ClinVar Miner

List of variants studied for autoimmune disease by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4765
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HGVS dbSNP gnomAD frequency
NM_006254.4(PRKCD):c.1857T>C (p.Pro619=) rs900495 0.94337
NM_006254.4(PRKCD):c.1782C>G (p.Thr594=) rs1075865 0.93819
NC_000021.9:g.44285777T>C rs751032 0.90117
NM_006254.4(PRKCD):c.1441C>T (p.Leu481=) rs2306574 0.75510
NM_000043.6(FAS):c.642T>C (p.Thr214=) rs2234978 0.72086
NM_001372051.1(CASP8):c.1305-19A>G rs3769818 0.71850
NM_006254.4(PRKCD):c.115+21C>G rs2306571 0.65337
NM_001228.5(CASP8):c.-26-8189A>G rs3769823 0.64497
NM_033629.6(TREX1):c.531T>C (p.Tyr177=) rs11797 0.62991
NC_000010.11:g.88990206A>G rs1800682 0.54268
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779 0.49415
NC_000001.11:g.172658358C>T rs763110 0.49239
NM_032977.4(CASP10):c.177A>G (p.Ser59=) rs3900115 0.49172
NM_032977.4(CASP10):c.1564T>A (p.Leu522Ile) rs13006529 0.42733
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) rs231775 0.39951
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39834
NM_033629.6(TREX1):c.531= (p.Tyr177=) rs11797 0.37009
NM_005214.5(CTLA4):c.*1148+236G>A rs3087243 0.36123
NM_001370466.1(NOD2):c.453C>G (p.Ser151=) rs2067085 0.35090
NM_001370466.1(NOD2):c.1680T>G (p.Arg560=) rs1861759 0.32445
NM_006254.4(PRKCD):c.1119G>A (p.Glu373=) rs2230494 0.29106
NM_007315.4(STAT1):c.1874-8C>T rs2066804 0.22007
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081 0.18544
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964 0.18036
NM_001370466.1(NOD2):c.721C>T (p.Pro241Ser) rs2066842 0.17968
NM_001370466.1(NOD2):c.1296C>T (p.Arg432=) rs2066843 0.17266
NC_000002.12:g.203866796C>T rs16840252 0.16493
NM_006254.4(PRKCD):c.180T>C (p.Asp60=) rs2230493 0.12323
NM_006254.4(PRKCD):c.1260+19G>A rs41275531 0.10858
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
NM_001370466.1(NOD2):c.2717+158C>T rs5743289 0.10180
NM_001372051.1(CASP8):c.960G>A (p.Lys320=) rs1045487 0.09873
NM_032977.4(CASP10):c.923-3C>T rs6753900 0.06908
NC_000002.12:g.203867624C>T rs5742909 0.06759
NM_007315.4(STAT1):c.63T>C (p.Leu21=) rs2066802 0.06562
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_000639.3(FASLG):c.147G>A (p.Pro49=) rs61756244 0.05080
NM_000383.4(AIRE):c.1203T>C (p.Pro401=) rs61737072 0.05045
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile) rs13010627 0.04350
NM_033629.6(TREX1):c.912G>A (p.Leu304=) rs3135945 0.04049
NM_000043.6(FAS):c.46G>A (p.Ala16Thr) rs3218619 0.03995
NM_000043.6(FAS):c.222A>G (p.Thr74=) rs2229521 0.03925
NM_032977.4(CASP10):c.685-20C>T rs17860401 0.03338
NM_006254.4(PRKCD):c.1926G>A (p.Ala642=) rs56338517 0.03080
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367 0.03006
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02936
NM_032977.4(CASP10):c.1337A>G (p.Tyr446Cys) rs17860405 0.02926
NM_000043.6(FAS):c.141G>A (p.Gln47=) rs3218621 0.02156
NM_000383.4(AIRE):c.1096-9G>C rs113512196 0.01593
NM_007315.4(STAT1):c.634-16C>T rs45479293 0.01475
NM_001370466.1(NOD2):c.2381+10A>C rs72796353 0.01447
NM_014009.4(FOXP3):c.648-20G>A rs2232368 0.01436
NM_001370466.1(NOD2):c.2093C>G (p.Ala698Gly) rs5743278 0.01319
NM_000383.4(AIRE):c.652+14C>T rs41277546 0.01242
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
NM_000043.6(FAS):c.505+16C>T rs3218620 0.01048
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615 0.01042
NM_001370466.1(NOD2):c.2288G>A (p.Arg763Gln) rs5743279 0.01035
NM_001370466.1(NOD2):c.1372C>T (p.Leu458=) rs5743274 0.01031
NM_001370466.1(NOD2):c.1752C>T (p.Ala584=) rs61736932 0.00840
NM_000383.4(AIRE):c.1279-18C>T rs72650678 0.00839
NM_001370466.1(NOD2):c.460-3T>C rs141833420 0.00836
NM_000043.6(FAS):c.365C>T (p.Thr122Ile) rs3218614 0.00774
NM_005214.5(CTLA4):c.75G>C (p.Leu25=) rs16840275 0.00761
NM_006254.4(PRKCD):c.741C>T (p.Cys247=) rs55709737 0.00741
NM_001370466.1(NOD2):c.337G>A (p.Ala113Thr) rs34684955 0.00726
NM_001370466.1(NOD2):c.2042G>A (p.Arg681His) rs35285618 0.00681
NM_033629.6(TREX1):c.462T>C (p.Asp154=) rs3135944 0.00613
NM_000043.6(FAS):c.183G>A (p.Lys61=) rs3218613 0.00606
NM_007315.4(STAT1):c.1097+10C>G rs41488044 0.00594
NM_000383.4(AIRE):c.497C>T (p.Pro166Leu) rs11910214 0.00580
NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser) rs5743271 0.00557
NM_006254.4(PRKCD):c.214G>C (p.Val72Leu) rs151061939 0.00535
NM_000043.6(FAS):c.369G>A (p.Gln123=) rs28362318 0.00529
NM_007315.4(STAT1):c.1314A>G (p.Gln438=) rs138091660 0.00495
NM_033629.6(TREX1):c.198G>A (p.Lys66=) rs3135943 0.00490
NM_007315.4(STAT1):c.2136T>G (p.Val712=) rs35364817 0.00465
NM_032977.4(CASP10):c.1068G>T (p.Leu356=) rs111489269 0.00455
NM_000383.4(AIRE):c.1401-11C>T rs371136111 0.00444
NM_006254.4(PRKCD):c.1554+8G>A rs141412493 0.00429
NM_001372051.1(CASP8):c.306-1918T>C rs11897628 0.00421
NM_000383.4(AIRE):c.548C>A (p.Thr183Asn) rs34219046 0.00411
NM_000383.4(AIRE):c.595G>A (p.Val199Ile) rs74162061 0.00404
NM_001370466.1(NOD2):c.2466-11G>T rs5743285 0.00402
NM_001370466.1(NOD2):c.974A>G (p.His325Arg) rs5743272 0.00389
NM_001370466.1(NOD2):c.735C>T (p.Ser245=) rs35090774 0.00360
NM_007315.4(STAT1):c.2019A>G (p.Lys673=) rs35098579 0.00351
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) rs5743277 0.00340
NM_007315.4(STAT1):c.633+6T>A rs45459703 0.00335
NM_007315.4(STAT1):c.463-8G>C rs2066794 0.00329
NM_000043.6(FAS):c.550A>G (p.Ile184Val) rs28362322 0.00324
NM_001372051.1(CASP8):c.339C>T (p.Ser113=) rs17860422 0.00309
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) rs61747625 0.00307
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu) rs80358239 0.00307
NM_000383.4(AIRE):c.1116G>A (p.Ser372=) rs61737006 0.00304
NM_000383.4(AIRE):c.1400+10C>T rs372277949 0.00304
NM_032977.4(CASP10):c.1296C>T (p.Ala432=) rs41331850 0.00298
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met) rs61755182 0.00291
NM_007315.4(STAT1):c.1155G>A (p.Thr385=) rs41270237 0.00280
NM_007315.4(STAT1):c.1347+8T>G rs16833147 0.00274
NM_032977.4(CASP10):c.1415+18T>A rs111608359 0.00274
NM_001370466.1(NOD2):c.1188G>T (p.Val396=) rs77966199 0.00273
NM_007315.4(STAT1):c.990G>A (p.Gln330=) rs41509946 0.00272
NM_006254.4(PRKCD):c.1260+6C>T rs180706867 0.00270
NM_007315.4(STAT1):c.796G>A (p.Val266Ile) rs41473544 0.00251
NM_014009.4(FOXP3):c.324G>A (p.Thr108=) rs111856931 0.00245
NM_000383.4(AIRE):c.1507G>A (p.Asp503Asn) rs145370269 0.00241
NM_001372051.1(CASP8):c.655T>A (p.Ser219Thr) rs35976359 0.00241
NM_032977.4(CASP10):c.534A>C (p.Val178=) rs146233833 0.00226
NM_007315.4(STAT1):c.1257G>A (p.Thr419=) rs73979321 0.00224
NM_007315.4(STAT1):c.793A>G (p.Ile265Val) rs148775168 0.00223
NM_000383.4(AIRE):c.1296G>A (p.Ala432=) rs144359012 0.00222
NM_000383.4(AIRE):c.880-18G>A rs139659079 0.00213
NM_000383.4(AIRE):c.1199C>T (p.Pro400Leu) rs142366324 0.00212
NM_000639.3(FASLG):c.451+7A>G rs201525996 0.00210
NM_000383.4(AIRE):c.1566+8C>T rs72650680 0.00206
NM_014009.4(FOXP3):c.648-13T>A rs190739204 0.00201
NM_000383.4(AIRE):c.1065C>T (p.Pro355=) rs201551372 0.00188
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987 0.00184
NM_000383.4(AIRE):c.63C>T (p.Ala21=) rs371796437 0.00176
NM_014009.4(FOXP3):c.210+16C>T rs372471440 0.00165
NM_000383.4(AIRE):c.1567-5C>T rs192215705 0.00158
NM_001370466.1(NOD2):c.2325G>T (p.Val775=) rs104895495 0.00157
NM_001370466.1(NOD2):c.800C>G (p.Thr267Ser) rs104895425 0.00152
NM_014009.4(FOXP3):c.176C>G (p.Ser59Cys) rs199917616 0.00151
NM_007315.4(STAT1):c.1098-17A>G rs182094949 0.00140
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00138
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln) rs104895464 0.00137
NM_000043.6(FAS):c.33T>A (p.Val11=) rs113022949 0.00135
NM_007315.4(STAT1):c.1222-5T>C rs191364028 0.00135
NM_007315.4(STAT1):c.2238+17G>T rs115758905 0.00132
NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln) rs114664276 0.00131
NM_001370466.1(NOD2):c.2296G>A (p.Val766Met) rs104895444 0.00127
NM_032977.4(CASP10):c.722-16G>T rs41500646 0.00121
NM_001370466.1(NOD2):c.2886-16G>C rs199525467 0.00118
NM_000383.4(AIRE):c.1083C>T (p.Pro361=) rs201010030 0.00115
NM_000383.4(AIRE):c.510A>G (p.Ala170=) rs146992760 0.00113
NM_000383.4(AIRE):c.717C>T (p.Ser239=) rs149130190 0.00110
NM_006254.4(PRKCD):c.603C>T (p.Ile201=) rs75794462 0.00108
NM_007315.4(STAT1):c.354C>T (p.Asn118=) rs45463799 0.00106
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_005214.5(CTLA4):c.*375G>A rs13384548 0.00105
NM_006254.4(PRKCD):c.1415+19C>T rs202080219 0.00105
NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu) rs104895431 0.00103
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_000383.4(AIRE):c.789C>T (p.Gly263=) rs138066507 0.00099
NM_000383.4(AIRE):c.901G>A (p.Val301Met) rs150634562 0.00092
NM_001370466.1(NOD2):c.-8-7T>A rs104895421 0.00092
NM_032977.4(CASP10):c.1502C>T (p.Pro501Leu) rs148939095 0.00091
NM_001370466.1(NOD2):c.552C>T (p.Ala184=) rs5743269 0.00090
NM_000639.3(FASLG):c.426G>C (p.Glu142Asp) rs138441486 0.00088
NM_001370466.1(NOD2):c.1707G>A (p.Thr569=) rs104895437 0.00086
NM_000043.6(FAS):c.103T>C (p.Leu35=) rs9333296 0.00083
NM_001372051.1(CASP8):c.1304+12C>T rs375465590 0.00081
NM_000383.4(AIRE):c.1215G>A (p.Pro405=) rs72650676 0.00078
NM_006254.4(PRKCD):c.315+9C>A rs200076653 0.00078
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser) rs104895467 0.00076
NM_001370466.1(NOD2):c.293C>T (p.Pro98Leu) rs149390911 0.00076
NM_001370466.1(NOD2):c.2506A>G (p.Met836Val) rs104895447 0.00073
NM_033629.6(TREX1):c.720G>C (p.Arg240Ser) rs72556555 0.00073
NM_007315.4(STAT1):c.1872C>T (p.Gly624=) rs2230101 0.00070
NM_000383.4(AIRE):c.447G>A (p.Arg149=) rs374704178 0.00069
NM_000383.4(AIRE):c.1118C>T (p.Ala373Val) rs79212994 0.00068
NM_001370466.1(NOD2):c.379G>A (p.Asp127Asn) rs146054564 0.00068
NM_000383.4(AIRE):c.1383C>T (p.Ala461=) rs147485628 0.00066
NM_000383.4(AIRE):c.348G>A (p.Pro116=) rs74162060 0.00066
NM_007315.4(STAT1):c.1127+9C>T rs201370851 0.00066
NM_007315.4(STAT1):c.274-13C>G rs45565836 0.00065
NM_001372051.1(CASP8):c.892A>G (p.Ile298Val) rs146286958 0.00064
NM_006254.4(PRKCD):c.1043A>G (p.Asn348Ser) rs33911937 0.00064
NM_006254.4(PRKCD):c.1447C>T (p.Arg483Trp) rs35891605 0.00063
NM_000383.4(AIRE):c.1503+16G>A rs565087801 0.00058
NM_006254.4(PRKCD):c.539+13C>T rs200442846 0.00058
NM_032977.4(CASP10):c.1415+16T>C rs201336330 0.00058
NM_001370466.1(NOD2):c.1330C>T (p.Arg444Cys) rs1078327 0.00057
NM_001370466.1(NOD2):c.-8-2174C>T rs149122717 0.00056
NM_007315.4(STAT1):c.1263+7G>A rs56228116 0.00056
NM_032977.4(CASP10):c.347+8C>T rs140246829 0.00056
NM_001370466.1(NOD2):c.2057G>A (p.Arg686His) rs104895483 0.00055
NM_006254.4(PRKCD):c.1705C>T (p.Arg569Cys) rs141992569 0.00055
NM_014009.4(FOXP3):c.155G>T (p.Gly52Val) rs17847095 0.00055
NM_000383.4(AIRE):c.1476C>T (p.Pro492=) rs72650679 0.00054
NM_000639.3(FASLG):c.108G>A (p.Val36=) rs140595317 0.00054
NM_007315.4(STAT1):c.1727+12C>T rs201733976 0.00053
NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp) rs104895452 0.00051
NM_001370466.1(NOD2):c.486G>A (p.Thr162=) rs144887729 0.00051
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp) rs104895427 0.00051
NM_001372051.1(CASP8):c.789A>G (p.Thr263=) rs35142591 0.00051
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser) rs113107733 0.00051
NM_006254.4(PRKCD):c.1362C>T (p.Ala454=) rs41295962 0.00050
NM_007315.4(STAT1):c.634-13C>T rs200380549 0.00050
NM_001370466.1(NOD2):c.193G>A (p.Val65Ile) rs187264529 0.00048
NM_007315.4(STAT1):c.1591G>A (p.Ala531Thr) rs148573907 0.00048
NM_000383.4(AIRE):c.1567-18C>T rs372108131 0.00047
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro) rs112741962 0.00047
NM_001370466.1(NOD2):c.3013G>A (p.Gly1005Ser) rs147874812 0.00046
NM_006254.4(PRKCD):c.1500C>T (p.Phe500=) rs149751382 0.00046
NM_022162.2(NOD2):c.241C>G (p.Leu81Val) rs34936594 0.00046
NM_006254.4(PRKCD):c.1415+7G>C rs78905675 0.00043
NM_001370466.1(NOD2):c.1464G>T (p.Leu488=) rs553575063 0.00042
NM_007315.4(STAT1):c.1098-11T>A rs369780737 0.00042
NM_007315.4(STAT1):c.722G>A (p.Arg241Gln) rs146273341 0.00042
NM_000383.4(AIRE):c.1437G>A (p.Val479=) rs181029582 0.00041
NM_001370466.1(NOD2):c.1693G>A (p.Val565Met) rs148683734 0.00041
NM_001370466.1(NOD2):c.258C>T (p.Asp86=) rs138889062 0.00041
NM_006254.4(PRKCD):c.68C>T (p.Ala23Val) rs144572650 0.00041
NM_006254.4(PRKCD):c.787+14C>T rs376532118 0.00041
NM_006254.4(PRKCD):c.1213G>A (p.Ala405Thr) rs150331740 0.00040
NM_000383.4(AIRE):c.1279-19G>A rs369136366 0.00039
NM_001370466.1(NOD2):c.-8-2232G>C rs140977130 0.00039
NM_001370466.1(NOD2):c.2490C>T (p.Asp830=) rs144083291 0.00039
NM_000043.6(FAS):c.505+14T>G rs76988052 0.00038
NM_000639.3(FASLG):c.395-15C>G rs370579312 0.00038
NM_006254.4(PRKCD):c.1743+8C>T rs182290450 0.00038
NM_000383.4(AIRE):c.599C>T (p.Pro200Leu) rs140196414 0.00036
NM_006254.4(PRKCD):c.1244G>A (p.Cys415Tyr) rs35181307 0.00036
NM_000383.4(AIRE):c.521G>A (p.Arg174His) rs145732243 0.00035
NM_001370466.1(NOD2):c.2886-11T>G rs200519856 0.00035
NM_000639.3(FASLG):c.174G>A (p.Pro58=) rs372411796 0.00034
NM_000639.3(FASLG):c.364C>A (p.His122Asn) rs140406512 0.00034
NM_001370466.1(NOD2):c.1240G>A (p.Glu414Lys) rs104895432 0.00034
NM_033629.6(TREX1):c.183G>A (p.Pro61=) rs55852466 0.00034
NM_000639.3(FASLG):c.280T>G (p.Leu94Val) rs56302117 0.00033
NM_032977.4(CASP10):c.1202_1208del (p.Cys401fs) rs747900630 0.00033
NM_000383.4(AIRE):c.457A>G (p.Ser153Gly) rs200377867 0.00032
NM_001370466.1(NOD2):c.1096C>T (p.Arg366Cys) rs140716236 0.00032
NM_001370466.1(NOD2):c.1969C>T (p.Arg657Trp) rs5743276 0.00032
NM_000383.4(AIRE):c.1303G>A (p.Gly435Arg) rs373993732 0.00031
NM_001370466.1(NOD2):c.2295C>T (p.Pro765=) rs5743280 0.00031
NM_000639.3(FASLG):c.259T>C (p.Phe87Leu) rs530390117 0.00030
NM_006254.4(PRKCD):c.1691C>T (p.Thr564Met) rs146289210 0.00030
NM_007315.4(STAT1):c.1116T>C (p.Asn372=) rs55891000 0.00030
NM_007315.4(STAT1):c.1127+10G>A rs140665796 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000383.4(AIRE):c.133-11C>A rs372109674 0.00029
NM_000639.3(FASLG):c.796C>T (p.Leu266=) rs35178418 0.00029
NM_006254.4(PRKCD):c.395G>A (p.Arg132His) rs200939049 0.00029
NM_000043.6(FAS):c.958A>G (p.Ser320Gly) rs146209060 0.00028
NM_000383.4(AIRE):c.982C>T (p.Arg328Trp) rs74162063 0.00028
NM_001370466.1(NOD2):c.2100G>A (p.Pro700=) rs144468550 0.00028
NM_001370466.1(NOD2):c.760C>T (p.Leu254Phe) rs756943416 0.00027
NM_000043.6(FAS):c.578A>G (p.Lys193Arg) rs150489856 0.00026
NM_000383.4(AIRE):c.996-7C>T rs568895777 0.00026
NM_000639.3(FASLG):c.360G>C (p.Gln120His) rs372615226 0.00026
NM_000639.3(FASLG):c.828C>T (p.Phe276=) rs144105303 0.00026
NM_001370466.1(NOD2):c.662T>G (p.Leu221Arg) rs104895423 0.00026
NM_014009.4(FOXP3):c.1044+17G>A rs11465478 0.00026
NM_000383.4(AIRE):c.307+13G>A rs371890744 0.00025
NM_000383.4(AIRE):c.507C>T (p.Ser169=) rs566659101 0.00025
NM_007315.4(STAT1):c.825G>A (p.Gln275=) rs61756197 0.00025
NM_032977.4(CASP10):c.683C>T (p.Pro228Leu) rs143882052 0.00025
NM_033629.6(TREX1):c.339G>A (p.Arg113=) rs56400532 0.00025
NM_000383.4(AIRE):c.1344C>T (p.His448=) rs201131119 0.00024
NM_000383.4(AIRE):c.1483C>T (p.Leu495=) rs376909088 0.00024
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn) rs142788946 0.00024
NM_000383.4(AIRE):c.793G>A (p.Ala265Thr) rs140835367 0.00024
NM_001370466.1(NOD2):c.-8-2185C>T rs144993105 0.00024
NM_001370466.1(NOD2):c.1214C>T (p.Ala405Val) rs2076754 0.00024
NM_001370466.1(NOD2):c.1922C>T (p.Pro641Leu) rs5743275 0.00024
NM_001370466.1(NOD2):c.989A>C (p.Asp330Ala) rs104895469 0.00024
NM_007315.4(STAT1):c.1098-19A>G rs112684142 0.00024
NM_007315.4(STAT1):c.1248C>G (p.Gly416=) rs140787216 0.00024
NM_000383.4(AIRE):c.226G>A (p.Asp76Asn) rs146810389 0.00023
NM_001370466.1(NOD2):c.2623C>A (p.Gln875Lys) rs201035873 0.00023
NM_014009.4(FOXP3):c.340C>T (p.Arg114Trp) rs200554980 0.00023
NM_000383.4(AIRE):c.589G>A (p.Gly197Arg) rs148012328 0.00022
NM_000383.4(AIRE):c.912C>T (p.Asp304=) rs149769247 0.00022
NM_001370466.1(NOD2):c.1235G>A (p.Arg412His) rs143110172 0.00022
NM_032977.4(CASP10):c.953G>A (p.Gly318Glu) rs138931498 0.00022
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys) rs145293873 0.00021
NM_001370466.1(NOD2):c.1109C>T (p.Pro370Leu) rs150078153 0.00021
NM_001370466.1(NOD2):c.1245C>T (p.Phe415=) rs151315883 0.00021
NM_005214.5(CTLA4):c.23G>A (p.Arg8Gln) rs138279736 0.00021
NM_005214.5(CTLA4):c.326G>A (p.Gly109Glu) rs144988077 0.00021
NM_005214.5(CTLA4):c.372G>A (p.Thr124=) rs372929906 0.00021
NM_006254.4(PRKCD):c.948C>T (p.Phe316=) rs138049008 0.00021
NM_032977.4(CASP10):c.1347T>C (p.Phe449=) rs147814983 0.00021
NM_000383.4(AIRE):c.169C>G (p.Gln57Glu) rs200955183 0.00020
NM_000383.4(AIRE):c.996-18T>C rs78245838 0.00020
NM_001370466.1(NOD2):c.192C>T (p.Thr64=) rs146923251 0.00020
NM_001370466.1(NOD2):c.2251G>A (p.Glu751Lys) rs104895443 0.00020
NM_007315.4(STAT1):c.2060-11T>C rs192462536 0.00020
NM_032977.4(CASP10):c.853C>T (p.Leu285Phe) rs17860403 0.00020
NM_032977.4(CASP10):c.930G>T (p.Leu310=) rs149096064 0.00020
NM_000383.4(AIRE):c.538+7G>A rs575144370 0.00019
NM_001370466.1(NOD2):c.1200G>A (p.Pro400=) rs104895430 0.00019
NM_001370466.1(NOD2):c.1923G>A (p.Pro641=) rs199475914 0.00019
NM_001372051.1(CASP8):c.443A>G (p.Lys148Arg) rs148697064 0.00019
NM_006254.4(PRKCD):c.1352+4C>T rs202155309 0.00019
NM_006254.4(PRKCD):c.377-12C>T rs181439333 0.00019
NM_007315.4(STAT1):c.1098-13del rs769691301 0.00019
NM_014009.4(FOXP3):c.874G>A (p.Val292Ile) rs74162067 0.00019
NM_000043.6(FAS):c.914C>T (p.Thr305Ile) rs3218611 0.00018
NM_001370466.1(NOD2):c.2066G>A (p.Arg689His) rs200035357 0.00018
NM_001370466.1(NOD2):c.59C>T (p.Ser20Leu) rs201586544 0.00018
NM_005214.5(CTLA4):c.516G>A (p.Ser172=) rs375949600 0.00018
NM_014009.4(FOXP3):c.455-6C>T rs373767482 0.00018
NM_000383.4(AIRE):c.1244A>G (p.His415Arg) rs149609996 0.00017
NM_000383.4(AIRE):c.538+6C>T rs371847563 0.00017
NM_001370466.1(NOD2):c.2381+7G>T rs202111813 0.00017
NM_001372051.1(CASP8):c.432A>G (p.Ile144Met) rs149933993 0.00017
NM_000383.4(AIRE):c.1066C>T (p.Arg356Trp) rs376901046 0.00016
NM_000383.4(AIRE):c.180C>T (p.His60=) rs201591958 0.00016
NM_000383.4(AIRE):c.748A>T (p.Ser250Cys) rs141480813 0.00016
NM_000383.4(AIRE):c.908G>A (p.Arg303Gln) rs139808903 0.00016
NM_001370466.1(NOD2):c.1522C>T (p.Leu508=) rs145190613 0.00016
NM_001370466.1(NOD2):c.1758C>T (p.Phe586=) rs149870902 0.00016
NM_001370466.1(NOD2):c.299C>T (p.Ser100Leu) rs146395646 0.00016
NM_001370466.1(NOD2):c.450G>A (p.Pro150=) rs775281342 0.00016
NM_001370466.1(NOD2):c.665A>G (p.Glu222Gly) rs117836686 0.00016
NM_005214.5(CTLA4):c.457+12C>T rs368427057 0.00016
NM_005214.5(CTLA4):c.457+14T>C rs770198835 0.00016
NM_007315.4(STAT1):c.1728-4C>T rs760805208 0.00016
NM_000383.4(AIRE):c.1312G>A (p.Gly438Arg) rs553396434 0.00015
NM_000383.4(AIRE):c.594C>T (p.Asp198=) rs376083924 0.00015
NM_000383.4(AIRE):c.600G>A (p.Pro200=) rs754331960 0.00015
NM_000383.4(AIRE):c.936C>T (p.Asp312=) rs147889221 0.00015
NM_001370466.1(NOD2):c.46G>A (p.Glu16Lys) rs200089552 0.00015
NM_006254.4(PRKCD):c.372C>T (p.Asp124=) rs148137939 0.00015
NM_032977.4(CASP10):c.913A>G (p.Lys305Glu) rs149912574 0.00015
NM_000383.4(AIRE):c.1095+11G>A rs541854967 0.00014
NM_000383.4(AIRE):c.1104G>A (p.Pro368=) rs377079396 0.00014
NM_000383.4(AIRE):c.1477G>A (p.Ala493Thr) rs561652010 0.00014
NM_000383.4(AIRE):c.1567-17G>A rs376402964 0.00014
NM_000383.4(AIRE):c.538G>A (p.Gly180Arg) rs200899780 0.00014
NM_000383.4(AIRE):c.880-7G>A rs141955483 0.00014
NM_001370466.1(NOD2):c.1118C>T (p.Pro373Leu) rs779346494 0.00014
NM_001370466.1(NOD2):c.1275C>T (p.Ile425=) rs186719861 0.00014
NM_001370466.1(NOD2):c.1710G>A (p.Ala570=) rs140312093 0.00014
NM_001370466.1(NOD2):c.2065C>T (p.Arg689Cys) rs776025574 0.00014
NM_001370466.1(NOD2):c.2149C>T (p.Arg717Trp) rs140876663 0.00014
NM_001370466.1(NOD2):c.2389G>A (p.Asp797Asn) rs61755272 0.00014
NM_001370466.1(NOD2):c.2465+2dup rs748508924 0.00014
NM_001370466.1(NOD2):c.2845G>A (p.Ala949Thr) rs148561632 0.00014
NM_001370466.1(NOD2):c.794C>T (p.Ala265Val) rs149338478 0.00014
NM_006254.4(PRKCD):c.658-5_658-2dup rs782574122 0.00014
NM_007315.4(STAT1):c.1363G>A (p.Val455Ile) rs371982540 0.00014
NM_007315.4(STAT1):c.1632+6G>A rs185216067 0.00014
NM_014009.4(FOXP3):c.112G>T (p.Ala38Ser) rs782239006 0.00014
NM_032977.4(CASP10):c.1297G>A (p.Glu433Lys) rs200540853 0.00014
NM_001370466.1(NOD2):c.1888A>G (p.Ser630Gly) rs150236752 0.00013
NM_001370466.1(NOD2):c.1898C>G (p.Ala633Gly) rs111400183 0.00013
NM_001370466.1(NOD2):c.2718-19G>A rs202059016 0.00013
NM_001370466.1(NOD2):c.2781C>T (p.Asn927=) rs758223679 0.00013
NM_001370466.1(NOD2):c.622C>T (p.Arg208Cys) rs104895422 0.00013
NM_006254.4(PRKCD):c.657+15G>A rs190144895 0.00013
NM_014009.4(FOXP3):c.249G>C (p.Gly83=) rs782210800 0.00013
NM_032977.4(CASP10):c.1415+8C>G rs200638628 0.00013
NM_032977.4(CASP10):c.259C>T (p.Arg87Trp) rs551818122 0.00013
NM_032977.4(CASP10):c.666A>G (p.Thr222=) rs116125703 0.00013
NM_000383.4(AIRE):c.560C>T (p.Ser187Leu) rs143952576 0.00012
NM_001370466.1(NOD2):c.1113C>T (p.Thr371=) rs5743273 0.00012
NM_001370466.1(NOD2):c.232G>A (p.Ala78Thr) rs113706344 0.00012
NM_006254.4(PRKCD):c.899G>A (p.Arg300Gln) rs143488209 0.00012
NM_032977.4(CASP10):c.789T>C (p.Thr263=) rs532602601 0.00012
NM_032977.4(CASP10):c.797C>T (p.Ser266Phe) rs148554420 0.00012
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys) rs370504038 0.00012
NM_000043.6(FAS):c.956C>T (p.Thr319Ile) rs372459755 0.00011
NM_000383.4(AIRE):c.1158C>T (p.Ala386=) rs199555518 0.00011
NM_000383.4(AIRE):c.1200G>A (p.Pro400=) rs377627680 0.00011
NM_000383.4(AIRE):c.1235C>T (p.Ser412Leu) rs368331265 0.00011
NM_000383.4(AIRE):c.1236G>A (p.Ser412=) rs373985995 0.00011
NM_000383.4(AIRE):c.1394G>A (p.Arg465Gln) rs139835427 0.00011
NM_000383.4(AIRE):c.354C>G (p.Val118=) rs528667089 0.00011
NM_000383.4(AIRE):c.372G>A (p.Pro124=) rs775117249 0.00011
NM_000383.4(AIRE):c.705G>A (p.Lys235=) rs145255118 0.00011
NM_000383.4(AIRE):c.825G>C (p.Gln275His) rs1027582142 0.00011
NM_001370466.1(NOD2):c.-8-2243T>C rs765406921 0.00011
NM_001370466.1(NOD2):c.1709C>T (p.Ala570Val) rs377554134 0.00011
NM_001370466.1(NOD2):c.2087C>T (p.Pro696Leu) rs201076024 0.00011
NM_001370466.1(NOD2):c.2382-9T>A rs201759367 0.00011
NM_001370466.1(NOD2):c.2840C>T (p.Ser947Phe) rs200463498 0.00011
NM_001370466.1(NOD2):c.45C>T (p.Val15=) rs766815592 0.00011
NM_001370466.1(NOD2):c.565+15T>C rs765487015 0.00011
NM_006254.4(PRKCD):c.1167C>T (p.Asp389=) rs781931484 0.00011
NM_006254.4(PRKCD):c.1260+7G>A rs374605708 0.00011
NM_006254.4(PRKCD):c.1928G>A (p.Arg643His) rs369041593 0.00011
NM_007315.4(STAT1):c.1059G>A (p.Glu353=) rs371279547 0.00011
NM_007315.4(STAT1):c.274-4C>G rs377209172 0.00011
NM_014009.4(FOXP3):c.1278C>A (p.Asn426Lys) rs369332983 0.00011
NM_014009.4(FOXP3):c.551C>T (p.Ser184Leu) rs140222626 0.00011
NM_032977.4(CASP10):c.1452C>T (p.Asn484=) rs375762220 0.00011
NM_032977.4(CASP10):c.271C>T (p.Leu91=) rs148026756 0.00011
NM_032977.4(CASP10):c.347+10G>T rs377184631 0.00011
NM_032977.4(CASP10):c.922+5G>A rs559244194 0.00011
NM_033629.6(TREX1):c.120C>T (p.His40=) rs758622317 0.00011
NM_000383.4(AIRE):c.1115C>T (p.Ser372Leu) rs202237214 0.00010
NM_000383.4(AIRE):c.1450G>A (p.Val484Met) rs367966318 0.00010
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu) rs193922417 0.00010
NM_000383.4(AIRE):c.927C>G (p.Ile309Met) rs74162062 0.00010
NM_000639.3(FASLG):c.466A>G (p.Arg156Gly) rs80358238 0.00010
NM_001370466.1(NOD2):c.1608C>T (p.Tyr536=) rs111608429 0.00010
NM_001370466.1(NOD2):c.2099C>T (p.Pro700Leu) rs104895489 0.00010
NM_001370466.1(NOD2):c.233C>T (p.Ala78Val) rs202052365 0.00010
NM_001370466.1(NOD2):c.234G>A (p.Ala78=) rs104895419 0.00010
NM_001370466.1(NOD2):c.332G>A (p.Arg111Gln) rs104895456 0.00010
NM_001370466.1(NOD2):c.544C>T (p.Pro182Ser) rs143080077 0.00010
NM_001372051.1(CASP8):c.1182G>A (p.Pro394=) rs190041873 0.00010
NM_006254.4(PRKCD):c.1554+13C>T rs551694897 0.00010
NM_007315.4(STAT1):c.1263+20G>T rs573738354 0.00010
NM_007315.4(STAT1):c.1341C>A (p.Asp447Glu) rs140351189 0.00010
NM_014009.4(FOXP3):c.30G>A (p.Ser10=) rs142994383 0.00010
NM_014009.4(FOXP3):c.624C>T (p.Phe208=) rs148215677 0.00010
NM_032977.4(CASP10):c.1537T>C (p.Phe513Leu) rs143632134 0.00010
NM_033629.6(TREX1):c.312G>C (p.Leu104=) rs56162833 0.00010
NM_033629.6(TREX1):c.843C>T (p.Ala281=) rs200719301 0.00010
NM_000043.6(FAS):c.251C>T (p.Pro84Leu) rs778483787 0.00009
NM_000043.6(FAS):c.38C>T (p.Thr13Met) rs372880667 0.00009
NM_000383.4(AIRE):c.1095+2T>C rs760280615 0.00009
NM_000383.4(AIRE):c.132+18C>T rs535317267 0.00009
NM_000383.4(AIRE):c.426G>A (p.Ala142=) rs748305262 0.00009
NM_000383.4(AIRE):c.485C>T (p.Pro162Leu) rs138949170 0.00009
NM_000383.4(AIRE):c.520C>T (p.Arg174Cys) rs752687905 0.00009
NM_000383.4(AIRE):c.615C>T (p.Ala205=) rs143784684 0.00009
NM_000639.3(FASLG):c.177G>A (p.Pro59=) rs559795993 0.00009
NM_000639.3(FASLG):c.394+14C>T rs371078346 0.00009
NM_001370466.1(NOD2):c.-7T>C rs371044393 0.00009
NM_001370466.1(NOD2):c.1943C>T (p.Ala648Val) rs138958152 0.00009
NM_001370466.1(NOD2):c.1965G>T (p.Leu655Phe) rs149002807 0.00009
NM_001370466.1(NOD2):c.2177G>A (p.Arg726Gln) rs774888496 0.00009
NM_001370466.1(NOD2):c.2979G>A (p.Gly993=) rs374689495 0.00009
NM_001370466.1(NOD2):c.590C>T (p.Ala197Val) rs375336137 0.00009
NM_001372051.1(CASP8):c.1266C>T (p.Ile422=) rs781707597 0.00009
NM_001372051.1(CASP8):c.357T>C (p.Ser119=) rs560858360 0.00009
NM_005214.5(CTLA4):c.468G>A (p.Pro156=) rs200657280 0.00009
NM_006254.4(PRKCD):c.1470C>T (p.Ala490=) rs781875657 0.00009
NM_006254.4(PRKCD):c.1706G>A (p.Arg569His) rs138712106 0.00009
NM_006254.4(PRKCD):c.597A>G (p.Lys199=) rs74558112 0.00009
NM_006254.4(PRKCD):c.787+4C>T rs575167797 0.00009
NM_006254.4(PRKCD):c.949G>A (p.Glu317Lys) rs55929201 0.00009
NM_007315.4(STAT1):c.1582+9A>G rs1309616318 0.00009
NM_033629.6(TREX1):c.504C>G (p.Pro168=) rs747052975 0.00009
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser) rs146524913 0.00009
NM_033629.6(TREX1):c.728C>G (p.Pro243Arg) rs776094274 0.00009
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) rs769885715 0.00009
NM_000043.6(FAS):c.961G>A (p.Asp321Asn) rs137898188 0.00008
NM_000383.4(AIRE):c.1203_1278+28del rs1568929576 0.00008
NM_000383.4(AIRE):c.653-16C>T rs368374287 0.00008
NM_000383.4(AIRE):c.659C>T (p.Ser220Phe) rs753236604 0.00008
NM_000639.3(FASLG):c.153G>A (p.Pro51=) rs147380045 0.00008
NM_000639.3(FASLG):c.204G>A (p.Leu68=) rs951438902 0.00008
NM_001370466.1(NOD2):c.1745T>G (p.Phe582Cys) rs777798807 0.00008
NM_001370466.1(NOD2):c.2290C>T (p.Arg764Trp) rs104895484 0.00008
NM_001370466.1(NOD2):c.2446G>A (p.Glu816Lys) rs104895445 0.00008
NM_001370466.1(NOD2):c.402C>T (p.Phe134=) rs565504727 0.00008
NM_001370466.1(NOD2):c.494C>T (p.Ala165Val) rs149071116 0.00008
NM_006254.4(PRKCD):c.1299G>A (p.Gly433=) rs200890839 0.00008
NM_006254.4(PRKCD):c.1927C>T (p.Arg643Cys) rs778015441 0.00008
NM_007315.4(STAT1):c.1222-14T>G rs201698540 0.00008
NM_014009.4(FOXP3):c.647+19T>G rs371187277 0.00008
NM_014009.4(FOXP3):c.984G>A (p.Met328Ile) rs367860281 0.00008
NM_032977.4(CASP10):c.684+1G>A rs372539994 0.00008
NM_033629.6(TREX1):c.486G>A (p.Leu162=) rs55786737 0.00008
NM_000383.4(AIRE):c.1094C>T (p.Pro365Leu) rs374475349 0.00007
NM_000383.4(AIRE):c.1095+10C>T rs372932833 0.00007
NM_000383.4(AIRE):c.1323G>A (p.Thr441=) rs201945690 0.00007
NM_000383.4(AIRE):c.137C>T (p.Thr46Met) rs758870962 0.00007
NM_000383.4(AIRE):c.564C>G (p.Val188=) rs201650973 0.00007
NM_000383.4(AIRE):c.652+15G>A rs760027964 0.00007
NM_000383.4(AIRE):c.652+7G>A rs373277723 0.00007
NM_001370466.1(NOD2):c.1097G>A (p.Arg366His) rs140918872 0.00007
NM_001370466.1(NOD2):c.1199C>T (p.Pro400Leu) rs766651775 0.00007
NM_001370466.1(NOD2):c.1528C>T (p.Pro510Ser) rs767197520 0.00007
NM_001370466.1(NOD2):c.1875G>A (p.Ser625=) rs141355588 0.00007
NM_001370466.1(NOD2):c.2734A>G (p.Ile912Val) rs201781416 0.00007
NM_001370466.1(NOD2):c.623G>A (p.Arg208His) rs201790577 0.00007
NM_001370466.1(NOD2):c.638A>G (p.Tyr213Cys) rs202190367 0.00007
NM_001370466.1(NOD2):c.839C>T (p.Thr280Met) rs191901394 0.00007
NM_005214.5(CTLA4):c.565A>G (p.Met189Val) rs199912925 0.00007
NM_005214.5(CTLA4):c.94C>T (p.Pro32Ser) rs369567630 0.00007
NM_006254.4(PRKCD):c.1341C>T (p.Leu447=) rs782659087 0.00007
NM_007315.4(STAT1):c.1127+4C>T rs372508550 0.00007
NM_007315.4(STAT1):c.1866C>T (p.Asn622=) rs112108750 0.00007
NM_007315.4(STAT1):c.186A>G (p.Ser62=) rs146158319 0.00007
NM_014009.4(FOXP3):c.1221C>T (p.Thr407=) rs373302430 0.00007
NM_014009.4(FOXP3):c.361C>T (p.His121Tyr) rs782640594 0.00007
NM_014009.4(FOXP3):c.659C>T (p.Ala220Val) rs2232369 0.00007
NM_033629.6(TREX1):c.651G>A (p.Arg217=) rs140199177 0.00007
NM_000383.4(AIRE):c.1103C>T (p.Pro368Leu) rs552129156 0.00006
NM_000383.4(AIRE):c.1168A>G (p.Thr390Ala) rs771790456 0.00006
NM_000383.4(AIRE):c.1169C>T (p.Thr390Met) rs201491251 0.00006
NM_000383.4(AIRE):c.1326C>T (p.Asp442=) rs750033525 0.00006
NM_000383.4(AIRE):c.1527C>T (p.Pro509=) rs746856788 0.00006
NM_000383.4(AIRE):c.608G>A (p.Arg203Gln) rs200359179 0.00006
NM_000383.4(AIRE):c.718G>A (p.Gly240Ser) rs142286875 0.00006
NM_000383.4(AIRE):c.756G>A (p.Pro252=) rs765738882 0.00006
NM_000383.4(AIRE):c.798+1G>A rs138489664 0.00006
NM_000383.4(AIRE):c.819G>C (p.Leu273=) rs756188438 0.00006
NM_000639.3(FASLG):c.173C>T (p.Pro58Leu) rs558758285 0.00006
NM_000639.3(FASLG):c.749A>G (p.Asn250Ser) rs376317481 0.00006
NM_001370466.1(NOD2):c.1203C>T (p.Ala401=) rs547826765 0.00006
NM_001370466.1(NOD2):c.1212G>T (p.Ser404=) rs145834617 0.00006
NM_001370466.1(NOD2):c.2497G>A (p.Ala833Thr) rs754270929 0.00006
NM_001370466.1(NOD2):c.2690G>A (p.Gly897Asp) rs104895453 0.00006
NM_001370466.1(NOD2):c.2693A>G (p.Asp898Gly) rs545734771 0.00006
NM_001370466.1(NOD2):c.2717+2T>A rs1309535620 0.00006
NM_001370466.1(NOD2):c.2886-9C>A rs554292255 0.00006
NM_001370466.1(NOD2):c.388T>C (p.Trp130Arg) rs104895420 0.00006
NM_001370466.1(NOD2):c.540A>T (p.Pro180=) rs377752699 0.00006
NM_001370466.1(NOD2):c.778C>T (p.His260Tyr) rs560242309 0.00006
NM_001372051.1(CASP8):c.159G>A (p.Met53Ile) rs200261147 0.00006
