|
NM_170707.4(LMNA):c.1063C>T (p.Gln355Ter)
|
rs267607617
|
|
NM_170707.4(LMNA):c.1069G>C (p.Asp357His)
|
rs267607567
|
|
NM_170707.4(LMNA):c.106C>T (p.Gln36Ter)
|
rs267607601
|
|
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)
|
rs60458016
|
|
NM_170707.4(LMNA):c.1072G>T (p.Glu358Ter)
|
rs60458016
|
|
NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys)
|
rs267607634
|
|
NM_170707.4(LMNA):c.1086del (p.Leu363fs)
|
rs58389804
|
|
NM_170707.4(LMNA):c.1102_1130dup (p.Lys378fs)
|
rs267607624
|
|
NM_170707.4(LMNA):c.1112T>A (p.Met371Lys)
|
rs59653062
|
|
NM_170707.4(LMNA):c.1114del (p.Glu372fs)
|
rs267607575
|
|
NM_170707.4(LMNA):c.1130G>A (p.Arg377His)
|
rs61672878
|
|
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu)
|
rs61672878
|
|
NM_170707.4(LMNA):c.1139T>C (p.Leu380Ser)
|
rs121912495
|
|
NM_170707.4(LMNA):c.1142A>C (p.Glu381Ala)
|
rs267607558
|
|
NM_170707.4(LMNA):c.1146C>T (p.Gly382=)
|
rs57508089
|
|
NM_170707.4(LMNA):c.1157+1G>A
|
rs267607590
|
|
NM_170707.4(LMNA):c.1157G>A (p.Arg386Lys)
|
rs267607545
|
|
NM_170707.4(LMNA):c.1157G>T (p.Arg386Met)
|
rs267607545
|
|
NM_170707.4(LMNA):c.1158-2A>G
|
rs267607636
|
|
NM_170707.4(LMNA):c.1159C>G (p.Leu387Val)
|
rs267607562
|
|
NM_170707.4(LMNA):c.115A>T (p.Asn39Tyr)
|
rs267607627
|
|
NM_170707.4(LMNA):c.1162C>T (p.Arg388Cys)
|
rs58133342
|
|
NM_170707.4(LMNA):c.116A>G (p.Asn39Ser)
|
rs57983345
|
|
NM_170707.4(LMNA):c.1187A>G (p.Gln396Arg)
|
rs61693978
|
|
NM_170707.4(LMNA):c.11C>G (p.Pro4Arg)
|
rs267607620
|
|
NM_170707.4(LMNA):c.1232G>A (p.Gly411Asp)
|
rs267607647
|
|
NM_170707.4(LMNA):c.127G>A (p.Ala43Thr)
|
rs60446065
|
|
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter)
|
rs267607618
|
|
NM_170707.4(LMNA):c.1304_1307dup (p.Ser437fs)
|
rs267607577
|
|
NM_170707.4(LMNA):c.1337A>T (p.Asp446Val)
|
rs58541611
|
|
NM_170707.4(LMNA):c.1346G>A (p.Gly449Asp)
|
rs267607637
|
|
NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys)
|
rs58436778
|
|
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)
|
rs58932704
|
|
NM_170707.4(LMNA):c.1358G>C (p.Arg453Pro)
|
rs267607598
|
|
NM_170707.4(LMNA):c.1361T>C (p.Leu454Pro)
|
rs267607638
|
|
NM_170707.4(LMNA):c.1364G>C (p.Arg455Pro)
|
rs267607597
|
|
NM_170707.4(LMNA):c.1365CAA[1] (p.Asn456del)
|
rs267607550
|
|
NM_170707.4(LMNA):c.1366A>G (p.Asn456Asp)
|
rs267607599
|
|
NM_170707.4(LMNA):c.1367A>T (p.Asn456Ile)
|
rs60992550
|
|
NM_170707.4(LMNA):c.1368C>A (p.Asn456Lys)
|
rs61235244
|
|
NM_170707.4(LMNA):c.136A>G (p.Ile46Val)
|
rs267607615
|
|
NM_170707.4(LMNA):c.1370del (p.Lys457fs)
|
rs267607549
|
|
NM_170707.4(LMNA):c.1380+1G>A
|
rs267607552
|
|
