ClinVar Miner

List of variants reported as not provided for not provided by Epithelial Biology; Institute of Medical Biology, Singapore

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1094
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.