NM_001372051.1(CASP8):c.306-1928C>T rs534884641 0.00006
NM_001372051.1(CASP8):c.852C>T (p.His284=) rs138030956 0.00006
NM_005214.5(CTLA4):c.257C>T (p.Ala86Val) rs376038796 0.00006
NM_005214.5(CTLA4):c.4G>T (p.Ala2Ser) rs767352102 0.00006
NM_006254.4(PRKCD):c.1212C>T (p.Ala404=) rs200149825 0.00006
NM_006254.4(PRKCD):c.1956C>T (p.Ile652=) rs147565728 0.00006
NM_006254.4(PRKCD):c.315+10G>A rs782548097 0.00006
NM_006254.4(PRKCD):c.636G>A (p.Ala212=) rs200410934 0.00006
NM_006254.4(PRKCD):c.945T>C (p.Gly315=) rs781846856 0.00006
NM_006254.4(PRKCD):c.961G>A (p.Gly321Arg) rs372047510 0.00006
NM_007315.4(STAT1):c.1090T>C (p.Phe364Leu) rs759722579 0.00006
NM_007315.4(STAT1):c.1437G>A (p.Ala479=) rs377513599 0.00006
NM_007315.4(STAT1):c.542-3T>C rs377490932 0.00006
NM_014009.4(FOXP3):c.1147-13C>T rs782632308 0.00006
NM_014009.4(FOXP3):c.1241G>A (p.Arg414His) rs782786757 0.00006
NM_014009.4(FOXP3):c.825C>T (p.Ser275=) rs1405637345 0.00006
NM_032977.4(CASP10):c.1416-4G>C rs371589204 0.00006
NM_032977.4(CASP10):c.620C>T (p.Ser207Leu) rs770997816 0.00006
NM_032977.4(CASP10):c.715A>T (p.Ser239Cys) rs41473647 0.00006
NM_033629.6(TREX1):c.168A>T (p.Thr56=) rs770441459 0.00006
NM_033629.6(TREX1):c.219G>A (p.Pro73=) rs778992418 0.00006
NM_033629.6(TREX1):c.337C>T (p.Arg113Trp) rs759594113 0.00006
NM_033629.6(TREX1):c.346C>G (p.Pro116Ala) rs761651331 0.00006
NM_000043.6(FAS):c.652-7T>C rs370323285 0.00005
NM_000043.6(FAS):c.667A>C (p.Asn223His) rs143318339 0.00005
NM_000383.4(AIRE):c.1048C>T (p.Pro350Ser) rs554591629 0.00005
NM_000383.4(AIRE):c.1107G>T (p.Gly369=) rs767432975 0.00005
NM_000383.4(AIRE):c.1367G>A (p.Arg456His) rs554954634 0.00005
NM_000383.4(AIRE):c.1422C>T (p.Ser474=) rs760924817 0.00005
NM_000383.4(AIRE):c.156G>A (p.Lys52=) rs144396624 0.00005
NM_000383.4(AIRE):c.464-14G>T rs569160989 0.00005
NM_000639.3(FASLG):c.278C>T (p.Ala93Val) rs758796005 0.00005
NM_001370466.1(NOD2):c.-8-2238G>C rs976567823 0.00005
NM_001370466.1(NOD2):c.1037G>A (p.Arg346His) rs764176270 0.00005
NM_001370466.1(NOD2):c.1085C>T (p.Thr362Met) rs528926956 0.00005
NM_001370466.1(NOD2):c.1233C>A (p.Ile411=) rs773440974 0.00005
NM_001370466.1(NOD2):c.1308C>T (p.Pro436=) rs200656015 0.00005
NM_001370466.1(NOD2):c.1450A>G (p.Thr484Ala) rs759153904 0.00005
NM_001370466.1(NOD2):c.1546C>T (p.Arg516Cys) rs545580252 0.00005
NM_001370466.1(NOD2):c.1679G>A (p.Arg560His) rs373185098 0.00005
NM_001370466.1(NOD2):c.2160C>T (p.Tyr720=) rs751417475 0.00005
NM_001370466.1(NOD2):c.2287C>T (p.Arg763Trp) rs62029861 0.00005
NM_001370466.1(NOD2):c.2776A>G (p.Lys926Glu) rs375705174 0.00005
NM_001370466.1(NOD2):c.377T>G (p.Leu126Arg) rs867184583 0.00005
NM_001370466.1(NOD2):c.403G>A (p.Val135Ile) rs139571975 0.00005
NM_001370466.1(NOD2):c.789C>T (p.Asp263=) rs749180535 0.00005
NM_001370466.1(NOD2):c.78C>T (p.Phe26=) rs769855133 0.00005
NM_001370466.1(NOD2):c.869C>T (p.Ala290Val) rs199975570 0.00005
NM_001372051.1(CASP8):c.1086G>C (p.Gly362=) rs377204617 0.00005
NM_001372051.1(CASP8):c.1169C>T (p.Thr390Met) rs373673288 0.00005
NM_001372051.1(CASP8):c.1308C>T (p.Gly436=) rs777463099 0.00005
NM_001372051.1(CASP8):c.363G>A (p.Lys121=) rs773845990 0.00005
NM_001372051.1(CASP8):c.75G>A (p.Leu25=) rs748943405 0.00005
NM_006254.4(PRKCD):c.1293C>T (p.Asn431=) rs377107086 0.00005
NM_006254.4(PRKCD):c.1692G>A (p.Thr564=) rs564128768 0.00005
NM_006254.4(PRKCD):c.267G>A (p.Ser89=) rs782214291 0.00005
NM_007315.4(STAT1):c.1582+7G>A rs762378892 0.00005
NM_007315.4(STAT1):c.1614G>A (p.Pro538=) rs373903728 0.00005
NM_007315.4(STAT1):c.172C>T (p.His58Tyr) rs751586208 0.00005
NM_014009.4(FOXP3):c.1149C>T (p.Asn383=) rs782267196 0.00005
NM_014009.4(FOXP3):c.1240C>T (p.Arg414Cys) rs781854593 0.00005
NM_014009.4(FOXP3):c.816+6C>T rs781919619 0.00005
NM_014009.4(FOXP3):c.873C>T (p.Val291=) rs782371089 0.00005
NM_032977.4(CASP10):c.1415+1G>A rs757635087 0.00005
NM_032977.4(CASP10):c.923-8T>C rs763446704 0.00005
NM_033629.6(TREX1):c.1A>G (p.Met1Val) rs761165865 0.00005
NM_033629.6(TREX1):c.24G>A (p.Pro8=) rs147463121 0.00005
NM_033629.6(TREX1):c.338G>A (p.Arg113Gln) rs201496629 0.00005
NM_033629.6(TREX1):c.387C>T (p.Tyr129=) rs202025490 0.00005
NM_033629.6(TREX1):c.513C>T (p.His171=) rs531660451 0.00005
NM_000043.6(FAS):c.444-15T>C rs372996634 0.00004
NM_000043.6(FAS):c.505+17G>A rs767973417 0.00004
NM_000383.4(AIRE):c.1081C>T (p.Pro361Ser) rs1267538837 0.00004
NM_000383.4(AIRE):c.1279-8T>G rs374358283 0.00004
NM_000383.4(AIRE):c.1348G>A (p.Ala450Thr) rs758446796 0.00004
NM_000383.4(AIRE):c.1398C>T (p.Pro466=) rs1402673356 0.00004
NM_000383.4(AIRE):c.1403C>T (p.Thr468Met) rs775349581 0.00004
NM_000383.4(AIRE):c.1458G>A (p.Gly486=) rs774298250 0.00004
NM_000383.4(AIRE):c.1503+10G>A rs1319625944 0.00004
NM_000383.4(AIRE):c.166C>T (p.Pro56Ser) rs753460287 0.00004
NM_000383.4(AIRE):c.347C>T (p.Pro116Leu) rs151049459 0.00004
NM_000383.4(AIRE):c.351C>T (p.Ala117=) rs201929488 0.00004
NM_000383.4(AIRE):c.352G>A (p.Val118Ile) rs370599883 0.00004
NM_000383.4(AIRE):c.488C>A (p.Pro163His) rs771592755 0.00004
NM_000383.4(AIRE):c.531C>T (p.Leu177=) rs538568691 0.00004
NM_000383.4(AIRE):c.652+1G>T rs199612115 0.00004
NM_000383.4(AIRE):c.655G>A (p.Gly219Ser) rs139620961 0.00004
NM_000383.4(AIRE):c.73G>C (p.Ala25Pro) rs761025044 0.00004
NM_000383.4(AIRE):c.740G>A (p.Arg247His) rs763487370 0.00004
NM_000383.4(AIRE):c.947G>A (p.Arg316Gln) rs202027254 0.00004
NM_000639.3(FASLG):c.109C>G (p.Pro37Ala) rs145731782 0.00004
NM_000639.3(FASLG):c.176C>T (p.Pro59Leu) rs375737004 0.00004
NM_000639.3(FASLG):c.394+3G>A rs376383896 0.00004
NM_001370466.1(NOD2):c.1088A>T (p.Asp363Val) rs769622495 0.00004
NM_001370466.1(NOD2):c.1161C>T (p.Asn387=) rs937713503 0.00004
NM_001370466.1(NOD2):c.1178G>A (p.Arg393His) rs199475913 0.00004
NM_001370466.1(NOD2):c.1196G>A (p.Arg399His) rs562225614 0.00004
NM_001370466.1(NOD2):c.1198C>T (p.Pro400Ser) rs760982375 0.00004
NM_001370466.1(NOD2):c.1234C>T (p.Arg412Cys) rs375201229 0.00004
NM_001370466.1(NOD2):c.1322G>A (p.Arg441His) rs775728252 0.00004
NM_001370466.1(NOD2):c.132C>T (p.Tyr44=) rs754402504 0.00004
NM_001370466.1(NOD2):c.1395G>A (p.Val465=) rs781421828 0.00004
NM_001370466.1(NOD2):c.1540C>T (p.Arg514Trp) rs576658764 0.00004
NM_001370466.1(NOD2):c.1706C>T (p.Thr569Met) rs142077546 0.00004
NM_001370466.1(NOD2):c.178C>T (p.Arg60Cys) rs374128251 0.00004
NM_001370466.1(NOD2):c.1819A>G (p.Arg607Gly) rs970949991 0.00004
NM_001370466.1(NOD2):c.1894G>A (p.Val632Met) rs570167996 0.00004
NM_001370466.1(NOD2):c.1917C>T (p.Ala639=) rs374171106 0.00004
NM_001370466.1(NOD2):c.1918G>A (p.Glu640Lys) rs774425599 0.00004
NM_001370466.1(NOD2):c.1950C>G (p.Phe650Leu) rs374116563 0.00004
NM_001370466.1(NOD2):c.1A>G (p.Met1Val) rs372321755 0.00004
NM_001370466.1(NOD2):c.2024G>A (p.Arg675Gln) rs139104022 0.00004
NM_001370466.1(NOD2):c.2088G>A (p.Pro696=) rs754856212 0.00004
NM_001370466.1(NOD2):c.2116G>A (p.Val706Met) rs746055479 0.00004
NM_001370466.1(NOD2):c.2185C>T (p.Arg729Trp) rs376201089 0.00004
NM_001370466.1(NOD2):c.2198G>A (p.Arg733His) rs763955590 0.00004
NM_001370466.1(NOD2):c.2284C>T (p.Leu762Phe) rs773758818 0.00004
NM_001370466.1(NOD2):c.2407C>T (p.Arg803Ter) rs760623178 0.00004
NM_001370466.1(NOD2):c.2408G>A (p.Arg803Gln) rs770915641 0.00004
NM_001370466.1(NOD2):c.2465+6T>A rs201329309 0.00004
NM_001370466.1(NOD2):c.2558A>G (p.Asn853Ser) rs374506720 0.00004
NM_001370466.1(NOD2):c.2565C>T (p.Tyr855=) rs766014518 0.00004
NM_001370466.1(NOD2):c.2631G>A (p.Leu877=) rs142559533 0.00004
NM_001370466.1(NOD2):c.2736T>C (p.Ile912=) rs104895454 0.00004
NM_001370466.1(NOD2):c.2844C>T (p.Leu948=) rs104895463 0.00004
NM_001370466.1(NOD2):c.2852G>A (p.Gly951Glu) rs104895457 0.00004
NM_001370466.1(NOD2):c.2917G>A (p.Ala973Thr) rs1282634444 0.00004
NM_001370466.1(NOD2):c.417A>T (p.Glu139Asp) rs749605438 0.00004
NM_001370466.1(NOD2):c.509C>A (p.Ala170Asp) rs373838219 0.00004
NM_001370466.1(NOD2):c.605C>T (p.Thr202Met) rs529640892 0.00004
NM_001370466.1(NOD2):c.606G>A (p.Thr202=) rs771003092 0.00004
NM_001370466.1(NOD2):c.631A>G (p.Ser211Gly) rs1001861018 0.00004
NM_001370466.1(NOD2):c.653C>T (p.Thr218Met) rs148516118 0.00004
NM_001370466.1(NOD2):c.769A>G (p.Thr257Ala) rs369740939 0.00004
NM_001370466.1(NOD2):c.821C>T (p.Ala274Val) rs104895426 0.00004
NM_001370466.1(NOD2):c.956G>A (p.Arg319Gln) rs759520552 0.00004
NM_001372051.1(CASP8):c.431T>C (p.Ile144Thr) rs142688117 0.00004
NM_001372051.1(CASP8):c.667G>A (p.Asp223Asn) rs772942337 0.00004
NM_001372051.1(CASP8):c.756C>T (p.Pro252=) rs751874097 0.00004
NM_001372051.1(CASP8):c.972T>C (p.Tyr324=) rs368087314 0.00004
NM_005214.5(CTLA4):c.312G>A (p.Thr104=) rs770065318 0.00004
NM_005214.5(CTLA4):c.411G>A (p.Pro137=) rs188862082 0.00004
NM_006254.4(PRKCD):c.115+14C>G rs781949983 0.00004
NM_006254.4(PRKCD):c.1671C>T (p.Phe557=) rs147601598 0.00004
NM_006254.4(PRKCD):c.1743+14G>A rs377684585 0.00004
NM_006254.4(PRKCD):c.174G>A (p.Thr58=) rs55719519 0.00004
NM_006254.4(PRKCD):c.217C>T (p.Leu73=) rs782144950 0.00004
NM_006254.4(PRKCD):c.240A>G (p.Pro80=) rs781855123 0.00004
NM_006254.4(PRKCD):c.373G>A (p.Val125Met) rs370069134 0.00004
NM_006254.4(PRKCD):c.44G>C (p.Gly15Ala) rs369358922 0.00004
NM_006254.4(PRKCD):c.579C>T (p.Asn193=) rs781809625 0.00004
NM_006254.4(PRKCD):c.693C>T (p.His231=) rs982499152 0.00004
NM_006254.4(PRKCD):c.960C>T (p.Thr320=) rs143202454 0.00004
NM_007315.4(STAT1):c.1222-8T>C rs771679538 0.00004
NM_007315.4(STAT1):c.1569A>G (p.Gly523=) rs1211461298 0.00004
NM_007315.4(STAT1):c.1727+13G>A rs377146580 0.00004
NM_007315.4(STAT1):c.1856G>A (p.Arg619Gln) rs369060692 0.00004
NM_007315.4(STAT1):c.1899C>T (p.Pro633=) rs141415212 0.00004
NM_007315.4(STAT1):c.2190G>A (p.Glu730=) rs748388742 0.00004
NM_007315.4(STAT1):c.429C>G (p.Asp143Glu) rs780853224 0.00004
NM_007315.4(STAT1):c.864C>T (p.Thr288=) rs61756198 0.00004
NM_007315.4(STAT1):c.992G>A (p.Arg331Lys) rs533671897 0.00004
NM_014009.4(FOXP3):c.1295G>A (p.Ter432=) rs782112916 0.00004
NM_014009.4(FOXP3):c.152G>A (p.Arg51Gln) rs1170772176 0.00004
NM_014009.4(FOXP3):c.253C>T (p.Arg85Trp) rs376715533 0.00004
NM_014009.4(FOXP3):c.323C>T (p.Thr108Met) rs782572328 0.00004
NM_014009.4(FOXP3):c.331G>A (p.Ala111Thr) rs1424687079 0.00004
NM_014009.4(FOXP3):c.670C>G (p.Leu224Val) rs373242883 0.00004
NM_014009.4(FOXP3):c.895C>T (p.Arg299Trp) rs200928046 0.00004
NM_014009.4(FOXP3):c.926G>A (p.Arg309Gln) rs782731811 0.00004
NM_032977.4(CASP10):c.1093del (p.Tyr365fs) rs781003519 0.00004
NM_032977.4(CASP10):c.1466G>A (p.Arg489Gln) rs535121774 0.00004
NM_032977.4(CASP10):c.20A>G (p.His7Arg) rs200935960 0.00004
NM_032977.4(CASP10):c.310C>T (p.Arg104Ter) rs779212325 0.00004
NM_032977.4(CASP10):c.507C>G (p.Cys169Trp) rs774005416 0.00004
NM_032977.4(CASP10):c.553A>G (p.Ile185Val) rs369231920 0.00004
NM_032977.4(CASP10):c.577+3A>G rs780947440 0.00004
NM_032977.4(CASP10):c.729A>G (p.Arg243=) rs374515060 0.00004
NM_032977.4(CASP10):c.750C>T (p.Ser250=) rs757706964 0.00004
NM_033629.6(TREX1):c.197A>G (p.Lys66Arg) rs188508043 0.00004
NM_033629.6(TREX1):c.247G>A (p.Glu83Lys) rs745434375 0.00004
NM_033629.6(TREX1):c.250A>G (p.Ile84Val) rs775075513 0.00004
NM_033629.6(TREX1):c.296G>A (p.Cys99Tyr) rs778869156 0.00004
NM_033629.6(TREX1):c.403C>T (p.Gln135Ter) rs746384382 0.00004
NM_033629.6(TREX1):c.416del (p.Ala139fs) rs763229085 0.00004
NM_033629.6(TREX1):c.471T>G (p.Thr157=) rs751022472 0.00004
NM_033629.6(TREX1):c.473C>T (p.Ala158Val) rs762011967 0.00004
NM_033629.6(TREX1):c.581C>T (p.Ser194Leu) rs531702332 0.00004
NM_033629.6(TREX1):c.8C>T (p.Ser3Leu) rs140029866 0.00004
NM_000043.6(FAS):c.196+3A>C rs370162732 0.00003
NM_000043.6(FAS):c.216C>T (p.Asp72=) rs766429180 0.00003
NM_000043.6(FAS):c.247G>A (p.Val83Met) rs199790261 0.00003
NM_000043.6(FAS):c.488C>T (p.Thr163Ile) rs563551720 0.00003
NM_000043.6(FAS):c.630T>C (p.His210=) rs751973753 0.00003
NM_000043.6(FAS):c.651+8T>C rs771146577 0.00003
NM_000043.6(FAS):c.867A>C (p.Glu289Asp) rs377337130 0.00003
NM_000043.6(FAS):c.945C>T (p.Leu315=) rs1188345187 0.00003
NM_000043.6(FAS):c.976A>C (p.Asn326His) rs770595930 0.00003
NM_000043.6(FAS):c.97A>G (p.Lys33Glu) rs55766344 0.00003
NM_000383.4(AIRE):c.1031C>T (p.Thr344Ile) rs929430876 0.00003
NM_000383.4(AIRE):c.132+16G>A rs1272044102 0.00003
NM_000383.4(AIRE):c.1327G>A (p.Val443Met) rs557522986 0.00003
NM_000383.4(AIRE):c.1347C>T (p.Cys449=) rs367619299 0.00003
NM_000383.4(AIRE):c.1400+7G>C rs781592443 0.00003
NM_000383.4(AIRE):c.1481G>A (p.Arg494His) rs528762050 0.00003
NM_000383.4(AIRE):c.1563C>T (p.Ser521=) rs746873146 0.00003
NM_000383.4(AIRE):c.1620G>A (p.Ala540=) rs372219460 0.00003
NM_000383.4(AIRE):c.30T>C (p.Leu10=) rs1024577400 0.00003
NM_000383.4(AIRE):c.464-6A>G rs773945988 0.00003
NM_000383.4(AIRE):c.57G>A (p.Ala19=) rs761739665 0.00003
NM_000383.4(AIRE):c.799-18C>T rs752494949 0.00003
NM_000383.4(AIRE):c.799-4G>A rs1359244532 0.00003
NM_000383.4(AIRE):c.872T>C (p.Leu291Pro) rs767272852 0.00003
NM_000383.4(AIRE):c.979C>A (p.Leu327Ile) rs1029648118 0.00003
NM_000639.3(FASLG):c.152C>T (p.Pro51Leu) rs61761322 0.00003
NM_000639.3(FASLG):c.179C>T (p.Pro60Leu) rs780144691 0.00003
NM_000639.3(FASLG):c.270T>C (p.Val90=) rs765440709 0.00003
NM_000639.3(FASLG):c.323A>G (p.Gln108Arg) rs369342226 0.00003
NM_000639.3(FASLG):c.49A>C (p.Ser17Arg) rs777720730 0.00003
NM_000639.3(FASLG):c.532A>G (p.Lys178Glu) rs772212573 0.00003
NM_000639.3(FASLG):c.624C>T (p.Ser208=) rs761180254 0.00003
NM_001370466.1(NOD2):c.1027C>T (p.His343Tyr) rs199858111 0.00003
NM_001370466.1(NOD2):c.1110G>A (p.Pro370=) rs766883774 0.00003
NM_001370466.1(NOD2):c.1215G>A (p.Ala405=) rs779751017 0.00003
NM_001370466.1(NOD2):c.1239C>T (p.Thr413=) rs143395754 0.00003
NM_001370466.1(NOD2):c.134A>G (p.Glu45Gly) rs138881230 0.00003
NM_001370466.1(NOD2):c.1378G>A (p.Val460Ile) rs908626604 0.00003
NM_001370466.1(NOD2):c.1520G>T (p.Gly507Val) rs139663808 0.00003
NM_001370466.1(NOD2):c.1678C>T (p.Arg560Cys) rs104895479 0.00003
NM_001370466.1(NOD2):c.1865T>C (p.Ile622Thr) rs367637762 0.00003
NM_001370466.1(NOD2):c.1956A>G (p.Ala652=) rs756746121 0.00003
NM_001370466.1(NOD2):c.1994A>G (p.Glu665Gly) rs766687492 0.00003
NM_001370466.1(NOD2):c.2027G>A (p.Arg676His) rs750096604 0.00003
NM_001370466.1(NOD2):c.2073C>T (p.His691=) rs368952727 0.00003
NM_001370466.1(NOD2):c.2186G>A (p.Arg729Gln) rs375713299 0.00003
NM_001370466.1(NOD2):c.230T>C (p.Ile77Thr) rs912789864 0.00003
NM_001370466.1(NOD2):c.2381+15G>A rs931489429 0.00003
NM_001370466.1(NOD2):c.2388C>T (p.Arg796=) rs757770726 0.00003
NM_001370466.1(NOD2):c.2393A>G (p.Asn798Ser) rs747787438 0.00003
NM_001370466.1(NOD2):c.2426T>C (p.Ile809Thr) rs763192145 0.00003
NM_001370466.1(NOD2):c.2465+1G>A rs373550987 0.00003
NM_001370466.1(NOD2):c.2465C>T (p.Ala822Val) rs104895486 0.00003
NM_001370466.1(NOD2):c.247G>A (p.Ala83Thr) rs571102620 0.00003
NM_001370466.1(NOD2):c.256G>A (p.Asp86Asn) rs104895468 0.00003
NM_001370466.1(NOD2):c.2572G>C (p.Ala858Pro) rs759456303 0.00003
NM_001370466.1(NOD2):c.2658C>T (p.Asp886=) rs104895451 0.00003
NM_001370466.1(NOD2):c.300G>A (p.Ser100=) rs535978538 0.00003
NM_001370466.1(NOD2):c.313C>T (p.Arg105Ter) rs757487598 0.00003
NM_001370466.1(NOD2):c.616C>T (p.Gln206Ter) rs781333877 0.00003
NM_001370466.1(NOD2):c.617A>C (p.Gln206Pro) rs369098290 0.00003
NM_001370466.1(NOD2):c.726G>A (p.Pro242=) rs369766454 0.00003
NM_001370466.1(NOD2):c.840G>A (p.Thr280=) rs376601025 0.00003
NM_001370466.1(NOD2):c.845T>C (p.Leu282Pro) rs767225117 0.00003
NM_001370466.1(NOD2):c.907C>T (p.Pro303Ser) rs773132030 0.00003
NM_001370466.1(NOD2):c.947T>C (p.Leu316Pro) rs369732140 0.00003
NM_001372051.1(CASP8):c.1048G>A (p.Gly350Arg) rs202185417 0.00003
NM_001372051.1(CASP8):c.1128G>C (p.Glu376Asp) rs549753655 0.00003
NM_001372051.1(CASP8):c.660+14T>A rs1422636526 0.00003
NM_001372051.1(CASP8):c.919A>G (p.Met307Val) rs148960588 0.00003
NM_005214.5(CTLA4):c.22C>T (p.Arg8Trp) rs201778935 0.00003
NM_005214.5(CTLA4):c.268A>G (p.Met90Val) rs370443546 0.00003
NM_005214.5(CTLA4):c.435C>T (p.Asn145=) rs777300741 0.00003
NM_005214.5(CTLA4):c.615C>G (p.Pro205=) rs74808460 0.00003
NM_006254.4(PRKCD):c.1002C>T (p.Tyr334=) rs546426559 0.00003
NM_006254.4(PRKCD):c.1156C>T (p.Leu386=) rs374287889 0.00003
NM_006254.4(PRKCD):c.1342T>A (p.Tyr448Asn) rs141979341 0.00003
NM_006254.4(PRKCD):c.1554+7C>T rs370247870 0.00003
NM_006254.4(PRKCD):c.1555-6C>T rs370593377 0.00003
NM_006254.4(PRKCD):c.1617C>T (p.Tyr539=) rs375360762 0.00003
NM_006254.4(PRKCD):c.177C>T (p.Phe59=) rs369306770 0.00003
NM_006254.4(PRKCD):c.405C>T (p.Asp135=) rs200462015 0.00003
NM_006254.4(PRKCD):c.539+9C>T rs77075429 0.00003
NM_006254.4(PRKCD):c.571+15A>C rs781967950 0.00003
NM_006254.4(PRKCD):c.633C>T (p.Thr211=) rs372745352 0.00003
NM_006254.4(PRKCD):c.63C>T (p.Asp21=) rs369037399 0.00003
NM_006254.4(PRKCD):c.657+11G>C rs781971358 0.00003
NM_006254.4(PRKCD):c.657+3G>A rs199785209 0.00003
NM_006254.4(PRKCD):c.715A>G (p.Met239Val) rs369236318 0.00003
NM_006254.4(PRKCD):c.799A>C (p.Asn267His) rs1371733624 0.00003
NM_006254.4(PRKCD):c.915C>T (p.Ala305=) rs201862364 0.00003
NM_007315.4(STAT1):c.1347+10T>C rs376263835 0.00003
NM_007315.4(STAT1):c.1362C>T (p.Pro454=) rs753907638 0.00003
NM_007315.4(STAT1):c.1431G>A (p.Leu477=) rs1384090178 0.00003
NM_007315.4(STAT1):c.1632+5G>A rs761686482 0.00003
NM_007315.4(STAT1):c.1713T>G (p.Pro571=) rs772114461 0.00003
NM_007315.4(STAT1):c.1839A>G (p.Thr613=) rs779585092 0.00003
NM_007315.4(STAT1):c.201A>G (p.Gln67=) rs148148052 0.00003
NM_007315.4(STAT1):c.2059+5G>A rs757528949 0.00003
NM_007315.4(STAT1):c.2087C>A (p.Pro696His) rs138723664 0.00003
NM_007315.4(STAT1):c.541+6G>C rs775498408 0.00003
NM_007315.4(STAT1):c.785+14A>G rs901076750 0.00003
NM_007315.4(STAT1):c.801G>A (p.Ala267=) rs146141778 0.00003
NM_007315.4(STAT1):c.898G>C (p.Val300Leu) rs143131630 0.00003
NM_014009.4(FOXP3):c.1051C>T (p.Leu351=) rs782127412 0.00003
NM_014009.4(FOXP3):c.1106G>A (p.Arg369His) rs782443295 0.00003
NM_014009.4(FOXP3):c.246C>T (p.Ser82=) rs368483472 0.00003
NM_014009.4(FOXP3):c.495G>A (p.Pro165=) rs781920028 0.00003
NM_014009.4(FOXP3):c.634G>C (p.Glu212Gln) rs140794570 0.00003
NM_014009.4(FOXP3):c.735+14G>A rs782539969 0.00003
NM_014009.4(FOXP3):c.773C>T (p.Ala258Val) rs369698589 0.00003
NM_032977.4(CASP10):c.1023C>T (p.Cys341=) rs114098515 0.00003
NM_032977.4(CASP10):c.1053C>T (p.Phe351=) rs761697792 0.00003
NM_032977.4(CASP10):c.1350G>T (p.Arg450=) rs370670949 0.00003
NM_032977.4(CASP10):c.163T>C (p.Ser55Pro) rs773417904 0.00003
NM_032977.4(CASP10):c.314T>C (p.Leu105Pro) rs200530667 0.00003
NM_032977.4(CASP10):c.440T>C (p.Met147Thr) rs121909776 0.00003
NM_032977.4(CASP10):c.555A>G (p.Ile185Met) rs758869726 0.00003
NM_032977.4(CASP10):c.879C>A (p.Ser293Arg) rs369897442 0.00003
NM_032977.4(CASP10):c.89A>T (p.Asn30Ile) rs201782416 0.00003
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00003
NM_033629.6(TREX1):c.500del (p.Ser167fs) rs76642637 0.00003
NM_033629.6(TREX1):c.649C>T (p.Arg217Trp) rs201068640 0.00003
NM_033629.6(TREX1):c.690G>C (p.Arg230Ser) rs55691060 0.00003
NM_033629.6(TREX1):c.719G>A (p.Arg240Lys) rs745707260 0.00003
NM_033629.6(TREX1):c.73C>A (p.Pro25Thr) rs748145509 0.00003
NM_000043.6(FAS):c.347A>G (p.Glu116Gly) rs749714005 0.00002
NM_000043.6(FAS):c.519C>T (p.Asn173=) rs1382455258 0.00002
NM_000043.6(FAS):c.57G>A (p.Ser19=) rs757754872 0.00002
NM_000043.6(FAS):c.628C>T (p.His210Tyr) rs1428151683 0.00002
NM_000043.6(FAS):c.879A>G (p.Thr293=) rs1413117342 0.00002
NM_000043.6(FAS):c.943C>T (p.Leu315Phe) rs1475820915 0.00002
NM_000043.6(FAS):c.948G>A (p.Lys316=) rs114502430 0.00002
NM_000383.4(AIRE):c.1014C>G (p.Ser338=) rs746054293 0.00002
NM_000383.4(AIRE):c.108C>A (p.Asp36Glu) rs758891043 0.00002
NM_000383.4(AIRE):c.1191G>T (p.Leu397=) rs572680101 0.00002
NM_000383.4(AIRE):c.1193C>T (p.Pro398Leu) rs754391375 0.00002
NM_000383.4(AIRE):c.1302C>T (p.Cys434=) rs370969296 0.00002
NM_000383.4(AIRE):c.1329G>A (p.Val443=) rs370017667 0.00002
NM_000383.4(AIRE):c.1333C>T (p.Arg445Trp) rs921069738 0.00002
NM_000383.4(AIRE):c.1334G>A (p.Arg445Gln) rs753878067 0.00002
NM_000383.4(AIRE):c.1370G>A (p.Cys457Tyr) rs373383785 0.00002
NM_000383.4(AIRE):c.1401-7G>A rs888720163 0.00002
NM_000383.4(AIRE):c.1434C>T (p.Asp478=) rs575870442 0.00002
NM_000383.4(AIRE):c.1454A>T (p.Glu485Val) rs779510704 0.00002
NM_000383.4(AIRE):c.1503+7G>T rs1161056630 0.00002
NM_000383.4(AIRE):c.1516A>G (p.Ser506Gly) rs201602355 0.00002
NM_000383.4(AIRE):c.1566+11C>A rs200735043 0.00002
NM_000383.4(AIRE):c.1612C>T (p.Arg538Cys) rs1416029492 0.00002
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889 0.00002
NM_000383.4(AIRE):c.1623C>G (p.Ala541=) rs1332443962 0.00002
NM_000383.4(AIRE):c.18G>C (p.Ala6=) rs1228505896 0.00002
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg) rs179363880 0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532 0.00002
NM_000383.4(AIRE):c.276G>A (p.Arg92=) rs765892829 0.00002
NM_000383.4(AIRE):c.423C>T (p.Ala141=) rs572002344 0.00002
NM_000383.4(AIRE):c.453C>T (p.Thr151=) rs554372593 0.00002
NM_000383.4(AIRE):c.498G>A (p.Pro166=) rs372169498 0.00002
NM_000383.4(AIRE):c.540G>A (p.Gly180=) rs777290325 0.00002
NM_000383.4(AIRE):c.607C>T (p.Arg203Ter) rs755490967 0.00002
NM_000383.4(AIRE):c.653-15G>A rs371094356 0.00002
NM_000383.4(AIRE):c.753C>G (p.Gly251=) rs772650680 0.00002
NM_000383.4(AIRE):c.790G>A (p.Ala264Thr) rs746154390 0.00002
NM_000383.4(AIRE):c.880-20G>C rs749193829 0.00002
NM_000639.3(FASLG):c.137C>T (p.Pro46Leu) rs779382158 0.00002
NM_000639.3(FASLG):c.144A>G (p.Pro48=) rs55664927 0.00002
NM_000639.3(FASLG):c.344G>A (p.Arg115Gln) rs1023476500 0.00002
NM_000639.3(FASLG):c.497A>G (p.Tyr166Cys) rs760432021 0.00002
NM_001370466.1(NOD2):c.-8-2171G>A rs571559366 0.00002
NM_001370466.1(NOD2):c.1003del (p.Asp335fs) rs766265864 0.00002
NM_001370466.1(NOD2):c.1030C>G (p.Pro344Ala) rs775443143 0.00002
NM_001370466.1(NOD2):c.1087G>A (p.Asp363Asn) rs147283871 0.00002
NM_001370466.1(NOD2):c.1124C>T (p.Ser375Phe) rs753241960 0.00002
NM_001370466.1(NOD2):c.119C>G (p.Ser40Cys) rs146149433 0.00002
NM_001370466.1(NOD2):c.1321C>T (p.Arg441Cys) rs769988393 0.00002
NM_001370466.1(NOD2):c.133G>A (p.Glu45Lys) rs760069458 0.00002
NM_001370466.1(NOD2):c.1340A>G (p.Gln447Arg) rs367819045 0.00002
NM_001370466.1(NOD2):c.1569G>C (p.Leu523=) rs372877004 0.00002
NM_001370466.1(NOD2):c.1754C>T (p.Ala585Val) rs104895439 0.00002
NM_001370466.1(NOD2):c.1876G>C (p.Glu626Gln) rs757895989 0.00002
NM_001370466.1(NOD2):c.189C>T (p.Asp63=) rs771336423 0.00002
NM_001370466.1(NOD2):c.1923del (p.His642fs) rs758485603 0.00002
NM_001370466.1(NOD2):c.2056C>T (p.Arg686Cys) rs104895440 0.00002
NM_001370466.1(NOD2):c.2130C>T (p.Pro710=) rs769210593 0.00002
NM_001370466.1(NOD2):c.2133G>C (p.Gly711=) rs143963486 0.00002
NM_001370466.1(NOD2):c.2139C>A (p.Ile713=) rs104895441 0.00002
NM_001370466.1(NOD2):c.2298G>A (p.Val766=) rs534738790 0.00002
NM_001370466.1(NOD2):c.2337C>G (p.Gly779=) rs199475916 0.00002
NM_001370466.1(NOD2):c.2528G>A (p.Arg843Lys) rs768889214 0.00002
NM_001370466.1(NOD2):c.2767A>C (p.Met923Leu) rs527892258 0.00002
NM_001370466.1(NOD2):c.2792A>G (p.Glu931Gly) rs746965976 0.00002
NM_001370466.1(NOD2):c.2802-2A>G rs564226539 0.00002
NM_001370466.1(NOD2):c.2970-16A>G rs530365159 0.00002
NM_001370466.1(NOD2):c.3012C>T (p.Leu1004=) rs201214915 0.00002
NM_001370466.1(NOD2):c.3015C>A (p.Gly1005=) rs765204397 0.00002
NM_001370466.1(NOD2):c.437C>T (p.Pro146Leu) rs770524298 0.00002
NM_001370466.1(NOD2):c.510C>T (p.Ala170=) rs765729513 0.00002
NM_001370466.1(NOD2):c.815G>A (p.Gly272Asp) rs771184127 0.00002
NM_001372051.1(CASP8):c.1137C>T (p.Pro379=) rs369704935 0.00002
NM_001372051.1(CASP8):c.120T>G (p.Asp40Glu) rs759793127 0.00002
NM_001372051.1(CASP8):c.1310A>T (p.Asp437Val) rs561729612 0.00002
NM_001372051.1(CASP8):c.306-1910G>A rs373232880 0.00002
NM_001372051.1(CASP8):c.306-1915A>G rs761301334 0.00002
NM_001372051.1(CASP8):c.306-1935G>A rs774427459 0.00002
NM_001372051.1(CASP8):c.660+6C>T rs370400442 0.00002
NM_001372051.1(CASP8):c.803-14A>T rs1419441273 0.00002
NM_001372051.1(CASP8):c.843C>A (p.Ile281=) rs199934929 0.00002
NM_001372051.1(CASP8):c.94C>G (p.Gln32Glu) rs999368756 0.00002
NM_005214.5(CTLA4):c.110-3T>C rs773279316 0.00002
NM_005214.5(CTLA4):c.117C>T (p.His39=) rs760446668 0.00002
NM_005214.5(CTLA4):c.171G>A (p.Val57=) rs373393185 0.00002
NM_006254.4(PRKCD):c.1060G>A (p.Val354Ile) rs782601434 0.00002
NM_006254.4(PRKCD):c.1086+16C>T rs373350409 0.00002
NM_006254.4(PRKCD):c.116-17del rs1553666741 0.00002
NM_006254.4(PRKCD):c.1206A>G (p.Thr402=) rs74485893 0.00002
NM_006254.4(PRKCD):c.1415+9G>A rs782267237 0.00002
NM_006254.4(PRKCD):c.1491G>T (p.Glu497Asp) rs781785325 0.00002
NM_006254.4(PRKCD):c.1511G>A (p.Arg504Gln) rs781836069 0.00002
NM_006254.4(PRKCD):c.1744-7G>A rs372537259 0.00002
NM_006254.4(PRKCD):c.1981G>A (p.Ala661Thr) rs149202171 0.00002
NM_006254.4(PRKCD):c.2003C>A (p.Pro668His) rs782557014 0.00002
NM_006254.4(PRKCD):c.2010C>T (p.Phe670=) rs781808423 0.00002
NM_006254.4(PRKCD):c.2028T>C (p.Asp676=) rs782403404 0.00002
NM_006254.4(PRKCD):c.255C>T (p.Thr85=) rs782661116 0.00002
NM_006254.4(PRKCD):c.300C>A (p.Gly100=) rs782734100 0.00002
NM_006254.4(PRKCD):c.315+16G>A rs782245021 0.00002
NM_006254.4(PRKCD):c.435C>T (p.Arg145=) rs782029128 0.00002
NM_006254.4(PRKCD):c.539+10G>A rs1437629018 0.00002
NM_006254.4(PRKCD):c.57C>T (p.Ala19=) rs377115507 0.00002
NM_006254.4(PRKCD):c.604G>A (p.Asp202Asn) rs149165175 0.00002
NM_006254.4(PRKCD):c.647G>A (p.Arg216Gln) rs782428011 0.00002
NM_006254.4(PRKCD):c.840C>T (p.Cys280=) rs145324216 0.00002
NM_006254.4(PRKCD):c.864T>C (p.Ala288=) rs782535622 0.00002
NM_006254.4(PRKCD):c.889-9C>T rs782612523 0.00002
NM_006254.4(PRKCD):c.986-7C>T rs781918067 0.00002
NM_007315.4(STAT1):c.1119A>G (p.Thr373=) rs749099290 0.00002
NM_007315.4(STAT1):c.1225T>C (p.Leu409=) rs756634860 0.00002
NM_007315.4(STAT1):c.1349C>T (p.Thr450Met) rs527393923 0.00002
NM_007315.4(STAT1):c.135C>T (p.His45=) rs566696388 0.00002
NM_007315.4(STAT1):c.1599C>T (p.Pro533=) rs747857564 0.00002
NM_007315.4(STAT1):c.1707G>A (p.Leu569=) rs199668489 0.00002
NM_007315.4(STAT1):c.2238+11C>T rs374341577 0.00002
NM_007315.4(STAT1):c.372+13C>T rs911316159 0.00002
NM_007315.4(STAT1):c.634-11A>G rs760467014 0.00002
NM_007315.4(STAT1):c.670A>T (p.Thr224Ser) rs771750276 0.00002
NM_007315.4(STAT1):c.735C>T (p.Ser245=) rs768384746 0.00002
NM_007315.4(STAT1):c.870A>G (p.Glu290=) rs767586956 0.00002
NM_007315.4(STAT1):c.948G>A (p.Ser316=) rs759164014 0.00002
NM_007315.4(STAT1):c.972C>T (p.Cys324=) rs1181331709 0.00002
NM_014009.4(FOXP3):c.105G>A (p.Leu35=) rs782359163 0.00002
NM_014009.4(FOXP3):c.1116C>A (p.Ala372=) rs1303706775 0.00002
NM_014009.4(FOXP3):c.1146+17T>C rs782486668 0.00002
NM_014009.4(FOXP3):c.116G>A (p.Arg39Gln) rs782639786 0.00002
NM_014009.4(FOXP3):c.1189C>T (p.Arg397Trp) rs28935477 0.00002
NM_014009.4(FOXP3):c.1200C>T (p.Ser400=) rs201723322 0.00002
NM_014009.4(FOXP3):c.140G>T (p.Gly47Val) rs1432262933 0.00002
NM_014009.4(FOXP3):c.157G>A (p.Gly53Arg) rs587780340 0.00002
NM_014009.4(FOXP3):c.201G>A (p.Ser67=) rs1296610779 0.00002
NM_014009.4(FOXP3):c.254G>A (p.Arg85Gln) rs782628979 0.00002
NM_014009.4(FOXP3):c.352C>G (p.Leu118Val) rs1373580534 0.00002
NM_014009.4(FOXP3):c.437G>A (p.Arg146Gln) rs1557116525 0.00002
NM_014009.4(FOXP3):c.439C>G (p.Pro147Ala) rs781856708 0.00002
NM_014009.4(FOXP3):c.505T>C (p.Cys169Arg) rs1237648287 0.00002
NM_014009.4(FOXP3):c.525T>C (p.Ser175=) rs1441216420 0.00002
NM_014009.4(FOXP3):c.611G>A (p.Cys204Tyr) rs368066149 0.00002
NM_014009.4(FOXP3):c.69G>A (p.Ser23=) rs376670807 0.00002
NM_014009.4(FOXP3):c.70C>T (p.Pro24Ser) rs1557116742 0.00002
NM_014009.4(FOXP3):c.736-14G>A rs76798919 0.00002
NM_014009.4(FOXP3):c.824C>T (p.Ser275Phe) rs1395972442 0.00002
NM_014009.4(FOXP3):c.836C>T (p.Ser279Phe) rs781902347 0.00002
NM_014009.4(FOXP3):c.896G>A (p.Arg299Gln) rs782188307 0.00002
NM_014009.4(FOXP3):c.977A>G (p.His326Arg) rs782429831 0.00002
NM_032977.4(CASP10):c.325C>T (p.Arg109Ter) rs201601111 0.00002
NM_032977.4(CASP10):c.347+2T>G rs536573363 0.00002
NM_032977.4(CASP10):c.348-4T>C rs760190275 0.00002
NM_032977.4(CASP10):c.554T>G (p.Ile185Arg) rs753049035 0.00002
NM_032977.4(CASP10):c.596C>T (p.Pro199Leu) rs200079223 0.00002
NM_032977.4(CASP10):c.600T>C (p.Pro200=) rs961213763 0.00002
NM_032977.4(CASP10):c.61C>T (p.Arg21Cys) rs559979934 0.00002
NM_033629.6(TREX1):c.286G>A (p.Gly96Arg) rs921270646 0.00002
NM_033629.6(TREX1):c.303T>C (p.Asp101=) rs140833802 0.00002
NM_033629.6(TREX1):c.383G>A (p.Arg128His) rs751124579 0.00002
NM_033629.6(TREX1):c.393C>G (p.Phe131Leu) rs749667732 0.00002
NM_033629.6(TREX1):c.394C>T (p.Pro132Ser) rs200510205 0.00002
NM_033629.6(TREX1):c.553C>T (p.Arg185Cys) rs145721839 0.00002
NM_033629.6(TREX1):c.555C>T (p.Arg185=) rs755796904 0.00002
NM_033629.6(TREX1):c.628T>C (p.Trp210Arg) rs770775387 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_033629.6(TREX1):c.813G>A (p.Lys271=) rs780078867 0.00002
NM_033629.6(TREX1):c.869C>T (p.Pro290Leu) rs148833270 0.00002
NM_033629.6(TREX1):c.894C>T (p.Thr298=) rs764559601 0.00002
NM_000043.6(FAS):c.163G>C (p.Asp55His) rs148677058 0.00001
NM_000043.6(FAS):c.217T>G (p.Cys73Gly) rs751654768 0.00001
NM_000043.6(FAS):c.246C>T (p.Cys82=) rs777751533 0.00001
NM_000043.6(FAS):c.270G>A (p.Glu90=) rs745375995 0.00001
NM_000043.6(FAS):c.30+12C>T rs558072404 0.00001
NM_000043.6(FAS):c.334+3A>C rs1848316496 0.00001
NM_000043.6(FAS):c.354C>T (p.Asn118=) rs1266114057 0.00001
NM_000043.6(FAS):c.379T>G (p.Cys127Gly) rs1848386782 0.00001
NM_000043.6(FAS):c.432C>A (p.Asp144Glu) rs574338716 0.00001
NM_000043.6(FAS):c.444-19C>T rs764387025 0.00001
NM_000043.6(FAS):c.506-14G>A rs766198534 0.00001
NM_000043.6(FAS):c.524G>A (p.Gly175Glu) rs752208395 0.00001
NM_000043.6(FAS):c.533G>A (p.Cys178Tyr) rs372866793 0.00001
NM_000043.6(FAS):c.608G>T (p.Arg203Ile) rs756880278 0.00001
NM_000043.6(FAS):c.637C>T (p.Pro213Ser) rs755532307 0.00001
NM_000043.6(FAS):c.666A>G (p.Ile222Met) rs767806688 0.00001
NM_000043.6(FAS):c.674C>G (p.Ser225Cys) rs1848626473 0.00001
NM_000043.6(FAS):c.694T>C (p.Tyr232His) rs767866112 0.00001