NM_170707.4(LMNA):c.1381-2A>G
|
rs267607600
|
|
NM_170707.4(LMNA):c.1381-8C>G
|
rs267607683
|
|
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp)
|
rs61282106
|
|
NM_170707.4(LMNA):c.1397del (p.Asn466fs)
|
rs58100028
|
|
NM_170707.4(LMNA):c.1399T>C (p.Trp467Arg)
|
rs267607639
|
|
NM_170707.4(LMNA):c.139G>C (p.Asp47His)
|
rs267607608
|
|
NM_170707.4(LMNA):c.1406T>C (p.Ile469Thr)
|
rs57394692
|
|
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly)
|
rs28928902
|
|
NM_170707.4(LMNA):c.1422_1424dup (p.Gly474_Asp475insGlu)
|
rs267607579
|
|
NM_170707.4(LMNA):c.1441T>C (p.Tyr481His)
|
rs57747780
|
|
NM_170707.4(LMNA):c.1443C>G (p.Tyr481Ter)
|
rs56935051
|
|
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu)
|
rs11575937
|
|
NM_170707.4(LMNA):c.1458G>C (p.Lys486Asn)
|
rs59981161
|
|
NM_170707.4(LMNA):c.1458G>T (p.Lys486Asn)
|
rs59981161
|
|
NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter)
|
rs56699480
|
|
NM_170707.4(LMNA):c.1488+1G>A
|
rs267607640
|
|
NM_170707.4(LMNA):c.1488+5G>A
|
rs267607543
|
|
NM_170707.4(LMNA):c.1488+5G>C
|
rs267607543
|
|
NM_170707.4(LMNA):c.148C>A (p.Arg50Ser)
|
rs59931416
|
|
NM_170707.4(LMNA):c.1492T>A (p.Trp498Arg)
|
rs267607585
|
|
NM_170707.4(LMNA):c.1494G>T (p.Trp498Cys)
|
rs57730570
|
|
NM_170707.4(LMNA):c.1495del (p.Ala499fs)
|
rs60556110
|
|
NM_170707.4(LMNA):c.1496del (p.Ala499fs)
|
rs267607580
|
|
NM_170707.4(LMNA):c.149G>C (p.Arg50Pro)
|
rs60695352
|
|
NM_170707.4(LMNA):c.1513_1514insGA (p.Thr505fs)
|
rs267607553
|
|
NM_170707.4(LMNA):c.1516C>G (p.His506Asp)
|
rs267607565
|
|
NM_170707.4(LMNA):c.1526dup (p.Thr510fs)
|
rs58013325
|
|
NM_170707.4(LMNA):c.1535T>C (p.Leu512Pro)
|
rs57877560
|
|
NM_170707.4(LMNA):c.1558T>G (p.Trp520Gly)
|
rs267607557
|
|
NM_170707.4(LMNA):c.1559G>C (p.Trp520Ser)
|
rs58362413
|
|
NM_170707.4(LMNA):c.155T>C (p.Leu52Pro)
|
rs267607611
|
|
NM_170707.4(LMNA):c.1576_1579dup (p.Arg527fs)
|
rs58571998
|
|
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)
|
rs57520892
|
|
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)
|
rs57629361
|
|
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg)
|
rs57629361
|
|
NM_170707.4(LMNA):c.1585G>A (p.Ala529Thr)
|
rs121912494
|
|
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val)
|
rs60580541
|
|
NM_170707.4(LMNA):c.1589T>C (p.Leu530Pro)
|
rs60934003
|
|
NM_170707.4(LMNA):c.158A>T (p.Glu53Val)
|
rs60290646
|
|
NM_170707.4(LMNA):c.1608+1G>A
|
rs267607592
|
|
NM_170707.4(LMNA):c.1608+5G>C
|
rs267607539
|
|
NM_170707.4(LMNA):c.1609-12T>G
|
rs267607582
|
|
NM_170707.4(LMNA):c.1609-3C>G
|
rs267607581
|
|
NM_170707.4(LMNA):c.1609-5A>G
|
rs267607680
|
|
NM_170707.4(LMNA):c.1619T>C (p.Met540Thr)
|
rs267607547
|
|
NM_170707.4(LMNA):c.1621C>A (p.Arg541Ser)
|
rs56984562
|
|
NM_170707.4(LMNA):c.1621C>G (p.Arg541Gly)
|
rs56984562
|
|
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys)
|
rs56984562
|
|
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)
|
rs61444459
|
|
NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro)
|
rs61444459
|
|
NM_170707.4(LMNA):c.1626G>C (p.Lys542Asn)
|
rs56673169
|
|
NM_170707.4(LMNA):c.169G>C (p.Ala57Pro)
|
rs28928903
|
|
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter)
|
rs61046466
|
|
NM_170707.4(LMNA):c.1733A>T (p.Glu578Val)
|
rs61224243
|
|
NM_170707.4(LMNA):c.1762T>C (p.Cys588Arg)
|
rs267607621
|
|
NM_170707.4(LMNA):c.176T>G (p.Leu59Arg)
|
rs58922911
|
|
NM_170707.4(LMNA):c.1772G>T (p.Cys591Phe)
|
rs267607556
|
|
NM_170707.4(LMNA):c.178C>G (p.Arg60Gly)
|
rs28928900
|
|
NM_170707.4(LMNA):c.1821G>A (p.Val607=)
|
rs59886214
|
|
NM_170707.4(LMNA):c.1822G>A (p.Gly608Ser)
|
rs61064130
|
|
NM_170707.4(LMNA):c.1824C>T (p.Gly608=)
|
rs58596362
|
|
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly)
|
rs56793579
|
|
NM_170707.4(LMNA):c.1868C>G (p.Thr623Ser)
|
rs59267781
|
|
NM_170707.4(LMNA):c.188T>A (p.Ile63Asn)
|
rs57793737
|
|
NM_170707.4(LMNA):c.188T>G (p.Ile63Ser)
|
rs57793737
|
|
NM_170707.4(LMNA):c.1904G>A (p.Gly635Asp)
|
rs267607612
|
|
NM_170707.4(LMNA):c.1930C>A (p.Arg644Ser)
|
rs142000963
|
|
NM_170707.4(LMNA):c.1961dup (p.Thr655fs)
|
rs863225024
|
|
NM_170707.4(LMNA):c.1968+1G>A
|
rs113436208
|
|
NM_170707.4(LMNA):c.203_208del (p.Glu68_Val69del)
|
rs267607586
|
|
NM_170707.4(LMNA):c.244G>A (p.Glu82Lys)
|
rs59270054
|
|
NM_170707.4(LMNA):c.254T>G (p.Leu85Arg)
|
rs28933090
|
|
NM_170707.4(LMNA):c.265C>T (p.Arg89Cys)
|
rs267607559
|
|
NM_170707.4(LMNA):c.266G>T (p.Arg89Leu)
|
rs59040894
|
|
NM_170707.4(LMNA):c.289A>G (p.Lys97Glu)
|
rs59065411
|
|
NM_170707.4(LMNA):c.28dup (p.Thr10fs)
|
rs58727209
|
|
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile)
|
rs57077886
|
|
NM_170707.4(LMNA):c.302G>C (p.Arg101Pro)
|
rs267607568
|
|
NM_170707.4(LMNA):c.31del (p.Arg11fs)
|
rs60029152
|
|
NM_170707.4(LMNA):c.331G>T (p.Glu111Ter)
|
rs61726475
|
|
NM_170707.4(LMNA):c.331GAG[1] (p.Glu112del)
|
rs61726474
|
|
NM_170707.4(LMNA):c.348dup (p.Lys117fs)
|
rs267607646
|
|
NM_170707.4(LMNA):c.357-1G>T
|
rs267607569
|
|
NM_170707.4(LMNA):c.373G>A (p.Gly125Ser)
|
rs267607605
|
|
NM_170707.4(LMNA):c.394G>C (p.Ala132Pro)
|
rs61726478
|
|
NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)
|
rs60864230
|
|
NM_170707.4(LMNA):c.398G>T (p.Arg133Leu)
|
rs60864230
|
|
NM_170707.4(LMNA):c.406G>C (p.Asp136His)