NM_000043.6(FAS):c.700A>G (p.Thr234Ala) rs962274229 0.00001
NM_000043.6(FAS):c.78A>G (p.Gln26=) rs746017530 0.00001
NM_000043.6(FAS):c.798T>C (p.Asn266=) rs758630212 0.00001
NM_000043.6(FAS):c.79G>A (p.Val27Met) rs201624874 0.00001
NM_000043.6(FAS):c.87C>T (p.Asp29=) rs1323745013 0.00001
NM_000043.6(FAS):c.885T>G (p.Ile295Met) rs1170990745 0.00001
NM_000043.6(FAS):c.937A>G (p.Ile313Val) rs751341397 0.00001
NM_000043.6(FAS):c.950A>G (p.Asp317Gly) rs200864612 0.00001
NM_000043.6(FAS):c.95C>A (p.Ser32Tyr) rs866603022 0.00001
NM_000383.4(AIRE):c.1015A>G (p.Ser339Gly) rs919219488 0.00001
NM_000383.4(AIRE):c.1023G>A (p.Leu341=) rs1352758309 0.00001
NM_000383.4(AIRE):c.1035C>T (p.Val345=) rs1480626384 0.00001
NM_000383.4(AIRE):c.1053G>A (p.Arg351=) rs760115494 0.00001
NM_000383.4(AIRE):c.1063C>A (p.Pro355Thr) rs1405678537 0.00001
NM_000383.4(AIRE):c.1063C>T (p.Pro355Ser) rs1405678537 0.00001
NM_000383.4(AIRE):c.1067G>A (p.Arg356Gln) rs752432041 0.00001
NM_000383.4(AIRE):c.1069C>T (p.Pro357Ser) rs200540137 0.00001
NM_000383.4(AIRE):c.1074G>A (p.Gln358=) rs1294643656 0.00001
NM_000383.4(AIRE):c.1095+5G>T rs1057522692 0.00001
NM_000383.4(AIRE):c.1096-16G>A rs374995530 0.00001
NM_000383.4(AIRE):c.1096-1G>A rs780906602 0.00001
NM_000383.4(AIRE):c.1098C>A (p.Leu366=) rs769360966 0.00001
NM_000383.4(AIRE):c.10G>A (p.Asp4Asn) rs1014398252 0.00001
NM_000383.4(AIRE):c.1132A>G (p.Arg378Gly) rs758775963 0.00001
NM_000383.4(AIRE):c.1142C>T (p.Pro381Leu) rs145243072 0.00001
NM_000383.4(AIRE):c.1161C>T (p.Gly387=) rs372895437 0.00001
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs) rs386833672 0.00001
NM_000383.4(AIRE):c.1170G>A (p.Thr390=) rs935084604 0.00001
NM_000383.4(AIRE):c.1179C>T (p.Val393=) rs752897977 0.00001
NM_000383.4(AIRE):c.117C>T (p.Pro39=) rs1033297636 0.00001
NM_000383.4(AIRE):c.1182C>T (p.Tyr394=) rs1482020075 0.00001
NM_000383.4(AIRE):c.118G>C (p.Glu40Gln) rs867495755 0.00001
NM_000383.4(AIRE):c.1194G>A (p.Pro398=) rs375536220 0.00001
NM_000383.4(AIRE):c.1210G>A (p.Ala404Thr) rs1340047804 0.00001
NM_000383.4(AIRE):c.1214C>T (p.Pro405Leu) rs769719554 0.00001
NM_000383.4(AIRE):c.1223G>C (p.Gly408Ala) rs751963717 0.00001
NM_000383.4(AIRE):c.1233C>T (p.Ser411=) rs1446995144 0.00001
NM_000383.4(AIRE):c.1243C>T (p.His415Tyr) rs752398254 0.00001
NM_000383.4(AIRE):c.1246C>T (p.Pro416Ser) rs199621393 0.00001
NM_000383.4(AIRE):c.1248C>G (p.Pro416=) rs74162064 0.00001
NM_000383.4(AIRE):c.1249C>T (p.Leu417=) rs1248107084 0.00001
NM_000383.4(AIRE):c.1271G>A (p.Gly424Asp) rs1208287091 0.00001
NM_000383.4(AIRE):c.1272T>C (p.Gly424=) rs527566053 0.00001
NM_000383.4(AIRE):c.1278+10G>A rs2040561918 0.00001
NM_000383.4(AIRE):c.1278+1G>A rs1184559866 0.00001
NM_000383.4(AIRE):c.1278+6C>T rs372612211 0.00001
NM_000383.4(AIRE):c.1279-20C>T rs1464505488 0.00001
NM_000383.4(AIRE):c.1282C>T (p.Leu428=) rs2040571465 0.00001
NM_000383.4(AIRE):c.1289C>T (p.Pro430Leu) rs751271727 0.00001
NM_000383.4(AIRE):c.1294G>A (p.Ala432Thr) rs1296392334 0.00001
NM_000383.4(AIRE):c.1295C>T (p.Ala432Val) rs531220961 0.00001
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs) rs763695515 0.00001
NM_000383.4(AIRE):c.1311C>T (p.Cys437=) rs771244760 0.00001
NM_000383.4(AIRE):c.132+17C>T rs1234416509 0.00001
NM_000383.4(AIRE):c.1338T>C (p.Cys446=) rs979048802 0.00001
NM_000383.4(AIRE):c.1345T>C (p.Cys449Arg) rs957681340 0.00001
NM_000383.4(AIRE):c.1350C>T (p.Ala450=) rs747182922 0.00001
NM_000383.4(AIRE):c.138G>A (p.Thr46=) rs376741040 0.00001
NM_000383.4(AIRE):c.1392C>A (p.Ser464=) rs759575621 0.00001
NM_000383.4(AIRE):c.1400+17G>A rs772820639 0.00001
NM_000383.4(AIRE):c.1400+19C>T rs368373038 0.00001
NM_000383.4(AIRE):c.1418G>A (p.Arg473Lys) rs750662701 0.00001
NM_000383.4(AIRE):c.1427C>T (p.Ser476Leu) rs754217318 0.00001
NM_000383.4(AIRE):c.1456G>C (p.Gly486Arg) rs749111202 0.00001
NM_000383.4(AIRE):c.1467C>T (p.Ala489=) rs1296834483 0.00001
NM_000383.4(AIRE):c.1480C>T (p.Arg494Cys) rs1465595959 0.00001
NM_000383.4(AIRE):c.1493G>A (p.Gly498Glu) rs1189029187 0.00001
NM_000383.4(AIRE):c.1503+8C>T rs1390347231 0.00001
NM_000383.4(AIRE):c.1503+9C>T rs984302778 0.00001
NM_000383.4(AIRE):c.1504-4C>T rs1314268321 0.00001
NM_000383.4(AIRE):c.1520A>T (p.His507Leu) rs373920616 0.00001
NM_000383.4(AIRE):c.1566+2T>A rs1057516985 0.00001
NM_000383.4(AIRE):c.1567-4G>A rs372099368 0.00001
NM_000383.4(AIRE):c.1617G>A (p.Pro539=) rs769335225 0.00001
NM_000383.4(AIRE):c.1619C>T (p.Ala540Val) rs376731017 0.00001
NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys) rs386833673 0.00001
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp) rs747941115 0.00001
NM_000383.4(AIRE):c.183C>T (p.Ala61=) rs1471783563 0.00001
NM_000383.4(AIRE):c.1A>G (p.Met1Val) rs121434258 0.00001
NM_000383.4(AIRE):c.1A>T (p.Met1Leu) rs121434258 0.00001
NM_000383.4(AIRE):c.21A>G (p.Leu7=) rs1347611962 0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys) rs1231469574 0.00001
NM_000383.4(AIRE):c.275G>A (p.Arg92Gln) rs1288735234 0.00001
NM_000383.4(AIRE):c.305A>G (p.Lys102Arg) rs777675955 0.00001
NM_000383.4(AIRE):c.308-12C>T rs753353875 0.00001
NM_000383.4(AIRE):c.308-1G>C rs764588340 0.00001
NM_000383.4(AIRE):c.353T>A (p.Val118Asp) rs772511282 0.00001
NM_000383.4(AIRE):c.424G>A (p.Ala142Thr) rs755258600 0.00001
NM_000383.4(AIRE):c.454G>A (p.Ala152Thr) rs771314896 0.00001
NM_000383.4(AIRE):c.459C>T (p.Ser153=) rs997396625 0.00001
NM_000383.4(AIRE):c.463+16G>C rs761329134 0.00001
NM_000383.4(AIRE):c.463+2T>C rs786204478 0.00001
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) rs193922418 0.00001
NM_000383.4(AIRE):c.468T>C (p.Ser156=) rs1265020470 0.00001
NM_000383.4(AIRE):c.477G>A (p.Lys159=) rs1192838059 0.00001
NM_000383.4(AIRE):c.489C>A (p.Pro163=) rs1006635868 0.00001
NM_000383.4(AIRE):c.51G>C (p.Glu17Asp) rs1036995518 0.00001
NM_000383.4(AIRE):c.534G>A (p.Gly178=) rs1160671214 0.00001
NM_000383.4(AIRE):c.538+3G>A rs557176517 0.00001
NM_000383.4(AIRE):c.590G>C (p.Gly197Ala) rs1185406745 0.00001
NM_000383.4(AIRE):c.624G>A (p.Gly208=) rs769510002 0.00001
NM_000383.4(AIRE):c.627C>T (p.Ile209=) rs775304437 0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val) rs179363886 0.00001
NM_000383.4(AIRE):c.652+8C>T rs1418632354 0.00001
NM_000383.4(AIRE):c.653-10C>G rs760848364 0.00001
NM_000383.4(AIRE):c.653-5C>T rs771182213 0.00001
NM_000383.4(AIRE):c.653-9T>A rs941927668 0.00001
NM_000383.4(AIRE):c.67G>A (p.Asp23Asn) rs975525470 0.00001
NM_000383.4(AIRE):c.789del (p.Ala264fs) rs387906295 0.00001
NM_000383.4(AIRE):c.794C>T (p.Ala265Val) rs775896896 0.00001
NM_000383.4(AIRE):c.798+5G>A rs1490186498 0.00001
NM_000383.4(AIRE):c.799-7C>T rs1287851004 0.00001
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878 0.00001
NM_000383.4(AIRE):c.840C>T (p.Pro280=) rs772423300 0.00001
NM_000383.4(AIRE):c.841G>A (p.Ala281Thr) rs778148534 0.00001
NM_000383.4(AIRE):c.843C>T (p.Ala281=) rs769454980 0.00001
NM_000383.4(AIRE):c.855C>T (p.Leu285=) rs267606152 0.00001
NM_000383.4(AIRE):c.860G>A (p.Ser287Asn) rs375819189 0.00001
NM_000383.4(AIRE):c.891C>T (p.Asp297=) rs527944302 0.00001
NM_000383.4(AIRE):c.892G>A (p.Glu298Lys) rs763636007 0.00001
NM_000383.4(AIRE):c.900C>T (p.Ala300=) rs536338321 0.00001
NM_000383.4(AIRE):c.90C>T (p.His30=) rs754316070 0.00001
NM_000383.4(AIRE):c.939C>T (p.Gly313=) rs2040535317 0.00001
NM_000383.4(AIRE):c.96G>T (p.Leu32=) rs987241240 0.00001
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu) rs179363885 0.00001
NM_000383.4(AIRE):c.983G>A (p.Arg328Gln) rs775921321 0.00001
NM_000383.4(AIRE):c.993C>T (p.Pro331=) rs761394248 0.00001
NM_000639.3(FASLG):c.113G>A (p.Arg38Lys) rs149563384 0.00001
NM_000639.3(FASLG):c.117G>T (p.Arg39Ser) rs373329523 0.00001
NM_000639.3(FASLG):c.119C>T (p.Pro40Leu) rs1256138927 0.00001
NM_000639.3(FASLG):c.170C>T (p.Pro57Leu) rs149883274 0.00001
NM_000639.3(FASLG):c.180G>A (p.Pro60=) rs753980291 0.00001
NM_000639.3(FASLG):c.243G>T (p.Leu81=) rs760651511 0.00001
NM_000639.3(FASLG):c.301A>G (p.Met101Val) rs747496936 0.00001
NM_000639.3(FASLG):c.319C>A (p.Leu107Ile) rs748768839 0.00001
NM_000639.3(FASLG):c.348+12G>A rs776445206 0.00001
NM_000639.3(FASLG):c.395-9A>G rs373975939 0.00001
NM_000639.3(FASLG):c.412C>T (p.Pro138Ser) rs756917304 0.00001
NM_000639.3(FASLG):c.451+8T>A rs372021169 0.00001
NM_000639.3(FASLG):c.452-12G>A rs759351686 0.00001
NM_000639.3(FASLG):c.474G>C (p.Met158Ile) rs888867585 0.00001
NM_000639.3(FASLG):c.503T>A (p.Ile168Asn) rs1291566237 0.00001
NM_000639.3(FASLG):c.561G>A (p.Gly187=) rs1267175575 0.00001
NM_000639.3(FASLG):c.579C>T (p.Ser193=) rs374974805 0.00001
NM_000639.3(FASLG):c.678G>A (p.Glu226=) rs752708760 0.00001
NM_000639.3(FASLG):c.692G>A (p.Ser231Asn) rs758377456 0.00001
NM_000639.3(FASLG):c.740C>A (p.Ala247Glu) rs80358237 0.00001
NM_000639.3(FASLG):c.781G>A (p.Val261Ile) rs201780506 0.00001
NM_001370466.1(NOD2):c.-8-2223G>T rs764563350 0.00001
NM_001370466.1(NOD2):c.-8-2223del rs1213629611 0.00001
NM_001370466.1(NOD2):c.1006A>T (p.Ile336Phe) rs104895470 0.00001
NM_001370466.1(NOD2):c.1070T>A (p.Phe357Tyr) rs777343284 0.00001
NM_001370466.1(NOD2):c.1090C>T (p.Arg364Cys) rs104895481 0.00001
NM_001370466.1(NOD2):c.1091G>A (p.Arg364His) rs554887705 0.00001
NM_001370466.1(NOD2):c.1140C>T (p.Leu380=) rs963957987 0.00001
NM_001370466.1(NOD2):c.1177C>T (p.Arg393Cys) rs367883043 0.00001
NM_001370466.1(NOD2):c.1182G>A (p.Lys394=) rs749142500 0.00001
NM_001370466.1(NOD2):c.1195C>T (p.Arg399Cys) rs545466982 0.00001
NM_001370466.1(NOD2):c.1206T>C (p.Ala402=) rs1205006732 0.00001
NM_001370466.1(NOD2):c.1222A>G (p.Arg408Gly) rs768389547 0.00001
NM_001370466.1(NOD2):c.1230C>T (p.Tyr410=) rs771979324 0.00001
NM_001370466.1(NOD2):c.1276G>A (p.Glu426Lys) rs556728426 0.00001
NM_001370466.1(NOD2):c.1293G>A (p.Lys431=) rs1430003119 0.00001
NM_001370466.1(NOD2):c.1299T>C (p.His433=) rs1964479363 0.00001
NM_001370466.1(NOD2):c.1316C>T (p.Ala439Val) rs776802746 0.00001
NM_001370466.1(NOD2):c.1332C>T (p.Arg444=) rs770712938 0.00001
NM_001370466.1(NOD2):c.1354C>T (p.Leu452=) rs898706797 0.00001
NM_001370466.1(NOD2):c.1359C>T (p.His453=) rs753323790 0.00001
NM_001370466.1(NOD2):c.1413A>C (p.Glu471Asp) rs1361409611 0.00001
NM_001370466.1(NOD2):c.1428G>A (p.Glu476=) rs104895434 0.00001
NM_001370466.1(NOD2):c.1459T>C (p.Tyr487His) rs540122692 0.00001
NM_001370466.1(NOD2):c.1478A>G (p.His493Arg) rs757269951 0.00001
NM_001370466.1(NOD2):c.1492G>A (p.Ala498Thr) rs1283801598 0.00001
NM_001370466.1(NOD2):c.1500C>G (p.Pro500=) rs104895435 0.00001
NM_001370466.1(NOD2):c.1530C>T (p.Pro510=) rs750399794 0.00001
NM_001370466.1(NOD2):c.1563G>A (p.Leu521=) rs369085294 0.00001
NM_001370466.1(NOD2):c.1602C>T (p.Cys534=) rs1248700534 0.00001
NM_001370466.1(NOD2):c.1609G>A (p.Val537Met) rs760678831 0.00001
NM_001370466.1(NOD2):c.1677G>T (p.Val559=) rs369719210 0.00001
NM_001370466.1(NOD2):c.1755G>A (p.Ala585=) rs756626309 0.00001
NM_001370466.1(NOD2):c.1765G>A (p.Ala589Thr) rs747674172 0.00001
NM_001370466.1(NOD2):c.179G>A (p.Arg60His) rs983465914 0.00001
NM_001370466.1(NOD2):c.1802A>G (p.His601Arg) rs746653187 0.00001
NM_001370466.1(NOD2):c.1848C>T (p.Leu616=) rs764199623 0.00001
NM_001370466.1(NOD2):c.185T>A (p.Leu62Gln) rs1286052486 0.00001
NM_001370466.1(NOD2):c.1879G>A (p.Gly627Arg) rs777290315 0.00001
NM_001370466.1(NOD2):c.188A>T (p.Asp63Val) rs747221457 0.00001
NM_001370466.1(NOD2):c.1900G>C (p.Ala634Pro) rs369957746 0.00001
NM_001370466.1(NOD2):c.1906C>T (p.Leu636=) rs762922997 0.00001
NM_001370466.1(NOD2):c.1929C>T (p.Asn643=) rs104895475 0.00001
NM_001370466.1(NOD2):c.1957G>A (p.Gly653Arg) rs371339573 0.00001
NM_001370466.1(NOD2):c.198G>A (p.Trp66Ter) rs761449474 0.00001
NM_001370466.1(NOD2):c.2029C>T (p.Gln677Ter) rs755721919 0.00001
NM_001370466.1(NOD2):c.2046G>A (p.Trp682Ter) rs776701942 0.00001
NM_001370466.1(NOD2):c.2079C>T (p.His693=) rs755568125 0.00001
NM_001370466.1(NOD2):c.2082C>T (p.Ser694=) rs766123432 0.00001
NM_001370466.1(NOD2):c.2150G>A (p.Arg717Gln) rs751849531 0.00001
NM_001370466.1(NOD2):c.2161G>A (p.Glu721Lys) rs757403209 0.00001
NM_001370466.1(NOD2):c.2176C>T (p.Arg726Trp) rs749720540 0.00001
NM_001370466.1(NOD2):c.2181G>A (p.Leu727=) rs199475915 0.00001
NM_001370466.1(NOD2):c.2192C>T (p.Ala731Val) rs104895442 0.00001
NM_001370466.1(NOD2):c.2197C>T (p.Arg733Cys) rs3813758 0.00001
NM_001370466.1(NOD2):c.220C>G (p.Gln74Glu) rs753619374 0.00001
NM_001370466.1(NOD2):c.2297T>C (p.Val766Ala) rs1200152449 0.00001
NM_001370466.1(NOD2):c.22C>T (p.Gln8Ter) rs1567380372 0.00001
NM_001370466.1(NOD2):c.2304G>C (p.Leu768=) rs1164125645 0.00001
NM_001370466.1(NOD2):c.231C>T (p.Ile77=) rs778843858 0.00001
NM_001370466.1(NOD2):c.2338G>A (p.Val780Met) rs748522514 0.00001
NM_001370466.1(NOD2):c.2353C>T (p.Pro785Ser) rs746692864 0.00001
NM_001370466.1(NOD2):c.2387G>A (p.Arg796His) rs768930237 0.00001
NM_001370466.1(NOD2):c.2390A>G (p.Asp797Gly) rs778481419 0.00001
NM_001370466.1(NOD2):c.2413A>T (p.Ile805Phe) rs765335094 0.00001
NM_001370466.1(NOD2):c.2427T>C (p.Ile809=) rs764369783 0.00001
NM_001370466.1(NOD2):c.2434G>T (p.Ala812Ser) rs757680896 0.00001
NM_001370466.1(NOD2):c.2443T>C (p.Cys815Arg) rs146313066 0.00001
NM_001370466.1(NOD2):c.2444G>A (p.Cys815Tyr) rs754471017 0.00001
NM_001370466.1(NOD2):c.2445C>T (p.Cys815=) rs778447050 0.00001
NM_001370466.1(NOD2):c.2534A>G (p.Asn845Ser) rs201806207 0.00001
NM_001370466.1(NOD2):c.2550-19C>G rs545121947 0.00001
NM_001370466.1(NOD2):c.2553G>A (p.Leu851=) rs1283225496 0.00001
NM_001370466.1(NOD2):c.2575G>A (p.Ala859Thr) rs376366287 0.00001
NM_001370466.1(NOD2):c.2576C>T (p.Ala859Val) rs565200911 0.00001
NM_001370466.1(NOD2):c.2596G>A (p.Glu866Lys) rs201884393 0.00001
NM_001370466.1(NOD2):c.2605C>T (p.Arg869Ter) rs769101191 0.00001
NM_001370466.1(NOD2):c.2618C>T (p.Ser873Phe) rs199552944 0.00001
NM_001370466.1(NOD2):c.2619C>T (p.Ser873=) rs759227592 0.00001
NM_001370466.1(NOD2):c.2654G>C (p.Gly885Ala) rs779300567 0.00001
NM_001370466.1(NOD2):c.2719C>G (p.Leu907Val) rs771833402 0.00001
NM_001370466.1(NOD2):c.2721G>A (p.Leu907=) rs149691662 0.00001
NM_001370466.1(NOD2):c.273G>A (p.Lys91=) rs766071199 0.00001
NM_001370466.1(NOD2):c.278A>G (p.His93Arg) rs959869589 0.00001
NM_001370466.1(NOD2):c.2801+18T>C rs986964282 0.00001
NM_001370466.1(NOD2):c.2816A>G (p.His939Arg) rs189453919 0.00001
NM_001370466.1(NOD2):c.2828A>G (p.Glu943Gly) rs371389581 0.00001
NM_001370466.1(NOD2):c.2885+6G>T rs546478048 0.00001
NM_001370466.1(NOD2):c.2903T>C (p.Ile968Thr) rs1306240431 0.00001
NM_001370466.1(NOD2):c.2929C>G (p.Leu977Val) rs772487940 0.00001
NM_001370466.1(NOD2):c.2931G>A (p.Leu977=) rs773388366 0.00001
NM_001370466.1(NOD2):c.2935G>C (p.Ala979Pro) rs199883290 0.00001
NM_001370466.1(NOD2):c.2938C>T (p.Leu980Phe) rs761083670 0.00001
NM_001370466.1(NOD2):c.295C>G (p.His99Asp) rs781448444 0.00001
NM_001370466.1(NOD2):c.2971C>T (p.Leu991Phe) rs146435555 0.00001
NM_001370466.1(NOD2):c.3011T>A (p.Leu1004His) rs1451481984 0.00001
NM_001370466.1(NOD2):c.314G>A (p.Arg105Gln) rs781540619 0.00001
NM_001370466.1(NOD2):c.323A>G (p.Gln108Arg) rs770240116 0.00001
NM_001370466.1(NOD2):c.334C>T (p.Pro112Ser) rs749841667 0.00001
NM_001370466.1(NOD2):c.394C>T (p.Arg132Trp) rs562557464 0.00001
NM_001370466.1(NOD2):c.395G>A (p.Arg132Gln) rs150996156 0.00001
NM_001370466.1(NOD2):c.42G>C (p.Leu14=) rs1963825955 0.00001
NM_001370466.1(NOD2):c.435G>C (p.Leu145Phe) rs1292846110 0.00001
NM_001370466.1(NOD2):c.438G>A (p.Pro146=) rs77153279 0.00001
NM_001370466.1(NOD2):c.449C>T (p.Pro150Leu) rs144368009 0.00001
NM_001370466.1(NOD2):c.461C>A (p.Ala154Glu) rs141414002 0.00001
NM_001370466.1(NOD2):c.50T>A (p.Leu17Gln) rs757914381 0.00001
NM_001370466.1(NOD2):c.516T>C (p.Leu172=) rs201115206 0.00001
NM_001370466.1(NOD2):c.519A>G (p.Leu173=) rs778078737 0.00001
NM_001370466.1(NOD2):c.545C>T (p.Pro182Leu) rs753744335 0.00001
NM_001370466.1(NOD2):c.565+1G>A rs766614906 0.00001
NM_001370466.1(NOD2):c.565+4G>A rs776802652 0.00001
NM_001370466.1(NOD2):c.566-7C>T rs750917301 0.00001
NM_001370466.1(NOD2):c.600G>A (p.Arg200=) rs777458605 0.00001
NM_001370466.1(NOD2):c.658T>C (p.Cys220Arg) rs764675751 0.00001
NM_001370466.1(NOD2):c.659G>T (p.Cys220Phe) rs752210177 0.00001
NM_001370466.1(NOD2):c.678A>T (p.Thr226=) rs781099046 0.00001
NM_001370466.1(NOD2):c.841C>T (p.Leu281Phe) rs1267341301 0.00001
NM_001370466.1(NOD2):c.851G>A (p.Arg284Gln) rs778995814 0.00001
NM_001370466.1(NOD2):c.917G>A (p.Cys306Tyr) rs1307391583 0.00001
NM_001370466.1(NOD2):c.955C>T (p.Arg319Trp) rs753537879 0.00001
NM_001370466.1(NOD2):c.986C>T (p.Pro329Leu) rs201107567 0.00001
NM_001372051.1(CASP8):c.1001A>G (p.Tyr334Cys) rs772661314 0.00001
NM_001372051.1(CASP8):c.1038T>C (p.Pro346=) rs768360449 0.00001
NM_001372051.1(CASP8):c.1132C>A (p.Gln378Lys) rs1164535571 0.00001
NM_001372051.1(CASP8):c.1158A>G (p.Ser386=) rs773959767 0.00001
NM_001372051.1(CASP8):c.1165C>T (p.Gln389Ter) rs747862347 0.00001
NM_001372051.1(CASP8):c.1201C>T (p.Leu401=) rs752967014 0.00001
NM_001372051.1(CASP8):c.1215T>C (p.Thr405=) rs764213462 0.00001
NM_001372051.1(CASP8):c.1304+9_1304+96del rs1576390913 0.00001
NM_001372051.1(CASP8):c.1307G>A (p.Gly436Asp) rs1235505270 0.00001
NM_001372051.1(CASP8):c.195G>A (p.Leu65=) rs1304411859 0.00001
NM_001372051.1(CASP8):c.234C>T (p.Tyr78=) rs770724721 0.00001
NM_001372051.1(CASP8):c.251A>G (p.Glu84Gly) rs1292450812 0.00001
NM_001372051.1(CASP8):c.260A>G (p.Glu87Gly) rs763043263 0.00001
NM_001372051.1(CASP8):c.267A>G (p.Glu89=) rs1415027065 0.00001
NM_001372051.1(CASP8):c.286G>T (p.Ala96Ser) rs762297913 0.00001
NM_001372051.1(CASP8):c.289C>A (p.Gln97Lys) rs1489585227 0.00001
NM_001372051.1(CASP8):c.306-1911G>A rs796850798 0.00001
NM_001372051.1(CASP8):c.306-1993C>T rs773675844 0.00001
NM_001372051.1(CASP8):c.306-2014C>T rs574310665 0.00001
NM_001372051.1(CASP8):c.306-2017G>T rs1487695452 0.00001
NM_001372051.1(CASP8):c.311T>C (p.Met104Thr) rs1387029323 0.00001
NM_001372051.1(CASP8):c.399G>A (p.Leu133=) rs150515363 0.00001
NM_001372051.1(CASP8):c.411+1G>C rs1948252170 0.00001
NM_001372051.1(CASP8):c.411+7C>T rs1158042987 0.00001
NM_001372051.1(CASP8):c.411+9del rs1948253453 0.00001
NM_001372051.1(CASP8):c.412-7C>T rs1264825227 0.00001
NM_001372051.1(CASP8):c.414C>T (p.Asn138=) rs746428268 0.00001
NM_001372051.1(CASP8):c.465A>G (p.Gly155=) rs1224509970 0.00001
NM_001372051.1(CASP8):c.596-12C>T rs756817274 0.00001
NM_001372051.1(CASP8):c.660+7G>A rs766429077 0.00001
NM_001372051.1(CASP8):c.697C>T (p.Arg233Trp) rs760898260 0.00001
NM_001372051.1(CASP8):c.741A>G (p.Ala247=) rs776036102 0.00001
NM_001372051.1(CASP8):c.742C>T (p.Arg248Trp) rs17860424 0.00001
NM_001372051.1(CASP8):c.778A>G (p.Arg260Gly) rs1350639573 0.00001
NM_001372051.1(CASP8):c.802+4C>A rs746813867 0.00001
NM_001372051.1(CASP8):c.819C>T (p.Thr273=) rs1369950873 0.00001
NM_001372051.1(CASP8):c.84C>T (p.Asp28=) rs368413113 0.00001
NM_001372051.1(CASP8):c.92C>T (p.Pro31Leu) rs748087575 0.00001
NM_001372051.1(CASP8):c.969C>T (p.Ile323=) rs1447639128 0.00001
NM_005214.5(CTLA4):c.110-7A>G rs200180357 0.00001
NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln) rs1581573705 0.00001
NM_005214.5(CTLA4):c.211G>T (p.Val71Leu) rs1347670398 0.00001
NM_005214.5(CTLA4):c.216A>G (p.Thr72=) rs199943943 0.00001
NM_005214.5(CTLA4):c.219G>C (p.Val73=) rs866679318 0.00001
NM_005214.5(CTLA4):c.223C>T (p.Arg75Trp) rs1688714312 0.00001
NM_005214.5(CTLA4):c.265T>C (p.Tyr89His) rs1403336336 0.00001
NM_005214.5(CTLA4):c.311C>T (p.Thr104Met) rs759232662 0.00001
NM_005214.5(CTLA4):c.352G>C (p.Gly118Arg) rs764089901 0.00001
NM_005214.5(CTLA4):c.371C>T (p.Thr124Met) rs757773669 0.00001
NM_005214.5(CTLA4):c.384C>G (p.Ile128Met) rs750841862 0.00001
NM_005214.5(CTLA4):c.42C>T (p.Asn14=) rs376591332 0.00001
NM_005214.5(CTLA4):c.467C>T (p.Pro156Leu) rs756706504 0.00001
NM_005214.5(CTLA4):c.501T>C (p.Leu167=) rs749059847 0.00001
NM_005214.5(CTLA4):c.515C>T (p.Ser172Leu) rs963824682 0.00001
NM_005214.5(CTLA4):c.553T>A (p.Ser185Thr) rs773775010 0.00001
NM_005214.5(CTLA4):c.619A>G (p.Thr207Ala) rs1278638729 0.00001
NM_005214.5(CTLA4):c.626C>G (p.Pro209Arg) rs778534474 0.00001
NM_005214.5(CTLA4):c.62C>G (p.Pro21Arg) rs1041117695 0.00001
NM_005214.5(CTLA4):c.63C>T (p.Pro21=) rs1290173158 0.00001
NM_005214.5(CTLA4):c.87C>T (p.Leu29=) rs145950656 0.00001
NM_006254.4(PRKCD):c.1036A>G (p.Ile346Val) rs1434557148 0.00001
NM_006254.4(PRKCD):c.1051T>G (p.Phe351Val) rs782444193 0.00001
NM_006254.4(PRKCD):c.1086+9T>C rs1486351156 0.00001
NM_006254.4(PRKCD):c.1123T>G (p.Phe375Val) rs1003630344 0.00001
NM_006254.4(PRKCD):c.115+9G>A rs782712864 0.00001
NM_006254.4(PRKCD):c.1176G>A (p.Glu392=) rs782735766 0.00001
NM_006254.4(PRKCD):c.1184T>C (p.Met395Thr) rs1010140622 0.00001
NM_006254.4(PRKCD):c.1231A>G (p.Thr411Ala) rs1553669078 0.00001
NM_006254.4(PRKCD):c.1260+16G>C rs1553669090 0.00001
NM_006254.4(PRKCD):c.1353-20T>C rs1553669452 0.00001
NM_006254.4(PRKCD):c.1376G>A (p.Cys459Tyr) rs1553669478 0.00001
NM_006254.4(PRKCD):c.140A>G (p.Lys47Arg) rs1553666756 0.00001
NM_006254.4(PRKCD):c.1448G>A (p.Arg483Gln) rs879255393 0.00001
NM_006254.4(PRKCD):c.1501G>T (p.Gly501Trp) rs782726901 0.00001
NM_006254.4(PRKCD):c.1554+12C>T rs201210965 0.00001
NM_006254.4(PRKCD):c.1555-5G>A rs782208259 0.00001
NM_006254.4(PRKCD):c.1635G>A (p.Gln545=) rs782122153 0.00001
NM_006254.4(PRKCD):c.1672G>A (p.Glu558Lys) rs1575544853 0.00001
NM_006254.4(PRKCD):c.1726A>G (p.Lys576Glu) rs782371398 0.00001
NM_006254.4(PRKCD):c.1727A>G (p.Lys576Arg) rs782006621 0.00001
NM_006254.4(PRKCD):c.1744C>T (p.Leu582Phe) rs781964037 0.00001
NM_006254.4(PRKCD):c.1791C>A (p.Ile597=) rs782819653 0.00001
NM_006254.4(PRKCD):c.1840C>T (p.Arg614Trp) rs606231297 0.00001
NM_006254.4(PRKCD):c.1844G>T (p.Arg615Met) rs74838104 0.00001
NM_006254.4(PRKCD):c.1941C>T (p.Ser647=) rs781997779 0.00001
NM_006254.4(PRKCD):c.1942G>A (p.Asp648Asn) rs1305829710 0.00001
NM_006254.4(PRKCD):c.1957G>A (p.Asp653Asn) rs781914241 0.00001
NM_006254.4(PRKCD):c.195G>C (p.Glu65Asp) rs1196790794 0.00001
NM_006254.4(PRKCD):c.2002C>T (p.Pro668Ser) rs148364495 0.00001
NM_006254.4(PRKCD):c.202G>A (p.Val68Ile) rs781950537 0.00001
NM_006254.4(PRKCD):c.21C>T (p.Ile7=) rs373946656 0.00001
NM_006254.4(PRKCD):c.225G>C (p.Arg75=) rs781815061 0.00001
NM_006254.4(PRKCD):c.22G>A (p.Ala8Thr) rs368029897 0.00001
NM_006254.4(PRKCD):c.243G>C (p.Val81=) rs782530190 0.00001
NM_006254.4(PRKCD):c.256G>A (p.Val86Met) rs782298081 0.00001
NM_006254.4(PRKCD):c.264G>T (p.Val88=) rs782433548 0.00001
NM_006254.4(PRKCD):c.268G>A (p.Val90Met) rs1015113720 0.00001
NM_006254.4(PRKCD):c.276C>T (p.Ala92=) rs782352450 0.00001
NM_006254.4(PRKCD):c.297T>A (p.Asn99Lys) rs561142814 0.00001
NM_006254.4(PRKCD):c.377-10T>C rs782061483 0.00001
NM_006254.4(PRKCD):c.384A>G (p.Lys128=) rs1339098133 0.00001
NM_006254.4(PRKCD):c.394C>T (p.Arg132Cys) rs375221270 0.00001
NM_006254.4(PRKCD):c.492C>A (p.Thr164=) rs187146419 0.00001
NM_006254.4(PRKCD):c.531C>G (p.Asp177Glu) rs1240610213 0.00001
NM_006254.4(PRKCD):c.540-18C>T rs75301864 0.00001
NM_006254.4(PRKCD):c.549C>A (p.Asn183Lys) rs1378624159 0.00001
NM_006254.4(PRKCD):c.567C>T (p.Cys189=) rs150667829 0.00001
NM_006254.4(PRKCD):c.580G>A (p.Ala194Thr) rs782475090 0.00001
NM_006254.4(PRKCD):c.584C>T (p.Ala195Val) rs977894332 0.00001
NM_006254.4(PRKCD):c.5C>T (p.Ala2Val) rs781958692 0.00001
NM_006254.4(PRKCD):c.615C>T (p.Ile205=) rs782677594 0.00001
NM_006254.4(PRKCD):c.616G>A (p.Gly206Ser) rs957946153 0.00001
NM_006254.4(PRKCD):c.631A>T (p.Thr211Ser) rs1252661978 0.00001
NM_006254.4(PRKCD):c.635C>T (p.Ala212Val) rs782237403 0.00001
NM_006254.4(PRKCD):c.64G>A (p.Glu22Lys) rs1553666417 0.00001
NM_006254.4(PRKCD):c.652A>G (p.Thr218Ala) rs1311722771 0.00001
NM_006254.4(PRKCD):c.678C>T (p.Asn226=) rs78938657 0.00001
NM_006254.4(PRKCD):c.729C>T (p.Phe243=) rs782340381 0.00001
NM_006254.4(PRKCD):c.788-2A>G rs1295207359 0.00001
NM_006254.4(PRKCD):c.792C>T (p.Cys264=) rs1553668629 0.00001
NM_006254.4(PRKCD):c.793G>A (p.Gly265Ser) rs373245386 0.00001
NM_006254.4(PRKCD):c.869C>T (p.Ala290Val) rs1186631774 0.00001
NM_006254.4(PRKCD):c.884C>T (p.Thr295Ile) rs782223934 0.00001
NM_006254.4(PRKCD):c.890G>A (p.Arg297Lys) rs782243565 0.00001
NM_006254.4(PRKCD):c.894C>T (p.Ala298=) rs782394276 0.00001
NM_006254.4(PRKCD):c.925C>G (p.Pro309Ala) rs1703647874 0.00001
NM_006254.4(PRKCD):c.928G>A (p.Val310Ile) rs773144753 0.00001
NM_006254.4(PRKCD):c.985+10G>T rs781842377 0.00001
NM_006254.4(PRKCD):c.991A>G (p.Ser331Gly) rs140359417 0.00001
NM_006254.4(PRKCD):c.9G>A (p.Pro3=) rs1354110835 0.00001
NM_007315.4(STAT1):c.1011A>G (p.Thr337=) rs763252598 0.00001
NM_007315.4(STAT1):c.1011_1012del (p.Val339fs) rs768767763 0.00001
NM_007315.4(STAT1):c.1038-3C>T rs374148252 0.00001
NM_007315.4(STAT1):c.1060C>T (p.Leu354=) rs1224130066 0.00001
NM_007315.4(STAT1):c.1086C>T (p.Val362=) rs1422113035 0.00001
NM_007315.4(STAT1):c.1097+3A>G rs1225283533 0.00001
NM_007315.4(STAT1):c.1097+6A>G rs1485704994 0.00001
NM_007315.4(STAT1):c.1098-13A>T rs45527832 0.00001
NM_007315.4(STAT1):c.1117A>T (p.Thr373Ser) rs768434440 0.00001
NM_007315.4(STAT1):c.1127+18C>T rs190749206 0.00001
NM_007315.4(STAT1):c.1221+11C>A rs1033197461 0.00001
NM_007315.4(STAT1):c.1222-3T>C rs886055379 0.00001
NM_007315.4(STAT1):c.1233A>G (p.Glu411=) rs201555918 0.00001
NM_007315.4(STAT1):c.1272C>T (p.Leu424=) rs777989690 0.00001
NM_007315.4(STAT1):c.1275C>T (p.Ile425=) rs373080372 0.00001
NM_007315.4(STAT1):c.1276G>A (p.Val426Ile) rs143182587 0.00001
NM_007315.4(STAT1):c.1317G>A (p.Leu439=) rs1027635150 0.00001
NM_007315.4(STAT1):c.1336A>G (p.Ile446Val) rs1313271807 0.00001
NM_007315.4(STAT1):c.1344C>T (p.Leu448=) rs773084786 0.00001
NM_007315.4(STAT1):c.1348-19G>A rs1328692797 0.00001
NM_007315.4(STAT1):c.1348A>G (p.Thr450Ala) rs1364125268 0.00001
NM_007315.4(STAT1):c.1392C>T (p.Leu464=) rs761609728 0.00001
NM_007315.4(STAT1):c.1395G>A (p.Pro465=) rs774119065 0.00001
NM_007315.4(STAT1):c.1398C>T (p.Ser466=) rs763759889 0.00001
NM_007315.4(STAT1):c.1399G>A (p.Gly467Ser) rs762390015 0.00001
NM_007315.4(STAT1):c.1447-8C>G rs769967623 0.00001
NM_007315.4(STAT1):c.1544A>G (p.Asn515Ser) rs190269533 0.00001
NM_007315.4(STAT1):c.1583-6G>T rs764896742 0.00001
NM_007315.4(STAT1):c.1619C>T (p.Thr540Met) rs753414973 0.00001
NM_007315.4(STAT1):c.1633-10A>G rs200571234 0.00001
NM_007315.4(STAT1):c.1727+10A>G rs1429277615 0.00001
NM_007315.4(STAT1):c.1744A>G (p.Ile582Val) rs774306421 0.00001
NM_007315.4(STAT1):c.1765G>T (p.Ala589Ser) rs745491762 0.00001
NM_007315.4(STAT1):c.1874-11C>T rs749737547 0.00001
NM_007315.4(STAT1):c.2003A>T (p.Tyr668Phe) rs771679419 0.00001
NM_007315.4(STAT1):c.2139C>T (p.His713=) rs761039891 0.00001
NM_007315.4(STAT1):c.2196C>T (p.Asp732=) rs778900428 0.00001
NM_007315.4(STAT1):c.2229C>T (p.Phe743=) rs749333159 0.00001
NM_007315.4(STAT1):c.2239-16T>C rs966938422 0.00001
NM_007315.4(STAT1):c.274-3T>C rs777002134 0.00001
NM_007315.4(STAT1):c.318C>T (p.Tyr106=) rs778063346 0.00001
NM_007315.4(STAT1):c.368A>G (p.Asn123Ser) rs778751233 0.00001
NM_007315.4(STAT1):c.372+12del rs1371149318 0.00001
NM_007315.4(STAT1):c.380C>T (p.Ser127Leu) rs768483703 0.00001
NM_007315.4(STAT1):c.420A>G (p.Lys140=) rs755882174 0.00001
NM_007315.4(STAT1):c.426T>C (p.Leu142=) rs183788866 0.00001
NM_007315.4(STAT1):c.463-14A>G rs777203610 0.00001
NM_007315.4(STAT1):c.463-4G>T rs367840028 0.00001
NM_007315.4(STAT1):c.478A>C (p.Ile160Leu) rs371548986 0.00001
NM_007315.4(STAT1):c.541+4A>G rs763122792 0.00001
NM_007315.4(STAT1):c.541+7G>T rs981229725 0.00001
NM_007315.4(STAT1):c.542-7T>C rs538885747 0.00001
NM_007315.4(STAT1):c.554A>G (p.Asn185Ser) rs1051397529 0.00001
NM_007315.4(STAT1):c.579A>G (p.Lys193=) rs370337308 0.00001
NM_007315.4(STAT1):c.743T>C (p.Ile248Thr) rs779371351 0.00001
NM_007315.4(STAT1):c.75T>C (p.Ser25=) rs1306695738 0.00001
NM_007315.4(STAT1):c.861C>T (p.Tyr287=) rs888084670 0.00001
NM_007315.4(STAT1):c.882C>T (p.Ile294=) rs999631915 0.00001
NM_007315.4(STAT1):c.944+4A>G rs774979554 0.00001
NM_007315.4(STAT1):c.987T>G (p.Pro329=) rs1187374790 0.00001
NM_014009.4(FOXP3):c.1032G>A (p.Thr344=) rs781905807 0.00001
NM_014009.4(FOXP3):c.1045-13C>T rs781966644 0.00001
NM_014009.4(FOXP3):c.1073G>A (p.Arg358Gln) rs1428528910 0.00001
NM_014009.4(FOXP3):c.119G>A (p.Gly40Asp) rs781805416 0.00001
NM_014009.4(FOXP3):c.124G>A (p.Gly42Arg) rs782178764 0.00001
NM_014009.4(FOXP3):c.130A>G (p.Thr44Ala) rs782474624 0.00001
NM_014009.4(FOXP3):c.200C>T (p.Ser67Leu) rs1382549860 0.00001
NM_014009.4(FOXP3):c.211-20C>A rs781982592 0.00001
NM_014009.4(FOXP3):c.247G>A (p.Gly83Arg) rs868911396 0.00001
NM_014009.4(FOXP3):c.315+8C>T rs782558220 0.00001
NM_014009.4(FOXP3):c.508A>G (p.Thr170Ala) rs782694663 0.00001
NM_014009.4(FOXP3):c.552G>A (p.Ser184=) rs782085584 0.00001
NM_014009.4(FOXP3):c.597C>T (p.Cys199=) rs782377881 0.00001
NM_014009.4(FOXP3):c.625G>A (p.Glu209Lys) rs143048239 0.00001
NM_014009.4(FOXP3):c.631C>G (p.Pro211Ala) rs374109896 0.00001
NM_014009.4(FOXP3):c.647+16C>T rs2066075855 0.00001
NM_014009.4(FOXP3):c.648-15C>T rs1183403474 0.00001
NM_014009.4(FOXP3):c.711G>A (p.Glu237=) rs1557116204 0.00001
NM_014009.4(FOXP3):c.805G>A (p.Ala269Thr) rs781999579 0.00001
NM_014009.4(FOXP3):c.817-9C>T rs1166432395 0.00001
NM_014009.4(FOXP3):c.959C>A (p.Thr320Lys) rs781881326 0.00001
NM_032977.4(CASP10):c.1038C>T (p.Ala346=) rs745897610 0.00001
NM_032977.4(CASP10):c.1041C>T (p.Asp347=) rs1326342299 0.00001
NM_032977.4(CASP10):c.1060T>C (p.Cys354Arg) rs1233007817 0.00001
NM_032977.4(CASP10):c.1100C>T (p.Ser367Leu) rs774726645 0.00001
NM_032977.4(CASP10):c.1113C>T (p.Leu371=) rs1400007183 0.00001
NM_032977.4(CASP10):c.1159C>G (p.Pro387Ala) rs759782468 0.00001
NM_032977.4(CASP10):c.1197G>T (p.Gln399His) rs199626441 0.00001
NM_032977.4(CASP10):c.1227C>T (p.Ser409=) rs371401141 0.00001
NM_032977.4(CASP10):c.1283A>G (p.Asp428Gly) rs775030613 0.00001
NM_032977.4(CASP10):c.1288A>T (p.Ile430Phe) rs762718326 0.00001
NM_032977.4(CASP10):c.1348C>T (p.Arg450Trp) rs758842495 0.00001
NM_032977.4(CASP10):c.1395T>C (p.His465=) rs199853584 0.00001
NM_032977.4(CASP10):c.1415+2T>C rs574742344 0.00001
NM_032977.4(CASP10):c.1416-17T>A rs1421515205 0.00001
NM_032977.4(CASP10):c.142C>T (p.Pro48Ser) rs200012872 0.00001
NM_032977.4(CASP10):c.1453G>A (p.Asp485Asn) rs758187673 0.00001
NM_032977.4(CASP10):c.146A>G (p.Asn49Ser) rs559658034 0.00001
NM_032977.4(CASP10):c.1558C>T (p.Leu520Phe) rs571838418 0.00001
NM_032977.4(CASP10):c.1567T>C (p.Ter523Gln) rs1465277007 0.00001
NM_032977.4(CASP10):c.208C>G (p.Leu70Val) rs1944402071 0.00001
NM_032977.4(CASP10):c.226C>A (p.Pro76Thr) rs146696981 0.00001
NM_032977.4(CASP10):c.234C>T (p.Phe78=) rs1332559719 0.00001
NM_032977.4(CASP10):c.258A>G (p.Ile86Met) rs1324259879 0.00001
NM_032977.4(CASP10):c.311G>A (p.Arg104Gln) rs748398291 0.00001
NM_032977.4(CASP10):c.332G>C (p.Arg111Thr) rs199600895 0.00001
NM_032977.4(CASP10):c.335T>C (p.Val112Ala) rs770155279 0.00001
NM_032977.4(CASP10):c.360C>T (p.Tyr120=) rs776326308 0.00001
NM_032977.4(CASP10):c.390C>T (p.Asn130=) rs1559293756 0.00001
NM_032977.4(CASP10):c.396G>C (p.Lys132Asn) rs1944465097 0.00001
NM_032977.4(CASP10):c.422C>T (p.Ser141Leu) rs780552445 0.00001
NM_032977.4(CASP10):c.423G>T (p.Ser141=) rs768931544 0.00001
NM_032977.4(CASP10):c.442-14T>G rs755555484 0.00001
NM_032977.4(CASP10):c.442-20C>G rs1186617226 0.00001
NM_032977.4(CASP10):c.478G>A (p.Gly160Ser) rs781000749 0.00001
NM_032977.4(CASP10):c.491A>C (p.Glu164Ala) rs1165543405 0.00001
NM_032977.4(CASP10):c.49A>G (p.Lys17Glu) rs552561721 0.00001
NM_032977.4(CASP10):c.502A>G (p.Thr168Ala) rs371962581 0.00001
NM_032977.4(CASP10):c.516C>G (p.Asp172Glu) rs1465733324 0.00001
NM_032977.4(CASP10):c.530T>G (p.Val177Gly) rs767659964 0.00001
NM_032977.4(CASP10):c.598C>T (p.Pro200Ser) rs752039240 0.00001
NM_032977.4(CASP10):c.616G>A (p.Glu206Lys) rs972443043 0.00001
NM_032977.4(CASP10):c.621G>A (p.Ser207=) rs776912309 0.00001
NM_032977.4(CASP10):c.664A>G (p.Thr222Ala) rs763551197 0.00001
NM_032977.4(CASP10):c.721+1G>A rs1476766456 0.00001
NM_032977.4(CASP10):c.722-15T>C rs111916535 0.00001
NM_032977.4(CASP10):c.722-17A>G rs984268760 0.00001
NM_032977.4(CASP10):c.733A>C (p.Thr245Pro) rs1312829146 0.00001
NM_032977.4(CASP10):c.763G>A (p.Gly255Arg) rs746191869 0.00001
NM_032977.4(CASP10):c.775G>A (p.Ala259Thr) rs1200629345 0.00001
NM_032977.4(CASP10):c.776C>T (p.Ala259Val) rs747722985 0.00001
NM_032977.4(CASP10):c.783_784del (p.Asn262fs) rs1451261167 0.00001
NM_032977.4(CASP10):c.786C>G (p.Asn262Lys) rs368675766 0.00001
NM_032977.4(CASP10):c.802A>C (p.Thr268Pro) rs770921459 0.00001
NM_032977.4(CASP10):c.817G>A (p.Ala273Thr) rs1335254762 0.00001
NM_032977.4(CASP10):c.81T>C (p.Ile27=) rs751728796 0.00001
NM_032977.4(CASP10):c.838C>T (p.Arg280Trp) rs1351292534 0.00001
NM_032977.4(CASP10):c.887C>T (p.Ser296Phe) rs146654699 0.00001
NM_032977.4(CASP10):c.894G>A (p.Lys298=) rs775531682 0.00001
NM_032977.4(CASP10):c.910C>T (p.His304Tyr) rs748988477 0.00001
NM_032977.4(CASP10):c.923-13T>G rs776612061 0.00001
NM_032977.4(CASP10):c.923-17T>G rs760618594 0.00001
NM_032977.4(CASP10):c.923-18T>G rs773513528 0.00001
NM_032977.4(CASP10):c.94G>A (p.Gly32Arg) rs375838979 0.00001
NM_032977.4(CASP10):c.983C>T (p.Thr328Met) rs200424779 0.00001
NM_032977.4(CASP10):c.984G>A (p.Thr328=) rs965047698 0.00001
NM_032977.4(CASP10):c.997G>A (p.Glu333Lys) rs972778129 0.00001
NM_033629.6(TREX1):c.112G>T (p.Ala38Ser) rs765715997 0.00001
NM_033629.6(TREX1):c.138C>T (p.Ser46=) rs895463771 0.00001
NM_033629.6(TREX1):c.212T>C (p.Val71Ala) rs145208844 0.00001
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767 0.00001
NM_033629.6(TREX1):c.226G>T (p.Ala76Ser) rs986003279 0.00001
NM_033629.6(TREX1):c.23C>T (p.Pro8Leu) rs561454996 0.00001
NM_033629.6(TREX1):c.251T>C (p.Ile84Thr) rs748535974 0.00001
NM_033629.6(TREX1):c.268G>A (p.Ala90Thr) rs1158056849 0.00001
NM_033629.6(TREX1):c.277G>C (p.Ala93Pro) rs2040338083 0.00001
NM_033629.6(TREX1):c.281C>T (p.Ala94Val) rs774538797 0.00001
NM_033629.6(TREX1):c.282G>A (p.Ala94=) rs374854957 0.00001
NM_033629.6(TREX1):c.284A>G (p.His95Arg) rs368972486 0.00001
NM_033629.6(TREX1):c.289C>A (p.Arg97Ser) rs763817243 0.00001
NM_033629.6(TREX1):c.294A>G (p.Gln98=) rs2040339926 0.00001
NM_033629.6(TREX1):c.299T>C (p.Phe100Ser) rs757909936 0.00001
NM_033629.6(TREX1):c.29C>A (p.Pro10His) rs1460993756 0.00001
NM_033629.6(TREX1):c.308A>T (p.Asn103Ile) rs770158462 0.00001
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) rs760838030 0.00001
NM_033629.6(TREX1):c.347C>T (p.Pro116Leu) rs765151974 0.00001
NM_033629.6(TREX1):c.357G>A (p.Trp119Ter) rs747399274 0.00001
NM_033629.6(TREX1):c.382C>T (p.Arg128Cys) rs199614534 0.00001
NM_033629.6(TREX1):c.394C>A (p.Pro132Thr) rs200510205 0.00001
NM_033629.6(TREX1):c.417T>C (p.Ala139=) rs561010257 0.00001
NM_033629.6(TREX1):c.418A>G (p.Met140Val) rs761526437 0.00001
NM_033629.6(TREX1):c.427C>G (p.Leu143Val) rs576033124 0.00001
NM_033629.6(TREX1):c.429C>T (p.Leu143=) rs1300401892 0.00001
NM_033629.6(TREX1):c.459G>A (p.Val153=) rs901216260 0.00001
NM_033629.6(TREX1):c.474G>A (p.Ala158=) rs373876183 0.00001
NM_033629.6(TREX1):c.477G>A (p.Leu159=) rs376018168 0.00001
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) rs78218009 0.00001
NM_033629.6(TREX1):c.500G>A (p.Ser167Asn) rs200309956 0.00001
NM_033629.6(TREX1):c.501C>T (p.Ser167=) rs149789575 0.00001
NM_033629.6(TREX1):c.520A>G (p.Arg174Gly) rs759481016 0.00001
NM_033629.6(TREX1):c.522G>A (p.Arg174=) rs1310282311 0.00001
NM_033629.6(TREX1):c.530A>G (p.Tyr177Cys) rs1479030388 0.00001
NM_033629.6(TREX1):c.543C>T (p.Ser181=) rs948439253 0.00001
NM_033629.6(TREX1):c.582G>A (p.Ser194=) rs747560892 0.00001
NM_033629.6(TREX1):c.586A>G (p.Thr196Ala) rs1176739791 0.00001
NM_033629.6(TREX1):c.587C>T (p.Thr196Met) rs754998766 0.00001
NM_033629.6(TREX1):c.588G>A (p.Thr196=) rs781221615 0.00001
NM_033629.6(TREX1):c.590C>T (p.Ala197Val) rs201954133 0.00001
NM_033629.6(TREX1):c.5G>T (p.Gly2Val) rs199519507 0.00001
NM_033629.6(TREX1):c.605T>G (p.Leu202Arg) rs769993269 0.00001
NM_033629.6(TREX1):c.61G>A (p.Ala21Thr) rs1356174769 0.00001
NM_033629.6(TREX1):c.627G>A (p.Gln209=) rs748970378 0.00001
NM_033629.6(TREX1):c.647T>C (p.Leu216Pro) rs142082672 0.00001
NM_033629.6(TREX1):c.690G>A (p.Arg230=) rs55691060 0.00001
NM_033629.6(TREX1):c.695T>G (p.Met232Arg) rs373284647 0.00001
NM_033629.6(TREX1):c.740C>T (p.Ala247Val) rs201503409 0.00001
NM_033629.6(TREX1):c.767del (p.Thr256fs) rs1302856977 0.00001
NM_033629.6(TREX1):c.782G>A (p.Ser261Asn) rs1225568750 0.00001
NM_033629.6(TREX1):c.784C>T (p.Pro262Ser) rs867148059 0.00001
NM_033629.6(TREX1):c.80C>T (p.Ser27Phe) rs11548268 0.00001
NM_033629.6(TREX1):c.81C>G (p.Ser27=) rs1308074815 0.00001
NM_033629.6(TREX1):c.828G>A (p.Val276=) rs149654159 0.00001
NM_033629.6(TREX1):c.833A>T (p.Asp278Val) rs2040383072 0.00001
NM_033629.6(TREX1):c.846A>G (p.Leu282=) rs374232562 0.00001
NM_033629.6(TREX1):c.85C>T (p.Pro29Ser) rs1407557314 0.00001
NM_033629.6(TREX1):c.877C>G (p.Leu293Val) rs759839987 0.00001
NM_033629.6(TREX1):c.879G>C (p.Leu293=) rs368090024 0.00001
NM_033629.6(TREX1):c.885C>T (p.Ala295=) rs775937744 0.00001
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro) rs76224909 0.00001
NM_033629.6(TREX1):c.935C>G (p.Pro312Arg) rs772805032 0.00001
NM_033629.6(TREX1):c.95C>T (p.Thr32Met) rs755138065 0.00001
NM_033629.6(TREX1):c.9G>A (p.Ser3=) rs762687506 0.00001
NC_000001.10:g.(?_171605065)_(173962123_?)del
NC_000001.10:g.(?_171605065)_(173962123_?)dup
NC_000001.11:g.(?_172658358)_(172666036_?)dup
NC_000001.11:g.(?_172658358)_(172909884_?)dup
NC_000002.11:g.(?_189839216)_(192012929_?)dup
NC_000002.11:g.(?_191835429)_(192012929_?)del
NC_000002.11:g.(?_191843562)_(191845415_?)del
NC_000002.11:g.(?_201943606)_(204824322_?)del
NC_000002.11:g.(?_201943606)_(204824322_?)dup
NC_000002.11:g.(?_202050501)_(202052542_?)dup
NC_000002.11:g.(?_202050501)_(202057862_?)del
NC_000002.11:g.(?_202050501)_(202082464_?)dup
NC_000002.11:g.(?_202052409)_(202052542_?)del
NC_000002.11:g.(?_202060545)_(202060691_?)del
NC_000002.11:g.(?_202068433)_(202068509_?)del
NC_000002.11:g.(?_202070585)_(202070716_?)del
NC_000002.11:g.(?_202071408)_(202074178_?)del
NC_000002.11:g.(?_202131210)_(202134348_?)del
NC_000002.11:g.(?_202131210)_(202137519_?)dup
NC_000002.11:g.(?_202131210)_(202151317_?)del
NC_000002.11:g.(?_204731519)_(204732794_?)del
NC_000002.11:g.(?_204732666)_(204737535_?)dup
NC_000002.11:g.(?_204734049)_(204737535_?)del
NC_000002.12:g.(?_190970683)_(190970737_?)dup
NC_000002.12:g.(?_201185758)_(201229103_?)dup
NC_000002.12:g.(?_201192964)_(201193139_?)dup
NC_000002.12:g.(?_201203710)_(201209582_?)del
NC_000002.12:g.(?_201228913)_(201286614_?)del
NC_000002.12:g.(?_201276807)_(201276988_?)dup
NC_000002.12:g.(?_203444868)_(203957883_?)del
NC_000002.12:g.(?_203866796)_(203959619_?)del
NC_000002.12:g.203870586_203870594del rs1559591640
NC_000003.11:g.(?_48507870)_(50340407_?)del
NC_000003.11:g.(?_53125899)_(53215768_?)dup
NC_000003.11:g.(?_53125899)_(53226302_?)del
NC_000010.10:g.(?_90332640)_(91222335_?)dup
NC_000010.10:g.(?_90749963)_(90750683_?)del
NC_000010.10:g.(?_90762766)_(90762971_?)del
NC_000010.10:g.(?_90767437)_(90770592_?)del
NC_000010.11:g.(?_88770845)_(89328078_?)del
NC_000010.11:g.(?_88989499)_(89247668_?)del
NC_000016.9:g.(?_50731155)_(51631253_?)dup
NC_000021.8:g.(?_45629566)_(45711113_?)dup
NC_000021.8:g.(?_45629566)_(46330717_?)dup
NC_000021.8:g.(?_45705869)_(45711113_?)del
NC_000021.8:g.(?_45705870)_(45707494_?)del
NC_000021.8:g.(?_45705870)_(45711113_?)del
NC_000021.8:g.(?_45705880)_(45707026_?)del
NC_000021.8:g.(?_45705880)_(45711103_?)del
NC_000021.8:g.(?_45709520)_(45759077_?)dup
NC_000021.8:g.(?_45709640)_(45714378_?)del
NC_000021.8:g.(?_45713652)_(45717630_?)dup
NC_000021.8:g.(?_45716246)_(45717610_?)del
NC_000021.8:g.(?_45717519)_(45717610_?)dup
NC_000021.9:g.(?_44285987)_(44297747_?)del
NC_000021.9:g.(?_44297636)_(44297747_?)dup
NC_000021.9:g.44288345_44288346del
NC_000023.10:g.(?_46466387)_(50659607_?)del
NC_000023.10:g.(?_48932462)_(49840657_?)dup
NM_000043.6(FAS):c.1002G>T (p.Leu334Phe) rs1848690736
NM_000043.6(FAS):c.1008G>C (p.Ter336Tyr)
NM_000043.6(FAS):c.102A>G (p.Gly34=) rs1554849878
NM_000043.6(FAS):c.103T>A (p.Leu35Met)
NM_000043.6(FAS):c.104T>G (p.Leu35Trp) rs2133471258
NM_000043.6(FAS):c.110T>A (p.Leu37Ter) rs1564686301
NM_000043.6(FAS):c.115A>T (p.Lys39Ter)
NM_000043.6(FAS):c.136A>C (p.Thr46Pro)
NM_000043.6(FAS):c.140A>G (p.Gln47Arg)
NM_000043.6(FAS):c.144C>T (p.Asn48=)
NM_000043.6(FAS):c.145T>C (p.Leu49=)
NM_000043.6(FAS):c.155_169dup (p.Gly56_Gln57insLeuHisHisAspGly)
NM_000043.6(FAS):c.15G>C (p.Trp5Cys)
NM_000043.6(FAS):c.161A>G (p.His54Arg) rs759152311
NM_000043.6(FAS):c.162T>C (p.His54=)
NM_000043.6(FAS):c.174C>T (p.Phe58=)
NM_000043.6(FAS):c.175T>A (p.Cys59Ser)
NM_000043.6(FAS):c.179A>G (p.His60Arg) rs753767914
NM_000043.6(FAS):c.182_183insTTAT (p.Lys61fs) rs2133472134
NM_000043.6(FAS):c.185C>G (p.Pro62Arg) rs757780022
NM_000043.6(FAS):c.187T>C (p.Cys63Arg)
NM_000043.6(FAS):c.195A>G (p.Pro65=)
NM_000043.6(FAS):c.196+17A>G
NM_000043.6(FAS):c.196+2dup
NM_000043.6(FAS):c.196+5G>T
NM_000043.6(FAS):c.197-11T>A rs187793393
NM_000043.6(FAS):c.197-11T>C rs187793393
NM_000043.6(FAS):c.197-18C>G rs765687911
NM_000043.6(FAS):c.197-1G>A rs2133502090
NM_000043.6(FAS):c.197-8T>C rs2133501996
NM_000043.6(FAS):c.204G>T (p.Arg68Ser)
NM_000043.6(FAS):c.20T>C (p.Leu7Pro) rs2133384423
NM_000043.6(FAS):c.218G>C (p.Cys73Ser) rs2133502355
NM_000043.6(FAS):c.226A>C (p.Asn76His)
NM_000043.6(FAS):c.230G>A (p.Gly77Glu)
NM_000043.6(FAS):c.249G>A (p.Val83=)
NM_000043.6(FAS):c.259G>A (p.Glu87Lys) rs2133503091
NM_000043.6(FAS):c.259G>T (p.Glu87Ter) rs2133503091
NM_000043.6(FAS):c.264G>A (p.Gly88=) rs2133503215
NM_000043.6(FAS):c.279C>A (p.Asp93Glu)
NM_000043.6(FAS):c.27T>C (p.Pro9=)
NM_000043.6(FAS):c.287A>G (p.His96Arg) rs1589475804
NM_000043.6(FAS):c.30+14_30+18dup
NM_000043.6(FAS):c.30+19G>A rs202165529
NM_000043.6(FAS):c.30+19G>T rs202165529
NM_000043.6(FAS):c.30+20G>A
NM_000043.6(FAS):c.30+2T>C
NM_000043.6(FAS):c.31-13T>A
NM_000043.6(FAS):c.31-8T>G rs1589464585
NM_000043.6(FAS):c.310T>C (p.Cys104Arg)
NM_000043.6(FAS):c.312dup (p.Arg105Ter) rs2133503921
NM_000043.6(FAS):c.323A>G (p.Asp108Gly) rs1848315820
NM_000043.6(FAS):c.324T>C (p.Asp108=) rs1848316008
NM_000043.6(FAS):c.32T>C (p.Val11Ala)
NM_000043.6(FAS):c.332A>G (p.His111Arg) rs2133504109
NM_000043.6(FAS):c.333T>C (p.His111=)
NM_000043.6(FAS):c.334+11T>C
NM_000043.6(FAS):c.334+2dup rs606231362
NM_000043.6(FAS):c.335-10G>T rs377251325
NM_000043.6(FAS):c.335-13A>T
NM_000043.6(FAS):c.335-15A>C
NM_000043.6(FAS):c.335-2A>G
NM_000043.6(FAS):c.335-4C>G
NM_000043.6(FAS):c.33T>C (p.Val11=)
NM_000043.6(FAS):c.340G>A (p.Glu114Lys)
NM_000043.6(FAS):c.341A>T (p.Glu114Val)
NM_000043.6(FAS):c.345G>A (p.Val115=) rs2133513698
NM_000043.6(FAS):c.356del (p.Cys119fs)
NM_000043.6(FAS):c.383G>A (p.Arg128Lys) rs2133514262
NM_000043.6(FAS):c.386G>A (p.Cys129Tyr)
NM_000043.6(FAS):c.38C>A (p.Thr13Lys)
NM_000043.6(FAS):c.38del (p.Thr13fs) rs1842954041
NM_000043.6(FAS):c.391C>A (p.Pro131Thr)
NM_000043.6(FAS):c.396C>T (p.Asn132=)
NM_000043.6(FAS):c.397T>C (p.Phe133Leu)
NM_000043.6(FAS):c.398T>A (p.Phe133Tyr)
NM_000043.6(FAS):c.39G>A (p.Thr13=) rs377196867
NM_000043.6(FAS):c.403del (p.Cys135fs) rs1564692984
NM_000043.6(FAS):c.404G>A (p.Cys135Tyr)
NM_000043.6(FAS):c.404G>T (p.Cys135Phe) rs1404280764
NM_000043.6(FAS):c.412A>G (p.Thr138Ala)
NM_000043.6(FAS):c.415G>A (p.Val139Ile)
NM_000043.6(FAS):c.418T>G (p.Cys140Gly)
NM_000043.6(FAS):c.430G>A (p.Asp144Asn) rs753670814
NM_000043.6(FAS):c.430G>T (p.Asp144Tyr)
NM_000043.6(FAS):c.432C>T (p.Asp144=) rs574338716
NM_000043.6(FAS):c.442A>T (p.Lys148Ter) rs2133515017
NM_000043.6(FAS):c.443+15T>G
NM_000043.6(FAS):c.443+20T>C
NM_000043.6(FAS):c.444-12T>C
NM_000043.6(FAS):c.444-5del rs751798922
NM_000043.6(FAS):c.444-5dup rs751798922
NM_000043.6(FAS):c.444-9T>C
NM_000043.6(FAS):c.46_47del (p.Val15_Ala16insTer) rs1848019699
NM_000043.6(FAS):c.473C>T (p.Thr158Ile)
NM_000043.6(FAS):c.476_489del (p.Leu159fs)
NM_000043.6(FAS):c.477C>G (p.Leu159=)
NM_000043.6(FAS):c.478A>G (p.Thr160Ala) rs1589482084
NM_000043.6(FAS):c.480C>T (p.Thr160=) rs1589482110
NM_000043.6(FAS):c.485A>T (p.Asn162Ile) rs993150748
NM_000043.6(FAS):c.489C>A (p.Thr163=)
NM_000043.6(FAS):c.490A>G (p.Lys164Glu)
NM_000043.6(FAS):c.494G>A (p.Cys165Tyr)
NM_000043.6(FAS):c.498del (p.Glu167fs)
NM_000043.6(FAS):c.4C>T (p.Leu2=)
NM_000043.6(FAS):c.505+14T>C
NM_000043.6(FAS):c.505+16C>A
NM_000043.6(FAS):c.505+1G>C rs2133527951
NM_000043.6(FAS):c.506-11C>T
NM_000043.6(FAS):c.506-16A>G rs2133529359
NM_000043.6(FAS):c.506-1G>C
NM_000043.6(FAS):c.506-6C>G rs1589482683
NM_000043.6(FAS):c.506G>T (p.Gly169Val) rs1848488731
NM_000043.6(FAS):c.528G>A (p.Trp176Ter) rs866771343
NM_000043.6(FAS):c.529C>T (p.Leu177Phe)
NM_000043.6(FAS):c.530T>G (p.Leu177Arg) rs1848490280
NM_000043.6(FAS):c.536T>G (p.Leu179Arg) rs1554851718
NM_000043.6(FAS):c.538C>T (p.Leu180Phe)
NM_000043.6(FAS):c.554C>T (p.Pro185Leu)
NM_000043.6(FAS):c.558A>G (p.Leu186=)
NM_000043.6(FAS):c.55T>C (p.Ser19Pro)
NM_000043.6(FAS):c.563_566del (p.Val188fs) rs1207744817
NM_000043.6(FAS):c.565_566insACAAGA (p.Trp189delinsTyrLysArg) rs2133530271
NM_000043.6(FAS):c.566_568delinsACAAGAATT (p.Trp189_Val190delinsTyrLysAsnLeu) rs1564695523
NM_000043.6(FAS):c.568+5G>C
NM_000043.6(FAS):c.569-1G>T
NM_000043.6(FAS):c.56C>T (p.Ser19Leu)
NM_000043.6(FAS):c.575G>A (p.Arg192Lys)
NM_000043.6(FAS):c.588G>A (p.Gln196=)
NM_000043.6(FAS):c.617del (p.Asn206fs) rs1848558128
NM_000043.6(FAS):c.634T>A (p.Ser212Thr) rs1848559695
NM_000043.6(FAS):c.635C>T (p.Ser212Phe)
NM_000043.6(FAS):c.641_642delinsAC (p.Thr214Asn) rs1848560803
NM_000043.6(FAS):c.641_642delinsTC (p.Thr214Ile) rs1848560803
NM_000043.6(FAS):c.642T>G (p.Thr214=)
NM_000043.6(FAS):c.644T>A (p.Leu215Ter) rs2133539468
NM_000043.6(FAS):c.651+1G>A rs1564696849
NM_000043.6(FAS):c.651+1G>T rs1564696849
NM_000043.6(FAS):c.651+2T>C rs267607122
NM_000043.6(FAS):c.651+5G>T
NM_000043.6(FAS):c.652-1G>A rs1589488463
NM_000043.6(FAS):c.652-9G>T rs1848622815
NM_000043.6(FAS):c.652G>A (p.Glu218Lys)
NM_000043.6(FAS):c.657del (p.Val220fs) rs2133547404
NM_000043.6(FAS):c.658G>A (p.Val220Met) rs755437276
NM_000043.6(FAS):c.66T>C (p.Ser22=)
NM_000043.6(FAS):c.673T>A (p.Ser225Thr) rs891207457
NM_000043.6(FAS):c.676+13T>A
NM_000043.6(FAS):c.676+1G>A rs1589488640
NM_000043.6(FAS):c.676+1G>C
NM_000043.6(FAS):c.676+1G>T rs1589488640
NM_000043.6(FAS):c.676+3A>G rs1848626772
NM_000043.6(FAS):c.677-16A>G
NM_000043.6(FAS):c.677-9A>G
NM_000043.6(FAS):c.67G>A (p.Val23Ile)
NM_000043.6(FAS):c.680T>C (p.Val227Ala)
NM_000043.6(FAS):c.684C>T (p.Asp228=) rs1848665121
NM_000043.6(FAS):c.685_686del (p.Leu229fs) rs2119445087
NM_000043.6(FAS):c.695A>G (p.Tyr232Cys) rs121913079
NM_000043.6(FAS):c.704C>T (p.Thr235Ile) rs2119445212
NM_000043.6(FAS):c.704_706del (p.Thr235del) rs1848666809
NM_000043.6(FAS):c.707_708insG (p.Ile236fs) rs2119445224
NM_000043.6(FAS):c.711T>C (p.Ala237=)
NM_000043.6(FAS):c.715G>T (p.Val239Phe)
NM_000043.6(FAS):c.719T>A (p.Met240Lys) rs2119445378
NM_000043.6(FAS):c.719T>G (p.Met240Arg)
NM_000043.6(FAS):c.722C>A (p.Thr241Lys)
NM_000043.6(FAS):c.734T>G (p.Val245Gly) rs200778245
NM_000043.6(FAS):c.746T>C (p.Val249Ala)
NM_000043.6(FAS):c.748C>T (p.Arg250Ter) rs778993919
NM_000043.6(FAS):c.749G>A (p.Arg250Gln) rs121913080
NM_000043.6(FAS):c.749G>C (p.Arg250Pro) rs121913080
NM_000043.6(FAS):c.753G>A (p.Lys251=)
NM_000043.6(FAS):c.755del (p.Asn252fs) rs1564699214
NM_000043.6(FAS):c.758G>T (p.Gly253Val) rs1848671126
NM_000043.6(FAS):c.760G>T (p.Val254Phe) rs2119445796
NM_000043.6(FAS):c.761T>C (p.Val254Ala) rs1848671288
NM_000043.6(FAS):c.767A>G (p.Glu256Gly) rs2119445897
NM_000043.6(FAS):c.768A>G (p.Glu256=)
NM_000043.6(FAS):c.772A>G (p.Lys258Glu)
NM_000043.6(FAS):c.775del (p.Lys258_Ile259insTer)
NM_000043.6(FAS):c.776T>C (p.Ile259Thr) rs1848675068
NM_000043.6(FAS):c.778G>A (p.Asp260Asn) rs121913086
NM_000043.6(FAS):c.779A>G (p.Asp260Gly)
NM_000043.6(FAS):c.779A>T (p.Asp260Val) rs28929498
NM_000043.6(FAS):c.77A>G (p.Gln26Arg) rs2133470846
NM_000043.6(FAS):c.781G>A (p.Glu261Lys)
NM_000043.6(FAS):c.792T>G (p.Asn264Lys) rs2119446116
NM_000043.6(FAS):c.796A>C (p.Asn266His)
NM_000043.6(FAS):c.801C>T (p.Val267=)
NM_000043.6(FAS):c.809C>T (p.Thr270Ile) rs121913081
NM_000043.6(FAS):c.814G>A (p.Glu272Lys)
NM_000043.6(FAS):c.814G>C (p.Glu272Gln)
NM_000043.6(FAS):c.816del (p.Glu272fs) rs2119446366
NM_000043.6(FAS):c.817C>A (p.Gln273Lys) rs121913077
NM_000043.6(FAS):c.817C>T (p.Gln273Ter) rs121913077
NM_000043.6(FAS):c.818A>G (p.Gln273Arg) rs1848677745
NM_000043.6(FAS):c.820A>G (p.Lys274Glu)
NM_000043.6(FAS):c.823G>A (p.Val275Ile)
NM_000043.6(FAS):c.828A>C (p.Gln276His)
NM_000043.6(FAS):c.833T>A (p.Leu278His)
NM_000043.6(FAS):c.836G>A (p.Arg279His)
NM_000043.6(FAS):c.841T>A (p.Trp281Arg)
NM_000043.6(FAS):c.841T>G (p.Trp281Gly)
NM_000043.6(FAS):c.857G>A (p.Gly286Glu)
NM_000043.6(FAS):c.862A>G (p.Lys288Glu)
NM_000043.6(FAS):c.866A>G (p.Glu289Gly)
NM_000043.6(FAS):c.867A>G (p.Glu289=) rs377337130
NM_000043.6(FAS):c.869C>A (p.Ala290Glu) rs760993872
NM_000043.6(FAS):c.869C>T (p.Ala290Val)
NM_000043.6(FAS):c.870G>A (p.Ala290=)
NM_000043.6(FAS):c.874G>C (p.Asp292His)
NM_000043.6(FAS):c.878C>T (p.Thr293Ile) rs2119447206
NM_000043.6(FAS):c.879_880del (p.Leu294fs) rs886039524
NM_000043.6(FAS):c.881del (p.Thr293_Leu294insTer)
NM_000043.6(FAS):c.900A>C (p.Lys300Asn)
NM_000043.6(FAS):c.901G>A (p.Ala301Thr) rs1449711911
NM_000043.6(FAS):c.905A>G (p.Asn302Ser)
NM_000043.6(FAS):c.908T>G (p.Leu303Arg)
NM_000043.6(FAS):c.909T>C (p.Leu303=) rs967060461
NM_000043.6(FAS):c.910T>C (p.Cys304Arg)
NM_000043.6(FAS):c.913A>G (p.Thr305Ala)
NM_000043.6(FAS):c.915T>G (p.Thr305=)
NM_000043.6(FAS):c.929T>G (p.Ile310Ser) rs2119448150
NM_000043.6(FAS):c.953T>C (p.Ile318Thr) rs1848687177
NM_000043.6(FAS):c.963C>G (p.Asp321Glu)
NM_000043.6(FAS):c.976A>G (p.Asn326Asp) rs770595930
NM_000043.6(FAS):c.976A>T (p.Asn326Tyr)
NM_000043.6(FAS):c.978C>T (p.Asn326=)
NM_000043.6(FAS):c.97A>C (p.Lys33Gln) rs55766344
NM_000043.6(FAS):c.993C>A (p.Ile331=) rs1237891648
NM_000383.4(AIRE):c.-17_27del (p.Met1fs) rs2040477031
NM_000383.4(AIRE):c.1001C>A (p.Thr334Asn)
NM_000383.4(AIRE):c.1002C>G (p.Thr334=) rs2146382261
NM_000383.4(AIRE):c.1008G>A (p.Arg336=) rs2146382269
NM_000383.4(AIRE):c.1010G>T (p.Cys337Phe)
NM_000383.4(AIRE):c.1012T>C (p.Ser338Pro)
NM_000383.4(AIRE):c.1017C>G (p.Ser339Arg)
NM_000383.4(AIRE):c.1017C>T (p.Ser339=) rs2040549304
NM_000383.4(AIRE):c.1020C>T (p.Cys340=)
NM_000383.4(AIRE):c.1023G>T (p.Leu341=) rs1352758309
NM_000383.4(AIRE):c.1026G>A (p.Gln342=)
NM_000383.4(AIRE):c.102C>A (p.Asp34Glu)
NM_000383.4(AIRE):c.102C>T (p.Asp34=)
NM_000383.4(AIRE):c.1035C>G (p.Val345=) rs1480626384
NM_000383.4(AIRE):c.1044G>T (p.Val348=)
NM_000383.4(AIRE):c.1045C>T (p.Gln349Ter)
NM_000383.4(AIRE):c.1049C>G (p.Pro350Arg) rs1013117342
NM_000383.4(AIRE):c.1051C>G (p.Arg351Gly) rs149078622
NM_000383.4(AIRE):c.1051C>T (p.Arg351Trp)
NM_000383.4(AIRE):c.1052G>A (p.Arg351Gln)
NM_000383.4(AIRE):c.1054_1068dup (p.Ala352_Arg356dup) rs1481102287
NM_000383.4(AIRE):c.1060G>T (p.Glu354Ter)
NM_000383.4(AIRE):c.1062G>A (p.Glu354=) rs867985822
NM_000383.4(AIRE):c.1064C>T (p.Pro355Leu)
NM_000383.4(AIRE):c.1065_1079del (p.Arg356_Pro360del) rs1555872876
NM_000383.4(AIRE):c.1066C>A (p.Arg356=)
NM_000383.4(AIRE):c.1066del (p.Arg356fs)
NM_000383.4(AIRE):c.1066dup (p.Arg356fs) rs1555872879
NM_000383.4(AIRE):c.1071C>T (p.Pro357=)
NM_000383.4(AIRE):c.1072C>T (p.Gln358Ter)
NM_000383.4(AIRE):c.107del (p.Asp36fs)
NM_000383.4(AIRE):c.1083C>G (p.Pro361=) rs201010030
NM_000383.4(AIRE):c.1084G>A (p.Val362Met) rs763954225
NM_000383.4(AIRE):c.1084G>T (p.Val362Leu) rs763954225
NM_000383.4(AIRE):c.1084del (p.Val362fs) rs1057517254
NM_000383.4(AIRE):c.1086G>A (p.Val362=)
NM_000383.4(AIRE):c.1089G>A (p.Glu363=) rs1317375627
NM_000383.4(AIRE):c.1089G>T (p.Glu363Asp)
NM_000383.4(AIRE):c.108C>G (p.Asp36Glu)
NM_000383.4(AIRE):c.1091C>A (p.Thr364Asn) rs757362732
NM_000383.4(AIRE):c.1091C>G (p.Thr364Ser)
NM_000383.4(AIRE):c.1091C>T (p.Thr364Ile) rs757362732
NM_000383.4(AIRE):c.1092C>G (p.Thr364=) rs1367419200
NM_000383.4(AIRE):c.1092C>T (p.Thr364=)
NM_000383.4(AIRE):c.1094_1095delinsTC (p.Pro365Leu)
NM_000383.4(AIRE):c.1095+10C>A rs372932833
NM_000383.4(AIRE):c.1095+16del
NM_000383.4(AIRE):c.1095+18C>T
NM_000383.4(AIRE):c.1095+19C>T
NM_000383.4(AIRE):c.1095+1G>C
NM_000383.4(AIRE):c.1095+23_1095+64del rs1037154559
NM_000383.4(AIRE):c.1095+23_1095+64dup
NM_000383.4(AIRE):c.1095+4T>G
NM_000383.4(AIRE):c.1095+7C>A rs2146382492
NM_000383.4(AIRE):c.1095G>A (p.Pro365=) rs750688330
NM_000383.4(AIRE):c.1096-10T>C rs2146383145
NM_000383.4(AIRE):c.1096-12C>G
NM_000383.4(AIRE):c.1096-14C>T
NM_000383.4(AIRE):c.1096-20T>C
NM_000383.4(AIRE):c.1096-9G>T
NM_000383.4(AIRE):c.1100C>T (p.Pro367Leu)
NM_000383.4(AIRE):c.1101C>T (p.Pro367=)
NM_000383.4(AIRE):c.1102C>G (p.Pro368Ala) rs768381413
NM_000383.4(AIRE):c.1103dup (p.Leu370fs) rs387906293
NM_000383.4(AIRE):c.1111A>C (p.Arg371=) rs2146383235
NM_000383.4(AIRE):c.1119G>A (p.Ala373=) rs765586915
NM_000383.4(AIRE):c.1121G>T (p.Gly374Val)
NM_000383.4(AIRE):c.1122A>C (p.Gly374=)
NM_000383.4(AIRE):c.1124A>G (p.Glu375Gly)
NM_000383.4(AIRE):c.1125G>A (p.Glu375=) rs1601969062
NM_000383.4(AIRE):c.1128G>C (p.Glu376Asp)
NM_000383.4(AIRE):c.1136G>A (p.Gly379Asp)
NM_000383.4(AIRE):c.1137T>C (p.Gly379=)
NM_000383.4(AIRE):c.1143_1144del (p.Glu383fs) rs746933095
NM_000383.4(AIRE):c.1146G>C (p.Gly382=) rs2146383342
NM_000383.4(AIRE):c.1149A>G (p.Glu383=) rs779589936
NM_000383.4(AIRE):c.114C>A (p.Val38=) rs1192858868
NM_000383.4(AIRE):c.1151C>T (p.Pro384Leu) rs1469479088
NM_000383.4(AIRE):c.1152C>A (p.Pro384=) rs2146383355
NM_000383.4(AIRE):c.1152C>T (p.Pro384=)
NM_000383.4(AIRE):c.1153C>T (p.Leu385=) rs748929295
NM_000383.4(AIRE):c.1155A>G (p.Leu385=) rs1391807242
NM_000383.4(AIRE):c.1158C>A (p.Ala386=)
NM_000383.4(AIRE):c.1158C>G (p.Ala386=) rs199555518
NM_000383.4(AIRE):c.1159G>A (p.Gly387Ser)
NM_000383.4(AIRE):c.1167C>T (p.Asp389=)
NM_000383.4(AIRE):c.1175T>C (p.Leu392Pro)
NM_000383.4(AIRE):c.1179C>G (p.Val393=) rs752897977
NM_000383.4(AIRE):c.117C>G (p.Pro39=) rs1033297636
NM_000383.4(AIRE):c.1181A>G (p.Tyr394Cys) rs763440543
NM_000383.4(AIRE):c.1182C>A (p.Tyr394Ter) rs1482020075
NM_000383.4(AIRE):c.1192_1196dup (p.Pro400fs) rs2146383463
NM_000383.4(AIRE):c.1193del (p.Pro398fs) rs1555872988
NM_000383.4(AIRE):c.1195G>T (p.Ala399Ser)
NM_000383.4(AIRE):c.1196C>A (p.Ala399Asp)
NM_000383.4(AIRE):c.1196_1197delinsAC (p.Ala399Asp) rs2040560125
NM_000383.4(AIRE):c.11A>T (p.Asp4Val) rs2146375006
NM_000383.4(AIRE):c.1202C>G (p.Pro401Arg)
NM_000383.4(AIRE):c.1206T>C (p.Ser402=) rs1327799658
NM_000383.4(AIRE):c.1207G>A (p.Ala403Thr) rs543891914
NM_000383.4(AIRE):c.1214C>A (p.Pro405Gln)
NM_000383.4(AIRE):c.1214del (p.Pro405fs) rs2040560523
NM_000383.4(AIRE):c.1215G>T (p.Pro405=) rs72650676
NM_000383.4(AIRE):c.1218G>A (p.Leu406=)
NM_000383.4(AIRE):c.121G>A (p.Asp41Asn)
NM_000383.4(AIRE):c.1220C>G (p.Pro407Arg) rs2146383548
NM_000383.4(AIRE):c.1224G>A (p.Gly408=)
NM_000383.4(AIRE):c.1225C>T (p.Leu409=) rs1264168197
NM_000383.4(AIRE):c.1227G>A (p.Leu409=) rs762289753
NM_000383.4(AIRE):c.122A>G (p.Asp41Gly)
NM_000383.4(AIRE):c.1230C>T (p.Asp410=) rs2146383558
NM_000383.4(AIRE):c.1233del (p.Ser412fs) rs2146383573
NM_000383.4(AIRE):c.1239C>T (p.Ala413=) rs2146383603
NM_000383.4(AIRE):c.123C>T (p.Asp41=)
NM_000383.4(AIRE):c.1242G>A (p.Leu414=)
NM_000383.4(AIRE):c.1245C>T (p.His415=)
NM_000383.4(AIRE):c.1248C>A (p.Pro416=) rs74162064
NM_000383.4(AIRE):c.1249C>A (p.Leu417Ile) rs1248107084
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000383.4(AIRE):c.1250_1251insTCTCCTCGGCCCTGCACCCCCT (p.Cys419fs) rs2146383561
NM_000383.4(AIRE):c.1252C>T (p.Leu418=)
NM_000383.4(AIRE):c.1256G>A (p.Cys419Tyr) rs756933733
NM_000383.4(AIRE):c.1256G>T (p.Cys419Phe) rs756933733
NM_000383.4(AIRE):c.1259_1260del (p.Val420fs) rs759281545
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.126G>A (p.Lys42=)
NM_000383.4(AIRE):c.1271G>T (p.Gly424Val)
NM_000383.4(AIRE):c.1271del (p.Gly424fs)
NM_000383.4(AIRE):c.1273C>T (p.Gln425Ter) rs1601969308
NM_000383.4(AIRE):c.1278+10G>C
NM_000383.4(AIRE):c.1278+12G>A rs371283816
NM_000383.4(AIRE):c.1278+12G>T
NM_000383.4(AIRE):c.1278+13T>C
NM_000383.4(AIRE):c.1278+16G>A
NM_000383.4(AIRE):c.1278+18G>A
NM_000383.4(AIRE):c.1278+1del rs996389327
NM_000383.4(AIRE):c.1278+5dup rs2146383693
NM_000383.4(AIRE):c.1278+7G>A rs564103678
NM_000383.4(AIRE):c.1278+7G>C
NM_000383.4(AIRE):c.1278+8G>A
NM_000383.4(AIRE):c.1279-12T>G
NM_000383.4(AIRE):c.1279-17G>A
NM_000383.4(AIRE):c.1279-20C>G
NM_000383.4(AIRE):c.1279-2A>G rs1555873087
NM_000383.4(AIRE):c.1279-4A>G
NM_000383.4(AIRE):c.1279-5C>A
NM_000383.4(AIRE):c.1279-9C>T rs371186900
NM_000383.4(AIRE):c.1285G>T (p.Ala429Ser)
NM_000383.4(AIRE):c.1290T>G (p.Pro430=)
NM_000383.4(AIRE):c.1298G>A (p.Arg433His)
NM_000383.4(AIRE):c.1299T>C (p.Arg433=) rs780148497
NM_000383.4(AIRE):c.1299T>G (p.Arg433=)
NM_000383.4(AIRE):c.12C>T (p.Asp4=) rs768696010
NM_000383.4(AIRE):c.1302C>A (p.Cys434Ter)
NM_000383.4(AIRE):c.1302C>G (p.Cys434Trp)
NM_000383.4(AIRE):c.1305G>A (p.Gly435=) rs2146384547
NM_000383.4(AIRE):c.1310G>A (p.Cys437Tyr)
NM_000383.4(AIRE):c.1316_1334del (p.Asp439fs)
NM_000383.4(AIRE):c.1317T>C (p.Asp439=) rs1474485684
NM_000383.4(AIRE):c.1317T>G (p.Asp439Glu)
NM_000383.4(AIRE):c.132+11C>T rs2146375260
NM_000383.4(AIRE):c.132+12G>A
NM_000383.4(AIRE):c.132+12G>C
NM_000383.4(AIRE):c.132+15C>A
NM_000383.4(AIRE):c.132+15C>G
NM_000383.4(AIRE):c.132+15C>T rs780730527
NM_000383.4(AIRE):c.132+16G>C rs1272044102
NM_000383.4(AIRE):c.132+1_132+3delinsCT rs886041293
NM_000383.4(AIRE):c.132+22del
NM_000383.4(AIRE):c.132+2T>C
NM_000383.4(AIRE):c.132+8C>G rs1568926049
NM_000383.4(AIRE):c.132+8C>T
NM_000383.4(AIRE):c.1321A>G (p.Thr441Ala) rs768250058
NM_000383.4(AIRE):c.1323G>C (p.Thr441=)
NM_000383.4(AIRE):c.1327G>C (p.Val443Leu)
NM_000383.4(AIRE):c.1329G>T (p.Val443=) rs370017667
NM_000383.4(AIRE):c.133-14C>A
NM_000383.4(AIRE):c.133-15G>A
NM_000383.4(AIRE):c.133-16T>C
NM_000383.4(AIRE):c.133-18C>T
NM_000383.4(AIRE):c.133-20C>T
NM_000383.4(AIRE):c.133-4G>A
NM_000383.4(AIRE):c.133-6C>T
NM_000383.4(AIRE):c.133-8C>T rs753084849
NM_000383.4(AIRE):c.133-9C>T
NM_000383.4(AIRE):c.1330C>T (p.Leu444=) rs1221626097
NM_000383.4(AIRE):c.1332G>T (p.Leu444=)
NM_000383.4(AIRE):c.1335G>C (p.Arg445=)
NM_000383.4(AIRE):c.1341T>C (p.Thr447=) rs2040573330
NM_000383.4(AIRE):c.1344C>G (p.His448Gln) rs201131119
NM_000383.4(AIRE):c.1350C>A (p.Ala450=)
NM_000383.4(AIRE):c.1351G>A (p.Ala451Thr)
NM_000383.4(AIRE):c.1353T>C (p.Ala451=) rs781502496
NM_000383.4(AIRE):c.1353T>G (p.Ala451=) rs781502496
NM_000383.4(AIRE):c.1354G>A (p.Ala452Thr) rs1480139411
NM_000383.4(AIRE):c.135G>A (p.Glu45=)
NM_000383.4(AIRE):c.1362C>T (p.His454=) rs2146384697
NM_000383.4(AIRE):c.1366C>T (p.Arg456Cys)
NM_000383.4(AIRE):c.1368C>T (p.Arg456=) rs2146384725
NM_000383.4(AIRE):c.1373A>G (p.His458Arg) rs1601969955
NM_000383.4(AIRE):c.1380A>C (p.Pro460=)
NM_000383.4(AIRE):c.1383C>G (p.Ala461=)
NM_000383.4(AIRE):c.1384G>A (p.Gly462Ser)
NM_000383.4(AIRE):c.1384G>C (p.Gly462Arg)
NM_000383.4(AIRE):c.1386C>T (p.Gly462=)
NM_000383.4(AIRE):c.1387A>T (p.Thr463Ser)
NM_000383.4(AIRE):c.1389C>T (p.Thr463=) rs1464240052
NM_000383.4(AIRE):c.1391C>T (p.Ser464Phe) rs559428418
NM_000383.4(AIRE):c.1392C>G (p.Ser464=) rs759575621
NM_000383.4(AIRE):c.1393C>T (p.Arg465Trp)
NM_000383.4(AIRE):c.1394G>C (p.Arg465Pro)
NM_000383.4(AIRE):c.1395G>A (p.Arg465=)
NM_000383.4(AIRE):c.1396C>T (p.Pro466Ser) rs1411629170
NM_000383.4(AIRE):c.1398C>A (p.Pro466=)
NM_000383.4(AIRE):c.1399G>A (p.Gly467Arg) rs202018301
NM_000383.4(AIRE):c.1399G>C (p.Gly467Arg) rs202018301
NM_000383.4(AIRE):c.13G>A (p.Ala5Thr)
NM_000383.4(AIRE):c.13_14delinsTT (p.Ala5Leu) rs2146375021
NM_000383.4(AIRE):c.1400+10C>A rs372277949
NM_000383.4(AIRE):c.1400+11G>A
NM_000383.4(AIRE):c.1400+12T>C rs563869880
NM_000383.4(AIRE):c.1400+15T>A
NM_000383.4(AIRE):c.1400+16C>T
NM_000383.4(AIRE):c.1400+17G>T
NM_000383.4(AIRE):c.1400+19C>A
NM_000383.4(AIRE):c.1400+1G>A rs1469386000
NM_000383.4(AIRE):c.1400+20G>A
NM_000383.4(AIRE):c.1400+2T>C
NM_000383.4(AIRE):c.1400+6T>A
NM_000383.4(AIRE):c.1400+9G>A rs2146384820
NM_000383.4(AIRE):c.1400G>C (p.Gly467Ala)