|
rs267607619
|
|
NM_170707.4(LMNA):c.412G>A (p.Glu138Lys)
|
rs267607649
|
|
NM_170707.4(LMNA):c.419T>C (p.Leu140Pro)
|
rs60652225
|
|
NM_170707.4(LMNA):c.419T>G (p.Leu140Arg)
|
rs60652225
|
|
NM_170707.4(LMNA):c.427T>C (p.Ser143Pro)
|
rs61661343
|
|
NM_170707.4(LMNA):c.428C>T (p.Ser143Phe)
|
rs58912633
|
|
NM_170707.4(LMNA):c.433G>A (p.Glu145Lys)
|
rs60310264
|
|
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro)
|
rs58917027
|
|
NM_170707.4(LMNA):c.475G>A (p.Glu159Lys)
|
rs267607622
|
|
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)
|
rs28933093
|
|
NM_170707.4(LMNA):c.485T>C (p.Leu162Pro)
|
rs267607594
|
|
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)
|
rs267607570
|
|
NM_170707.4(LMNA):c.506del (p.Val169fs)
|
rs267607595
|
|
NM_170707.4(LMNA):c.513G>A (p.Lys171=)
|
rs267607542
|
|
NM_170707.4(LMNA):c.514-1G>A
|
rs267607589
|
|
NM_170707.4(LMNA):c.548T>C (p.Leu183Pro)
|
rs267607583
|
|
NM_170707.4(LMNA):c.556G>A (p.Glu186Lys)
|
rs61726479
|
|
NM_170707.4(LMNA):c.565CGG[3] (p.Arg190dup)
|
rs267607628
|
|
NM_170707.4(LMNA):c.566_567inv (p.Arg189Pro)
|
|
|
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)
|
rs267607571
|
|
NM_170707.4(LMNA):c.575A>G (p.Asp192Gly)
|
rs57045855
|
|
NM_170707.4(LMNA):c.575A>T (p.Asp192Val)
|
rs57045855
|
|
NM_170707.4(LMNA):c.585C>A (p.Asn195Lys)
|
rs28933091
|
|
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys)
|
rs28933091
|
|
NM_170707.4(LMNA):c.588_596del (p.Arg196_Thr199delinsSer)
|
rs267607541
|
|
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)
|
rs61195471
|
|
NM_170707.4(LMNA):c.608A>G (p.Glu203Gly)
|
rs28933092
|
|
NM_170707.4(LMNA):c.608A>T (p.Glu203Val)
|
rs28933092
|
|
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu)
|
rs267607629
|
|
NM_170707.4(LMNA):c.621GAA[1] (p.Lys208del)
|
rs267607540
|
|
NM_170707.4(LMNA):c.626del (p.Asn209fs)
|
rs62636507
|
|
NM_170707.4(LMNA):c.629T>G (p.Ile210Ser)
|
rs267607572
|
|
NM_170707.4(LMNA):c.640-10A>C
|
rs80356807
|
|
NM_170707.4(LMNA):c.644T>C (p.Leu215Pro)
|
rs61295588
|
|
NM_170707.4(LMNA):c.656A>C (p.Lys219Thr)
|
rs267607584
|
|
NM_170707.4(LMNA):c.664C>T (p.His222Tyr)
|
rs28928901
|
|
NM_170707.4(LMNA):c.665A>C (p.His222Pro)
|
rs58034145
|
|
NM_170707.4(LMNA):c.688G>A (p.Asp230Asn)
|
rs61214927
|
|
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg)
|
rs267607609
|
|
NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)
|
rs57207746
|
|
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter)
|
rs267607573
|
|
NM_170707.4(LMNA):c.723G>A (p.Leu241=)
|
rs58235810
|
|
NM_170707.4(LMNA):c.736C>T (p.Gln246Ter)
|
rs267607587
|
|