NM_000383.4(AIRE):c.1401-10T>G
NM_000383.4(AIRE):c.1401-16T>G
NM_000383.4(AIRE):c.1401-18C>T
NM_000383.4(AIRE):c.1401-19C>A
NM_000383.4(AIRE):c.1401-1G>A
NM_000383.4(AIRE):c.1401-4G>A rs2146385724
NM_000383.4(AIRE):c.1401-5T>C rs1206047355
NM_000383.4(AIRE):c.1401-5T>G
NM_000383.4(AIRE):c.1401-8T>C
NM_000383.4(AIRE):c.1401-9C>G
NM_000383.4(AIRE):c.1401G>T (p.Gly467=)
NM_000383.4(AIRE):c.1404G>A (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1404G>C (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1404G>T (p.Thr468=)
NM_000383.4(AIRE):c.1408C>T (p.Leu470=)
NM_000383.4(AIRE):c.1409T>C (p.Leu470Pro)
NM_000383.4(AIRE):c.1412G>A (p.Arg471His)
NM_000383.4(AIRE):c.1412del (p.Arg471fs)
NM_000383.4(AIRE):c.1415G>A (p.Cys472Tyr)
NM_000383.4(AIRE):c.1417A>C (p.Arg473=) rs2146385780
NM_000383.4(AIRE):c.1418G>C (p.Arg473Thr) rs750662701
NM_000383.4(AIRE):c.1422C>G (p.Ser474=)
NM_000383.4(AIRE):c.1427C>G (p.Ser476Ter)
NM_000383.4(AIRE):c.1429G>T (p.Gly477Ter) rs866898746
NM_000383.4(AIRE):c.1435G>A (p.Val479Met)
NM_000383.4(AIRE):c.1438A>G (p.Thr480Ala)
NM_000383.4(AIRE):c.143_145del (p.His48del) rs1601964364
NM_000383.4(AIRE):c.1440C>A (p.Thr480=) rs1402478750
NM_000383.4(AIRE):c.1443A>G (p.Pro481=) rs2146385828
NM_000383.4(AIRE):c.1447C>A (p.Pro483Thr) rs780816581
NM_000383.4(AIRE):c.1447C>G (p.Pro483Ala)
NM_000383.4(AIRE):c.1448C>G (p.Pro483Arg) rs2146385840
NM_000383.4(AIRE):c.1449_1476del (p.Val484fs)
NM_000383.4(AIRE):c.1451T>C (p.Val484Ala)
NM_000383.4(AIRE):c.1452G>T (p.Val484=) rs2146385848
NM_000383.4(AIRE):c.1458G>T (p.Gly486=)
NM_000383.4(AIRE):c.1460T>C (p.Val487Ala)
NM_000383.4(AIRE):c.1464G>A (p.Leu488=) rs2146385885
NM_000383.4(AIRE):c.1464G>T (p.Leu488=)
NM_000383.4(AIRE):c.1466C>T (p.Ala489Val) rs2146385893
NM_000383.4(AIRE):c.1468C>T (p.Pro490Ser)
NM_000383.4(AIRE):c.1470_1490del (p.Ser491_Pro497del)
NM_000383.4(AIRE):c.1473C>T (p.Ser491=) rs761718813
NM_000383.4(AIRE):c.1474C>G (p.Pro492Ala)
NM_000383.4(AIRE):c.1476C>A (p.Pro492=) rs72650679
NM_000383.4(AIRE):c.1478C>G (p.Ala493Gly)
NM_000383.4(AIRE):c.1480_1483del (p.Arg494fs) rs1057517072
NM_000383.4(AIRE):c.1481G>T (p.Arg494Leu) rs528762050
NM_000383.4(AIRE):c.1491T>C (p.Pro497=) rs528761924
NM_000383.4(AIRE):c.1497T>C (p.Pro499=)
NM_000383.4(AIRE):c.1497T>G (p.Pro499=) rs926723773
NM_000383.4(AIRE):c.1497del (p.Ala500fs)
NM_000383.4(AIRE):c.149A>G (p.Lys50Arg)
NM_000383.4(AIRE):c.14_15del (p.Ala5fs) rs2146375012
NM_000383.4(AIRE):c.1503+10G>C
NM_000383.4(AIRE):c.1503+11C>T
NM_000383.4(AIRE):c.1503+13G>T
NM_000383.4(AIRE):c.1503+14G>A
NM_000383.4(AIRE):c.1503+16G>T
NM_000383.4(AIRE):c.1503+17C>T
NM_000383.4(AIRE):c.1503+18C>T
NM_000383.4(AIRE):c.1503+1G>A
NM_000383.4(AIRE):c.1503+1G>T rs1156582406
NM_000383.4(AIRE):c.1503+9C>A
NM_000383.4(AIRE):c.1504-13T>A
NM_000383.4(AIRE):c.1504-14_1504-13del
NM_000383.4(AIRE):c.1504-17T>C
NM_000383.4(AIRE):c.1504-18C>T
NM_000383.4(AIRE):c.1505A>T (p.Asp502Val) rs1444691231
NM_000383.4(AIRE):c.1512T>C (p.Thr504=) rs2040607807
NM_000383.4(AIRE):c.1515C>A (p.Ala505=)
NM_000383.4(AIRE):c.1517G>T (p.Ser506Ile)
NM_000383.4(AIRE):c.1521C>T (p.His507=) rs751968210
NM_000383.4(AIRE):c.1522G>T (p.Glu508Ter)
NM_000383.4(AIRE):c.1525C>T (p.Pro509Ser) rs999281375
NM_000383.4(AIRE):c.1528G>A (p.Ala510Thr)
NM_000383.4(AIRE):c.1528G>C (p.Ala510Pro)
NM_000383.4(AIRE):c.1540del (p.Asp514fs) rs2146388096
NM_000383.4(AIRE):c.1545C>T (p.Asp515=) rs2146388098
NM_000383.4(AIRE):c.1553C>T (p.Ser518Phe)
NM_000383.4(AIRE):c.1554C>G (p.Ser518=)
NM_000383.4(AIRE):c.1554C>T (p.Ser518=) rs1432714738
NM_000383.4(AIRE):c.1555C>T (p.Leu519Phe)
NM_000383.4(AIRE):c.1558C>T (p.Leu520=)
NM_000383.4(AIRE):c.1563C>A (p.Ser521Arg) rs746873146
NM_000383.4(AIRE):c.1564G>A (p.Glu522Lys)
NM_000383.4(AIRE):c.1566+12C>A
NM_000383.4(AIRE):c.1566+12C>T
NM_000383.4(AIRE):c.1566+12_1566+13del
NM_000383.4(AIRE):c.1566+13C>T
NM_000383.4(AIRE):c.1566+14T>G
NM_000383.4(AIRE):c.1566+15G>A rs2040609241
NM_000383.4(AIRE):c.1566+18C>T
NM_000383.4(AIRE):c.1566+1G>C
NM_000383.4(AIRE):c.1566+5C>T
NM_000383.4(AIRE):c.1566+6G>A
NM_000383.4(AIRE):c.1566+7C>A rs2146388160
NM_000383.4(AIRE):c.1566+9T>A rs2146388175
NM_000383.4(AIRE):c.1567-10T>C
NM_000383.4(AIRE):c.1567-17_1567-15dup rs2146389783
NM_000383.4(AIRE):c.1567-1G>A rs1601973101
NM_000383.4(AIRE):c.1575C>T (p.Phe525=) rs1399845704
NM_000383.4(AIRE):c.1578_1579inv (p.Gly527Ser)
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter) rs1057516272
NM_000383.4(AIRE):c.1581C>A (p.Gly527=)
NM_000383.4(AIRE):c.1587G>A (p.Leu529=) rs779142964
NM_000383.4(AIRE):c.1595C>T (p.Ala532Val)
NM_000383.4(AIRE):c.159G>A (p.Glu53=) rs1413552217
NM_000383.4(AIRE):c.15G>T (p.Ala5=)
NM_000383.4(AIRE):c.1605C>A (p.Ser535Arg) rs2146389859
NM_000383.4(AIRE):c.1608G>T (p.Met536Ile)
NM_000383.4(AIRE):c.1609G>C (p.Ala537Pro)
NM_000383.4(AIRE):c.1613G>A (p.Arg538His)
NM_000383.4(AIRE):c.1615C>A (p.Pro539Thr)
NM_000383.4(AIRE):c.162C>G (p.Gly54=)
NM_000383.4(AIRE):c.1630C>A (p.Pro544Thr)
NM_000383.4(AIRE):c.167C>T (p.Pro56Leu) rs2040484477
NM_000383.4(AIRE):c.173C>G (p.Ala58Gly) rs747941115
NM_000383.4(AIRE):c.174C>G (p.Ala58=)
NM_000383.4(AIRE):c.177C>T (p.Phe59=) rs2146375781
NM_000383.4(AIRE):c.181G>A (p.Ala61Thr)
NM_000383.4(AIRE):c.186C>G (p.Leu62=)
NM_000383.4(AIRE):c.186C>T (p.Leu62=)
NM_000383.4(AIRE):c.187C>A (p.Leu63Met)
NM_000383.4(AIRE):c.193_197dup (p.Leu67fs) rs2146375818
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
NM_000383.4(AIRE):c.202A>G (p.Thr68Ala)
NM_000383.4(AIRE):c.205C>T (p.Gln69Ter) rs2146375836
NM_000383.4(AIRE):c.21A>C (p.Leu7=)
NM_000383.4(AIRE):c.21_43dup (p.Arg15delinsHisAlaGlyPheTer) rs1601963938
NM_000383.4(AIRE):c.228C>T (p.Asp76=)
NM_000383.4(AIRE):c.236G>C (p.Arg79Thr)
NM_000383.4(AIRE):c.237G>A (p.Arg79=)
NM_000383.4(AIRE):c.238G>A (p.Val80Met)
NM_000383.4(AIRE):c.23G>A (p.Arg8His)
NM_000383.4(AIRE):c.240G>A (p.Val80=)
NM_000383.4(AIRE):c.241C>T (p.Leu81=)
NM_000383.4(AIRE):c.247A>G (p.Lys83Glu) rs121434255
NM_000383.4(AIRE):c.249G>A (p.Lys83=) rs2146375874
NM_000383.4(AIRE):c.24C>G (p.Arg8=)
NM_000383.4(AIRE):c.253_255del (p.Tyr85del) rs2146375885
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) rs179363882
NM_000383.4(AIRE):c.259C>T (p.Leu87=)
NM_000383.4(AIRE):c.260del (p.Leu87fs) rs1057517428
NM_000383.4(AIRE):c.262G>T (p.Glu88Ter)
NM_000383.4(AIRE):c.266G>T (p.Arg89Leu)
NM_000383.4(AIRE):c.269A>G (p.Tyr90Cys) rs179363883
NM_000383.4(AIRE):c.273C>T (p.Gly91=)
NM_000383.4(AIRE):c.277C>T (p.Leu93=)
NM_000383.4(AIRE):c.278T>A (p.Leu93Gln)
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg) rs179363884
NM_000383.4(AIRE):c.27G>T (p.Arg9=)
NM_000383.4(AIRE):c.280C>T (p.Gln94Ter)
NM_000383.4(AIRE):c.282G>A (p.Gln94=) rs776836665
NM_000383.4(AIRE):c.283C>T (p.Pro95Ser)
NM_000383.4(AIRE):c.285C>T (p.Pro95=)
NM_000383.4(AIRE):c.286A>C (p.Ile96Leu) rs2146375950
NM_000383.4(AIRE):c.290T>C (p.Leu97Pro) rs2146375951
NM_000383.4(AIRE):c.291G>A (p.Leu97=)
NM_000383.4(AIRE):c.294C>T (p.Asp98=) rs2146375955
NM_000383.4(AIRE):c.297C>T (p.Ser99=)
NM_000383.4(AIRE):c.2T>C (p.Met1Thr)
NM_000383.4(AIRE):c.2T>G (p.Met1Arg) rs2146374989
NM_000383.4(AIRE):c.303C>T (p.Pro101=)
NM_000383.4(AIRE):c.307+10G>T
NM_000383.4(AIRE):c.307+11G>A
NM_000383.4(AIRE):c.307+17T>C
NM_000383.4(AIRE):c.307+18C>T rs562210054
NM_000383.4(AIRE):c.307+2T>G rs2146375964
NM_000383.4(AIRE):c.307+9_307+10delinsAT rs2146375974
NM_000383.4(AIRE):c.308-11C>G
NM_000383.4(AIRE):c.308-14_308-9dup
NM_000383.4(AIRE):c.308-18C>T
NM_000383.4(AIRE):c.308-3C>T
NM_000383.4(AIRE):c.308-6C>T
NM_000383.4(AIRE):c.308-7G>T
NM_000383.4(AIRE):c.310G>A (p.Val104Met)
NM_000383.4(AIRE):c.312G>A (p.Val104=)
NM_000383.4(AIRE):c.322C>T (p.Gln108Ter) rs1472808103
NM_000383.4(AIRE):c.324G>A (p.Gln108=)
NM_000383.4(AIRE):c.325C>G (p.Pro109Ala)
NM_000383.4(AIRE):c.326C>T (p.Pro109Leu)
NM_000383.4(AIRE):c.328del (p.Arg110fs) rs1162316051
NM_000383.4(AIRE):c.329G>A (p.Arg110Gln)
NM_000383.4(AIRE):c.332A>C (p.Lys111Thr)
NM_000383.4(AIRE):c.333G>A (p.Lys111=)
NM_000383.4(AIRE):c.336G>A (p.Gly112=)
NM_000383.4(AIRE):c.336G>T (p.Gly112=)
NM_000383.4(AIRE):c.339G>A (p.Arg113=) rs2040488791
NM_000383.4(AIRE):c.340A>T (p.Lys114Ter) rs2146376221
NM_000383.4(AIRE):c.347del (p.Pro116fs) rs1568926472
NM_000383.4(AIRE):c.348G>C (p.Pro116=) rs74162060
NM_000383.4(AIRE):c.348G>T (p.Pro116=)
NM_000383.4(AIRE):c.349del (p.Ala117fs)
NM_000383.4(AIRE):c.354C>A (p.Val118=) rs528667089
NM_000383.4(AIRE):c.354C>T (p.Val118=) rs528667089
NM_000383.4(AIRE):c.355C>A (p.Pro119Thr)
NM_000383.4(AIRE):c.364T>C (p.Leu122=)
NM_000383.4(AIRE):c.36del (p.Arg12fs) rs2146375064
NM_000383.4(AIRE):c.375A>G (p.Pro125=) rs2146376299
NM_000383.4(AIRE):c.378C>T (p.Pro126=)
NM_000383.4(AIRE):c.384C>T (p.Leu128=) rs2146376310
NM_000383.4(AIRE):c.387C>T (p.Pro129=) rs762735482
NM_000383.4(AIRE):c.390C>A (p.Thr130=) rs2040489548
NM_000383.4(AIRE):c.390C>T (p.Thr130=)
NM_000383.4(AIRE):c.402C>T (p.Ala134=) rs2146376334
NM_000383.4(AIRE):c.415C>G (p.Arg139Gly)
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) rs121434256
NM_000383.4(AIRE):c.416G>C (p.Arg139Pro) rs201965760
NM_000383.4(AIRE):c.41A>C (p.His14Pro)
NM_000383.4(AIRE):c.420T>C (p.Ala140=) rs2146376372
NM_000383.4(AIRE):c.423C>A (p.Ala141=)
NM_000383.4(AIRE):c.425C>T (p.Ala142Val)
NM_000383.4(AIRE):c.42C>T (p.His14=) rs2146375067
NM_000383.4(AIRE):c.438G>A (p.Leu146=) rs2146376401
NM_000383.4(AIRE):c.43C>G (p.Arg15Gly) rs179363875
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys) rs179363875
NM_000383.4(AIRE):c.440C>T (p.Thr147Ile)
NM_000383.4(AIRE):c.443C>T (p.Pro148Leu)
NM_000383.4(AIRE):c.444A>C (p.Pro148=) rs2146376404
NM_000383.4(AIRE):c.449del (p.Gly150fs)
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu) rs179363876
NM_000383.4(AIRE):c.453C>A (p.Thr151=)
NM_000383.4(AIRE):c.45C>T (p.Arg15=)
NM_000383.4(AIRE):c.461C>T (p.Pro154Leu)
NM_000383.4(AIRE):c.463+10C>T
NM_000383.4(AIRE):c.463+12G>T
NM_000383.4(AIRE):c.463+13C>A
NM_000383.4(AIRE):c.463+5C>A
NM_000383.4(AIRE):c.463+5C>T rs569224551
NM_000383.4(AIRE):c.463+6C>G rs2146376456
NM_000383.4(AIRE):c.463+7del
NM_000383.4(AIRE):c.464-16C>T
NM_000383.4(AIRE):c.464-16del
NM_000383.4(AIRE):c.464-17C>T
NM_000383.4(AIRE):c.464-20C>T
NM_000383.4(AIRE):c.464-6A>C
NM_000383.4(AIRE):c.464-7C>A
NM_000383.4(AIRE):c.464-7C>T rs768310786
NM_000383.4(AIRE):c.464-8C>G rs1254160382
NM_000383.4(AIRE):c.467C>T (p.Ser156Phe)
NM_000383.4(AIRE):c.469C>T (p.Gln157Ter) rs1488613451
NM_000383.4(AIRE):c.46A>G (p.Thr16Ala)
NM_000383.4(AIRE):c.46_63dup (p.Thr16_Ala21dup) rs2040477781
NM_000383.4(AIRE):c.471A>G (p.Gln157=)
NM_000383.4(AIRE):c.472C>T (p.Leu158=)
NM_000383.4(AIRE):c.473T>C (p.Leu158Pro) rs2040495001
NM_000383.4(AIRE):c.476A>G (p.Lys159Arg)
NM_000383.4(AIRE):c.478G>A (p.Ala160Thr) rs1568926733
NM_000383.4(AIRE):c.47C>T (p.Thr16Met) rs179363877
NM_000383.4(AIRE):c.481_486del (p.Lys161_Pro162del)
NM_000383.4(AIRE):c.483G>A (p.Lys161=) rs2040495155
NM_000383.4(AIRE):c.488C>T (p.Pro163Leu)
NM_000383.4(AIRE):c.489del (p.Lys164fs) rs746101086
NM_000383.4(AIRE):c.489dup (p.Lys164fs) rs746101086
NM_000383.4(AIRE):c.48G>C (p.Thr16=) rs2146375080
NM_000383.4(AIRE):c.491A>G (p.Lys164Arg)
NM_000383.4(AIRE):c.494A>G (p.Lys165Arg)
NM_000383.4(AIRE):c.507C>G (p.Ser169Arg)
NM_000383.4(AIRE):c.508G>A (p.Ala170Thr)
NM_000383.4(AIRE):c.508_517dup (p.Gln173fs) rs1179261094
NM_000383.4(AIRE):c.510_522del (p.Glu171fs) rs940485051
NM_000383.4(AIRE):c.510_522dup (p.Leu175fs) rs940485051
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.4(AIRE):c.519G>A (p.Gln173=) rs2146376946
NM_000383.4(AIRE):c.520C>G (p.Arg174Gly) rs752687905
NM_000383.4(AIRE):c.524T>C (p.Leu175Pro) rs972262344
NM_000383.4(AIRE):c.527C>T (p.Pro176Leu) rs375658223
NM_000383.4(AIRE):c.531C>A (p.Leu177=)
NM_000383.4(AIRE):c.537C>T (p.Asn179=)
NM_000383.4(AIRE):c.538+10G>T
NM_000383.4(AIRE):c.538+14A>C
NM_000383.4(AIRE):c.538+9G>T
NM_000383.4(AIRE):c.539-14G>A
NM_000383.4(AIRE):c.539-15T>C
NM_000383.4(AIRE):c.539-17G>A
NM_000383.4(AIRE):c.539-18G>A
NM_000383.4(AIRE):c.539-20A>G
NM_000383.4(AIRE):c.539-2A>G rs2146377702
NM_000383.4(AIRE):c.539-6T>G
NM_000383.4(AIRE):c.539-8T>C
NM_000383.4(AIRE):c.539-9C>A
NM_000383.4(AIRE):c.539-9C>T rs757848836
NM_000383.4(AIRE):c.539_540delinsAT (p.Gly180Asp) rs2146377706
NM_000383.4(AIRE):c.545A>C (p.Gln182Pro) rs2040502920
NM_000383.4(AIRE):c.546_547dup (p.Thr183fs)
NM_000383.4(AIRE):c.54C>G (p.Ile18Met)
NM_000383.4(AIRE):c.550A>G (p.Met184Val) rs2146377723
NM_000383.4(AIRE):c.551T>C (p.Met184Thr)
NM_000383.4(AIRE):c.560C>G (p.Ser187Ter) rs143952576
NM_000383.4(AIRE):c.564C>A (p.Val188=) rs201650973
NM_000383.4(AIRE):c.580A>G (p.Met194Val)
NM_000383.4(AIRE):c.581T>C (p.Met194Thr) rs1351412367
NM_000383.4(AIRE):c.599dup (p.Ala202fs) rs1213326298
NM_000383.4(AIRE):c.600G>C (p.Pro200=)
NM_000383.4(AIRE):c.603A>G (p.Gly201=)
NM_000383.4(AIRE):c.615C>G (p.Ala205=) rs143784684
NM_000383.4(AIRE):c.616G>A (p.Val206Met)
NM_000383.4(AIRE):c.619G>A (p.Glu207Lys)
NM_000383.4(AIRE):c.621G>A (p.Glu207=)
NM_000383.4(AIRE):c.637C>G (p.Gln213Glu) rs1029475010
NM_000383.4(AIRE):c.63C>A (p.Ala21=) rs371796437
NM_000383.4(AIRE):c.63C>G (p.Ala21=) rs371796437
NM_000383.4(AIRE):c.645T>C (p.Phe215=)
NM_000383.4(AIRE):c.652+12G>A
NM_000383.4(AIRE):c.652+18G>A
NM_000383.4(AIRE):c.652+2T>C rs1555872272
NM_000383.4(AIRE):c.652+6C>T
NM_000383.4(AIRE):c.652+9T>C rs2146377909
NM_000383.4(AIRE):c.653-10C>T rs760848364
NM_000383.4(AIRE):c.653-12A>G
NM_000383.4(AIRE):c.653-13C>T
NM_000383.4(AIRE):c.653-15G>T
NM_000383.4(AIRE):c.653-20C>T
NM_000383.4(AIRE):c.653-8C>T
NM_000383.4(AIRE):c.654C>A (p.Gly218=) rs146377356
NM_000383.4(AIRE):c.654C>T (p.Gly218=) rs146377356
NM_000383.4(AIRE):c.657C>A (p.Gly219=)
NM_000383.4(AIRE):c.657C>T (p.Gly219=) rs2146379141
NM_000383.4(AIRE):c.660C>T (p.Ser220=)
NM_000383.4(AIRE):c.66G>T (p.Val22=)
NM_000383.4(AIRE):c.672C>T (p.Ile224=)
NM_000383.4(AIRE):c.680_681delinsAT (p.Gly227Asp) rs2146379169
NM_000383.4(AIRE):c.681C>G (p.Gly227=) rs1055311
NM_000383.4(AIRE):c.687G>A (p.Glu229=)
NM_000383.4(AIRE):c.68A>G (p.Asp23Gly) rs2040478254
NM_000383.4(AIRE):c.693C>T (p.Tyr231=) rs1601966572
NM_000383.4(AIRE):c.696T>C (p.Thr232=)
NM_000383.4(AIRE):c.699C>T (p.Pro233=) rs2146379208
NM_000383.4(AIRE):c.708C>T (p.Phe236=) rs908180454
NM_000383.4(AIRE):c.709G>T (p.Glu237Ter)
NM_000383.4(AIRE):c.712G>C (p.Asp238His)
NM_000383.4(AIRE):c.713A>C (p.Asp238Ala)
NM_000383.4(AIRE):c.716C>A (p.Ser239Tyr) rs2146379236
NM_000383.4(AIRE):c.717C>G (p.Ser239=) rs149130190
NM_000383.4(AIRE):c.722G>T (p.Ser241Ile)
NM_000383.4(AIRE):c.723T>C (p.Ser241=)
NM_000383.4(AIRE):c.727A>G (p.Lys243Glu) rs2040517102
NM_000383.4(AIRE):c.729G>A (p.Lys243=)
NM_000383.4(AIRE):c.72C>T (p.Ser24=)
NM_000383.4(AIRE):c.733A>G (p.Lys245Glu)
NM_000383.4(AIRE):c.734A>G (p.Lys245Arg)
NM_000383.4(AIRE):c.739C>T (p.Arg247Cys)
NM_000383.4(AIRE):c.741C>A (p.Arg247=) rs1417017303
NM_000383.4(AIRE):c.741C>T (p.Arg247=)
NM_000383.4(AIRE):c.742A>G (p.Ser248Gly)
NM_000383.4(AIRE):c.747C>T (p.Ser249=)
NM_000383.4(AIRE):c.747del (p.Ser249fs) rs2146379302
NM_000383.4(AIRE):c.756G>T (p.Pro252=) rs765738882
NM_000383.4(AIRE):c.759G>A (p.Lys253=) rs2146379321
NM_000383.4(AIRE):c.766G>A (p.Val256Ile) rs753558091
NM_000383.4(AIRE):c.768del (p.Arg257fs)
NM_000383.4(AIRE):c.774C>T (p.Ala258=) rs2040517869
NM_000383.4(AIRE):c.783C>A (p.Ala261=)
NM_000383.4(AIRE):c.783C>T (p.Ala261=) rs777866382
NM_000383.4(AIRE):c.784C>T (p.Gln262Ter) rs2146379356
NM_000383.4(AIRE):c.785A>G (p.Gln262Arg) rs2040517979
NM_000383.4(AIRE):c.789C>G (p.Gly263=)
NM_000383.4(AIRE):c.78C>T (p.Phe26=) rs1443107040
NM_000383.4(AIRE):c.795C>T (p.Ala265=) rs201171818
NM_000383.4(AIRE):c.798+10T>C
NM_000383.4(AIRE):c.798+12_798+21del rs1456310412
NM_000383.4(AIRE):c.798+14C>A
NM_000383.4(AIRE):c.798+14C>T
NM_000383.4(AIRE):c.798+17C>G
NM_000383.4(AIRE):c.798+17C>T
NM_000383.4(AIRE):c.798+19C>G
NM_000383.4(AIRE):c.798+1G>C rs138489664
NM_000383.4(AIRE):c.798+1G>T rs138489664
NM_000383.4(AIRE):c.798+8C>T
NM_000383.4(AIRE):c.798C>G (p.Pro266=) rs41277550
NM_000383.4(AIRE):c.798C>T (p.Pro266=) rs41277550
NM_000383.4(AIRE):c.798dup (p.Gly267fs)
NM_000383.4(AIRE):c.799-16C>T
NM_000383.4(AIRE):c.799-17G>A rs72650675
NM_000383.4(AIRE):c.799-6T>C rs2146379591
NM_000383.4(AIRE):c.799-8C>T
NM_000383.4(AIRE):c.804A>G (p.Gly268=) rs2146379604
NM_000383.4(AIRE):c.816G>T (p.Arg272Ser) rs1568927979
NM_000383.4(AIRE):c.817C>T (p.Leu273=) rs372819974
NM_000383.4(AIRE):c.819G>T (p.Leu273=) rs756188438
NM_000383.4(AIRE):c.822C>T (p.Gly274=)
NM_000383.4(AIRE):c.823del (p.Gln275fs) rs764819068
NM_000383.4(AIRE):c.827A>G (p.Gln276Arg)
NM_000383.4(AIRE):c.828G>A (p.Gln276=) rs2146379663
NM_000383.4(AIRE):c.831C>T (p.Gly277=) rs1180944731
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000383.4(AIRE):c.834C>T (p.Ser278=) rs1800520
NM_000383.4(AIRE):c.837T>C (p.Val279=)
NM_000383.4(AIRE):c.850G>A (p.Ala284Thr) rs1311252316
NM_000383.4(AIRE):c.851C>G (p.Ala284Gly)
NM_000383.4(AIRE):c.852C>T (p.Ala284=)
NM_000383.4(AIRE):c.858C>A (p.Pro286=) rs1314044062
NM_000383.4(AIRE):c.865C>A (p.Pro289Thr)
NM_000383.4(AIRE):c.867C>G (p.Pro289=)
NM_000383.4(AIRE):c.867C>T (p.Pro289=)
NM_000383.4(AIRE):c.868C>T (p.Gln290Ter)
NM_000383.4(AIRE):c.868del (p.Gln290fs) rs2146379725
NM_000383.4(AIRE):c.876C>T (p.His292=)
NM_000383.4(AIRE):c.878del (p.Gln293fs)
NM_000383.4(AIRE):c.879+11A>G rs1601966929
NM_000383.4(AIRE):c.879+14C>T
NM_000383.4(AIRE):c.879+15C>T
NM_000383.4(AIRE):c.879+17C>T
NM_000383.4(AIRE):c.879+20G>A
NM_000383.4(AIRE):c.879+7C>T
NM_000383.4(AIRE):c.879+7_879+8insA
NM_000383.4(AIRE):c.879+8C>A
NM_000383.4(AIRE):c.879+8C>T rs760555624
NM_000383.4(AIRE):c.87G>A (p.Leu29=) rs2146375160
NM_000383.4(AIRE):c.880-11G>A
NM_000383.4(AIRE):c.880-16C>T
NM_000383.4(AIRE):c.880-19C>A
NM_000383.4(AIRE):c.880-19C>T rs768876713
NM_000383.4(AIRE):c.880-20G>A
NM_000383.4(AIRE):c.880-6T>C
NM_000383.4(AIRE):c.880-7G>T rs141955483
NM_000383.4(AIRE):c.880-9C>T
NM_000383.4(AIRE):c.882G>A (p.Lys294=) rs2146380881
NM_000383.4(AIRE):c.889G>A (p.Asp297Asn) rs2040534355
NM_000383.4(AIRE):c.899C>A (p.Ala300Asp) rs868756561
NM_000383.4(AIRE):c.899C>T (p.Ala300Val) rs868756561
NM_000383.4(AIRE):c.901G>C (p.Val301Leu)
NM_000383.4(AIRE):c.903G>C (p.Val301=) rs1368560349
NM_000383.4(AIRE):c.907C>T (p.Arg303Trp)
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg) rs754932526
NM_000383.4(AIRE):c.924C>T (p.Leu308=)
NM_000383.4(AIRE):c.925A>G (p.Ile309Val) rs936714310
NM_000383.4(AIRE):c.930C>T (p.Cys310=) rs2146380972
NM_000383.4(AIRE):c.931del (p.Cys311fs) rs1555872755
NM_000383.4(AIRE):c.933T>A (p.Cys311Ter)
NM_000383.4(AIRE):c.93G>C (p.Ala31=)
NM_000383.4(AIRE):c.946C>G (p.Arg316Gly)
NM_000383.4(AIRE):c.946C>T (p.Arg316Trp)
NM_000383.4(AIRE):c.948G>A (p.Arg316=)
NM_000383.4(AIRE):c.958del (p.Leu320fs) rs1568928525
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000383.4(AIRE):c.969G>C (p.Leu323=)
NM_000383.4(AIRE):c.969_975del (p.Ser324fs) rs2146381019
NM_000383.4(AIRE):c.96G>C (p.Leu32=)
NM_000383.4(AIRE):c.978G>A (p.Pro326=) rs972756453
NM_000383.4(AIRE):c.981C>T (p.Leu327=)
NM_000383.4(AIRE):c.984G>A (p.Arg328=) rs2146381050
NM_000383.4(AIRE):c.985G>A (p.Glu329Lys)
NM_000383.4(AIRE):c.987G>A (p.Glu329=) rs2146381060
NM_000383.4(AIRE):c.995+11_995+18del
NM_000383.4(AIRE):c.995+12C>A
NM_000383.4(AIRE):c.995+12C>T
NM_000383.4(AIRE):c.995+15C>T
NM_000383.4(AIRE):c.995+1G>A
NM_000383.4(AIRE):c.995+1G>C
NM_000383.4(AIRE):c.995+3_995+5delinsTAT rs2040536458
NM_000383.4(AIRE):c.996-14G>A
NM_000383.4(AIRE):c.996-15T>C
NM_000383.4(AIRE):c.996-1G>A
NM_000383.4(AIRE):c.996-20_996-17del
NM_000383.4(AIRE):c.996-4G>A rs1057104935
NM_000383.4(AIRE):c.996-6G>A rs781400305
NM_000383.4(AIRE):c.996-7C>A rs568895777
NM_000383.4(AIRE):c.996-9C>T
NM_000383.4(AIRE):c.999G>A (p.Gly333=)
NM_000383.4(AIRE):c.999G>T (p.Gly333=) rs1445602810
NM_000383.4(AIRE):c.9G>A (p.Thr3=)
NM_000383.4(AIRE):c.9G>C (p.Thr3=)
NM_000639.3(FASLG):c.135A>G (p.Pro45=)
NM_000639.3(FASLG):c.135ACC[2] (p.Pro52_Pro53del)
NM_000639.3(FASLG):c.135ACC[3] (p.Pro53del) rs750792722
NM_000639.3(FASLG):c.144_152del (p.Pro51_Pro53del) rs777390517
NM_000639.3(FASLG):c.146C>T (p.Pro49Leu)
NM_000639.3(FASLG):c.147GCCACC[1] (p.Pro52_Pro53del) rs749237778
NM_000639.3(FASLG):c.147GCCACC[3] (p.Pro52_Pro53dup) rs749237778
NM_000639.3(FASLG):c.152C>A (p.Pro51Gln)
NM_000639.3(FASLG):c.156_179dup (p.Leu54_Pro61dup) rs1659086365
NM_000639.3(FASLG):c.162_188dup (p.Pro65_Leu66insProProProProProProLeuProPro)
NM_000639.3(FASLG):c.171GCC[5] (p.Pro62_Leu63insPro)
NM_000639.3(FASLG):c.174G>C (p.Pro58=)
NM_000639.3(FASLG):c.190_213dup (p.Pro64_Leu71dup) rs1165102233
NM_000639.3(FASLG):c.200C>A (p.Pro67Gln)
NM_000639.3(FASLG):c.207A>G (p.Pro69=) rs769398033
NM_000639.3(FASLG):c.210C>T (p.Pro70=)
NM_000639.3(FASLG):c.213G>A (p.Leu71=)
NM_000639.3(FASLG):c.221G>A (p.Arg74Lys)
NM_000639.3(FASLG):c.225G>A (p.Gly75=) rs761614632
NM_000639.3(FASLG):c.228C>G (p.Asn76Lys)
NM_000639.3(FASLG):c.241C>T (p.Leu81=)
NM_000639.3(FASLG):c.256A>G (p.Met86Val) rs1659091267
NM_000639.3(FASLG):c.279C>T (p.Ala93=)
NM_000639.3(FASLG):c.295C>T (p.Leu99=)
NM_000639.3(FASLG):c.300G>T (p.Gly100=) rs1314891100
NM_000639.3(FASLG):c.312C>T (p.Leu104=)
NM_000639.3(FASLG):c.313T>C (p.Phe105Leu) rs2101806696
NM_000639.3(FASLG):c.321A>G (p.Leu107=)
NM_000639.3(FASLG):c.343C>T (p.Arg115Ter) rs773045347
NM_000639.3(FASLG):c.344G>T (p.Arg115Leu)
NM_000639.3(FASLG):c.348+11C>T
NM_000639.3(FASLG):c.348+14C>T
NM_000639.3(FASLG):c.348+9G>A
NM_000639.3(FASLG):c.349-13T>C
NM_000639.3(FASLG):c.349-16C>T
NM_000639.3(FASLG):c.351T>G (p.Ser117=)
NM_000639.3(FASLG):c.355A>T (p.Ser119Cys) rs1659104491
NM_000639.3(FASLG):c.362T>G (p.Met121Arg) rs1303419746
NM_000639.3(FASLG):c.368C>T (p.Thr123Ile)
NM_000639.3(FASLG):c.394+13dup
NM_000639.3(FASLG):c.394+16C>A
NM_000639.3(FASLG):c.394+17A>C
NM_000639.3(FASLG):c.395-13C>G
NM_000639.3(FASLG):c.397C>T (p.His133Tyr) rs1414237389
NM_000639.3(FASLG):c.401C>G (p.Pro134Arg) rs766811734
NM_000639.3(FASLG):c.405T>C (p.Ser135=)
NM_000639.3(FASLG):c.410C>T (p.Pro137Leu)
NM_000639.3(FASLG):c.411C>A (p.Pro137=)
NM_000639.3(FASLG):c.415G>A (p.Glu139Lys)
NM_000639.3(FASLG):c.424_425delinsTT (p.Glu142Leu)
NM_000639.3(FASLG):c.44del (p.Val15fs)
NM_000639.3(FASLG):c.451+11G>A
NM_000639.3(FASLG):c.451+12G>A
NM_000639.3(FASLG):c.452-11A>T
NM_000639.3(FASLG):c.452-13G>A
NM_000639.3(FASLG):c.452G>A (p.Gly151Asp)
NM_000639.3(FASLG):c.453C>A (p.Gly151=)
NM_000639.3(FASLG):c.473T>C (p.Met158Thr)
NM_000639.3(FASLG):c.484T>C (p.Trp162Arg) rs2101810526
NM_000639.3(FASLG):c.498T>C (p.Tyr166=)
NM_000639.3(FASLG):c.522G>A (p.Val174=)
NM_000639.3(FASLG):c.537T>C (p.Gly179=) rs2101810574
NM_000639.3(FASLG):c.540C>T (p.Gly180=)
NM_000639.3(FASLG):c.54T>A (p.Ser18Arg) rs1659080899
NM_000639.3(FASLG):c.552T>C (p.Asn184=)
NM_000639.3(FASLG):c.592C>T (p.Arg198Trp)
NM_000639.3(FASLG):c.598C>A (p.Gln200Lys) rs2101810632
NM_000639.3(FASLG):c.615G>T (p.Leu205=) rs2101810642
NM_000639.3(FASLG):c.628A>G (p.Lys210Glu)
NM_000639.3(FASLG):c.631G>A (p.Val211Ile)
NM_000639.3(FASLG):c.637A>G (p.Met213Val)
NM_000639.3(FASLG):c.639G>A (p.Met213Ile)
NM_000639.3(FASLG):c.653A>G (p.Tyr218Cys)
NM_000639.3(FASLG):c.659A>G (p.Gln220Arg) rs1659249691
NM_000639.3(FASLG):c.666G>A (p.Leu222=) rs2101810683
NM_000639.3(FASLG):c.690G>A (p.Met230Ile) rs999784381
NM_000639.3(FASLG):c.702T>C (p.Thr234=)
NM_000639.3(FASLG):c.708G>A (p.Gly236=)
NM_000639.3(FASLG):c.720C>T (p.Ala240=)
NM_000639.3(FASLG):c.72C>A (p.Ala24=) rs182516315
NM_000639.3(FASLG):c.743T>C (p.Val248Ala) rs1571333759
NM_000639.3(FASLG):c.749A>T (p.Asn250Ile) rs376317481
NM_000639.3(FASLG):c.780C>T (p.Asn260=)
NM_000639.3(FASLG):c.796C>G (p.Leu266Val)
NM_000639.3(FASLG):c.802A>T (p.Asn268Tyr)
NM_000639.3(FASLG):c.822G>A (p.Thr274=)
NM_000639.3(FASLG):c.822G>T (p.Thr274=) rs199500307
NM_000639.3(FASLG):c.91C>T (p.Pro31Ser)
NM_000639.3(FASLG):c.95G>C (p.Cys32Ser) rs1659082010
NM_001370466.1(NOD2):c.-8-1G>C
NM_001370466.1(NOD2):c.-8-2158G>C
NM_001370466.1(NOD2):c.-8-2166A>G
NM_001370466.1(NOD2):c.-8-2173G>A
NM_001370466.1(NOD2):c.-8-2184G>A rs771671839
NM_001370466.1(NOD2):c.-8-2184G>T
NM_001370466.1(NOD2):c.-8-2193G>A rs886052043
NM_001370466.1(NOD2):c.-8-2202_-8-2194dup rs2150776605
NM_001370466.1(NOD2):c.-8-2208G>A rs2150776587
NM_001370466.1(NOD2):c.-8-2209G>A
NM_001370466.1(NOD2):c.-8-2213A>T
NM_001370466.1(NOD2):c.-8-2214G>A
NM_001370466.1(NOD2):c.-8-2215C>T
NM_001370466.1(NOD2):c.-8-2219C>T
NM_001370466.1(NOD2):c.-8G>C
NM_001370466.1(NOD2):c.1022T>C (p.Leu341Pro) rs1964452487
NM_001370466.1(NOD2):c.1035C>T (p.Asp345=)
NM_001370466.1(NOD2):c.1038T>C (p.Arg346=)
NM_001370466.1(NOD2):c.1050C>T (p.Thr350=) rs750655947
NM_001370466.1(NOD2):c.1057G>A (p.Gly353Ser)
NM_001370466.1(NOD2):c.1058G>A (p.Gly353Asp) rs1964456255
NM_001370466.1(NOD2):c.1065C>G (p.Asp355Glu) rs104895476
NM_001370466.1(NOD2):c.1065C>T (p.Asp355=)
NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys) rs104895477
NM_001370466.1(NOD2):c.1066G>T (p.Glu356Ter)
NM_001370466.1(NOD2):c.1068G>C (p.Glu356Asp)
NM_001370466.1(NOD2):c.1071C>T (p.Phe357=)
NM_001370466.1(NOD2):c.107G>A (p.Trp36Ter)
NM_001370466.1(NOD2):c.1086G>C (p.Thr362=)
NM_001370466.1(NOD2):c.1093G>A (p.Glu365Lys)
NM_001370466.1(NOD2):c.1102T>A (p.Cys368Ser)
NM_001370466.1(NOD2):c.1107C>T (p.Ser369=)
NM_001370466.1(NOD2):c.1110G>C (p.Pro370=)
NM_001370466.1(NOD2):c.1112C>A (p.Thr371Asn)
NM_001370466.1(NOD2):c.1112C>T (p.Thr371Ile) rs1964461594
NM_001370466.1(NOD2):c.1114G>A (p.Asp372Asn)
NM_001370466.1(NOD2):c.1121C>A (p.Thr374Asn)
NM_001370466.1(NOD2):c.113T>C (p.Val38Ala)
NM_001370466.1(NOD2):c.113_127dup (p.Glu42_Asp43insValLeuSerTrpGlu)
NM_001370466.1(NOD2):c.1141T>G (p.Phe381Val)
NM_001370466.1(NOD2):c.1160A>G (p.Asn387Ser) rs104895429
NM_001370466.1(NOD2):c.1174G>A (p.Ala392Thr)
NM_001370466.1(NOD2):c.1175C>T (p.Ala392Val)
NM_001370466.1(NOD2):c.1184T>G (p.Val395Gly)
NM_001370466.1(NOD2):c.1185G>A (p.Val395=) rs1344612505
NM_001370466.1(NOD2):c.1188G>A (p.Val396=) rs77966199
NM_001370466.1(NOD2):c.1190C>A (p.Thr397Asn) rs1596864349
NM_001370466.1(NOD2):c.1200G>C (p.Pro400=) rs104895430
NM_001370466.1(NOD2):c.1201G>A (p.Ala401Thr) rs1964470443
NM_001370466.1(NOD2):c.1204G>A (p.Ala402Thr)
NM_001370466.1(NOD2):c.1212G>A (p.Ser404=)
NM_001370466.1(NOD2):c.1217T>C (p.Phe406Ser) rs2150809796
NM_001370466.1(NOD2):c.1227G>T (p.Lys409Asn)
NM_001370466.1(NOD2):c.1242G>A (p.Glu414=) rs1224862712
NM_001370466.1(NOD2):c.1247A>G (p.Asn416Ser)
NM_001370466.1(NOD2):c.1253del (p.Lys418fs)
NM_001370466.1(NOD2):c.1271G>A (p.Gly424Asp) rs1249578378
NM_001370466.1(NOD2):c.1294C>T (p.Arg432Cys)
NM_001370466.1(NOD2):c.1295G>A (p.Arg432His)
NM_001370466.1(NOD2):c.1308C>A (p.Pro436=)
NM_001370466.1(NOD2):c.1309G>A (p.Gly437Arg)
NM_001370466.1(NOD2):c.1309G>T (p.Gly437Trp) rs104895492
NM_001370466.1(NOD2):c.1317G>A (p.Ala439=)
NM_001370466.1(NOD2):c.1321C>A (p.Arg441Ser) rs769988393
NM_001370466.1(NOD2):c.1331G>A (p.Arg444His)
NM_001370466.1(NOD2):c.1331G>T (p.Arg444Leu) rs764414933
NM_001370466.1(NOD2):c.1335G>A (p.Leu445=)
NM_001370466.1(NOD2):c.1338C>T (p.Leu446=)
NM_001370466.1(NOD2):c.1339C>A (p.Gln447Lys)
NM_001370466.1(NOD2):c.1344G>C (p.Glu448Asp) rs1964484718
NM_001370466.1(NOD2):c.1346C>A (p.Thr449Asn) rs1567392113
NM_001370466.1(NOD2):c.1349C>G (p.Ser450Ter)
NM_001370466.1(NOD2):c.1352C>T (p.Ala451Val) rs2150810483
NM_001370466.1(NOD2):c.1356G>A (p.Leu452=)
NM_001370466.1(NOD2):c.1360G>A (p.Gly454Ser)
NM_001370466.1(NOD2):c.1363T>C (p.Leu455=)
NM_001370466.1(NOD2):c.1367G>A (p.Cys456Tyr)
NM_001370466.1(NOD2):c.1368C>T (p.Cys456=) rs1964487483
NM_001370466.1(NOD2):c.1379T>A (p.Val460Asp) rs1964489081
NM_001370466.1(NOD2):c.1382T>C (p.Phe461Ser)
NM_001370466.1(NOD2):c.1397C>T (p.Ser466Phe)
NM_001370466.1(NOD2):c.1402T>G (p.Cys468Gly) rs2150810748
NM_001370466.1(NOD2):c.1406A>G (p.His469Arg) rs104895472
NM_001370466.1(NOD2):c.1418T>A (p.Leu473Ter) rs1964491198
NM_001370466.1(NOD2):c.1429G>A (p.Gly477Arg)
NM_001370466.1(NOD2):c.1429G>T (p.Gly477Trp)
NM_001370466.1(NOD2):c.1430G>A (p.Gly477Glu)
NM_001370466.1(NOD2):c.1434del (p.Ser479fs) rs754761524
NM_001370466.1(NOD2):c.1434dup (p.Ser479fs) rs754761524
NM_001370466.1(NOD2):c.1441A>G (p.Lys481Glu)
NM_001370466.1(NOD2):c.1445C>A (p.Thr482Asn) rs773580517
NM_001370466.1(NOD2):c.1445C>G (p.Thr482Ser)
NM_001370466.1(NOD2):c.1457T>C (p.Met486Thr) rs104895473
NM_001370466.1(NOD2):c.1462C>T (p.Leu488=) rs1318205250
NM_001370466.1(NOD2):c.1474C>T (p.Gln492Ter) rs1964496675
NM_001370466.1(NOD2):c.1497C>A (p.Thr499=)
NM_001370466.1(NOD2):c.1497C>G (p.Thr499=) rs779950802
NM_001370466.1(NOD2):c.1497C>T (p.Thr499=)
NM_001370466.1(NOD2):c.1499C>A (p.Pro500His)
NM_001370466.1(NOD2):c.1501C>G (p.Pro501Ala)
NM_001370466.1(NOD2):c.1502C>A (p.Pro501Gln) rs773811702
NM_001370466.1(NOD2):c.1503A>G (p.Pro501=) rs1964499560
NM_001370466.1(NOD2):c.1516C>T (p.Gln506Ter)
NM_001370466.1(NOD2):c.1520G>A (p.Gly507Asp)
NM_001370466.1(NOD2):c.1521T>C (p.Gly507=)
NM_001370466.1(NOD2):c.1529C>T (p.Pro510Leu) rs1567392735
NM_001370466.1(NOD2):c.1541G>A (p.Arg514Gln) rs753857915
NM_001370466.1(NOD2):c.1541G>C (p.Arg514Pro)
NM_001370466.1(NOD2):c.1547G>A (p.Arg516His) rs772534917
NM_001370466.1(NOD2):c.154C>T (p.Gln52Ter)
NM_001370466.1(NOD2):c.1553C>T (p.Pro518Leu) rs777949388
NM_001370466.1(NOD2):c.1559T>A (p.Leu520His)
NM_001370466.1(NOD2):c.1559T>C (p.Leu520Pro) rs762186831
NM_001370466.1(NOD2):c.1560C>T (p.Leu520=)
NM_001370466.1(NOD2):c.1564C>A (p.His522Asn) rs1964506383
NM_001370466.1(NOD2):c.1567C>G (p.Leu523Val) rs104895471
NM_001370466.1(NOD2):c.1572C>T (p.Gly524=)
NM_001370466.1(NOD2):c.157C>A (p.Pro53Thr)
NM_001370466.1(NOD2):c.1581T>A (p.Ala527=)
NM_001370466.1(NOD2):c.1589G>T (p.Gly530Val)
NM_001370466.1(NOD2):c.1591_1596del (p.Leu531_Gly532del) rs104895436
NM_001370466.1(NOD2):c.159T>C (p.Pro53=)
NM_001370466.1(NOD2):c.1616C>T (p.Ser539Leu) rs908511039
NM_001370466.1(NOD2):c.162C>T (p.Leu54=) rs1963835517
NM_001370466.1(NOD2):c.1639C>G (p.Gln547Glu) rs1264862631
NM_001370466.1(NOD2):c.1648C>T (p.Pro550Ser)
NM_001370466.1(NOD2):c.1650T>C (p.Pro550=)
NM_001370466.1(NOD2):c.165C>T (p.Ser55=)
NM_001370466.1(NOD2):c.1663C>G (p.Leu555Val)
NM_001370466.1(NOD2):c.1674G>A (p.Leu558=) rs2150811924
NM_001370466.1(NOD2):c.1675G>T (p.Val559Leu)
NM_001370466.1(NOD2):c.168C>T (p.His56=) rs1963835959
NM_001370466.1(NOD2):c.1708G>A (p.Ala570Thr)
NM_001370466.1(NOD2):c.1717G>A (p.Glu573Lys) rs1964520477
NM_001370466.1(NOD2):c.1723C>T (p.Leu575Phe) rs1964520847
NM_001370466.1(NOD2):c.1728C>T (p.His576=)
NM_001370466.1(NOD2):c.1729A>G (p.Ile577Val)
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr) rs104895438
NM_001370466.1(NOD2):c.1753G>T (p.Ala585Ser) rs104895438
NM_001370466.1(NOD2):c.175A>G (p.Arg59Gly)
NM_001370466.1(NOD2):c.1766C>T (p.Ala589Val)
NM_001370466.1(NOD2):c.1767A>T (p.Ala589=) rs1463239348
NM_001370466.1(NOD2):c.176G>A (p.Arg59Lys)
NM_001370466.1(NOD2):c.1822C>T (p.Pro608Ser)
NM_001370466.1(NOD2):c.1827C>T (p.Gly609=)
NM_001370466.1(NOD2):c.1828_1846del (p.Asn610fs) rs745991254
NM_001370466.1(NOD2):c.183T>C (p.Leu61=)
NM_001370466.1(NOD2):c.1843A>G (p.Arg615Gly) rs1964529815
NM_001370466.1(NOD2):c.1846C>T (p.Leu616Phe)
NM_001370466.1(NOD2):c.1851_1852delinsAA (p.Pro618Thr)
NM_001370466.1(NOD2):c.1852C>A (p.Pro618Thr) rs1228502653
NM_001370466.1(NOD2):c.1856C>T (p.Thr619Met)
NM_001370466.1(NOD2):c.1857G>A (p.Thr619=) rs762058298
NM_001370466.1(NOD2):c.185T>C (p.Leu62Pro)
NM_001370466.1(NOD2):c.1863C>G (p.Cys621Trp)
NM_001370466.1(NOD2):c.1864A>C (p.Ile622Leu) rs1484221771
NM_001370466.1(NOD2):c.1869G>A (p.Gln623=)
NM_001370466.1(NOD2):c.186G>A (p.Leu62=) rs1963838182
NM_001370466.1(NOD2):c.1874C>T (p.Ser625Leu)
NM_001370466.1(NOD2):c.1886A>T (p.Asp629Val) rs2150812781
NM_001370466.1(NOD2):c.1891A>G (p.Ser631Gly)
NM_001370466.1(NOD2):c.1893C>T (p.Ser631=)
NM_001370466.1(NOD2):c.1915G>A (p.Ala639Thr)
NM_001370466.1(NOD2):c.1923G>T (p.Pro641=) rs199475914
NM_001370466.1(NOD2):c.1929C>A (p.Asn643Lys) rs104895475
NM_001370466.1(NOD2):c.1938C>G (p.Ile646Met)
NM_001370466.1(NOD2):c.1939A>G (p.Thr647Ala)
NM_001370466.1(NOD2):c.193G>T (p.Val65Phe) rs187264529
NM_001370466.1(NOD2):c.1949T>C (p.Phe650Ser) rs2150813115
NM_001370466.1(NOD2):c.1951C>T (p.Leu651=) rs2150813161
NM_001370466.1(NOD2):c.1976A>C (p.His659Pro)
NM_001370466.1(NOD2):c.2019G>T (p.Leu673=)
NM_001370466.1(NOD2):c.2022C>T (p.Leu674=) rs1459264285
NM_001370466.1(NOD2):c.2026C>G (p.Arg676Gly) rs5743277
NM_001370466.1(NOD2):c.2027G>T (p.Arg676Leu)
NM_001370466.1(NOD2):c.202A>G (p.Lys68Glu) rs2150781997
NM_001370466.1(NOD2):c.2032G>T (p.Ala678Ser)
NM_001370466.1(NOD2):c.2041C>T (p.Arg681Cys)
NM_001370466.1(NOD2):c.2042G>C (p.Arg681Pro)
NM_001370466.1(NOD2):c.2042G>T (p.Arg681Leu) rs35285618
NM_001370466.1(NOD2):c.2066G>T (p.Arg689Leu)
NM_001370466.1(NOD2):c.2067C>T (p.Arg689=)
NM_001370466.1(NOD2):c.2079C>A (p.His693Gln)
NM_001370466.1(NOD2):c.208A>G (p.Thr70Ala)
NM_001370466.1(NOD2):c.2096C>T (p.Ala699Val)
NM_001370466.1(NOD2):c.2098C>T (p.Pro700Ser) rs1338599093
NM_001370466.1(NOD2):c.2099C>A (p.Pro700Gln)
NM_001370466.1(NOD2):c.2100G>C (p.Pro700=)
NM_001370466.1(NOD2):c.2101G>A (p.Gly701Ser) rs1964553940
NM_001370466.1(NOD2):c.2106G>A (p.Glu702=)
NM_001370466.1(NOD2):c.2106G>T (p.Glu702Asp)
NM_001370466.1(NOD2):c.2112G>A (p.Lys704=) rs2150813842
NM_001370466.1(NOD2):c.2114G>A (p.Ser705Asn)
NM_001370466.1(NOD2):c.2115C>A (p.Ser705Arg)
NM_001370466.1(NOD2):c.2115C>T (p.Ser705=)
NM_001370466.1(NOD2):c.2119C>T (p.His707Tyr)
NM_001370466.1(NOD2):c.2123C>T (p.Ala708Val)
NM_001370466.1(NOD2):c.2137A>G (p.Ile713Val)
NM_001370466.1(NOD2):c.2145C>T (p.Leu715=)
NM_001370466.1(NOD2):c.2156T>C (p.Leu719Pro)
NM_001370466.1(NOD2):c.2158T>C (p.Tyr720His) rs2150814130
NM_001370466.1(NOD2):c.2163G>A (p.Glu721=)
NM_001370466.1(NOD2):c.2163G>C (p.Glu721Asp)
NM_001370466.1(NOD2):c.216C>T (p.Ala72=) rs1398956455
NM_001370466.1(NOD2):c.2171A>G (p.Glu724Gly) rs1964561689
NM_001370466.1(NOD2):c.2178G>C (p.Arg726=) rs2150814223
NM_001370466.1(NOD2):c.2186G>T (p.Arg729Leu) rs375713299
NM_001370466.1(NOD2):c.2217C>T (p.His739=) rs767638398
NM_001370466.1(NOD2):c.2223G>A (p.Lys741=) rs1596871165
NM_001370466.1(NOD2):c.2226G>C (p.Leu742Phe) rs1266638330
NM_001370466.1(NOD2):c.222G>A (p.Gln74=)
NM_001370466.1(NOD2):c.2230T>A (p.Phe744Ile)
NM_001370466.1(NOD2):c.2237G>A (p.Ser746Asn)
NM_001370466.1(NOD2):c.2243G>A (p.Gly748Asp)
NM_001370466.1(NOD2):c.2245C>T (p.Pro749Ser) rs1264795843
NM_001370466.1(NOD2):c.2253G>C (p.Glu751Asp)
NM_001370466.1(NOD2):c.2261C>T (p.Ala754Val)
NM_001370466.1(NOD2):c.2267C>G (p.Ala756Gly)
NM_001370466.1(NOD2):c.2268C>T (p.Ala756=) rs1596871480
NM_001370466.1(NOD2):c.2276T>G (p.Leu759Arg) rs2150814646
NM_001370466.1(NOD2):c.2286C>G (p.Leu762=)
NM_001370466.1(NOD2):c.2294C>G (p.Pro765Arg) rs1964571054
NM_001370466.1(NOD2):c.2297T>G (p.Val766Gly) rs1200152449
NM_001370466.1(NOD2):c.2314T>C (p.Tyr772His)
NM_001370466.1(NOD2):c.2323G>A (p.Val775Met) rs1964574298
NM_001370466.1(NOD2):c.2334T>C (p.Ile778=) rs1380472189
NM_001370466.1(NOD2):c.2336G>T (p.Gly779Val) rs2150814954
NM_001370466.1(NOD2):c.2337C>T (p.Gly779=) rs199475916
NM_001370466.1(NOD2):c.234G>C (p.Ala78=) rs104895419
NM_001370466.1(NOD2):c.2363G>T (p.Gly788Val) rs1964577394
NM_001370466.1(NOD2):c.2369G>A (p.Cys790Tyr)
NM_001370466.1(NOD2):c.2381+12T>A
NM_001370466.1(NOD2):c.2382-14T>G rs2150823709
NM_001370466.1(NOD2):c.2388C>A (p.Arg796=) rs757770726
NM_001370466.1(NOD2):c.238_239delinsAG (p.Ala80Ser)
NM_001370466.1(NOD2):c.2413A>G (p.Ile805Val) rs765335094
NM_001370466.1(NOD2):c.2414T>C (p.Ile805Thr) rs2150823869
NM_001370466.1(NOD2):c.2418C>T (p.Cys806=)
NM_001370466.1(NOD2):c.2419A>C (p.Lys807Gln) rs1964807205
NM_001370466.1(NOD2):c.241C>T (p.Gln81Ter)
NM_001370466.1(NOD2):c.2421G>A (p.Lys807=)
NM_001370466.1(NOD2):c.243A>G (p.Gln81=)
NM_001370466.1(NOD2):c.2458_2460del (p.Lys820del) rs2150823997
NM_001370466.1(NOD2):c.2460G>A (p.Lys820=)
NM_001370466.1(NOD2):c.2465+18G>A
NM_001370466.1(NOD2):c.2465+20G>A
NM_001370466.1(NOD2):c.2465+20G>T rs540029486
NM_001370466.1(NOD2):c.2466-11G>A
NM_001370466.1(NOD2):c.2466-12G>A rs2150824449
NM_001370466.1(NOD2):c.2466-6G>A
NM_001370466.1(NOD2):c.2466-8C>A
NM_001370466.1(NOD2):c.2466-8C>G rs1178978578
NM_001370466.1(NOD2):c.2485A>C (p.Thr829Pro)
NM_001370466.1(NOD2):c.2491G>A (p.Gly831Ser)
NM_001370466.1(NOD2):c.2495G>A (p.Cys832Tyr)
NM_001370466.1(NOD2):c.2495dup (p.Cys832fs) rs1555500626
NM_001370466.1(NOD2):c.2501A>C (p.His834Pro) rs763542516
NM_001370466.1(NOD2):c.2509G>C (p.Ala837Pro)
NM_001370466.1(NOD2):c.2515C>G (p.Leu839Val) rs1000799073
NM_001370466.1(NOD2):c.2518C>T (p.Leu840Phe)
NM_001370466.1(NOD2):c.2521G>A (p.Ala841Thr)
NM_001370466.1(NOD2):c.2525G>T (p.Cys842Phe) rs749157324
NM_001370466.1(NOD2):c.2548A>G (p.Arg850Gly)
NM_001370466.1(NOD2):c.2549+8C>T
NM_001370466.1(NOD2):c.2550-16_2550-15del rs762600414
NM_001370466.1(NOD2):c.2557A>T (p.Asn853Tyr)
NM_001370466.1(NOD2):c.255C>A (p.Ala85=) rs770046355
NM_001370466.1(NOD2):c.255C>T (p.Ala85=) rs770046355
NM_001370466.1(NOD2):c.2567T>C (p.Ile856Thr)
NM_001370466.1(NOD2):c.2577G>A (p.Ala859=) rs1417676866
NM_001370466.1(NOD2):c.2585A>C (p.Gln862Pro)
NM_001370466.1(NOD2):c.2586A>C (p.Gln862His) rs764244331
NM_001370466.1(NOD2):c.2590C>G (p.Leu864Val)
NM_001370466.1(NOD2):c.2595C>G (p.Ala865=) rs375012324
NM_001370466.1(NOD2):c.2595C>T (p.Ala865=) rs375012324
NM_001370466.1(NOD2):c.2606G>A (p.Arg869Gln)
NM_001370466.1(NOD2):c.2610C>T (p.Gly870=)
NM_001370466.1(NOD2):c.2624A>G (p.Gln875Arg)
NM_001370466.1(NOD2):c.2625G>T (p.Gln875His) rs200428513
NM_001370466.1(NOD2):c.262C>T (p.Gln88Ter) rs2150782258
NM_001370466.1(NOD2):c.2633+12T>C
NM_001370466.1(NOD2):c.2633+17_2633+20del
NM_001370466.1(NOD2):c.2633+20G>A
NM_001370466.1(NOD2):c.2633+3A>C rs767535551
NM_001370466.1(NOD2):c.2633+7T>C
NM_001370466.1(NOD2):c.2634-15T>C
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys) rs2066845
NM_001370466.1(NOD2):c.2647A>G (p.Arg883Gly)
NM_001370466.1(NOD2):c.2648G>C (p.Arg883Thr) rs1354091032
NM_001370466.1(NOD2):c.2649A>G (p.Arg883=)
NM_001370466.1(NOD2):c.2652G>A (p.Val884=) rs1359941511
NM_001370466.1(NOD2):c.2665G>A (p.Ala889Thr)
NM_001370466.1(NOD2):c.2671G>T (p.Ala891Ser) rs769395722
NM_001370466.1(NOD2):c.2676G>A (p.Leu892=)
NM_001370466.1(NOD2):c.2677G>T (p.Ala893Ser)
NM_001370466.1(NOD2):c.2689G>A (p.Gly897Ser) rs2150833269
NM_001370466.1(NOD2):c.2697C>G (p.His899Gln) rs1242042498
NM_001370466.1(NOD2):c.2709G>A (p.Arg903=) rs139886679
NM_001370466.1(NOD2):c.2717+18T>C
NM_001370466.1(NOD2):c.2718-11A>T
NM_001370466.1(NOD2):c.2718-13_2718-9del
NM_001370466.1(NOD2):c.2718-14A>G
NM_001370466.1(NOD2):c.2726G>A (p.Gly909Glu) rs542558237
NM_001370466.1(NOD2):c.2737G>A (p.Gly913Ser)
NM_001370466.1(NOD2):c.2752C>T (p.Gln918Ter) rs1394622344
NM_001370466.1(NOD2):c.2767A>G (p.Met923Val) rs527892258
NM_001370466.1(NOD2):c.2769G>T (p.Met923Ile)
NM_001370466.1(NOD2):c.2770C>T (p.Leu924=)
NM_001370466.1(NOD2):c.2801+17C>A rs1193867802
NM_001370466.1(NOD2):c.2801+19C>T
NM_001370466.1(NOD2):c.2801+9G>T
NM_001370466.1(NOD2):c.2802-16C>T
NM_001370466.1(NOD2):c.2802-8C>G
NM_001370466.1(NOD2):c.2802-9T>A rs750873269
NM_001370466.1(NOD2):c.2807A>G (p.Glu936Gly) rs1555501675
NM_001370466.1(NOD2):c.282C>A (p.Gly94=)
NM_001370466.1(NOD2):c.2831G>A (p.Gly944Asp) rs1187029221
NM_001370466.1(NOD2):c.2831G>C (p.Gly944Ala)
NM_001370466.1(NOD2):c.2833G>A (p.Val945Ile) rs104895455
NM_001370466.1(NOD2):c.2837G>A (p.Cys946Tyr)
NM_001370466.1(NOD2):c.2840C>G (p.Ser947Cys)
NM_001370466.1(NOD2):c.2842C>G (p.Leu948Val) rs1337759230
NM_001370466.1(NOD2):c.2856G>A (p.Leu952=)
NM_001370466.1(NOD2):c.2859G>A (p.Lys953=)
NM_001370466.1(NOD2):c.2878A>T (p.Ile960Phe) rs2150836993
NM_001370466.1(NOD2):c.2881C>T (p.Leu961=) rs1596908135
NM_001370466.1(NOD2):c.2885+10C>G
NM_001370466.1(NOD2):c.2885+12A>G rs751255487
NM_001370466.1(NOD2):c.2885+19G>A
NM_001370466.1(NOD2):c.2886-12C>T
NM_001370466.1(NOD2):c.2886-17T>C rs757094587
NM_001370466.1(NOD2):c.2886G>A (p.Lys962=) rs1965389837
NM_001370466.1(NOD2):c.2906C>T (p.Thr969Ile) rs1567407613
NM_001370466.1(NOD2):c.2915G>C (p.Gly972Ala) rs1238071864
NM_001370466.1(NOD2):c.2917del (p.Ala973fs)
NM_001370466.1(NOD2):c.292C>T (p.Pro98Ser) rs1963848568
NM_001370466.1(NOD2):c.2944A>G (p.Arg982Gly) rs771490210
NM_001370466.1(NOD2):c.2948A>G (p.Asn983Ser)
NM_001370466.1(NOD2):c.294C>G (p.Pro98=)
NM_001370466.1(NOD2):c.2957T>C (p.Ile986Thr) rs2150843373
NM_001370466.1(NOD2):c.2959C>T (p.Leu987=)
NM_001370466.1(NOD2):c.295C>A (p.His99Asn)
NM_001370466.1(NOD2):c.2969+13G>A
NM_001370466.1(NOD2):c.2969+14G>A rs2150843410
NM_001370466.1(NOD2):c.2969+15C>A
NM_001370466.1(NOD2):c.2974C>G (p.Arg992Gly) rs104895491
NM_001370466.1(NOD2):c.2975G>A (p.Arg992Gln) rs5743295
NM_001370466.1(NOD2):c.2975G>T (p.Arg992Leu) rs5743295
NM_001370466.1(NOD2):c.2985T>C (p.Thr995=)
NM_001370466.1(NOD2):c.29A>G (p.Gln10Arg)
NM_001370466.1(NOD2):c.3001G>A (p.Val1001Ile) rs1340958111
NM_001370466.1(NOD2):c.3002T>C (p.Val1001Ala)
NM_001370466.1(NOD2):c.300G>T (p.Ser100=)
NM_001370466.1(NOD2):c.3022G>A (p.Asp1008Asn) rs2150846563
NM_001370466.1(NOD2):c.3036G>T (p.Leu1012Phe)
NM_001370466.1(NOD2):c.3037C>A (p.Leu1013Ile)
NM_001370466.1(NOD2):c.309A>G (p.Pro103=) rs2150782456
NM_001370466.1(NOD2):c.31A>G (p.Arg11Gly) rs903928432
NM_001370466.1(NOD2):c.325_326del (p.His110fs) rs1567381106
NM_001370466.1(NOD2):c.357C>T (p.His119=)
NM_001370466.1(NOD2):c.35G>A (p.Ser12Asn) rs1567380395
NM_001370466.1(NOD2):c.373A>G (p.Met125Val) rs2150782623
NM_001370466.1(NOD2):c.375G>T (p.Met125Ile)
NM_001370466.1(NOD2):c.376_377insA (p.Leu126fs)
NM_001370466.1(NOD2):c.383T>A (p.Leu128Gln)
NM_001370466.1(NOD2):c.383T>G (p.Leu128Arg) rs148753593
NM_001370466.1(NOD2):c.397G>A (p.Gly133Ser)
NM_001370466.1(NOD2):c.399T>A (p.Gly133=)
NM_001370466.1(NOD2):c.39G>A (p.Gln13=)
NM_001370466.1(NOD2):c.40C>G (p.Leu14Val) rs761191478
NM_001370466.1(NOD2):c.418T>G (p.Cys140Gly)
NM_001370466.1(NOD2):c.425A>G (p.Glu142Gly)
NM_001370466.1(NOD2):c.43G>C (p.Val15Leu) rs1963826129
NM_001370466.1(NOD2):c.444C>T (p.Phe148=)
NM_001370466.1(NOD2):c.448C>G (p.Pro150Ala) rs1356803976
NM_001370466.1(NOD2):c.452_453delinsTG (p.Ser151Leu)
NM_001370466.1(NOD2):c.458G>A (p.Arg153Lys) rs1259750235
NM_001370466.1(NOD2):c.459+17G>A rs761704372
NM_001370466.1(NOD2):c.459+17G>C
NM_001370466.1(NOD2):c.459+1G>A rs1425704084
NM_001370466.1(NOD2):c.459+3G>T rs1384904015
NM_001370466.1(NOD2):c.476A>G (p.Asp159Gly)
NM_001370466.1(NOD2):c.477T>C (p.Asp159=) rs1964270177
NM_001370466.1(NOD2):c.497A>G (p.Asn166Ser) rs1964272038
NM_001370466.1(NOD2):c.509C>T (p.Ala170Val)
NM_001370466.1(NOD2):c.525T>C (p.His175=)
NM_001370466.1(NOD2):c.529C>T (p.Gln177Ter)
NM_001370466.1(NOD2):c.545C>A (p.Pro182Gln)
NM_001370466.1(NOD2):c.54G>A (p.Leu18=)
NM_001370466.1(NOD2):c.550G>T (p.Ala184Ser) rs771887760
NM_001370466.1(NOD2):c.553C>T (p.Leu185=) rs760629717
NM_001370466.1(NOD2):c.561G>A (p.Leu187=)
NM_001370466.1(NOD2):c.565+18G>A
NM_001370466.1(NOD2):c.565+7G>A
NM_001370466.1(NOD2):c.573A>T (p.Thr191=) rs778455499
NM_001370466.1(NOD2):c.578A>G (p.Lys193Arg)
NM_001370466.1(NOD2):c.62G>C (p.Gly21Ala) rs758548184
NM_001370466.1(NOD2):c.631A>T (p.Ser211Cys) rs1001861018
NM_001370466.1(NOD2):c.664G>A (p.Glu222Lys)
NM_001370466.1(NOD2):c.667G>A (p.Asp223Asn)
NM_001370466.1(NOD2):c.670A>G (p.Ile224Val)
NM_001370466.1(NOD2):c.676A>G (p.Thr226Ala)
NM_001370466.1(NOD2):c.678A>G (p.Thr226=)
NM_001370466.1(NOD2):c.699G>C (p.Trp233Cys)
NM_001370466.1(NOD2):c.706G>A (p.Val236Met) rs756042160
NM_001370466.1(NOD2):c.70G>T (p.Glu24Ter)
NM_001370466.1(NOD2):c.712A>T (p.Met238Leu) rs1964425967
NM_001370466.1(NOD2):c.715del (p.Ala239fs) rs772914954
NM_001370466.1(NOD2):c.721C>G (p.Pro241Ala)
NM_001370466.1(NOD2):c.725C>T (p.Pro242Leu)
NM_001370466.1(NOD2):c.726G>C (p.Pro242=) rs369766454
NM_001370466.1(NOD2):c.732G>A (p.Lys244=)
NM_001370466.1(NOD2):c.745C>G (p.Leu249Val)
NM_001370466.1(NOD2):c.747G>A (p.Leu249=) rs763504952
NM_001370466.1(NOD2):c.758A>G (p.Glu253Gly)
NM_001370466.1(NOD2):c.765C>T (p.Phe255=)
NM_001370466.1(NOD2):c.77T>C (p.Phe26Ser)
NM_001370466.1(NOD2):c.781del (p.Leu261fs) rs1964431434
NM_001370466.1(NOD2):c.782T>C (p.Leu261Pro)
NM_001370466.1(NOD2):c.794C>A (p.Ala265Glu) rs149338478
NM_001370466.1(NOD2):c.795G>A (p.Ala265=)
NM_001370466.1(NOD2):c.79G>A (p.Glu27Lys)
NM_001370466.1(NOD2):c.802G>A (p.Val268Met)
NM_001370466.1(NOD2):c.807G>C (p.Leu269=)
NM_001370466.1(NOD2):c.807G>T (p.Leu269=) rs375002962
NM_001370466.1(NOD2):c.809dup (p.Val271fs)
NM_001370466.1(NOD2):c.817G>T (p.Glu273Ter)
NM_001370466.1(NOD2):c.822G>A (p.Ala274=)
NM_001370466.1(NOD2):c.824del (p.Gly275fs) rs2150808087
NM_001370466.1(NOD2):c.834G>A (p.Lys278=)
NM_001370466.1(NOD2):c.856C>T (p.His286Tyr) rs1462834850
NM_001370466.1(NOD2):c.868dup (p.Ala290fs) rs2150808264
NM_001370466.1(NOD2):c.873A>C (p.Ala291=) rs199951979
NM_001370466.1(NOD2):c.882C>T (p.Asp294=)
NM_001370466.1(NOD2):c.891A>G (p.Glu297=)
NM_001370466.1(NOD2):c.899_900del (p.Phe300fs)
NM_001370466.1(NOD2):c.8C>G (p.Ser3Trp) rs768775316
NM_001370466.1(NOD2):c.8C>T (p.Ser3Leu) rs768775316
NM_001370466.1(NOD2):c.903C>T (p.Val301=)
NM_001370466.1(NOD2):c.909A>G (p.Pro303=)
NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp) rs104895462
NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln) rs104895461
NM_001370466.1(NOD2):c.920G>C (p.Arg307Pro)
NM_001370466.1(NOD2):c.938C>G (p.Ala313Gly) rs774016655
NM_001370466.1(NOD2):c.948C>G (p.Leu316=)
NM_001370466.1(NOD2):c.953T>C (p.Val318Ala)
NM_001370466.1(NOD2):c.963A>G (p.Leu321=) rs2150808670
NM_001370466.1(NOD2):c.973C>T (p.His325Tyr)
NM_001370466.1(NOD2):c.979T>C (p.Cys327Arg)
NM_001370466.1(NOD2):c.989A>G (p.Asp330Gly) rs104895469
NM_001370466.1(NOD2):c.992T>G (p.Val331Gly) rs2150808820
NM_001370466.1(NOD2):c.995G>A (p.Gly332Asp)
NM_001370466.1(NOD2):c.9G>A (p.Ser3=) rs774491311
NM_001370466.1(NOD2):c.9G>T (p.Ser3=) rs774491311
NM_001372051.1(CASP8):c.1012T>C (p.Ser338Pro) rs771197994
NM_001372051.1(CASP8):c.102G>A (p.Lys34=) rs760545881
NM_001372051.1(CASP8):c.1041C>A (p.Ser347=)
NM_001372051.1(CASP8):c.1042C>G (p.Leu348Val)
NM_001372051.1(CASP8):c.1057A>G (p.Lys353Glu)
NM_001372051.1(CASP8):c.1071T>A (p.Ile357=)
NM_001372051.1(CASP8):c.1103G>C (p.Gly368Ala) rs758525204
NM_001372051.1(CASP8):c.1104T>C (p.Gly368=) rs1949494032
NM_001372051.1(CASP8):c.1109C>T (p.Pro370Leu) rs2125485864
NM_001372051.1(CASP8):c.1118C>T (p.Thr373Ile) rs2125486142
NM_001372051.1(CASP8):c.112A>G (p.Ile38Val)
NM_001372051.1(CASP8):c.1161A>C (p.Ser387=) rs887917071
NM_001372051.1(CASP8):c.1170G>A (p.Thr390=) rs539029508
NM_001372051.1(CASP8):c.1175A>G (p.Tyr392Cys)
NM_001372051.1(CASP8):c.1197T>C (p.Phe399=)
NM_001372051.1(CASP8):c.1198C>A (p.Leu400Met) rs2125488841
NM_001372051.1(CASP8):c.1200G>A (p.Leu400=) rs1949499954
NM_001372051.1(CASP8):c.1200_1201delinsTT (p.Leu400_Leu401=)
NM_001372051.1(CASP8):c.1211C>G (p.Ala404Gly) rs2125489288
NM_001372051.1(CASP8):c.1264A>C (p.Ile422Leu)
NM_001372051.1(CASP8):c.1292A>T (p.Glu431Val) rs2125491805
NM_001372051.1(CASP8):c.1294C>T (p.Arg432Ter)
NM_001372051.1(CASP8):c.1304+2T>C rs768000891
NM_001372051.1(CASP8):c.1304G>A (p.Arg435Gln)
NM_001372051.1(CASP8):c.1305-7A>G
NM_001372051.1(CASP8):c.1322C>T (p.Thr441Ile)
NM_001372051.1(CASP8):c.1349_1352del (p.Val450fs)
NM_001372051.1(CASP8):c.1378G>T (p.Gly460Trp)
NM_001372051.1(CASP8):c.1380G>C (p.Gly460=) rs2125511554
NM_001372051.1(CASP8):c.1383A>G (p.Lys461=) rs2125511633
NM_001372051.1(CASP8):c.1415A>G (p.Lys472Arg)
NM_001372051.1(CASP8):c.155G>A (p.Arg52Lys)
NM_001372051.1(CASP8):c.159G>C (p.Met53Ile) rs200261147
NM_001372051.1(CASP8):c.174T>C (p.Asn58=)
NM_001372051.1(CASP8):c.198C>T (p.Leu66=)
NM_001372051.1(CASP8):c.202C>T (p.Arg68Ter) rs777784105
NM_001372051.1(CASP8):c.23A>G (p.Tyr8Cys) rs895052255
NM_001372051.1(CASP8):c.244A>G (p.Arg82Gly)
NM_001372051.1(CASP8):c.25G>A (p.Asp9Asn)
NM_001372051.1(CASP8):c.262A>G (p.Arg88Gly)
NM_001372051.1(CASP8):c.26A>G (p.Asp9Gly) rs1270676492
NM_001372051.1(CASP8):c.293T>G (p.Ile98Ser)
NM_001372051.1(CASP8):c.305+14_305+19del
NM_001372051.1(CASP8):c.305+16del
NM_001372051.1(CASP8):c.305+18T>C
NM_001372051.1(CASP8):c.306-1892T>A
NM_001372051.1(CASP8):c.306-1926A>G rs1252394250
NM_001372051.1(CASP8):c.306-1930dup
NM_001372051.1(CASP8):c.306-1949_306-1947delinsC rs765672355
NM_001372051.1(CASP8):c.306-1954C>G rs988514241
NM_001372051.1(CASP8):c.306-1954_306-1953del
NM_001372051.1(CASP8):c.306-1971A>G rs1559354162
NM_001372051.1(CASP8):c.306-1974C>A
NM_001372051.1(CASP8):c.306-1976del
NM_001372051.1(CASP8):c.306-1978G>T
NM_001372051.1(CASP8):c.306-1981del rs776712453
NM_001372051.1(CASP8):c.306-1990A>G
NM_001372051.1(CASP8):c.306-1992G>A
NM_001372051.1(CASP8):c.306-2000C>T
NM_001372051.1(CASP8):c.306-2006G>A
NM_001372051.1(CASP8):c.306-2012T>C rs2125202817
NM_001372051.1(CASP8):c.306-2015C>G rs2125202731
NM_001372051.1(CASP8):c.306-2018G>A
NM_001372051.1(CASP8):c.306-2020T>C rs1175184402
NM_001372051.1(CASP8):c.306-4A>C
NM_001372051.1(CASP8):c.306G>A (p.Arg102=)
NM_001372051.1(CASP8):c.315C>T (p.Leu105=)
NM_001372051.1(CASP8):c.323T>C (p.Ile108Thr)
NM_001372051.1(CASP8):c.329AAG[1] (p.Glu111del) rs763516126
NM_001372051.1(CASP8):c.330A>G (p.Glu110=)
NM_001372051.1(CASP8):c.33G>A (p.Gly11=)
NM_001372051.1(CASP8):c.342A>T (p.Arg114Ser)
NM_001372051.1(CASP8):c.348A>G (p.Glu116=) rs1948247221
NM_001372051.1(CASP8):c.367C>A (p.Leu123Ile)
NM_001372051.1(CASP8):c.397C>G (p.Leu133Val) rs1576325415
NM_001372051.1(CASP8):c.401A>T (p.Asp134Val) rs2125234946
NM_001372051.1(CASP8):c.411+17T>C
NM_001372051.1(CASP8):c.412-10C>T
NM_001372051.1(CASP8):c.412-16T>G rs1559357686
NM_001372051.1(CASP8):c.412-18del
NM_001372051.1(CASP8):c.412-7C>G
NM_001372051.1(CASP8):c.412-9T>G
NM_001372051.1(CASP8):c.415C>A (p.Leu139Met) rs1948345294
NM_001372051.1(CASP8):c.426T>C (p.Ile142=)
NM_001372051.1(CASP8):c.429_430insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGAAGCTCCCAAGATGACTACCTCCAGCCTCTGGCCACAGGGAACCTTCTTCATATCCCACAAGCAAAGGAGCTGGATATTTTC (p.Phe143_Ile144insPhePhePhePhePhePheXaaXaaXaaXaaGlySerSerGlnAspAspTyrLeuGlnProLeuAlaThrGlyAsnLeuLeuHisIleProGlnAlaLysGluLeuAspIlePhe)
NM_001372051.1(CASP8):c.43G>A (p.Asp15Asn) rs1947837560
NM_001372051.1(CASP8):c.455T>G (p.Leu152Arg)
NM_001372051.1(CASP8):c.474C>T (p.Asp158=)
NM_001372051.1(CASP8):c.480G>C (p.Leu160=) rs2125255316
NM_001372051.1(CASP8):c.483A>G (p.Lys161=)
NM_001372051.1(CASP8):c.485G>T (p.Arg162Ile)
NM_001372051.1(CASP8):c.48T>A (p.Ser16Arg) rs1401364865
NM_001372051.1(CASP8):c.491G>T (p.Cys164Phe)
NM_001372051.1(CASP8):c.492_493del (p.Ala165fs)
NM_001372051.1(CASP8):c.495C>T (p.Ala165=)
NM_001372051.1(CASP8):c.505A>C (p.Lys169Gln)
NM_001372051.1(CASP8):c.509G>A (p.Ser170Asn)
NM_001372051.1(CASP8):c.519G>C (p.Lys173Asn) rs1268336616
NM_001372051.1(CASP8):c.519G>T (p.Lys173Asn)
NM_001372051.1(CASP8):c.520A>G (p.Ile174Val) rs1042533208
NM_001372051.1(CASP8):c.550+11C>G rs1559358136
NM_001372051.1(CASP8):c.550+17A>G
NM_001372051.1(CASP8):c.550+20C>T
NM_001372051.1(CASP8):c.550+3A>G
NM_001372051.1(CASP8):c.607T>A (p.Cys203Ser) rs2125291868
NM_001372051.1(CASP8):c.615A>G (p.Val205=)
NM_001372051.1(CASP8):c.618G>C (p.Met206Ile)
NM_001372051.1(CASP8):c.633T>G (p.Ser211=)
NM_001372051.1(CASP8):c.637A>G (p.Arg213Gly) rs2125292256
NM_001372051.1(CASP8):c.651T>G (p.Ser217Arg) rs2125292466
NM_001372051.1(CASP8):c.655T>G (p.Ser219Ala)
NM_001372051.1(CASP8):c.659A>G (p.Gln220Arg) rs1948529448
NM_001372051.1(CASP8):c.661-18T>C
NM_001372051.1(CASP8):c.663T>G (p.Thr221=) rs2125318525
NM_001372051.1(CASP8):c.673G>C (p.Val225Leu) rs2125318792
NM_001372051.1(CASP8):c.679C>T (p.Gln227Ter)
NM_001372051.1(CASP8):c.68A>G (p.Lys23Arg)
NM_001372051.1(CASP8):c.697C>G (p.Arg233Gly)
NM_001372051.1(CASP8):c.701G>A (p.Gly234Glu) rs1390728717
NM_001372051.1(CASP8):c.706T>C (p.Cys236Arg)
NM_001372051.1(CASP8):c.709C>G (p.Leu237Val) rs1948665527
NM_001372051.1(CASP8):c.749A>G (p.Lys250Arg)
NM_001372051.1(CASP8):c.761T>G (p.Leu254Arg) rs1576347035
NM_001372051.1(CASP8):c.775G>A (p.Asp259Asn) rs573893736
NM_001372051.1(CASP8):c.777C>T (p.Asp259=) rs1576347142
NM_001372051.1(CASP8):c.799G>A (p.Ala267Thr) rs2125321684
NM_001372051.1(CASP8):c.802+7T>A
NM_001372051.1(CASP8):c.802+7T>C
NM_001372051.1(CASP8):c.803-10C>T
NM_001372051.1(CASP8):c.808T>C (p.Leu270=)
NM_001372051.1(CASP8):c.812C>G (p.Thr271Ser) rs1553607264
NM_001372051.1(CASP8):c.815C>A (p.Thr272Lys)
NM_001372051.1(CASP8):c.815C>G (p.Thr272Arg) rs139337151
NM_001372051.1(CASP8):c.824A>G (p.Glu275Gly)
NM_001372051.1(CASP8):c.828G>A (p.Glu276=)
NM_001372051.1(CASP8):c.853G>A (p.Asp285Asn) rs1045485
NM_001372051.1(CASP8):c.853G>C (p.Asp285His) rs1045485
NM_001372051.1(CASP8):c.864A>G (p.Thr288=) rs1050673165
NM_001372051.1(CASP8):c.867A>G (p.Val289=)
NM_001372051.1(CASP8):c.879T>A (p.Tyr293Ter) rs1457092267
NM_001372051.1(CASP8):c.883A>G (p.Ile295Val) rs979257464
NM_001372051.1(CASP8):c.896A>C (p.Tyr299Ser) rs1389538802
NM_001372051.1(CASP8):c.901C>A (p.Leu301Ile)
NM_001372051.1(CASP8):c.912C>T (p.His304=)
NM_001372051.1(CASP8):c.918del (p.Asn306fs)
NM_001372051.1(CASP8):c.91C>T (p.Pro31Ser) rs1559350009
NM_001372051.1(CASP8):c.920T>G (p.Met307Arg)
NM_001372051.1(CASP8):c.927C>T (p.Cys309=)
NM_001372051.1(CASP8):c.93G>A (p.Pro31=) rs772151801
NM_001372051.1(CASP8):c.940A>G (p.Ile314Val) rs2125482048
NM_001372051.1(CASP8):c.948C>G (p.Ser316=)
NM_001372051.1(CASP8):c.957C>T (p.Asp319=) rs2125482288
NM_001372051.1(CASP8):c.959A>C (p.Lys320Thr) rs2125482312
NM_001372051.1(CASP8):c.971A>T (p.Tyr324Phe) rs1949486267
NM_001372051.1(CASP8):c.978T>A (p.Thr326=)
NM_001372051.1(CASP8):c.983dup (p.Gln329fs)
NM_001372051.1(CASP8):c.994C>T (p.Pro332Ser) rs779065011
NM_001372051.1(CASP8):c.99G>T (p.Arg33Ser)
NM_005214.5(CTLA4):c.109+1G>A rs606231421
NM_005214.5(CTLA4):c.109+1G>T rs606231421
NM_005214.5(CTLA4):c.110-16G>T
NM_005214.5(CTLA4):c.110-1G>A
NM_005214.5(CTLA4):c.110-4C>G
NM_005214.5(CTLA4):c.110-7A>T
NM_005214.5(CTLA4):c.115_139delinsGAAAA (p.His39fs) rs1688711686
NM_005214.5(CTLA4):c.118G>A (p.Val40Met) rs1553657378
NM_005214.5(CTLA4):c.137T>C (p.Val46Ala) rs2105775135
NM_005214.5(CTLA4):c.141G>A (p.Leu47=) rs776726776
NM_005214.5(CTLA4):c.143C>A (p.Ala48Asp)
NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter) rs606231417
NM_005214.5(CTLA4):c.154G>A (p.Gly52Ser)
NM_005214.5(CTLA4):c.155G>T (p.Gly52Val) rs1688712533
NM_005214.5(CTLA4):c.159C>T (p.Ile53=) rs765325921
NM_005214.5(CTLA4):c.160G>A (p.Ala54Thr) rs1553657387
NM_005214.5(CTLA4):c.160G>C (p.Ala54Pro)
NM_005214.5(CTLA4):c.164G>A (p.Ser55Asn)
NM_005214.5(CTLA4):c.173G>C (p.Cys58Ser) rs1581573671
NM_005214.5(CTLA4):c.173G>T (p.Cys58Phe)
NM_005214.5(CTLA4):c.177G>A (p.Glu59=) rs1581573676
NM_005214.5(CTLA4):c.180T>C (p.Tyr60=)
NM_005214.5(CTLA4):c.188C>T (p.Pro63Leu)
NM_005214.5(CTLA4):c.194A>G (p.Lys65Arg)
NM_005214.5(CTLA4):c.198C>A (p.Ala66=) rs979522213
NM_005214.5(CTLA4):c.205G>A (p.Val69Ile)
NM_005214.5(CTLA4):c.208C>T (p.Arg70Trp) rs606231422
NM_005214.5(CTLA4):c.211del (p.Arg70_Val71insTer) rs1559591695
NM_005214.5(CTLA4):c.213G>C (p.Val71=) rs1688713996
NM_005214.5(CTLA4):c.216dup (p.Val73fs)
NM_005214.5(CTLA4):c.223C>A (p.Arg75=)
NM_005214.5(CTLA4):c.224G>A (p.Arg75Gln) rs1196646336
NM_005214.5(CTLA4):c.226C>T (p.Gln76Ter) rs1688714490
NM_005214.5(CTLA4):c.229G>A (p.Ala77Thr)
NM_005214.5(CTLA4):c.238C>G (p.Gln80Glu)
NM_005214.5(CTLA4):c.238C>T (p.Gln80Ter) rs1688714703
NM_005214.5(CTLA4):c.23G>T (p.Arg8Leu)
NM_005214.5(CTLA4):c.246T>C (p.Thr82=)
NM_005214.5(CTLA4):c.254G>A (p.Cys85Tyr) rs2105775283
NM_005214.5(CTLA4):c.254G>C (p.Cys85Ser)
NM_005214.5(CTLA4):c.255T>G (p.Cys85Trp) rs1688715115
NM_005214.5(CTLA4):c.257C>G (p.Ala86Gly) rs376038796
NM_005214.5(CTLA4):c.258G>A (p.Ala86=)
NM_005214.5(CTLA4):c.260del (p.Ala87fs) rs1688715336
NM_005214.5(CTLA4):c.263C>A (p.Thr88Asn)
NM_005214.5(CTLA4):c.266A>G (p.Tyr89Cys) rs1559591751
NM_005214.5(CTLA4):c.272T>G (p.Met91Arg) rs1065442
NM_005214.5(CTLA4):c.288C>T (p.Thr96=)
NM_005214.5(CTLA4):c.295G>C (p.Asp99His)
NM_005214.5(CTLA4):c.300T>C (p.Asp100=)
NM_005214.5(CTLA4):c.304A>G (p.Ile102Val)
NM_005214.5(CTLA4):c.308G>A (p.Cys103Tyr)
NM_005214.5(CTLA4):c.309C>T (p.Cys103=) rs1291592984
NM_005214.5(CTLA4):c.30G>A (p.Lys10=) rs1688657524
NM_005214.5(CTLA4):c.312G>C (p.Thr104=)
NM_005214.5(CTLA4):c.315C>T (p.Gly105=)
NM_005214.5(CTLA4):c.325G>A (p.Gly109Arg)
NM_005214.5(CTLA4):c.344C>T (p.Thr115Ile)
NM_005214.5(CTLA4):c.345T>C (p.Thr115=) rs2105775415
NM_005214.5(CTLA4):c.349C>T (p.Gln117Ter) rs1688716836
NM_005214.5(CTLA4):c.352G>A (p.Gly118Arg) rs764089901
NM_005214.5(CTLA4):c.356T>A (p.Leu119Gln)
NM_005214.5(CTLA4):c.364A>G (p.Met122Val)
NM_005214.5(CTLA4):c.370A>C (p.Thr124Pro)
NM_005214.5(CTLA4):c.370A>T (p.Thr124Ser) rs1286462906
NM_005214.5(CTLA4):c.373G>A (p.Gly125Arg) rs1553657427
NM_005214.5(CTLA4):c.374G>A (p.Gly125Glu) rs1553657428
NM_005214.5(CTLA4):c.37_53del (p.Leu13fs) rs1581571813
NM_005214.5(CTLA4):c.380A>G (p.Tyr127Cys) rs1688717498
NM_005214.5(CTLA4):c.385T>A (p.Cys129Ser) rs2105775473
NM_005214.5(CTLA4):c.390G>A (p.Lys130=)
NM_005214.5(CTLA4):c.394G>A (p.Glu132Lys) rs1581573888
NM_005214.5(CTLA4):c.397C>A (p.Leu133Ile) rs1688717773
NM_005214.5(CTLA4):c.400A>G (p.Met134Val)
NM_005214.5(CTLA4):c.410C>A (p.Pro137Gln) rs1553657429
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) rs1553657429
NM_005214.5(CTLA4):c.412C>A (p.Pro138Thr) rs1553657430
NM_005214.5(CTLA4):c.413C>T (p.Pro138Leu)
NM_005214.5(CTLA4):c.415T>C (p.Tyr139His)
NM_005214.5(CTLA4):c.416A>C (p.Tyr139Ser) rs1581573923
NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys) rs1581573923
NM_005214.5(CTLA4):c.417C>T (p.Tyr139=) rs2105775510
NM_005214.5(CTLA4):c.420C>A (p.Tyr140Ter) rs1357409506
NM_005214.5(CTLA4):c.420C>T (p.Tyr140=)
NM_005214.5(CTLA4):c.421C>T (p.Leu141=) rs752339954
NM_005214.5(CTLA4):c.422T>C (p.Leu141Pro) rs1357774202
NM_005214.5(CTLA4):c.430G>A (p.Gly144Ser)
NM_005214.5(CTLA4):c.430G>T (p.Gly144Cys) rs1559591850
NM_005214.5(CTLA4):c.432C>T (p.Gly144=) rs2105775528
NM_005214.5(CTLA4):c.436G>A (p.Gly146Arg) rs1688718864
NM_005214.5(CTLA4):c.436_437delinsCT (p.Gly146Leu) rs1559591863
NM_005214.5(CTLA4):c.439A>G (p.Thr147Ala) rs1466152724
NM_005214.5(CTLA4):c.450T>G (p.Tyr150Ter)
NM_005214.5(CTLA4):c.455T>C (p.Ile152Thr) rs1688719095
NM_005214.5(CTLA4):c.456T>A (p.Ile152=) rs1242260236
NM_005214.5(CTLA4):c.457+12C>A
NM_005214.5(CTLA4):c.457+13A>G
NM_005214.5(CTLA4):c.457+4A>G rs1553657438
NM_005214.5(CTLA4):c.457+6C>G rs1688719278
NM_005214.5(CTLA4):c.457G>T (p.Asp153Tyr)
NM_005214.5(CTLA4):c.458-19G>A
NM_005214.5(CTLA4):c.458-1G>C rs1688729428
NM_005214.5(CTLA4):c.458-1G>T rs1688729428
NM_005214.5(CTLA4):c.460C>A (p.Pro154Thr)
NM_005214.5(CTLA4):c.463G>A (p.Glu155Lys) rs2105775980
NM_005214.5(CTLA4):c.482A>C (p.Asp161Ala) rs2105776000
NM_005214.5(CTLA4):c.487C>G (p.Leu163Val) rs1581574315
NM_005214.5(CTLA4):c.487C>T (p.Leu163Phe)
NM_005214.5(CTLA4):c.494G>A (p.Trp165Ter)
NM_005214.5(CTLA4):c.4_5insGTTGG (p.Ala2fs) rs1688656690
NM_005214.5(CTLA4):c.506C>A (p.Ala169Glu)
NM_005214.5(CTLA4):c.50C>T (p.Thr17Ile)
NM_005214.5(CTLA4):c.519GTT[1] (p.Leu174del)
NM_005214.5(CTLA4):c.522del (p.Leu174fs) rs2105776035
NM_005214.5(CTLA4):c.524T>A (p.Phe175Tyr)
NM_005214.5(CTLA4):c.529dup (p.Tyr177fs) rs1688731180
NM_005214.5(CTLA4):c.531T>A (p.Tyr177Ter) rs1688731278
NM_005214.5(CTLA4):c.538C>A (p.Leu180Ile)
NM_005214.5(CTLA4):c.543C>T (p.Leu181=)
NM_005214.5(CTLA4):c.567+1G>A rs1553657487
NM_005214.5(CTLA4):c.567+3G>A rs1688732320
NM_005214.5(CTLA4):c.567+5G>A
NM_005214.5(CTLA4):c.567G>A (p.Met189Ile) rs1688732243
NM_005214.5(CTLA4):c.568-13T>G
NM_005214.5(CTLA4):c.568-16T>C
NM_005214.5(CTLA4):c.568C>T (p.Leu190=)
NM_005214.5(CTLA4):c.56C>T (p.Thr19Ile)
NM_005214.5(CTLA4):c.588T>C (p.Leu196=)
NM_005214.5(CTLA4):c.596G>A (p.Gly199Glu) rs2105777131
NM_005214.5(CTLA4):c.597G>T (p.Gly199=)
NM_005214.5(CTLA4):c.598G>T (p.Val200Phe) rs1046533169
NM_005214.5(CTLA4):c.624G>A (p.Glu208=)
NM_005214.5(CTLA4):c.625C>G (p.Pro209Ala) rs1688757670
NM_005214.5(CTLA4):c.632G>A (p.Cys211Tyr) rs1688757847
NM_005214.5(CTLA4):c.654T>A (p.Tyr218Ter)