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly)
|
rs58327533
|
|
NM_170707.4(LMNA):c.73C>T (p.Arg25Cys)
|
rs58327533
|
|
NM_170707.4(LMNA):c.743T>C (p.Leu248Pro)
|
rs58850446
|
|
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)
|
rs121912496
|
|
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)
|
rs59332535
|
|
NM_170707.4(LMNA):c.74G>C (p.Arg25Pro)
|
rs61578124
|
|
NM_170707.4(LMNA):c.775T>C (p.Tyr259His)
|
rs60578328
|
|
NM_170707.4(LMNA):c.775T>G (p.Tyr259Asp)
|
rs60578328
|
|
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)
|
rs58048078
|
|
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del)
|
rs58978449
|
|
NM_170707.4(LMNA):c.788T>C (p.Leu263Pro)
|
rs267607625
|
|
NM_170707.4(LMNA):c.799T>C (p.Tyr267His)
|
rs267607593
|
|
NM_170707.4(LMNA):c.800A>G (p.Tyr267Cys)
|
rs57048196
|
|
NM_170707.4(LMNA):c.802T>C (p.Ser268Pro)
|
rs267607630
|
|
NM_170707.4(LMNA):c.810+1G>A
|
rs267607632
|
|
NM_170707.4(LMNA):c.810+63C>A
|
rs267607602
|
|
NM_170707.4(LMNA):c.810G>A (p.Lys270=)
|
rs267607631
|
|
NM_170707.4(LMNA):c.811-10T>A
|
rs267607685
|
|
NM_170707.4(LMNA):c.812T>C (p.Leu271Pro)
|
rs267607641
|
|
NM_170707.4(LMNA):c.815_818delinsCCAGAC (p.Asp272fs)
|
rs267607616
|
|
NM_170707.4(LMNA):c.82C>T (p.Arg28Trp)
|
rs59914820
|
|
NM_170707.4(LMNA):c.859del (p.Ala287fs)
|
rs59564495
|
|
NM_170707.4(LMNA):c.864_867del (p.His289fs)
|
rs60168366
|
|
NM_170707.4(LMNA):c.881A>C (p.Gln294Pro)
|
rs61616775
|
|
NM_170707.4(LMNA):c.883T>C (p.Ser295Pro)
|
rs267607633
|
|
NM_170707.4(LMNA):c.896T>C (p.Ile299Thr)
|
rs267607684
|
|
NM_170707.4(LMNA):c.898G>A (p.Asp300Asn)
|
rs267607591
|
|
NM_170707.4(LMNA):c.905T>C (p.Leu302Pro)
|
rs267607596
|
|
NM_170707.4(LMNA):c.907T>C (p.Ser303Pro)
|
rs61527854
|
|
NM_170707.4(LMNA):c.908_909del (p.Ser303fs)
|
rs59684335
|
|
NM_170707.4(LMNA):c.936+1G>T
|
rs267607588
|
|
NM_170707.4(LMNA):c.937-11C>G
|
rs267607645
|
|
NM_170707.4(LMNA):c.94_96del (p.Lys32del)
|
rs60872029
|
|
NM_170707.4(LMNA):c.960del (p.Arg321fs)
|
rs56771886
|
|
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)
|
rs267607554
|
|
NM_170707.4(LMNA):c.98A>G (p.Glu33Gly)
|
rs267607614
|
|
NM_170707.4(LMNA):c.992G>C (p.Arg331Pro)
|
rs59301204
|
|
NM_170707.4(LMNA):c.99G>C (p.Glu33Asp)
|
rs57966821
|
|
NM_170707.4(LMNA):c.99G>T (p.Glu33Asp)
|
rs57966821
|
|
NM_173086.5(KRT6C):c.1384_1410del (p.Ile462_Glu470del)
|
rs267607475
|
|
NM_173086.5(KRT6C):c.510CAA[2] (p.Asn172del)
|
rs267607474
|
|
NM_175053.4(KRT74):c.1391-1G>A
|
rs267607478
|
|
NM_175053.4(KRT74):c.1444G>A (p.Asp482Asn)
|
rs267607477
|
|
NM_175053.4(KRT74):c.444C>G (p.Asn148Lys)
|
rs267607205
|
|