NM_005214.5(CTLA4):c.654T>C (p.Tyr218=)
NM_005214.5(CTLA4):c.659T>C (p.Ile220Thr)
NM_005214.5(CTLA4):c.665T>A (p.Ile222Asn) rs1688758291
NM_005214.5(CTLA4):c.669T>C (p.Asn223=)
NM_005214.5(CTLA4):c.68C>T (p.Thr23Ile) rs1365829864
NM_005214.5(CTLA4):c.71_72del (p.Leu24fs) rs2105772857
NM_005214.5(CTLA4):c.81T>C (p.Phe27=)
NM_005214.5(CTLA4):c.81dup (p.Leu28fs) rs1581571901
NM_005214.5(CTLA4):c.84T>C (p.Leu28=)
NM_005214.5(CTLA4):c.87C>G (p.Leu29=) rs145950656
NM_005214.5(CTLA4):c.93C>T (p.Ile31=) rs1315404501
NM_005214.5(CTLA4):c.97G>A (p.Val33Ile) rs2105772910
NM_006254.4(PRKCD):c.1003G>A (p.Gly335Ser) rs564822118
NM_006254.4(PRKCD):c.1017G>A (p.Glu339=)
NM_006254.4(PRKCD):c.1025G>T (p.Ser342Ile)
NM_006254.4(PRKCD):c.1029G>A (p.Lys343=) rs2107276703
NM_006254.4(PRKCD):c.1034A>T (p.Asn345Ile)
NM_006254.4(PRKCD):c.1040A>G (p.Asn347Ser) rs1553668944
NM_006254.4(PRKCD):c.1041C>A (p.Asn347Lys)
NM_006254.4(PRKCD):c.1047C>T (p.Phe349=)
NM_006254.4(PRKCD):c.1053C>T (p.Phe351=)
NM_006254.4(PRKCD):c.1059G>C (p.Lys353Asn)
NM_006254.4(PRKCD):c.105G>A (p.Ala35=) rs141615361
NM_006254.4(PRKCD):c.105G>T (p.Ala35=)
NM_006254.4(PRKCD):c.1060G>C (p.Val354Leu) rs782601434
NM_006254.4(PRKCD):c.1077C>T (p.Ser359=)
NM_006254.4(PRKCD):c.1080C>T (p.Phe360=)
NM_006254.4(PRKCD):c.1081G>A (p.Gly361Arg) rs369078144
NM_006254.4(PRKCD):c.1083G>T (p.Gly361=)
NM_006254.4(PRKCD):c.1086+16_1086+26del
NM_006254.4(PRKCD):c.1086+17G>A
NM_006254.4(PRKCD):c.1086+20C>T
NM_006254.4(PRKCD):c.1087-12T>A rs2107277347
NM_006254.4(PRKCD):c.1087-15G>A
NM_006254.4(PRKCD):c.1087-15G>T
NM_006254.4(PRKCD):c.1087-16C>T
NM_006254.4(PRKCD):c.1102C>A (p.Leu368Met)
NM_006254.4(PRKCD):c.1102C>G (p.Leu368Val)
NM_006254.4(PRKCD):c.1113A>G (p.Arg371=) rs1257740596
NM_006254.4(PRKCD):c.1118A>G (p.Glu373Gly)
NM_006254.4(PRKCD):c.116-17G>A
NM_006254.4(PRKCD):c.116-7G>C rs1703347409
NM_006254.4(PRKCD):c.1161C>T (p.Ile387=) rs782384878
NM_006254.4(PRKCD):c.1164C>T (p.Asp388=)
NM_006254.4(PRKCD):c.1165G>A (p.Asp389Asn)
NM_006254.4(PRKCD):c.1170C>T (p.Asp390=)
NM_006254.4(PRKCD):c.1180A>G (p.Thr394Ala)
NM_006254.4(PRKCD):c.1182del (p.Met395fs)
NM_006254.4(PRKCD):c.1196G>C (p.Arg399Pro)
NM_006254.4(PRKCD):c.119G>A (p.Arg40His)
NM_006254.4(PRKCD):c.1201C>T (p.Leu401=) rs2107277772
NM_006254.4(PRKCD):c.1211C>G (p.Ala404Gly) rs782150167
NM_006254.4(PRKCD):c.1213G>T (p.Ala405Ser)
NM_006254.4(PRKCD):c.1233C>T (p.Thr411=)
NM_006254.4(PRKCD):c.1240A>C (p.Ile414Leu)
NM_006254.4(PRKCD):c.1260+19_1260+34dup
NM_006254.4(PRKCD):c.1260+3G>T
NM_006254.4(PRKCD):c.1261-14C>A
NM_006254.4(PRKCD):c.1269G>A (p.Leu423=) rs781864780
NM_006254.4(PRKCD):c.1292A>G (p.Asn431Ser)
NM_006254.4(PRKCD):c.1294G>A (p.Gly432Arg) rs1190070838
NM_006254.4(PRKCD):c.1296G>T (p.Gly432=) rs781784839
NM_006254.4(PRKCD):c.1300dup (p.Asp434fs) rs1559629912
NM_006254.4(PRKCD):c.1301del (p.Asp434fs) rs781824115
NM_006254.4(PRKCD):c.1306A>T (p.Met436Leu) rs1439886101
NM_006254.4(PRKCD):c.1329C>T (p.Gly443=) rs1018675596
NM_006254.4(PRKCD):c.1330C>T (p.Arg444Cys)
NM_006254.4(PRKCD):c.1331G>A (p.Arg444His)
NM_006254.4(PRKCD):c.1332C>A (p.Arg444=)
NM_006254.4(PRKCD):c.1345C>T (p.Arg449Cys) rs1575542392
NM_006254.4(PRKCD):c.1353-11C>T
NM_006254.4(PRKCD):c.1353-16C>A
NM_006254.4(PRKCD):c.1353-4C>T rs782614340
NM_006254.4(PRKCD):c.1353-8_1353-7del rs2107281087
NM_006254.4(PRKCD):c.1396A>G (p.Ser466Gly)
NM_006254.4(PRKCD):c.139AAG[1] (p.Lys48del) rs2107256592
NM_006254.4(PRKCD):c.140A>C (p.Lys47Thr) rs1553666756
NM_006254.4(PRKCD):c.1415+11G>C rs1703747131
NM_006254.4(PRKCD):c.1415+4C>T
NM_006254.4(PRKCD):c.1415+5G>A
NM_006254.4(PRKCD):c.141G>C (p.Lys47Asn)
NM_006254.4(PRKCD):c.1433A>G (p.Asn478Ser)
NM_006254.4(PRKCD):c.1439T>C (p.Leu480Pro) rs1703806197
NM_006254.4(PRKCD):c.1450G>A (p.Asp484Asn) rs1703807403
NM_006254.4(PRKCD):c.1458C>T (p.His486=) rs1553670016
NM_006254.4(PRKCD):c.1469C>T (p.Ala490Val)
NM_006254.4(PRKCD):c.1501G>A (p.Gly501Arg)
NM_006254.4(PRKCD):c.1510C>A (p.Arg504=)
NM_006254.4(PRKCD):c.1511G>T (p.Arg504Leu)
NM_006254.4(PRKCD):c.1515C>T (p.Ala505=)
NM_006254.4(PRKCD):c.151A>G (p.Met51Val)
NM_006254.4(PRKCD):c.1554+14C>G
NM_006254.4(PRKCD):c.1554+8G>C rs141412493
NM_006254.4(PRKCD):c.1555-12C>A
NM_006254.4(PRKCD):c.1555-14C>G
NM_006254.4(PRKCD):c.1555-17G>A rs2107285944
NM_006254.4(PRKCD):c.1566C>T (p.Gly522=)
NM_006254.4(PRKCD):c.1569G>A (p.Leu523=)
NM_006254.4(PRKCD):c.1602C>T (p.Phe534=)
NM_006254.4(PRKCD):c.1637C>A (p.Ser546Tyr)
NM_006254.4(PRKCD):c.1637C>T (p.Ser546Phe) rs1703824527
NM_006254.4(PRKCD):c.1641C>G (p.Pro547=)
NM_006254.4(PRKCD):c.1652A>G (p.Asp551Gly) rs1703825504
NM_006254.4(PRKCD):c.1702C>T (p.Pro568Ser) rs1703828073
NM_006254.4(PRKCD):c.1707C>G (p.Arg569=) rs1575544912
NM_006254.4(PRKCD):c.170C>T (p.Ser57Leu) rs913175157
NM_006254.4(PRKCD):c.171G>A (p.Ser57=)
NM_006254.4(PRKCD):c.1722G>T (p.Glu574Asp) rs2107286422
NM_006254.4(PRKCD):c.1729G>A (p.Asp577Asn)
NM_006254.4(PRKCD):c.1743+10CTGGG[4] rs1192292366
NM_006254.4(PRKCD):c.1743+10CTGGG[5]
NM_006254.4(PRKCD):c.1743+20C>T
NM_006254.4(PRKCD):c.1743+29_1743+38del rs782221968
NM_006254.4(PRKCD):c.1743+29_1743+43del rs782585539
NM_006254.4(PRKCD):c.1743+2T>A
NM_006254.4(PRKCD):c.1743+9C>T
NM_006254.4(PRKCD):c.1744-18G>T
NM_006254.4(PRKCD):c.1744-20G>C
NM_006254.4(PRKCD):c.1763C>G (p.Thr588Ser) rs1703859591
NM_006254.4(PRKCD):c.1776A>C (p.Gly592=)
NM_006254.4(PRKCD):c.1781_1782delinsTG (p.Thr594Met) rs1575545467
NM_006254.4(PRKCD):c.1784G>A (p.Gly595Glu) rs1352945164
NM_006254.4(PRKCD):c.1788C>T (p.Asn596=) rs1703861452
NM_006254.4(PRKCD):c.1797C>G (p.Ile599Met)
NM_006254.4(PRKCD):c.1801C>G (p.Pro601Ala) rs1703861977
NM_006254.4(PRKCD):c.1805T>C (p.Phe602Ser)
NM_006254.4(PRKCD):c.1822T>C (p.Trp608Arg) rs1703863535
NM_006254.4(PRKCD):c.1831C>A (p.Leu611Met)
NM_006254.4(PRKCD):c.1847T>G (p.Leu616Trp) rs2107288493
NM_006254.4(PRKCD):c.1871T>C (p.Val624Ala) rs782223641
NM_006254.4(PRKCD):c.1872+11C>G
NM_006254.4(PRKCD):c.1872+13G>A
NM_006254.4(PRKCD):c.1872+1G>A rs782367516
NM_006254.4(PRKCD):c.1873-19C>T
NM_006254.4(PRKCD):c.1873-20C>T
NM_006254.4(PRKCD):c.1873-3T>C rs1703944773
NM_006254.4(PRKCD):c.187A>G (p.Ile63Val)
NM_006254.4(PRKCD):c.1881C>G (p.Pro627=) rs199634315
NM_006254.4(PRKCD):c.1881C>T (p.Pro627=)
NM_006254.4(PRKCD):c.1893T>G (p.Ser631Arg)
NM_006254.4(PRKCD):c.189C>T (p.Ile63=) rs2107256827
NM_006254.4(PRKCD):c.1917C>T (p.Asn639=)
NM_006254.4(PRKCD):c.1926_1927delinsAT (p.Arg643Cys)
NM_006254.4(PRKCD):c.1944C>T (p.Asp648=)
NM_006254.4(PRKCD):c.1980C>T (p.Phe660=)
NM_006254.4(PRKCD):c.1998G>A (p.Val666=) rs1575547280
NM_006254.4(PRKCD):c.2001C>T (p.Asn667=)
NM_006254.4(PRKCD):c.2016C>A (p.His672Gln) rs1553671108
NM_006254.4(PRKCD):c.201C>T (p.Arg67=)
NM_006254.4(PRKCD):c.2024A>G (p.Glu675Gly)
NM_006254.4(PRKCD):c.2026G>T (p.Asp676Tyr) rs2107293780
NM_006254.4(PRKCD):c.2030G>T (p.Ter677Leu) rs2107293797
NM_006254.4(PRKCD):c.214G>A (p.Val72Met) rs151061939
NM_006254.4(PRKCD):c.250G>A (p.Val84Met)
NM_006254.4(PRKCD):c.250G>T (p.Val84Leu) rs1327842167
NM_006254.4(PRKCD):c.266C>T (p.Ser89Leu)
NM_006254.4(PRKCD):c.271C>T (p.Leu91=) rs79725471
NM_006254.4(PRKCD):c.280C>T (p.Arg94Cys) rs963574725
NM_006254.4(PRKCD):c.285C>A (p.Cys95Ter) rs2107257357
NM_006254.4(PRKCD):c.287A>G (p.Lys96Arg)
NM_006254.4(PRKCD):c.305C>T (p.Ala102Val) rs2107257453
NM_006254.4(PRKCD):c.309G>A (p.Glu103=)
NM_006254.4(PRKCD):c.30C>A (p.Asn10Lys)
NM_006254.4(PRKCD):c.315+13C>T
NM_006254.4(PRKCD):c.315+17C>T
NM_006254.4(PRKCD):c.315+18C>T
NM_006254.4(PRKCD):c.315+19G>A rs1703363074
NM_006254.4(PRKCD):c.315+7G>A rs1559623472
NM_006254.4(PRKCD):c.315+8G>T
NM_006254.4(PRKCD):c.315G>A (p.Trp105Ter) rs2107257487
NM_006254.4(PRKCD):c.316-7C>T
NM_006254.4(PRKCD):c.339G>A (p.Lys113=)
NM_006254.4(PRKCD):c.340G>C (p.Val114Leu) rs2107261818
NM_006254.4(PRKCD):c.343T>C (p.Leu115=)
NM_006254.4(PRKCD):c.360T>C (p.Tyr120=)
NM_006254.4(PRKCD):c.376+12C>T
NM_006254.4(PRKCD):c.376+13T>G rs781826392
NM_006254.4(PRKCD):c.376+15G>T
NM_006254.4(PRKCD):c.376+16G>T
NM_006254.4(PRKCD):c.376+6A>G rs2107261999
NM_006254.4(PRKCD):c.376+9T>C rs2107262029
NM_006254.4(PRKCD):c.376G>T (p.Asp126Tyr) rs1553667410
NM_006254.4(PRKCD):c.377-7T>A rs372103939
NM_006254.4(PRKCD):c.389C>T (p.Ser130Phe)
NM_006254.4(PRKCD):c.405C>G (p.Asp135Glu) rs200462015
NM_006254.4(PRKCD):c.417C>G (p.Phe139Leu) rs56208295
NM_006254.4(PRKCD):c.420A>G (p.Pro140=) rs2107262755
NM_006254.4(PRKCD):c.421A>G (p.Thr141Ala) rs1703439359
NM_006254.4(PRKCD):c.422C>T (p.Thr141Met)
NM_006254.4(PRKCD):c.423G>A (p.Thr141=)
NM_006254.4(PRKCD):c.433C>T (p.Arg145Cys) rs2107262808
NM_006254.4(PRKCD):c.442A>G (p.Ile148Val) rs1559624784
NM_006254.4(PRKCD):c.446A>G (p.Lys149Arg) rs74793932
NM_006254.4(PRKCD):c.44G>A (p.Gly15Asp) rs369358922
NM_006254.4(PRKCD):c.458T>C (p.Ile153Thr) rs370103982
NM_006254.4(PRKCD):c.474C>T (p.Asn158=)
NM_006254.4(PRKCD):c.486C>T (p.Ile162=)
NM_006254.4(PRKCD):c.488C>T (p.Ala163Val)
NM_006254.4(PRKCD):c.522G>A (p.Val174=)
NM_006254.4(PRKCD):c.531C>T (p.Asp177=) rs1240610213
NM_006254.4(PRKCD):c.539+16G>A
NM_006254.4(PRKCD):c.540-17T>C
NM_006254.4(PRKCD):c.540-9G>C
NM_006254.4(PRKCD):c.544C>T (p.Leu182Phe) rs1553667592
NM_006254.4(PRKCD):c.563A>G (p.Lys188Arg)
NM_006254.4(PRKCD):c.56C>T (p.Ala19Val) rs2107253193
NM_006254.4(PRKCD):c.571+15A>G
NM_006254.4(PRKCD):c.571+17G>A
NM_006254.4(PRKCD):c.571+1G>A
NM_006254.4(PRKCD):c.571+7G>A
NM_006254.4(PRKCD):c.571C>T (p.Gln191Ter) rs576747810
NM_006254.4(PRKCD):c.572-6T>C rs2107267620
NM_006254.4(PRKCD):c.576T>C (p.Cys192=)
NM_006254.4(PRKCD):c.578A>G (p.Asn193Ser) rs2107267626
NM_006254.4(PRKCD):c.57C>A (p.Ala19=) rs377115507
NM_006254.4(PRKCD):c.57C>G (p.Ala19=) rs377115507
NM_006254.4(PRKCD):c.581C>T (p.Ala194Val) rs1553668112
NM_006254.4(PRKCD):c.610A>T (p.Ile204Phe) rs1575537929
NM_006254.4(PRKCD):c.618C>T (p.Gly206=)
NM_006254.4(PRKCD):c.646C>T (p.Arg216Trp) rs782269447
NM_006254.4(PRKCD):c.651C>T (p.Asp217=) rs2107267952
NM_006254.4(PRKCD):c.657+10G>T
NM_006254.4(PRKCD):c.657+14C>T
NM_006254.4(PRKCD):c.657+6C>G rs1397485856
NM_006254.4(PRKCD):c.657+8T>C
NM_006254.4(PRKCD):c.658-11C>G
NM_006254.4(PRKCD):c.658-14A>G
NM_006254.4(PRKCD):c.658-19G>A
NM_006254.4(PRKCD):c.658-9del
NM_006254.4(PRKCD):c.660C>T (p.Phe220=)
NM_006254.4(PRKCD):c.663G>A (p.Gln221=)
NM_006254.4(PRKCD):c.671G>A (p.Arg224His) rs1553668239
NM_006254.4(PRKCD):c.680T>C (p.Ile227Thr)
NM_006254.4(PRKCD):c.681C>T (p.Ile227=)
NM_006254.4(PRKCD):c.690G>A (p.Pro230=) rs55865871
NM_006254.4(PRKCD):c.69G>A (p.Ala23=)
NM_006254.4(PRKCD):c.6G>A (p.Ala2=) rs1273815639
NM_006254.4(PRKCD):c.743G>A (p.Gly248Asp) rs1703547897
NM_006254.4(PRKCD):c.744C>T (p.Gly248=) rs147545646
NM_006254.4(PRKCD):c.750G>A (p.Leu250=) rs2107269090
NM_006254.4(PRKCD):c.771G>A (p.Gln257=)
NM_006254.4(PRKCD):c.778A>C (p.Lys260Gln)
NM_006254.4(PRKCD):c.787+15G>A
NM_006254.4(PRKCD):c.787+15G>C rs369696959
NM_006254.4(PRKCD):c.787+3G>A
NM_006254.4(PRKCD):c.788-12C>T
NM_006254.4(PRKCD):c.788-18G>A
NM_006254.4(PRKCD):c.788-19C>T
NM_006254.4(PRKCD):c.788-1G>T
NM_006254.4(PRKCD):c.788-3C>T
NM_006254.4(PRKCD):c.804G>A (p.Val268=)
NM_006254.4(PRKCD):c.820G>A (p.Glu274Lys) rs1553668639
NM_006254.4(PRKCD):c.826G>T (p.Val276Leu) rs1553668642
NM_006254.4(PRKCD):c.846C>A (p.Ile282=)
NM_006254.4(PRKCD):c.846C>T (p.Ile282=) rs372028715
NM_006254.4(PRKCD):c.87C>T (p.Ala29=)
NM_006254.4(PRKCD):c.888+12C>T
NM_006254.4(PRKCD):c.888+19G>A
NM_006254.4(PRKCD):c.889-11T>C
NM_006254.4(PRKCD):c.889-20C>A rs369329996
NM_006254.4(PRKCD):c.889-20C>G rs369329996
NM_006254.4(PRKCD):c.889-4C>T
NM_006254.4(PRKCD):c.88G>A (p.Val30Met) rs1703300399
NM_006254.4(PRKCD):c.892G>A (p.Ala298Thr) rs2107275432
NM_006254.4(PRKCD):c.896C>T (p.Ser299Phe) rs1703646229
NM_006254.4(PRKCD):c.902G>T (p.Arg301Ile) rs2107275476
NM_006254.4(PRKCD):c.90G>A (p.Val30=) rs1437451277
NM_006254.4(PRKCD):c.90G>C (p.Val30=) rs1437451277
NM_006254.4(PRKCD):c.912A>G (p.Ser304=) rs529176751
NM_006254.4(PRKCD):c.915C>A (p.Ala305=) rs201862364
NM_006254.4(PRKCD):c.932G>A (p.Gly311Glu) rs2107275603
NM_006254.4(PRKCD):c.939T>C (p.Tyr313=)
NM_006254.4(PRKCD):c.940C>G (p.Gln314Glu) rs1553668823
NM_006254.4(PRKCD):c.975G>A (p.Glu325=)
NM_006254.4(PRKCD):c.985+12T>G
NM_006254.4(PRKCD):c.985+18G>A
NM_006254.4(PRKCD):c.985+19C>T
NM_006254.4(PRKCD):c.986-12T>A
NM_006254.4(PRKCD):c.998C>A (p.Thr333Asn) rs1703664468
NM_007315.4(STAT1):c.1014G>A (p.Gly338=) rs2125048169
NM_007315.4(STAT1):c.1037+18G>A
NM_007315.4(STAT1):c.1037+8G>A
NM_007315.4(STAT1):c.1038-9dup
NM_007315.4(STAT1):c.1038A>C (p.Arg346Ser) rs1693169265
NM_007315.4(STAT1):c.1050A>G (p.Lys350=) rs372304509
NM_007315.4(STAT1):c.1052T>G (p.Leu351Trp) rs1559013693
NM_007315.4(STAT1):c.1053G>C (p.Leu351Phe) rs1064794955
NM_007315.4(STAT1):c.1067A>G (p.Tyr356Cys) rs2125043988
NM_007315.4(STAT1):c.1069A>G (p.Asn357Asp) rs2125043975
NM_007315.4(STAT1):c.1073T>C (p.Leu358Ser) rs2125043967
NM_007315.4(STAT1):c.1078G>T (p.Val360Phe) rs2125043964
NM_007315.4(STAT1):c.1097+17A>G
NM_007315.4(STAT1):c.1097+20A>G
NM_007315.4(STAT1):c.1098-12_1098-11insA
NM_007315.4(STAT1):c.1098-15A>G
NM_007315.4(STAT1):c.1098-18T>C
NM_007315.4(STAT1):c.1098-19AT[2] rs747888324
NM_007315.4(STAT1):c.1098-19dup rs2125035970
NM_007315.4(STAT1):c.1098-5del rs200288904
NM_007315.4(STAT1):c.1098-5dup rs200288904
NM_007315.4(STAT1):c.1106A>G (p.Asn369Ser)
NM_007315.4(STAT1):c.1112_1114del (p.Arg371del)
NM_007315.4(STAT1):c.1124A>G (p.Lys375Arg)
NM_007315.4(STAT1):c.1127+13C>G
NM_007315.4(STAT1):c.1127+13C>T
NM_007315.4(STAT1):c.1127+19G>A rs368077093
NM_007315.4(STAT1):c.1127+19G>T rs368077093
NM_007315.4(STAT1):c.1127+1G>A
NM_007315.4(STAT1):c.1127+3A>G
NM_007315.4(STAT1):c.1128-1G>A
NM_007315.4(STAT1):c.1128-4A>G
NM_007315.4(STAT1):c.1128-8T>C
NM_007315.4(STAT1):c.1128-9A>G
NM_007315.4(STAT1):c.1137G>A (p.Lys379=) rs2125035188
NM_007315.4(STAT1):c.1147T>G (p.Leu383Val)
NM_007315.4(STAT1):c.1151G>T (p.Gly384Val)
NM_007315.4(STAT1):c.1152C>T (p.Gly384=) rs2125035095
NM_007315.4(STAT1):c.1154C>T (p.Thr385Met) rs587777630
NM_007315.4(STAT1):c.1159A>C (p.Thr387Pro)
NM_007315.4(STAT1):c.1159A>G (p.Thr387Ala)
NM_007315.4(STAT1):c.1162A>C (p.Lys388Gln) rs1559011859
NM_007315.4(STAT1):c.1162A>G (p.Lys388Glu)
NM_007315.4(STAT1):c.1166T>G (p.Val389Gly) rs1692876152
NM_007315.4(STAT1):c.1168A>G (p.Met390Val) rs1574648919
NM_007315.4(STAT1):c.1169T>C (p.Met390Thr) rs1553494436
NM_007315.4(STAT1):c.1170G>A (p.Met390Ile)
NM_007315.4(STAT1):c.1198C>G (p.Leu400Val)
NM_007315.4(STAT1):c.1202C>A (p.Ala401Glu) rs1692872913
NM_007315.4(STAT1):c.1203G>A (p.Ala401=)
NM_007315.4(STAT1):c.120G>A (p.Lys40=)
NM_007315.4(STAT1):c.1221+13G>C rs2125034596
NM_007315.4(STAT1):c.1221+18C>T
NM_007315.4(STAT1):c.1221+6G>T rs1692870587
NM_007315.4(STAT1):c.1221+9A>G rs2125034622
NM_007315.4(STAT1):c.1222-13A>G
NM_007315.4(STAT1):c.1222-20G>C rs2125029581
NM_007315.4(STAT1):c.1222-9G>T rs551727276
NM_007315.4(STAT1):c.1224A>G (p.Gln408=)
NM_007315.4(STAT1):c.1231_1232del (p.Glu411fs) rs2125029430
NM_007315.4(STAT1):c.1251C>T (p.Thr417=)
NM_007315.4(STAT1):c.1256C>G (p.Thr419Arg) rs1347113886
NM_007315.4(STAT1):c.1263+11C>T
NM_007315.4(STAT1):c.1263+15_1263+18del rs765648503
NM_007315.4(STAT1):c.1263+4A>G rs1692742284
NM_007315.4(STAT1):c.1264-10C>A
NM_007315.4(STAT1):c.1264-10C>G rs757527885
NM_007315.4(STAT1):c.1264-20_1264-18del
NM_007315.4(STAT1):c.1264-4C>T
NM_007315.4(STAT1):c.1264-5C>A
NM_007315.4(STAT1):c.128+13C>T
NM_007315.4(STAT1):c.128+17A>G rs2125103282
NM_007315.4(STAT1):c.128+20C>T
NM_007315.4(STAT1):c.128+9A>G
NM_007315.4(STAT1):c.1286_1287del (p.Glu429fs)
NM_007315.4(STAT1):c.129-15T>C
NM_007315.4(STAT1):c.129-5C>T
NM_007315.4(STAT1):c.129-5_129-3del rs747088864
NM_007315.4(STAT1):c.1295C>T (p.Ser432Phe)
NM_007315.4(STAT1):c.1297C>G (p.Leu433Val) rs1181214715
NM_007315.4(STAT1):c.1310C>T (p.Thr437Ile) rs1692619276
NM_007315.4(STAT1):c.1311C>T (p.Thr437=) rs1204509101
NM_007315.4(STAT1):c.1320C>T (p.Cys440=)
NM_007315.4(STAT1):c.132G>T (p.Glu44Asp)
NM_007315.4(STAT1):c.1333G>A (p.Val445Ile) rs753695026
NM_007315.4(STAT1):c.1347+15G>T rs1424504598
NM_007315.4(STAT1):c.1347+19C>T
NM_007315.4(STAT1):c.1347+3A>G rs1574645914
NM_007315.4(STAT1):c.1350_1351delinsTT (p.Thr451Ser)
NM_007315.4(STAT1):c.1362C>A (p.Pro454=) rs753907638
NM_007315.4(STAT1):c.1363G>T (p.Val455Phe)
NM_007315.4(STAT1):c.1371G>A (p.Val457=) rs144704615
NM_007315.4(STAT1):c.1371G>C (p.Val457=) rs144704615
NM_007315.4(STAT1):c.1378A>G (p.Asn460Asp)
NM_007315.4(STAT1):c.1380C>T (p.Asn460=)
NM_007315.4(STAT1):c.1386C>A (p.Ser462Arg)
NM_007315.4(STAT1):c.1398C>A (p.Ser466Arg) rs763759889
NM_007315.4(STAT1):c.1401T>C (p.Gly467=) rs775003532
NM_007315.4(STAT1):c.1422C>T (p.Tyr474=)
NM_007315.4(STAT1):c.143A>G (p.Asn48Ser)
NM_007315.4(STAT1):c.1446+15T>C rs1692557710
NM_007315.4(STAT1):c.1447-4C>T
NM_007315.4(STAT1):c.1447-6C>T
NM_007315.4(STAT1):c.1469C>T (p.Pro490Leu) rs2125018475
NM_007315.4(STAT1):c.1498G>A (p.Glu500Lys)
NM_007315.4(STAT1):c.1501G>C (p.Val501Leu)
NM_007315.4(STAT1):c.1504C>T (p.Leu502=)
NM_007315.4(STAT1):c.1508G>A (p.Ser503Asn)
NM_007315.4(STAT1):c.1524T>G (p.Ser508=)
NM_007315.4(STAT1):c.1540C>T (p.Leu514Phe) rs2125018329
NM_007315.4(STAT1):c.1582+12T>C rs2125018153
NM_007315.4(STAT1):c.1582+15A>G
NM_007315.4(STAT1):c.1583-16G>A
NM_007315.4(STAT1):c.1583-16G>T rs776782549
NM_007315.4(STAT1):c.1590C>T (p.Asn530=)
NM_007315.4(STAT1):c.1594A>G (p.Ser532Gly) rs2125013089
NM_007315.4(STAT1):c.159C>T (p.Ala53=) rs1694925548
NM_007315.4(STAT1):c.1613C>T (p.Pro538Leu)
NM_007315.4(STAT1):c.1629T>G (p.Cys543Trp) rs1574642464
NM_007315.4(STAT1):c.1632+10G>A
NM_007315.4(STAT1):c.1632+14G>A rs2125012875
NM_007315.4(STAT1):c.1632+15G>T
NM_007315.4(STAT1):c.1632+19T>C
NM_007315.4(STAT1):c.1632+1G>A
NM_007315.4(STAT1):c.1632+6del rs759601214
NM_007315.4(STAT1):c.1633-13dup rs748055688
NM_007315.4(STAT1):c.1643A>G (p.Asn548Ser)
NM_007315.4(STAT1):c.1657C>T (p.Pro553Ser)
NM_007315.4(STAT1):c.1675G>C (p.Glu559Gln) rs1574641583
NM_007315.4(STAT1):c.1684C>T (p.Leu562=)
NM_007315.4(STAT1):c.1687G>C (p.Glu563Gln) rs2125010416
NM_007315.4(STAT1):c.1688A>G (p.Glu563Gly)
NM_007315.4(STAT1):c.1688A>T (p.Glu563Val)
NM_007315.4(STAT1):c.1698A>G (p.Lys566=) rs2125010388
NM_007315.4(STAT1):c.16G>A (p.Glu6Lys)
NM_007315.4(STAT1):c.1727+6G>C
NM_007315.4(STAT1):c.1728-10C>T
NM_007315.4(STAT1):c.1728-15C>T
NM_007315.4(STAT1):c.1728-6A>G
NM_007315.4(STAT1):c.1728-9G>A
NM_007315.4(STAT1):c.1756C>G (p.Arg586Gly)
NM_007315.4(STAT1):c.1757G>A (p.Arg586Gln) rs144788879
NM_007315.4(STAT1):c.1761G>A (p.Glu587=) rs2125007629
NM_007315.4(STAT1):c.1765G>A (p.Ala589Thr) rs745491762
NM_007315.4(STAT1):c.1765G>C (p.Ala589Pro)
NM_007315.4(STAT1):c.1775A>C (p.Lys592Thr)
NM_007315.4(STAT1):c.1787C>T (p.Pro596Leu)
NM_007315.4(STAT1):c.1788G>A (p.Pro596=)
NM_007315.4(STAT1):c.178C>T (p.Leu60Phe) rs2125100882
NM_007315.4(STAT1):c.1791G>C (p.Gly597=)
NM_007315.4(STAT1):c.1794C>T (p.Thr598=)
NM_007315.4(STAT1):c.1797C>T (p.Phe599=)
NM_007315.4(STAT1):c.1798C>T (p.Leu600=)
NM_007315.4(STAT1):c.1822C>T (p.Arg608Trp)
NM_007315.4(STAT1):c.1827A>G (p.Glu609=) rs1013538894
NM_007315.4(STAT1):c.1830G>A (p.Gly610=)
NM_007315.4(STAT1):c.1849G>A (p.Val617Met)
NM_007315.4(STAT1):c.1854G>A (p.Glu618=)
NM_007315.4(STAT1):c.1857G>A (p.Arg619=)
NM_007315.4(STAT1):c.1867G>A (p.Gly623Arg)
NM_007315.4(STAT1):c.1873+7G>A
NM_007315.4(STAT1):c.1874-11C>A
NM_007315.4(STAT1):c.1874-3T>C rs2125000778
NM_007315.4(STAT1):c.1886A>T (p.His629Leu) rs1691957289
NM_007315.4(STAT1):c.188A>G (p.Gln63Arg) rs2125100837
NM_007315.4(STAT1):c.1890G>T (p.Ala630=) rs757407974
NM_007315.4(STAT1):c.1905G>A (p.Thr635=)
NM_007315.4(STAT1):c.1911A>G (p.Lys637=) rs759265816
NM_007315.4(STAT1):c.193G>A (p.Asp65Asn) rs1574672739
NM_007315.4(STAT1):c.1942A>G (p.Ile648Val)
NM_007315.4(STAT1):c.1949A>G (p.Asn650Ser) rs776429557
NM_007315.4(STAT1):c.194A>G (p.Asp65Gly)
NM_007315.4(STAT1):c.1965T>G (p.Ala655=)
NM_007315.4(STAT1):c.1974T>G (p.Asn658Lys)
NM_007315.4(STAT1):c.1976T>C (p.Ile659Thr) rs2125000384
NM_007315.4(STAT1):c.1989_1997dup (p.Leu667_Tyr668insLysTyrLeu)
NM_007315.4(STAT1):c.1992G>C (p.Leu664=) rs1691949058
NM_007315.4(STAT1):c.1999_2000del (p.Leu667fs) rs2125000306
NM_007315.4(STAT1):c.2009A>G (p.Asn670Ser) rs2125000268
NM_007315.4(STAT1):c.200A>C (p.Gln67Pro)
NM_007315.4(STAT1):c.200A>G (p.Gln67Arg)
NM_007315.4(STAT1):c.2011A>G (p.Ile671Val)
NM_007315.4(STAT1):c.2016C>A (p.Asp672Glu)
NM_007315.4(STAT1):c.2034A>C (p.Gly678=)
NM_007315.4(STAT1):c.203A>G (p.Tyr68Cys)
NM_007315.4(STAT1):c.2059+18G>A
NM_007315.4(STAT1):c.2059+18G>T rs2124999919
NM_007315.4(STAT1):c.2059+6_2059+7del rs1691942843
NM_007315.4(STAT1):c.2059+8G>A rs2125000014
NM_007315.4(STAT1):c.2059G>C (p.Ala687Pro)
NM_007315.4(STAT1):c.208C>G (p.Arg70Gly)
NM_007315.4(STAT1):c.208C>T (p.Arg70Cys)
NM_007315.4(STAT1):c.2101T>A (p.Tyr701Asn)
NM_007315.4(STAT1):c.2102A>G (p.Tyr701Cys) rs2124996723
NM_007315.4(STAT1):c.2134G>A (p.Val712Ile)
NM_007315.4(STAT1):c.2135+2T>A rs2124996603
NM_007315.4(STAT1):c.2136-15T>C
NM_007315.4(STAT1):c.2136-4T>G
NM_007315.4(STAT1):c.2160A>G (p.Thr720=)
NM_007315.4(STAT1):c.2166C>T (p.Asn722=)
NM_007315.4(STAT1):c.2172C>A (p.Leu724=) rs140108956
NM_007315.4(STAT1):c.2175C>G (p.Pro725=)
NM_007315.4(STAT1):c.2193T>C (p.Phe731=) rs1261939030
NM_007315.4(STAT1):c.2201_2208del (p.Val734fs) rs1691780324
NM_007315.4(STAT1):c.2202G>T (p.Val734=)
NM_007315.4(STAT1):c.2217C>T (p.Gly739=)
NM_007315.4(STAT1):c.2230G>A (p.Asp744Asn)
NM_007315.4(STAT1):c.2236A>G (p.Met746Val)
NM_007315.4(STAT1):c.2238+12G>A
NM_007315.4(STAT1):c.2238+18C>A
NM_007315.4(STAT1):c.2238+18C>T rs1369745586
NM_007315.4(STAT1):c.2238+19C>T
NM_007315.4(STAT1):c.2238+6T>C
NM_007315.4(STAT1):c.2238+8C>T rs1220211002
NM_007315.4(STAT1):c.2239-16T>G
NM_007315.4(STAT1):c.2239-18C>T
NM_007315.4(STAT1):c.2239-20C>T
NM_007315.4(STAT1):c.2249_*2del (p.Val750fs)
NM_007315.4(STAT1):c.237A>G (p.Leu79=) rs2125100744
NM_007315.4(STAT1):c.246C>A (p.Asn82Lys) rs1694920831
NM_007315.4(STAT1):c.273+13T>C
NM_007315.4(STAT1):c.274-12A>C
NM_007315.4(STAT1):c.274-6A>G rs2125097234
NM_007315.4(STAT1):c.274-9C>G
NM_007315.4(STAT1):c.295A>G (p.Ile99Val)
NM_007315.4(STAT1):c.355G>A (p.Ala119Thr)
NM_007315.4(STAT1):c.358C>G (p.Gln120Glu) rs1694803399
NM_007315.4(STAT1):c.372+15T>C
NM_007315.4(STAT1):c.372+18A>G
NM_007315.4(STAT1):c.373-10C>G
NM_007315.4(STAT1):c.373-7A>G
NM_007315.4(STAT1):c.373-8dup rs1559021132
NM_007315.4(STAT1):c.375T>C (p.Ala125=)
NM_007315.4(STAT1):c.389T>C (p.Ile130Thr) rs1694239561
NM_007315.4(STAT1):c.38A>G (p.Lys13Arg)
NM_007315.4(STAT1):c.400G>T (p.Val134Leu)
NM_007315.4(STAT1):c.434A>G (p.Lys145Arg) rs2125079464
NM_007315.4(STAT1):c.435A>G (p.Lys145=) rs2125079456
NM_007315.4(STAT1):c.444T>C (p.Asn148=)
NM_007315.4(STAT1):c.456G>A (p.Lys152=)
NM_007315.4(STAT1):c.462+18A>G
NM_007315.4(STAT1):c.462+8T>C
NM_007315.4(STAT1):c.463-11T>G
NM_007315.4(STAT1):c.463-6T>G
NM_007315.4(STAT1):c.463-6_463-3del rs773775483
NM_007315.4(STAT1):c.463-9T>G
NM_007315.4(STAT1):c.463T>C (p.Cys155Arg)
NM_007315.4(STAT1):c.467T>C (p.Ile156Thr)
NM_007315.4(STAT1):c.489_497del (p.Glu164_Leu166del) rs2125075101
NM_007315.4(STAT1):c.496_504del (p.Leu166_Asp168del) rs2125075085
NM_007315.4(STAT1):c.504T>C (p.Asp168=) rs2125075069
NM_007315.4(STAT1):c.506A>T (p.Glu169Val)
NM_007315.4(STAT1):c.511G>A (p.Asp171Asn) rs2125075054
NM_007315.4(STAT1):c.516C>G (p.Phe172Leu)
NM_007315.4(STAT1):c.51G>A (p.Gln17=) rs1574673866
NM_007315.4(STAT1):c.533A>G (p.Gln178Arg) rs2125074995
NM_007315.4(STAT1):c.541+12C>A
NM_007315.4(STAT1):c.595C>T (p.Leu199Phe) rs1693998248
NM_007315.4(STAT1):c.596T>C (p.Leu199Pro) rs1693998068
NM_007315.4(STAT1):c.604A>G (p.Met202Val) rs387906762
NM_007315.4(STAT1):c.623A>G (p.Asn208Ser) rs1693996687
NM_007315.4(STAT1):c.629G>A (p.Arg210Lys) rs1693996119
NM_007315.4(STAT1):c.633+17C>T
NM_007315.4(STAT1):c.633+19G>A
NM_007315.4(STAT1):c.634-20G>A
NM_007315.4(STAT1):c.634-24_634-18del
NM_007315.4(STAT1):c.634G>C (p.Glu212Gln)
NM_007315.4(STAT1):c.661C>T (p.Leu221=)
NM_007315.4(STAT1):c.68A>T (p.Asp23Val) rs1694998227
NM_007315.4(STAT1):c.693G>T (p.Leu231=) rs2125069950
NM_007315.4(STAT1):c.71_74dup (p.Ser25fs) rs1382612689
NM_007315.4(STAT1):c.720G>A (p.Lys240=) rs2125069889
NM_007315.4(STAT1):c.736G>A (p.Ala246Thr)
NM_007315.4(STAT1):c.744T>C (p.Ile248=)
NM_007315.4(STAT1):c.753G>A (p.Pro251=)
NM_007315.4(STAT1):c.758A>G (p.Asn253Ser)
NM_007315.4(STAT1):c.771T>C (p.Asp257=)
NM_007315.4(STAT1):c.773A>T (p.Gln258Leu)
NM_007315.4(STAT1):c.786-12G>A rs562518878
NM_007315.4(STAT1):c.786-12G>C rs562518878
NM_007315.4(STAT1):c.786-13T>G rs747597448
NM_007315.4(STAT1):c.786-20T>C
NM_007315.4(STAT1):c.786G>T (p.Trp262Cys)
NM_007315.4(STAT1):c.792T>C (p.Thr264=)
NM_007315.4(STAT1):c.800C>T (p.Ala267Val) rs387906759
NM_007315.4(STAT1):c.801G>C (p.Ala267=) rs146141778
NM_007315.4(STAT1):c.802G>T (p.Glu268Ter) rs2125062900
NM_007315.4(STAT1):c.804G>A (p.Glu268=)
NM_007315.4(STAT1):c.810G>T (p.Leu270=)
NM_007315.4(STAT1):c.820C>G (p.Arg274Gly) rs387906758
NM_007315.4(STAT1):c.820C>T (p.Arg274Trp) rs387906758
NM_007315.4(STAT1):c.821G>A (p.Arg274Gln) rs387906760
NM_007315.4(STAT1):c.837G>A (p.Lys279=)
NM_007315.4(STAT1):c.850G>A (p.Glu284Lys) rs1574657750
NM_007315.4(STAT1):c.851A>G (p.Glu284Gly) rs1693752801
NM_007315.4(STAT1):c.855G>A (p.Gln285=)
NM_007315.4(STAT1):c.856A>C (p.Lys286Gln) rs1693752377
NM_007315.4(STAT1):c.856A>G (p.Lys286Glu) rs1693752377
NM_007315.4(STAT1):c.861C>G (p.Tyr287Ter)
NM_007315.4(STAT1):c.862A>G (p.Thr288Ala) rs387906765
NM_007315.4(STAT1):c.863C>T (p.Thr288Ile) rs1693751220
NM_007315.4(STAT1):c.864C>G (p.Thr288=)
NM_007315.4(STAT1):c.865T>C (p.Tyr289His)
NM_007315.4(STAT1):c.866A>G (p.Tyr289Cys) rs1553496850
NM_007315.4(STAT1):c.867C>T (p.Tyr289=)
NM_007315.4(STAT1):c.868G>A (p.Glu290Lys)
NM_007315.4(STAT1):c.871C>T (p.His291Tyr) rs2125062260
NM_007315.4(STAT1):c.876C>A (p.Asp292Glu) rs1085307649
NM_007315.4(STAT1):c.877C>A (p.Pro293Thr)
NM_007315.4(STAT1):c.877C>G (p.Pro293Ala) rs2125062189
NM_007315.4(STAT1):c.877_891del (p.Pro293_Asn297del) rs1693749076
NM_007315.4(STAT1):c.878C>T (p.Pro293Leu)
NM_007315.4(STAT1):c.88A>G (p.Ile30Val)
NM_007315.4(STAT1):c.913A>T (p.Thr305Ser)
NM_007315.4(STAT1):c.934C>T (p.Leu312Phe) rs1574657656
NM_007315.4(STAT1):c.937A>G (p.Ile313Val)
NM_007315.4(STAT1):c.944+11G>T
NM_007315.4(STAT1):c.944+7C>T rs1179398077
NM_007315.4(STAT1):c.944+9A>G
NM_007315.4(STAT1):c.945-10G>A
NM_007315.4(STAT1):c.945-11G>T rs752496029
NM_007315.4(STAT1):c.945-15G>C
NM_007315.4(STAT1):c.945-17T>C rs2125048450
NM_007315.4(STAT1):c.945-5T>G rs1574653475
NM_007315.4(STAT1):c.955G>A (p.Val319Met) rs1693315914
NM_007315.4(STAT1):c.961A>G (p.Arg321Gly)
NM_007315.4(STAT1):c.969C>T (p.Pro323=)
NM_007315.4(STAT1):c.970T>C (p.Cys324Arg) rs1574653439
NM_007315.4(STAT1):c.974T>A (p.Met325Lys)
NM_007315.4(STAT1):c.976C>T (p.Pro326Ser) rs1693314120
NM_007315.4(STAT1):c.989A>G (p.Gln330Arg) rs1693312947
NM_007315.4(STAT1):c.996G>A (p.Pro332=)
NM_014009.4(FOXP3):c.*878A>G rs2066021673
NM_014009.4(FOXP3):c.-23+3G>A
NM_014009.4(FOXP3):c.-23+4A>G rs1216773491
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln) rs2066044949
NM_014009.4(FOXP3):c.1015C>G (p.Pro339Ala) rs886044787
NM_014009.4(FOXP3):c.1020C>G (p.Phe340Leu)
NM_014009.4(FOXP3):c.1026C>T (p.Tyr342=)
NM_014009.4(FOXP3):c.1027G>A (p.Ala343Thr) rs782649847
NM_014009.4(FOXP3):c.1031C>A (p.Thr344Lys) rs782539207
NM_014009.4(FOXP3):c.1031C>T (p.Thr344Met)
NM_014009.4(FOXP3):c.1036A>G (p.Ile346Val) rs1557115789
NM_014009.4(FOXP3):c.1040G>A (p.Arg347His) rs1557115786
NM_014009.4(FOXP3):c.1044+16C>T
NM_014009.4(FOXP3):c.1044G>T (p.Trp348Cys) rs2066044558
NM_014009.4(FOXP3):c.1045-11C>G rs74162068
NM_014009.4(FOXP3):c.1045-11C>T rs74162068
NM_014009.4(FOXP3):c.1045-14C>T
NM_014009.4(FOXP3):c.1045-15C>A
NM_014009.4(FOXP3):c.1045-15_1045-9del rs1428795908
NM_014009.4(FOXP3):c.1045-17C>T rs2147944472
NM_014009.4(FOXP3):c.1045-6T>C
NM_014009.4(FOXP3):c.1080C>G (p.Leu360=) rs2147944398
NM_014009.4(FOXP3):c.1087A>G (p.Ile363Val) rs2147944391
NM_014009.4(FOXP3):c.1091A>G (p.Tyr364Cys)
NM_014009.4(FOXP3):c.1099T>C (p.Phe367Leu) rs122467175
NM_014009.4(FOXP3):c.1119C>T (p.Phe373=)
NM_014009.4(FOXP3):c.1129C>G (p.His377Asp) rs1557115591
NM_014009.4(FOXP3):c.1146+16G>C
NM_014009.4(FOXP3):c.1146+8C>T
NM_014009.4(FOXP3):c.1147-12G>A rs370285865
NM_014009.4(FOXP3):c.1147-12G>C
NM_014009.4(FOXP3):c.1150G>A (p.Ala384Thr) rs122467170
NM_014009.4(FOXP3):c.1151C>T (p.Ala384Val) rs2147944159
NM_014009.4(FOXP3):c.1190G>A (p.Arg397Gln) rs1057520529
NM_014009.4(FOXP3):c.1191G>T (p.Arg397=)
NM_014009.4(FOXP3):c.1222G>A (p.Val408Met) rs1557115532
NM_014009.4(FOXP3):c.1227T>C (p.Asp409=)
NM_014009.4(FOXP3):c.1247A>T (p.Lys416Ile) rs1569529568
NM_014009.4(FOXP3):c.1248A>T (p.Lys416Asn) rs2066029945
NM_014009.4(FOXP3):c.1249C>T (p.Arg417Trp)
NM_014009.4(FOXP3):c.1250G>A (p.Arg417Gln)
NM_014009.4(FOXP3):c.1252A>G (p.Ser418Gly)
NM_014009.4(FOXP3):c.1253G>A (p.Ser418Asn) rs1317916668
NM_014009.4(FOXP3):c.1253G>C (p.Ser418Thr)
NM_014009.4(FOXP3):c.1257G>C (p.Gln419His) rs2066029760
NM_014009.4(FOXP3):c.1270_1272delinsC (p.Cys424fs) rs1569529565
NM_014009.4(FOXP3):c.1277A>G (p.Asn426Ser)
NM_014009.4(FOXP3):c.1280C>G (p.Pro427Arg) rs2066029479
NM_014009.4(FOXP3):c.1285C>T (p.Pro429Ser)
NM_014009.4(FOXP3):c.129A>G (p.Gly43=) rs1602687640
NM_014009.4(FOXP3):c.131C>G (p.Thr44Ser)
NM_014009.4(FOXP3):c.142C>T (p.Arg48Ter) rs2066088072
NM_014009.4(FOXP3):c.14G>T (p.Arg5Met) rs2147949758
NM_014009.4(FOXP3):c.162C>T (p.Ala54=)
NM_014009.4(FOXP3):c.166G>A (p.Ala56Thr)
NM_014009.4(FOXP3):c.168CTC[1] (p.Ser60del) rs781861708
NM_014009.4(FOXP3):c.174T>C (p.Ser58=)
NM_014009.4(FOXP3):c.188C>T (p.Pro63Leu)
NM_014009.4(FOXP3):c.195A>T (p.Pro65=)
NM_014009.4(FOXP3):c.205C>G (p.Leu69Val)
NM_014009.4(FOXP3):c.210+1G>A rs886041596
NM_014009.4(FOXP3):c.210+1G>T rs886041596
NM_014009.4(FOXP3):c.210+5G>A
NM_014009.4(FOXP3):c.211-17C>A rs2147949241
NM_014009.4(FOXP3):c.211C>G (p.Leu71Val)
NM_014009.4(FOXP3):c.223C>T (p.Pro75Ser)
NM_014009.4(FOXP3):c.226C>G (p.Leu76Val)
NM_014009.4(FOXP3):c.229G>C (p.Val77Leu)
NM_014009.4(FOXP3):c.241C>T (p.Pro81Ser)
NM_014009.4(FOXP3):c.248G>A (p.Gly83Glu)
NM_014009.4(FOXP3):c.288C>A (p.Leu96=) rs942280481
NM_014009.4(FOXP3):c.292G>A (p.Asp98Asn) rs2147949106
NM_014009.4(FOXP3):c.2T>A (p.Met1Lys) rs2147949777
NM_014009.4(FOXP3):c.315+2T>A rs2147949090
NM_014009.4(FOXP3):c.315+9G>A
NM_014009.4(FOXP3):c.316-13A>G rs2066082389
NM_014009.4(FOXP3):c.316-3del rs782086170
NM_014009.4(FOXP3):c.316-4C>T rs977920377
NM_014009.4(FOXP3):c.318C>T (p.Leu106=)
NM_014009.4(FOXP3):c.336C>T (p.His112=) rs143632471
NM_014009.4(FOXP3):c.337G>A (p.Ala113Thr) rs1398753395
NM_014009.4(FOXP3):c.337G>T (p.Ala113Ser) rs1398753395
NM_014009.4(FOXP3):c.341G>A (p.Arg114Gln)
NM_014009.4(FOXP3):c.372G>A (p.Glu124=)
NM_014009.4(FOXP3):c.374G>A (p.Ser125Asn)
NM_014009.4(FOXP3):c.407C>T (p.Thr136Ile)
NM_014009.4(FOXP3):c.408C>T (p.Thr136=) rs782613398
NM_014009.4(FOXP3):c.409G>A (p.Ala137Thr) rs1057524899
NM_014009.4(FOXP3):c.418G>C (p.Val140Leu)
NM_014009.4(FOXP3):c.420C>G (p.Val140=)
NM_014009.4(FOXP3):c.444C>T (p.Gly148=)
NM_014009.4(FOXP3):c.451C>T (p.Pro151Ser) rs1557116520
NM_014009.4(FOXP3):c.454+4A>G rs2147948858
NM_014009.4(FOXP3):c.455-14G>A rs914653327
NM_014009.4(FOXP3):c.455-19G>A
NM_014009.4(FOXP3):c.473T>A (p.Leu158Gln)
NM_014009.4(FOXP3):c.482T>C (p.Val161Ala)
NM_014009.4(FOXP3):c.486C>T (p.Ser162=) rs1557116474
NM_014009.4(FOXP3):c.492G>A (p.Glu164=) rs2147948631
NM_014009.4(FOXP3):c.492G>C (p.Glu164Asp) rs2147948631
NM_014009.4(FOXP3):c.494C>T (p.Pro165Leu) rs1279942582
NM_014009.4(FOXP3):c.499C>A (p.Leu167Met)
NM_014009.4(FOXP3):c.506G>A (p.Cys169Tyr) rs1284218417
NM_014009.4(FOXP3):c.521C>G (p.Pro174Arg)
NM_014009.4(FOXP3):c.524G>A (p.Ser175Asn)
NM_014009.4(FOXP3):c.542+6T>C
NM_014009.4(FOXP3):c.542+8G>A
NM_014009.4(FOXP3):c.542G>T (p.Ser181Ile) rs1602686006
NM_014009.4(FOXP3):c.543-16C>T
NM_014009.4(FOXP3):c.543-3dup
NM_014009.4(FOXP3):c.543-4C>T rs782430715
NM_014009.4(FOXP3):c.543-5C>T
NM_014009.4(FOXP3):c.552G>T (p.Ser184=) rs782085584
NM_014009.4(FOXP3):c.59C>T (p.Pro20Leu) rs2066089076
NM_014009.4(FOXP3):c.606C>T (p.Pro202=)
NM_014009.4(FOXP3):c.607G>A (p.Gly203Arg)
NM_014009.4(FOXP3):c.616_618del (p.Lys206del) rs2066076242
NM_014009.4(FOXP3):c.619G>A (p.Val207Ile)
NM_014009.4(FOXP3):c.61G>C (p.Gly21Arg)
NM_014009.4(FOXP3):c.631C>T (p.Pro211Ser) rs374109896
NM_014009.4(FOXP3):c.637G>T (p.Asp213Tyr) rs2147948474
NM_014009.4(FOXP3):c.647+11del rs2066075881
NM_014009.4(FOXP3):c.648-3T>C
NM_014009.4(FOXP3):c.650A>G (p.His217Arg) rs1045776635
NM_014009.4(FOXP3):c.659C>A (p.Ala220Glu)
NM_014009.4(FOXP3):c.660G>A (p.Ala220=)
NM_014009.4(FOXP3):c.680A>C (p.Lys227Thr) rs2147947523
NM_014009.4(FOXP3):c.694T>G (p.Cys232Gly) rs1569529715
NM_014009.4(FOXP3):c.702C>T (p.Leu234=) rs2066065548
NM_014009.4(FOXP3):c.727G>A (p.Glu243Lys)
NM_014009.4(FOXP3):c.733C>G (p.Gln245Glu) rs2147947487
NM_014009.4(FOXP3):c.735+13C>T
NM_014009.4(FOXP3):c.735+17G>A
NM_014009.4(FOXP3):c.736-2A>T rs2147947315
NM_014009.4(FOXP3):c.736_737inv (p.Leu246Arg)
NM_014009.4(FOXP3):c.748_750del (p.Lys250del) rs1557116163
NM_014009.4(FOXP3):c.751_753del (p.Glu251del) rs122467171
NM_014009.4(FOXP3):c.754A>G (p.Lys252Glu) rs2147947305
NM_014009.4(FOXP3):c.761G>A (p.Ser254Asn)
NM_014009.4(FOXP3):c.762T>C (p.Ser254=)
NM_014009.4(FOXP3):c.786G>A (p.Gly262=)
NM_014009.4(FOXP3):c.799A>C (p.Thr267Pro)
NM_014009.4(FOXP3):c.80G>A (p.Arg27Lys) rs2147949688
NM_014009.4(FOXP3):c.811T>C (p.Ser271Pro)
NM_014009.4(FOXP3):c.816G>A (p.Val272=)
NM_014009.4(FOXP3):c.817-10C>G
NM_014009.4(FOXP3):c.817-11C>T
NM_014009.4(FOXP3):c.817-5C>T rs1602682433
NM_014009.4(FOXP3):c.826G>A (p.Asp276Asn)
NM_014009.4(FOXP3):c.847G>T (p.Val283Leu)
NM_014009.4(FOXP3):c.84T>C (p.Ala28=)
NM_014009.4(FOXP3):c.851C>T (p.Ala284Val)
NM_014009.4(FOXP3):c.869C>T (p.Pro290Leu)
NM_014009.4(FOXP3):c.883T>C (p.Trp295Arg)
NM_014009.4(FOXP3):c.890G>C (p.Gly297Ala) rs2066051349
NM_014009.4(FOXP3):c.898G>A (p.Glu300Lys) rs2147946014
NM_014009.4(FOXP3):c.912C>T (p.Ser304=) rs2147946006
NM_014009.4(FOXP3):c.928A>G (p.Arg310Gly) rs782635427
NM_014009.4(FOXP3):c.938G>T (p.Trp313Leu)
NM_014009.4(FOXP3):c.940G>A (p.Gly314Ser)
NM_014009.4(FOXP3):c.941G>A (p.Gly314Asp)
NM_014009.4(FOXP3):c.94G>T (p.Ala32Ser)
NM_014009.4(FOXP3):c.954C>T (p.Asn318=)
NM_014009.4(FOXP3):c.95C>T (p.Ala32Val)
NM_014009.4(FOXP3):c.963C>G (p.Phe321Leu) rs143869281
NM_014009.4(FOXP3):c.967+3A>T rs2066050512
NM_014009.4(FOXP3):c.967G>A (p.Glu323Lys) rs2066050534
NM_014009.4(FOXP3):c.968-12A>G
NM_014009.4(FOXP3):c.968-13del
NM_014009.4(FOXP3):c.968-17T>A
NM_014009.4(FOXP3):c.970T>C (p.Phe324Leu) rs122467173
NM_014009.4(FOXP3):c.970T>G (p.Phe324Val) rs122467173
NM_014009.4(FOXP3):c.981C>T (p.Asn327=)
NM_014009.4(FOXP3):c.992T>C (p.Phe331Ser)
NM_014009.4(FOXP3):c.998T>A (p.Phe333Tyr) rs2147945481
NM_014009.4(FOXP3):c.9C>G (p.Asn3Lys)
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_032977.4(CASP10):c.1015C>G (p.Gln339Glu) rs111775921
NM_032977.4(CASP10):c.1022G>A (p.Cys341Tyr)
NM_032977.4(CASP10):c.1031C>T (p.Ala344Val) rs1945312703
NM_032977.4(CASP10):c.1039G>A (p.Asp347Asn)
NM_032977.4(CASP10):c.103G>A (p.Asp35Asn)
NM_032977.4(CASP10):c.1068G>A (p.Leu356=) rs111489269
NM_032977.4(CASP10):c.1068G>C (p.Leu356=)
NM_032977.4(CASP10):c.1086A>G (p.Gly362=)
NM_032977.4(CASP10):c.1089T>C (p.Ala363=)
NM_032977.4(CASP10):c.1094A>C (p.Tyr365Ser)
NM_032977.4(CASP10):c.1101G>A (p.Ser367=) rs1300529029
NM_032977.4(CASP10):c.1121T>A (p.Ile374Asn) rs2126047984
NM_032977.4(CASP10):c.1124G>A (p.Arg375Gln) rs375798142
NM_032977.4(CASP10):c.1133T>C (p.Met378Thr)
NM_032977.4(CASP10):c.1139A>G (p.His380Arg)
NM_032977.4(CASP10):c.1148C>A (p.Ala383Asp) rs1181337952
NM_032977.4(CASP10):c.1153C>T (p.Gln385Ter) rs2126048039
NM_032977.4(CASP10):c.1161T>C (p.Pro387=)
NM_032977.4(CASP10):c.117C>T (p.Leu39=) rs1576060227
NM_032977.4(CASP10):c.1182A>G (p.Lys394=) rs1576127112
NM_032977.4(CASP10):c.1198G>A (p.Ala400Thr)
NM_032977.4(CASP10):c.1198G>C (p.Ala400Pro) rs762404236
NM_032977.4(CASP10):c.1199C>T (p.Ala400Val)
NM_032977.4(CASP10):c.1207G>C (p.Gly403Arg) rs916343393
NM_032977.4(CASP10):c.1223C>T (p.Pro408Leu)
NM_032977.4(CASP10):c.1226C>A (p.Ser409Tyr) rs1409279830
NM_032977.4(CASP10):c.1226C>T (p.Ser409Phe)
NM_032977.4(CASP10):c.1236C>T (p.Ile412=)
NM_032977.4(CASP10):c.1249C>T (p.Leu417=) rs2126048239
NM_032977.4(CASP10):c.1254C>T (p.Asn418=)
NM_032977.4(CASP10):c.126C>T (p.Leu42=) rs146684884
NM_032977.4(CASP10):c.1271C>T (p.Thr424Ile) rs1559309649
NM_032977.4(CASP10):c.1276C>T (p.Leu426=) rs778094540
NM_032977.4(CASP10):c.1282G>C (p.Asp428His) rs1945323616
NM_032977.4(CASP10):c.1285A>G (p.Ser429Gly) rs1945323812
NM_032977.4(CASP10):c.1309C>T (p.Leu437=)
NM_032977.4(CASP10):c.130A>T (p.Ile44Leu) rs766784091
NM_032977.4(CASP10):c.1321G>A (p.Ala441Thr) rs760580885
NM_032977.4(CASP10):c.1326T>C (p.Thr442=) rs2126048396
NM_032977.4(CASP10):c.1342T>A (p.Ser448Thr)
NM_032977.4(CASP10):c.1348C>A (p.Arg450=)
NM_032977.4(CASP10):c.1349G>A (p.Arg450Gln)
NM_032977.4(CASP10):c.134G>A (p.Gly45Glu)
NM_032977.4(CASP10):c.1355T>C (p.Val452Ala) rs757598550
NM_032977.4(CASP10):c.1359G>A (p.Glu453=)
NM_032977.4(CASP10):c.136T>G (p.Leu46Val) rs1047225163
NM_032977.4(CASP10):c.1376T>G (p.Ile459Ser)
NM_032977.4(CASP10):c.1387T>A (p.Cys463Ser)
NM_032977.4(CASP10):c.13G>A (p.Gly5Ser)
NM_032977.4(CASP10):c.1402A>G (p.Lys468Glu)
NM_032977.4(CASP10):c.1405T>C (p.Leu469=)
NM_032977.4(CASP10):c.1409T>C (p.Val470Ala)
NM_032977.4(CASP10):c.1415+18del
NM_032977.4(CASP10):c.1415+18dup rs749295497
NM_032977.4(CASP10):c.1416-12del rs776992048
NM_032977.4(CASP10):c.1416-13T>A rs765334702
NM_032977.4(CASP10):c.1416-3C>A rs1945611761
NM_032977.4(CASP10):c.1416-4G>A
NM_032977.4(CASP10):c.1418A>G (p.His473Arg) rs538186121
NM_032977.4(CASP10):c.1422A>G (p.Glu474=)
NM_032977.4(CASP10):c.1438C>T (p.Leu480Phe)
NM_032977.4(CASP10):c.144C>T (p.Pro48=) rs751018783
NM_032977.4(CASP10):c.1455T>C (p.Asp485=)
NM_032977.4(CASP10):c.1457A>T (p.Asp486Val) rs2126062063
NM_032977.4(CASP10):c.1460T>G (p.Val487Gly) rs1559314420
NM_032977.4(CASP10):c.1462A>G (p.Ser488Gly)
NM_032977.4(CASP10):c.1465C>T (p.Arg489Ter) rs746530401
NM_032977.4(CASP10):c.1473G>A (p.Val491=) rs2126062098
NM_032977.4(CASP10):c.1501C>A (p.Pro501Thr)
NM_032977.4(CASP10):c.1519C>T (p.Leu507=)
NM_032977.4(CASP10):c.1530del (p.Lys510fs)
NM_032977.4(CASP10):c.153G>A (p.Lys51=)
NM_032977.4(CASP10):c.1546C>G (p.Pro516Ala)
NM_032977.4(CASP10):c.1551G>A (p.Leu517=)
NM_032977.4(CASP10):c.1557A>G (p.Ala519=)
NM_032977.4(CASP10):c.174C>A (p.Ala58=) rs114625983
NM_032977.4(CASP10):c.174C>T (p.Ala58=) rs114625983
NM_032977.4(CASP10):c.176_177delinsGG (p.Ser59Trp) rs1559292275
NM_032977.4(CASP10):c.199G>T (p.Ala67Ser) rs773537509
NM_032977.4(CASP10):c.211C>T (p.Leu71=)
NM_032977.4(CASP10):c.215G>C (p.Ser72Thr) rs2126005258
NM_032977.4(CASP10):c.225C>T (p.Asp75=)
NM_032977.4(CASP10):c.244CTC[1] (p.Leu83del) rs749820662
NM_032977.4(CASP10):c.247C>G (p.Leu83Val) rs759913674
NM_032977.4(CASP10):c.247C>T (p.Leu83Phe)
NM_032977.4(CASP10):c.248T>C (p.Leu83Pro)
NM_032977.4(CASP10):c.249C>T (p.Leu83=)
NM_032977.4(CASP10):c.250T>C (p.Tyr84His) rs2126005350
NM_032977.4(CASP10):c.251A>G (p.Tyr84Cys)
NM_032977.4(CASP10):c.260G>A (p.Arg87Gln)
NM_032977.4(CASP10):c.270G>A (p.Lys90=)
NM_032977.4(CASP10):c.278A>C (p.Gln93Pro)
NM_032977.4(CASP10):c.284T>C (p.Leu95Pro) rs1944405008
NM_032977.4(CASP10):c.295A>G (p.Lys99Glu) rs531649047
NM_032977.4(CASP10):c.29C>G (p.Ser10Cys) rs1188335683
NM_032977.4(CASP10):c.303A>T (p.Glu101Asp)
NM_032977.4(CASP10):c.309G>A (p.Glu103=)
NM_032977.4(CASP10):c.314T>A (p.Leu105Gln)
NM_032977.4(CASP10):c.326G>C (p.Arg109Pro)
NM_032977.4(CASP10):c.347+11G>A
NM_032977.4(CASP10):c.347+16T>C
NM_032977.4(CASP10):c.347+6G>A
NM_032977.4(CASP10):c.347+9G>A rs7608787
NM_032977.4(CASP10):c.347+9G>T rs7608787
NM_032977.4(CASP10):c.348-13G>C
NM_032977.4(CASP10):c.348-16dup rs771877930
NM_032977.4(CASP10):c.361G>A (p.Glu121Lys) rs565907504
NM_032977.4(CASP10):c.365T>C (p.Leu122Pro) rs1944463643
NM_032977.4(CASP10):c.376A>G (p.Ile126Val) rs1391900340
NM_032977.4(CASP10):c.385G>A (p.Glu129Lys) rs2126008482
NM_032977.4(CASP10):c.387G>C (p.Glu129Asp)
NM_032977.4(CASP10):c.387G>T (p.Glu129Asp)
NM_032977.4(CASP10):c.387_388del (p.Asn130fs)
NM_032977.4(CASP10):c.389_393delinsC (p.Asn130fs) rs1944464774
NM_032977.4(CASP10):c.405C>A (p.Ile135=) rs558017414
NM_032977.4(CASP10):c.413T>C (p.Leu138Pro) rs1340599595
NM_032977.4(CASP10):c.416A>C (p.Lys139Thr)
NM_032977.4(CASP10):c.419A>C (p.Asp140Ala)
NM_032977.4(CASP10):c.423G>A (p.Ser141=) rs768931544
NM_032977.4(CASP10):c.441+19A>G
NM_032977.4(CASP10):c.441+8G>A
NM_032977.4(CASP10):c.441G>A (p.Met147Ile)
NM_032977.4(CASP10):c.442-18C>G
NM_032977.4(CASP10):c.448C>A (p.Leu150Ile)
NM_032977.4(CASP10):c.448C>G (p.Leu150Val)
NM_032977.4(CASP10):c.45C>T (p.Asn15=)
NM_032977.4(CASP10):c.461C>A (p.Ala154Glu)
NM_032977.4(CASP10):c.471G>T (p.Glu157Asp)
NM_032977.4(CASP10):c.474A>G (p.Lys158=)
NM_032977.4(CASP10):c.477del (p.Gly160fs) rs766461320
NM_032977.4(CASP10):c.47G>A (p.Cys16Tyr)
NM_032977.4(CASP10):c.487G>T (p.Asp163Tyr)
NM_032977.4(CASP10):c.499C>G (p.Leu167Val)
NM_032977.4(CASP10):c.506G>T (p.Cys169Phe)
NM_032977.4(CASP10):c.522C>G (p.Cys174Trp)
NM_032977.4(CASP10):c.529G>A (p.Val177Ile)
NM_032977.4(CASP10):c.534A>G (p.Val178=) rs146233833
NM_032977.4(CASP10):c.544T>C (p.Leu182=)
NM_032977.4(CASP10):c.548G>T (p.Arg183Ile) rs753989167
NM_032977.4(CASP10):c.551del (p.Asn184fs)
NM_032977.4(CASP10):c.554T>C (p.Ile185Thr) rs753049035
NM_032977.4(CASP10):c.576A>G (p.Lys192=)
NM_032977.4(CASP10):c.577+12G>A rs2126017521
NM_032977.4(CASP10):c.577+5G>T
NM_032977.4(CASP10):c.577+7A>G
NM_032977.4(CASP10):c.577+8G>T rs2126017514
NM_032977.4(CASP10):c.578-10T>G
NM_032977.4(CASP10):c.578-18C>T
NM_032977.4(CASP10):c.578-3C>T
NM_032977.4(CASP10):c.57C>G (p.Ser19Arg)
NM_032977.4(CASP10):c.584A>G (p.Gln195Arg)
NM_032977.4(CASP10):c.587_588del (p.Ile196fs)
NM_032977.4(CASP10):c.590T>C (p.Val197Ala)
NM_032977.4(CASP10):c.593C>A (p.Thr198Lys)
NM_032977.4(CASP10):c.601G>T (p.Val201Leu) rs755710677
NM_032977.4(CASP10):c.607A>G (p.Lys203Glu)
NM_032977.4(CASP10):c.610G>C (p.Glu204Gln)
NM_032977.4(CASP10):c.615C>T (p.Ala205=)
NM_032977.4(CASP10):c.620C>G (p.Ser207Trp)
NM_032977.4(CASP10):c.625C>A (p.Gln209Lys)
NM_032977.4(CASP10):c.629G>C (p.Gly210Ala)
NM_032977.4(CASP10):c.62G>A (p.Arg21His) rs140813639
NM_032977.4(CASP10):c.641T>G (p.Leu214Arg)
NM_032977.4(CASP10):c.647C>G (p.Ser216Cys)
NM_032977.4(CASP10):c.657T>A (p.Asp219Glu)
NM_032977.4(CASP10):c.682C>T (p.Pro228Ser)
NM_032977.4(CASP10):c.684+15G>A
NM_032977.4(CASP10):c.684+20G>A
NM_032977.4(CASP10):c.684+20G>C
NM_032977.4(CASP10):c.684+4G>A
NM_032977.4(CASP10):c.684+4G>T
NM_032977.4(CASP10):c.684+9A>G
NM_032977.4(CASP10):c.685-15T>C
NM_032977.4(CASP10):c.685-2A>G rs966440916
NM_032977.4(CASP10):c.685C>T (p.Gln229Ter) rs2126038202
NM_032977.4(CASP10):c.686A>T (p.Gln229Leu)
NM_032977.4(CASP10):c.690G>A (p.Glu230=)
NM_032977.4(CASP10):c.701A>T (p.Asn234Ile)
NM_032977.4(CASP10):c.714T>A (p.Gly238=)
NM_032977.4(CASP10):c.721+3A>G
NM_032977.4(CASP10):c.721+7A>G
NM_032977.4(CASP10):c.722-11T>G
NM_032977.4(CASP10):c.722-3T>C
NM_032977.4(CASP10):c.740G>T (p.Gly247Val)
NM_032977.4(CASP10):c.743C>T (p.Ala248Val)
NM_032977.4(CASP10):c.745C>T (p.Pro249Ser)
NM_032977.4(CASP10):c.748del (p.Ser250fs)
NM_032977.4(CASP10):c.752T>C (p.Leu251Pro)
NM_032977.4(CASP10):c.760A>C (p.Arg254=)
NM_032977.4(CASP10):c.760A>G (p.Arg254Gly) rs781669542
NM_032977.4(CASP10):c.765del (p.Met256fs)
NM_032977.4(CASP10):c.76A>G (p.Ile26Val)
NM_032977.4(CASP10):c.788C>G (p.Thr263Ser)
NM_032977.4(CASP10):c.791T>C (p.Leu264Pro)
NM_032977.4(CASP10):c.803C>A (p.Thr268Asn) rs776737353
NM_032977.4(CASP10):c.809C>A (p.Thr270Lys) rs1945189904
NM_032977.4(CASP10):c.810A>G (p.Thr270=) rs759324148
NM_032977.4(CASP10):c.813+3C>T
NM_032977.4(CASP10):c.813+9G>A rs764915124
NM_032977.4(CASP10):c.814-16C>G
NM_032977.4(CASP10):c.814-19G>C
NM_032977.4(CASP10):c.814-6T>G rs762072082
NM_032977.4(CASP10):c.814-9T>C rs2126045790
NM_032977.4(CASP10):c.82G>C (p.Asp28His) rs774542679
NM_032977.4(CASP10):c.839G>A (p.Arg280Gln) rs750581097
NM_032977.4(CASP10):c.844C>A (p.His282Asn) rs1945269105
NM_032977.4(CASP10):c.86C>A (p.Ser29Ter)
NM_032977.4(CASP10):c.875A>T (p.His292Leu) rs1452409142
NM_032977.4(CASP10):c.885C>T (p.Thr295=)
NM_032977.4(CASP10):c.895G>C (p.Asp299His)
NM_032977.4(CASP10):c.901C>G (p.Gln301Glu)
NM_032977.4(CASP10):c.90C>T (p.Asn30=) rs1352975177
NM_032977.4(CASP10):c.912T>C (p.His304=) rs2126046002
NM_032977.4(CASP10):c.920C>A (p.Ala307Asp) rs1291372845
NM_032977.4(CASP10):c.922+18A>G
NM_032977.4(CASP10):c.922+19G>C rs1559308130
NM_032977.4(CASP10):c.923-12G>A
NM_032977.4(CASP10):c.923-12G>T rs201904750
NM_032977.4(CASP10):c.923-12del rs367989998
NM_032977.4(CASP10):c.923-4A>G rs1559308787
NM_032977.4(CASP10):c.924G>A (p.Glu308=)
NM_032977.4(CASP10):c.924G>C (p.Glu308Asp)
NM_032977.4(CASP10):c.928C>T (p.Leu310=) rs771922378
NM_032977.4(CASP10):c.932G>A (p.Ser311Asn)
NM_032977.4(CASP10):c.974A>G (p.Asn325Ser) rs764487945
NM_032977.4(CASP10):c.989T>C (p.Val330Ala)
NM_032977.4(CASP10):c.989del (p.Val330fs) rs2126047727
NM_033629.6(TREX1):c.-11_2del (p.Met1fs)
NM_033629.6(TREX1):c.102G>A (p.Leu34=)
NM_033629.6(TREX1):c.10C>A (p.Gln4Lys)
NM_033629.6(TREX1):c.113C>T (p.Ala38Val) rs2040326850
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter) rs1354160835
NM_033629.6(TREX1):c.126T>G (p.Cys42Trp)
NM_033629.6(TREX1):c.127G>A (p.Ala43Thr) rs780414238
NM_033629.6(TREX1):c.127G>T (p.Ala43Ser) rs780414238
NM_033629.6(TREX1):c.130del (p.Leu44fs)
NM_033629.6(TREX1):c.132G>C (p.Leu44=) rs2107255846
NM_033629.6(TREX1):c.139C>A (p.Pro47Thr) rs751831423
NM_033629.6(TREX1):c.139C>T (p.Pro47Ser)
NM_033629.6(TREX1):c.140C>A (p.Pro47His)
NM_033629.6(TREX1):c.141_151del (p.Pro48fs)
NM_033629.6(TREX1):c.142C>T (p.Pro48Ser)
NM_033629.6(TREX1):c.142_144del (p.Pro48del) rs748914604
NM_033629.6(TREX1):c.143C>G (p.Pro48Arg)
NM_033629.6(TREX1):c.143C>T (p.Pro48Leu) rs2040328677
NM_033629.6(TREX1):c.144C>A (p.Pro48=) rs781060789
NM_033629.6(TREX1):c.144C>G (p.Pro48=) rs781060789
NM_033629.6(TREX1):c.144C>T (p.Pro48=) rs781060789
NM_033629.6(TREX1):c.144del (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.14C>A (p.Ala5Asp)
NM_033629.6(TREX1):c.150_151del (p.Gln51fs) rs770607110
NM_033629.6(TREX1):c.152A>C (p.Gln51Pro) rs2107256110
NM_033629.6(TREX1):c.152A>G (p.Gln51Arg)
NM_033629.6(TREX1):c.153_166del (p.Gln51fs) rs2107256093
NM_033629.6(TREX1):c.15C>T (p.Ala5=)
NM_033629.6(TREX1):c.165C>T (p.Pro55=)
NM_033629.6(TREX1):c.168A>C (p.Thr56=) rs770441459
NM_033629.6(TREX1):c.173C>T (p.Pro58Leu)
NM_033629.6(TREX1):c.178C>T (p.Pro60Ser)
NM_033629.6(TREX1):c.182C>G (p.Pro61Arg) rs777034646
NM_033629.6(TREX1):c.182C>T (p.Pro61Leu) rs777034646
NM_033629.6(TREX1):c.184C>G (p.Arg62Gly)
NM_033629.6(TREX1):c.184C>T (p.Arg62Cys) rs532286717
NM_033629.6(TREX1):c.185G>A (p.Arg62His) rs547752029
NM_033629.6(TREX1):c.185G>T (p.Arg62Leu) rs547752029
NM_033629.6(TREX1):c.187G>A (p.Val63Met)
NM_033629.6(TREX1):c.18G>C (p.Leu6=)
NM_033629.6(TREX1):c.18dup (p.Pro7fs)
NM_033629.6(TREX1):c.191T>C (p.Val64Ala) rs763056226
NM_033629.6(TREX1):c.192A>C (p.Val64=) rs2107256574
NM_033629.6(TREX1):c.194A>G (p.Asp65Gly)
NM_033629.6(TREX1):c.205_206del (p.Leu69fs)
NM_033629.6(TREX1):c.206T>C (p.Leu69Pro) rs2107256717
NM_033629.6(TREX1):c.207G>T (p.Leu69=)
NM_033629.6(TREX1):c.209G>C (p.Cys70Ser)
NM_033629.6(TREX1):c.20C>G (p.Pro7Arg)
NM_033629.6(TREX1):c.212_213del (p.Val71fs) rs74689946
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs) rs74689946
NM_033629.6(TREX1):c.213G>A (p.Val71=)
NM_033629.6(TREX1):c.216T>A (p.Ala72=)
NM_033629.6(TREX1):c.21C>A (p.Pro7=)
NM_033629.6(TREX1):c.21C>T (p.Pro7=) rs761094995
NM_033629.6(TREX1):c.224A>G (p.Lys75Arg)
NM_033629.6(TREX1):c.226_233dup (p.Ser78fs)
NM_033629.6(TREX1):c.229T>C (p.Cys77Arg)
NM_033629.6(TREX1):c.22C>G (p.Pro8Ala)
NM_033629.6(TREX1):c.236_243del (p.Pro79fs) rs1331920811
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) rs1331920811
NM_033629.6(TREX1):c.23dup (p.Pro10fs) rs781731683
NM_033629.6(TREX1):c.242C>T (p.Ala81Val)
NM_033629.6(TREX1):c.246C>A (p.Ser82Arg)
NM_033629.6(TREX1):c.246C>T (p.Ser82=)
NM_033629.6(TREX1):c.247G>C (p.Glu83Gln)
NM_033629.6(TREX1):c.249G>A (p.Glu83=)
NM_033629.6(TREX1):c.251T>G (p.Ile84Ser) rs748535974
NM_033629.6(TREX1):c.258T>C (p.Gly86=)
NM_033629.6(TREX1):c.259C>G (p.Leu87Val)
NM_033629.6(TREX1):c.260T>C (p.Leu87Pro)
NM_033629.6(TREX1):c.263G>T (p.Ser88Ile)
NM_033629.6(TREX1):c.26G>A (p.Gly9Glu) rs2040321005
NM_033629.6(TREX1):c.271G>C (p.Val91Leu)
NM_033629.6(TREX1):c.277G>A (p.Ala93Thr)
NM_033629.6(TREX1):c.27G>T (p.Gly9=) rs908382062
NM_033629.6(TREX1):c.284A>C (p.His95Pro)
NM_033629.6(TREX1):c.287G>C (p.Gly96Ala)
NM_033629.6(TREX1):c.289C>T (p.Arg97Cys)
NM_033629.6(TREX1):c.294A>C (p.Gln98His)
NM_033629.6(TREX1):c.294_296dup (p.Cys99Ter)
NM_033629.6(TREX1):c.294dup (p.Cys99fs) rs760594164
NM_033629.6(TREX1):c.295T>C (p.Cys99Arg)
NM_033629.6(TREX1):c.296_299dup (p.Phe100fs) rs763966000
NM_033629.6(TREX1):c.298T>C (p.Phe100Leu)
NM_033629.6(TREX1):c.2T>C (p.Met1Thr) rs1179208432
NM_033629.6(TREX1):c.300T>A (p.Phe100Leu) rs2107257691
NM_033629.6(TREX1):c.302A>G (p.Asp101Gly)
NM_033629.6(TREX1):c.306C>T (p.Asp102=)
NM_033629.6(TREX1):c.30C>G (p.Pro10=)
NM_033629.6(TREX1):c.30C>T (p.Pro10=) rs560658691
NM_033629.6(TREX1):c.314C>T (p.Ala105Val)
NM_033629.6(TREX1):c.318C>T (p.Asn106=)
NM_033629.6(TREX1):c.321G>A (p.Leu107=) rs771553021
NM_033629.6(TREX1):c.324C>T (p.Leu108=)
NM_033629.6(TREX1):c.329C>G (p.Ala110Gly)
NM_033629.6(TREX1):c.32T>C (p.Met11Thr)
NM_033629.6(TREX1):c.334C>T (p.Leu112=)
NM_033629.6(TREX1):c.337C>G (p.Arg113Gly) rs759594113
NM_033629.6(TREX1):c.345G>T (p.Gln115His)
NM_033629.6(TREX1):c.349C>T (p.Gln117Ter)
NM_033629.6(TREX1):c.35A>G (p.Gln12Arg) rs780467272
NM_033629.6(TREX1):c.360C>T (p.Cys120=) rs1436644080
NM_033629.6(TREX1):c.366_367del (p.Ala123fs)
NM_033629.6(TREX1):c.369A>G (p.Ala123=)
NM_033629.6(TREX1):c.371_381del (p.His124fs)
NM_033629.6(TREX1):c.374A>G (p.Asn125Ser) rs757863487
NM_033629.6(TREX1):c.375T>C (p.Asn125=)
NM_033629.6(TREX1):c.378T>C (p.Gly126=)
NM_033629.6(TREX1):c.380A>T (p.Asp127Val)
NM_033629.6(TREX1):c.382_390del (p.Arg128_Asp130del)
NM_033629.6(TREX1):c.388G>A (p.Asp130Asn) rs781051771
NM_033629.6(TREX1):c.391T>A (p.Phe131Ile)
NM_033629.6(TREX1):c.391T>C (p.Phe131Leu)
NM_033629.6(TREX1):c.391T>G (p.Phe131Val) rs1064796645
NM_033629.6(TREX1):c.393C>T (p.Phe131=) rs749667732
NM_033629.6(TREX1):c.399dup (p.Leu134fs) rs2107258834
NM_033629.6(TREX1):c.400C>A (p.Leu134Ile)
NM_033629.6(TREX1):c.403C>G (p.Gln135Glu) rs746384382
NM_033629.6(TREX1):c.405A>G (p.Gln135=)
NM_033629.6(TREX1):c.408A>G (p.Ala136=)
NM_033629.6(TREX1):c.40C>T (p.Leu14Phe)
NM_033629.6(TREX1):c.410A>C (p.Glu137Ala)
NM_033629.6(TREX1):c.412C>G (p.Leu138Val) rs2040349486
NM_033629.6(TREX1):c.419T>C (p.Met140Thr) rs2107259076
NM_033629.6(TREX1):c.425G>C (p.Gly142Ala)
NM_033629.6(TREX1):c.430A>T (p.Thr144Ser) rs2040351031
NM_033629.6(TREX1):c.434G>A (p.Ser145Asn) rs2040351297
NM_033629.6(TREX1):c.43_45dup (p.Ile15_Phe16insIle) rs2040322179
NM_033629.6(TREX1):c.440T>C (p.Leu147Pro)
NM_033629.6(TREX1):c.446G>C (p.Gly149Ala)
NM_033629.6(TREX1):c.448G>A (p.Ala150Thr)
NM_033629.6(TREX1):c.450C>G (p.Ala150=)
NM_033629.6(TREX1):c.453C>G (p.Phe151Leu)
NM_033629.6(TREX1):c.463A>G (p.Ser155Gly) rs776885477
NM_033629.6(TREX1):c.465C>T (p.Ser155=)
NM_033629.6(TREX1):c.466A>G (p.Ile156Val)
NM_033629.6(TREX1):c.467_469dup (p.Ile156_Thr157insIle) rs1272053329
NM_033629.6(TREX1):c.468C>G (p.Ile156Met)
NM_033629.6(TREX1):c.469A>G (p.Thr157Ala)
NM_033629.6(TREX1):c.470C>G (p.Thr157Ser) rs1210588757
NM_033629.6(TREX1):c.471T>C (p.Thr157=)
NM_033629.6(TREX1):c.474_475delinsCT (p.Ala158_Leu159=)
NM_033629.6(TREX1):c.478A>C (p.Lys160Gln)
NM_033629.6(TREX1):c.484C>T (p.Leu162=) rs1553820257
NM_033629.6(TREX1):c.491G>A (p.Arg164Gln) rs143885312
NM_033629.6(TREX1):c.491G>C (p.Arg164Pro) rs143885312
NM_033629.6(TREX1):c.491G>T (p.Arg164Leu)
NM_033629.6(TREX1):c.494C>A (p.Ala165Glu) rs2040354615
NM_033629.6(TREX1):c.495A>C (p.Ala165=)
NM_033629.6(TREX1):c.495A>G (p.Ala165=)
NM_033629.6(TREX1):c.497G>C (p.Ser166Thr) rs1177028457
NM_033629.6(TREX1):c.502C>T (p.Pro168Ser)
NM_033629.6(TREX1):c.503C>T (p.Pro168Leu)
NM_033629.6(TREX1):c.505T>C (p.Ser169Pro)
NM_033629.6(TREX1):c.508G>A (p.Glu170Lys)
NM_033629.6(TREX1):c.509A>G (p.Glu170Gly) rs2107260081
NM_033629.6(TREX1):c.513del (p.His171fs)
NM_033629.6(TREX1):c.514G>A (p.Gly172Ser)
NM_033629.6(TREX1):c.518C>T (p.Pro173Leu)
NM_033629.6(TREX1):c.519A>G (p.Pro173=)
NM_033629.6(TREX1):c.51C>T (p.Phe17=)
NM_033629.6(TREX1):c.521G>A (p.Arg174Lys)
NM_033629.6(TREX1):c.522_523delinsTT (p.Arg174_Lys175delinsSerTer)
NM_033629.6(TREX1):c.524_526dup (p.Lys175_Ser176insLys)
NM_033629.6(TREX1):c.526A>G (p.Ser176Gly) rs2107260408
NM_033629.6(TREX1):c.527G>T (p.Ser176Ile) rs1464355841
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.6(TREX1):c.531_548del (p.Ser178_Tyr183del)
NM_033629.6(TREX1):c.535C>T (p.Leu179=) rs1575293364
NM_033629.6(TREX1):c.540C>T (p.Gly180=) rs2040359280
NM_033629.6(TREX1):c.548A>G (p.Tyr183Cys)
NM_033629.6(TREX1):c.54C>T (p.Asp18=)
NM_033629.6(TREX1):c.554G>A (p.Arg185His) rs767157848
NM_033629.6(TREX1):c.558G>A (p.Leu186=) rs2107261127
NM_033629.6(TREX1):c.558G>C (p.Leu186=)
NM_033629.6(TREX1):c.55A>C (p.Met19Leu) rs2107255139
NM_033629.6(TREX1):c.55A>G (p.Met19Val)
NM_033629.6(TREX1):c.55dup (p.Met19fs)
NM_033629.6(TREX1):c.565C>T (p.Gln189Ter)
NM_033629.6(TREX1):c.56T>C (p.Met19Thr)
NM_033629.6(TREX1):c.574C>T (p.Pro192Ser)
NM_033629.6(TREX1):c.578A>G (p.Asp193Gly) rs1575293494
NM_033629.6(TREX1):c.589G>A (p.Ala197Thr)
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_033629.6(TREX1):c.591T>C (p.Ala197=)
NM_033629.6(TREX1):c.592G>A (p.Glu198Lys) rs1416519719
NM_033629.6(TREX1):c.594G>A (p.Glu198=) rs2040363169
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) rs78846775
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) rs74556809
NM_033629.6(TREX1):c.5del (p.Gly2fs) rs2107254550
NM_033629.6(TREX1):c.600T>C (p.Asp200=)
NM_033629.6(TREX1):c.607G>A (p.Ala203Thr) rs2107261840
NM_033629.6(TREX1):c.608C>T (p.Ala203Val) rs2107261898
NM_033629.6(TREX1):c.60G>A (p.Glu20=)
NM_033629.6(TREX1):c.615C>T (p.Leu205=)
NM_033629.6(TREX1):c.616A>G (p.Ser206Gly)
NM_033629.6(TREX1):c.617G>A (p.Ser206Asn)
NM_033629.6(TREX1):c.621C>G (p.Ile207Met)
NM_033629.6(TREX1):c.621_622del (p.Ile207fs) rs781199890
NM_033629.6(TREX1):c.623G>A (p.Cys208Tyr)
NM_033629.6(TREX1):c.627G>C (p.Gln209His) rs748970378
NM_033629.6(TREX1):c.632G>A (p.Arg211Lys)
NM_033629.6(TREX1):c.633A>C (p.Arg211Ser) rs1433877282
NM_033629.6(TREX1):c.635del (p.Pro212fs) rs756664985
NM_033629.6(TREX1):c.638A>G (p.Gln213Arg)
NM_033629.6(TREX1):c.63C>T (p.Ala21=)
NM_033629.6(TREX1):c.640G>A (p.Ala214Thr) rs1575293697
NM_033629.6(TREX1):c.642C>G (p.Ala214=)
NM_033629.6(TREX1):c.645G>A (p.Leu215=)
NM_033629.6(TREX1):c.649C>A (p.Arg217=)
NM_033629.6(TREX1):c.650G>A (p.Arg217Gln) rs775117062
NM_033629.6(TREX1):c.655G>T (p.Val219Leu)
NM_033629.6(TREX1):c.662C>T (p.Ala221Val)
NM_033629.6(TREX1):c.663T>A (p.Ala221=)
NM_033629.6(TREX1):c.663T>G (p.Ala221=)
NM_033629.6(TREX1):c.664C>A (p.His222Asn)
NM_033629.6(TREX1):c.666C>A (p.His222Gln)
NM_033629.6(TREX1):c.666C>G (p.His222Gln) rs1431098691
NM_033629.6(TREX1):c.666C>T (p.His222=)
NM_033629.6(TREX1):c.670A>C (p.Arg224=)
NM_033629.6(TREX1):c.676T>C (p.Phe226Leu)
NM_033629.6(TREX1):c.678C>G (p.Phe226Leu)
NM_033629.6(TREX1):c.678C>T (p.Phe226=) rs139228069
NM_033629.6(TREX1):c.685A>G (p.Ile229Val)
NM_033629.6(TREX1):c.694A>G (p.Met232Val) rs2040371837
NM_033629.6(TREX1):c.69C>T (p.Gly23=)
NM_033629.6(TREX1):c.69dup (p.Pro25fs)
NM_033629.6(TREX1):c.6C>T (p.Gly2=)
NM_033629.6(TREX1):c.703del (p.Val235fs)
NM_033629.6(TREX1):c.703dup (p.Val235fs) rs1553820434
NM_033629.6(TREX1):c.704T>G (p.Val235Gly) rs2107263775
NM_033629.6(TREX1):c.705C>T (p.Val235=)
NM_033629.6(TREX1):c.70T>C (p.Leu24=)
NM_033629.6(TREX1):c.710_711insG (p.Ser238fs)
NM_033629.6(TREX1):c.720G>A (p.Arg240=) rs72556555
NM_033629.6(TREX1):c.726G>A (p.Lys242=)
NM_033629.6(TREX1):c.72G>A (p.Leu24=)
NM_033629.6(TREX1):c.733C>T (p.Pro245Ser)
NM_033629.6(TREX1):c.734C>G (p.Pro245Arg) rs1560113388
NM_033629.6(TREX1):c.735A>T (p.Pro245=)
NM_033629.6(TREX1):c.735_737dup (p.Ser246_Ala247insSer)
NM_033629.6(TREX1):c.736T>C (p.Ser246Pro)
NM_033629.6(TREX1):c.739G>A (p.Ala247Thr) rs112741962
NM_033629.6(TREX1):c.746C>T (p.Thr249Ile) rs759962919
NM_033629.6(TREX1):c.749C>T (p.Thr250Ile) rs2040376821
NM_033629.6(TREX1):c.74C>T (p.Pro25Leu)
NM_033629.6(TREX1):c.752C>T (p.Thr251Ile)
NM_033629.6(TREX1):c.753T>G (p.Thr251=)
NM_033629.6(TREX1):c.757C>G (p.His253Asp) rs1236695721
NM_033629.6(TREX1):c.757C>T (p.His253Tyr)
NM_033629.6(TREX1):c.758A>G (p.His253Arg)
NM_033629.6(TREX1):c.75C>G (p.Pro25=)
NM_033629.6(TREX1):c.760C>A (p.Leu254Met)
NM_033629.6(TREX1):c.760C>T (p.Leu254=)
NM_033629.6(TREX1):c.769A>G (p.Thr257Ala)
NM_033629.6(TREX1):c.76_80dup (p.Gln28fs)
NM_033629.6(TREX1):c.770C>T (p.Thr257Ile) rs1447568260
NM_033629.6(TREX1):c.780_781del (p.Pro262fs)
NM_033629.6(TREX1):c.781A>G (p.Ser261Gly)
NM_033629.6(TREX1):c.783T>C (p.Ser261=)
NM_033629.6(TREX1):c.786C>T (p.Pro262=)
NM_033629.6(TREX1):c.787A>C (p.Ser263Arg)
NM_033629.6(TREX1):c.787A>G (p.Ser263Gly) rs2107264871
NM_033629.6(TREX1):c.788G>A (p.Ser263Asn)
NM_033629.6(TREX1):c.795_802dup (p.Arg268fs) rs2107264951
NM_033629.6(TREX1):c.796G>T (p.Glu266Ter) rs757478752
NM_033629.6(TREX1):c.798G>A (p.Glu266=) rs745652233
NM_033629.6(TREX1):c.799dup (p.Ser267fs) rs2107265081
NM_033629.6(TREX1):c.802del (p.Arg268fs) rs2107265153
NM_033629.6(TREX1):c.803G>A (p.Arg268Lys)
NM_033629.6(TREX1):c.805G>A (p.Gly269Ser)
NM_033629.6(TREX1):c.806G>A (p.Gly269Asp)
NM_033629.6(TREX1):c.806G>T (p.Gly269Val)
NM_033629.6(TREX1):c.815A>C (p.Asp272Ala)
NM_033629.6(TREX1):c.815A>T (p.Asp272Val)
NM_033629.6(TREX1):c.817C>G (p.Leu273Val) rs2040382167
NM_033629.6(TREX1):c.817C>T (p.Leu273Phe)
NM_033629.6(TREX1):c.829A>T (p.Lys277Ter) rs1553820518
NM_033629.6(TREX1):c.830A>G (p.Lys277Arg)
NM_033629.6(TREX1):c.83A>G (p.Gln28Arg) rs1369567808
NM_033629.6(TREX1):c.849C>T (p.Ser283=) rs776171409
NM_033629.6(TREX1):c.84G>C (p.Gln28His)
NM_033629.6(TREX1):c.854A>T (p.Glu285Val) rs2040385549
NM_033629.6(TREX1):c.857G>A (p.Gly286Glu) rs2040386246
NM_033629.6(TREX1):c.858_867delinsTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTAT (p.Leu287_Ala289delinsGlyCysSerArgGlnAlaPheArgHisHisGlnAlaHisValTrpGlyHisSerLeuCysTer) rs2107266070
NM_033629.6(TREX1):c.858dup (p.Leu287fs) rs2107265977
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_033629.6(TREX1):c.871C>T (p.Leu291=)
NM_033629.6(TREX1):c.873G>A (p.Leu291=)
NM_033629.6(TREX1):c.873G>C (p.Leu291=)
NM_033629.6(TREX1):c.880C>T (p.Leu294=)
NM_033629.6(TREX1):c.889C>T (p.Leu297=)
NM_033629.6(TREX1):c.88A>G (p.Lys30Glu)
NM_033629.6(TREX1):c.892A>T (p.Thr298Ser)
NM_033629.6(TREX1):c.895T>G (p.Leu299Val)
NM_033629.6(TREX1):c.899C>T (p.Ala300Val) rs1553820567
NM_033629.6(TREX1):c.901G>A (p.Val301Ile)
NM_033629.6(TREX1):c.902dup (p.Ala302fs)
NM_033629.6(TREX1):c.908C>T (p.Thr303Ile) rs765487310
NM_033629.6(TREX1):c.909A>G (p.Thr303=)
NM_033629.6(TREX1):c.909_910del (p.Leu304fs) rs1315240244
NM_033629.6(TREX1):c.910C>T (p.Leu304=)
NM_033629.6(TREX1):c.913_916del (p.Tyr305fs) rs778550314
NM_033629.6(TREX1):c.915T>C (p.Tyr305=)
NM_033629.6(TREX1):c.916G>A (p.Gly306Arg) rs2040391623
NM_033629.6(TREX1):c.916G>T (p.Gly306Ter) rs2040391623
NM_033629.6(TREX1):c.917G>C (p.Gly306Ala)
NM_033629.6(TREX1):c.918A>G (p.Gly306=)
NM_033629.6(TREX1):c.91G>A (p.Val31Ile) rs1057321761
NM_033629.6(TREX1):c.921A>G (p.Leu307=)
NM_033629.6(TREX1):c.930C>A (p.Ala310=)
NM_033629.6(TREX1):c.934C>G (p.Pro312Ala) rs1265570241
NM_033629.6(TREX1):c.939G>A (p.Gly313=) rs2040393602
NM_033629.6(TREX1):c.96G>A (p.Thr32=)
NM_033629.6(TREX1):c.98A>T (p.Glu33Val)

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.